id category name description xref provided_by synonym iri same_as subsets HP:0011770 biolink:PhenotypicFeature Tertiary hyperparathyroidism A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism. SNOMEDCT_US:78200003|UMLS:C0271858 hp.json http://purl.obolibrary.org/obo/HP_0011770 HP:0011771 biolink:PhenotypicFeature Autoimmune hypoparathyroidism A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity. UMLS:C0271865|SNOMEDCT_US:75316000 hp.json http://purl.obolibrary.org/obo/HP_0011771 HP:0011772 biolink:PhenotypicFeature Abnormal thyroid morphology A structural abnormality of the thyroid gland. UMLS:C4023195 hp.json Abnormal shape of thyroid gland|Abnormality of thyroid morphology http://purl.obolibrary.org/obo/HP_0011772 UBERON:0011591 biolink:AnatomicalEntity tract of diencephalon An axon tract that is part of a diencephalon. FMA:62447 hp.json diencephalon tract http://purl.obolibrary.org/obo/UBERON_0011591 HP:0011773 biolink:PhenotypicFeature Uninodular goiter Enlargement of the thyroid gland related to a singular nodule in the thyroid gland. UMLS:C0342205|SNOMEDCT_US:237569006 hp.json Uninodular goitre http://purl.obolibrary.org/obo/HP_0011773 UBERON:0011590 biolink:AnatomicalEntity commissure of diencephalon A commissure that is part of a diencephalon. FMA:62445 hp.json diencephalon commissure http://purl.obolibrary.org/obo/UBERON_0011590 HP:0011774 biolink:PhenotypicFeature Thyroid follicular adenoma SNOMEDCT_US:255034006|MSH:D013964|UMLS:C0151468|SNOMEDCT_US:255033000 hp.json http://purl.obolibrary.org/obo/HP_0011774 HP:0011775 biolink:PhenotypicFeature Thyroid macrofollicular adenoma UMLS:C4023194 hp.json http://purl.obolibrary.org/obo/HP_0011775 HP:0011776 biolink:PhenotypicFeature Thyroid microfollicular adenoma UMLS:C4023193 hp.json http://purl.obolibrary.org/obo/HP_0011776 UBERON:0011595 biolink:AnatomicalEntity jaw region A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. NCIT:C114916|EMAPA:32905 hp.json http://purl.obolibrary.org/obo/UBERON_0011595 UBERON:0011594 biolink:AnatomicalEntity dentary tooth Tooth that is attached to a dentary/mandible[TAO,modified]. AAO:0000125|AAO:0000641|FMA:321647|TAO:0001628 hp.json tooth of dentary|mandibular teeth|mandibular tooth http://purl.obolibrary.org/obo/UBERON_0011594 UBERON:0011593 biolink:AnatomicalEntity maxillary tooth A tooth that is attached to a maxilla[TAO,modified]. AAO:0000287|FMA:321646|TAO:0001627 hp.json maxillary teeth http://purl.obolibrary.org/obo/UBERON_0011593 UBERON:0011592 biolink:AnatomicalEntity future upper lip EHDAA2:0002120 hp.json upper jaw future lip http://purl.obolibrary.org/obo/UBERON_0011592 UBERON:0011597 biolink:AnatomicalEntity bone of upper jaw Any bone that is part of the upper jaw skeleton. This includes (when present): the maxilla, the quadrate (in some species). hp.json upper jaw bone http://purl.obolibrary.org/obo/UBERON_0011597 grouping_class UBERON:0011596 biolink:AnatomicalEntity future lower lip EHDAA2:0001020 hp.json lower jaw future lip http://purl.obolibrary.org/obo/UBERON_0011596 UBERON:0011589 biolink:AnatomicalEntity non-mineralized cartilage tissue Cartilage tissue that is not mineralized. XAO:0004044|VSAO:0000089 hp.json http://purl.obolibrary.org/obo/UBERON_0011589 HP:0008117 biolink:PhenotypicFeature Shortening of the talar neck UMLS:C1843985 hp.json http://purl.obolibrary.org/obo/HP_0008117 HP:0008119 biolink:PhenotypicFeature Deformed tarsal bones UMLS:C1856746 hp.json Deformed ankle bones http://purl.obolibrary.org/obo/HP_0008119 HP:0011777 biolink:PhenotypicFeature Thyroid papillary adenoma UMLS:C4023192 hp.json http://purl.obolibrary.org/obo/HP_0011777 HP:0008114 biolink:PhenotypicFeature Metatarsal diaphyseal endosteal sclerosis Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. UMLS:C1840420 hp.json http://purl.obolibrary.org/obo/HP_0008114 HP:0011778 biolink:PhenotypicFeature Thyroid atypical adenoma UMLS:C4023191 hp.json http://purl.obolibrary.org/obo/HP_0011778 HP:0008113 biolink:PhenotypicFeature Multiple plantar creases UMLS:C1861873 hp.json http://purl.obolibrary.org/obo/HP_0008113 HP:0008116 biolink:PhenotypicFeature Flexion limitation of toes Limitation of the ability to bend the toes. UMLS:C4024731 hp.json http://purl.obolibrary.org/obo/HP_0008116 HP:0011779 biolink:PhenotypicFeature Anaplastic thyroid carcinoma MSH:D065646|SNOMEDCT_US:255031003|UMLS:C0238461 hp.json http://purl.obolibrary.org/obo/HP_0011779 HP:0008115 biolink:PhenotypicFeature Clinodactyly of the 3rd toe Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe). UMLS:C4280416|UMLS:C4021555 hp.json 3rd toe clinodactyly|Curvature of 3rd toe http://purl.obolibrary.org/obo/HP_0008115 HP:0008110 biolink:PhenotypicFeature Equinovarus deformity MSH:D003025|UMLS:C0009081|SNOMEDCT_US:397932003|SNOMEDCT_US:249808002 hp.json http://purl.obolibrary.org/obo/HP_0008110 HP:0008112 biolink:PhenotypicFeature Plantar flexion contractures UMLS:C1861239 hp.json http://purl.obolibrary.org/obo/HP_0008112 HP:0008111 biolink:PhenotypicFeature Broad distal hallux UMLS:C1863403 hp.json Broad distal big toe http://purl.obolibrary.org/obo/HP_0008111 HP:0011760 biolink:PhenotypicFeature Pituitary growth hormone cell adenoma A type of pituitary adenoma that produces growth hormone. UMLS:C4018860 hp.json Pituitary somatotropinoma http://purl.obolibrary.org/obo/HP_0011760 HP:0011761 biolink:PhenotypicFeature Pituitary null cell adenoma A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. UMLS:C0338078|SNOMEDCT_US:254962005 hp.json Hormonally silent pituitary adenoma|Silent pituitary adenoma|Clinically silent pituitary adenoma|Non-functional pituitary adenoma http://purl.obolibrary.org/obo/HP_0011761 HP:0011762 biolink:PhenotypicFeature Pituitary thyrotropic cell adenoma A type of pituitary adenoma that produces thyroid stimulating hormone (TSH). UMLS:C4021121 hp.json Pituitary thyrotropinoma http://purl.obolibrary.org/obo/HP_0011762 HP:0011763 biolink:PhenotypicFeature Pituitary carcinoma A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS. MSH:D010911|UMLS:C0346300|SNOMEDCT_US:254955001|SNOMEDCT_US:128665000 hp.json http://purl.obolibrary.org/obo/HP_0011763 HP:0011764 biolink:PhenotypicFeature Pituitary spindle cell oncocytoma A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular. UMLS:C4023200 hp.json http://purl.obolibrary.org/obo/HP_0011764 HP:0011765 biolink:PhenotypicFeature obsolete Ectopic anterior pituitary hp.json http://purl.obolibrary.org/obo/HP_0011765 UBERON:0011584 biolink:AnatomicalEntity zeugopodial skeleton Section of the forelimb skeleton located between the stylopodium and the autopodium. VSAO:0005010 hp.json epipodium|mesomere 2|zygopodium|zeugopod skeleton|skeleton of zeugopod|mesomere 2 skeleton|epipodial skeleton http://purl.obolibrary.org/obo/UBERON_0011584 UBERON:0011583 biolink:AnatomicalEntity stylopodial skeleton Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. VSAO:0005007 hp.json propodial skeleton|proximal metapterygial mesomere|stylopodium skeleton|mesomere 1|stylopod|propodium|stylopodium http://purl.obolibrary.org/obo/UBERON_0011583 UBERON:0011582 biolink:AnatomicalEntity paired limb/fin skeleton The collection of all skeletal elements in an individual limb or fin. VSAO:0000301 hp.json limb/fin skeleton|skeleton of limb/fin|skeletal parts of limb/fin http://purl.obolibrary.org/obo/UBERON_0011582 homology_grouping UBERON:0011588 biolink:AnatomicalEntity pre-enamel Odontogenic tissue that is avascular non-mineralized matrix that is deposited by preameloblast and ameloblasts that are excluded from the matrix. XAO:0004202|VSAO:0000066 hp.json preenamel tissue|pre-enamel tissue http://purl.obolibrary.org/obo/UBERON_0011588 UBERON:0011587 biolink:AnatomicalEntity pre-dentine Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. VSAO:0000071|EMAPA:36439|XAO:0004052 hp.json predentin|predentine tissue|pre-dentine tissue http://purl.obolibrary.org/obo/UBERON_0011587 UBERON:0011585 biolink:AnatomicalEntity cell condensation Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). XAO:0004021|VSAO:0000006 hp.json http://purl.obolibrary.org/obo/UBERON_0011585 HP:0011766 biolink:PhenotypicFeature Abnormality of the parathyroid morphology A structural abnormality of the parathyroid gland. UMLS:C4023199 hp.json http://purl.obolibrary.org/obo/HP_0011766 HP:0008125 biolink:PhenotypicFeature Second metatarsal posteriorly placed UMLS:C1859224 hp.json http://purl.obolibrary.org/obo/HP_0008125 HP:0011767 biolink:PhenotypicFeature Abnormality of the parathyroid physiology A functional abnormality of the parathyroid gland. UMLS:C4023198 hp.json Parathyroid dysfunction|Parathyroid issue http://purl.obolibrary.org/obo/HP_0011767 HP:0008124 biolink:PhenotypicFeature Talipes calcaneovarus A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. SNOMEDCT_US:30449003|MSH:D000070558|UMLS:C0265646 hp.json http://purl.obolibrary.org/obo/HP_0008124 HP:0011768 biolink:PhenotypicFeature Parathyroid dysgenesis Abnormal embryonic development of the parathyroid gland. UMLS:C4023197 hp.json http://purl.obolibrary.org/obo/HP_0011768 HP:0008127 biolink:PhenotypicFeature Bipartite calcaneus A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. UMLS:C1835574 hp.json Delayed coalescence of calcaneal ossification centres|Double calcaneal ossification centre|Delayed coalescence of bipartite calcanei|Extra calcaneal ossification centre|Double calcaneal ossification center|Extra calcaneal ossification center|Delayed coalescence of calcaneal ossification centers|Delayed fusion of bipartite calcanei http://purl.obolibrary.org/obo/HP_0008127 HP:0011769 biolink:PhenotypicFeature Ectopic parathyroid An abnormal anatomical location of the parathyroid gland. UMLS:C4023196 hp.json http://purl.obolibrary.org/obo/HP_0011769 HP:0008122 biolink:PhenotypicFeature Calcaneonavicular fusion Synostosis of the calcaneus with the navicular bone. UMLS:C4024730 hp.json http://purl.obolibrary.org/obo/HP_0008122 HP:0011750 biolink:PhenotypicFeature Neoplasm of the anterior pituitary A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. NCIT:C3262|UMLS:C4023205 hp.json Neoplasm of the adenohypophysis|Neoplasm of the pars anterior http://purl.obolibrary.org/obo/HP_0011750 HP:0011751 biolink:PhenotypicFeature Abnormality of the posterior pituitary An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. UMLS:C4023204 hp.json Abnormality of the neurohypophysis http://purl.obolibrary.org/obo/HP_0011751 HP:0011752 biolink:PhenotypicFeature Neoplasm of the posterior pituitary The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis. NCIT:C3262|UMLS:C1334957 hp.json Neoplasm of the neurohypophysis http://purl.obolibrary.org/obo/HP_0011752 HP:0011753 biolink:PhenotypicFeature Posterior pituitary dysgenesis Abnormal development of the neurohypophysis during embryonic growth and development. UMLS:C4021123 hp.json Posterior pituitary dysplasia|Neurohypophysis dysplasia http://purl.obolibrary.org/obo/HP_0011753 HP:0011754 biolink:PhenotypicFeature Pituicytoma A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern. SNOMEDCT_US:450901008|UMLS:C2986550|ICD-O:9432/1|SNOMEDCT_US:608817003 hp.json http://purl.obolibrary.org/obo/HP_0011754 HP:0033103 biolink:PhenotypicFeature Elevated circulating CHI3L1 level Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation. hp.json Elevated circulating YKL40 level|Elevated circulating chitinase 3-like 1 level http://purl.obolibrary.org/obo/HP_0033103 HP:0033102 biolink:PhenotypicFeature Monkey wrench femoral neck The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle. hp.json Swedish key appearance of femoral neck|Swedish key configuration of the proximal femur|Monkey wrench appearance of femoral neck|Monkey wrench configuration of the proximal femur http://purl.obolibrary.org/obo/HP_0033102 HP:0033105 biolink:PhenotypicFeature Interhypothalamic Adhesion An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle. hp.json Hypothalamic adhesion http://purl.obolibrary.org/obo/HP_0033105 HP:0033104 biolink:PhenotypicFeature Inappropriate absence of fever Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response. hp.json http://purl.obolibrary.org/obo/HP_0033104 UBERON:0011576 biolink:AnatomicalEntity supraorbital ridge The superior half of the orbital rim, which constitutes the curved superior border of the orbital opening, formed by the frontal bone. FMA:317104|UMLS:C2826587|NCIT:C82953 hp.json supraorbital arch|supra-orbital ridge|supraorbital torus|supra-orbital margin of frontal bone|supra-orbital margin|eyebrow bone|margo supraorbitalis (os frontale)|supra-orbital border of frontal bone|supraorbital margin of frontal bone|superior orbital rim|orbital ridge|frontal torus|supraorbital margin|supraorbital surface of frontal bone|frontal torus|superciliary ridge|supraorbital torus|margin of the orbit|supraorbital margin|arcus superciliaris|margo supraorbitalis http://purl.obolibrary.org/obo/UBERON_0011576 pheno_slim HP:0033101 biolink:PhenotypicFeature Elevated urine aconitic acid level An abnormally increased level of aconitic acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033101 UBERON:0011575 biolink:AnatomicalEntity styloid process of ulna The styloid process of the ulna projects from the medial and back part of the bone; it descends a little lower than the head, and its rounded end affords attachment to the ulnar collateral ligament of the wrist[WP,unvetted]. FMA:23628 hp.json processus styloideus ulnae|processus styloideus ulnae|ulnar styloid process http://purl.obolibrary.org/obo/UBERON_0011575 pheno_slim UBERON:0011574 biolink:AnatomicalEntity mesonephric duct lumen A tube lumen that is part of a mesonephric duct. EHDAA2:0001244 hp.json cavity of nephric duct|nephric duct lumen http://purl.obolibrary.org/obo/UBERON_0011574 HP:0033100 biolink:PhenotypicFeature Increased proteinogenic amino acid level in urine An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. hp.json http://purl.obolibrary.org/obo/HP_0033100 HP:0033107 biolink:PhenotypicFeature Abnormal circulating proteinogenic amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. hp.json http://purl.obolibrary.org/obo/HP_0033107 HP:0033106 biolink:PhenotypicFeature Elevated circulating D-dimer concentration An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. hp.json Elevated D-dimers|Elevated fibrin degradation fragment concentration http://purl.obolibrary.org/obo/HP_0033106 HP:0033109 biolink:PhenotypicFeature Abnormal circulating non-proteinogenic amino acid concentration Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. hp.json http://purl.obolibrary.org/obo/HP_0033109 HP:0033108 biolink:PhenotypicFeature Abnormal circulating proteinogenic amino acid derivative concentration Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid. hp.json http://purl.obolibrary.org/obo/HP_0033108 HP:0011755 biolink:PhenotypicFeature Ectopic posterior pituitary An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. UMLS:C3279571|UMLS:C4053775|SNOMEDCT_US:715727009 hp.json Ectopic neurohypophysis http://purl.obolibrary.org/obo/HP_0011755 HP:0011756 biolink:PhenotypicFeature Posterior pituitary agenesis Absence of the neurohypophysis owing to a developmental defect. UMLS:C4023203 hp.json Neurohypophysis agenesis http://purl.obolibrary.org/obo/HP_0011756 HP:0011757 biolink:PhenotypicFeature Posterior pituitary hypoplasia Underdevelopment of the neurohypophysis. UMLS:C4023202 hp.json Neurohypophysis hypoplasia http://purl.obolibrary.org/obo/HP_0011757 HP:0011758 biolink:PhenotypicFeature Pituitary acidophilic stem cell adenoma UMLS:C4023201 hp.json http://purl.obolibrary.org/obo/HP_0011758 HP:0011759 biolink:PhenotypicFeature Pituitary gonadotropic cell adenoma A type of pituitary adenoma that produces gonadotropins. UMLS:C4021122 hp.json Pituitary gonadotropinoma http://purl.obolibrary.org/obo/HP_0011759 CHEBI:26537 biolink:ChemicalSubstance retinoid Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof. hp.json retinoids|retinoid|retinoids http://purl.obolibrary.org/obo/CHEBI_26537 3_STAR HP:0011740 biolink:PhenotypicFeature Glucocortocoid-insensitive primary hyperaldosteronism A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. UMLS:C4023208|UMLS:C4020742 hp.json Familial primary hyperaldosteronism type 2 http://purl.obolibrary.org/obo/HP_0011740 HP:0011741 biolink:PhenotypicFeature Secondary hyperaldosteronism A form of hyperaldosteronism caused by abnormally increased renin levels. SNOMEDCT_US:67805000|UMLS:C0271728 hp.json Hyperreninemic hyperaldosteronism http://purl.obolibrary.org/obo/HP_0011741 HP:0011742 biolink:PhenotypicFeature Ectopic adrenal gland Abnormal anatomical location of the adrenal gland. UMLS:C0266275|SNOMEDCT_US:49494003 hp.json Abnormal adrenal gland position http://purl.obolibrary.org/obo/HP_0011742 HP:0011743 biolink:PhenotypicFeature Adrenal gland agenesis Absent development of the adrenal gland. MSH:C538429|UMLS:C0266273|SNOMEDCT_US:83190008|SNOMEDCT_US:702615004 hp.json http://purl.obolibrary.org/obo/HP_0011743 HP:0033114 biolink:PhenotypicFeature Quadruple gallop rhythm A type of gallop rhytm in which both the third and the fourth sounds are present. hp.json http://purl.obolibrary.org/obo/HP_0033114 HP:0033113 biolink:PhenotypicFeature Gallop rhythm In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse. hp.json Triple rhythm http://purl.obolibrary.org/obo/HP_0033113 UBERON:0035597 biolink:AnatomicalEntity profundal placode An embryonic structure positioned halfway between the prospective eye and ear, adjacent to the future midbrain-hindbrain boundary. The profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24. XAO:0004093 hp.json ophthalmic placode|profundus placode|ophthalmic lobe of trigeminal placode complex|ophthalmic lobe of trigeminal placode http://purl.obolibrary.org/obo/UBERON_0035597 HP:0033116 biolink:PhenotypicFeature Duodenal gastric metaplasia Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border. hp.json http://purl.obolibrary.org/obo/HP_0033116 HP:0033115 biolink:PhenotypicFeature Elevated circulating tenascin-C level Abnormally increased concentration of tenascin-C in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033115 UBERON:0011566 biolink:AnatomicalEntity lumen of esophagus An anatomical cavity that is part of a esophagus. SCTID:322648002|FMA:9398|EMAPA:18380 hp.json esophagus lumen|cavity of eosophagus|eosophagus lumen|esophageal cavity|eosophageal cavity|eosophageal lumen|esophageal lumen|cavity of esophagus http://purl.obolibrary.org/obo/UBERON_0011566 pheno_slim HP:0033110 biolink:PhenotypicFeature Elevated circulating alpha-aminobutyric acid concentration An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2. hp.json Elevated circulating homoalanine concentration http://purl.obolibrary.org/obo/HP_0033110 UBERON:0011565 biolink:AnatomicalEntity lumen of gastrointestinal system SCTID:432899004|FMA:54364 hp.json cavity of gastrointestinal tract|gastrointestinal tract lumen|cavity of digestive tract|lumen of gastrointestinal tract http://purl.obolibrary.org/obo/UBERON_0011565 HP:0033112 biolink:PhenotypicFeature Elevated circulating apolipoprotein C-III concentration An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. hp.json Elevated apolipoprotein C-III level|Elevated APOC3 level http://purl.obolibrary.org/obo/HP_0033112 HP:0033111 biolink:PhenotypicFeature 3-hydroxyisovaleric aciduria Concentration of 3-hydroxyisovaleric acid in the urine above the normal range. hp.json Increased urine 3-hydroxyisovaleric acid level http://purl.obolibrary.org/obo/HP_0033111 HP:0008107 biolink:PhenotypicFeature Plantar crease between first and second toes The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. UMLS:C1867132 hp.json http://purl.obolibrary.org/obo/HP_0008107 HP:0033118 biolink:PhenotypicFeature Abnormal right ventricular function Anomalous physiology (function) of the right ventricle. hp.json http://purl.obolibrary.org/obo/HP_0033118 HP:0033117 biolink:PhenotypicFeature Duodenitis Inflammation of the lining of the upper small intestine (duodenum). hp.json http://purl.obolibrary.org/obo/HP_0033117 HP:0008108 biolink:PhenotypicFeature Advanced tarsal ossification Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. UMLS:C4280417|UMLS:C1849293 hp.json Precociously ossified tarsal bones|Accelerated ankle bone maturation http://purl.obolibrary.org/obo/HP_0008108 HP:0033119 biolink:PhenotypicFeature Elevated right ventricular systolic pressure Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg. hp.json http://purl.obolibrary.org/obo/HP_0033119 HP:0011744 biolink:PhenotypicFeature Secondary hypercortisolism Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol. UMLS:C4023207|UMLS:C4020741 hp.json ACTH-dependent hypercortisolemia http://purl.obolibrary.org/obo/HP_0011744 HP:0008103 biolink:PhenotypicFeature Delayed tarsal ossification Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. UMLS:C4280418|UMLS:C1846853 hp.json Delayed ankle bone maturation|Tarsal delayed ossification http://purl.obolibrary.org/obo/HP_0008103 HP:0011745 biolink:PhenotypicFeature Non-secretory adrenocortical adenoma An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones. UMLS:C4021126 hp.json Non-secretory adrenal adenoma http://purl.obolibrary.org/obo/HP_0011745 HP:0008102 biolink:PhenotypicFeature Expanded metatarsals with widened medullary cavities UMLS:C1969289 hp.json http://purl.obolibrary.org/obo/HP_0008102 HP:0011746 biolink:PhenotypicFeature Secretory adrenocortical adenoma An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones. UMLS:C4021125 hp.json Secretory adrenal adenoma http://purl.obolibrary.org/obo/HP_0011746 HP:0011747 biolink:PhenotypicFeature Abnormality of the anterior pituitary An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. SNOMEDCT_US:399244003|UMLS:C0032002|MSH:D010900|UMLS:C4023206 hp.json Pituitary disease http://purl.obolibrary.org/obo/HP_0011747 HP:0011748 biolink:PhenotypicFeature Adrenocorticotropic hormone deficiency A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. MSH:C535668|UMLS:C0342388|SNOMEDCT_US:237692001 hp.json Corticotropin deficiency|ACTH deficiency http://purl.obolibrary.org/obo/HP_0011748 HP:0011749 biolink:PhenotypicFeature Adrenocorticotropic hormone excess Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. UMLS:C4021124 hp.json ACTH excess http://purl.obolibrary.org/obo/HP_0011749 HP:0008161 biolink:PhenotypicFeature Absent leukocyte alkaline phosphatase Alkaline phosphatase levels measured within leukocytes is below detectable levels. UMLS:C4024724 hp.json Absent leukocyte ALP http://purl.obolibrary.org/obo/HP_0008161 HP:0008160 biolink:PhenotypicFeature 3-hydroxydicarboxylic aciduria An increase in the level of 3-hydroxydicarboxylic acid in the urine. UMLS:C4024725 hp.json http://purl.obolibrary.org/obo/HP_0008160 HP:0008163 biolink:PhenotypicFeature Decreased circulating cortisol level Abnormally reduced concentration of cortisol in the blood. UMLS:C1836623|UMLS:C1846225|UMLS:C1833054 hp.json Low blood cortisol level|Plasma cortisol low|Hypocortisolemia|Low to undetectable plasma cortisol|Glucocorticoid insufficiency|Decreased cortisol production|Hypocortisolism http://purl.obolibrary.org/obo/HP_0008163 HP:0008162 biolink:PhenotypicFeature Asymptomatic hyperammonemia An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. UMLS:C4021552 hp.json Hyperammonemia, asymptomatic http://purl.obolibrary.org/obo/HP_0008162 PR:P17679 biolink:Protein erythroid transcription factor (mouse) An erythroid transcription factor that is encoded in the genome of mouse. UniProtKB:P17679 hp.json GATA-1 (mouse)|Gata1|Eryf1 (mouse)|GF-1 (mouse)|NF-E1 DNA-binding protein (mouse)|Gf-1|GATA-binding factor 1 (mouse)|mGATA1 http://purl.obolibrary.org/obo/PR_P17679 UBERON:0035523 biolink:AnatomicalEntity anterior surface of prostate The aspect of the prostate facing the pubic symphysis. NCIT:C13089|FMA:19591 hp.json facies anterior (prostatae)|facies anterior prostatae|anterior surface of prostate gland http://purl.obolibrary.org/obo/UBERON_0035523 CHEBI:63534 biolink:ChemicalSubstance monoamine An aralylamino compound which contains one amino group connected to an aromatic ring by a two-carbon chain. Monoamines are derived from aromatic amino acids like phenylalanine, tyrosine, tryptophan, and the thyroid hormones by the action of aromatic amino acid decarboxylase enzymes. PMID:22371656|PMID:22213370|PMID:22082101|PMID:22342987|PMID:22153577|PMID:21993877|PMID:21822758|PMID:22005599|PMID:22218931 hp.json naturally occurring monoamines|naturally occurring monoamine|monoamines http://purl.obolibrary.org/obo/CHEBI_63534 3_STAR CHEBI:63533 biolink:ChemicalSubstance gonadotropin releasing hormone agonist Any drug which binds to gonadotropin-releasing hormone receptors and triggers a response. Wikipedia:Gonadotropin-releasing_hormone_agonist hp.json gonadotrophin releasing hormone agonists|gonadotropin releasing hormone agonists|gonadotrophin releasing hormone agonist|GnRH agonist|GnRH agonists|GnRH-A http://purl.obolibrary.org/obo/CHEBI_63533 3_STAR HP:0008158 biolink:PhenotypicFeature Hyperapobetalipoproteinemia Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. MSH:D006950|SNOMEDCT_US:299465007|SNOMEDCT_US:238040008|UMLS:C0020474 hp.json http://purl.obolibrary.org/obo/HP_0008158 HP:0008153 biolink:PhenotypicFeature Periodic hypokalemic paresis Episodes of muscle weakness associated with reduced levels of potassium in the blood. UMLS:C4021553 hp.json Hypokalemic periodic paresis http://purl.obolibrary.org/obo/HP_0008153 HP:0008155 biolink:PhenotypicFeature Mucopolysacchariduria Excessive amounts of mucopolysaccharide in the urine. UMLS:C4024726 hp.json http://purl.obolibrary.org/obo/HP_0008155 UBERON:0035529 biolink:AnatomicalEntity left common iliac artery FMA:14766|NCIT:C32957 hp.json trunk of left common iliac arterial tree http://purl.obolibrary.org/obo/UBERON_0035529 human_reference_atlas HP:0008169 biolink:PhenotypicFeature Reduced factor VII activity Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. SNOMEDCT_US:37193007|UMLS:C4024722|UMLS:C0015503|MSH:D005168 hp.json Factor VII deficiency http://purl.obolibrary.org/obo/HP_0008169 HP:0008165 biolink:PhenotypicFeature Decreased helper T cell proportion Reduced proportion of helper T cells relative to the total number of T cells. UMLS:C4024723 hp.json Decreased proportion circulating T-helper cells|Reduced helper T cell proportion http://purl.obolibrary.org/obo/HP_0008165 HP:0008167 biolink:PhenotypicFeature Very long chain fatty acid accumulation UMLS:C3279397 hp.json http://purl.obolibrary.org/obo/HP_0008167 HP:0008166 biolink:PhenotypicFeature Decreased beta-galactosidase activity Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. SNOMEDCT_US:238025006|MSH:D016537|UMLS:C0085131|UMLS:C1856559|UMLS:C1854788 hp.json Beta-galactosidase deficiency in fibroblasts and white blood cells|Decreased beta galactosidase activity|Beta-galactosidase-1 deficiency http://purl.obolibrary.org/obo/HP_0008166 HP:0011791 biolink:PhenotypicFeature Inactivating thyroid-stimulating hormone receptor defect Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect. UMLS:C4023187 hp.json Inactivating TSHR defect http://purl.obolibrary.org/obo/HP_0011791 HP:0011792 biolink:PhenotypicFeature Neoplasm by histology Neoplasm categorized according to type of histological abnormality. UMLS:C4023186 hp.json http://purl.obolibrary.org/obo/HP_0011792 HP:0011793 biolink:PhenotypicFeature Neoplasm by anatomical site Neoplasm categorized according to the anatomical site of origin of the neoplasm. UMLS:C4023185 hp.json http://purl.obolibrary.org/obo/HP_0011793 HP:0008141 biolink:PhenotypicFeature Dislocation of toes UMLS:C0434717|SNOMEDCT_US:263030002 hp.json Dislocation of toes http://purl.obolibrary.org/obo/HP_0008141 HP:0011794 biolink:PhenotypicFeature Embryonal renal neoplasm The presence of an embryonal neoplasm of the kidney that primarily affects children. UMLS:C4023184 hp.json http://purl.obolibrary.org/obo/HP_0011794 HP:0011795 biolink:PhenotypicFeature Intralobar nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). UMLS:C1319016|SNOMEDCT_US:405934001 hp.json http://purl.obolibrary.org/obo/HP_0011795 HP:0011796 biolink:PhenotypicFeature Perilobar nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). UMLS:C1319017|SNOMEDCT_US:405935000 hp.json http://purl.obolibrary.org/obo/HP_0011796 HP:0011797 biolink:PhenotypicFeature Papillary renal cell carcinoma type 1 A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. UMLS:C1336839 hp.json http://purl.obolibrary.org/obo/HP_0011797 HP:0011798 biolink:PhenotypicFeature Renal oncocytoma A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. UMLS:C0346255|MSH:C537750|SNOMEDCT_US:254922006 hp.json http://purl.obolibrary.org/obo/HP_0011798 UBERON:0035546 biolink:AnatomicalEntity uveal vein SCTID:149683007|FMA:51797 hp.json ciliary vein http://purl.obolibrary.org/obo/UBERON_0035546 HP:0011790 biolink:PhenotypicFeature Activating thyroid-stimulating hormone receptor defect Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. UMLS:C4023188 hp.json Activating TSHR defect http://purl.obolibrary.org/obo/HP_0011790 UBERON:0035545 biolink:AnatomicalEntity deep lymphatic vessel The tubules that carry lymph throughout the body that are in the interior of the body or limbs. FMA:52012|NCIT:C32439 hp.json deep lymph vessel http://purl.obolibrary.org/obo/UBERON_0035545 CHEBI:63551 biolink:ChemicalSubstance carbohydrate acid derivative anion A carboxylic acid anion resulting from the deprotonation of the carboxy group of a carbohydrate acid derivative. hp.json carbohydrate acid anion derivatives|carbohydrate acid anion derivative|carbohydrate acid derivative anions http://purl.obolibrary.org/obo/CHEBI_63551 3_STAR UBERON:0035539 biolink:AnatomicalEntity esophageal artery Any of several arteries that arise from the aorta and supply blood to the esophagus. FMA:4149|UMLS:C0226294|NCIT:C32535|SCTID:56548006 hp.json aortic esophageal artery|oesophageal artery http://purl.obolibrary.org/obo/UBERON_0035539 human_reference_atlas HP:0011799 biolink:PhenotypicFeature Abnormality of facial soft tissue UMLS:C4023183 hp.json Malformation of facial soft tissue|Deformity of facial soft tissue|Abnormality of facial soft tissue|Anomaly of facial soft tissue http://purl.obolibrary.org/obo/HP_0011799 HP:0008138 biolink:PhenotypicFeature Equinus calcaneus Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. UMLS:C1860449 hp.json Equinus deformity of the calcaneus|Hindfoot equinus http://purl.obolibrary.org/obo/HP_0008138 HP:0008132 biolink:PhenotypicFeature Medial rotation of the medial malleolus UMLS:C3805726 hp.json http://purl.obolibrary.org/obo/HP_0008132 HP:0008131 biolink:PhenotypicFeature Tarsal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. UMLS:C1844848 hp.json Punctate tarsal calcification|Punctate calcifications of tarsals http://purl.obolibrary.org/obo/HP_0008131 HP:0008134 biolink:PhenotypicFeature Irregular tarsal ossification Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. UMLS:C4280415|UMLS:C4021554 hp.json Irregular tarsal centers|Irregular ankle bone maturation|Irregular tarsal centres http://purl.obolibrary.org/obo/HP_0008134 HP:0008133 biolink:PhenotypicFeature Distal tapering of metatarsals UMLS:C4024729 hp.json http://purl.obolibrary.org/obo/HP_0008133 HP:0011780 biolink:PhenotypicFeature Thyroid hemiagenesis Absence of a lobe of the thyroid gland related to a failure of its embryologic development. UMLS:C4023190|SNOMEDCT_US:715734006 hp.json http://purl.obolibrary.org/obo/HP_0011780 HP:0008150 biolink:PhenotypicFeature Elevated serum transaminases during infections Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. UMLS:C1864179 hp.json http://purl.obolibrary.org/obo/HP_0008150 HP:0011781 biolink:PhenotypicFeature Thyroid C cell hyperplasia An abnormal growth of parafollicular (C-cells) cells. UMLS:C0342190|SNOMEDCT_US:237552009 hp.json http://purl.obolibrary.org/obo/HP_0011781 PR:000003918 biolink:Protein albumin A protein that is a translation product of the human ALB gene or a 1:1 ortholog thereof. hp.json GIG42|GIG20|ALB|PRO2675|PRO1708|PRO2044|Alb-1|Alb1|PRO2619|PRO0903|UNQ696/PRO1341|serum albumin http://purl.obolibrary.org/obo/PR_000003918 HP:0011782 biolink:PhenotypicFeature Thyroid crisis UMLS:C0040127|SNOMEDCT_US:29028009|MSH:D013958 hp.json http://purl.obolibrary.org/obo/HP_0011782 HP:0008151 biolink:PhenotypicFeature Prolonged prothrombin time Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. SNOMEDCT_US:409674002|UMLS:C0151872 hp.json Prolonged PT|Increased international normalized ratio|Reduced factor II activity|increased international normalised ratio|Increased international normalised ratio|Low factor II activity|Reduced prothrombin activity|Increased INR http://purl.obolibrary.org/obo/HP_0008151 HP:0011783 biolink:PhenotypicFeature Thyrotoxicosis from ectopic thyroid tissue UMLS:C0154148|SNOMEDCT_US:87232008 hp.json http://purl.obolibrary.org/obo/HP_0011783 HP:0011784 biolink:PhenotypicFeature Thyrotoxicosis with diffuse goiter SNOMEDCT_US:267374005|UMLS:C0342122 hp.json Thyrotoxicosis with diffuse goitre http://purl.obolibrary.org/obo/HP_0011784 HP:0011785 biolink:PhenotypicFeature Thyrotoxicosis with toxic multinodular goiter SNOMEDCT_US:26389007|UMLS:C0154143 hp.json Thyrotoxicosis with toxic multinodular goitre http://purl.obolibrary.org/obo/HP_0011785 HP:0011786 biolink:PhenotypicFeature Thyrotoxicosis with toxic single thyroid nodule UMLS:C0154141|SNOMEDCT_US:69329005|SNOMEDCT_US:73869005 hp.json http://purl.obolibrary.org/obo/HP_0011786 HP:0011787 biolink:PhenotypicFeature Central hypothyroidism A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. UMLS:C0271801|SNOMEDCT_US:26692000 hp.json http://purl.obolibrary.org/obo/HP_0011787 UBERON:0035551 biolink:AnatomicalEntity deep vasculature The part of the circulatory system that lies deep beneath the subcutaneous tissue layers away from the surface of the skin. hp.json deep part of circulatory system http://purl.obolibrary.org/obo/UBERON_0035551 CHEBI:63561 biolink:ChemicalSubstance ketoaldonate derivative A carbohydrate acid derivative anion that is formally obtained from a ketoaldonate. hp.json ketoaldonate derivatives http://purl.obolibrary.org/obo/CHEBI_63561 3_STAR UBERON:0035550 biolink:AnatomicalEntity superficial vein Any of the veins carrying deoxygenated blood from the subcutaneous tissue layers. UMLS:C0226513|Wikipedia:Superficial_vein|FMA:76719|SCTID:341382008|NCIT:C33666 hp.json superficial veins|superficial vessels|superfical vein|superficial veins|superfical vein|superficial vessels http://purl.obolibrary.org/obo/UBERON_0035550 UBERON:0035553 biolink:AnatomicalEntity left cardiac chamber Any chamber of the left side of the heart. FMA:7166|SCTID:362008007 hp.json http://purl.obolibrary.org/obo/UBERON_0035553 UBERON:0035552 biolink:AnatomicalEntity deep vein A blood vessel carrying deoxygenated blood far beneath the skin usually accompanying an artery. SCTID:341484008|NCIT:C32444|UMLS:C0226514|Wikipedia:Deep_vein|FMA:76718 hp.json deep veins|deep veins|deep vessels|deep vessels http://purl.obolibrary.org/obo/UBERON_0035552 UBERON:0035554 biolink:AnatomicalEntity right cardiac chamber Any chamber of the right side of the heart. FMA:7165|SCTID:362007002 hp.json http://purl.obolibrary.org/obo/UBERON_0035554 CHEBI:63563 biolink:ChemicalSubstance oligosaccharide derivative A carbohydrate derivative that is formally obtained from an oligosaccharide. hp.json O-glycosylglycoside derivative|O-glycosylglycoside derivatives|oligosaccharide derivatives http://purl.obolibrary.org/obo/CHEBI_63563 3_STAR UBERON:0035548 biolink:AnatomicalEntity colic artery SCTID:77852007 hp.json http://purl.obolibrary.org/obo/UBERON_0035548 UBERON:0035549 biolink:AnatomicalEntity vasculature of integument The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin. FMA:225275 hp.json superficial vasculature|dermis vasculature|hypodermis vasculature|skin vasculature|vasculature of skin|superficial part of circulatory system|subcutaneous vasculature http://purl.obolibrary.org/obo/UBERON_0035549 human_reference_atlas HP:0011788 biolink:PhenotypicFeature Increased circulating free T3 An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. UMLS:C4021843 hp.json Increased serum free triiodothyronine|Increased circulating free triiodothyronine|Increased serum free T3|Increased serum fT3 http://purl.obolibrary.org/obo/HP_0011788 HP:0011789 biolink:PhenotypicFeature Impaired sensitivity to thyroid stimulating hormone Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH). UMLS:C4023189 hp.json TSHR defect|Thyroid-stimulating hormone receptor defect http://purl.obolibrary.org/obo/HP_0011789 HP:0008148 biolink:PhenotypicFeature Impaired epinephrine-induced platelet aggregation Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. UMLS:C4024727 hp.json http://purl.obolibrary.org/obo/HP_0008148 HP:0008142 biolink:PhenotypicFeature Delayed calcaneal ossification Delayed maturation and calcification of the calcaneus. UMLS:C4280414|UMLS:C4024728 hp.json Delayed heel bone maturation http://purl.obolibrary.org/obo/HP_0008142 HP:0008144 biolink:PhenotypicFeature Flattening of the talar dome UMLS:C1843986 hp.json http://purl.obolibrary.org/obo/HP_0008144 GO:0099531 biolink:BiologicalProcess presynaptic process involved in chemical synaptic transmission The pathway leading to secretion of a neurotransmitter from the presynapse as part of synaptic transmission. hp.json http://purl.obolibrary.org/obo/GO_0099531 gocheck_do_not_annotate|goslim_synapse NCBITaxon:4896 biolink:OrganismalEntity Schizosaccharomyces pombe GC_ID:1 hp.json fission yeast|Schizosaccharomyces malidevorans http://purl.obolibrary.org/obo/NCBITaxon_4896 NCBITaxon:4894 biolink:OrganismalEntity Schizosaccharomycetaceae GC_ID:1 hp.json fission yeasts|Schizosaccharomycetoideae http://purl.obolibrary.org/obo/NCBITaxon_4894 NCBITaxon:4895 biolink:OrganismalEntity Schizosaccharomyces GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_4895 GO:1903353 biolink:BiologicalProcess regulation of nucleus organization Any process that modulates the frequency, rate or extent of nucleus organization. hp.json regulation of nuclear organisation|regulation of nuclear morphology|regulation of nuclear organization and biogenesis|regulation of nucleus organization and biogenesis|regulation of nuclear organization http://purl.obolibrary.org/obo/GO_1903353 GO:1903351 biolink:BiologicalProcess cellular response to dopamine Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dopamine stimulus. hp.json http://purl.obolibrary.org/obo/GO_1903351 GO:1903350 biolink:BiologicalProcess response to dopamine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dopamine stimulus. hp.json http://purl.obolibrary.org/obo/GO_1903350 CHEBI:133610 biolink:ChemicalSubstance N-isobutyrylglycinate A monocarboxylic acid anion that is the conjugate base of N-isobutyrylglycine, obtained by deprotonation of the carboxy group; major species at pH 7.3. HMDB:HMDB0000730 hp.json isobutyrylglycinate|isobutanoylglycinate|N-isobutanoylglycinate|N-(2-methylpropanoyl)glycinate|(2-methylpropanamido)acetate http://purl.obolibrary.org/obo/CHEBI_133610 3_STAR GO:0002625 biolink:BiologicalProcess regulation of T cell antigen processing and presentation Any process that modulates the frequency, rate, or extent of T cell antigen processing and presentation. hp.json regulation of T-cell antigen processing and presentation|regulation of T lymphocyte antigen processing and presentation|regulation of T-lymphocyte antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002625 GO:0099537 biolink:BiologicalProcess trans-synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. hp.json http://purl.obolibrary.org/obo/GO_0099537 goslim_synapse GO:0051596 biolink:BiologicalProcess methylglyoxal catabolic process The chemical reactions and pathways resulting in the breakdown of methylglyoxal, CH3-CO-CHO, the aldehyde of pyruvic acid. MetaCyc:METHGLYUT-PWY|MetaCyc:Methylglyoxal-Detoxification hp.json methylglyoxal breakdown|methylglyoxal catabolism|methylglyoxal degradation http://purl.obolibrary.org/obo/GO_0051596 GO:0099538 biolink:BiologicalProcess synaptic signaling via neuropeptide Cell-cell signaling to or from a synapse, mediated by a peptide. hp.json http://purl.obolibrary.org/obo/GO_0099538 goslim_synapse GO:0002626 biolink:BiologicalProcess negative regulation of T cell antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell antigen processing and presentation. hp.json down regulation of T cell antigen processing and presentation|inhibition of T cell antigen processing and presentation|down-regulation of T cell antigen processing and presentation|negative regulation of T-cell antigen processing and presentation|negative regulation of T lymphocyte antigen processing and presentation|negative regulation of T-lymphocyte antigen processing and presentation|downregulation of T cell antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002626 GO:0002627 biolink:BiologicalProcess positive regulation of T cell antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of T cell antigen processing and presentation. hp.json positive regulation of T-lymphocyte antigen processing and presentation|upregulation of T cell antigen processing and presentation|up regulation of T cell antigen processing and presentation|stimulation of T cell antigen processing and presentation|positive regulation of T-cell antigen processing and presentation|positive regulation of T lymphocyte antigen processing and presentation|activation of T cell antigen processing and presentation|up-regulation of T cell antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002627 GO:0099536 biolink:BiologicalProcess synaptic signaling Cell-cell signaling to, from or within a synapse. hp.json http://purl.obolibrary.org/obo/GO_0099536 goslim_synapse|goslim_drosophila HP:0550003 biolink:PhenotypicFeature Proximal scleroderma Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk. hp.json http://purl.obolibrary.org/obo/HP_0550003 GO:0099540 biolink:BiologicalProcess trans-synaptic signaling by neuropeptide Cell-cell signaling between presynapse and postsynapse mediated by a peptide ligand crossing the synaptic cleft. hp.json http://purl.obolibrary.org/obo/GO_0099540 goslim_synapse HP:0550004 biolink:PhenotypicFeature Verruca plana Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. hp.json Flat wart http://purl.obolibrary.org/obo/HP_0550004 GO:0099541 biolink:BiologicalProcess trans-synaptic signaling by lipid Cell-cell signaling from post to pre-synapse, across the synaptic cleft, mediated by a lipid. hp.json http://purl.obolibrary.org/obo/GO_0099541 goslim_synapse HP:0550005 biolink:PhenotypicFeature Bilateral basilar pulmonary fibrosis It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. hp.json Lung disease with systemic sclerosis|Scleroderma lung disease|Scleroderma of lung http://purl.obolibrary.org/obo/HP_0550005 GO:1903358 biolink:BiologicalProcess regulation of Golgi organization Any process that modulates the frequency, rate or extent of Golgi organization. hp.json regulation of Golgi organisation|regulation of Golgi organization and biogenesis http://purl.obolibrary.org/obo/GO_1903358 GO:0099547 biolink:BiologicalProcess regulation of translation at synapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the synapse. hp.json http://purl.obolibrary.org/obo/GO_0099547 goslim_synapse CHEBI:51569 biolink:ChemicalSubstance N-acyl-amino acid A carboxamide resulting from the formal condensation of a carboxylic acid with the amino group of an amino acid. hp.json acylamino acids|acyl-amino-acids|N-acyl-amino-acids|N-acyl amino acid|N-acyl amino acids|N-acyl-amino-acid|acyl-amino-acid|N-acylamino acid|N-acylamino acids http://purl.obolibrary.org/obo/CHEBI_51569 3_STAR GO:0099512 biolink:CellularComponent supramolecular fiber A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. hp.json fibril http://purl.obolibrary.org/obo/GO_0099512 GO:0002607 biolink:BiologicalProcess regulation of myeloid dendritic cell antigen processing and presentation Any process that modulates the frequency, rate, or extent of myeloid dendritic cell antigen processing and presentation. hp.json http://purl.obolibrary.org/obo/GO_0002607 GO:0002608 biolink:BiologicalProcess negative regulation of myeloid dendritic cell antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid dendritic cell antigen processing and presentation. hp.json downregulation of myeloid dendritic cell antigen processing and presentation|down regulation of myeloid dendritic cell antigen processing and presentation|inhibition of myeloid dendritic cell antigen processing and presentation|down-regulation of myeloid dendritic cell antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002608 GO:0002609 biolink:BiologicalProcess positive regulation of myeloid dendritic cell antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell antigen processing and presentation. hp.json up regulation of myeloid dendritic cell antigen processing and presentation|stimulation of myeloid dendritic cell antigen processing and presentation|up-regulation of myeloid dendritic cell antigen processing and presentation|activation of myeloid dendritic cell antigen processing and presentation|upregulation of myeloid dendritic cell antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002609 GO:0099518 biolink:BiologicalProcess vesicle cytoskeletal trafficking The directed movement of a vesicle along a cytoskeletal fiber such as a microtubule or and actin filament, mediated by motor proteins. hp.json cytoskeletal fiber-based vesicle localization|vesicle cytoskeletal transport http://purl.obolibrary.org/obo/GO_0099518 GO:0002604 biolink:BiologicalProcess regulation of dendritic cell antigen processing and presentation Any process that modulates the frequency, rate, or extent of dendritic cell antigen processing and presentation. hp.json http://purl.obolibrary.org/obo/GO_0002604 GO:0002605 biolink:BiologicalProcess negative regulation of dendritic cell antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of dendritic cell antigen processing and presentation. hp.json down regulation of dendritic cell antigen processing and presentation|inhibition of dendritic cell antigen processing and presentation|down-regulation of dendritic cell antigen processing and presentation|downregulation of dendritic cell antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002605 GO:0099513 biolink:CellularComponent polymeric cytoskeletal fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. hp.json http://purl.obolibrary.org/obo/GO_0099513 GO:0002606 biolink:BiologicalProcess positive regulation of dendritic cell antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of dendritic cell antigen processing and presentation. hp.json upregulation of dendritic cell antigen processing and presentation|up regulation of dendritic cell antigen processing and presentation|stimulation of dendritic cell antigen processing and presentation|up-regulation of dendritic cell antigen processing and presentation|activation of dendritic cell antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002606 GO:0002613 biolink:BiologicalProcess regulation of monocyte antigen processing and presentation Any process that modulates the frequency, rate, or extent of monocyte antigen processing and presentation. hp.json http://purl.obolibrary.org/obo/GO_0002613 CHEBI:133608 biolink:ChemicalSubstance 1-methylhistidine zwitterion An alpha-amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of 1-methylhistidine; major species at pH 7.3. hp.json 2-azaniumyl-3-(1-methyl-1H-imidazol-4-yl)propanoate http://purl.obolibrary.org/obo/CHEBI_133608 3_STAR GO:1903379 biolink:BiologicalProcess regulation of mitotic chromosome condensation Any process that modulates the frequency, rate or extent of mitotic chromosome condensation. hp.json http://purl.obolibrary.org/obo/GO_1903379 CHEBI:133609 biolink:ChemicalSubstance 3-methylhistidine zwitterion An alpha-amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of 3-methylhistidine; major species at pH 7.3. hp.json 2-azaniumyl-3-(1-methyl-1H-imidazol-5-yl)propanoate http://purl.obolibrary.org/obo/CHEBI_133609 3_STAR GO:1903380 biolink:BiologicalProcess positive regulation of mitotic chromosome condensation Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation. hp.json up-regulation of mitotic chromosome condensation|up regulation of mitotic chromosome condensation|activation of mitotic chromosome condensation|upregulation of mitotic chromosome condensation http://purl.obolibrary.org/obo/GO_1903380 GO:0002618 biolink:BiologicalProcess positive regulation of macrophage antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of macrophage antigen processing and presentation. hp.json up regulation of macrophage antigen processing and presentation|stimulation of macrophage antigen processing and presentation|up-regulation of macrophage antigen processing and presentation|activation of macrophage antigen processing and presentation|upregulation of macrophage antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002618 NCBITaxon:4892 biolink:OrganismalEntity Saccharomycetales GC_ID:1 hp.json budding yeasts|Endomycetales http://purl.obolibrary.org/obo/NCBITaxon_4892 NCBITaxon:4893 biolink:OrganismalEntity Saccharomycetaceae GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_4893 NCBITaxon:4890 biolink:OrganismalEntity Ascomycota GC_ID:1|PMID:17572334 hp.json ascomycetes|sac fungi|ascomycetes http://purl.obolibrary.org/obo/NCBITaxon_4890 NCBITaxon:4891 biolink:OrganismalEntity Saccharomycetes GC_ID:1 hp.json Hemiascomycetes http://purl.obolibrary.org/obo/NCBITaxon_4891 GO:0002614 biolink:BiologicalProcess negative regulation of monocyte antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of monocyte antigen processing and presentation. hp.json downregulation of monocyte antigen processing and presentation|down regulation of monocyte antigen processing and presentation|inhibition of monocyte antigen processing and presentation|down-regulation of monocyte antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002614 GO:0002615 biolink:BiologicalProcess positive regulation of monocyte antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of monocyte antigen processing and presentation. hp.json stimulation of monocyte antigen processing and presentation|up regulation of monocyte antigen processing and presentation|up-regulation of monocyte antigen processing and presentation|activation of monocyte antigen processing and presentation|upregulation of monocyte antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002615 GO:0002616 biolink:BiologicalProcess regulation of macrophage antigen processing and presentation Any process that modulates the frequency, rate, or extent of macrophage antigen processing and presentation. hp.json http://purl.obolibrary.org/obo/GO_0002616 GO:0002617 biolink:BiologicalProcess negative regulation of macrophage antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of macrophage antigen processing and presentation. hp.json downregulation of macrophage antigen processing and presentation|down regulation of macrophage antigen processing and presentation|inhibition of macrophage antigen processing and presentation|down-regulation of macrophage antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002617 GO:0099577 biolink:BiologicalProcess regulation of translation at presynapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the presynapse. hp.json http://purl.obolibrary.org/obo/GO_0099577 goslim_synapse GO:0099578 biolink:BiologicalProcess regulation of translation at postsynapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse. hp.json http://purl.obolibrary.org/obo/GO_0099578 goslim_synapse HP:0011730 biolink:PhenotypicFeature Abnormal central sensory function An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. UMLS:C4023215 hp.json Abnormality of central sensory function http://purl.obolibrary.org/obo/HP_0011730 HP:0011731 biolink:PhenotypicFeature Abnormality of circulating cortisol level An abnormality of the concentration of cortisol in the blood. UMLS:C4023214 hp.json http://purl.obolibrary.org/obo/HP_0011731 GO:0099571 biolink:CellularComponent postsynaptic cytoskeleton The portion of the cytoskeleton contained within the postsynapse. hp.json http://purl.obolibrary.org/obo/GO_0099571 goslim_synapse HP:0011732 biolink:PhenotypicFeature Abnormality of adrenal morphology Any structural anomaly of the adrenal glands. UMLS:C4023213 hp.json http://purl.obolibrary.org/obo/HP_0011732 HP:0011733 biolink:PhenotypicFeature Abnormality of adrenal physiology A functional abnormality of the adrenal glands. UMLS:C4023212 hp.json http://purl.obolibrary.org/obo/HP_0011733 HP:0011734 biolink:PhenotypicFeature Central adrenal insufficiency A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. UMLS:C0948387 hp.json Secondary adrenal insufficiency http://purl.obolibrary.org/obo/HP_0011734 CHEBI:38560 biolink:ChemicalSubstance simple protein hp.json simple proteins http://purl.obolibrary.org/obo/CHEBI_38560 3_STAR HP:0011735 biolink:PhenotypicFeature Adrenocorticotropin deficient adrenal insufficiency Adrenal insufficiency secondary to a defect in ACTH production. UMLS:C4023211 hp.json ACTH deficient adrenal insufficiency http://purl.obolibrary.org/obo/HP_0011735 HP:0011736 biolink:PhenotypicFeature Primary hyperaldosteronism A form of hyperaldosteronism caused by a defect within the adrenal gland. SNOMEDCT_US:190507007|SNOMEDCT_US:258117004|MSH:D006929|UMLS:C1384514 hp.json http://purl.obolibrary.org/obo/HP_0011736 HP:0011737 biolink:PhenotypicFeature Corticotropin-releasing hormone deficient adrenal insufficiency Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production. UMLS:C4021127 hp.json Tertiary adrenal insufficiency|CRH deficient adrenal insufficiency http://purl.obolibrary.org/obo/HP_0011737 HP:0011738 biolink:PhenotypicFeature Corticotropin-releasing hormone receptor defect Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor. UMLS:C4023210|UMLS:C4020745 hp.json CRHR defect|Corticotropin-releasing hormone receptor (CRHR) resistance http://purl.obolibrary.org/obo/HP_0011738 HP:0011739 biolink:PhenotypicFeature Dexamethasone-suppressible primary hyperaldosteronism A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. UMLS:C4023209|UMLS:C4020744|UMLS:C4020743 hp.json Glucocorticoid-remediable familial primary aldosteronism|Familial primary hyperaldosteronism type 1 http://purl.obolibrary.org/obo/HP_0011739 GO:0099589 biolink:MolecularActivity serotonin receptor activity Combining with the biogenic amine serotonin and transmitting a signal across a membrane by activating some effector activity. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates. hp.json http://purl.obolibrary.org/obo/GO_0099589 HP:0011720 biolink:PhenotypicFeature Cardiac total anomalous pulmonary venous connection Type 2 total anomalous pulmonary venous connection. UMLS:C4021130|Fyler:0920|Fyler:0930|Fyler:920|Fyler:930 hp.json Cardiac total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, intracardiac|Type 2 total anomalous pulmonary venous connection http://purl.obolibrary.org/obo/HP_0011720 HP:0011721 biolink:PhenotypicFeature Infracardiac total anomalous pulmonary venous connection Type 3 total anomalous pulmonary venous connection. UMLS:C4021129 hp.json Infracardiac total anomalous pulmonary venous connexion|Type 3 total anomalous pulmonary venous connection http://purl.obolibrary.org/obo/HP_0011721 HP:0011722 biolink:PhenotypicFeature Mixed total anomalous pulmonary venous connection Type 4 total anomalous pulmonary venous connection. Fyler:0950|UMLS:C4021128|Fyler:950 hp.json Mixed total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, mixed|Type 4 total anomalous pulmonary venous connection http://purl.obolibrary.org/obo/HP_0011722 HP:0011723 biolink:PhenotypicFeature Congenital malformation of the right heart Defect or defects of the morphogenesis of the right heart identifiable at birth. UMLS:C4023219 hp.json http://purl.obolibrary.org/obo/HP_0011723 HP:0011724 biolink:PhenotypicFeature Uhl's anomaly Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. SNOMEDCT_US:2829000|MSH:C536932|UMLS:C0265857 hp.json http://purl.obolibrary.org/obo/HP_0011724 HP:0011725 biolink:PhenotypicFeature Chaotic multifocal atrial tachycardia UMLS:C4023218 hp.json http://purl.obolibrary.org/obo/HP_0011725 HP:0011726 biolink:PhenotypicFeature Persistent fetal circulation Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course. SNOMEDCT_US:206597007|MSH:D010547|SNOMEDCT_US:35604006|SNOMEDCT_US:233815004|UMLS:C0031190 hp.json Persistent foetal circulation http://purl.obolibrary.org/obo/HP_0011726 HP:0011727 biolink:PhenotypicFeature Peroneal muscle weakness Weakness of the peroneal muscles. UMLS:C0240733 hp.json Fibularis muscle weakness http://purl.obolibrary.org/obo/HP_0011727 HP:0011728 biolink:PhenotypicFeature Elbow clonus Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint. UMLS:C4023217 hp.json http://purl.obolibrary.org/obo/HP_0011728 HP:0011729 biolink:PhenotypicFeature Abnormality of joint mobility An abnormality in the range and ease of motion of joints across their normal range. UMLS:C4023216 hp.json http://purl.obolibrary.org/obo/HP_0011729 GO:0099551 biolink:BiologicalProcess trans-synaptic signaling by neuropeptide, modulating synaptic transmission Cell-cell signaling between presynapse and postsynapse, via the vesicular release and reception of neuropeptide molecules, that modulates the synaptic transmission properties of the synapse. hp.json http://purl.obolibrary.org/obo/GO_0099551 goslim_synapse GO:0099552 biolink:BiologicalProcess trans-synaptic signaling by lipid, modulating synaptic transmission Cell-cell signaling between presynapse and postsynapse, via the release and reception of lipid molecules, that modulates the synaptic transmission properties of the synapse. hp.json http://purl.obolibrary.org/obo/GO_0099552 goslim_synapse HP:0011710 biolink:PhenotypicFeature Bundle branch block Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. MSH:D002037|SNOMEDCT_US:6374002|UMLS:C0006384 hp.json Bundle-branch block http://purl.obolibrary.org/obo/HP_0011710 GO:0099550 biolink:BiologicalProcess trans-synaptic signaling, modulating synaptic transmission Cell-cell signaling between presynapse and postsynapse, across the synaptic cleft, that modulates the synaptic transmission properties of the synapse. hp.json http://purl.obolibrary.org/obo/GO_0099550 goslim_synapse HP:0011719 biolink:PhenotypicFeature Supracardiac total anomalous pulmonary venous connection Type 1 total anomalous pulmonary venous connection. Fyler:910|UMLS:C4021131|Fyler:0910 hp.json Total anomalous pulmonary venous connection, supracardiac|Supracardiac total anomalous pulmonary venous connexion|Type 1 total anomalous pulmonary venous connection http://purl.obolibrary.org/obo/HP_0011719 HP:0011711 biolink:PhenotypicFeature Left anterior fascicular block Conduction block in the anterior division of the left bundle branch of the bundle of His. SNOMEDCT_US:37760005|UMLS:C0264912 hp.json Left anterior hemiblock http://purl.obolibrary.org/obo/HP_0011711 HP:0011712 biolink:PhenotypicFeature Right bundle branch block A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. MSH:D002037|UMLS:C0085615|SNOMEDCT_US:59118001 hp.json Right bundle-branch block http://purl.obolibrary.org/obo/HP_0011712 HP:0011713 biolink:PhenotypicFeature Left bundle branch block A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. SNOMEDCT_US:63467002|MSH:D002037|UMLS:C0023211 hp.json http://purl.obolibrary.org/obo/HP_0011713 HP:0011714 biolink:PhenotypicFeature Libman-Sacks lesions Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve. UMLS:C4023221 hp.json http://purl.obolibrary.org/obo/HP_0011714 HP:0011715 biolink:PhenotypicFeature Trifascicular block Abnormal conduction in all three divisions of the intraventricular conducting tissue. SNOMEDCT_US:86014007|UMLS:C0155707 hp.json http://purl.obolibrary.org/obo/HP_0011715 HP:0011716 biolink:PhenotypicFeature Junctional ectopic tachycardia Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. MSH:D013613|SNOMEDCT_US:419166005|UMLS:C0039235|SNOMEDCT_US:233901002 hp.json http://purl.obolibrary.org/obo/HP_0011716 HP:0011717 biolink:PhenotypicFeature Atrioventricular reentrant tachycardia Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove. UMLS:C4023220 hp.json AV nodal reentry tachycardia http://purl.obolibrary.org/obo/HP_0011717 HP:0011718 biolink:PhenotypicFeature Abnormality of the pulmonary veins An abnormality of the pulmonary veins. UMLS:C0265914|SNOMEDCT_US:199113001|SNOMEDCT_US:111322000|SNOMEDCT_US:128585006 hp.json Abnormality of lung veins http://purl.obolibrary.org/obo/HP_0011718 GO:0099565 biolink:BiologicalProcess chemical synaptic transmission, postsynaptic The part of synaptic transmission occurring in the post-synapse: a signal transduction pathway consisting of neurotransmitter receptor activation and its effects on postsynaptic membrane potential and the ionic composition of the postsynaptic cytosol. hp.json postsynaptic process involved in chemical synaptic transmission http://purl.obolibrary.org/obo/GO_0099565 goslim_synapse|gocheck_do_not_annotate HP:0011708 biolink:PhenotypicFeature Mobitz II atrioventricular block A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval. SNOMEDCT_US:28189009|UMLS:C0155700 hp.json Mobitz type 2 atrioventricular block http://purl.obolibrary.org/obo/HP_0011708 HP:0011709 biolink:PhenotypicFeature Atrioventricular dissociation Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance. UMLS:C0004331|SNOMEDCT_US:50799005|MSH:D006327 hp.json http://purl.obolibrary.org/obo/HP_0011709 HP:0011700 biolink:PhenotypicFeature Automatic atrial tachycardia Chronic supraventricular tachycardia predominantly seen in childhood. MSH:D013612|SNOMEDCT_US:233892002|UMLS:C0039234 hp.json http://purl.obolibrary.org/obo/HP_0011700 HP:0011701 biolink:PhenotypicFeature Multifocal atrial tachycardia Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. UMLS:C0221158|SNOMEDCT_US:49982000 hp.json Ectopic atrial tachycardia|Chaotic atrial tachycardia http://purl.obolibrary.org/obo/HP_0011701 HP:0011702 biolink:PhenotypicFeature Abnormal electrophysiology of sinoatrial node origin An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. UMLS:C4023222|Fyler:7010 hp.json http://purl.obolibrary.org/obo/HP_0011702 HP:0011703 biolink:PhenotypicFeature Sinus tachycardia Heart rate of greater than 100 beats per minute. SNOMEDCT_US:11092001|UMLS:C0039239|MSH:D013616 hp.json Sinus tachy|Sinus tach http://purl.obolibrary.org/obo/HP_0011703 HP:0011704 biolink:PhenotypicFeature Sick sinus syndrome An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. UMLS:C0037052|MSH:D012804|SNOMEDCT_US:36083008 hp.json Sinoatrial node disease http://purl.obolibrary.org/obo/HP_0011704 HP:0011705 biolink:PhenotypicFeature First degree atrioventricular block Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. UMLS:C0085614|SNOMEDCT_US:270492004 hp.json http://purl.obolibrary.org/obo/HP_0011705 GO:0099568 biolink:CellularComponent cytoplasmic region Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. hp.json http://purl.obolibrary.org/obo/GO_0099568 gocheck_do_not_annotate HP:0011706 biolink:PhenotypicFeature Second degree atrioventricular block An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. SNOMEDCT_US:195042002|UMLS:C0264906 hp.json http://purl.obolibrary.org/obo/HP_0011706 HP:0011707 biolink:PhenotypicFeature Mobitz I atrioventricular block Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals). SNOMEDCT_US:54016002|UMLS:C0264907 hp.json Wenckebach block|Mobitz type 1 atrioventricular block http://purl.obolibrary.org/obo/HP_0011707 GO:0099569 biolink:CellularComponent presynaptic cytoskeleton The portion of the cytoskeleton contained within the presynapse. hp.json http://purl.obolibrary.org/obo/GO_0099569 goslim_synapse GO:0002580 biolink:BiologicalProcess regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. hp.json regulation of peptide or polysaccharide antigen processing and presentation via MHC class II http://purl.obolibrary.org/obo/GO_0002580 GO:0002581 biolink:BiologicalProcess negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. hp.json negative regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|down-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|down regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|inhibition of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|downregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0002581 GO:0002582 biolink:BiologicalProcess positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. hp.json up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|activation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|stimulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|positive regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0002582 CHEBI:157668 biolink:ChemicalSubstance carbocyclic fatty acid anion Any fatty acid anion containing a ring composed of carbon atoms. Major microspecies at pH 7.3 hp.json carbocyclic fatty acid http://purl.obolibrary.org/obo/CHEBI_157668 2_STAR OBO:MAXO_0000691 biolink:NamedThing medical oncologist evaluation An assessment by an internist who specializes in the diagnosis and treatment of all types of cancer and other benign and malignant tumors. This specialist decides on and administers therapy for these malignancies, as well as consults with surgeons and radiotherapists on other treatments for cancer. hp.json medical oncology internist evaluation|referral to oncologist|consultation with medical oncologist|medical oncology internist consultation|consultation with medical oncology internist|medical oncologist consultation http://purl.obolibrary.org/obo/MAXO_0000691 OBO:MAXO_0000692 biolink:NamedThing nephrologist evaluation An assessment by an internist who treats disorders of the kidney, high blood pressure, fluid and mineral balance, and dialysis of body wastes when the kidneys do not function. This specialist consults with surgeons about kidney transplantation. hp.json consultation with nephrologist|referral to nephrologist|nephrology internist evaluation|nephrology internist consultation|consultation with nephrology internist|nephrologist consultation http://purl.obolibrary.org/obo/MAXO_0000692 OBO:MAXO_0000690 biolink:NamedThing infectious disease internist evaluation An assessment by an internist who deals with infectious diseases of all types and in all organ systems. Infectious disease specialists may also have expertise in preventive medicine and travel medicine. hp.json infectious disease specialist evaluation|referral to infectious disease internist|infectious disease specialist consultation|consultation with infectious disease specialist http://purl.obolibrary.org/obo/MAXO_0000690 PR:000013246 biolink:Protein prolactin A somatotropin hormone family member that is a translation product of the human PRL gene or a 1:1 ortholog thereof. hp.json PRL http://purl.obolibrary.org/obo/PR_000013246 OBO:MAXO_0000693 biolink:NamedThing pulmonologist evaluation An assessment by an internist who treats diseases of the lungs and airways. The specialist diagnoses and treats cancer, pneumonia, pleurisy, asthma, occupational and environmental diseases, bronchitis, sleep disorders, emphysema and other complex disorders of the lungs. hp.json pulmonary disease internist evaluation|consultation with pulmonary disease specialist|consultation with pulmonary disease internist|pulmonary disease internist consultation|referral to pulmonologist|consultation with pulmonologist|pulmonologist consultation http://purl.obolibrary.org/obo/MAXO_0000693 OBO:MAXO_0000694 biolink:NamedThing rheumatologist evaluation An assessment by an internist who treats diseases of joints, muscle, bones and tendons. This specialist diagnoses and treats arthritis, back pain, muscle strains, common athletic injuries and collagen diseases. hp.json rheumatology specialist evaluation|consultation with rheumatology internist|referral to rhematologist|rheumatology specialist consultation|rheumatologist consultation|consultation with rheumatologist|rheumatology internist evaluation|rheumatology internist consultation http://purl.obolibrary.org/obo/MAXO_0000694 OBO:MAXO_0009023 biolink:NamedThing attention and concentration assessment Evaluation of a patient's concentration or attention to a prompt or test. hp.json http://purl.obolibrary.org/obo/MAXO_0009023 OBO:MAXO_0009024 biolink:NamedThing visuospatial skill assessment Evaluation of a person’s ability to conceptualize and manipulate two- and three-dimensional objects. hp.json http://purl.obolibrary.org/obo/MAXO_0009024 OBO:MAXO_0009021 biolink:NamedThing abstract reasoning assessment Evaluation of a patient's ability to analyze information, detect patterns, detect relationships, or problem solveing abilities on an intangible level. hp.json http://purl.obolibrary.org/obo/MAXO_0009021 PR:000001281 biolink:Protein ADP-ribosyl cyclase A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). PIRSF:PIRSF005736 hp.json http://purl.obolibrary.org/obo/PR_000001281 OBO:MAXO_0009022 biolink:NamedThing memory assessement Evaluation of short-term and long-term emory in a patient. hp.json http://purl.obolibrary.org/obo/MAXO_0009022 OBO:MAXO_0009020 biolink:NamedThing executive function assessment Evaluation of organizing and planning ability, as well as working memory, mental flexibility, list-making, and execution of tasks. hp.json http://purl.obolibrary.org/obo/MAXO_0009020 GO:1905936 biolink:BiologicalProcess regulation of germ cell proliferation Any process that modulates the frequency, rate or extent of germ cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_1905936 OBO:MAXO_0000699 biolink:NamedThing clinical laboratory geneticist evaluation An assessment or consultation by a diplomate certified in Laboratory Genetics and Genomics who directs and interprets both clinical cytogenetic and molecular genetic analyses relevant to the diagnosis and management of human genetic disease. This specialist acts as a consultant in laboratory diagnoses for a broad range of molecular and chromosomal-based disorders, including both inherited and acquired conditions. hp.json http://purl.obolibrary.org/obo/MAXO_0000699 GO:1905937 biolink:BiologicalProcess negative regulation of germ cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of germ cell proliferation. hp.json down-regulation of germ cell proliferation|down regulation of germ cell proliferation|inhibition of germ cell proliferation|downregulation of germ cell proliferation http://purl.obolibrary.org/obo/GO_1905937 GO:1905938 biolink:BiologicalProcess positive regulation of germ cell proliferation Any process that activates or increases the frequency, rate or extent of germ cell proliferation. hp.json up regulation of germ cell proliferation|activation of germ cell proliferation|upregulation of germ cell proliferation|up-regulation of germ cell proliferation http://purl.obolibrary.org/obo/GO_1905938 OBO:MAXO_0000697 biolink:NamedThing clinical biochemical geneticist evaluation An assessment with a specialist who directs and interprets a wide range of specialized, laboratory biochemical genetic analyses relevant to the diagnosis and management of inherited metabolic disorders. The specialist acts as a consultant regarding laboratory diagnosis on a broad range of inborn errors of metabolism. hp.json clinical biochemical geneticist consultation|referral to a clinical biochemical geneticist|consultation with clinical biochemical geneticist http://purl.obolibrary.org/obo/MAXO_0000697 GO:1905939 biolink:BiologicalProcess regulation of gonad development Any process that modulates the frequency, rate or extent of gonad development. hp.json regulation of gonadogenesis http://purl.obolibrary.org/obo/GO_1905939 OBO:MAXO_0000698 biolink:NamedThing clinical genetics and genomics specialist evaluation An assessment with a specialist who provides comprehensive diagnostic, management, therapeutic, and counseling services for individuals and families at risk for clinical disorders with a genetic basis. The specialist is trained to evaluate individuals of all ages for hereditary conditions. hp.json clinical genetics and genomics specialist consultation|consultation with clinical genetics and genomics specialist|clinical geneticist evaluation|referral to a clinical geneticist|clinical geneticist consultation|consultation with clinical geneticist http://purl.obolibrary.org/obo/MAXO_0000698 OBO:MAXO_0009058 biolink:NamedThing examination by a neurologist A direct assessment of a patient's condition by a neurologist that is based on a physical exam, medical history, and the patient's account of symptoms.neurologist. hp.json http://purl.obolibrary.org/obo/MAXO_0009058 OBO:MAXO_0009059 biolink:NamedThing examination by ob/gyn specialist A direct assessment of a patient's condition by an obstetrics and gynecologist specialist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json ob/gyn examination|gynecologist examination|obstetrics examination http://purl.obolibrary.org/obo/MAXO_0009059 OBO:MAXO_0009056 biolink:NamedThing examination by emergency medicine specialst A direct assessment of a patient's condition by an emergency medicine specialist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json emergency medicine specialist examination|emergency department physician examination|ED examination|ER examination|emergency room physician examination http://purl.obolibrary.org/obo/MAXO_0009056 OBO:MAXO_0009057 biolink:NamedThing examination by family medicine specialist A direct assessment of a patient's condition by a family medicine specialist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json http://purl.obolibrary.org/obo/MAXO_0009057 OBO:MAXO_0009054 biolink:NamedThing examination by immunologist A direct assessment of a patient's condition by an immunologist that is based on a physical exam, medical history, and the patient's account of symptoms. NCIT:C74803 hp.json http://purl.obolibrary.org/obo/MAXO_0009054 OBO:MAXO_0009055 biolink:NamedThing examination by dermatologist A direct assessment of a patient's condition by a dermatologist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json dermatologist examination http://purl.obolibrary.org/obo/MAXO_0009055 OBO:MAXO_0009053 biolink:NamedThing medical specialist examination A direct appraisal of a patient's condition by a clinical specialist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json http://purl.obolibrary.org/obo/MAXO_0009053 OBO:MAXO_0009061 biolink:NamedThing examination by otolaryngologist A direct appraisal of a patient's condition by an otolaryngologist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json http://purl.obolibrary.org/obo/MAXO_0009061 OBO:MAXO_0009062 biolink:NamedThing examination by orthopedist A direct appraisal of a patient's condition by an orthopedic specialist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json http://purl.obolibrary.org/obo/MAXO_0009062 GO:1905940 biolink:BiologicalProcess negative regulation of gonad development Any process that stops, prevents or reduces the frequency, rate or extent of gonad development. hp.json down-regulation of gonad development|down-regulation of gonadogenesis|negative regulation of gonadogenesis|down regulation of gonad development|down regulation of gonadogenesis|downregulation of gonad development|inhibition of gonad development|inhibition of gonadogenesis|downregulation of gonadogenesis http://purl.obolibrary.org/obo/GO_1905940 GO:1905941 biolink:BiologicalProcess positive regulation of gonad development Any process that activates or increases the frequency, rate or extent of gonad development. hp.json up regulation of gonadogenesis|activation of gonadogenesis|positive regulation of gonadogenesis|upregulation of gonad development|upregulation of gonadogenesis|up-regulation of gonad development|up-regulation of gonadogenesis|up regulation of gonad development|activation of gonad development http://purl.obolibrary.org/obo/GO_1905941 OBO:MAXO_0009060 biolink:NamedThing examination by ophthalmologist A direct appraisal of a patient's condition by a ophthalmologist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json ophthalmologist examination http://purl.obolibrary.org/obo/MAXO_0009060 PR:000050216 biolink:Protein receptor-type tyrosine-protein phosphatase C isoform CD45R A receptor-type tyrosine-protein phosphatase C that is a translation product of a transcript that minimally includes the region encoded by the variable exon 4(A). hp.json PTPRC/iso:CD45R|CD45R http://purl.obolibrary.org/obo/PR_000050216 GO:0002577 biolink:BiologicalProcess regulation of antigen processing and presentation Any process that modulates the frequency, rate, or extent of antigen processing and presentation. hp.json http://purl.obolibrary.org/obo/GO_0002577 GO:0002578 biolink:BiologicalProcess negative regulation of antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation. hp.json down-regulation of antigen processing and presentation|down regulation of antigen processing and presentation|inhibition of antigen processing and presentation|downregulation of antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002578 GO:0002579 biolink:BiologicalProcess positive regulation of antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation. hp.json stimulation of antigen processing and presentation|upregulation of antigen processing and presentation|up-regulation of antigen processing and presentation|up regulation of antigen processing and presentation|activation of antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002579 GO:0051548 biolink:BiologicalProcess negative regulation of keratinocyte migration Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte migration. hp.json down regulation of keratinocyte migration|inhibition of keratinocyte migration|down-regulation of keratinocyte migration|downregulation of keratinocyte migration http://purl.obolibrary.org/obo/GO_0051548 GO:0002573 biolink:BiologicalProcess myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. hp.json myeloid leucocyte differentiation http://purl.obolibrary.org/obo/GO_0002573 GO:0051549 biolink:BiologicalProcess positive regulation of keratinocyte migration Any process that activates or increases the frequency, rate or extent of keratinocyte migration. hp.json upregulation of keratinocyte migration|stimulation of keratinocyte migration|up regulation of keratinocyte migration|activation of keratinocyte migration|up-regulation of keratinocyte migration http://purl.obolibrary.org/obo/GO_0051549 GO:0051546 biolink:BiologicalProcess keratinocyte migration The directed movement of a keratinocyte, epidermal cells which synthesize keratin, from one site to another. hp.json http://purl.obolibrary.org/obo/GO_0051546 GO:0051547 biolink:BiologicalProcess regulation of keratinocyte migration Any process that modulates the frequency, rate or extent of keratinocyte migration. hp.json http://purl.obolibrary.org/obo/GO_0051547 GO:0002572 biolink:BiologicalProcess pro-T cell differentiation The process in which a precursor cell type acquires the specialized features of a pro-T cell. Pro-T cells are the earliest stage of the T cell lineage but are not fully committed. hp.json pro-T lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0002572 GO:1905952 biolink:BiologicalProcess regulation of lipid localization Any process that modulates the frequency, rate or extent of lipid localization. hp.json regulation of lipid localisation http://purl.obolibrary.org/obo/GO_1905952 GO:1905953 biolink:BiologicalProcess negative regulation of lipid localization Any process that stops, prevents or reduces the frequency, rate or extent of lipid localization. hp.json down-regulation of lipid localization|downregulation of lipid localisation|down regulation of lipid localisation|inhibition of lipid localisation|downregulation of lipid localization|negative regulation of lipid localisation|down-regulation of lipid localisation|down regulation of lipid localization|inhibition of lipid localization http://purl.obolibrary.org/obo/GO_1905953 GO:1905954 biolink:BiologicalProcess positive regulation of lipid localization Any process that activates or increases the frequency, rate or extent of lipid localization. hp.json upregulation of lipid localization|up-regulation of lipid localisation|activation of lipid localisation|up regulation of lipid localization|up-regulation of lipid localization|upregulation of lipid localisation|activation of lipid localization|positive regulation of lipid localisation|up regulation of lipid localisation http://purl.obolibrary.org/obo/GO_1905954 GO:1905955 biolink:BiologicalProcess negative regulation of endothelial tube morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of endothelial tube morphogenesis. hp.json downregulation of endothelial tube morphogenesis|down regulation of endothelial tube morphogenesis|inhibition of endothelial tube morphogenesis|down-regulation of endothelial tube morphogenesis http://purl.obolibrary.org/obo/GO_1905955 GO:1905956 biolink:BiologicalProcess positive regulation of endothelial tube morphogenesis Any process that activates or increases the frequency, rate or extent of endothelial tube morphogenesis. hp.json up regulation of endothelial tube morphogenesis|up-regulation of endothelial tube morphogenesis|activation of endothelial tube morphogenesis|upregulation of endothelial tube morphogenesis http://purl.obolibrary.org/obo/GO_1905956 GO:0002544 biolink:BiologicalProcess chronic inflammatory response Inflammation of prolonged duration (weeks or months) in which active inflammation, tissue destruction, and attempts at repair are proceeding simultaneously. Although it may follow acute inflammation, chronic inflammation frequently begins insidiously, as a low-grade, smoldering, often asymptomatic response. hp.json http://purl.obolibrary.org/obo/GO_0002544 HP:0033084 biolink:PhenotypicFeature Abnormal antral follicle count Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve. hp.json http://purl.obolibrary.org/obo/HP_0033084 HP:0033083 biolink:PhenotypicFeature Increased circulating farnesol concentration An elevated level of farnesol in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033083 HP:0033086 biolink:PhenotypicFeature Increased antral follicle count A count of antral follicles that is higher than normal for age. hp.json http://purl.obolibrary.org/obo/HP_0033086 HP:0033085 biolink:PhenotypicFeature Reduced antral follicle count A count of antral follicles that is lower than normal for age. hp.json http://purl.obolibrary.org/obo/HP_0033085 HP:0033080 biolink:PhenotypicFeature Abnormal TSH response to thyrotrophin-releasing hormone stimulation test Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test. hp.json Abnormal TSH response to TRH stimulation test http://purl.obolibrary.org/obo/HP_0033080 HP:0033082 biolink:PhenotypicFeature Reduced TSH response to thyrotrophin-releasing hormone stimulation test A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test. hp.json http://purl.obolibrary.org/obo/HP_0033082 HP:0033081 biolink:PhenotypicFeature Absent TSH response to thyrotrophin-releasing hormone stimulation test Failure to increase serum TSH levels in response to a TRH stimulation test. hp.json http://purl.obolibrary.org/obo/HP_0033081 HP:0033088 biolink:PhenotypicFeature Valinuria Urine valine level above the normal range. hp.json Increased valine in urine http://purl.obolibrary.org/obo/HP_0033088 HP:0033087 biolink:PhenotypicFeature Quotidian fever Fever that occurs at daily intervals. hp.json http://purl.obolibrary.org/obo/HP_0033087 HP:0033089 biolink:PhenotypicFeature Branched-chain aminoaciduria An increased level of a branched chain family amino acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033089 HP:0045063 biolink:PhenotypicFeature Increased PIVKA-II Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells. UMLS:C1112467 hp.json Increased prothrombin induced by vitamin K absence-II http://purl.obolibrary.org/obo/HP_0045063 HP:0045060 biolink:PhenotypicFeature Aplasia/hypoplasia involving bones of the extremities UMLS:C4073181 hp.json http://purl.obolibrary.org/obo/HP_0045060 HP:0045061 biolink:PhenotypicFeature Decreased carnitine level in liver UMLS:C4073182 hp.json http://purl.obolibrary.org/obo/HP_0045061 OBO:MAXO_0000666 biolink:NamedThing allergy and immunology specialist evaluation An assessment by an allergist-immunologist who diagnoses and manages disorders involving immune system conditions such as asthma, anaphylaxis, rhinitis and eczema as well as adverse reactions to drugs, foods and insect stings. An allergist-immunologist also manages immune deficiency diseases and problems related to autoimmune disease, organ transplantation or malignancies of the immune system. hp.json allergy and immunologist consultation|referral to allergist and immunologist|allergy and immunologist doctor evaluation|allergy and immunologist doctor consultation|consultation with allergist|allergist doctor evaluation|allergy and immunology specialist consultation|allergist evaluation|allergist doctor consultation|allergy and immunologist evaluation|consultation with allergy and immunologist|allergist consultation http://purl.obolibrary.org/obo/MAXO_0000666 OBO:MAXO_0000667 biolink:NamedThing anesthesiology specialist evaluation An assessment by a physician who provides anesthesia for patients undergoing surgical, obstetric, diagnostic or therapeutic procedures while monitoring the patient's condition and supporting vital organ functions. The anesthesiologist also diagnoses and treats acute, chronic and/or cancer pain as well as provides resuscitation and medical management for patients with critical illnesses and severe injuries. NCIT:C93067 hp.json consultation with anesthesiologist|referral to anesthesiologist|anesthesiology doctor evaluation|anesthesiologist evaluation|anesthesiology doctor consultation|anesthesiology specialist consultation|anesthesiologist consultation http://purl.obolibrary.org/obo/MAXO_0000667 OBO:MAXO_0000665 biolink:NamedThing medical specialist evaluation A procedure where a medical specialtist healthcare provider, who was not previously involved in a patient's treatment, reviews a patient's medical history, examines the patient, and makes recommendations as to care and treatment. hp.json specialty medical professional evaluation|specialty medical professional consultation http://purl.obolibrary.org/obo/MAXO_0000665 GO:0002548 biolink:BiologicalProcess monocyte chemotaxis The movement of a monocyte in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0002548 OBO:MAXO_0000669 biolink:NamedThing pediatric anesthesiology specialist evaluation An evaluation by an anesthesiologist who specializes in Pediatric Anesthesiology. This specialist provides anesthesia for neonates, infants, children and adolescents undergoing surgical, diagnostic or therapeutic procedures as well as appropriate pre- and post-operative care, advanced life support, and acute pain management. hp.json consultation with pediatric anesthesiologist|pediatric anesthesiologist evaluation|pediatric anesthesiology specialist consultation|pediatric anesthesiologist consultation http://purl.obolibrary.org/obo/MAXO_0000669 GO:0099500 biolink:BiologicalProcess vesicle fusion to plasma membrane Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. hp.json http://purl.obolibrary.org/obo/GO_0099500 HP:0033095 biolink:PhenotypicFeature Increased sulfur amino acid level in urine An elevated level of a sulfur-containing amino acid in the urine. hp.json Increased sulfur-containing amino acid level in urine|Increased sulphur amino acid level in urine http://purl.obolibrary.org/obo/HP_0033095 GO:0099501 biolink:CellularComponent exocytic vesicle membrane The lipid bilayer surrounding an exocytic vesicle. hp.json secretory vesicle membrane http://purl.obolibrary.org/obo/GO_0099501 HP:0033094 biolink:PhenotypicFeature Increased urine glutamate level An increased concentration of glutamate in the urine. hp.json Increased glutamic acid in urine http://purl.obolibrary.org/obo/HP_0033094 HP:0033097 biolink:PhenotypicFeature Increased urine proteinogenic amino acid derivative level An elevated urine level of a compound that is derived from an amino acid. hp.json http://purl.obolibrary.org/obo/HP_0033097 HP:0033096 biolink:PhenotypicFeature Increased aspartate family amino acid level in urine An elevated level of an aspartate family amino acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033096 HP:0033091 biolink:PhenotypicFeature Tyrosinuria An abnormally increased level of tyrosine in the urine. hp.json Increased tyrosine in urine http://purl.obolibrary.org/obo/HP_0033091 HP:0033090 biolink:PhenotypicFeature Increased aromatic amino acid level in urine An elevated level of an aromatic amino acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033090 HP:0033093 biolink:PhenotypicFeature Increased glutamine family amino acid level in urine An elevated level of an glutamine family amino acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033093 HP:0033092 biolink:PhenotypicFeature Increased urine succinate level An increase in the level of succinate in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033092 HP:0033099 biolink:PhenotypicFeature Increased serine family amino acid in urine An increased level of a serine family amino acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033099 HP:0033098 biolink:PhenotypicFeature Increased urinary non-proteinogenic amino acid level An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. hp.json Elevated urinary non-proteinogenic amino acid level http://purl.obolibrary.org/obo/HP_0033098 HP:0045073 biolink:PhenotypicFeature Serositis Inflammation in any serous cavity. hp.json http://purl.obolibrary.org/obo/HP_0045073 HP:0045074 biolink:PhenotypicFeature Thin eyebrow Decreased diameter of eyebrow hairs. hp.json Thin eyebrow|Thin eyebrows http://purl.obolibrary.org/obo/HP_0045074 HP:0045075 biolink:PhenotypicFeature Sparse eyebrow Decreased density/number of eyebrow hairs. hp.json Hypotrichosis of eyebrow|Sparse eyebrows|Sparse eyebrow http://purl.obolibrary.org/obo/HP_0045075 hposlim_core GO:0051560 biolink:BiologicalProcess mitochondrial calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. hp.json mitochondrial calcium ion concentration regulation|calcium ion homeostasis in mitochondria|regulation of calcium ion concentration in mitochondria|regulation of mitochondrial calcium ion concentration|regulation of calcium ion concentration in mitochondrion|calcium ion homeostasis in mitochondrion http://purl.obolibrary.org/obo/GO_0051560 HP:0045079 biolink:PhenotypicFeature Distal femoral metaphyseal irregularity Irregularity of the normally smooth surface of the distal metaphysis of the femur. hp.json Irregular distal femoral metaphyses http://purl.obolibrary.org/obo/HP_0045079 GO:0099503 biolink:CellularComponent secretory vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. hp.json http://purl.obolibrary.org/obo/GO_0099503 goslim_drosophila OBO:MAXO_0000680 biolink:NamedThing internal medicine specialist evaluation An assessment by a personal physician who provides long-term, comprehensive care in the office and in the hospital, managing both common and complex illnesses of adolescents, adults and the elderly. Internists are trained in the diagnosis and treatment of cancer, infections and diseases affecting the heart, blood, kidneys, joints and the digestive, respiratory and vascular systems. Internists are also trained in the essentials of primary care internal medicine, which incorporates an understanding of disease prevention, wellness, substance abuse, mental health and effective treatment of common problems of the eyes, ears, skin, nervous system and reproductive organs. hp.json referral to an internal medicine specialist|consultation with internist|internal medicine specialist consultation|internist evaluation|internist consultation|consultation with internal medicine specialist|referral to an internist http://purl.obolibrary.org/obo/MAXO_0000680 GO:0002522 biolink:BiologicalProcess leukocyte migration involved in immune response The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response. hp.json leukocyte trafficking during immune response|immune cell migration during immune response|leucocyte migration during immune response|leucocyte trafficking during immune response|immune cell trafficking during immune response http://purl.obolibrary.org/obo/GO_0002522 GO:0002523 biolink:BiologicalProcess leukocyte migration involved in inflammatory response The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response. hp.json leukocyte trafficking during inflammatory response|immune cell migration during inflammatory response|leucocyte migration during inflammatory response|leukocyte migration during inflammatory response|leucocyte trafficking during inflammatory response|immune cell trafficking during inflammatory response http://purl.obolibrary.org/obo/GO_0002523 OBO:MAXO_0000681 biolink:NamedThing adolescent medicine specialist evaluation An assessment with a multidisciplinary health care specialist trained in the unique physical, psychological and social characteristics of adolescents, their health care problems and needs. hp.json evaluation by adolescent medicine specialist|consultation with adolescent medicine specialist|referral to adolescent medicine specialist|adolescent medicine specialist evaluation|adolescent medicine specialist consultation|assessment by adolescent medicine specialist http://purl.obolibrary.org/obo/MAXO_0000681 OBO:MAXO_0000684 biolink:NamedThing critical care medicine internist evaluation An assessment with an internist trained in critical care medicine who has expertise in the diagnosis, treatment and support of critically ill and injured patients, particularly trauma victims and patients with multiple organ dysfunction. hp.json referral to critical care internist|consultation with internal medicine critical care medicine specialist|consultation with critical care medicine internist|internal medicine critical care medicine evaluation|internal medicine critical care medicine consultation http://purl.obolibrary.org/obo/MAXO_0000684 OBO:MAXO_0009018 biolink:NamedThing neuropsychological assessment Evaluation for cognitive impairment by assessing the neuropsychological domains. hp.json http://purl.obolibrary.org/obo/MAXO_0009018 OBO:MAXO_0000685 biolink:NamedThing endocrinologist evaluation An assessment with an internist who specializes in the diagnosis and management of disorders of hormones and their actions, metabolic disorders, and neoplasia of the endocrine glands. This specialist cares for patients with diabetes mellitus, thyroid disorders, disorders of calcium and bone, hyperlipidemia, obesity and nutritional disorders, pituitary disorders, reproductive and gonadal disorders, adrenal diseases, and endocrine hypertension. hp.json endocrinology, diabetes and metabolism specialist consultation|consultation with endocrinology, diabetes and metabolism specialist|endocrinologist consultation|referral to endocrinologist|consultation with endocrinologist|endocrinology, diabetes and metabolism specialist evaluation http://purl.obolibrary.org/obo/MAXO_0000685 OBO:MAXO_0009019 biolink:NamedThing language assessment Evaluation of patient's cominucation involving naming, reading, writing, and repeating words. hp.json http://purl.obolibrary.org/obo/MAXO_0009019 OBO:MAXO_0000682 biolink:NamedThing cardiovascular disease internist evaluation An assessment by an internist who specializes in diseases of the heart and blood vessels and manages complex cardiac conditions, such as heart attacks and life-threatening, abnormal heartbeat rhythms. hp.json assessment by cardiologist|consultation with internal medicine cardiovascular disease specialist|cardiologist referral|evaluation by cardiologist|consultation with cardiovascular disease internist|internal medicine cardiovascular disease specialist consultation|cardiologist evaluation|referral to cardiovascular disease internist|cardiovascular disease internist evaluation|consultation with cardiologist|referral to cardiologist|cardiologist consultation|cardiovascular disease internist consultation http://purl.obolibrary.org/obo/MAXO_0000682 GO:0002520 biolink:BiologicalProcess immune system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. hp.json http://purl.obolibrary.org/obo/GO_0002520 goslim_drosophila OBO:MAXO_0000683 biolink:NamedThing clinical cardiac electrophysiologist evaluation An assessment by a specialist who specializes in intricate technical procedures to evaluate heart rhythms and determine appropriate treatment. hp.json consultation with clinical cardiac electrophysiology specialist|internal medicine clinical cardiac electrophysiology specialist evaluation|internal medicine clinical cardiac electrophysiology specialist consultation|referral to a clinical electrophysiologist|internal medicine clinical cardiac electrophysiologist consultation|consultation with clinical cardiac electrophysiologist http://purl.obolibrary.org/obo/MAXO_0000683 GO:0002521 biolink:BiologicalProcess leukocyte differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. hp.json leucocyte differentiation|immune cell differentiation http://purl.obolibrary.org/obo/GO_0002521 OBO:MAXO_0009017 biolink:NamedThing cognitive assessment A set of tests or assessments to determine congnitive abilities of a patient. hp.json cognitive tests http://purl.obolibrary.org/obo/MAXO_0009017 HP:0045090 biolink:PhenotypicFeature Minor finding In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential. hp.json http://purl.obolibrary.org/obo/HP_0045090 HP:0045084 biolink:PhenotypicFeature Limb myoclonus hp.json Myoclonus of limbs http://purl.obolibrary.org/obo/HP_0045084 HP:0045085 biolink:PhenotypicFeature Atrophy of masseter muscle hp.json Atrophied masseter muscle|Masseter muscle atrophy http://purl.obolibrary.org/obo/HP_0045085 HP:0045086 biolink:PhenotypicFeature Knee joint hypermobility The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). hp.json Knee joint over-flexibility http://purl.obolibrary.org/obo/HP_0045086 HP:0045087 biolink:PhenotypicFeature Hip joint hypermobility hp.json http://purl.obolibrary.org/obo/HP_0045087 PR:000001289 biolink:Protein membrane-spanning 4-domains subfamily A member 1 A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. PIRSF:PIRSF001995|IUPHARobj:2628 hp.json MS4A1|B-lymphocyte surface antigen B1|B-lymphocyte antigen CD20|B-cell surface antigen CD20|Ly-44|Ms4a2|CD20|lymphocyte antigen 44|leukocyte surface antigen Leu-16|Bp35|B-cell differentiation antigen Ly-44 http://purl.obolibrary.org/obo/PR_000001289 HP:0045080 biolink:PhenotypicFeature Decreased proportion of CD3-positive T cells Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells. hp.json Decreased proportion of CD3+ T cells http://purl.obolibrary.org/obo/HP_0045080 HP:0045081 biolink:PhenotypicFeature Abnormality of body mass index Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages. hp.json Abnormal BMI|Abnormal body mass index http://purl.obolibrary.org/obo/HP_0045081 HP:0045082 biolink:PhenotypicFeature Decreased body mass index Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. hp.json Decreased BMI http://purl.obolibrary.org/obo/HP_0045082 HP:0045083 biolink:PhenotypicFeature obsolete Increased body mass index hp.json http://purl.obolibrary.org/obo/HP_0045083 OBO:MAXO_0000688 biolink:NamedThing hematologist evaluation An assessment by an internist with additional training who specializes in diseases of the blood, spleen and lymph. This specialist treats conditions such as anemia, clotting disorders, sickle cell disease, hemophilia, leukemia and lymphoma. hp.json hematology specialist consultation|hematologist consultation|consultation with hematologist|referral to hematologist|hematology specialist evaluation http://purl.obolibrary.org/obo/MAXO_0000688 OBO:MAXO_0000686 biolink:NamedThing gastroenterologist evaluation An evaluation with an internist who specializes in diagnosis and treatment of diseases of the digestive organs including the stomach, bowels, liver and gallbladder. This specialist treats conditions such as abdominal pain, ulcers, diarrhea, cancer and jaundice and performs complex diagnostic and therapeutic procedures using endoscopes to visualize internal organs. hp.json consultation with gastroenterologist|referral to gastroenterologist|gastroenterologist consultation|gastroenterology specialist evaluation|consultation with gastroenterology specialist http://purl.obolibrary.org/obo/MAXO_0000686 HP:0045088 biolink:PhenotypicFeature Clinical relevance Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis. hp.json http://purl.obolibrary.org/obo/HP_0045088 GO:0002526 biolink:BiologicalProcess acute inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. hp.json http://purl.obolibrary.org/obo/GO_0002526 HP:0045089 biolink:PhenotypicFeature Distinctive finding In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential. hp.json http://purl.obolibrary.org/obo/HP_0045089 OBO:MAXO_0000670 biolink:NamedThing colon and rectal surgery specialist evaluation An assessment by a colon and rectal surgeon who diagnoses and treats various diseases of the small intestine, colon, rectum, anal canal and perianal area including the organs and tissues related with primary intestinal diseases (liver, urinary and female reproductive system). This specialist treats conditions such as hemorrhoids, fissures (painful tears in the anal lining), abscesses and fistulas (infections located around the anus and rectum). A colon and rectal surgeon diagnoses and treats problems of the intestine and colon such as cancer, polyps (precancerous growths) and inflammatory conditions. hp.json referral to a colon and rectal surgeon|colon and rectal surgery specialist consultation|colon and rectal surgeon evaluation|colon and rectal surgeon consultation|colorectal surgeon evaluation|consultation with colon and rectal surgery specialist|colorectal surgeon consultation|consultation with colorectal surgeon|referral to colorectal surgeon|consultation with colon and rectal surgeon http://purl.obolibrary.org/obo/MAXO_0000670 GO:0002534 biolink:BiologicalProcess cytokine production involved in inflammatory response The synthesis or release of a cytokine following a inflammatory stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. hp.json cytokine production involved in acute inflammatory response http://purl.obolibrary.org/obo/GO_0002534 gocheck_do_not_annotate OBO:MAXO_0009009 biolink:NamedThing prenatal renal ultrasonography The use of ultrasound on a pregnant person to produce images of structures in the kidney of the fetus. hp.json fetal kidney ultrsonography|fetal renal ultrasonography|prenatal renal sonography|prenatal kidney ultrasonography http://purl.obolibrary.org/obo/MAXO_0009009 GO:0002536 biolink:BiologicalProcess respiratory burst involved in inflammatory response A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels. hp.json respiratory burst involved in acute inflammatory response|oxidative burst during acute inflammatory response|production of reactive oxygen species during acute inflammatory response http://purl.obolibrary.org/obo/GO_0002536 OBO:MAXO_0009007 biolink:NamedThing fetal echocardiography Fetal echocardiography is a test that uses sound waves (ultrasound) to evaluate the structure and function of the fetus's heart. hp.json prenatal echocardiagraphy|prenatal echo procedure|fetal echo procedure|fetal echocardiogram procedure http://purl.obolibrary.org/obo/MAXO_0009007 OBO:MAXO_0000673 biolink:NamedThing family medicine specialist evaluation An assessment by a physician who provides front-line health care that is accessible, high quality, comprehensive and continuous over time for people of all ages, life stages, backgrounds and conditions. The specialists care for individuals and for entire families, from birth through the end of life, including a broad range of preventive care; healthy lifestyle counseling; mental health care; care of acute illnesses; management of chronic diseases, including patients with multi-morbidity. When needed, they also provide referral and coordination of care with other specialists. hp.json family medicine specialist consultation|consultation with family medicine specialist http://purl.obolibrary.org/obo/MAXO_0000673 OBO:MAXO_0009008 biolink:NamedThing Doppler ultrasonography An application of diagnostic ultrasound used to detect moving blood cells or other moving structures and measure their direction and speed of movement. The Doppler effect is used to evaluate movement by measuring changes in frequency of the echoes reflected from moving structures. hp.json http://purl.obolibrary.org/obo/MAXO_0009008 OBO:MAXO_0000671 biolink:NamedThing dermatology specialist evaluation An assessment by a physician with training and expertise in the diagnosis and medical/surgical management of diseases of the skin, hair and nails, and mucous membranes. hp.json dermatologist evaluation|referral to a dermatologist|consultation with a dermatologist|dermatologist consultation|dermatology specialist consultation http://purl.obolibrary.org/obo/MAXO_0000671 GO:0002532 biolink:BiologicalProcess production of molecular mediator involved in inflammatory response The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. hp.json production of molecular mediator involved in acute inflammatory response|production of cellular mediator of acute inflammation http://purl.obolibrary.org/obo/GO_0002532 OBO:MAXO_0000672 biolink:NamedThing emergency medicine specialist evaluation An assessment by a physician who specializes in immediate decision making and action necessary to prevent death or any further disability both in the pre-hospital setting by directing emergency medical technicians and in the emergency department. This specialist provides immediate recognition, evaluation, care, stabilization and disposition of a generally diversified population of adult and pediatric patients in response to acute illness and injury. hp.json emergency room doctor evaluation|assessment by emergency medicine specialist|emergency medicine specialist assessment http://purl.obolibrary.org/obo/MAXO_0000672 OBO:MAXO_0009006 biolink:NamedThing clinical whole genome sequencing A procedure that can determine the DNA sequence for coding and non-coding regions in an individual. hp.json WGS|genome sequencing|whole genome sequncing http://purl.obolibrary.org/obo/MAXO_0009006 OBO:MAXO_0009003 biolink:NamedThing preimplantation genetic testing Genetic testing of one or more cells removed from early embryos conceived by in vitro fertilization and transferring to the mother's uterus only those embryos determined not to have the pathogenic variant(s)/chromosome anomaly(ies) of concern. hp.json preimplantation genetic screening|preimplation genetic diagnosis|PGD|PGT|PGS http://purl.obolibrary.org/obo/MAXO_0009003 OBO:MAXO_0009004 biolink:NamedThing clinical whole-exome sequencing A procedure that can determine the DNA sequence for all of the exons (protein coding region) in an individual. NCIT:C101295 hp.json WES|WXS|exome sequencing|whole exome sequencing http://purl.obolibrary.org/obo/MAXO_0009004 GO:1903337 biolink:BiologicalProcess positive regulation of vacuolar transport Any process that activates or increases the frequency, rate or extent of vacuolar transport. hp.json upregulation of vacuolar transport|up regulation of vacuolar transport|up-regulation of vacuolar transport|activation of vacuolar transport http://purl.obolibrary.org/obo/GO_1903337 GO:1903336 biolink:BiologicalProcess negative regulation of vacuolar transport Any process that stops, prevents or reduces the frequency, rate or extent of vacuolar transport. hp.json inhibition of vacuolar transport|down-regulation of vacuolar transport|downregulation of vacuolar transport|down regulation of vacuolar transport http://purl.obolibrary.org/obo/GO_1903336 GO:1903335 biolink:BiologicalProcess regulation of vacuolar transport Any process that modulates the frequency, rate or extent of vacuolar transport. hp.json http://purl.obolibrary.org/obo/GO_1903335 OBO:MAXO_0000677 biolink:NamedThing pain medicine specialist evaluation An assessment by a physician who diagnoses and treats patients experiencing problems with acute or chronic pain, or pain related to cancer, in both hospital and outpatient settings and coordinates care needs with other specialists. hp.json assessment by pain medicine specialist|evaluation by pain medicine specialist|consultation with pain medicine specialist|referral to a pain medicine specialist|pain medicine specialist consultation http://purl.obolibrary.org/obo/MAXO_0000677 OBO:MAXO_0000678 biolink:NamedThing sports medicine specialist evaluation An assesment a specialist focuses on preventing, diagnosing, and treating injuries related to participating in sports and/or exercise. In addition to the study of those fields that focus on prevention, diagnosis, treatment, and management of injuries, Sports Medicine specialists also deal with illnesses and diseases that might have effects on health and physical performance. hp.json consultation with sports medicine specialist|referral to a sports medicine specialist|sports medicine specialist consultation http://purl.obolibrary.org/obo/MAXO_0000678 OBO:MAXO_0000675 biolink:NamedThing geriatric medicine specialist evaluation An assessment by a physician with special knowledge of the aging process and special skills in the diagnostic, therapeutic, preventive and rehabilitative aspects of illness in the elderly. This specialist cares for geriatric patients in the patient’s home, the office, long-term care settings such as nursing homes, and the hospital. hp.json referral to geriatric medicine specialist|consultation with geriatric medicine specialist|evaluation by geriatric medicine specialist|assessment by geriatric medicine specialist|geriatric medicine specialist consultation http://purl.obolibrary.org/obo/MAXO_0000675 OBO:MAXO_0000676 biolink:NamedThing hospice and palliative medicine specialist evaluation An assessment by a physician who specializes in Hospice and Palliative Medicine who provides care to prevent and relieve the suffering experienced by patients with life-limiting illnesses. This specialist works with an interdisciplinary hospice or palliative care team to optimize quality of life while addressing the physical, psychological, social and spiritual needs of both patient and family. hp.json consultation with hospice and palliative medicine specialist|referral to hospice and palliative medicine specialist|evaluation by palliative care specialist|consultation with palliative care specialist|palliative care specialist referral|referral to palliative care specialist|palliative care specialist evaluation|hospice and palliative medicine specialist consultation|palliative care specialist consultation|assessment by palliative care specialist http://purl.obolibrary.org/obo/MAXO_0000676 OBO:MAXO_0000679 biolink:NamedThing sleep medicine specialist evaluation An assessment with a specialist who has expertise in the diagnosis and management of clinical conditions that occur during sleep, that disturb sleep, or that are affected by disturbances in the wake-sleep cycle. This specialist is skilled in the analysis and interpretation of comprehensive polysomnography, and well versed in emerging research and management of a sleep laboratory. hp.json referral to sleep specialist|referral to sleep medicine specialist|consultation with sleep medicine specialist|sleep medicine specialist consultation|evaluation by sleep medicine specialist|sleep specialist assessment|sleep study evaluation|assessment by sleep specialist|sleep specialist referral|assessment by sleep medicine specialist|sleep specialist evaluation|evaluation by sleep specialist|sleep specialist consultation|consultation with sleep specialist http://purl.obolibrary.org/obo/MAXO_0000679 HP:0033040 biolink:PhenotypicFeature Anti-Sm antibody positivity The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles. hp.json Anti-Smith autoantibody http://purl.obolibrary.org/obo/HP_0033040 HP:0008083 biolink:PhenotypicFeature 2nd-5th toe middle phalangeal hypoplasia UMLS:C1861376 hp.json Underdeveloped 2nd-5th middle toe bones http://purl.obolibrary.org/obo/HP_0008083 HP:0033042 biolink:PhenotypicFeature Abnormal chorion morphology Any structural anomaly of the fetal part of the placenta, which is known as the chorion. hp.json http://purl.obolibrary.org/obo/HP_0033042 HP:0033041 biolink:PhenotypicFeature Cytokine storm Excessive or uncontrolled release of proinflammatory cytokines. hp.json Hypercytokinemia http://purl.obolibrary.org/obo/HP_0033041 HP:0008080 biolink:PhenotypicFeature Hallux varus Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. MSH:D050488|UMLS:C0546297|SNOMEDCT_US:274147008 hp.json Medially deviated halluces http://purl.obolibrary.org/obo/HP_0008080 HP:0008082 biolink:PhenotypicFeature Medial deviation of the foot UMLS:C2673401 hp.json http://purl.obolibrary.org/obo/HP_0008082 HP:0008081 biolink:PhenotypicFeature Pes valgus An outward deviation of the foot at the talocalcaneal or subtalar joint. SNOMEDCT_US:249803006|SNOMEDCT_US:275344002|UMLS:C1578482 hp.json Valgus foot deformity http://purl.obolibrary.org/obo/HP_0008081 HP:0033048 biolink:PhenotypicFeature Substantia nigra hypointensity on susceptibility-weighted imaging Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI). hp.json Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI) http://purl.obolibrary.org/obo/HP_0033048 HP:0033047 biolink:PhenotypicFeature Body ache Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body. hp.json http://purl.obolibrary.org/obo/HP_0033047 HP:0033049 biolink:PhenotypicFeature Globus pallidus hypointensity on susceptibility-weighted imaging Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI). hp.json http://purl.obolibrary.org/obo/HP_0033049 HP:0033044 biolink:PhenotypicFeature Motor regression Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. hp.json Regression of motor skills http://purl.obolibrary.org/obo/HP_0033044 HP:0033043 biolink:PhenotypicFeature Edematous chorionic villi Swelling of the chorionic villi owing to fluid accumulation. hp.json http://purl.obolibrary.org/obo/HP_0033043 HP:0033046 biolink:PhenotypicFeature Michaelis-Gutmann bodies Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria. hp.json Malakoplakia http://purl.obolibrary.org/obo/HP_0033046 HP:0033045 biolink:PhenotypicFeature Bipedal edema A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid). hp.json Bipedal oedema http://purl.obolibrary.org/obo/HP_0033045 HP:0045026 biolink:PhenotypicFeature Abnormality of the mediastinum UMLS:C4022395 hp.json http://purl.obolibrary.org/obo/HP_0045026 HP:0045027 biolink:PhenotypicFeature Abnormality of the thoracic cavity UMLS:C4022394 hp.json http://purl.obolibrary.org/obo/HP_0045027 HP:0045028 biolink:PhenotypicFeature Microlissencephaly Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. UMLS:C4021030 hp.json Type 3 lissencephaly|Lissencephaly type III|Type III lissencephaly http://purl.obolibrary.org/obo/HP_0045028 HP:0045029 biolink:PhenotypicFeature Eosinophilic fasciitis Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues. MSH:C562487|UMLS:C0264005|SNOMEDCT_US:24129002 hp.json http://purl.obolibrary.org/obo/HP_0045029 HP:0008076 biolink:PhenotypicFeature Osteoporotic tarsals Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. UMLS:C1836872 hp.json http://purl.obolibrary.org/obo/HP_0008076 HP:0008079 biolink:PhenotypicFeature Absent fifth metatarsal A developmental abnormality characterized by the absence of the fifth metatarsal bone. UMLS:C1867932 hp.json Aplasia of the fifth metatarsal bone|Absent 5th long bone of foot|Absent 5th metatarsals http://purl.obolibrary.org/obo/HP_0008079 HP:0045025 biolink:PhenotypicFeature Narrow palpebral fissure Reduction in the vertical distance between the upper and lower eyelids. UMLS:C2675021|UMLS:C1837464 hp.json Small opening between the eyelids|Small palpebral fissures|Decreased size of palpebral fissure|Narrow palpebral fissures|Narrow eyelid opening http://purl.obolibrary.org/obo/HP_0045025 HP:0008078 biolink:PhenotypicFeature Thin metatarsal cortices UMLS:C1850162 hp.json http://purl.obolibrary.org/obo/HP_0008078 HP:0008095 biolink:PhenotypicFeature Osteolysis of talus Osteolysis affecting the talus. UMLS:C4021556 hp.json Osteolysis of tali http://purl.obolibrary.org/obo/HP_0008095 HP:0033051 biolink:PhenotypicFeature Impaired executive functioning A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia. hp.json http://purl.obolibrary.org/obo/HP_0033051 HP:0033050 biolink:PhenotypicFeature Pharyngalgia An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. hp.json Throat discomfort|Pharyngodynia|Sore throat|Throat pain http://purl.obolibrary.org/obo/HP_0033050 HP:0008094 biolink:PhenotypicFeature Widely spaced toes An overall widening of the spaces between the digits. UMLS:C1969238 hp.json Widely spaced toes http://purl.obolibrary.org/obo/HP_0008094 HP:0008097 biolink:PhenotypicFeature Partial fusion of tarsals UMLS:C1844520 hp.json http://purl.obolibrary.org/obo/HP_0008097 HP:0033053 biolink:PhenotypicFeature Pseudoseizure Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges. hp.json http://purl.obolibrary.org/obo/HP_0033053 HP:0008096 biolink:PhenotypicFeature Medially deviated second toe Medial deviation of the second toe. UMLS:C1862147 hp.json http://purl.obolibrary.org/obo/HP_0008096 HP:0033052 biolink:PhenotypicFeature Psychogenic non-epileptic seizure Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging. hp.json http://purl.obolibrary.org/obo/HP_0033052 HP:0008090 biolink:PhenotypicFeature Ankylosis of feet small joints UMLS:C4024732 hp.json http://purl.obolibrary.org/obo/HP_0008090 HP:0008093 biolink:PhenotypicFeature Short 4th toe Underdevelopment (hypoplasia) of the fourth toe. UMLS:C1862083 hp.json Short 4th toe|Short fourth toe http://purl.obolibrary.org/obo/HP_0008093 HP:0033059 biolink:PhenotypicFeature Decreased serum complement C6 A reduced level of the complement component C6 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033059 HP:0033058 biolink:PhenotypicFeature Decreased serum complement C7 A reduced level of the complement component C7 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033058 HP:0033055 biolink:PhenotypicFeature Impaired ability to plan Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity. hp.json Ineffective planning http://purl.obolibrary.org/obo/HP_0033055 HP:0033054 biolink:PhenotypicFeature Myoclonic tremor A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures. hp.json http://purl.obolibrary.org/obo/HP_0033054 HP:0033057 biolink:PhenotypicFeature Decreased serum terminal complement component Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9. hp.json http://purl.obolibrary.org/obo/HP_0033057 HP:0033056 biolink:PhenotypicFeature Impaired ability to organize Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine. hp.json Impaired ability to organise http://purl.obolibrary.org/obo/HP_0033056 OBO:MAXO_0000617 biolink:NamedThing pulse oximetry A non-invasive method that provides estimates of arterial oxyhemoglobin saturation by utilizing selected wavelengths of light to determine the saturation of oxyhemoglobin. NCIT:C38085 hp.json pulse ox measurement http://purl.obolibrary.org/obo/MAXO_0000617 OBO:MAXO_0000611 biolink:NamedThing rapid IgM-IgG combined antibody testing A type of lateral flow assay that qualitatively detect IgG and IgM antibodies of an infectious disease within human serum, plasma or whole blood in vitro. hp.json rapid IgM-IgG testing http://purl.obolibrary.org/obo/MAXO_0000611 HP:0045037 biolink:PhenotypicFeature Abnormality of jaw muscles UMLS:C4073166 hp.json Abnormality of jaw muscles http://purl.obolibrary.org/obo/HP_0045037 HP:0045038 biolink:PhenotypicFeature Gastric lymphoma Lymphoma that originates in the stomach itself. SNOMEDCT_US:276811008|UMLS:C0349532|MSH:C535648 hp.json Primary gastric lymphoma http://purl.obolibrary.org/obo/HP_0045038 OBO:MAXO_0000612 biolink:NamedThing clinical lateral flow assay testing A procedure using a paper-based platform for the detection and quantification of analytes in complex mixtures, where the sample is placed on a test device for clinical use. hp.json lateral flow immunoassay|LFA testing|lateral flow immuno assay http://purl.obolibrary.org/obo/MAXO_0000612 HP:0045039 biolink:PhenotypicFeature Osteolysis involving bones of the upper limbs UMLS:C4073167 hp.json http://purl.obolibrary.org/obo/HP_0045039 OBO:MAXO_0000610 biolink:NamedThing clinical ELISA testing A highly sensitive technique for detecting and measuring antigens or antibodies in a solution; the solution is run over a surface to which immobilized antibodies specific to the substance have been attached, and if the substance is present, it will bind to the antibody layer, and its presence is verified and visualized with an application of antibodies that have been tagged in some way. (BioTech Life Science Dictionary) OBI:0000661|NCIT:C16553 hp.json enzyme-linked immunosorbent assay|enzyme linked immunosorbent assay testing http://purl.obolibrary.org/obo/MAXO_0000610 OBO:MAXO_0000615 biolink:NamedThing clinical immunoblot assay testing A technique for analyzing or identifying proteins immobilized on a filter by complementary reaction with specific antibodies. NCIT:C17638|OBI:0001978 hp.json clinical Western blot assay http://purl.obolibrary.org/obo/MAXO_0000615 HP:0045034 biolink:PhenotypicFeature Elevated urinary aminoisobutyric acid An increased amount of 3-aminoisobutyric acid in the urine. UMLS:C4022393 hp.json http://purl.obolibrary.org/obo/HP_0045034 OBO:MAXO_0000616 biolink:NamedThing oxygen saturation measurement The measurement of the ratio of oxygenated hemoglobin to total hemoglobin in the blood. NCIT:C60832 hp.json http://purl.obolibrary.org/obo/MAXO_0000616 HP:0008087 biolink:PhenotypicFeature Nonossified fifth metatarsal The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. UMLS:C1844712 hp.json http://purl.obolibrary.org/obo/HP_0008087 HP:0045035 biolink:PhenotypicFeature Decreased urinary copper concentration UMLS:C4073164 hp.json Decreased urinary copper concentration http://purl.obolibrary.org/obo/HP_0045035 OBO:MAXO_0000613 biolink:NamedThing clinical immunoassay Any of several immunoassay methods that use an enzyme covalently linked to an antigen or antibody as a label and are typically used for diagnostics or disease progression. NCIT:C17455 hp.json http://purl.obolibrary.org/obo/MAXO_0000613 HP:0008089 biolink:PhenotypicFeature Abnormality of the fifth metatarsal bone An anomaly of the fifth metatarsal bone. UMLS:C4024733 hp.json Abnormality of the 5th long bone of foot http://purl.obolibrary.org/obo/HP_0008089 OBO:MAXO_0000614 biolink:NamedThing clinical immunofluorescence assay testing Immunofluorescence staining used in a pathology or clinical lab to diagnose diseases of the skin, kidney, heart, cilia and other organ systems. hp.json http://purl.obolibrary.org/obo/MAXO_0000614 HP:0045036 biolink:PhenotypicFeature Abnormal urinary copper concentration UMLS:C4073165 hp.json Abnormal urinary copper concentration http://purl.obolibrary.org/obo/HP_0045036 HP:0033062 biolink:PhenotypicFeature Abnormal factor IX activity Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. hp.json http://purl.obolibrary.org/obo/HP_0033062 HP:0008062 biolink:PhenotypicFeature Aplasia/Hypoplasia affecting the anterior segment of the eye Absence or underdevelopment of the anterior segment of the eye. UMLS:C4024739 hp.json http://purl.obolibrary.org/obo/HP_0008062 HP:0008061 biolink:PhenotypicFeature Aplasia/Hypoplasia of the retina UMLS:C4024740 hp.json Absent/underdeveloped retina|Absent/small retina http://purl.obolibrary.org/obo/HP_0008061 HP:0033061 biolink:PhenotypicFeature Increased factor IX activity Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. hp.json http://purl.obolibrary.org/obo/HP_0033061 HP:0008064 biolink:PhenotypicFeature Ichthyosis An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. MEDDRA:10021198|MSH:D007057|UMLS:C0020757 hp.json Ichthyosiform abnormality of the skin|Hypertrophic ichthyosis|Ichthyotic skin http://purl.obolibrary.org/obo/HP_0008064 hposlim_core HP:0033064 biolink:PhenotypicFeature Renal interstitial globotriaosylceramide inclusions Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). hp.json http://purl.obolibrary.org/obo/HP_0033064 HP:0008063 biolink:PhenotypicFeature Aplasia/Hypoplasia of the lens Absence or underdevelopment of the lens. UMLS:C4024738 hp.json Absent/underdeveloped lens|Absent/small lens http://purl.obolibrary.org/obo/HP_0008063 HP:0033063 biolink:PhenotypicFeature Shortened sleep cycle A tendency to sleep less hours than usual while feeling well rested. hp.json Short sleep http://purl.obolibrary.org/obo/HP_0033063 HP:0008060 biolink:PhenotypicFeature Aplasia/Hypoplasia of the fovea Congenital absence or underdevelopment of the fovea centralis. UMLS:C4024741 hp.json Absent/underdeveloped fovea http://purl.obolibrary.org/obo/HP_0008060 HP:0033060 biolink:PhenotypicFeature Decreased serum complement C5 A reduced level of the complement component C5 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033060 CHEBI:63473 biolink:ChemicalSubstance aromatic amino-acid anion An aromatic amino acid whose alpha-carboxylic acid group is ionized (non-protonated). hp.json aromatic amino-acid anions http://purl.obolibrary.org/obo/CHEBI_63473 3_STAR HP:0033069 biolink:PhenotypicFeature Renal interstitial IgG4+ plasma cell infiltration An increased number of IgG4+ plasma cells in the interstitial space of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033069 CHEBI:63471 biolink:ChemicalSubstance branched-chain amino-acid anion A branched-chain amino acid whose alpha-carboxylic acid group is ionized. hp.json branched-chain amino-acid anions http://purl.obolibrary.org/obo/CHEBI_63471 3_STAR CHEBI:63470 biolink:ChemicalSubstance sulfur-containing amino-acid anion A sulfur-containing amino acid whose alpha-carboxylic acid group is ionized (not protonated). hp.json sulfur-containing amino-acid anions http://purl.obolibrary.org/obo/CHEBI_63470 3_STAR CHEBI:63477 biolink:ChemicalSubstance iodothyroninate An iodothyronine whose alpha carboxylic acid group of the tyrosine is ionized (not protonated). hp.json iodothyroninates http://purl.obolibrary.org/obo/CHEBI_63477 3_STAR HP:0033066 biolink:PhenotypicFeature Severe albuminuria The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol). hp.json Heavy albuminuria http://purl.obolibrary.org/obo/HP_0033066 HP:0033065 biolink:PhenotypicFeature Mild albuminuria The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol). hp.json http://purl.obolibrary.org/obo/HP_0033065 HP:0033068 biolink:PhenotypicFeature Medication crystalluria A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. hp.json http://purl.obolibrary.org/obo/HP_0033068 HP:0033067 biolink:PhenotypicFeature Cystine crystalluria hp.json http://purl.obolibrary.org/obo/HP_0033067 HP:0045040 biolink:PhenotypicFeature Abnormal lactate dehydrogenase level A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. UMLS:C4073168 hp.json http://purl.obolibrary.org/obo/HP_0045040 HP:0045041 biolink:PhenotypicFeature Reduced lactate dehydrogenase B level A decreased or reduced level of the enzyme lactate dehydrogenase in serum. UMLS:C3279904|MSH:C563641 hp.json http://purl.obolibrary.org/obo/HP_0045041 HP:0045042 biolink:PhenotypicFeature Decreased serum complement C4 A reduced level of the complement component C4 in the circulation. UMLS:C4073169 hp.json Decreased serum complement C4 level http://purl.obolibrary.org/obo/HP_0045042 HP:0045043 biolink:PhenotypicFeature Decreased serum complement C4a A reduced level of the complement component C4a in circulation. UMLS:C4073170 hp.json Complement component 4A deficiency|C4a deficiency http://purl.obolibrary.org/obo/HP_0045043 HP:0045048 biolink:PhenotypicFeature Increased HbA2 hemoglobin An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. UMLS:C4073172 hp.json Increased hemoglobin A2|Increased HbA2 haemoglobin|Increased haemoglobin A2 http://purl.obolibrary.org/obo/HP_0045048 HP:0008059 biolink:PhenotypicFeature Aplasia/Hypoplasia of the macula UMLS:C4024742 hp.json Absent/underdeveloped macula http://purl.obolibrary.org/obo/HP_0008059 HP:0045049 biolink:PhenotypicFeature Abnormal DLCO An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs. UMLS:C4073173 hp.json Abnormal transfer factor of the lung for carbon monoxide|Abnormal diffusing capacity|Abnormal TLCO http://purl.obolibrary.org/obo/HP_0045049 HP:0008058 biolink:PhenotypicFeature Aplasia/Hypoplasia of the optic nerve UMLS:C4024743 hp.json Absent/small optic nerve|Absent/underdeveloped optic nerve http://purl.obolibrary.org/obo/HP_0008058 HP:0045044 biolink:PhenotypicFeature Decreased serum complement C4b A reduced level of the complement component C4b in circulation. UMLS:C3280641 hp.json C4b deficiency|Complement component 4B deficiency http://purl.obolibrary.org/obo/HP_0045044 HP:0008055 biolink:PhenotypicFeature Aplasia/Hypoplasia affecting the uvea Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. UMLS:C4024746 hp.json Absent/underdeveloped uvea http://purl.obolibrary.org/obo/HP_0008055 HP:0008054 biolink:PhenotypicFeature Abnormal morphology of the conjunctival vasculature Any abnormality of the blood vessels of the conjunctiva. UMLS:C4024747 hp.json Abnormality of the vasculature of the conjunctiva|Abnormal vasculature of the conjunctiva morphology|Abnormal morphology of the conjunctiva vasculature http://purl.obolibrary.org/obo/HP_0008054 HP:0045045 biolink:PhenotypicFeature Elevated circulating acylcarnitine concentration An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. UMLS:C4073171 hp.json Elevated plasma acylcarnitine levels http://purl.obolibrary.org/obo/HP_0045045 HP:0008057 biolink:PhenotypicFeature Aplasia/Hypoplasia affecting the fundus UMLS:C4024744 hp.json Absent/small fundus http://purl.obolibrary.org/obo/HP_0008057 HP:0045046 biolink:PhenotypicFeature Reduced insulin like growth factor binding protein acid labile subunit concentration An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation. UMLS:C3900122 hp.json Acid-labile subunit deficiency|Reduced insulin like growth factor binding protein acid labile subunit level|Decreased levels of acid labile subunit http://purl.obolibrary.org/obo/HP_0045046 HP:0008056 biolink:PhenotypicFeature Aplasia/Hypoplasia affecting the eye UMLS:C4024745 hp.json Absent/underdeveloped eye|Absent/small eye http://purl.obolibrary.org/obo/HP_0008056 HP:0045047 biolink:PhenotypicFeature HbS hemoglobin Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. MSH:D006451|UMLS:C0019043|SNOMEDCT_US:50095005 hp.json HbS haemoglobin http://purl.obolibrary.org/obo/HP_0045047 HP:0008073 biolink:PhenotypicFeature Low maternal circulating estriol concentration An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age. UMLS:C4024734 hp.json Low maternal serum estriol http://purl.obolibrary.org/obo/HP_0008073 HP:0033073 biolink:PhenotypicFeature Urate tophus Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi. hp.json Urate tophi http://purl.obolibrary.org/obo/HP_0033073 HP:0033072 biolink:PhenotypicFeature Abnormal macroscopic urine appearance Anomalous physical appearance (color, cloudiness, clarity) or odor of urine. hp.json http://purl.obolibrary.org/obo/HP_0033072 HP:0008072 biolink:PhenotypicFeature Maternal virilization in pregnancy Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. UMLS:C4024735 hp.json http://purl.obolibrary.org/obo/HP_0008072 HP:0008075 biolink:PhenotypicFeature Progressive pes cavus The development of Pes cavus that is progressive with age. UMLS:C1846017 hp.json http://purl.obolibrary.org/obo/HP_0008075 HP:0033075 biolink:PhenotypicFeature Inappropriately normal thyroid-stimulating hormone level A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. hp.json Inappropriately normal TSH http://purl.obolibrary.org/obo/HP_0033075 HP:0008074 biolink:PhenotypicFeature Metatarsal periosteal thickening UMLS:C1834349 hp.json http://purl.obolibrary.org/obo/HP_0008074 HP:0033074 biolink:PhenotypicFeature Steroid-responsive anemia Amelioration of anemia upon treatment with a steroid medication. hp.json Prednisone-responsive anemia|Steroid-responsive anaemia|Prednisone-responsive anaemia http://purl.obolibrary.org/obo/HP_0033074 HP:0008071 biolink:PhenotypicFeature Maternal hypertension Increased blood pressure during a pregnancy. UMLS:C0565599|SNOMEDCT_US:288250001 hp.json http://purl.obolibrary.org/obo/HP_0008071 HP:0033071 biolink:PhenotypicFeature Impaired task monitoring Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal. hp.json http://purl.obolibrary.org/obo/HP_0033071 HP:0008070 biolink:PhenotypicFeature Sparse hair Reduced density of hairs. UMLS:C1837770|MSH:D007039|MEDDRA:10021126|SNOMEDCT_US:56558005|UMLS:C0020678|UMLS:C1860844|SNOMEDCT_US:53602002 hp.json Decreased hair growth on body|Hypotrichosis|Sparse hair since birth|Decreased hair growth|Marked hypotrichosis|Sparse hair|Thin, sparse hair http://purl.obolibrary.org/obo/HP_0008070 hposlim_core HP:0033070 biolink:PhenotypicFeature Impaired self monitoring Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior. hp.json http://purl.obolibrary.org/obo/HP_0033070 HP:0033077 biolink:PhenotypicFeature Increased circulating free T4 concentration An elevated concentration of free thyroxine (fT4) in the blood circulation. hp.json Increased circulating free T4 level http://purl.obolibrary.org/obo/HP_0033077 HP:0033076 biolink:PhenotypicFeature Abnormal circulating free T4 concentration A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. hp.json Abnormal circulating free thyroxine level|Abnormal circulating free T4 level http://purl.obolibrary.org/obo/HP_0033076 HP:0033079 biolink:PhenotypicFeature Aplasia/Hypoplasia of the thyroid gland Absence or underdevelopment of the thyroid gland. hp.json http://purl.obolibrary.org/obo/HP_0033079 HP:0033078 biolink:PhenotypicFeature Decreased circulating free T4 concentration A reduced concentration of free thyroxine (fT4) in the blood circulation. hp.json Decreased circulating free T4 level http://purl.obolibrary.org/obo/HP_0033078 HP:0045051 biolink:PhenotypicFeature Decreased DLCO Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. UMLS:C4073175 hp.json Decreased diffusing capacity http://purl.obolibrary.org/obo/HP_0045051 HP:0045052 biolink:PhenotypicFeature Abnormality of the brachial nerve plexus Any abnormality of the brachial nerve plexus. UMLS:C4073176 hp.json http://purl.obolibrary.org/obo/HP_0045052 HP:0045053 biolink:PhenotypicFeature Abnormality of the lumbosacral nerve plexus Any abnormality of the lumbosacral nerve plexus. UMLS:C4073177 hp.json http://purl.obolibrary.org/obo/HP_0045053 HP:0045054 biolink:PhenotypicFeature Brachial plexus neuropathy SNOMEDCT_US:3548001|UMLS:C0700251|MSH:D020516 hp.json http://purl.obolibrary.org/obo/HP_0045054 OIO:logical-definition-view-relation biolink:NamedThing logical-definition-view-relation hp.json http://www.geneontology.org/formats/oboInOwl#logical-definition-view-relation HP:0045050 biolink:PhenotypicFeature Increased DLCO Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. UMLS:C4073174 hp.json Increased diffusing capacity http://purl.obolibrary.org/obo/HP_0045050 HP:0045059 biolink:PhenotypicFeature Hyperkeratotic papule A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). UMLS:C2047516 hp.json http://purl.obolibrary.org/obo/HP_0045059 HP:0008069 biolink:PhenotypicFeature Neoplasm of the skin A tumor (abnormal growth of tissue) of the skin. SNOMEDCT_US:372130007|SNOMEDCT_US:126488004|UMLS:C0007114|MSH:D012878|UMLS:C0037286|NCIT:C3262 hp.json Skin tumours|Skin cancer|Skin tumors|Neoplasia of the skin|Dermatological tumours|Dermatological tumors|Tumor of the skin|Skin cancer (non-melanoma)|Tumour of the skin http://purl.obolibrary.org/obo/HP_0008069 hposlim_core HP:0008066 biolink:PhenotypicFeature Abnormal blistering of the skin The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. UMLS:C2220104|UMLS:C2132198|UMLS:C0241054 hp.json Blisters|Blister|Skin bullae|Abnormal blistering of the skin|Blistering, generalised|Blistering, generalized|Skin blisters http://purl.obolibrary.org/obo/HP_0008066 HP:0045055 biolink:PhenotypicFeature Tiger tail banding An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding. UMLS:C4073178 hp.json Tiger tail banding|Tiger-tail banding http://purl.obolibrary.org/obo/HP_0045055 HP:0045056 biolink:PhenotypicFeature Abnormal levels of alpha-fetoprotein UMLS:C4073179 hp.json http://purl.obolibrary.org/obo/HP_0045056 HP:0008065 biolink:PhenotypicFeature Aplasia/Hypoplasia of the skin UMLS:C4024737 hp.json Absent/underdeveloped skin|Absent/small skin http://purl.obolibrary.org/obo/HP_0008065 HP:0045057 biolink:PhenotypicFeature Decreased levels of alpha-fetoprotein A decrease in the concentration of alpha-fetoprotein in the blood circulation. UMLS:C4073295 hp.json http://purl.obolibrary.org/obo/HP_0045057 HP:0045058 biolink:PhenotypicFeature Abnormality of the testis size An anomaly of the size of the testicle (the male gonad). UMLS:C4073180 hp.json http://purl.obolibrary.org/obo/HP_0045058 HP:0008067 biolink:PhenotypicFeature Abnormally lax or hyperextensible skin UMLS:C4024736 hp.json Abnormally loose or hyperelastic skin|Abnormally loose or stretchable skin http://purl.obolibrary.org/obo/HP_0008067 HP:0033004 biolink:PhenotypicFeature Palmar warts Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). hp.json http://purl.obolibrary.org/obo/HP_0033004 HP:0033003 biolink:PhenotypicFeature Tracheal papilloma A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea. hp.json http://purl.obolibrary.org/obo/HP_0033003 HP:0033006 biolink:PhenotypicFeature Diffuse alveolar damage Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation. hp.json http://purl.obolibrary.org/obo/HP_0033006 HP:0033005 biolink:PhenotypicFeature Plantar warts Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). hp.json http://purl.obolibrary.org/obo/HP_0033005 HP:0033000 biolink:PhenotypicFeature Subglottic laryngitis Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure. hp.json Pseudocroup|Croup|Laryngitis|Spasmodic croup|Viral croup http://purl.obolibrary.org/obo/HP_0033000 HP:0033002 biolink:PhenotypicFeature Bronchial papilloma A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus. hp.json http://purl.obolibrary.org/obo/HP_0033002 HP:0033001 biolink:PhenotypicFeature Laryngeal papilloma A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx. hp.json Laryngeal papillomatosis|Laryngeal papillomas http://purl.obolibrary.org/obo/HP_0033001 HP:0033008 biolink:PhenotypicFeature Increased Z-disc width Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005). hp.json Increased Z-disk width|Widened z-discs http://purl.obolibrary.org/obo/HP_0033008 HP:0033007 biolink:PhenotypicFeature Architectural distortion of the lung Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss. hp.json http://purl.obolibrary.org/obo/HP_0033007 HP:0033009 biolink:PhenotypicFeature Increased fecal coproporphyrin 1 Abnormally high concentration of coproporphyrin 3 in feces. hp.json Elevated stool coproporphyrin 1|Elevated faecal coproporphyrin 1|Elevated fecal coproporphyrin 1|High stool coproporphyrin 1|Increased faecal coproporphyrin 1|High fecal coproporphyrin 1|High faecal coproporphyrin 1 http://purl.obolibrary.org/obo/HP_0033009 HP:0033015 biolink:PhenotypicFeature Increased salivary cortisol level Abnormally elevated concentration of cortisol in saliva. hp.json http://purl.obolibrary.org/obo/HP_0033015 HP:0033014 biolink:PhenotypicFeature Decreased salivary cortisol level Abnormally reduced concentration of cortisol in saliva. hp.json http://purl.obolibrary.org/obo/HP_0033014 HP:0033017 biolink:PhenotypicFeature Transient decreased circulating IgD A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation. hp.json Transient decreaseed IgD in blood http://purl.obolibrary.org/obo/HP_0033017 HP:0033016 biolink:PhenotypicFeature Chronic decreased circulating IgD A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood. hp.json Chronic decreased IgM in blood http://purl.obolibrary.org/obo/HP_0033016 HP:0033011 biolink:PhenotypicFeature Platystencephaly Extreme width of the skull in the occipital region, with anterior narrowing and prognathism. hp.json http://purl.obolibrary.org/obo/HP_0033011 HP:0033010 biolink:PhenotypicFeature Increased fecal coproporphyrin 3 Abnormally high concentration of coproporphyrin 3 in feces hp.json High stool coproporphyrin 3|Increased faecal coproporphyrin 3|High fecal coproporphyrin 3|High faecal coproporphyrin 3|Elevated stool coproporphyrin 3|Elevated faecal coproporphyrin 3|Elevated fecal coproporphyrin 3 http://purl.obolibrary.org/obo/HP_0033010 HP:0033013 biolink:PhenotypicFeature Abnormal salivary cortisol level Any deviation from the normal concentration of cortisol in saliva. hp.json http://purl.obolibrary.org/obo/HP_0033013 HP:0033012 biolink:PhenotypicFeature Abnormal salivary metabolite concentration Any deviation from the normal concentration of a metabolite in saliva. hp.json http://purl.obolibrary.org/obo/HP_0033012 HP:0033019 biolink:PhenotypicFeature Male reproductive system neoplasm A neoplasm that affects the male reproductive system. NCIT:C3054 hp.json http://purl.obolibrary.org/obo/HP_0033019 HP:0033018 biolink:PhenotypicFeature Chronic absent circulating IgD A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured. hp.json Chronic (near) absent IgM in blood http://purl.obolibrary.org/obo/HP_0033018 HP:0033020 biolink:PhenotypicFeature Female reproductive system neoplasm A neoplasm that affects the female reproductive system. NCIT:C3053 hp.json http://purl.obolibrary.org/obo/HP_0033020 HP:0045008 biolink:PhenotypicFeature Abnormal shape of the radius UMLS:C4022402 hp.json http://purl.obolibrary.org/obo/HP_0045008 HP:0045009 biolink:PhenotypicFeature obsolete Abnormal morphology of the radius hp.json http://purl.obolibrary.org/obo/HP_0045009 HP:0033026 biolink:PhenotypicFeature White oral mucosal macule A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed. hp.json http://purl.obolibrary.org/obo/HP_0033026 HP:0033025 biolink:PhenotypicFeature Chronic absent circulating total IgG A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured. hp.json Chronic (near) absent total IgG in blood http://purl.obolibrary.org/obo/HP_0033025 HP:0033028 biolink:PhenotypicFeature Anti-U1 ribonucleoprotein antibody positivity The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. hp.json Anti-Scl-34 antibody positivity|Anti-RNP-antibodies|Anti-U1-RNP antibody positivity|Anti-U3 ribonucleoprotein antibody positivity http://purl.obolibrary.org/obo/HP_0033028 HP:0033027 biolink:PhenotypicFeature Retinal peau d'orange A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. hp.json http://purl.obolibrary.org/obo/HP_0033027 HP:0033022 biolink:PhenotypicFeature Chronic decreased circulating IgE A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. hp.json Chronic decreased IgE in blood http://purl.obolibrary.org/obo/HP_0033022 HP:0033021 biolink:PhenotypicFeature Transient decreased circulating IgE A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. hp.json Transient decreased IgE in blood http://purl.obolibrary.org/obo/HP_0033021 HP:0033024 biolink:PhenotypicFeature Transient decreased circulating IgA A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033024 HP:0033023 biolink:PhenotypicFeature Chronic absent circulating IgE A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured. hp.json Chronic (near) absent IgE in blood http://purl.obolibrary.org/obo/HP_0033023 OBO:MAXO_0000608 biolink:NamedThing serum phosphate assessment A quantitative measurement of the amount of phosphate present in a sample of serum. NCIT:C61028 hp.json serum phosphorus measurement|serum phosphate measurement http://purl.obolibrary.org/obo/MAXO_0000608 OBO:MAXO_0000609 biolink:NamedThing serology testing Testing blood serum for the presence of specifc antibody or antibodies to a specific antigen. Often used when an infection is suspected. hp.json serology assay http://purl.obolibrary.org/obo/MAXO_0000609 OBO:MAXO_0000606 biolink:NamedThing procalcitonin assessment The determination of the amount of procalcitonin (human) present in the sample. NCIT:C103430 hp.json procalcitonin level testing|procalcitonin testing|procalcitonin level measurement|procalcitonin (human) test|procalcitonin (human) assessment http://purl.obolibrary.org/obo/MAXO_0000606 OBO:MAXO_0000607 biolink:NamedThing D-dimer assessment The determination of the amount of D-dimer (human) present in the sample. NCIT:C82621 hp.json D-dimer measurement|D-dimer (human) assessment|D-dimer (human) test|fibrin degradation fragment testing|D dimer level testing|fragment D-dimer testing http://purl.obolibrary.org/obo/MAXO_0000607 HP:0033029 biolink:PhenotypicFeature obsolete Anti-Jo-1 antibody positivity hp.json http://purl.obolibrary.org/obo/HP_0033029 GO:1905900 biolink:BiologicalProcess negative regulation of smooth muscle tissue development Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle tissue development. hp.json down regulation of smooth muscle tissue development|inhibition of smooth muscle tissue development|down-regulation of smooth muscle tissue development|downregulation of smooth muscle tissue development http://purl.obolibrary.org/obo/GO_1905900 GO:1905901 biolink:BiologicalProcess positive regulation of smooth muscle tissue development Any process that activates or increases the frequency, rate or extent of smooth muscle tissue development. hp.json activation of smooth muscle tissue development|upregulation of smooth muscle tissue development|up regulation of smooth muscle tissue development|up-regulation of smooth muscle tissue development http://purl.obolibrary.org/obo/GO_1905901 GO:1905902 biolink:BiologicalProcess regulation of mesoderm formation Any process that modulates the frequency, rate or extent of mesoderm formation. hp.json http://purl.obolibrary.org/obo/GO_1905902 GO:1905903 biolink:BiologicalProcess negative regulation of mesoderm formation Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm formation. hp.json down regulation of mesoderm formation|inhibition of mesoderm formation|down-regulation of mesoderm formation|downregulation of mesoderm formation http://purl.obolibrary.org/obo/GO_1905903 HP:0045004 biolink:PhenotypicFeature Abnormal ossification of the trapezoid bone UMLS:C4022406 hp.json http://purl.obolibrary.org/obo/HP_0045004 HP:0045005 biolink:PhenotypicFeature Neural tube defect A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. MSH:D009436|UMLS:C0027794|SNOMEDCT_US:253098009 hp.json Abnormality of neural tube closure http://purl.obolibrary.org/obo/HP_0045005 GO:1905904 biolink:BiologicalProcess positive regulation of mesoderm formation Any process that activates or increases the frequency, rate or extent of mesoderm formation. hp.json upregulation of mesoderm formation|up regulation of mesoderm formation|activation of mesoderm formation|up-regulation of mesoderm formation http://purl.obolibrary.org/obo/GO_1905904 HP:0045006 biolink:PhenotypicFeature Aplasia of lymphatic vessels Aplasia (absence) of the lymphatic vessels. UMLS:C4022404 hp.json Absent lymphatic vessels http://purl.obolibrary.org/obo/HP_0045006 GO:1905905 biolink:BiologicalProcess pharyngeal gland morphogenesis The developmental process by which a pharyngeal gland is generated and organized. hp.json glandulae pharyngeae morphogenesis|pharynx gland morphogenesis http://purl.obolibrary.org/obo/GO_1905905 HP:0045007 biolink:PhenotypicFeature Abnormal substantia nigra morphology A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. UMLS:C4022403 hp.json Abnormality of the substantia nigra http://purl.obolibrary.org/obo/HP_0045007 OBO:MAXO_0000604 biolink:NamedThing endocrine testing A laboratory procedure that tests the function of an endocrine organ and measures the amount of a hormone present in a sample. NCIT:C74971 hp.json http://purl.obolibrary.org/obo/MAXO_0000604 HP:0045001 biolink:PhenotypicFeature Abnormal ossification of the trapezium UMLS:C4022409 hp.json http://purl.obolibrary.org/obo/HP_0045001 OBO:MAXO_0000605 biolink:NamedThing protein measurement The determination of the amount of protein present in the sample. NCIT:C64430 hp.json protein assessment|protein test http://purl.obolibrary.org/obo/MAXO_0000605 HP:0045002 biolink:PhenotypicFeature Absent ossification of the trapezium UMLS:C4022408 hp.json http://purl.obolibrary.org/obo/HP_0045002 HP:0045003 biolink:PhenotypicFeature Abnormal ossification of the scaphoid UMLS:C4022407 hp.json http://purl.obolibrary.org/obo/HP_0045003 HP:0033031 biolink:PhenotypicFeature Hyperpyrexia An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit). hp.json http://purl.obolibrary.org/obo/HP_0033031 HP:0033030 biolink:PhenotypicFeature Anti-glomerular basement membrane-antibody positivity The presence of autoantibodies in the serum that react to the glomerular basement membrane. hp.json Anti-GBM-antibody positivity http://purl.obolibrary.org/obo/HP_0033030 HP:0033037 biolink:PhenotypicFeature Migratory arthritis hp.json Migratory polyarthritis http://purl.obolibrary.org/obo/HP_0033037 HP:0033036 biolink:PhenotypicFeature Decreased nasal nitric oxide Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. hp.json Low nasal nitric oxide level http://purl.obolibrary.org/obo/HP_0033036 HP:0033039 biolink:PhenotypicFeature Increased circulating precipitin level The presence of high titers of antigen-precipitating IgG in the serum. hp.json Increased level of antigen-precipitating IgG antibodies http://purl.obolibrary.org/obo/HP_0033039 HP:0033038 biolink:PhenotypicFeature Anti-RNA-polymerase-III-autoantibody positivity The presence of autoantibodies in the serum that react to RNA-polymerase III. hp.json http://purl.obolibrary.org/obo/HP_0033038 HP:0033033 biolink:PhenotypicFeature Anti-MDA5 antibody positivity The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5). hp.json Increased level of anti-melanoma differentiation-associated protein 5 antibodies http://purl.obolibrary.org/obo/HP_0033033 HP:0033032 biolink:PhenotypicFeature Triggered by an abusive adult Applies to a sign or symptom that is induced by an abusive adult (usually a parent). hp.json Munchausen syndrome by proxy http://purl.obolibrary.org/obo/HP_0033032 HP:0033035 biolink:PhenotypicFeature Abnormal Schwann cell morphology Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function. hp.json Abnormal neurilemmocyte morphology|Abnormal neurilemmal cell morphology http://purl.obolibrary.org/obo/HP_0033035 OBO:uberon/core#transitively_anteriorly_connected_to biolink:NamedThing transitively anteriorly connected to . hp.json http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to HP:0033034 biolink:PhenotypicFeature Anti-citrullinated protein antibody positivity The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen. hp.json http://purl.obolibrary.org/obo/HP_0033034 HP:0045010 biolink:PhenotypicFeature Abnormality of peripheral nerves UMLS:C4022400 hp.json http://purl.obolibrary.org/obo/HP_0045010 HP:0045016 biolink:PhenotypicFeature obsolete Elevated serum long-chain fatty acids hp.json Increased serum long-chain fatty acids http://purl.obolibrary.org/obo/HP_0045016 HP:0045017 biolink:PhenotypicFeature Congenital malformation of the left heart Defect or defects of the morphogenesis of the left heart identifiable at birth. UMLS:C4022397 hp.json http://purl.obolibrary.org/obo/HP_0045017 HP:0045018 biolink:PhenotypicFeature Partial duplication of eyebrows UMLS:C4022396 hp.json Partial duplication of eyebrows|Partial double eyebrow http://purl.obolibrary.org/obo/HP_0045018 HP:0045011 biolink:PhenotypicFeature Decreased urine bicarbonate concentration Abnormally decreased concentration of hydrogencarbonate in the urine. UMLS:C4022399 hp.json Decreased urine HCO3 concentration http://purl.obolibrary.org/obo/HP_0045011 HP:0045012 biolink:PhenotypicFeature Decreased urinary catecholamine concentration UMLS:C4022398 hp.json http://purl.obolibrary.org/obo/HP_0045012 HP:0045013 biolink:PhenotypicFeature obsolete Decreased urinary glucose concentration hp.json http://purl.obolibrary.org/obo/HP_0045013 HP:0045014 biolink:PhenotypicFeature Hypolipidemia UMLS:C0342892|SNOMEDCT_US:238090007 hp.json http://purl.obolibrary.org/obo/HP_0045014 HP:0011890 biolink:PhenotypicFeature Prolonged bleeding following procedure Prolonged or protracted bleeding following an invasive procedure or intervention. UMLS:C4023142 hp.json Prolonged bleeding following procedure http://purl.obolibrary.org/obo/HP_0011890 HP:0011891 biolink:PhenotypicFeature Post-partum hemorrhage Significant maternal haemorrhage/blood loss following deilvery of a child. MSH:D006473|SNOMEDCT_US:47821001|UMLS:C0032797 hp.json Bleeding post-delivery|Post-partum haemorrhage http://purl.obolibrary.org/obo/HP_0011891 HP:0011892 biolink:PhenotypicFeature Low levels of vitamin K A reduced concentration of vitamin K. SNOMEDCT_US:52675005|MSH:D014813|UMLS:C0042880 hp.json http://purl.obolibrary.org/obo/HP_0011892 HP:0008240 biolink:PhenotypicFeature Secondary growth hormone deficiency UMLS:C4024716 hp.json http://purl.obolibrary.org/obo/HP_0008240 HP:0011893 biolink:PhenotypicFeature Abnormal leukocyte count Number of leukocytes per volume of blood beyond normal limits. UMLS:C0580531|SNOMEDCT_US:165509000 hp.json Abnormal white blood cell count http://purl.obolibrary.org/obo/HP_0011893 HP:0011894 biolink:PhenotypicFeature Impaired thromboxane A2 agonist-induced platelet aggregation Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. UMLS:C4023141 hp.json http://purl.obolibrary.org/obo/HP_0011894 HP:0011895 biolink:PhenotypicFeature Anemia due to reduced life span of red cells A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. UMLS:C4021112 hp.json Anaemia due to reduced life span of red cells http://purl.obolibrary.org/obo/HP_0011895 HP:0011896 biolink:PhenotypicFeature Subconjunctival hemorrhage Bleeding beneath the mucous membrane that lines the inner surface of the eyelid. UMLS:C0038534|SNOMEDCT_US:78768009 hp.json Subconjunctival haemorrhage http://purl.obolibrary.org/obo/HP_0011896 HP:0011897 biolink:PhenotypicFeature Neutrophilia Increased number of neutrophils circulating in blood. UMLS:C4023140 hp.json Increased blood neutrophil counts http://purl.obolibrary.org/obo/HP_0011897 HP:0033202 biolink:PhenotypicFeature Brachioradialis hyporeflexia Reduced intensity of the brachioradialis tendon reflex. hp.json http://purl.obolibrary.org/obo/HP_0033202 HP:0033201 biolink:PhenotypicFeature Biceps hyporeflexia Reduced intensity of the biceps tendon reflex. hp.json Hyporeflexia of biceps http://purl.obolibrary.org/obo/HP_0033201 HP:0033204 biolink:PhenotypicFeature Triceps hyperreflexia Increased intensity of the triceps reflex. hp.json http://purl.obolibrary.org/obo/HP_0033204 HP:0033203 biolink:PhenotypicFeature Brachioradialis hyperreflexia Increased intensity of the brachioradialis reflex. hp.json http://purl.obolibrary.org/obo/HP_0033203 CHEBI:26421 biolink:ChemicalSubstance pyridines Any organonitrogen heterocyclic compound based on a pyridine skeleton and its substituted derivatives. hp.json http://purl.obolibrary.org/obo/CHEBI_26421 3_STAR HP:0033200 biolink:PhenotypicFeature Triceps hyporeflexia Reduced intensity of the triceps tendon reflex. hp.json Hyporeflexia of triceps http://purl.obolibrary.org/obo/HP_0033200 HP:0033209 biolink:PhenotypicFeature Acinar dysplasia Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli. hp.json http://purl.obolibrary.org/obo/HP_0033209 HP:0033206 biolink:PhenotypicFeature Hyperactive Achilles reflex Increased intensity of the Achilles reflex. hp.json Hyperactive ankle reflex|Hyperactive ankle jerk reflex http://purl.obolibrary.org/obo/HP_0033206 HP:0008239 biolink:PhenotypicFeature Adrenal medullary hypoplasia Developmental hypoplasia of the adrenal medulla. UMLS:C4024717 hp.json Small adrenal medulla http://purl.obolibrary.org/obo/HP_0008239 HP:0033205 biolink:PhenotypicFeature Biceps hyperreflexia Increased intensity of the biceps reflex. hp.json http://purl.obolibrary.org/obo/HP_0033205 HP:0033208 biolink:PhenotypicFeature Alveolar capillary dysplasia A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis. hp.json http://purl.obolibrary.org/obo/HP_0033208 HP:0033207 biolink:PhenotypicFeature Increased proportion autoreactive unresponsive CD21-/low B cells Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures. hp.json http://purl.obolibrary.org/obo/HP_0033207 HP:0011898 biolink:PhenotypicFeature Abnormality of circulating fibrinogen An abnormality of the level of activity of circulating fibrinogen. UMLS:C4023139 hp.json http://purl.obolibrary.org/obo/HP_0011898 HP:0011899 biolink:PhenotypicFeature Hyperfibrinogenemia Increased concentration of fibrinogen in the blood. SNOMEDCT_US:439000005|UMLS:C0919890 hp.json http://purl.obolibrary.org/obo/HP_0011899 HP:0008237 biolink:PhenotypicFeature Hypothalamic hypothyroidism A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. UMLS:C0220998|SNOMEDCT_US:37429009 hp.json Tertiary hypothyroidism http://purl.obolibrary.org/obo/HP_0008237 HP:0008236 biolink:PhenotypicFeature Isosexual precocious puberty UMLS:C0271528|SNOMEDCT_US:4294006 hp.json http://purl.obolibrary.org/obo/HP_0008236 HP:0008231 biolink:PhenotypicFeature Macronodular adrenal hyperplasia SNOMEDCT_US:237778003|UMLS:C0342495 hp.json http://purl.obolibrary.org/obo/HP_0008231 HP:0008230 biolink:PhenotypicFeature obsolete Decreased testosterone in males hp.json http://purl.obolibrary.org/obo/HP_0008230 HP:0008233 biolink:PhenotypicFeature Decreased circulating progesterone An reduced concentration of progesterone in the blood. UMLS:C1858995 hp.json Decreased serum progesterone http://purl.obolibrary.org/obo/HP_0008233 HP:0008232 biolink:PhenotypicFeature Elevated circulating follicle stimulating hormone level An elevated concentration of follicle-stimulating hormone in the blood. UMLS:C4021550 hp.json Elevated follicle-stimulating hormone|Elevated plasma follicle stimulating hormone|Elevated follicle stimulating hormone|Increased circulating follicle stimulating hormone level|Elevated FSH level http://purl.obolibrary.org/obo/HP_0008232 HP:0011880 biolink:PhenotypicFeature Acute disseminated intravascular coagulation An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed. UMLS:C4023149 hp.json http://purl.obolibrary.org/obo/HP_0011880 HP:0008251 biolink:PhenotypicFeature Congenital goiter An enlargement of the thyroid gland with congenital onset. SNOMEDCT_US:276565004|UMLS:C0349476 hp.json Congenital goitre http://purl.obolibrary.org/obo/HP_0008251 HP:0011881 biolink:PhenotypicFeature Decreased platelet glycoprotein VI Decreased cell membrane concentration of glycoprotein VI. UMLS:C4023148 hp.json http://purl.obolibrary.org/obo/HP_0011881 HP:0008250 biolink:PhenotypicFeature Infantile hypercalcemia SNOMEDCT_US:276645004|MSH:C562999|UMLS:C0475732 hp.json http://purl.obolibrary.org/obo/HP_0008250 HP:0011882 biolink:PhenotypicFeature Decreased platelet P2Y12 receptor Decreased cell membrane concentration of P2Y12 receptor. UMLS:C4023147 hp.json http://purl.obolibrary.org/obo/HP_0011882 HP:0011883 biolink:PhenotypicFeature Abnormal platelet granules An anomaly of alpha or dense granules or platelet lysosomes. UMLS:C4023146 hp.json http://purl.obolibrary.org/obo/HP_0011883 HP:0011884 biolink:PhenotypicFeature Abnormal umbilical stump bleeding Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. UMLS:C4023145 hp.json http://purl.obolibrary.org/obo/HP_0011884 HP:0011885 biolink:PhenotypicFeature Hemorrhage of the eye Bleeding from vessels of the various tissues of the eye. UMLS:C0015402|MSH:D005130|SNOMEDCT_US:417244000|SNOMEDCT_US:93478000 hp.json Haemorrhage of the eye|Bleeding from the eye http://purl.obolibrary.org/obo/HP_0011885 HP:0011886 biolink:PhenotypicFeature Hyphema Bleeding in the anterior chamber of the eye. UMLS:C0020581|MSH:D006988|SNOMEDCT_US:75229002 hp.json http://purl.obolibrary.org/obo/HP_0011886 HP:0033213 biolink:PhenotypicFeature Elevated urine suberic acid level An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. hp.json Elevated urine octanedioic acid level http://purl.obolibrary.org/obo/HP_0033213 HP:0033212 biolink:PhenotypicFeature Abnormal total iron binding capacity Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. hp.json http://purl.obolibrary.org/obo/HP_0033212 GO:0097084 biolink:BiologicalProcess vascular associated smooth muscle cell development The process aimed at the progression of a vascular smooth muscle cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. A vascular smooth muscle cell is a non-striated, elongated, spindle-shaped cell found lining the blood vessels. hp.json vascular smooth muscle cell development http://purl.obolibrary.org/obo/GO_0097084 HP:0033215 biolink:PhenotypicFeature Obliterative abnormality of the renal glomerulus hp.json http://purl.obolibrary.org/obo/HP_0033215 CHEBI:26432 biolink:ChemicalSubstance pyrimidine nucleobase A nucleobase whose skeleton is derived from pyrimidine. hp.json pyrimidine nucleobase|a pyrimidine nucleobase|pyrimidine nucleobases|pyrimidine bases http://purl.obolibrary.org/obo/CHEBI_26432 3_STAR HP:0033214 biolink:PhenotypicFeature Recurrent viral pneumonia Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias. hp.json http://purl.obolibrary.org/obo/HP_0033214 HP:0033211 biolink:PhenotypicFeature Decreased total iron binding capacity A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. hp.json http://purl.obolibrary.org/obo/HP_0033211 HP:0033210 biolink:PhenotypicFeature Congenital alveolar dysplasia Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries. hp.json http://purl.obolibrary.org/obo/HP_0033210 HP:0033217 biolink:PhenotypicFeature Perihilar glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. hp.json http://purl.obolibrary.org/obo/HP_0033217 HP:0008249 biolink:PhenotypicFeature Thyroid hyperplasia Hyperplasia of the thyroid gland. UMLS:C1112776 hp.json Large thyroid http://purl.obolibrary.org/obo/HP_0008249 HP:0033216 biolink:PhenotypicFeature Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. hp.json http://purl.obolibrary.org/obo/HP_0033216 HP:0033219 biolink:PhenotypicFeature Glomerular hyalinosis away from the vascular and tubular poles Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. hp.json http://purl.obolibrary.org/obo/HP_0033219 HP:0033218 biolink:PhenotypicFeature Glomerular hyalinosis at the tubular pole Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. hp.json http://purl.obolibrary.org/obo/HP_0033218 HP:0011887 biolink:PhenotypicFeature Choroid hemorrhage Hemorrhage from the vessels of the choroid. SNOMEDCT_US:122003|UMLS:C0008522|MSH:D002832 hp.json Choroidal hemorrhage|Choroid haemorrhage|Choroidal haemorrhage http://purl.obolibrary.org/obo/HP_0011887 HP:0011888 biolink:PhenotypicFeature Bleeding requiring red cell transfusion Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4). UMLS:C4023144 hp.json Bleeding requiring red cell transfusion http://purl.obolibrary.org/obo/HP_0011888 HP:0008245 biolink:PhenotypicFeature Pituitary hypothyroidism A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. UMLS:C3665349|SNOMEDCT_US:82598004 hp.json TSH deficient hypothyroidism|Low thyroid gland function due to abnormal pituitary gland|Thyroid stimulating hormone deficiency|Thyrotropin deficiency|Secondary hypothyroidism http://purl.obolibrary.org/obo/HP_0008245 HP:0011889 biolink:PhenotypicFeature Bleeding with minor or no trauma Significant bleeding or hemorrhage without significant precipitating factor. UMLS:C4023143 hp.json Easy bleeding|Bleeding with minor or no trauma http://purl.obolibrary.org/obo/HP_0011889 HP:0008247 biolink:PhenotypicFeature Euthyroid hyperthyroxinemia An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease. UMLS:C4021549 hp.json Asymptomatic hyperthyroxinemia http://purl.obolibrary.org/obo/HP_0008247 HP:0008242 biolink:PhenotypicFeature Pseudohypoaldosteronism A state of renal tubular unresponsiveness or resistance to the action of aldosterone. UMLS:C0033805|MSH:D011546|SNOMEDCT_US:77098009 hp.json http://purl.obolibrary.org/obo/HP_0008242 HP:0008244 biolink:PhenotypicFeature Congenital adrenal hypoplasia A type of adrenal hypoplasia with congenital onset. UMLS:C0220766|SNOMEDCT_US:93235007 hp.json Congenital adrenal gland hypoplasia http://purl.obolibrary.org/obo/HP_0008244 HP:0011870 biolink:PhenotypicFeature Impaired arachidonic acid-induced platelet aggregation Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. UMLS:C4023155 hp.json http://purl.obolibrary.org/obo/HP_0011870 HP:0011871 biolink:PhenotypicFeature Impaired ristocetin-induced platelet aggregation Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. UMLS:C4023154 hp.json http://purl.obolibrary.org/obo/HP_0011871 HP:0011872 biolink:PhenotypicFeature Impaired thrombin-induced platelet aggregation Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). UMLS:C4023153 hp.json http://purl.obolibrary.org/obo/HP_0011872 CHEBI:26401 biolink:ChemicalSubstance purines A class of imidazopyrimidines that consists of purine and its substituted derivatives. hp.json http://purl.obolibrary.org/obo/CHEBI_26401 3_STAR HP:0011873 biolink:PhenotypicFeature Abnormal platelet count Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. UMLS:C0580317|SNOMEDCT_US:165558001 hp.json http://purl.obolibrary.org/obo/HP_0011873 HP:0011874 biolink:PhenotypicFeature Heparin-induced thrombocytopenia Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin. UMLS:C0272285|SNOMEDCT_US:73397007 hp.json http://purl.obolibrary.org/obo/HP_0011874 HP:0011875 biolink:PhenotypicFeature Abnormal platelet morphology An anomaly in platelet form, ultrastructure, or intracellular organelles. UMLS:C0855742 hp.json Abnormal shape of platelets http://purl.obolibrary.org/obo/HP_0011875 HP:0033224 biolink:PhenotypicFeature Glomerular parietal epithelial cell hyperplasia Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. hp.json Hyperplasia of the glomerular parietal epithelial cell http://purl.obolibrary.org/obo/HP_0033224 HP:0033223 biolink:PhenotypicFeature Abnormal glomerular parietal epithelial cell morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. hp.json http://purl.obolibrary.org/obo/HP_0033223 UBERON:0011693 biolink:AnatomicalEntity extraembryonic portion of umbilical artery VHOG:0001157 hp.json extraembryonic umbilical artery http://purl.obolibrary.org/obo/UBERON_0011693 HP:0033226 biolink:PhenotypicFeature Bowman capsular hyaline drops An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. hp.json Capsular hyaline drops within Bowman's capsule http://purl.obolibrary.org/obo/HP_0033226 HP:0033225 biolink:PhenotypicFeature Glomerular parietal epithelial cell hypertrophy An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present hp.json Hypertrophy of the glomerular parietal epithelial cell http://purl.obolibrary.org/obo/HP_0033225 HP:0033220 biolink:PhenotypicFeature 2-ethylhydracylic aciduria An increased concentration of 2-ethylhydracylic acid in the urine. hp.json Elevated urinary 2-ethylhydracylic acid|Elevated urinary 2-methylbutyrylglycine http://purl.obolibrary.org/obo/HP_0033220 UBERON:0011697 biolink:AnatomicalEntity right extraembryonic umbilical artery EHDAA2:0001721 hp.json extraembryonic umbilical artery right http://purl.obolibrary.org/obo/UBERON_0011697 UBERON:0011696 biolink:AnatomicalEntity left extraembryonic umbilical artery EHDAA2:0000937 hp.json extraembryonic umbilical artery left http://purl.obolibrary.org/obo/UBERON_0011696 HP:0033222 biolink:PhenotypicFeature Decreased CD4:CD8 ratio An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells. hp.json Inverted CD4:CD8 ratio|Inverted CD4/CD8 ratio http://purl.obolibrary.org/obo/HP_0033222 UBERON:0011695 biolink:AnatomicalEntity embryonic cardiovascular system A cardiovascular system that is part of a conceptus. FMA:305965|EHDAA2:0000216|NCIT:C34148 hp.json conceptus cardiovascular system|embryonic circulatory system|fetal circulatory system http://purl.obolibrary.org/obo/UBERON_0011695 HP:0033221 biolink:PhenotypicFeature Increased CD4:CD8 ratio An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells. hp.json http://purl.obolibrary.org/obo/HP_0033221 HP:0033228 biolink:PhenotypicFeature Triceps areflexia Inability to elicit triceps tendon reflex. hp.json Areflexia of triceps http://purl.obolibrary.org/obo/HP_0033228 HP:0008216 biolink:PhenotypicFeature Adrenal gland dysgenesis Abnormal development of the adrenal gland. UMLS:C1856017 hp.json Dysplastic adrenal glands|Adrenal gland dysplasia http://purl.obolibrary.org/obo/HP_0008216 HP:0033227 biolink:PhenotypicFeature Glomerular synechial adhesion An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. hp.json http://purl.obolibrary.org/obo/HP_0033227 HP:0033229 biolink:PhenotypicFeature Brachioradialis areflexia Inability to elicit brachioradialis tendon reflex. hp.json Areflexia of brachioradialis http://purl.obolibrary.org/obo/HP_0033229 HP:0011876 biolink:PhenotypicFeature Abnormal platelet volume Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. UMLS:C4023152 hp.json http://purl.obolibrary.org/obo/HP_0011876 HP:0008213 biolink:PhenotypicFeature Gonadotropin deficiency A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). UMLS:C0271623|SNOMEDCT_US:33927004|MSH:D007006 hp.json Pituitary gonadotropin deficiency http://purl.obolibrary.org/obo/HP_0008213 HP:0011877 biolink:PhenotypicFeature Increased mean platelet volume Average platelet volume above the upper limit of the normal reference interval. UMLS:C1096367 hp.json Large platelets http://purl.obolibrary.org/obo/HP_0011877 HP:0011878 biolink:PhenotypicFeature Abnormal platelet membrane protein expression Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. UMLS:C4023151 hp.json http://purl.obolibrary.org/obo/HP_0011878 HP:0008214 biolink:PhenotypicFeature Decreased serum estradiol A reduction below normal concentration of estradiol in the circulation. SNOMEDCT_US:166449002|UMLS:C0241011 hp.json Decreased serum estradiol http://purl.obolibrary.org/obo/HP_0008214 HP:0011879 biolink:PhenotypicFeature Decreased platelet glycoprotein Ib-IX-V Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V. UMLS:C4023150 hp.json http://purl.obolibrary.org/obo/HP_0011879 HP:0008211 biolink:PhenotypicFeature Parathyroid agenesis Aplasia of the parathyroid gland. MSH:C563238|SNOMEDCT_US:73291005|UMLS:C1321907 hp.json Parathyroid aplasia|Parathyroid absence http://purl.obolibrary.org/obo/HP_0008211 HP:0011860 biolink:PhenotypicFeature Metaphyseal dappling The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. UMLS:C4020907 hp.json Dappled metaphyseal sclerosis http://purl.obolibrary.org/obo/HP_0011860 HP:0011861 biolink:PhenotypicFeature Bilateral trilobed lung Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. SNOMEDCT_US:448648001|UMLS:C3164377 hp.json Bilateral trilobed lungs http://purl.obolibrary.org/obo/HP_0011861 HP:0011862 biolink:PhenotypicFeature Abnormal bone collagen fibril morphology Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. UMLS:C4023158 hp.json http://purl.obolibrary.org/obo/HP_0011862 HP:0011863 biolink:PhenotypicFeature Abnormal sternal ossification Any anomaly in the formation of the bony substance of the sternum. UMLS:C1860243 hp.json Sternal ossification centre abnormalities|Sternal ossification center abnormalities|Abnormal maturation of breastbone http://purl.obolibrary.org/obo/HP_0011863 HP:0011864 biolink:PhenotypicFeature Elevated plasma pyrophosphate An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. UMLS:C4023157 hp.json http://purl.obolibrary.org/obo/HP_0011864 GO:0097060 biolink:CellularComponent synaptic membrane A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. hp.json http://purl.obolibrary.org/obo/GO_0097060 goslim_synapse HP:0033235 biolink:PhenotypicFeature Difficulty descending stairs Reduced ability to desscend stairs. hp.json Difficulty walking down stairs http://purl.obolibrary.org/obo/HP_0033235 HP:0033234 biolink:PhenotypicFeature Mesangial hyaline deposition Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. hp.json http://purl.obolibrary.org/obo/HP_0033234 HP:0033237 biolink:PhenotypicFeature Visceral epithelial cell detachment Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. hp.json Detachment of visceral epithelial cells|Podocyte detachment http://purl.obolibrary.org/obo/HP_0033237 HP:0033236 biolink:PhenotypicFeature Cognitive fatigue A failure to sustain attention that requires self-motivation to optimize performance. hp.json Central fatigue http://purl.obolibrary.org/obo/HP_0033236 HP:0033231 biolink:PhenotypicFeature Abnormal glomerular mesangial cellularity Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033231 HP:0033230 biolink:PhenotypicFeature Biceps areflexia Inability to elicit biceps tendon reflex. hp.json Areflexia of biceps http://purl.obolibrary.org/obo/HP_0033230 HP:0033233 biolink:PhenotypicFeature Paramesangial deposits Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. hp.json http://purl.obolibrary.org/obo/HP_0033233 HP:0033232 biolink:PhenotypicFeature Abnormal glomerular mesangial matrix morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. hp.json http://purl.obolibrary.org/obo/HP_0033232 UBERON:0011679 biolink:AnatomicalEntity proximal tarsal bone A tarsal bone that connected_to a hindlimb zeugopod skeleton. hp.json http://purl.obolibrary.org/obo/UBERON_0011679 UBERON:0011678 biolink:AnatomicalEntity hindlimb intermedium bone A proximal tarsal bone that articulates with the fibula. AAO:0000923 hp.json hidlimb intermedium|pedal intermedium|intermedium (hind)|intermedium|intermedium of pes http://purl.obolibrary.org/obo/UBERON_0011678 UBERON:0011677 biolink:AnatomicalEntity trunk vertebra A vertebra in the trunk region. For tetrapods, includes lumbar and thoracic vertebrae. Excludes caudal/coccygeal vertebra, which are located posteriorly. In tetrapods this includes thoracic, lumbar and sacral vertebrae, and excludes the cervical vertebrae, which are located anteriorly. hp.json presacral vertebra|thoracolumbar vertebra http://purl.obolibrary.org/obo/UBERON_0011677 pheno_slim HP:0033239 biolink:PhenotypicFeature Visceral epithelial cell capping Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. hp.json Podocyte cap http://purl.obolibrary.org/obo/HP_0033239 HP:0008227 biolink:PhenotypicFeature Pituitary resistance to thyroid hormone A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal. SNOMEDCT_US:360348000|SNOMEDCT_US:360353005|UMLS:C0342198 hp.json http://purl.obolibrary.org/obo/HP_0008227 HP:0033238 biolink:PhenotypicFeature Podocyte microvillous transformation Cytoplasmic projections into the urinary space from the luminal side of the podocyte. hp.json http://purl.obolibrary.org/obo/HP_0033238 HP:0008229 biolink:PhenotypicFeature Thyroid lymphangiectasia The presence of lymphangiectasis of the thyroid gland. UMLS:C1856129 hp.json Thyroid lymphangiectasis http://purl.obolibrary.org/obo/HP_0008229 HP:0008223 biolink:PhenotypicFeature Compensated hypothyroidism Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4). SNOMEDCT_US:237523006|UMLS:C0342162 hp.json Mild hypothyroidism|Subclinical hypothyroidism http://purl.obolibrary.org/obo/HP_0008223 HP:0011867 biolink:PhenotypicFeature Abnormal iliac wing morphology An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. UMLS:C4023156 hp.json Abnormality of the wing of the ilium http://purl.obolibrary.org/obo/HP_0011867 HP:0008226 biolink:PhenotypicFeature Androgen insufficiency Insufficient amount of androgenic activity. UMLS:C0342527|SNOMEDCT_US:38825009 hp.json Hypoandrogenism http://purl.obolibrary.org/obo/HP_0008226 HP:0011868 biolink:PhenotypicFeature Sciatica Pain in the lower back and hip radiating in the distribution of the sciatic nerve. MSH:D012585|SNOMEDCT_US:23056005|UMLS:C0036396 hp.json http://purl.obolibrary.org/obo/HP_0011868 HP:0008225 biolink:PhenotypicFeature Thyroid follicular hyperplasia UMLS:C1969546 hp.json http://purl.obolibrary.org/obo/HP_0008225 OBI:0100026 biolink:NamedThing organism hp.json http://purl.obolibrary.org/obo/OBI_0100026 HP:0011869 biolink:PhenotypicFeature Abnormal platelet function Any anomaly in the function of thrombocytes. UMLS:C0855740 hp.json http://purl.obolibrary.org/obo/HP_0011869 HP:0008222 biolink:PhenotypicFeature Female infertility SNOMEDCT_US:6738008|MSH:D007247|UMLS:C0021361 hp.json Female infertility http://purl.obolibrary.org/obo/HP_0008222 HP:0008221 biolink:PhenotypicFeature Adrenal hyperplasia Enlargement of the adrenal gland. UMLS:C1621895|SNOMEDCT_US:419920004 hp.json Enlarged adrenal glands http://purl.obolibrary.org/obo/HP_0008221 HP:0008282 biolink:PhenotypicFeature Unconjugated hyperbilirubinemia An increased amount of unconjugated (indirect) bilurubin in the blood. SNOMEDCT_US:7752002|UMLS:C0268306 hp.json http://purl.obolibrary.org/obo/HP_0008282 HP:0008281 biolink:PhenotypicFeature Acute hyperammonemia An increased concentration of ammonia in the blood with sudden onset. UMLS:C1859506 hp.json Hyperammonemia, acute http://purl.obolibrary.org/obo/HP_0008281 HP:0008283 biolink:PhenotypicFeature Fasting hyperinsulinemia An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. UMLS:C1864954 hp.json High blood insulin levels while fasting http://purl.obolibrary.org/obo/HP_0008283 UBERON:0035642 biolink:AnatomicalEntity laryngeal nerve Any nerve that innervates the larynx. SCTID:307013006|MESH:D007823 hp.json http://purl.obolibrary.org/obo/UBERON_0035642 UBERON:0035639 biolink:AnatomicalEntity ocular adnexa The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. FMA:76554|SCTID:120612006|UMLS:C0229243|Wikipedia:Accessory_visual_structures|NCIT:C32574 hp.json accessory visual structures|appendages of the eye|accessory parts of orbital region|appendages of the eye|accessory visual structures|structurae oculi accessoriae|adnexa oculi|appendage of eye|accessory visual structures|set of accessory visual structures|adnexa oculi|eye adnexa|structurae oculi accessoriae|appendage of eye|adnexal parts of orbital region|accessory visual structures set http://purl.obolibrary.org/obo/UBERON_0035639 HP:0008279 biolink:PhenotypicFeature Transient hyperlipidemia UMLS:C1850722 hp.json http://purl.obolibrary.org/obo/HP_0008279 HP:0008278 biolink:PhenotypicFeature Cerebellar cortical atrophy Atrophy (wasting) of the cerebellar cortex. UMLS:C4024710 hp.json Cerebellar cortex degeneration http://purl.obolibrary.org/obo/HP_0008278 HP:0008275 biolink:PhenotypicFeature Abnormal light-adapted electroretinogram UMLS:C4024712 hp.json Abnormal cone-mediated electroretinogram http://purl.obolibrary.org/obo/HP_0008275 HP:0008277 biolink:PhenotypicFeature Abnormal blood zinc concentration An abnormality of zinc ion homeostasis. UMLS:C4020802|UMLS:C4024711 hp.json Abnormal zinc metabolism|Abnormality of zinc homeostasis http://purl.obolibrary.org/obo/HP_0008277 HP:0008293 biolink:PhenotypicFeature Long-chain dicarboxylic aciduria An increase in the level of long-chain dicarboxylic acid in the urine. UMLS:C1837273 hp.json http://purl.obolibrary.org/obo/HP_0008293 HP:0008291 biolink:PhenotypicFeature Pituitary corticotropic cell adenoma A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). SNOMEDCT_US:254958004|MSH:D049913|SNOMEDCT_US:21109002|UMLS:C1306214 hp.json ACTH-producing pituitary adenoma|Corticotropin-secreting pituitary adenoma http://purl.obolibrary.org/obo/HP_0008291 HP:0008290 biolink:PhenotypicFeature Partial complement factor H deficiency A partial reduction in level of the complement component Factor H in circulation. UMLS:C4024708 hp.json http://purl.obolibrary.org/obo/HP_0008290 UBERON:0035650 biolink:AnatomicalEntity nerve of clitoris Any nerve that innervates the clitoris. EMAPA:35044 hp.json clitoral nerve|clitoris nerve http://purl.obolibrary.org/obo/UBERON_0035650 UBERON:0035652 biolink:AnatomicalEntity fibular nerve Any nerve that innervates the fibularis. Includes the common fibular nerve, and its branches. EMAPA:36511|MESH:D010543 hp.json peroneal nerve http://purl.obolibrary.org/obo/UBERON_0035652 grouping_class UBERON:0035651 biolink:AnatomicalEntity glans hp.json http://purl.obolibrary.org/obo/UBERON_0035651 UBERON:0035649 biolink:AnatomicalEntity nerve of penis Any nerve that innervates the penis. EMAPA:35057 hp.json penile nerve|penis nerve http://purl.obolibrary.org/obo/UBERON_0035649 UBERON:0035648 biolink:AnatomicalEntity nerve innervating pinna Any nerve that innervates the pinna. EMAPA:36513|MA:0001232 hp.json auricular nerve http://purl.obolibrary.org/obo/UBERON_0035648 HP:0008285 biolink:PhenotypicFeature Transient hypophosphatemia UMLS:C4024709 hp.json http://purl.obolibrary.org/obo/HP_0008285 HP:0008288 biolink:PhenotypicFeature Nonketotic hyperglycinemia SNOMEDCT_US:237939006|MSH:D020158|UMLS:C0751748 hp.json http://purl.obolibrary.org/obo/HP_0008288 HP:0008261 biolink:PhenotypicFeature Pancreatic islet cell adenoma The presence of an adenoma of the pancreas with origin in a pancreatic B cell. UMLS:C1851697 hp.json http://purl.obolibrary.org/obo/HP_0008261 GO:0097096 biolink:BiologicalProcess facial suture morphogenesis The process in which any suture between facial bones is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0097096 UBERON:0035662 biolink:AnatomicalEntity parotid vein FMA:50919 hp.json parotid branch of facial vein|anterior parotid vein http://purl.obolibrary.org/obo/UBERON_0035662 human_reference_atlas GO:0097094 biolink:BiologicalProcess craniofacial suture morphogenesis The process in which any suture between cranial and/or facial bones is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0097094 CHEBI:63436 biolink:ChemicalSubstance carbohydrate acid derivative A carbohydrate derivative that is formally obtained from a carbohydrate acid. hp.json carbohydrate acid derivatives http://purl.obolibrary.org/obo/CHEBI_63436 3_STAR GO:0036093 biolink:BiologicalProcess germ cell proliferation The multiplication or reproduction of germ cells, reproductive cells in multicellular organisms, resulting in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/GO_0036093 GO:0036094 biolink:MolecularActivity small molecule binding Binding to a small molecule, any low molecular weight, monomeric, non-encoded molecule. hp.json http://purl.obolibrary.org/obo/GO_0036094 goslim_agr|goslim_flybase_ribbon HP:0008256 biolink:PhenotypicFeature Adrenocortical adenoma Adrenocortical adenomas are benign tumors of the adrenal cortex. MSH:D018246|UMLS:C0206667|SNOMEDCT_US:302826002|SNOMEDCT_US:18365006|SNOMEDCT_US:255036008 hp.json Adrenocortical adenomas http://purl.obolibrary.org/obo/HP_0008256 HP:0008259 biolink:PhenotypicFeature Adrenocorticotropin receptor defect Adrenal insufficiency secondary to a defect in the ACTH receptor. UMLS:C4021548 hp.json ACTH receptor defect|Adrenocorticotropic hormone-resistant adrenal insufficiency|ACTHR defect http://purl.obolibrary.org/obo/HP_0008259 HP:0008258 biolink:PhenotypicFeature Congenital adrenal hyperplasia A type of adrenal hyperplasia with congenital onset. SNOMEDCT_US:237751000|UMLS:C0001627|MSH:D000312 hp.json http://purl.obolibrary.org/obo/HP_0008258 HP:0008255 biolink:PhenotypicFeature Transient neonatal diabetes mellitus SNOMEDCT_US:237603002|UMLS:C0342273 hp.json http://purl.obolibrary.org/obo/HP_0008255 HP:0008271 biolink:PhenotypicFeature Abnormal cartilage collagen Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. UMLS:C4021847|UMLS:C4020804|UMLS:C4020803 hp.json Abnormal type II collagen|Abnormal hyaline collagen http://purl.obolibrary.org/obo/HP_0008271 HP:0008273 biolink:PhenotypicFeature Transient aminoaciduria UMLS:C4024713 hp.json http://purl.obolibrary.org/obo/HP_0008273 HP:0008272 biolink:PhenotypicFeature Renal tubular lysine transport defect UMLS:C4024714 hp.json http://purl.obolibrary.org/obo/HP_0008272 HP:0008269 biolink:PhenotypicFeature Increased red cell hemolysis by shear stress UMLS:C3806125 hp.json http://purl.obolibrary.org/obo/HP_0008269 HP:0008264 biolink:PhenotypicFeature Neutrophil inclusion bodies The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. UMLS:C4021547 hp.json http://purl.obolibrary.org/obo/HP_0008264 HP:0008263 biolink:PhenotypicFeature Thyroid defect in oxidation and organification of iodide UMLS:C1848800 hp.json http://purl.obolibrary.org/obo/HP_0008263 HP:0008265 biolink:PhenotypicFeature Mitochondrial lysine transport defect UMLS:C4024715 hp.json http://purl.obolibrary.org/obo/HP_0008265 GO:0048066 biolink:BiologicalProcess developmental pigmentation The developmental process that results in the deposition of coloring matter in an organism, tissue or cell. hp.json pigmentation during development http://purl.obolibrary.org/obo/GO_0048066 GO:0061040 biolink:BiologicalProcess female gonad morphogenesis The process in which a female gonad is generated and organized. hp.json ovary morphogenesis http://purl.obolibrary.org/obo/GO_0061040 GO:1903226 biolink:BiologicalProcess positive regulation of endodermal cell differentiation Any process that activates or increases the frequency, rate or extent of endodermal cell differentiation. hp.json up-regulation of endoderm cell differentiation|up regulation of endoderm cell differentiation|upregulation of endodermal cell differentiation|activation of endoderm cell differentiation|positive regulation of endoderm cell differentiation|upregulation of endoderm cell differentiation|up-regulation of endodermal cell differentiation|up regulation of endodermal cell differentiation|activation of endodermal cell differentiation http://purl.obolibrary.org/obo/GO_1903226 GO:0061041 biolink:BiologicalProcess regulation of wound healing Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. hp.json http://purl.obolibrary.org/obo/GO_0061041 GO:1903225 biolink:BiologicalProcess negative regulation of endodermal cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of endodermal cell differentiation. hp.json down-regulation of endodermal cell differentiation|down regulation of endodermal cell differentiation|negative regulation of endoderm cell differentiation|down-regulation of endoderm cell differentiation|downregulation of endodermal cell differentiation|inhibition of endodermal cell differentiation|down regulation of endoderm cell differentiation|downregulation of endoderm cell differentiation|inhibition of endoderm cell differentiation http://purl.obolibrary.org/obo/GO_1903225 GO:1903224 biolink:BiologicalProcess regulation of endodermal cell differentiation Any process that modulates the frequency, rate or extent of endodermal cell differentiation. hp.json regulation of endoderm cell differentiation http://purl.obolibrary.org/obo/GO_1903224 GO:0061045 biolink:BiologicalProcess negative regulation of wound healing Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. hp.json http://purl.obolibrary.org/obo/GO_0061045 HP:0011818 biolink:PhenotypicFeature Nasofrontal encephalocele SNOMEDCT_US:253106003|UMLS:C0431291 hp.json Naso-frontal encephalocele http://purl.obolibrary.org/obo/HP_0011818 GO:0061046 biolink:BiologicalProcess regulation of branching involved in lung morphogenesis Any process that modulates the rate, frequency, or extent of the process in which a highly ordered sequence of patterning events generates the branched structures of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units. hp.json http://purl.obolibrary.org/obo/GO_0061046 GO:1903232 biolink:BiologicalProcess melanosome assembly The aggregation, arrangement and bonding together of a set of components to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. hp.json melanosome formation http://purl.obolibrary.org/obo/GO_1903232 HP:0011819 biolink:PhenotypicFeature Submucous cleft soft palate A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. UMLS:C4023175 hp.json Submucous cleft velum|Partial thickness cleft soft palate http://purl.obolibrary.org/obo/HP_0011819 hposlim_core GO:0061047 biolink:BiologicalProcess positive regulation of branching involved in lung morphogenesis Any process that increases the rate, frequency, or extent of the process in which a highly ordered sequence of patterning events generates the branched structures of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units. hp.json http://purl.obolibrary.org/obo/GO_0061047 GO:0061048 biolink:BiologicalProcess negative regulation of branching involved in lung morphogenesis Any process that decreases the rate, frequency, or extent of the process in which a highly ordered sequence of patterning events generates the branched structures of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units. hp.json http://purl.obolibrary.org/obo/GO_0061048 GO:0061049 biolink:BiologicalProcess cell growth involved in cardiac muscle cell development The growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state. hp.json cardiac muscle cell hypertrophy|cardiomyocyte growth|heart muscle cell growth http://purl.obolibrary.org/obo/GO_0061049 UBERON:0011628 biolink:AnatomicalEntity early premaxilla EHDAA2:0001495 hp.json future premaxilla http://purl.obolibrary.org/obo/UBERON_0011628 HP:0011810 biolink:PhenotypicFeature Impaired two-point discrimination A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart. UMLS:C4023178 hp.json http://purl.obolibrary.org/obo/HP_0011810 HP:0011811 biolink:PhenotypicFeature Impaired touch localization A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip. UMLS:C4021120 hp.json Impaired touch localisation|Impaired topognosis http://purl.obolibrary.org/obo/HP_0011811 GO:0048070 biolink:BiologicalProcess regulation of developmental pigmentation Any process that modulates the frequency, rate or extent of the developmental process that results in the deposition of coloring matter in an organism. hp.json regulation of pigmentation during development http://purl.obolibrary.org/obo/GO_0048070 HP:0011812 biolink:PhenotypicFeature Agraphesthesia Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination). UMLS:C1328618 hp.json http://purl.obolibrary.org/obo/HP_0011812 HP:0011813 biolink:PhenotypicFeature Increased cerebral lipofuscin Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. UMLS:C4023177 hp.json http://purl.obolibrary.org/obo/HP_0011813 HP:0011814 biolink:PhenotypicFeature Increased urinary hypoxanthine An increased level of hypoxanthine in the urine. UMLS:C3810487 hp.json http://purl.obolibrary.org/obo/HP_0011814 HP:0011815 biolink:PhenotypicFeature Cephalocele A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. SNOMEDCT_US:48777005|UMLS:C0014065|SNOMEDCT_US:55999004|SNOMEDCT_US:253101008|MSH:D004677 hp.json http://purl.obolibrary.org/obo/HP_0011815 HP:0011816 biolink:PhenotypicFeature Parietal encephalocele An encephalocele located between bregma and lambda. SNOMEDCT_US:253109005|UMLS:C0431294 hp.json http://purl.obolibrary.org/obo/HP_0011816 HP:0011817 biolink:PhenotypicFeature Basal encephalocele Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares. UMLS:C4023176 hp.json http://purl.obolibrary.org/obo/HP_0011817 CHEBI:133748 biolink:ChemicalSubstance citrate anion A tricarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of citric acid. hp.json citrate|citrate anions http://purl.obolibrary.org/obo/CHEBI_133748 3_STAR GO:0061032 biolink:BiologicalProcess visceral serous pericardium development The progression of the visceral serous pericardium from its formation to the mature structure. The visceral serous pericardium is the inner layer of the pericardium. hp.json epicardium development http://purl.obolibrary.org/obo/GO_0061032 GO:0061035 biolink:BiologicalProcess regulation of cartilage development Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. hp.json http://purl.obolibrary.org/obo/GO_0061035 HP:0011807 biolink:PhenotypicFeature Type 1 muscle fiber atrophy Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. UMLS:C4023180 hp.json Type 1 muscle fibre atrophy http://purl.obolibrary.org/obo/HP_0011807 HP:0011808 biolink:PhenotypicFeature Decreased patellar reflex Decreased intensity of the patellar reflex (also known as the knee jerk reflex). UMLS:C3277184 hp.json Decreased knee jerk reflex|Decreased patellar reflexes http://purl.obolibrary.org/obo/HP_0011808 GO:0061036 biolink:BiologicalProcess positive regulation of cartilage development Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. hp.json http://purl.obolibrary.org/obo/GO_0061036 HP:0011809 biolink:PhenotypicFeature Paradoxical myotonia A type of myotonia that worsens with repeated muscle contractions. UMLS:C4023179 hp.json http://purl.obolibrary.org/obo/HP_0011809 GO:0061037 biolink:BiologicalProcess negative regulation of cartilage development Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. hp.json http://purl.obolibrary.org/obo/GO_0061037 GO:0061038 biolink:BiologicalProcess uterus morphogenesis The process in which anatomical structures of the uterus are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0061038 GO:1905899 biolink:BiologicalProcess regulation of smooth muscle tissue development Any process that modulates the frequency, rate or extent of smooth muscle tissue development. hp.json http://purl.obolibrary.org/obo/GO_1905899 UBERON:0035606 biolink:AnatomicalEntity cartilage of external acoustic meatus FMA:61298 hp.json cartilago meatus acustici|cartilage of acoustic meatus|external acoustic meatus cartilage|cartilage of auditory canal http://purl.obolibrary.org/obo/UBERON_0035606 GO:0014734 biolink:BiologicalProcess skeletal muscle hypertrophy The enlargement or overgrowth of all or part of an organ due to an increase in size (not length) of individual muscle fibers without cell division. In the case of skeletal muscle cells this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils. hp.json http://purl.obolibrary.org/obo/GO_0014734 GO:0014733 biolink:BiologicalProcess regulation of skeletal muscle adaptation Any process in which skeletal muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. These adaptive events occur in both muscle fibers and associated structures (motoneurons and capillaries), and they involve alterations in regulatory mechanisms, contractile properties and metabolic capacities. hp.json regulation of skeletal muscle plasticity http://purl.obolibrary.org/obo/GO_0014733 CHEBI:133744 biolink:ChemicalSubstance homovanillate A hydroxy monocarboxylic acid anion which is obtained by deprotonation of the carboxy group of homovanillic acid. hp.json (4-hydroxy-3-methoxyphenyl)acetate|3-methoxy-4-hydroxyphenylacetate http://purl.obolibrary.org/obo/CHEBI_133744 3_STAR UBERON:0035608 biolink:AnatomicalEntity dura mater lymph vessel Any lymph vessel that is located in the dura mater of the brain. hp.json dural lymph vessel|dural lymph vasculature http://purl.obolibrary.org/obo/UBERON_0035608 HP:0011800 biolink:PhenotypicFeature Midface retrusion Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. UMLS:C4280321|UMLS:C4280320|UMLS:C1853242|UMLS:C2673410 hp.json Decreased size of midface|Small midface|Hypoplasia of midface|Midface retrusion|Midface, flat|Underdevelopment of midface|Midface hypoplasia|Decreased projection of midface|Flat midface|Hypotrophic midface|Midface deficiency|Retrusive midface http://purl.obolibrary.org/obo/HP_0011800 hposlim_core HP:0011801 biolink:PhenotypicFeature Enlargement of parotid gland Increased size of the parotid gland. SNOMEDCT_US:29748005|UMLS:C0341047 hp.json Hyperplasia of parotid gland|Increased size of parotid gland|Hypertrophy of parotid gland http://purl.obolibrary.org/obo/HP_0011801 HP:0011802 biolink:PhenotypicFeature Hamartoma of tongue A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. SNOMEDCT_US:253753005|UMLS:C0431565 hp.json Lingual hamartoma http://purl.obolibrary.org/obo/HP_0011802 HP:0011803 biolink:PhenotypicFeature Bifid nose Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. UMLS:C0221363|MSH:C535441|SNOMEDCT_US:204521002|UMLS:C4280319|UMLS:C4280318 hp.json Cleft nasal bridge|Indentation or clefting of the nose|Bifid nasal bridge|Indented bridge of nose|Cleft nose http://purl.obolibrary.org/obo/HP_0011803 hposlim_core HP:0011804 biolink:PhenotypicFeature Abnormal muscle physiology A functional abnormality of a skeletal muscle. UMLS:C4023182 hp.json Issue with muscle function|Abnormality of muscle physiology http://purl.obolibrary.org/obo/HP_0011804 HP:0011805 biolink:PhenotypicFeature Abnormal skeletal muscle morphology A structural abnormality of a skeletal muscle. UMLS:C4023181 hp.json Abnormal muscle morphology|Issue with muscle structure|Abnormally shaped muscle|Abnormality of muscle morphology http://purl.obolibrary.org/obo/HP_0011805 GO:0002759 biolink:BiologicalProcess regulation of antimicrobial humoral response Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response. hp.json http://purl.obolibrary.org/obo/GO_0002759 CHEBI:38497 biolink:ChemicalSubstance respiratory-chain inhibitor hp.json http://purl.obolibrary.org/obo/CHEBI_38497 1_STAR CHEBI:38496 biolink:ChemicalSubstance electron-transport chain inhibitor hp.json http://purl.obolibrary.org/obo/CHEBI_38496 1_STAR GO:0002720 biolink:BiologicalProcess positive regulation of cytokine production involved in immune response Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response. hp.json activation of cytokine production during immune response|up regulation of cytokine production during immune response|positive regulation of cytokine biosynthetic process involved in immune response|up-regulation of cytokine production during immune response|positive regulation of cytokine secretion involved in immune response|positive regulation of cytokine production during immune response|upregulation of cytokine production during immune response|stimulation of cytokine production during immune response http://purl.obolibrary.org/obo/GO_0002720 GO:0099632 biolink:BiologicalProcess protein transport within plasma membrane A process in which protein is transported from one region of the plasma membrane to another. hp.json http://purl.obolibrary.org/obo/GO_0099632 GO:0048087 biolink:BiologicalProcess positive regulation of developmental pigmentation Any process that increases the frequency, rate or extent of the developmental process that results in the deposition of coloring matter in an organism. hp.json up regulation of developmental pigmentation|upregulation of developmental pigmentation|stimulation of developmental pigmentation|up-regulation of developmental pigmentation|activation of developmental pigmentation http://purl.obolibrary.org/obo/GO_0048087 GO:0048086 biolink:BiologicalProcess negative regulation of developmental pigmentation Any process that decreases the frequency, rate or extent of the developmental process that results in the deposition of coloring matter in an organism. hp.json down regulation of developmental pigmentation|down-regulation of developmental pigmentation|inhibition of pigmentation|downregulation of developmental pigmentation http://purl.obolibrary.org/obo/GO_0048086 NCBITaxon:4751 biolink:OrganismalEntity Fungi PMID:11062127|PMID:12684019|GC_ID:1 hp.json Mycota|fungi http://purl.obolibrary.org/obo/NCBITaxon_4751 CHEBI:51446 biolink:ChemicalSubstance organic divalent group hp.json http://purl.obolibrary.org/obo/CHEBI_51446 1_STAR CHEBI:51447 biolink:ChemicalSubstance organic univalent group hp.json http://purl.obolibrary.org/obo/CHEBI_51447 1_STAR GO:0014706 biolink:BiologicalProcess striated muscle tissue development The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells. hp.json http://purl.obolibrary.org/obo/GO_0014706 GO:0061061 biolink:BiologicalProcess muscle structure development The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms. hp.json http://purl.obolibrary.org/obo/GO_0061061 goslim_drosophila GO:0085029 biolink:BiologicalProcess extracellular matrix assembly The aggregation, arrangement and bonding together of the extracellular matrix. hp.json http://purl.obolibrary.org/obo/GO_0085029 UBERON:0011602 biolink:AnatomicalEntity gingiva of lower jaw A gingiva that is part of a lower jaw region. NCIT:C54204|EMAPA:18967|FMA:59764 hp.json lower jaw gum|lower gum|lower jaw gingiva|lower gingiva|gum of lower jaw|mandibular gum|gum of mandible http://purl.obolibrary.org/obo/UBERON_0011602 pheno_slim UBERON:0011601 biolink:AnatomicalEntity gingiva of upper jaw A gingiva that is part of a upper jaw region. FMA:59763|NCIT:C54205|EMAPA:18970 hp.json gum of upper jaw|maxillary gum|upper gum|upper jaw gingiva|upper gingiva|gum of maxilla http://purl.obolibrary.org/obo/UBERON_0011601 pheno_slim UBERON:0011607 biolink:AnatomicalEntity hyomandibular cartilage Cartilage form of the hyomandibular element. ZFA:0001422|TAO:0001422|VHOG:0000688|EFO:0003686 hp.json symplectic cartilage|hyosymplectic cartilage http://purl.obolibrary.org/obo/UBERON_0011607 efo_slim UBERON:0011606 biolink:AnatomicalEntity hyomandibular bone Replacement bone that is bilaterally paired and (in teleosts) articulates with the neurocranium dorsally and the opercle posteriorly[TAO,modified]. ZFA:0000672|TAO:0000672|EFO:0003556|VHOG:0000688 hp.json hyomandibular|hyomandibula http://purl.obolibrary.org/obo/UBERON_0011606 efo_slim UBERON:0011608 biolink:AnatomicalEntity hyomandibular element The upper paired deep bone or cartilage of the hyoid region, sometimes taking part in jaw suspension and which supports the opercle. Dorsally it articulates with the otic capsule at the hyomandibular fossa, ventrally with the quadrate and symplectic. In most Teleostei it has a foramen for the hyomandibular branch of the facial nerve (VII). TAO:0000672|VHOG:0000688 hp.json hyomandibula|hyomandibula element|hyomandibula - stapes|epihyal http://purl.obolibrary.org/obo/UBERON_0011608 GO:0002724 biolink:BiologicalProcess regulation of T cell cytokine production Any process that modulates the frequency, rate, or extent of T cell cytokine production. hp.json regulation of T-cell cytokine production|regulation of T lymphocyte cytokine production|regulation of T-lymphocyte cytokine production http://purl.obolibrary.org/obo/GO_0002724 GO:0002725 biolink:BiologicalProcess negative regulation of T cell cytokine production Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell cytokine production. hp.json down regulation of T cell cytokine production|inhibition of T cell cytokine production|down-regulation of T cell cytokine production|negative regulation of T-cell cytokine production|negative regulation of T lymphocyte cytokine production|negative regulation of T-lymphocyte cytokine production|downregulation of T cell cytokine production http://purl.obolibrary.org/obo/GO_0002725 GO:0002726 biolink:BiologicalProcess positive regulation of T cell cytokine production Any process that activates or increases the frequency, rate, or extent of T cell cytokine production. hp.json upregulation of T cell cytokine production|up regulation of T cell cytokine production|stimulation of T cell cytokine production|positive regulation of T-cell cytokine production|positive regulation of T lymphocyte cytokine production|up-regulation of T cell cytokine production|activation of T cell cytokine production|positive regulation of T-lymphocyte cytokine production http://purl.obolibrary.org/obo/GO_0002726 GO:0099643 biolink:BiologicalProcess signal release from synapse Any signal release from a synapse. hp.json http://purl.obolibrary.org/obo/GO_0099643 goslim_synapse GO:0002731 biolink:BiologicalProcess negative regulation of dendritic cell cytokine production Any process that stops, prevents, or reduces the frequency, rate, or extent of dendritic cell cytokine production. hp.json downregulation of dendritic cell cytokine production|down regulation of dendritic cell cytokine production|inhibition of dendritic cell cytokine production|down-regulation of dendritic cell cytokine production http://purl.obolibrary.org/obo/GO_0002731 GO:0002732 biolink:BiologicalProcess positive regulation of dendritic cell cytokine production Any process that activates or increases the frequency, rate, or extent of dendritic cell cytokine production. hp.json up regulation of dendritic cell cytokine production|stimulation of dendritic cell cytokine production|up-regulation of dendritic cell cytokine production|activation of dendritic cell cytokine production|upregulation of dendritic cell cytokine production http://purl.obolibrary.org/obo/GO_0002732 GO:0002733 biolink:BiologicalProcess regulation of myeloid dendritic cell cytokine production Any process that modulates the frequency, rate, or extent of myeloid dendritic cell cytokine production. hp.json http://purl.obolibrary.org/obo/GO_0002733 GO:0099641 biolink:BiologicalProcess anterograde axonal protein transport The directed movement of proteins along microtubules from the cell body toward the cell periphery in nerve cell axons. hp.json anterograde axon cargo transport http://purl.obolibrary.org/obo/GO_0099641 goslim_synapse GO:0099642 biolink:BiologicalProcess retrograde axonal protein transport The directed movement of proteins along microtubules from the cell periphery toward the cell body in nerve cell axons. hp.json retrograde axon cargo transport http://purl.obolibrary.org/obo/GO_0099642 goslim_synapse GO:0002734 biolink:BiologicalProcess negative regulation of myeloid dendritic cell cytokine production Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid dendritic cell cytokine production. hp.json down regulation of myeloid dendritic cell cytokine production|inhibition of myeloid dendritic cell cytokine production|down-regulation of myeloid dendritic cell cytokine production|downregulation of myeloid dendritic cell cytokine production http://purl.obolibrary.org/obo/GO_0002734 GO:0099640 biolink:BiologicalProcess axo-dendritic protein transport The directed movement of proteins along microtubules in neuron projections. hp.json axonal protein transport http://purl.obolibrary.org/obo/GO_0099640 goslim_synapse GO:0002730 biolink:BiologicalProcess regulation of dendritic cell cytokine production Any process that modulates the frequency, rate, or extent of dendritic cell cytokine production. hp.json http://purl.obolibrary.org/obo/GO_0002730 GO:0061050 biolink:BiologicalProcess regulation of cell growth involved in cardiac muscle cell development Any process that modulates the rate, frequency, or extent of the growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state. hp.json http://purl.obolibrary.org/obo/GO_0061050 GO:0061051 biolink:BiologicalProcess positive regulation of cell growth involved in cardiac muscle cell development Any process that increases the rate, frequency, or extent of the growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state. hp.json http://purl.obolibrary.org/obo/GO_0061051 GO:0061052 biolink:BiologicalProcess negative regulation of cell growth involved in cardiac muscle cell development Any process that decreases the rate, frequency, or extent of the growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state. hp.json http://purl.obolibrary.org/obo/GO_0061052 GO:0061053 biolink:BiologicalProcess somite development The progression of a somite from its initial formation to the mature structure. Somites are mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. hp.json http://purl.obolibrary.org/obo/GO_0061053 GO:0061054 biolink:BiologicalProcess dermatome development The progression of the dermatome over time, from its initial formation to the mature structure. The dermatome is the portion of a somite that will form skin. hp.json http://purl.obolibrary.org/obo/GO_0061054 GO:0061055 biolink:BiologicalProcess myotome development The progression of the myotome over time, from its formation to the mature structure. The myotome is the portion of the somite that will give rise to muscle. hp.json http://purl.obolibrary.org/obo/GO_0061055 GO:0061056 biolink:BiologicalProcess sclerotome development The progression of the sclerotome over time, from its initial formation to the mature structure. The sclerotome is the portion of the somite that will give rise to a vertebra. hp.json http://purl.obolibrary.org/obo/GO_0061056 GO:0002735 biolink:BiologicalProcess positive regulation of myeloid dendritic cell cytokine production Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell cytokine production. hp.json upregulation of myeloid dendritic cell cytokine production|stimulation of myeloid dendritic cell cytokine production|up regulation of myeloid dendritic cell cytokine production|activation of myeloid dendritic cell cytokine production|up-regulation of myeloid dendritic cell cytokine production http://purl.obolibrary.org/obo/GO_0002735 GO:0002700 biolink:BiologicalProcess regulation of production of molecular mediator of immune response Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response. hp.json http://purl.obolibrary.org/obo/GO_0002700 GO:0002701 biolink:BiologicalProcess negative regulation of production of molecular mediator of immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response. hp.json down-regulation of production of molecular mediator of immune response|down regulation of production of molecular mediator of immune response|inhibition of production of molecular mediator of immune response|downregulation of production of molecular mediator of immune response http://purl.obolibrary.org/obo/GO_0002701 CHEBI:51422 biolink:ChemicalSubstance organodiyl group Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s). hp.json organodiyl groups http://purl.obolibrary.org/obo/CHEBI_51422 3_STAR HP:0011850 biolink:PhenotypicFeature Parotitis Inflammation of the parotid gland. UMLS:C0030583|MSH:D010309|SNOMEDCT_US:14756005 hp.json http://purl.obolibrary.org/obo/HP_0011850 HP:0011851 biolink:PhenotypicFeature Hemopericardium Accumulation of blood within the pericardial sac. UMLS:C0019064|MSH:D010490|SNOMEDCT_US:23412002 hp.json http://purl.obolibrary.org/obo/HP_0011851 HP:0011852 biolink:PhenotypicFeature Chylopericardium Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. MSH:D010490|SNOMEDCT_US:233890005|UMLS:C0242426 hp.json http://purl.obolibrary.org/obo/HP_0011852 GO:0061080 biolink:BiologicalProcess right horn of sinus venosus development The progression of the right horn of the sinus venosus from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0061080 GO:0061081 biolink:BiologicalProcess positive regulation of myeloid leukocyte cytokine production involved in immune response Any process that modulates the rate, frequency, or extent of the production of a cytokine that contributes to the immune response. hp.json positive regulation of myeloid cell cytokine production involved in immune response http://purl.obolibrary.org/obo/GO_0061081 NCBITaxon:2157 biolink:OrganismalEntity Archaea PMID:11542149|PMID:2112744|PMID:10843050|PMID:10939673|PMID:10939651|PMID:11211268|PMID:11321113|PMID:10490293|PMID:25527841|PMID:10425797|PMID:270744|PMID:10425796|PMID:11411719|PMID:8123559|PMID:10425795|PMID:11542064|GC_ID:11|PMID:11321083|PMID:11540071|PMID:9336922|PMID:11760965|PMID:9103655|PMID:10939677|PMID:8590690|PMID:11541975|PMID:12054223 hp.json Procaryotae|Archaebacteria|Monera|prokaryote|Metabacteria|Prokaryotae|Prokaryota|Mendosicutes|archaea|prokaryotes http://purl.obolibrary.org/obo/NCBITaxon_2157 HP:0011853 biolink:PhenotypicFeature Serous pericardial effusion Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac. UMLS:C4023160 hp.json http://purl.obolibrary.org/obo/HP_0011853 CHEBI:26469 biolink:ChemicalSubstance quaternary nitrogen compound A nitrogen molecular entity that is electronically neutral but which contains a quaternary nitrogen. hp.json http://purl.obolibrary.org/obo/CHEBI_26469 3_STAR GO:0061082 biolink:BiologicalProcess myeloid leukocyte cytokine production Any process that contributes to cytokine production by a myeloid cell. hp.json http://purl.obolibrary.org/obo/GO_0061082 gocheck_do_not_annotate CHEBI:26463 biolink:ChemicalSubstance pyruvate family amino acid An L-alpha-amino acid which is biosynthesised from pyruvate (i.e. alanine, valine, and leucine). A closed class. hp.json pyruvate family amino acids http://purl.obolibrary.org/obo/CHEBI_26463 3_STAR UBERON:0011676 biolink:AnatomicalEntity subdivision of organism along main body axis A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. hp.json axial subdivision of organism|body segment|main body segment http://purl.obolibrary.org/obo/UBERON_0011676 upper_level HP:0011854 biolink:PhenotypicFeature Hemoperitoneum Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. UMLS:C0019065|UMLS:C0744735|MSH:D006465|SNOMEDCT_US:443826006|SNOMEDCT_US:45626005 hp.json Hematoperitoneum http://purl.obolibrary.org/obo/HP_0011854 GO:0002706 biolink:BiologicalProcess regulation of lymphocyte mediated immunity Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity. hp.json http://purl.obolibrary.org/obo/GO_0002706 HP:0011855 biolink:PhenotypicFeature Pharyngeal edema Abnormal accumulation of fluid leading to swelling of the pharynx. SNOMEDCT_US:2129002|UMLS:C0236024 hp.json Swollen throat|Pharyngeal oedema|Throat swelling http://purl.obolibrary.org/obo/HP_0011855 GO:0002707 biolink:BiologicalProcess negative regulation of lymphocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphocyte mediated immunity. hp.json downregulation of lymphocyte mediated immunity|down regulation of lymphocyte mediated immunity|inhibition of lymphocyte mediated immunity|down-regulation of lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002707 HP:0011856 biolink:PhenotypicFeature Pica An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. UMLS:C0031873|SNOMEDCT_US:14077003|MSH:D010842 hp.json http://purl.obolibrary.org/obo/HP_0011856 GO:0002708 biolink:BiologicalProcess positive regulation of lymphocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of lymphocyte mediated immunity. hp.json stimulation of lymphocyte mediated immunity|up regulation of lymphocyte mediated immunity|up-regulation of lymphocyte mediated immunity|activation of lymphocyte mediated immunity|upregulation of lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002708 GO:0002709 biolink:BiologicalProcess regulation of T cell mediated immunity Any process that modulates the frequency, rate, or extent of T cell mediated immunity. hp.json regulation of T-lymphocyte mediated immunity|regulation of T-cell mediated immunity|regulation of T lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002709 HP:0011857 biolink:PhenotypicFeature Plasmacytoma A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location. SNOMEDCT_US:10639003|UMLS:C0032131|SNOMEDCT_US:415112005|MSH:D010954 hp.json http://purl.obolibrary.org/obo/HP_0011857 HP:0011858 biolink:PhenotypicFeature Reduced factor IX activity Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. UMLS:C4023159 hp.json Low factor IX activity http://purl.obolibrary.org/obo/HP_0011858 GO:0002702 biolink:BiologicalProcess positive regulation of production of molecular mediator of immune response Any process that activates or increases the frequency, rate, or extent of the production of molecular mediator of immune response. hp.json stimulation of production of molecular mediator of immune response|upregulation of production of molecular mediator of immune response|up-regulation of production of molecular mediator of immune response|up regulation of production of molecular mediator of immune response|activation of production of molecular mediator of immune response http://purl.obolibrary.org/obo/GO_0002702 HP:0011859 biolink:PhenotypicFeature Punctate keratitis A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. UMLS:C1562761|SNOMEDCT_US:416300008 hp.json http://purl.obolibrary.org/obo/HP_0011859 CHEBI:38443 biolink:ChemicalSubstance 1-benzopyran hp.json 1-benzopyrans http://purl.obolibrary.org/obo/CHEBI_38443 3_STAR GO:0002703 biolink:BiologicalProcess regulation of leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity. hp.json regulation of immune cell mediated immunity|regulation of leucocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002703 GO:0002704 biolink:BiologicalProcess negative regulation of leukocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity. hp.json down-regulation of leukocyte mediated immunity|down regulation of leukocyte mediated immunity|downregulation of leukocyte mediated immunity|inhibition of leukocyte mediated immunity|negative regulation of immune cell mediated immunity|negative regulation of leucocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002704 GO:0002705 biolink:BiologicalProcess positive regulation of leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity. hp.json upregulation of leukocyte mediated immunity|positive regulation of immune cell mediated immunity|positive regulation of leucocyte mediated immunity|up-regulation of leukocyte mediated immunity|up regulation of leukocyte mediated immunity|activation of leukocyte mediated immunity|stimulation of leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002705 GO:0002710 biolink:BiologicalProcess negative regulation of T cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity. hp.json negative regulation of T-lymphocyte mediated immunity|downregulation of T cell mediated immunity|down regulation of T cell mediated immunity|inhibition of T cell mediated immunity|down-regulation of T cell mediated immunity|negative regulation of T-cell mediated immunity|negative regulation of T lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002710 GO:0002711 biolink:BiologicalProcess positive regulation of T cell mediated immunity Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity. hp.json stimulation of T cell mediated immunity|up regulation of T cell mediated immunity|positive regulation of T-cell mediated immunity|positive regulation of T lymphocyte mediated immunity|up-regulation of T cell mediated immunity|activation of T cell mediated immunity|positive regulation of T-lymphocyte mediated immunity|upregulation of T cell mediated immunity http://purl.obolibrary.org/obo/GO_0002711 GO:0097048 biolink:BiologicalProcess dendritic cell apoptotic process Any apoptotic process in a dendritic cell, a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. hp.json dendritic cell apoptosis http://purl.obolibrary.org/obo/GO_0097048 HP:0011840 biolink:PhenotypicFeature Abnormality of T cell physiology A functional anomaly of T cells. UMLS:C4023166 hp.json http://purl.obolibrary.org/obo/HP_0011840 HP:0011841 biolink:PhenotypicFeature Ventricular flutter A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. MSH:D054141|SNOMEDCT_US:111288001|UMLS:C0152173 hp.json http://purl.obolibrary.org/obo/HP_0011841 HP:0011842 biolink:PhenotypicFeature Abnormal skeletal morphology An abnormality of the form, structure, or size of the skeletal system. UMLS:C4023165 hp.json Abnormally shaped skeletal|Abnormality of skeletal morphology http://purl.obolibrary.org/obo/HP_0011842 OBO:MAXO_0009069 biolink:NamedThing vitamin measurement The determination of the type and/or amount of vitamins in a sample. hp.json http://purl.obolibrary.org/obo/MAXO_0009069 GO:0061072 biolink:BiologicalProcess iris morphogenesis The process in which the iris is generated and organized. The iris is an anatomical structure in the eye whose opening forms the pupil. The iris is responsible for controlling the diameter and size of the pupil and the amount of light reaching the retina. hp.json http://purl.obolibrary.org/obo/GO_0061072 GO:0061073 biolink:BiologicalProcess ciliary body morphogenesis The process in which the ciliary body generated and organized. The ciliary body is the circumferential tissue inside the eye composed of the ciliary muscle and ciliary processes. hp.json http://purl.obolibrary.org/obo/GO_0061073 OBO:MAXO_0009067 biolink:NamedThing examination by urologist A direct appraisal of a patient's condition by a urology specialist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json http://purl.obolibrary.org/obo/MAXO_0009067 OBO:MAXO_0009068 biolink:NamedThing allied health professional examination A direct appraisal of a patient's condition by an allied health professional specialist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json examination by allied health professional http://purl.obolibrary.org/obo/MAXO_0009068 GO:0061074 biolink:BiologicalProcess regulation of neural retina development Any process that modulates the rate, frequency, or extent of neural retina development, the progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. hp.json http://purl.obolibrary.org/obo/GO_0061074 GO:0061075 biolink:BiologicalProcess positive regulation of neural retina development Any process that increases the rate, frequency, or extent of neural retina development, the progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. hp.json http://purl.obolibrary.org/obo/GO_0061075 OBO:MAXO_0009065 biolink:NamedThing intravenous pyelogram A test that involves the administration of intravenous contrast and X-ray imaging of the urinary tract. The iodinated contrast flows through the renal vasculature and filtered into the collecting system highlighting the anatomic structures on the X-ray image. hp.json IVP|intravenous urography http://purl.obolibrary.org/obo/MAXO_0009065 GO:0061076 biolink:BiologicalProcess negative regulation of neural retina development Any process that decreases the rate, frequency, or extent of neural retina development, the progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. hp.json http://purl.obolibrary.org/obo/GO_0061076 OBO:MAXO_0009066 biolink:NamedThing examination by psychiatrist A direct appraisal of a patient's condition by a psychiatric specialist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json psychiatric examination http://purl.obolibrary.org/obo/MAXO_0009066 OBO:MAXO_0009063 biolink:NamedThing examination by pediatrician A direct appraisal of a patient's condition by a pediatric specialist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json pediatric examination http://purl.obolibrary.org/obo/MAXO_0009063 OBO:MAXO_0009064 biolink:NamedThing examination by physiatrist A direct appraisal of a patient's condition by a physical medicine and rehabilition specialist that is based on a physical exam, medical history, and the patient's account of symptoms. hp.json examination by physical mediciane and rehabilitation specialist http://purl.obolibrary.org/obo/MAXO_0009064 HP:0008209 biolink:PhenotypicFeature Premature ovarian insufficiency Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. UMLS:C0025322|MSH:D008594|MSH:D016649|SNOMEDCT_US:373717006|UMLS:C0085215 hp.json Early menopause|Premature ovarian failure|Primary ovarian insufficiency|Climacterium praecox|Menopause praecox|Hypergonadotropic amenorrhea|Premature menopause http://purl.obolibrary.org/obo/HP_0008209 OBO:MAXO_0009070 biolink:NamedThing single-photon emission computed tomography Delivery of a gamma-emitting radioisotope (a radionuclide) into the patient, normally through injection into the bloodstream and detected by gamma camera The radioisotope could be is a simple soluble dissolved ion, such as an isotope of gallium(III), or a marker radioisotope is attached to a specific ligand to create a radioligand targeting a place of interest in the body. hp.json SPECT http://purl.obolibrary.org/obo/MAXO_0009070 OBO:MAXO_0009071 biolink:NamedThing fat soluble vitamin measurement The determination of the type and/or amount of fat-soluble vitamins in a sample. hp.json http://purl.obolibrary.org/obo/MAXO_0009071 PR:Q62351 biolink:Protein transferrin receptor protein 1 (mouse) A transferrin receptor protein 1 that is encoded in the genome of mouse. UniProtKB:Q62351 hp.json CD71 (mouse)|TR (mouse)|Trfr|mTFRC|TfR1 (mouse)|Tfrc|TfR (mouse) http://purl.obolibrary.org/obo/PR_Q62351 HP:0008205 biolink:PhenotypicFeature Insulin-dependent but ketosis-resistant diabetes Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. UMLS:C1842404 hp.json http://purl.obolibrary.org/obo/HP_0008205 HP:0008208 biolink:PhenotypicFeature Parathyroid hyperplasia Hyperplasia of the parathyroid gland. UMLS:C0271844|SNOMEDCT_US:9092004 hp.json Enlarged parathyroid glands http://purl.obolibrary.org/obo/HP_0008208 HP:0008207 biolink:PhenotypicFeature Primary adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. SNOMEDCT_US:373662000|SNOMEDCT_US:363732003|SNOMEDCT_US:386584007|MSH:D000224|UMLS:C0001403|UMLS:C0405580 hp.json Primary adrenocortical failure|Addison disease|Adrenocortical insufficiency|Addison's disease http://purl.obolibrary.org/obo/HP_0008207 HP:0008202 biolink:PhenotypicFeature Reduced circulating prolactin concentration A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. UMLS:C0271586|MSH:C562708|SNOMEDCT_US:67873006 hp.json Prolactin deficiency http://purl.obolibrary.org/obo/HP_0008202 HP:0011843 biolink:PhenotypicFeature Abnormal musculoskeletal physiology An abnormality of the function of the skeletal system. UMLS:C4023164 hp.json Abnormality of musculoskeletal physiology http://purl.obolibrary.org/obo/HP_0011843 GO:0002718 biolink:BiologicalProcess regulation of cytokine production involved in immune response Any process that modulates the frequency, rate, or extent of cytokine production that contributes to an immune response. hp.json regulation of cytokine biosynthetic process involved in immune response|regulation of cytokine secretion involved in immune response|regulation of cytokine production during immune response http://purl.obolibrary.org/obo/GO_0002718 HP:0011844 biolink:PhenotypicFeature Abnormal appendicular skeleton morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. UMLS:C4023163 hp.json http://purl.obolibrary.org/obo/HP_0011844 HP:0008204 biolink:PhenotypicFeature Precocious puberty with Sertoli cell tumor UMLS:C1868007 hp.json Precocious puberty with Sertoli cell tumour http://purl.obolibrary.org/obo/HP_0008204 HP:0011845 biolink:PhenotypicFeature Short second metatarsal Short (hypoplastic) second metatarsal bone. UMLS:C4023162 hp.json Short 2nd long bone of foot http://purl.obolibrary.org/obo/HP_0011845 GO:0002719 biolink:BiologicalProcess negative regulation of cytokine production involved in immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response. hp.json inhibition of cytokine production during immune response|negative regulation of cytokine secretion involved in immune response|downregulation of cytokine production during immune response|down-regulation of cytokine production during immune response|negative regulation of cytokine production during immune response|negative regulation of cytokine biosynthetic process involved in immune response|down regulation of cytokine production during immune response http://purl.obolibrary.org/obo/GO_0002719 HP:0011846 biolink:PhenotypicFeature Osteoblastoma A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. UMLS:C0029417|SNOMEDCT_US:55333008|MSH:D018215 hp.json http://purl.obolibrary.org/obo/HP_0011846 HP:0011847 biolink:PhenotypicFeature Giant cell tumor of bone A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. SNOMEDCT_US:57500000|UMLS:C0206638|MSH:D018212|SNOMEDCT_US:697970009 hp.json Giant cell tumour of bone http://purl.obolibrary.org/obo/HP_0011847 HP:0011848 biolink:PhenotypicFeature Abdominal colic A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity. UMLS:C0232488|SNOMEDCT_US:9991008|MSH:D003085 hp.json http://purl.obolibrary.org/obo/HP_0011848 GO:0097049 biolink:BiologicalProcess motor neuron apoptotic process Any apoptotic process in a motor neuron, an efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement. hp.json motor neuron apoptosis|motoneuron apoptosis http://purl.obolibrary.org/obo/GO_0097049 HP:0008200 biolink:PhenotypicFeature Primary hyperparathyroidism A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. SNOMEDCT_US:36348003|MSH:D049950|UMLS:C0221002 hp.json http://purl.obolibrary.org/obo/HP_0008200 HP:0011849 biolink:PhenotypicFeature Abnormal bone ossification Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. UMLS:C4280317|MP:0008271|UMLS:C4023161 hp.json Abnormal bone maturation http://purl.obolibrary.org/obo/HP_0011849 GO:0097014 biolink:CellularComponent ciliary plasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. hp.json cilium plasm|microtubule-based flagellar cytoplasm|cilial cytoplasm|microtubule-based flagellar matrix|cilium cytoplasm|microtubule-based flagellum cytoplasm|microtubule-based flagellum matrix|ciliary cytoplasm http://purl.obolibrary.org/obo/GO_0097014 HP:0011830 biolink:PhenotypicFeature Abnormal oral mucosa morphology Abnormality of the oral mucosa. UMLS:C4023170 hp.json Abnormality of oral mucous membrane|Abnormality of mucosa of mouth|Abnormality of lining of mouth|Abnormality of oral mucosa http://purl.obolibrary.org/obo/HP_0011830 hposlim_core HP:0011831 biolink:PhenotypicFeature Deviated nasal tip Nasal tip positioned to one side of the midline. UMLS:C4021114|UMLS:C4280271 hp.json Deviated nasal tip|Nasal tip, deviated|Distortion of the nasal tip|Crooked tip of nose|Asymmetry of tip of nose|Crooked nasal tip|Asymmetry of nasal tip|Deviated tip of nose http://purl.obolibrary.org/obo/HP_0011831 CHEBI:26447 biolink:ChemicalSubstance pyrimidinemonocarboxylic acid hp.json pyrimidinemonocarboxylic acids http://purl.obolibrary.org/obo/CHEBI_26447 3_STAR UBERON:2001950 biolink:AnatomicalEntity inter-premaxillary joint Joint that articulates the left and right premaxillary bones. Inter-premaxillary joint is unpaired. ZFA:0005475 hp.json http://purl.obolibrary.org/obo/UBERON_2001950 UBERON:0011645 biolink:AnatomicalEntity iliofemoralis muscle Limb extensor that runs from ilium to femur. hp.json iliofemoralis http://purl.obolibrary.org/obo/UBERON_0011645 UBERON:2001947 biolink:AnatomicalEntity hyomandibular-otic region joint Joint that articulates the hyomandibular cartilage or bone and otic region cartilage or sphenotic bone, and often pterotic bone and prootic bone. Hyomandibular-otic region joint is paired. ZFA:0005544 hp.json http://purl.obolibrary.org/obo/UBERON_2001947 GO:1903292 biolink:BiologicalProcess protein localization to Golgi membrane A process in which a protein is transported to, or maintained in, a location within a Golgi membrane. hp.json protein localisation to Golgi membrane|protein localization in Golgi membrane|protein localisation in Golgi membrane http://purl.obolibrary.org/obo/GO_1903292 UBERON:0011648 biolink:AnatomicalEntity jaw muscle AAO:0000247|EFO:0003511|ZFA:0000236|XAO:0003269|TAO:0000236 hp.json mandibular muscle|mandibular muscles http://purl.obolibrary.org/obo/UBERON_0011648 pheno_slim|efo_slim HP:0011832 biolink:PhenotypicFeature Narrow nasal tip Decrease in width of the nasal tip. SNOMEDCT_US:249331008|UMLS:C0426433 hp.json Nasal tip, narrow|Narrow tip of nose|Thin tip of nose|Narrow nasal tip|Pinched tip of nose|Thin nasal tip|Nasal tip, pinched|Pinched nasal tip http://purl.obolibrary.org/obo/HP_0011832 hposlim_core HP:0011833 biolink:PhenotypicFeature Overhanging nasal tip Positioning of the nasal tip inferior to the nasal base. UMLS:C0426430|SNOMEDCT_US:249328007 hp.json Low hanging nasal tip|Hooked tip of nose|Drooping nasal tip|Nasal tip, overhanging|Overhanging nasal tip http://purl.obolibrary.org/obo/HP_0011833 hposlim_core UBERON:0008000 biolink:AnatomicalEntity sesamoid bone of pes A sesamoid bone that is part of a pes. FMA:45096 hp.json sesamoid bone of foot http://purl.obolibrary.org/obo/UBERON_0008000 HP:0011834 biolink:PhenotypicFeature Moyamoya phenomenon A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. UMLS:C4023169 hp.json http://purl.obolibrary.org/obo/HP_0011834 UBERON:0008001 biolink:AnatomicalEntity irregular bone The irregular bones are bones which, from their peculiar form, cannot be grouped as long bone, short bone, flat bone or sesamoid bone. Irregular bones serve various purposes in the body, such as protection of nervous tissue, affording multiple anchor points for skeletal muscle attachment (as with the sacrum), and maintaining pharynx and trachea support, and tongue attachment (such as the hyoid bone). They consist of cancellous tissue enclosed within a thin layer of compact bone. The irregular bones are: the vertebrC&, sacrum, coccyx, temporal, sphenoid, ethmoid, zygomatic, maxilla, mandible, palatine, inferior nasal concha, and hyoid. FMA:7477|NCIT:C32881|UMLS:C0502414|Wikipedia:Irregular_bone|SCTID:421560006 hp.json os irregulare|os irregulare|os irregulare http://purl.obolibrary.org/obo/UBERON_0008001 HP:0011835 biolink:PhenotypicFeature Absent scaphoid Congenital absence of the scaphoid.. UMLS:C1847189 hp.json Missing scaphoid bone|Absent scaphoid bone http://purl.obolibrary.org/obo/HP_0011835 HP:0011836 biolink:PhenotypicFeature Delayed talus ossification Delayed maturation and calcification of the talus. UMLS:C4023168 hp.json http://purl.obolibrary.org/obo/HP_0011836 HP:0011837 biolink:PhenotypicFeature Partial IgA deficiency Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means. UMLS:C4023167 hp.json http://purl.obolibrary.org/obo/HP_0011837 HP:0011838 biolink:PhenotypicFeature Sclerodactyly Localized thickening and tightness of the skin of the fingers or toes. UMLS:C0150988|SNOMEDCT_US:201051000|SNOMEDCT_US:298285004|ICD-10:L94.3 hp.json http://purl.obolibrary.org/obo/HP_0011838 HP:0011839 biolink:PhenotypicFeature Abnormal T cell count A deviation from the normal count of T cells. UMLS:C4021113 hp.json Abnormality of T cell number|Abnormal number of T cells http://purl.obolibrary.org/obo/HP_0011839 GO:0097026 biolink:BiologicalProcess dendritic cell dendrite assembly Formation of dendrites, branched cellular projections (or cytoplasmic extension) that are extended from the surface of a dendritic immune cell, and which enable the cell to sample luminal pathogens and increase the surface area for antigen presentation to T cells. hp.json dendritic extension http://purl.obolibrary.org/obo/GO_0097026 CHEBI:26455 biolink:ChemicalSubstance pyrroles An azole that includes only one N atom and no other heteroatom as a part of the aromatic skeleton. hp.json http://purl.obolibrary.org/obo/CHEBI_26455 3_STAR CHEBI:26456 biolink:ChemicalSubstance pyrrolidine alkaloid hp.json pyrrolidine alkaloids http://purl.obolibrary.org/obo/CHEBI_26456 3_STAR HP:0011820 biolink:PhenotypicFeature Membranous choanal atresia Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike. UMLS:C4023174 hp.json http://purl.obolibrary.org/obo/HP_0011820 UBERON:0011642 biolink:AnatomicalEntity oral epithelium from ectoderm An epithelium that develops_from a ectoderm and is part of a oral epithelium. EHDAA2:0004137 hp.json http://purl.obolibrary.org/obo/UBERON_0011642 UBERON:0011641 biolink:AnatomicalEntity odontogenic mesenchyme of molar An odontogenic papilla that is part of a molar tooth [Automatically generated definition]. MA:0003230|EMAPA:32881 hp.json molar mesenchyme|odontogenic mesenchyme of molar tooth http://purl.obolibrary.org/obo/UBERON_0011641 HP:0011829 biolink:PhenotypicFeature Narrow philtrum Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. UMLS:C4021115 hp.json Decreased horizontal dimension of philtrum|Decreased breadth of philtrum|Thin philtrum|Decreased transverse dimension of philtrum|Philtrum, Narrow|Decreased width of philtrum http://purl.obolibrary.org/obo/HP_0011829 hposlim_core HP:0011821 biolink:PhenotypicFeature Abnormal facial skeleton morphology An abnormality of one or more of the set of bones that make up the facial skeleton. SNOMEDCT_US:433096001|UMLS:C2315229 hp.json Anomaly of facial bones|Anomaly of facial skeleton|Malformation of facial skeleton|Deformity of facial skeleton|Malformation of facial bones|Deformity of the facial bones|Abnormality of facial skeleton|Abnormality of facial bones http://purl.obolibrary.org/obo/HP_0011821 HP:0011822 biolink:PhenotypicFeature Broad chin Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. UMLS:C4023172 hp.json Increased width of chin|Increased width of menton region|Broad chin|Wide chin http://purl.obolibrary.org/obo/HP_0011822 hposlim_core HP:0011823 biolink:PhenotypicFeature Chin with horizontal crease Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. UMLS:C4023171 hp.json Chin with horizontal sulcus|Chin with horizontal furrow|Horizontal menton crease|Chin with horizontal crease|Horizontal chin skin cleft|Chin with horizontal groove http://purl.obolibrary.org/obo/HP_0011823 HP:0011824 biolink:PhenotypicFeature Chin with H-shaped crease H-shaped crease in the fat pad of the chin. UMLS:C1860309 hp.json H-shaped dimple of the chin|Chin, H-Shaped Crease|Chin, H-shaped groove|Chin with H-shaped crease http://purl.obolibrary.org/obo/HP_0011824 GO:0097028 biolink:BiologicalProcess dendritic cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. hp.json http://purl.obolibrary.org/obo/GO_0097028 HP:0011825 biolink:PhenotypicFeature Tented philtrum Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. UMLS:C4021119 hp.json Philtrum, Tented http://purl.obolibrary.org/obo/HP_0011825 hposlim_core HP:0011826 biolink:PhenotypicFeature Philtrum with midline raphe Narrow ridge in the midline of the philtral groove. UMLS:C4021118 hp.json Philtrum with midline ridge|Philtrum, midline raphe|Philtrum with central raphe http://purl.obolibrary.org/obo/HP_0011826 hposlim_core HP:0011827 biolink:PhenotypicFeature Malaligned philtral ridges Absence of the usual parallel position of philtral ridges. UMLS:C4021117 hp.json Asymmetric philtral columns|Asymmetric philtral ridges|Philtral Ridges, Malaligned|Malaligned philtral columns http://purl.obolibrary.org/obo/HP_0011827 hposlim_core HP:0011828 biolink:PhenotypicFeature Midline sinus of philtrum Pit in the midline of the philtral groove. UMLS:C4021116 hp.json Central sinus of philtrum|Philtrum, Midline Sinus http://purl.obolibrary.org/obo/HP_0011828 hposlim_core GO:0000041 biolink:BiologicalProcess transition metal ion transport The directed movement of transition metal ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. hp.json transition metal transport http://purl.obolibrary.org/obo/GO_0000041 CHEBI:167114 biolink:ChemicalSubstance 2-hydroxydicarboxylate(2-) Any dicarboxylic acid carrying a hydroxy group on the carbon atom at position alpha to the carboxy group. Major species at pH 7.3. hp.json a 2-hydroxydicarboxylate http://purl.obolibrary.org/obo/CHEBI_167114 2_STAR GO:1905806 biolink:BiologicalProcess regulation of synapse pruning Any process that modulates the frequency, rate or extent of synapse pruning. hp.json regulation of synapse disassembly|regulation of synapse elimination|regulation of synapse clearance|regulation of synapse removal http://purl.obolibrary.org/obo/GO_1905806 goslim_synapse GO:1905807 biolink:BiologicalProcess negative regulation of synapse pruning Any process that stops, prevents or reduces the frequency, rate or extent of synapse pruning. hp.json regulation of synapse elimination|down-regulation of synapse disassembly|regulation of synapse disassembly|down regulation of synapse disassembly|downregulation of synapse disassembly|inhibition of synapse disassembly|regulation of synapse removal|regulation of synapse clearance http://purl.obolibrary.org/obo/GO_1905807 GO:1905808 biolink:BiologicalProcess positive regulation of synapse pruning Any process that activates or increases the frequency, rate or extent of synapse pruning. hp.json regulation of synapse elimination|upregulation of synapse disassembly|regulation of synapse disassembly|up-regulation of synapse disassembly|regulation of synapse clearance|regulation of synapse removal|up regulation of synapse disassembly|activation of synapse disassembly http://purl.obolibrary.org/obo/GO_1905808 GO:1905809 biolink:BiologicalProcess negative regulation of synapse organization Any process that stops, prevents or reduces the frequency, rate or extent of synapse organization. hp.json inhibition of synapse organization and biogenesis|inhibition of synapse organisation|downregulation of synapse morphogenesis|inhibition of synapse development|downregulation of synapse organization|downregulation of synapse development|down-regulation of synapse organisation|negative regulation of synapse organisation|negative regulation of synapse organization and biogenesis|down-regulation of synapse organization and biogenesis|inhibition of synapse morphogenesis|down regulation of synapse organization|inhibition of synapse organization|down regulation of synapse organization and biogenesis|down-regulation of synapse organization|down-regulation of synapse morphogenesis|negative regulation of synapse morphogenesis|down-regulation of synapse development|negative regulation of synapse development|downregulation of synapse organisation|downregulation of synapse organization and biogenesis|down regulation of synapse morphogenesis|down regulation of synapse development|down regulation of synapse organisation http://purl.obolibrary.org/obo/GO_1905809 GO:0051641 biolink:BiologicalProcess cellular localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. hp.json intracellular localization|localization within cell|establishment and maintenance of cellular localization|establishment and maintenance of localization in cell or cell membrane|cellular localisation|single-organism cellular localization|single organism cellular localization http://purl.obolibrary.org/obo/GO_0051641 goslim_pir GO:0051647 biolink:BiologicalProcess nucleus localization Any process in which the nucleus is transported to, and/or maintained in, a specific location within the cell. hp.json nucleus localisation|cell nucleus localization|localization of nucleus|establishment and maintenance of nucleus localization http://purl.obolibrary.org/obo/GO_0051647 GO:0051648 biolink:BiologicalProcess vesicle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. hp.json cytoplasmic vesicle localization|vesicle localisation|establishment and maintenance of vesicle localization http://purl.obolibrary.org/obo/GO_0051648 GO:0051645 biolink:BiologicalProcess Golgi localization Any process in which the Golgi is transported to, and/or maintained in, a specific location within the cell. hp.json Golgi localisation|Golgi apparatus localization|establishment and maintenance of Golgi localization|Golgi body localization http://purl.obolibrary.org/obo/GO_0051645 GO:0051649 biolink:BiologicalProcess establishment of localization in cell Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. hp.json establishment of localisation in cell|establishment of intracellular localization|positioning within cell|establishment of localization within cell|establishment of cellular localization http://purl.obolibrary.org/obo/GO_0051649 GO:0000052 biolink:BiologicalProcess citrulline metabolic process The chemical reactions and pathways involving citrulline, N5-carbamoyl-L-ornithine, an alpha amino acid not found in proteins. hp.json citrulline metabolism http://purl.obolibrary.org/obo/GO_0000052 GO:0051640 biolink:BiologicalProcess organelle localization Any process in which an organelle is transported to, and/or maintained in, a specific location. hp.json establishment and maintenance of organelle localization|organelle localisation http://purl.obolibrary.org/obo/GO_0051640 goslim_pir GO:0002687 biolink:BiologicalProcess positive regulation of leukocyte migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. hp.json positive regulation of immune cell migration|positive regulation of leucocyte migration|up-regulation of leukocyte migration|up regulation of leukocyte migration|activation of leukocyte migration|stimulation of leukocyte migration|upregulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0002687 GO:0002688 biolink:BiologicalProcess regulation of leukocyte chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. hp.json regulation of immune cell chemotaxis|regulation of leucocyte chemotaxis http://purl.obolibrary.org/obo/GO_0002688 GO:0002689 biolink:BiologicalProcess negative regulation of leukocyte chemotaxis Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis. hp.json negative regulation of immune cell chemotaxis|negative regulation of leucocyte chemotaxis|downregulation of leukocyte chemotaxis|down regulation of leukocyte chemotaxis|inhibition of leukocyte chemotaxis|down-regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0002689 GO:0002683 biolink:BiologicalProcess negative regulation of immune system process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. hp.json down-regulation of immune system process|down regulation of immune system process|downregulation of immune system process|inhibition of immune system process http://purl.obolibrary.org/obo/GO_0002683 GO:0002684 biolink:BiologicalProcess positive regulation of immune system process Any process that activates or increases the frequency, rate, or extent of an immune system process. hp.json activation of immune system process|stimulation of immune system process|upregulation of immune system process|up-regulation of immune system process|up regulation of immune system process http://purl.obolibrary.org/obo/GO_0002684 GO:0051656 biolink:BiologicalProcess establishment of organelle localization The directed movement of an organelle to a specific location. hp.json establishment of organelle localisation http://purl.obolibrary.org/obo/GO_0051656 GO:0002685 biolink:BiologicalProcess regulation of leukocyte migration Any process that modulates the frequency, rate, or extent of leukocyte migration. hp.json regulation of immune cell migration|regulation of leucocyte migration http://purl.obolibrary.org/obo/GO_0002685 GO:0002686 biolink:BiologicalProcess negative regulation of leukocyte migration Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration. hp.json inhibition of leukocyte migration|downregulation of leukocyte migration|negative regulation of immune cell migration|negative regulation of leucocyte migration|down-regulation of leukocyte migration|down regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0002686 GO:0002682 biolink:BiologicalProcess regulation of immune system process Any process that modulates the frequency, rate, or extent of an immune system process. hp.json http://purl.obolibrary.org/obo/GO_0002682 GO:1905821 biolink:BiologicalProcess positive regulation of chromosome condensation Any process that activates or increases the frequency, rate or extent of chromosome condensation. hp.json up regulation of eukaryotic chromosome condensation|upregulation of chromosome condensation|up-regulation of nuclear chromosome condensation|activation of eukaryotic chromosome condensation|up-regulation of eukaryotic chromosome condensation|up regulation of nuclear chromosome condensation|activation of nuclear chromosome condensation|positive regulation of nuclear chromosome condensation|up-regulation of chromosome condensation|upregulation of eukaryotic chromosome condensation|up regulation of chromosome condensation|upregulation of nuclear chromosome condensation|activation of chromosome condensation|positive regulation of eukaryotic chromosome condensation http://purl.obolibrary.org/obo/GO_1905821 CHEBI:7044 biolink:ChemicalSubstance myoglobin COMe:PRX000322|KEGG:C05782 hp.json vertebrate myoglobin|Myoglobin http://purl.obolibrary.org/obo/CHEBI_7044 3_STAR GO:0051650 biolink:BiologicalProcess establishment of vesicle localization The directed movement of a vesicle to a specific location. hp.json establishment of vesicle localisation http://purl.obolibrary.org/obo/GO_0051650 goslim_aspergillus GO:0002698 biolink:BiologicalProcess negative regulation of immune effector process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process. hp.json down-regulation of immune effector process|down regulation of immune effector process|inhibition of immune effector process|downregulation of immune effector process http://purl.obolibrary.org/obo/GO_0002698 GO:0000035 biolink:MolecularActivity acyl binding Binding to an acyl group, any group formally derived by removal of the hydroxyl group from the acid function of a carboxylic acid. hp.json acyl-CoA or acyl binding http://purl.obolibrary.org/obo/GO_0000035 GO:0002699 biolink:BiologicalProcess positive regulation of immune effector process Any process that activates or increases the frequency, rate, or extent of an immune effector process. hp.json upregulation of immune effector process|up-regulation of immune effector process|up regulation of immune effector process|activation of immune effector process|stimulation of immune effector process http://purl.obolibrary.org/obo/GO_0002699 GO:0002694 biolink:BiologicalProcess regulation of leukocyte activation Any process that modulates the frequency, rate, or extent of leukocyte activation. hp.json regulation of leucocyte activation|regulation of immune cell activation http://purl.obolibrary.org/obo/GO_0002694 GO:0002695 biolink:BiologicalProcess negative regulation of leukocyte activation Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation. hp.json down regulation of leukocyte activation|inhibition of leukocyte activation|down-regulation of leukocyte activation|negative regulation of leucocyte activation|negative regulation of immune cell activation|downregulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0002695 GO:0002696 biolink:BiologicalProcess positive regulation of leukocyte activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. hp.json positive regulation of immune cell activation|positive regulation of leucocyte activation|upregulation of leukocyte activation|up regulation of leukocyte activation|stimulation of leukocyte activation|up-regulation of leukocyte activation|activation of leukocyte activation http://purl.obolibrary.org/obo/GO_0002696 GO:0051668 biolink:BiologicalProcess localization within membrane Any process in which a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a membrane. hp.json positioning within membrane|localisation within membrane|localization to membrane|establishment and maintenance of localization in membrane|establishment and maintenance of position in membrane http://purl.obolibrary.org/obo/GO_0051668 GO:0002697 biolink:BiologicalProcess regulation of immune effector process Any process that modulates the frequency, rate, or extent of an immune effector process. hp.json http://purl.obolibrary.org/obo/GO_0002697 GO:0002690 biolink:BiologicalProcess positive regulation of leukocyte chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. hp.json positive regulation of leucocyte chemotaxis|positive regulation of immune cell chemotaxis|upregulation of leukocyte chemotaxis|up regulation of leukocyte chemotaxis|stimulation of leukocyte chemotaxis|up-regulation of leukocyte chemotaxis|activation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0002690 CHEBI:157750 biolink:ChemicalSubstance heparan sulfate polyanion A carbohydrate acid derivative anion that is a polyanionic form of heparan sulfate arising from global deprotonation of the carboxy and N-sulfo groups; major species at pH 7.3. hp.json heparan sulfate group http://purl.obolibrary.org/obo/CHEBI_157750 2_STAR GO:1905833 biolink:BiologicalProcess negative regulation of microtubule nucleation Any process that stops, prevents or reduces the frequency, rate or extent of microtubule nucleation. hp.json downregulation of microtubule nucleation|down regulation of microtubule nucleation|inhibition of microtubule nucleation|down-regulation of microtubule nucleation http://purl.obolibrary.org/obo/GO_1905833 PR:000050343 biolink:Protein alkaline phosphatase (human) A protein that is a translation product of any of the following alkaline phosphatase genes in human: ALPG (encoding the germinal form; GCAP), ALPP (encoding the placental form; PLAP), ALPI (encoding the intestinal form; IAP), and ALPL (encoding the tissue non-specific form; TNAP). hp.json fam:hAP http://purl.obolibrary.org/obo/PR_000050343 GO:0000002 biolink:BiologicalProcess mitochondrial genome maintenance The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. hp.json http://purl.obolibrary.org/obo/GO_0000002 GO:0051674 biolink:BiologicalProcess localization of cell Any process in which a cell is transported to, and/or maintained in, a specific location. hp.json establishment and maintenance of localization of cell|establishment and maintenance of cell localization|localisation of cell|cell localization http://purl.obolibrary.org/obo/GO_0051674 OBO:MAXO_0000784 biolink:NamedThing HCG measurement A quantitative measurement of the amount of human chorionic gonadotropin present in urine or serum. hp.json human chorionic gonadotropin measurement http://purl.obolibrary.org/obo/MAXO_0000784 GO:0000003 biolink:BiologicalProcess reproduction The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. Wikipedia:Reproduction hp.json reproductive physiological process http://purl.obolibrary.org/obo/GO_0000003 goslim_plant|goslim_pir|goslim_flybase_ribbon|goslim_chembl|goslim_generic|goslim_agr GO:0061007 biolink:NamedThing hepaticobiliary system process hp.json http://purl.obolibrary.org/obo/GO_0061007 OBO:MAXO_0000787 biolink:NamedThing blood chemistry measurement The determination of the measured concentrations of chemical constituents of the blood by assay in a clinical laboratory. NCIT:C47868 hp.json blood chemistry test http://purl.obolibrary.org/obo/MAXO_0000787 OBO:MAXO_0000788 biolink:NamedThing serum chemistry measurement A quantitative measurement of a particular substance present in a sample of serum. NCIT:C61014 hp.json http://purl.obolibrary.org/obo/MAXO_0000788 OBO:MAXO_0000785 biolink:NamedThing serum HCG measurement A quantitative measurement of the amount of human chorionic gonadotropin present in a sample of serum. NCIT:C73495 hp.json serum HCG pregnancy measurement|serum human chorionic gonadotropin measurement|blood HCG pregancy test http://purl.obolibrary.org/obo/MAXO_0000785 OBO:MAXO_0000786 biolink:NamedThing urine HCG measurement A quantitative measurement of the amount of human chorionic gonadotropin present in a sample of urine. hp.json urine human chorionic gonadotropin measurement|urine HCG pregancy test|urine HCG pregnancy measurement http://purl.obolibrary.org/obo/MAXO_0000786 OBO:MAXO_0000789 biolink:NamedThing urine chemistry measurement A quantitative measurement of a particular substance present in a sample of urine. NCIT:C61044 hp.json http://purl.obolibrary.org/obo/MAXO_0000789 GO:0099612 biolink:BiologicalProcess protein localization to axon A process in which a protein is transported to or maintained in a location within an axon. hp.json http://purl.obolibrary.org/obo/GO_0099612 GO:0002676 biolink:BiologicalProcess regulation of chronic inflammatory response Any process that modulates the frequency, rate, or extent of a chronic inflammatory response. hp.json http://purl.obolibrary.org/obo/GO_0002676 GO:0002677 biolink:BiologicalProcess negative regulation of chronic inflammatory response Any process that stops, prevents, or reduces the frequency, rate, or extent of a chronic inflammatory response. hp.json inhibition of chronic inflammatory response|downregulation of chronic inflammatory response|down-regulation of chronic inflammatory response|down regulation of chronic inflammatory response http://purl.obolibrary.org/obo/GO_0002677 GO:0000011 biolink:BiologicalProcess vacuole inheritance The distribution of vacuoles into daughter cells after mitosis or meiosis, mediated by interactions between vacuoles and the cytoskeleton. hp.json http://purl.obolibrary.org/obo/GO_0000011 GO:0002678 biolink:BiologicalProcess positive regulation of chronic inflammatory response Any process that activates or increases the frequency, rate, or extent of a chronic inflammatory response. hp.json up-regulation of chronic inflammatory response|up regulation of chronic inflammatory response|activation of chronic inflammatory response|stimulation of chronic inflammatory response|upregulation of chronic inflammatory response http://purl.obolibrary.org/obo/GO_0002678 GO:0002679 biolink:BiologicalProcess respiratory burst involved in defense response A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. hp.json http://purl.obolibrary.org/obo/GO_0002679 GO:0000016 biolink:MolecularActivity lactase activity Catalysis of the reaction: lactose + H2O = D-glucose + D-galactose. Reactome:R-HSA-189062|EC:3.2.1.108|RHEA:10076|Reactome:R-HSA-5658001|MetaCyc:LACTASE-RXN hp.json lactose galactohydrolase activity http://purl.obolibrary.org/obo/GO_0000016 GO:0002673 biolink:BiologicalProcess regulation of acute inflammatory response Any process that modulates the frequency, rate, or extent of an acute inflammatory response. hp.json http://purl.obolibrary.org/obo/GO_0002673 GO:0002674 biolink:BiologicalProcess negative regulation of acute inflammatory response Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response. hp.json inhibition of acute inflammatory response|downregulation of acute inflammatory response|down-regulation of acute inflammatory response|down regulation of acute inflammatory response http://purl.obolibrary.org/obo/GO_0002674 GO:0002675 biolink:BiologicalProcess positive regulation of acute inflammatory response Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response. hp.json up-regulation of acute inflammatory response|up regulation of acute inflammatory response|activation of acute inflammatory response|stimulation of acute inflammatory response|upregulation of acute inflammatory response http://purl.obolibrary.org/obo/GO_0002675 GO:0051683 biolink:BiologicalProcess establishment of Golgi localization The directed movement of the Golgi to a specific location. hp.json establishment of Golgi apparatus localization|establishment of Golgi body localization|establishment of Golgi localisation http://purl.obolibrary.org/obo/GO_0051683 OBO:MAXO_0000778 biolink:NamedThing liver function testing The quantitative measurement of liver enzymes in the blood, which is useful in assessing the functional state of a patient's liver. Liver function tests include the measurement of albumin, alanine transaminase, aspartate transaminase, alkaline phosphatase, bilirubin, and gamma glutamyl transferase. NCIT:C74954 hp.json liver function assessment|LFT http://purl.obolibrary.org/obo/MAXO_0000778 GO:1905871 biolink:BiologicalProcess regulation of protein localization to cell leading edge Any process that modulates the frequency, rate or extent of protein localization to cell leading edge. hp.json regulation of protein localisation in cell leading edge|regulation of protein localization in cell leading edge|regulation of protein localisation to cell leading edge http://purl.obolibrary.org/obo/GO_1905871 GO:0048048 biolink:BiologicalProcess embryonic eye morphogenesis The process occurring in the embryo by which the anatomical structures of the post-embryonic eye are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0048048 GO:1905872 biolink:BiologicalProcess negative regulation of protein localization to cell leading edge Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cell leading edge. hp.json inhibition of protein localization in cell leading edge|down-regulation of protein localisation in cell leading edge|downregulation of protein localization in cell leading edge|negative regulation of protein localisation in cell leading edge|inhibition of protein localisation to cell leading edge|downregulation of protein localisation to cell leading edge|down regulation of protein localisation in cell leading edge|down-regulation of protein localization to cell leading edge|inhibition of protein localisation in cell leading edge|down regulation of protein localization to cell leading edge|downregulation of protein localisation in cell leading edge|negative regulation of protein localization in cell leading edge|down-regulation of protein localization in cell leading edge|inhibition of protein localization to cell leading edge|downregulation of protein localization to cell leading edge|negative regulation of protein localisation to cell leading edge|down-regulation of protein localisation to cell leading edge|down regulation of protein localization in cell leading edge|down regulation of protein localisation to cell leading edge http://purl.obolibrary.org/obo/GO_1905872 GO:0061024 biolink:BiologicalProcess membrane organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. hp.json membrane organization and biogenesis|cellular membrane organisation|cellular membrane organization|membrane organisation|single-organism membrane organization http://purl.obolibrary.org/obo/GO_0061024 goslim_generic|prokaryote_subset|goslim_pombe|goslim_pir|goslim_drosophila|goslim_chembl GO:0061025 biolink:BiologicalProcess membrane fusion The membrane organization process that joins two lipid bilayers to form a single membrane. Wikipedia:Lipid_bilayer_fusion hp.json cellular membrane fusion|single-organism membrane fusion http://purl.obolibrary.org/obo/GO_0061025 goslim_yeast OBO:MAXO_0000790 biolink:NamedThing clinical breast examination A systemic evaluation of the breast using visual inspection, palpation, and percussion. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. NCIT:C70552 hp.json examination of breast|clinical breast exam|breast examination|breast exam|physical examination of breast http://purl.obolibrary.org/obo/MAXO_0000790 OBO:MAXO_0000791 biolink:NamedThing breast self-examination Procedure where the individual examines their own breasts for lumps and other changes. NCIT:C70551 hp.json breast self-surveillance|breast self-exam http://purl.obolibrary.org/obo/MAXO_0000791 OBO:MAXO_0000794 biolink:NamedThing fundal height measurement A measurement generally defined as the distance in centimeters from the pubic bone to the top of the uterus to determine fetal growth. NCIT:C154876 hp.json http://purl.obolibrary.org/obo/MAXO_0000794 OBO:MAXO_0000795 biolink:NamedThing uterine size measurement Determination of the uterine size by ultrasound or other measurement. hp.json http://purl.obolibrary.org/obo/MAXO_0000795 OBO:MAXO_0000792 biolink:NamedThing abdominal examination A systemic evaluation of the abdomen using visual inspection, palpation, and percussion. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. NCIT:C167415 hp.json physical examination of abdomen|abdomen exam|examination of the abdomen|examination of abdomen http://purl.obolibrary.org/obo/MAXO_0000792 OBO:MAXO_0000793 biolink:NamedThing pelvic examination A systemic evaluation of the pelvic region of trunk using visual inspection, palpation, and percussion. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. NCIT:C38104 hp.json pelvis examination|examination of pelvic region of trunk|pelvic exam|examination of pelvis|physical examination of pelvic region of trunk|pelvic region of trunk exam http://purl.obolibrary.org/obo/MAXO_0000793 GO:1905880 biolink:BiologicalProcess negative regulation of oogenesis Any process that stops, prevents or reduces the frequency, rate or extent of oogenesis. hp.json down regulation of ovum development|down-regulation of oogenesis|inhibition of ovum development|down-regulation of ovum development|negative regulation of ovum development|down regulation of oogenesis|inhibition of oogenesis|downregulation of oogenesis|downregulation of ovum development http://purl.obolibrary.org/obo/GO_1905880 GO:1905881 biolink:BiologicalProcess positive regulation of oogenesis Any process that activates or increases the frequency, rate or extent of oogenesis. hp.json upregulation of oogenesis|upregulation of ovum development|positive regulation of ovum development|up-regulation of oogenesis|up regulation of ovum development|up regulation of oogenesis|up-regulation of ovum development|activation of oogenesis|activation of ovum development http://purl.obolibrary.org/obo/GO_1905881 GO:1905873 biolink:BiologicalProcess positive regulation of protein localization to cell leading edge Any process that activates or increases the frequency, rate or extent of protein localization to cell leading edge. hp.json activation of protein localization to cell leading edge|up-regulation of protein localization in cell leading edge|upregulation of protein localisation in cell leading edge|up-regulation of protein localisation to cell leading edge|up regulation of protein localization in cell leading edge|upregulation of protein localization to cell leading edge|up regulation of protein localisation to cell leading edge|positive regulation of protein localization in cell leading edge|activation of protein localization in cell leading edge|positive regulation of protein localisation to cell leading edge|activation of protein localisation to cell leading edge|up-regulation of protein localisation in cell leading edge|upregulation of protein localization in cell leading edge|up regulation of protein localisation in cell leading edge|up-regulation of protein localization to cell leading edge|upregulation of protein localisation to cell leading edge|positive regulation of protein localisation in cell leading edge|activation of protein localisation in cell leading edge|up regulation of protein localization to cell leading edge http://purl.obolibrary.org/obo/GO_1905873 GO:1905879 biolink:BiologicalProcess regulation of oogenesis Any process that modulates the frequency, rate or extent of oogenesis. hp.json regulation of ovum development http://purl.obolibrary.org/obo/GO_1905879 OBO:MAXO_0000798 biolink:NamedThing internal fetal heart rate monitoring A technique that utilizes a wire attached to the fetal scalp to monitor fetal heart rate. The wire detects fetal cardiac electrical activity to determine the baseline fetal heart rate and variability. NCIT:C114083 hp.json fetal scalp electrode monitoring|FSE http://purl.obolibrary.org/obo/MAXO_0000798 OBO:MAXO_0000796 biolink:NamedThing fetal heart rate monitoring The act of observing and recording the fetal heart rate for determining the baseline values or other abnormal findings. NCIT:C92929 hp.json fetal heart rate measurement|fetal heart monitoring http://purl.obolibrary.org/obo/MAXO_0000796 OBO:MAXO_0000797 biolink:NamedThing obsolete fetal Doppler monitoring A technique that utilizes a Doppler transducer to monitor fetal heart rate. The transducer is placed on the maternal abdomen and detects fetal cardiac motion using ultrasound. NCIT:C114081 hp.json external fetal heart rate monitoring|EFM|fetal Doppler ultrasound monitoring http://purl.obolibrary.org/obo/MAXO_0000797 HP:0033161 biolink:PhenotypicFeature Abnormal urinary purine level Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines. hp.json http://purl.obolibrary.org/obo/HP_0033161 HP:0033160 biolink:PhenotypicFeature Decreased urinary guanosine level Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. hp.json http://purl.obolibrary.org/obo/HP_0033160 HP:0033163 biolink:PhenotypicFeature Small intestinal bacterial overgrowth An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml. hp.json http://purl.obolibrary.org/obo/HP_0033163 HP:0033162 biolink:PhenotypicFeature Abnormal urinary pyrimidine level Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines. hp.json http://purl.obolibrary.org/obo/HP_0033162 HP:0033169 biolink:PhenotypicFeature Reduced total lung capacity Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration. hp.json Reduced TLC http://purl.obolibrary.org/obo/HP_0033169 HP:0033168 biolink:PhenotypicFeature Reduced mevalonate kinase activity Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids. hp.json http://purl.obolibrary.org/obo/HP_0033168 HP:0033165 biolink:PhenotypicFeature Necrotizing enterocolitis Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. hp.json http://purl.obolibrary.org/obo/HP_0033165 HP:0033164 biolink:PhenotypicFeature Focal active colitis Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. hp.json http://purl.obolibrary.org/obo/HP_0033164 HP:0033167 biolink:PhenotypicFeature Neutrophilic urticarial dermatosis A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present. hp.json http://purl.obolibrary.org/obo/HP_0033167 HP:0033166 biolink:PhenotypicFeature Recurrent viral upper respiratory tract infections An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis). hp.json http://purl.obolibrary.org/obo/HP_0033166 PR:000003964 biolink:Protein intestinal alkaline phosphatase A protein that is a translation product of the human ALPI gene or a 1:1 ortholog thereof. hp.json ALPI|IAP http://purl.obolibrary.org/obo/PR_000003964 PR:000003968 biolink:Protein alkaline phosphatase, tissue-nonspecific isozyme A protein that is a translation product of the human ALPL gene or a 1:1 ortholog thereof. hp.json phosphoamidase|Akp-2|phosphocreatine phosphatase|TNSALP|alkaline phosphatase liver/bone/kidney isozyme|ALPL|AP-TNAP|alkaline phosphatase 2|Akp2 http://purl.obolibrary.org/obo/PR_000003968 GO:0036072 biolink:BiologicalProcess direct ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance, that does not require the replacement of preexisting tissues. hp.json http://purl.obolibrary.org/obo/GO_0036072 GO:0036075 biolink:BiologicalProcess replacement ossification Ossification that requires the replacement of a preexisting tissue prior to bone tissue formation. hp.json indirect ossification http://purl.obolibrary.org/obo/GO_0036075 PR:000001308 biolink:Protein CD48 molecule A protein that is a translation product of the human CD48 gene or a 1:1 ortholog thereof. PANTHER:PTHR12080:SF3|PIRSF:PIRSF001973 hp.json CD48 antigen|SLAMF2|leukocyte antigen MEM-102|BCM1 surface antigen|BLAST1|MRC OX-45 surface antigen|signaling lymphocytic activation molecule 2|HM48-1|SLAM family member 2|BLAST-1|sgp-60|BCM1|B-lymphocyte activation marker BLAST-1|TCT.1|CD48|Bcm-1 http://purl.obolibrary.org/obo/PR_000001308 HP:0008198 biolink:PhenotypicFeature Congenital hypoparathyroidism Deficiency of parathyroid hormone with congenital onset. UMLS:C1455734 hp.json Neonatal hypoparathyroidism http://purl.obolibrary.org/obo/HP_0008198 HP:0008197 biolink:PhenotypicFeature Absence of pubertal development UMLS:C1846228 hp.json http://purl.obolibrary.org/obo/HP_0008197 CHEBI:77974 biolink:ChemicalSubstance food packaging gas A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container. Wikipedia:Packaging_gas hp.json food packaging gases http://purl.obolibrary.org/obo/CHEBI_77974 3_STAR PR:000003969 biolink:Protein alkaline phosphatase, placental type A protein that is a translation product of the human ALPP gene or a 1:1 ortholog thereof. hp.json PLAP|PLAP-1|alkaline phosphatase Regan isozyme|ALPP|placental alkaline phosphatase 1 http://purl.obolibrary.org/obo/PR_000003969 OBO:MAXO_0000745 biolink:NamedThing cytogenetic analysis Techniques for analysis of chromosomal and subchromosomal properties and structures, such as those to diagnose, classify, screen for, or manage genetic diseases and abnormalities. NCIT:C18280 hp.json cytogenetic study|cytogenetic testing http://purl.obolibrary.org/obo/MAXO_0000745 OBO:MAXO_0000746 biolink:NamedThing chromosomal breakage analysis A test to detect chromosomal breakage or aberrations (breaks, gaps, rearrangements, radials, exchanges, endoreduplications) in peripheral blood cells after culture with a T-cell mitogen and a DNA clastogenic (cross-linking) agent, such as diepoxybutane (DEB) or mitomycin C (MMC). hp.json DEB/MMC testing|induced chormosomal breakage testing|Chromosome Breakage Analysis (DEB/MMC)|chromosomal breakage testing http://purl.obolibrary.org/obo/MAXO_0000746 HP:0033172 biolink:PhenotypicFeature Increased triceps skinfold thickness Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased. hp.json http://purl.obolibrary.org/obo/HP_0033172 HP:0033171 biolink:PhenotypicFeature Abnormal triceps skinfold thickness Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. hp.json http://purl.obolibrary.org/obo/HP_0033171 HP:0033174 biolink:PhenotypicFeature Bloody bronchoalveolar lavage fluid Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. hp.json http://purl.obolibrary.org/obo/HP_0033174 CHEBI:75325 biolink:ChemicalSubstance cathartic Any substance that accelerates defecation. Compare with laxatives, which are substances that ease defecation (usually by softening faeces). A substance can be both a laxative and a cathartic. Wikipedia:Cathartic hp.json cathartics http://purl.obolibrary.org/obo/CHEBI_75325 3_STAR HP:0033173 biolink:PhenotypicFeature Milky appearance of bronchoalveolar lavage fluid Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. hp.json http://purl.obolibrary.org/obo/HP_0033173 HP:0033170 biolink:PhenotypicFeature Abnormal skinfold thickness measurement Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. hp.json http://purl.obolibrary.org/obo/HP_0033170 HP:0033179 biolink:PhenotypicFeature Elevated circulating aconitic acid concentration An increased concentration of aconitic acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033179 HP:0033176 biolink:PhenotypicFeature Submandibular lymph node enlargement Increased size of the lymph nodes that are located beneath the mandible (lower jaw). hp.json Submandibular lymphadenopathy http://purl.obolibrary.org/obo/HP_0033176 HP:0033175 biolink:PhenotypicFeature Elevated circulating 5-oxoproline concentration Concentration of L-pyroglutamic acid in the blood is above the normal range. hp.json Elevated circulating L-pyroglutamic acid concentration http://purl.obolibrary.org/obo/HP_0033175 HP:0033178 biolink:PhenotypicFeature Increased circulating interleukin 8 concentration An increased concentration of interleukin-8 in the circulation. hp.json Increased serum interleukin-8|Increased serum IL-8|Increased serum interleukin 8 http://purl.obolibrary.org/obo/HP_0033178 HP:0033177 biolink:PhenotypicFeature Elevated circulating suberic acid concentration An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. hp.json http://purl.obolibrary.org/obo/HP_0033177 PR:000003970 biolink:Protein alkaline phosphatase, germ cell type A protein that is a translation product of the human ALPG gene or a 1:1 ortholog thereof. hp.json placental alkaline phosphatase-like|GCAP|PLAP-like|ALP-1|germ cell alkaline phosphatase|ALPPL|ALPPL2|ALPG|alkaline phosphatase, placental-like|alkaline phosphatase Nagao isozyme http://purl.obolibrary.org/obo/PR_000003970 OBO:MAXO_0000732 biolink:NamedThing occupational therapist evaluation An initial evaluation or assessment by a health professional trained to help people who are ill or disabled learn to manage their daily activities. hp.json evaluation by occupational therapist|OT eval|OT evaluation|occupational therapist management|treatment by OT|occupational therapist assessment|treatment by occupational therapist|OT consult|assessment by occupational therapist|OT treatment|occupational therapist consultation|OT assessment|managed by occupational therapist|occupational therapist treatment http://purl.obolibrary.org/obo/MAXO_0000732 OBO:MAXO_0000733 biolink:NamedThing speech-language pathologist evaluation An initial assessment by a professional who works to prevent, assess, diagnose, and treat speech, language, social communication, congnitive-communication, and swallowing disorders. hp.json speech therapist assessment|evaluation by speech and language therapist|speech-language pathologist examination|speech and language therapist evaluation|consult with speech therapist|speech therapist evaluation|speech-language pathologist assessment|speech therapist consultation|speech/language therapist evaluation|speech and language pathologist evaluation|assessment with speech therapist|speech/language pathologist evaluation http://purl.obolibrary.org/obo/MAXO_0000733 OBO:MAXO_0000731 biolink:NamedThing allied health professional evaluation A procedure where a allied health care provider who was not previously involved in a patient's treatment, reviews a patient's medical history, examines the patient, and makes recommendations as to care and treatment. This is care provided by health care practitioners who are distinct providers from dentistry, nursing, medicine, and pharmacy health care professionals. hp.json allied health practitioner consultation|allied health clnicians support|assessment by allied health professional|consulationat with allied health professional|support by allied health clinicians|consultation with allied health practitioner|allied health professional consultation|allied health practitioner evaluation|evaluation by allied health professional|evaluation managed by allied health professional http://purl.obolibrary.org/obo/MAXO_0000731 GO:0036065 biolink:BiologicalProcess fucosylation The covalent attachment of a fucosyl group to an acceptor molecule. hp.json http://purl.obolibrary.org/obo/GO_0036065 GO:0036066 biolink:BiologicalProcess protein O-linked fucosylation The process of transferring a fucosyl group to a serine or threonine residues in a protein acceptor molecule, to form an O-linked protein-sugar linkage. hp.json http://purl.obolibrary.org/obo/GO_0036066 OBO:MAXO_0000734 biolink:NamedThing audiologist evaluation A first assessment by a trained non-medical health professional who specializes in the identification, testing, habilitation and rehabilitation of hearing loss and other auditory and balance disorders. Particularly, an audiologist may be involved in diagnostic and screening procedures to determine hearing deficits, as well as in assessment of amplification devices and instruction in their care, training in speechreading, and may serve as consultant to government and industry on issues concerning environmental, noise-induced hearing loss. NCIT:C51804 hp.json audiologic evaluation|audiology evaluation|assessment by audiologist|audilogic assessment|audiology examination|treatment by audiologist|evaluation by audiologist http://purl.obolibrary.org/obo/MAXO_0000734 HP:0033183 biolink:PhenotypicFeature Bilobed right lung A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. hp.json http://purl.obolibrary.org/obo/HP_0033183 HP:0008182 biolink:PhenotypicFeature Adrenocortical hypoplasia UMLS:C4024719 hp.json Small adrenal cortex http://purl.obolibrary.org/obo/HP_0008182 HP:0033182 biolink:PhenotypicFeature Increased circulating cathepsin D level An increase in concentration of cathepsin D in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033182 HP:0008185 biolink:PhenotypicFeature Precocious puberty in males The onset of puberty before the age of 9 years in boys. UMLS:C1859979 hp.json Male precocious puberty|Early onset of puberty in males http://purl.obolibrary.org/obo/HP_0008185 HP:0033185 biolink:PhenotypicFeature Triggered by EBV infection Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus. hp.json Triggered by Epstein Barr virus infection http://purl.obolibrary.org/obo/HP_0033185 HP:0033184 biolink:PhenotypicFeature Triggered by infection hp.json http://purl.obolibrary.org/obo/HP_0033184 HP:0033181 biolink:PhenotypicFeature Spinal epidural abscess Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA. hp.json A severe pyogenic infection of the epidural space http://purl.obolibrary.org/obo/HP_0033181 HP:0008181 biolink:PhenotypicFeature Abetalipoproteinemia An absence of low-density lipoprotein cholesterol in the blood. UMLS:C0000744|MSH:D000012|SNOMEDCT_US:190787008 hp.json http://purl.obolibrary.org/obo/HP_0008181 HP:0008180 biolink:PhenotypicFeature Mildly elevated creatine kinase UMLS:C1850309 hp.json Mildly elevated CPK|Mildly elevated serum phospho-CK|Mildly increased creatine kinase|Mildly elevated serum CK|Moderately elevated serum CK|Mildly elevated creatine phosphokinase|Moderately elevated serum CPK|Mildly elevated serum CPK|Moderately increased serum creatine kinase|Mildly increased serum creatine kinase http://purl.obolibrary.org/obo/HP_0008180 HP:0033180 biolink:PhenotypicFeature Torsion of appendix of testis The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention. hp.json Twisted vestigial remnant of the Muellerian duct http://purl.obolibrary.org/obo/HP_0033180 HP:0033187 biolink:PhenotypicFeature Hyperimidodipeptiduria Elevated levels of proline-containing dipeptides in urine. hp.json Imidodipeptiduria http://purl.obolibrary.org/obo/HP_0033187 HP:0033186 biolink:PhenotypicFeature Misalignment of the pulmonary veins The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins. hp.json http://purl.obolibrary.org/obo/HP_0033186 HP:0033189 biolink:PhenotypicFeature Radiculomegaly Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length. hp.json Rhizomegaly|Root gigantism|Long dental root http://purl.obolibrary.org/obo/HP_0033189 CHEBI:63353 biolink:ChemicalSubstance disaccharide derivative A carbohydrate derivative that is formally obtained from a disaccharide. hp.json disaccharide derivatives http://purl.obolibrary.org/obo/CHEBI_63353 3_STAR HP:0033188 biolink:PhenotypicFeature Cystic acne A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum. hp.json http://purl.obolibrary.org/obo/HP_0033188 HP:0008179 biolink:PhenotypicFeature Decreased Arden ratio of electrooculogram An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. UMLS:C4024720 hp.json Decreased Arden ratio of EOG http://purl.obolibrary.org/obo/HP_0008179 HP:0008176 biolink:PhenotypicFeature Neonatal unconjugated hyperbilirubinemia SNOMEDCT_US:281611002|UMLS:C0559506 hp.json http://purl.obolibrary.org/obo/HP_0008176 HP:0008178 biolink:PhenotypicFeature Abnormal cartilage matrix UMLS:C4024721 hp.json http://purl.obolibrary.org/obo/HP_0008178 HP:0008194 biolink:PhenotypicFeature Multiple pancreatic beta-cell adenomas The presence of multiple pancreatic islet cell adenomas. UMLS:C4024718 hp.json http://purl.obolibrary.org/obo/HP_0008194 HP:0033194 biolink:PhenotypicFeature Perioral erythema Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth. hp.json http://purl.obolibrary.org/obo/HP_0033194 HP:0008193 biolink:PhenotypicFeature Primary gonadal insufficiency UMLS:C1859014 hp.json http://purl.obolibrary.org/obo/HP_0008193 HP:0033193 biolink:PhenotypicFeature Ballooning hepatocyte degeneration Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. hp.json Ballooning degeneration of hepatocytes http://purl.obolibrary.org/obo/HP_0033193 HP:0033196 biolink:PhenotypicFeature Portal inflammation Infiltration of portal fields by inflammatory cells. hp.json Hepatic portal inflammation http://purl.obolibrary.org/obo/HP_0033196 HP:0033195 biolink:PhenotypicFeature Perianal erythema Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus. hp.json http://purl.obolibrary.org/obo/HP_0033195 HP:0033190 biolink:PhenotypicFeature Hypertrichotic hyperpigmented patch A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth. hp.json Cutaneous hyperpigmentation with overlying hypertrichosis http://purl.obolibrary.org/obo/HP_0033190 OBO:MAXO_0000751 biolink:NamedThing clinical surveilance The systematic collection, analysis, and interpretation of health data on an ongoing basis. NCIT:C15719 hp.json http://purl.obolibrary.org/obo/MAXO_0000751 HP:0033192 biolink:PhenotypicFeature Decreased circulating selenium concentration An abnormally reduced concentration of selenium in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033192 HP:0008191 biolink:PhenotypicFeature Thyroid agenesis The congenital absence of the thyroid gland. UMLS:C0749420|UMLS:C4020805|MSH:D050033 hp.json Athyroidal hypothyroidism http://purl.obolibrary.org/obo/HP_0008191 HP:0033191 biolink:PhenotypicFeature Increased circulating selenium concentration An increased concentration of selenium in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033191 CHEBI:63367 biolink:ChemicalSubstance monosaccharide derivative A carbohydrate derivative that is formally obtained from a monosaccharide. hp.json monosaccharide derivatives http://purl.obolibrary.org/obo/CHEBI_63367 3_STAR HP:0033198 biolink:PhenotypicFeature Triggered by viral infection Applies to a sign or symptom that is provoked or brought about by infection by a virus. hp.json http://purl.obolibrary.org/obo/HP_0033198 HP:0033197 biolink:PhenotypicFeature Hepatic lobular inflammation Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes). hp.json http://purl.obolibrary.org/obo/HP_0033197 HP:0033199 biolink:PhenotypicFeature Increased circulating interleukin 10 concentration An elevation of the concentration of interleukin 10 in the blood circulation. hp.json Increased serum interleukin 10 http://purl.obolibrary.org/obo/HP_0033199 OBO:MAXO_0000754 biolink:NamedThing cellularity measurement The determination of the amount of degree, quality or condition of cells present in a sample. NCIT:C111153 hp.json cellularity indexing|cellularity grade measurement http://purl.obolibrary.org/obo/MAXO_0000754 OBO:MAXO_0000755 biolink:NamedThing liquid biopsy The sampling and analysis of non-solid biological tissue often through rapid and non-invasive methods, which allows the assessment in real-time of the evolving landscape of cancer. hp.json solid tumor monitoring http://purl.obolibrary.org/obo/MAXO_0000755 OBO:MAXO_0000752 biolink:NamedThing bone marrow aspiration Removal of a small amount of liquid bone marrow through a needle. hp.json bone marrow aspiration procedure http://purl.obolibrary.org/obo/MAXO_0000752 OBO:MAXO_0000753 biolink:NamedThing bone marrow examination The pathologic analysis of samples of bone marrow obtained by bone marrow biopsy and bone marrow aspiration. hp.json bone marrow testing|bone marrow monitoring http://purl.obolibrary.org/obo/MAXO_0000753 HP:0008187 biolink:PhenotypicFeature Absence of secondary sex characteristics No secondary sexual characteristics are present at puberty. UMLS:C4021551 hp.json No secondary sexual characteristics at puberty http://purl.obolibrary.org/obo/HP_0008187 HP:0008186 biolink:PhenotypicFeature Adrenocortical cytomegaly The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. UMLS:C1851720 hp.json http://purl.obolibrary.org/obo/HP_0008186 HP:0008189 biolink:PhenotypicFeature Insulin insensitivity Decreased sensitivity toward insulin. UMLS:C1864570 hp.json http://purl.obolibrary.org/obo/HP_0008189 HP:0008188 biolink:PhenotypicFeature Thyroid dysgenesis UMLS:C1563716|MSH:D050033 hp.json Thyroid dysplasia http://purl.obolibrary.org/obo/HP_0008188 HP:0033125 biolink:PhenotypicFeature Follicular lymphoma An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement. hp.json http://purl.obolibrary.org/obo/HP_0033125 HP:0033124 biolink:PhenotypicFeature Increased serum sorbitol concentration An increased level of sorbitol in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033124 HP:0033127 biolink:PhenotypicFeature Abnormality of the musculoskeletal system An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. hp.json http://purl.obolibrary.org/obo/HP_0033127 HP:0033126 biolink:PhenotypicFeature Cutaneous necrosis Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin. hp.json Skin necrosis http://purl.obolibrary.org/obo/HP_0033126 HP:0033121 biolink:PhenotypicFeature Barking cough A cough with a characteristic sound that has been compared to a seal's bark. hp.json Seal-like barking cough http://purl.obolibrary.org/obo/HP_0033121 HP:0033120 biolink:PhenotypicFeature Nummular eczema A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet hp.json Discoid eczema|Nummular dermatitis http://purl.obolibrary.org/obo/HP_0033120 HP:0033123 biolink:PhenotypicFeature Elevated circulating osteopontin level Abnormally increased level of osteopontin in the blood circulation hp.json http://purl.obolibrary.org/obo/HP_0033123 HP:0033122 biolink:PhenotypicFeature Absent P wave The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present. hp.json Absence of P wave on electrocardiography http://purl.obolibrary.org/obo/HP_0033122 GO:0036035 biolink:BiologicalProcess osteoclast development The process whose specific outcome is the progression of a osteoclast from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. hp.json osteoclast cell development http://purl.obolibrary.org/obo/GO_0036035 OBO:MAXO_0000707 biolink:NamedThing pediatrician evaluation An assessment by a specialist concerned with the physical, emotional, and social health of children from birth to young adulthood. hp.json evaluation by pediatrician|pediatrician consultation http://purl.obolibrary.org/obo/MAXO_0000707 OBO:MAXO_0000705 biolink:NamedThing hand surgeon evaluation An assessment by a specialist with expertise in the surgical, medical and rehabilitative care of patients with diseases, injuries, and disorders affecting the hand, wrist and forearm. hp.json hand surgeon consultation|referral to orthopedic hand surgeon|consultation with orthopedic hand surgeon|consultation with hand surgeon|referral to hand surgeon http://purl.obolibrary.org/obo/MAXO_0000705 OBO:MAXO_0000706 biolink:NamedThing otolaryngologist evaluation An assessment by a specialist who provides medical and/or surgical therapy or prevention of diseases, allergies, neoplasms, deformities, disorders and/or injuries of the ears, nose, sinuses, throat, respiratory and upper alimentary systems, face, jaws and the other head and neck systems. hp.json otolaryngology specialist consultation|evaluation by otolaryngologist|consultation by otolaryngology specialist|consultation with otolaryngologist|head and neck surgeon referral|referral to otolaryngologist|otolaryngologist referral|head and neck surgeon evaluation|head and neck surgeon consultation|referral to head and neck surgeon|otolaryngologist consultation|consultation with head and neck surgeon|otolaryngology specialist referral|otolaryngology specialist evaluation http://purl.obolibrary.org/obo/MAXO_0000706 HP:0033129 biolink:PhenotypicFeature Abnormal shoulder physiology Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm. hp.json http://purl.obolibrary.org/obo/HP_0033129 HP:0033128 biolink:PhenotypicFeature Delayed ability to crawl A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months. hp.json http://purl.obolibrary.org/obo/HP_0033128 OBO:MAXO_0000709 biolink:NamedThing developmental-behavior pediatrician evaluation An evaluation with a specialist who possesses special skills, training and experience to foster understanding and promotion of optimal development of children and families through research, education, clinical care and advocacy efforts. This physician assists in the prevention, diagnosis and management of developmental difficulties and problematic behaviors in children and in the family dysfunctions that compromise children’s development. hp.json referral to developmental-behavior pediatrician|developmental-behavior pediatrician consultation|consultation with developmental-behavior pediatrician|developmental-behavior pediatrician referral http://purl.obolibrary.org/obo/MAXO_0000709 PR:000001345 biolink:Protein endoglin A protein that is a translation product of the human ENG gene or a 1:1 ortholog thereof. PIRSF:PIRSF038746|IUPHARobj:2895 hp.json CD105|END|ENG|Edg|cell surface MJ7/18 antigen http://purl.obolibrary.org/obo/PR_000001345 OBO:MAXO_0000700 biolink:NamedThing neurological surgery specialist evaluation An assessment by this specialist provides care for adult and pediatric patients in the treatment of pain or pathological processes that may modify the function or activity of the central nervous system (e.g., brain, hypophysis, and spinal cord), the peripheral nervous system (e.g., cranial, spinal, and peripheral nerves), the autonomic nervous system, the supporting structures of these systems (e.g., meninges, skull & skull base, and vertebral column), and their vascular supply (e.g., intracranial, extracranial, and spinal vasculature). NCIT:C17722 hp.json neurosurgeon evaluation|neurosurgeon consultation|consultation with neurosurgeon|referral to neurosurgeon|neurological surgeon evaluation|neurological surgeon consultation|consultation with neurological surgeon|neurological surgery specialist consultation|consultation with neurological surgery specialist http://purl.obolibrary.org/obo/MAXO_0000700 OBO:MAXO_0000703 biolink:NamedThing ophthalmologist evaluation An evaluation by a specialist focused on the medical and surgical care of the eyes. Ophthalmologists are the only physicians medically trained to manage the complete range of the eye and vision care. They can prescribe glasses and contact lenses, dispense medications, diagnose and treat eye conditions and diseases and perform surgeries. hp.json referral to ophthalmologist|ophthalmologist consultation|consultation with ophthalmologist|ophthalmology specialist evaluation|referral to ophthalmology specialist|ophthalmology specialist consultation|referral to optometrist|ophthalmologist referral http://purl.obolibrary.org/obo/MAXO_0000703 OBO:MAXO_0000704 biolink:NamedThing sports medicine orthopedist evaluation An evaluation by a specialist who has expertise in the surgical and medical care for all structures of the musculoskeletal system directly affected by participation in sporting activity. This specialist is proficient in areas including conditioning, training and fitness, athletic performance and the impact of dietary supplements, pharmaceuticals, and nutrition on performance and health, coordination of care within the team setting utilizing other health care professionals, field evaluation and management, soft tissue biomechanics and injury healing and repair. Knowledge and understanding of the principles and techniques of rehabilitation, athletic equipment and orthotic devices enables the specialist to prevent and manage athletic injuries. hp.json referral to sports medicine orthopedist|sports medicine orthopedist consultation|sports medicine orthopedic surgeon evaluation|consultation with sports medicine orthopedic surgeon|sports medicine orthopedic surgeon consultation|referral to sports medicine orthopedic surgeon|sports medicine orthopedist referral http://purl.obolibrary.org/obo/MAXO_0000704 OBO:MAXO_0000701 biolink:NamedThing nuclear medicine specialist evaluation An evaluation by a specialist that uses molecular tracers (usually labeled with radioactive atoms) for diagnosis and therapy. hp.json referral to nuclear medicine specialist|consultation with nuclear medicine specialist|nuclear medicine specialist consultation http://purl.obolibrary.org/obo/MAXO_0000701 OBO:MAXO_0000702 biolink:NamedThing obstetrics and gynecology specialist evaluation An evaluation with a specialist who focuses on the health of women before, during and after childbearing years, diagnosing and treating conditions of the reproductive system and associated disorders. hp.json consultation with obstetrics and gynecology specialist|OB/GYN specialist evaluation|obstetrics/gynecology specialist evaluation|consultation OB/GYN specialist|OB/GYN specialist consultation|obstetrics/gynecology specialist consultation|consultation obstetrician/gynecologist|obstetrics and gynecology specialist consultation|obstetrician/gynecologist evaluation|referral to OB/GYN specialist|obstetrician/gynecologist consultation http://purl.obolibrary.org/obo/MAXO_0000702 HP:0033130 biolink:PhenotypicFeature Abnormal renal echogenicity Anomalous echogenicity of the kidney on ultrasound examination. hp.json http://purl.obolibrary.org/obo/HP_0033130 GO:0051607 biolink:BiologicalProcess defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism. hp.json antiviral response|defence response to virus|defense response to viruses http://purl.obolibrary.org/obo/GO_0051607 HP:0033136 biolink:PhenotypicFeature Lymph node abscess An inflammed lymph node that is filled with pus. hp.json http://purl.obolibrary.org/obo/HP_0033136 HP:0033135 biolink:PhenotypicFeature Hepatic infarction Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography. hp.json http://purl.obolibrary.org/obo/HP_0033135 HP:0033138 biolink:PhenotypicFeature Right atrial thrombus A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart. hp.json http://purl.obolibrary.org/obo/HP_0033138 GO:0051606 biolink:BiologicalProcess detection of stimulus The series of events in which a stimulus is received by a cell or organism and converted into a molecular signal. hp.json stimulus sensing|stimulus detection|perception of stimulus http://purl.obolibrary.org/obo/GO_0051606 goslim_pir HP:0033137 biolink:PhenotypicFeature Abnormal pulmonary alveolar system morphology A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli. hp.json http://purl.obolibrary.org/obo/HP_0033137 HP:0033132 biolink:PhenotypicFeature Renal cortical hyperechogenicity Increased echogenecity of the kidney cortex. hp.json http://purl.obolibrary.org/obo/HP_0033132 GO:0000096 biolink:BiologicalProcess sulfur amino acid metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. hp.json sulfur amino acid metabolism|sulphur amino acid metabolic process|sulphur amino acid metabolism http://purl.obolibrary.org/obo/GO_0000096 HP:0033131 biolink:PhenotypicFeature Renal medullary hyperechogenicity Increased echogenecity of the medullary region of the kidney. hp.json Increased renal medullary echogenicity http://purl.obolibrary.org/obo/HP_0033131 HP:0033134 biolink:PhenotypicFeature Abdominal adhesions Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane). hp.json Intra-abdominal adhesion http://purl.obolibrary.org/obo/HP_0033134 HP:0033133 biolink:PhenotypicFeature Renal cortical hypoechogeneity hp.json Hypoechogenic renal cortex http://purl.obolibrary.org/obo/HP_0033133 PR:000001355 biolink:Protein immunoglobulin gamma Fc receptor II/III/IV A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. PIRSF:PIRSF001980 hp.json http://purl.obolibrary.org/obo/PR_000001355 HP:0033139 biolink:PhenotypicFeature Elevated circulating uracil concentration Concentration of uracil in the blood circulation is above the normal range. hp.json http://purl.obolibrary.org/obo/HP_0033139 HP:0033141 biolink:PhenotypicFeature Severe SARS-CoV-2 infection Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation. hp.json http://purl.obolibrary.org/obo/HP_0033141 HP:0033140 biolink:PhenotypicFeature Blake's pouch cyst The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna. hp.json http://purl.obolibrary.org/obo/HP_0033140 UBERON:5001466 biolink:AnatomicalEntity pedal digit plus metapodial segment A subdivision of the autopod consisting of pedal digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json pedal digit digitopodial subdivision|pedal digit ( phalanges plus metapodial) plus soft tissue|pedal digit ray|pedal digit http://purl.obolibrary.org/obo/UBERON_5001466 HP:0033147 biolink:PhenotypicFeature Abnormal circulating short-chain fatty-acid concentration Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033147 HP:0033146 biolink:PhenotypicFeature Elevated circulating methylsuccinic acid concentration Increased concentration of methylsuccinic acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033146 HP:0033149 biolink:PhenotypicFeature Intrahepatic bile duct dilatation Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). hp.json Dilatation of intrahepatic biliary ducts http://purl.obolibrary.org/obo/HP_0033149 CHEBI:63394 biolink:ChemicalSubstance ketoaldonic acid derivative A monosaccharide derivative that is formally obtained from a ketoaldonic acid. hp.json ketoaldonic acid derivatives http://purl.obolibrary.org/obo/CHEBI_63394 3_STAR HP:0033148 biolink:PhenotypicFeature Increased circulating isovaleric acid concentration Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration. hp.json Isovalericacidemia|Increased circulating isovalerate http://purl.obolibrary.org/obo/HP_0033148 HP:0033143 biolink:PhenotypicFeature Jejunitis Inflammation of the lining of the middle section of the small intestine. hp.json http://purl.obolibrary.org/obo/HP_0033143 HP:0033142 biolink:PhenotypicFeature Long nasal bridge Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. hp.json http://purl.obolibrary.org/obo/HP_0033142 HP:0033145 biolink:PhenotypicFeature Increased circulating ceruloplasmin concentration Elevated concentration of ceruloplasmin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033145 HP:0033144 biolink:PhenotypicFeature Abnormal circulating ceruloplasmin concentration Any deviation of the concentration of ceruloplasmin in the blood from the normal range. hp.json http://purl.obolibrary.org/obo/HP_0033144 OBO:MAXO_0000729 biolink:NamedThing transrectal ultrasonography A procedure that uses sound waves to create a video image of the pelvic organs and tissues. A small, lubricated probe placed into the rectum releases sound waves, which create echoes as they enter a pelvic organ. The echoes that bounce back are sent to a computer that translates the pattern of echoes into a picture of the specific organ under examination. This procedure is most often used to evaluate the prostate gland. NCIT:C18315 hp.json medical transrectal ultrasound|endorectal ultrsonography|TRUS|ERUS|diagnostic transrectal ultrasound|endorectal sonography|transrectal sonography|endorectal ultrasound|transrectal ultrasound examination|transrectal ultrasound http://purl.obolibrary.org/obo/MAXO_0000729 OBO:MAXO_0000727 biolink:NamedThing intravascular ultrasonography An invasive procedure in which sound waves (called ultrasound) are bounced off of vascular tissues from within the vessel and the echoes produce a picture (sonogram). NCIT:C99535 hp.json IVUS|intravascular sonography|medical intravascular ultrasonography|intravascular ultrasound|diagnostic intravascular ultrasound http://purl.obolibrary.org/obo/MAXO_0000727 OBO:MAXO_0000728 biolink:NamedThing transvaginal ultrasonography A technique in which sound waves are sent out by an ultrasound probe that has been inserted in the vagina and a computer uses the ultrasound echoes to create an image of the female genital tract. The test can be performed to evaluate women with infertility problems, abnormal bleeding, sources of unexplained pain, congenital malformations of the uterus and ovaries, and possible tumors and infection. NCIT:C17644 hp.json diagnostic transvaginal ultrasound|medical transvaginal sonography|transvaginal sonography|transvaginal ultrasound examination|transvaginal ultrasound|TVU|TVS http://purl.obolibrary.org/obo/MAXO_0000728 OBO:MAXO_0000721 biolink:NamedThing thoracic and cardiac surgeon evaluation Evaluation by a specialist who focuses on the operative, perioperative, and surgical critical care of patients with acquired and congenital pathologic conditions within the chest. hp.json thoracic and cardiac surgeon consultation|evaluation by thoracic and cardiac surgeon|evaluation by thoracic surgeon|consultation with thoracic and cardiac surgeon|referral to thoracic and cardiac surgeon|consultation with thoracic surgeon|referral to thoracic surgeon|thoracic surgeon assessment|thoracic and cardiac surgeon assessment|assessment by thoracic and cardiac surgeon|thoracic surgeon referral|thoracic surgeon evaluation|assessment by thoracic surgeon|thoracic and cardiac surgeon referral http://purl.obolibrary.org/obo/MAXO_0000721 OBO:MAXO_0000722 biolink:NamedThing urologist evaluation An evaluation by a specialist that focuses on diagnosing and treating disorders of the urinary tracts of males and females, and on the reproductive system of males. This specialist manages non-surgical problems such as urinary tract infections and benign prostatic hyperplasia, as well as surgical problems such as the surgical management of cancers, the correction of congenital abnormalities, and correcting stress incontinence. hp.json referral to urologist|urologist referral|consultation with urologist|assessment by genitourinary surgeon|evaluation by urologist|urologist consultation|referral to genitourinary surgeon|genitourinary surgeon evaluation|assessment by urologist|consultation with genitourinary surgeon|genitourinary surgeon consultation|urologist assessment|evaluation by genitourinary surgeon http://purl.obolibrary.org/obo/MAXO_0000722 OBO:MAXO_0000720 biolink:NamedThing vascular surgeon evaluation An evaluation by a specialist who performs preoperative, operative, and postoperative management of patients with disorders of the arterial, venous and lymphatic systems, excluding vessels of the brain and the heart. hp.json referral by vascular surgeon|evaluation by vascular surgeon|vascular surgeon assessment|vascular surgeon referral|assessment by vascular surgeon|vascular surgeon consultation http://purl.obolibrary.org/obo/MAXO_0000720 PR:000001327 biolink:Protein cadherin A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. PIRSF:PIRSF002504 hp.json http://purl.obolibrary.org/obo/PR_000001327 OBO:MAXO_0000725 biolink:NamedThing surgeon evaluation Assessment by a specialist who has expertise in the diagnosis and preoperative, operative, and postoperative management of patient care. hp.json http://purl.obolibrary.org/obo/MAXO_0000725 OBO:MAXO_0000726 biolink:NamedThing hysterosonography A procedure, also known as sonohysterography or saline infusion sonography, using a minimally invasive ultrasound technique to view the inside of the uterus. Sterile saline is injected into the endometrial cavity thereby distending the endometrial cavity, providing good visualization of the anatomic structures within. NCIT:C38066 hp.json medical hysterosonography|saline infusion sonography|diagnostic hysterosonography|sonohysterography http://purl.obolibrary.org/obo/MAXO_0000726 OBO:MAXO_0000723 biolink:NamedThing psychiatry and neurology specialist evaluation Evaluation by a physician who specializes in the evaluation and treatment of of the brain. hp.json http://purl.obolibrary.org/obo/MAXO_0000723 GO:0051621 biolink:BiologicalProcess regulation of norepinephrine uptake Any process that modulates the frequency, rate or extent of the directed movement of the neurotransmitter norepinephrine into a cell. hp.json regulation of noradrenaline uptake|regulation of levarterenol uptake|regulation of norepinephrine import http://purl.obolibrary.org/obo/GO_0051621 HP:0033150 biolink:PhenotypicFeature Anorectal abscess An abscess located at the junction of the anal canal and the rectum. hp.json http://purl.obolibrary.org/obo/HP_0033150 GO:0051622 biolink:BiologicalProcess negative regulation of norepinephrine uptake Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of norepinephrine into a cell. hp.json negative regulation of levarterenol uptake|down-regulation of norepinephrine uptake|negative regulation of norepinephrine import|down regulation of norepinephrine uptake|downregulation of norepinephrine uptake|negative regulation of noradrenaline uptake http://purl.obolibrary.org/obo/GO_0051622 HP:0033152 biolink:PhenotypicFeature Abnormal pharynx physiology A functional anomaly of the pharynx. hp.json http://purl.obolibrary.org/obo/HP_0033152 HP:0033151 biolink:PhenotypicFeature Abnormal pharynx morphology A structural anomaly of the pharynx. hp.json http://purl.obolibrary.org/obo/HP_0033151 GO:0051620 biolink:BiologicalProcess norepinephrine uptake The directed movement of norepinephrine into a cell, typically presynaptic neurons or glial cells. Norepinephrine (3,4-dihydroxyphenyl-2-aminoethanol) is a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine. hp.json norepinephrine reuptake|levarterenol uptake|noradrenaline reuptake|norepinephrine import|noradrenaline uptake|levarterenol reuptake http://purl.obolibrary.org/obo/GO_0051620 GO:0051623 biolink:BiologicalProcess positive regulation of norepinephrine uptake Any process that activates or increases the frequency, rate or extent of the directed movement of norepinephrine into a cell. hp.json positive regulation of norepinephrine import|stimulation of norepinephrine uptake|upregulation of norepinephrine uptake|up-regulation of norepinephrine uptake|up regulation of norepinephrine uptake|positive regulation of levarterenol uptake|activation of norepinephrine uptake|positive regulation of noradrenaline uptake http://purl.obolibrary.org/obo/GO_0051623 HP:0033158 biolink:PhenotypicFeature Reduced respiratory ciliary beating frequency An abnormal reduction in the number of beats per unit time of the respiratory cilia. hp.json Dminished respiratory ciliary beat frequency http://purl.obolibrary.org/obo/HP_0033158 HP:0033157 biolink:PhenotypicFeature Elevated circulating 3-methylhistidine concentration Abnormal increase of the concentration of 3-methylhistidine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033157 GO:0000070 biolink:BiologicalProcess mitotic sister chromatid segregation The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. hp.json mitotic sister-chromatid adhesion release|mitotic chromosome segregation http://purl.obolibrary.org/obo/GO_0000070 goslim_pombe HP:0033159 biolink:PhenotypicFeature Reduced urinary inosine level Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. hp.json http://purl.obolibrary.org/obo/HP_0033159 HP:0033154 biolink:PhenotypicFeature Elevated circulating deoxypyridinoline concentration An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033154 HP:0033153 biolink:PhenotypicFeature Elevated circulating dodecenoylcarnitine concentration An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation. hp.json Elevated plasma dodecenoylcarnitine concentration http://purl.obolibrary.org/obo/HP_0033153 HP:0033156 biolink:PhenotypicFeature Elevated urine L-alloisoleucine level Abnormally increased level of L-alloisoleucine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033156 HP:0033155 biolink:PhenotypicFeature Elevated circulating L-alloisoleucine concentration Abnormally increased concentration of L-alloisoleucine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033155 OBO:MAXO_0000718 biolink:NamedThing radiologist evaluation Evaluation by a specialist who uses imaging methodologies to diagnose and manage patients and provide therapeutic options. hp.json evaluation by radiologist|assessment by radiologist|radiologist assessment http://purl.obolibrary.org/obo/MAXO_0000718 OBO:MAXO_0000719 biolink:NamedThing general surgeon evaluation Evaluation by an expert in the diagnosis and care of patients with diseases and disorders affecting the abdomen, digestive tract, endocrine system, breast, skin and blood vessels. A general surgeon is also trained in the treatment of patients who are injured or critically ill, and in the care of pediatric and cancer patients. General surgeons are skilled in the use of minimally invasive techniques and endoscopies. hp.json assessment by general surgeon|general surgeon evaluation|general surgeon consultation|consultation with general surgeon|evaluation by general surgeon|general surgeon assessment http://purl.obolibrary.org/obo/MAXO_0000719 OBO:MAXO_0000716 biolink:NamedThing neurologist evaluation An evaluation a specialist who treats all types of disease or impaired function of the brain, spinal cord, peripheral nerves, muscles and autonomic nervous system, as well as the blood vessels that relate to these structures. hp.json neurologist consultation|neurologist assessment|referral to neurologist|consultation with neurologist|neurologist referral http://purl.obolibrary.org/obo/MAXO_0000716 OBO:MAXO_0000717 biolink:NamedThing child neurologist evaluation Evaluation with a specialist who diagnose and treat all types of disease or impaired function of the brain, spinal cord, peripheral nerves, muscles and autonomic nervous system, as well as the blood vessels that relate to these structures in infants, children, and adolescents. They also have special competence in genetic and metabolic problems, malformation, retardation and other neurodevelopmental problems of childhood. hp.json pediatric neurologist evaluation|child neurologist consultation|referral to child neurologist|consultation with child neurologist|pediatric neurologist consultation|evaluation by child neurologist|assessment by pediatric neurologist|child neurologist assessment|pediatric neurologist assessment|referral to pediatric neurologist|consultation with pediatric neurologist http://purl.obolibrary.org/obo/MAXO_0000717 PR:000001332 biolink:Protein carcinoembryonic antigen-related cell adhesion molecule 8 A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. hp.json CEACAM8|CGM6|non-specific cross-reacting antigen NCA-95|CD66b|CD67 antigen|carcinoembryonic antigen CGM6 http://purl.obolibrary.org/obo/PR_000001332 OBO:MAXO_0000710 biolink:NamedThing pediatric endocrinologist evalutation An evaluation by a specialist who provides expert care to infants, children and adolescents who have diseases that result from an abnormality in the endocrine glands (glands which secrete hormones). These diseases include diabetes mellitus, growth failure, unusual size for age, early or late pubertal development, birth defects, the genital region and disorders of the thyroid, the adrenal and pituitary glands. hp.json evaluation by pediatric endocrinologist|pediatric endocrinologist referral|assessment by pediatric endocrinologist|pediatric endocrinologist consultation|referral to pediatric endocrinologist|consultation with pediatric endocrinologist http://purl.obolibrary.org/obo/MAXO_0000710 OBO:MAXO_0000711 biolink:NamedThing pediatric cardiologist evaluation Evaluation by a specialist who provides comprehensive care to patients with cardiovascular problems. This specialist is skilled in selecting, performing, and evaluating the structural and functional assessment of the heart and blood vessels, and the clinical evaluation of cardiovascular disease. hp.json assessment by pediatric cardiologist|evaluation by pediatric cardiologist|pediatric cardiologist referral|consultation with pediatric cardiologist|referral to pediatric cardiologist|pediatric cardiologist consultation http://purl.obolibrary.org/obo/MAXO_0000711 UBERON:5001463 biolink:AnatomicalEntity manual digit 1 plus metapodial segment A subdivision of the autopod consisting of manual digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json manual digit I plus metapodial segment|manual digit 1 ( phalanges plus metapodial) plus soft tissue|manual digit 1 ray|manual digit 1 digitopodial subdivision|manual digit 1 http://purl.obolibrary.org/obo/UBERON_5001463 OBO:MAXO_0000714 biolink:NamedThing psychiatrist evaluation Evaluation by a physician who specializes in the evaluation and treatment of mental, addictive and emotional disorders. hp.json psychiatrist assessment|assessment by psychiatrist|psychiatrist referral|psychiatrist consultation|consult with psychiatrist|evaluation by psychiatrist|referral to psychiatrist http://purl.obolibrary.org/obo/MAXO_0000714 OBO:MAXO_0000715 biolink:NamedThing child and adolescent psychiatrist evaluation Evaluation by a physician who specializes in the evaluation and treatment of mental, addictive and emotional disorders in children and adolescence. hp.json assessment by child and adolescent psychiatrist|assessment by child psychiatrist|child and adolescent psychiatrist referral|child psychiatrist assessment|referral to child and adolescent psychiatrist|child and adolescent psychiatrist consultation|consultation with child and adolescent psychiatrist|evaluation by child and adolescent psychiatrist|child psychiatrist referral|consultation with child psychiatrist|child psychiatrist evaluation|referral to child psychiatrist|child and adolescent psychiatrist assessment http://purl.obolibrary.org/obo/MAXO_0000715 OBO:MAXO_0000712 biolink:NamedThing physiatrist evaluation Assessment by a specialist who treats patients with disorders or disabilities in the muscles, bones, and nervous system, including neck or back pain, sports and work injuries, stroke, brain injury, spinal cord injury, spasticity, and any other disability or disorder that affects function. hp.json physical medicine and rehabilitation specialist assessment|assessment by physiatrist|physiatrist consultation|consultation with physical medicine and rehabilitation specialist|evaluation by physical medicine and rehabilitation specialist|physical medicine and rehabilitation specialist referral|physical medicine and rehabilitation specialist evaluation|consultation by physiatrist|physiatrist assessment|referral to physiatrist|assessment by physical medicine and rehabilitation specialist|physical medicine and rehabilitation specialist consultation|physiatrist referral http://purl.obolibrary.org/obo/MAXO_0000712 OBO:MAXO_0000713 biolink:NamedThing plastic surgeon evaluation An assessment with a specialist who focuses on the repair, reconstruction or replacement of physical defects of form or function involving the skin, musculoskeletal system, craniomaxillofacial structures, hand, extremities, breast and trunk and external genitalia or cosmetic enhancement of these areas of the body. hp.json consultation with plastic surgeon|evaluation by plastic surgeon|plastic surgeon assessment|plastic surgeon referral|plastic surgeon consultation http://purl.obolibrary.org/obo/MAXO_0000713 HP:0011530 biolink:PhenotypicFeature Retinal hole A small break in the retina. SNOMEDCT_US:95690009|MSH:D012167|SNOMEDCT_US:232003005|SNOMEDCT_US:302888003|UMLS:C0035321|SNOMEDCT_US:40024006 hp.json Retinal holes http://purl.obolibrary.org/obo/HP_0011530 HP:0011531 biolink:PhenotypicFeature Vitritis Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. SNOMEDCT_US:95802009|UMLS:C0235812 hp.json Hyalitis|Vitreitis http://purl.obolibrary.org/obo/HP_0011531 hposlim_core CHEBI:28963 biolink:ChemicalSubstance amino sugar Any sugar having one or more alcoholic hydroxy groups replaced by substituted or unsubstituted amino groups. PMID:9056391|PMID:18424273|KEGG:C05383 hp.json aminosugar|Aminosugars|amino sugars http://purl.obolibrary.org/obo/CHEBI_28963 3_STAR HP:0011532 biolink:PhenotypicFeature Subretinal exudate A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. SNOMEDCT_US:247156002|UMLS:C0423431 hp.json http://purl.obolibrary.org/obo/HP_0011532 HP:0011533 biolink:PhenotypicFeature Snowflake vitreoretinal degeneration The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. UMLS:C1860405|MSH:C536677 hp.json Snowflake retinal degeneration http://purl.obolibrary.org/obo/HP_0011533 HP:0011534 biolink:PhenotypicFeature Abnormal spatial orientation of the cardiac segments Abnormality of the spatial relationship of the cardiac segments to other components of the heart. UMLS:C4023313 hp.json http://purl.obolibrary.org/obo/HP_0011534 CHEBI:28965 biolink:ChemicalSubstance dicarboxylic acid dianion A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid. hp.json dicarboxylic acid dianions|a dicarboxylate|dicarboxylate|dicarboxylates|dicarboxylic acid dianion http://purl.obolibrary.org/obo/CHEBI_28965 3_STAR UBERON:0035322 biolink:AnatomicalEntity right common iliac artery NCIT:C33474|FMA:14765 hp.json trunk of right common iliac arterial tree http://purl.obolibrary.org/obo/UBERON_0035322 human_reference_atlas GO:0097194 biolink:BiologicalProcess execution phase of apoptosis A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. hp.json apoptosis|execution phase of apoptotic process http://purl.obolibrary.org/obo/GO_0097194 GO:0097190 biolink:BiologicalProcess apoptotic signaling pathway The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. hp.json induction of apoptosis by extracellular signals|apoptotic signalling pathway http://purl.obolibrary.org/obo/GO_0097190 UBERON:0011349 biolink:AnatomicalEntity pterygomandibular raphe The pterygomandibular raphe (pterygomandibular ligament) is a tendinous band of the buccopharyngeal fascia, attached by one extremity to the hamulus of the medial pterygoid plate, and by the other to the posterior end of the mylohyoid line of the mandible. Its medial surface is covered by the mucous membrane of the mouth. Its lateral surface is separated from the ramus of the mandible by a quantity of adipose tissue. Its posterior border gives attachment to the superior pharyngeal constrictor muscle. Its anterior border attaches to the posterior edge of the buccinator. FMA:55618 hp.json pterygomandibular ligament|pterygomandibular raph%c3%a9 http://purl.obolibrary.org/obo/UBERON_0011349 UBERON:0035316 biolink:AnatomicalEntity prostatic capsule The membrane the surrounds the prostate gland. FMA:19583|NCIT:C13086 hp.json capsule of prostate gland|capsule of prostate http://purl.obolibrary.org/obo/UBERON_0035316 GO:0120054 biolink:BiologicalProcess intestinal motility Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth). hp.json http://purl.obolibrary.org/obo/GO_0120054 CHEBI:41941 biolink:ChemicalSubstance (3,4-dihydroxyphenyl)acetic acid A dihydroxyphenylacetic acid having the two hydroxy substituents located at the 3- and 4-positions. It is a metabolite of dopamine. PMID:11681538|Wikipedia:DOPAC|PMID:4420192|PMID:18706927|PDBeChem:DHY|PMID:22770225|PMID:11251641|PMID:15212971|PMID:11868042|CAS:102-32-9|Reaxys:2211017|DrugBank:DB01702|Beilstein:2211017|PMID:19191673|HMDB:HMDB0001336|PMID:15862791|CAS:102-32-9|KEGG:C01161|Gmelin:874810|CAS:102-32-9 hp.json (3,4-dihydroxyphenyl)acetic acid|2-(3,4-DIHYDROXYPHENYL)ACETIC ACID|3,4-Dihydroxyphenylacetic acid|homoprotocatechuic acid|3,4-Dihydroxyphenyl acetic acid|dopacetic acid|3,4-dihydroxyphenylacetic acid http://purl.obolibrary.org/obo/CHEBI_41941 3_STAR HP:0011535 biolink:PhenotypicFeature Abnormal atrial arrangement Abnormality of the spatial relationship of the atria to other components of the heart. UMLS:C2959688|SNOMEDCT_US:445898001 hp.json Abnormal location of heart atrium http://purl.obolibrary.org/obo/HP_0011535 HP:0011536 biolink:PhenotypicFeature Right atrial isomerism Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. MSH:D059446|UMLS:C3178806 hp.json http://purl.obolibrary.org/obo/HP_0011536 HP:0011537 biolink:PhenotypicFeature Left atrial isomerism In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. EPCC:03.01.05|ICD-10:Q20.6|MSH:D059446|UMLS:C3178807 hp.json http://purl.obolibrary.org/obo/HP_0011537 HP:0011538 biolink:PhenotypicFeature Atrial situs inversus Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. EPCC:03.01.03|Fyler:0150|UMLS:C4023312|ICD-10:Q89.3|Fyler:150 hp.json http://purl.obolibrary.org/obo/HP_0011538 HP:0011539 biolink:PhenotypicFeature Atrial situs ambiguous Common atrium without defining morphologic features. UMLS:C3164429|SNOMEDCT_US:448681000 hp.json Atrial situs ambiguus|Atrial heterotaxy http://purl.obolibrary.org/obo/HP_0011539 HP:0011520 biolink:PhenotypicFeature Deuteranomaly A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. SNOMEDCT_US:77479002|MSH:D003117|UMLS:C0155016|SNOMEDCT_US:246674000 hp.json Deuteranomoly|Green-weak http://purl.obolibrary.org/obo/HP_0011520 HP:0011521 biolink:PhenotypicFeature Deuteranopia Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green. SNOMEDCT_US:77479002|MSH:D003117|UMLS:C0155016|SNOMEDCT_US:246674000 hp.json Green-blind http://purl.obolibrary.org/obo/HP_0011521 HP:0011522 biolink:PhenotypicFeature Protanopia Blue and green cones only; no functional red cones. SNOMEDCT_US:51445007|MSH:D003117|UMLS:C0155015 hp.json Red-blind http://purl.obolibrary.org/obo/HP_0011522 CHEBI:28976 biolink:ChemicalSubstance carbonic acid CAS:463-79-6|CAS:463-79-6|Gmelin:25554|PDBeChem:CO3|KEGG:C01353 hp.json carbonic acid|H2CO3|dihydroxidooxidocarbon|Dihydrogen carbonate|Carbonic acid|Koehlensaeure|H2CO3|[CO(OH)2] http://purl.obolibrary.org/obo/CHEBI_28976 3_STAR HP:0011523 biolink:PhenotypicFeature Iris cyst An iris cyst is composed of a single cell layer of epithelium and is filled with fluid. UMLS:C0271119|SNOMEDCT_US:37761009 hp.json http://purl.obolibrary.org/obo/HP_0011523 UBERON:0011342 biolink:AnatomicalEntity surface of mandible An anatomical surface that is part of a mandible. FMA:57558 hp.json mandibular surface http://purl.obolibrary.org/obo/UBERON_0011342 UBERON:0011344 biolink:AnatomicalEntity lateral surface of mandible FMA:59463 hp.json lateral surface of ramus of mandible|external surface of ramus of mandible|lateral surface of mandibular ramus http://purl.obolibrary.org/obo/UBERON_0011344 HP:0011524 biolink:PhenotypicFeature Iris melanoma Malignant tumor of melanocytes affecting the iris. SNOMEDCT_US:255012009|UMLS:C0346373|NCIT:C3224 hp.json http://purl.obolibrary.org/obo/HP_0011524 HP:0011525 biolink:PhenotypicFeature Iris nevus A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated. UMLS:C0346376|SNOMEDCT_US:95711003 hp.json Eye freckle http://purl.obolibrary.org/obo/HP_0011525 HP:0011526 biolink:PhenotypicFeature Abnormality of lens shape An abnormal shape of the lens. UMLS:C4023314 hp.json Abnormality of lens shape http://purl.obolibrary.org/obo/HP_0011526 HP:0011527 biolink:PhenotypicFeature Lentiglobus Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. UMLS:C4280322|SNOMEDCT_US:419281007|UMLS:C1622439 hp.json Bulging of eye lens http://purl.obolibrary.org/obo/HP_0011527 hposlim_core HP:0011528 biolink:PhenotypicFeature Solitary congenital hypertrophy of retinal pigment epithelium Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance. UMLS:C4021145 hp.json Single isolated CHRPE|Single isolated congenital hypertrophy of retinal pigment epithelium http://purl.obolibrary.org/obo/HP_0011528 HP:0011529 biolink:PhenotypicFeature Multiple bilateral congenital hypertrophy of retinal pigment epithelium Sharply demarcated hyperpigmentation which is congenital. UMLS:C4021144 hp.json Multiple bilateral CHRPE http://purl.obolibrary.org/obo/HP_0011529 HP:0011510 biolink:PhenotypicFeature Drusen Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. SNOMEDCT_US:18695008|UMLS:C1260959 hp.json http://purl.obolibrary.org/obo/HP_0011510 HP:0011511 biolink:PhenotypicFeature Macular schisis Splitting of the retina in the macular region. UMLS:C4023321 hp.json http://purl.obolibrary.org/obo/HP_0011511 HP:0011512 biolink:PhenotypicFeature Hyperpigmentation of the fundus Increased pigmentation of the fundus UMLS:C4021146 hp.json Hyperpigmented fundus|Hyperpigmented fundi http://purl.obolibrary.org/obo/HP_0011512 CHEBI:28940 biolink:ChemicalSubstance calciol A hydroxy seco-steroid that is (5Z,7E)-9,10-secocholesta-5,7,10(19)-triene in which the pro-S hydrogen at position 3 has been replaced by a hydroxy group. It is the inactive form of vitamin D3, being hydroxylated in the liver to calcidiol (25-hydroxyvitamin D3), which is then further hydroxylated in the kidney to give calcitriol (1,25-dihydroxyvitamin D3), the active hormone. PDBeChem:VD3|PPDB:160|PMID:16886665|PMID:12174089|PMID:2997282|PMID:9627702|LIPID_MAPS_instance:LMST03020001|Gmelin:1267613|KEGG:D00188|PMID:19817701|HMDB:HMDB0000876|LIPID_MAPS_instance:LMST03020000|PMID:3494111|Wikipedia:Cholecalciferol|CAS:67-97-0|KEGG:C05443|PMID:11493580|PMID:2838261|CAS:67-97-0|DrugBank:DB00169|PMID:12955389|CAS:67-97-0|PMID:24304198|PMID:23964472|PMID:15214747|PMID:6265326|PMID:10347174|Drug_Central:2840|PMID:15876428|PMID:17156784|Reaxys:2339331|Beilstein:2339331|PMID:184223 hp.json activated 7-dehydrocholesterol|(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol|calciol|Cholecalciferol|colecalciferol|Delta-D|CC|calciol|Vitamin D3|(1S,3Z)-3-[(2E)-2-[(1R,3AR,7AS)-7A-METHYL-1-[(2R)-6-METHYLHEPTAN-2-YL]-2,3,3A,5,6,7-HEXAHYDRO-1H-INDEN-4-YLIDENE]ETHYLIDENE]-4-METHYLIDENE-CYCLOHEXAN-1-OL|(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol|(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol|vitamin D3|(+)-vitamin D3|oleovitamin D3|Vitamin D3 http://purl.obolibrary.org/obo/CHEBI_28940 3_STAR UBERON:0011332 biolink:AnatomicalEntity extrinsic tongue pre-muscle mass EMAPA:17884 hp.json http://purl.obolibrary.org/obo/UBERON_0011332 CHEBI:16997 biolink:ChemicalSubstance propane-1,2-diol The simplest member of the class of propane-1,2-diols, consisting of propane in which a hydrogen at position 1 and a hydrogen at position 2 are substituted by hydroxy groups. A colourless, viscous, hygroscopic, low-melting (-59degreeC) and high-boiling (188degreeC) liquid with low toxicity, it is used as a solvent, emulsifying agent, and antifreeze. Wikipedia:Propylene_glycol|PMID:16078503|HMDB:HMDB0001881|LINCS:LSM-36856|VSDB:1304|CAS:57-55-6|PPDB:1304|PMID:15665701|DrugBank:DB01839|CAS:57-55-6|PMID:21616561|CAS:57-55-6|Drug_Central:4024|PMID:18845115|KEGG:C00583|KEGG:D00078|KNApSAcK:C00007410|Reaxys:1340498|PMID:18346395 hp.json 1,2-dihydroxypropane|methylethyl glycol|PPD|propane-1,2-diol|methylethylene glycol|MeCH(OH)CH2OH|propane-1,2-diol|isopropylene glycol|monopropylene glycol|1,2-Propylenglykol|methyl glycol|Propylene glycol|HOCH2CH(OH)CH3|HOCH2CH(OH)Me|CH3CH(OH)CH2OH|Propane-1,2-diol|2-hydroxypropanol|alpha-propyleneglycol|1,2-Propanediol http://purl.obolibrary.org/obo/CHEBI_16997 3_STAR CHEBI:16995 biolink:ChemicalSubstance oxalic acid An alpha,omega-dicarboxylic acid that is ethane substituted by carboxyl groups at positions 1 and 2. CAS:144-62-7|KEGG:C00209|Beilstein:385686|LIPID_MAPS_instance:LMFA01170031|Reaxys:385686|CAS:144-62-7|PDBeChem:OXD|PMID:15587083|PMID:22735334|CAS:144-62-7|KNApSAcK:C00001198|HMDB:HMDB0002329|Gmelin:2208|DrugBank:DB03902|MetaCyc:OXALATE|Wikipedia:Oxalic_acid hp.json ethane-1,2-dioic acid|Oxalsaeure|H2ox|oxalic acid|Ethanedioic acid|Ethandisaeure|Oxalic acid|HOOCCOOH|OXALIC ACID http://purl.obolibrary.org/obo/CHEBI_16995 3_STAR OBO:MAXO_0000808 biolink:NamedThing urine glucose measurement A measurement of the amount of sugar (glucose) in a urine sample. hp.json urine glucose testing|urine glucose assessment|urine glucose monitoring http://purl.obolibrary.org/obo/MAXO_0000808 OBO:MAXO_0000809 biolink:NamedThing syphilis screening Testing for sexually transmitted disease syphilis. Syphilis is a contagious bacterial infection caused by the spirochete Treponema pallidum. hp.json syphylis testing http://purl.obolibrary.org/obo/MAXO_0000809 HP:0011513 biolink:PhenotypicFeature Retinal cavernous angioma A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance. SNOMEDCT_US:312937006|UMLS:C0730304 hp.json http://purl.obolibrary.org/obo/HP_0011513 HP:0011514 biolink:PhenotypicFeature Abnormality of binocular vision An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. UMLS:C4023320 hp.json http://purl.obolibrary.org/obo/HP_0011514 HP:0011515 biolink:PhenotypicFeature Abnormal stereopsis Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head. UMLS:C4023319 hp.json http://purl.obolibrary.org/obo/HP_0011515 HP:0011516 biolink:PhenotypicFeature Achromatopsia A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. SNOMEDCT_US:102450007|MSH:C536021|UMLS:C0302129 hp.json Rod monochromacy|Rod monochromatism http://purl.obolibrary.org/obo/HP_0011516 HP:0011517 biolink:PhenotypicFeature Cone monochromacy The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors. UMLS:C4023318 hp.json http://purl.obolibrary.org/obo/HP_0011517 CHEBI:16990 biolink:ChemicalSubstance bilirubin IXalpha A member of the class of biladienes that is a linear tetrapyrrole with the dipyrrole units being of both exovinyl and endovinyl type. A product of heme degradation, it is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin. KNApSAcK:C00029828|PMID:18442622|PMID:23768684|HMDB:HMDB0000054|PMID:23763371|Gmelin:411033|PMID:9587403|PDBeChem:BLR|CAS:635-65-4|CAS:635-65-4|KEGG:C00486|PMID:8605219|MetaCyc:BILIRUBIN|Wikipedia:Bilirubin|Reaxys:74376|PMID:30224965|Beilstein:74376|PMID:12799017 hp.json bilirubin-IXalpha|bilirubin|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|3,18-diethenyl-2,7,13,17-tetramethyl-1,19-dioxo-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|1,10,19,22,23,24-hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinylbiline-8,12-dipropionic acid|bilirubin(Z,Z)|8,12-bis(2-carboxyethyl)-2,7,13,17-tetramethyl-3,18-divinylbiladiene-ac-1,19(21H,24H)-dione|Bilirubin|2,17-diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-biline-8,12-dipropanoic acid http://purl.obolibrary.org/obo/CHEBI_16990 3_STAR HP:0011518 biolink:PhenotypicFeature Dichromacy Individuals affected by dichromacy possess only two types of cones, instead of three. UMLS:C4023317 hp.json http://purl.obolibrary.org/obo/HP_0011518 HP:0011519 biolink:PhenotypicFeature Anomalous trichromacy Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones. UMLS:C4023316 hp.json http://purl.obolibrary.org/obo/HP_0011519 HP:0011500 biolink:PhenotypicFeature Polycoria Multiple pupils. SNOMEDCT_US:204159004|UMLS:C0344544 hp.json Multiple pupils http://purl.obolibrary.org/obo/HP_0011500 HP:0011501 biolink:PhenotypicFeature Anterior lenticonus A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. UMLS:C0344262|SNOMEDCT_US:95480008 hp.json http://purl.obolibrary.org/obo/HP_0011501 GO:0097186 biolink:BiologicalProcess amelogenesis The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage. hp.json enamel development http://purl.obolibrary.org/obo/GO_0097186 UBERON:0035350 biolink:AnatomicalEntity branch of middle cerebral artery FMA:50081|NCIT:C33114 hp.json middle cerebral arterial branch http://purl.obolibrary.org/obo/UBERON_0035350 UBERON:0011320 biolink:AnatomicalEntity ligament of temporomandibular joint FMA:57070 hp.json temporomandibular joint ligament http://purl.obolibrary.org/obo/UBERON_0011320 UBERON:0011322 biolink:AnatomicalEntity mylohyoid nerve A nerve that innervates the mylohyoid muscle and the anterior belly of the digastric muscle. FMA:53247|BAMS:myhy hp.json mylohyoid branch of inferior alveolar nerve|nerve to mylohyoid|nervus mylohyoideus|branch of inferior alveolar nerve to mylohyoid|nerve to mylohyoid|nervus mylohyoideus|mylodigastric nerve http://purl.obolibrary.org/obo/UBERON_0011322 UBERON:0011321 biolink:AnatomicalEntity masseteric nerve A muscular branch of the mandibular nerve passing to the medial surface of the masseter muscle, which it innervates. FMA:53103 hp.json nervus massetericus http://purl.obolibrary.org/obo/UBERON_0011321 UBERON:0011314 biolink:AnatomicalEntity anterior subdivision of masseter hp.json masseter, anterior http://purl.obolibrary.org/obo/UBERON_0011314 UBERON:0011318 biolink:AnatomicalEntity capsule of temporomandibular joint The articular capsule (capsular ligament) is a thin, loose envelope, attached above to the circumference of the mandibular fossa and the articular tubercle immediately in front; below, to the neck of the condyle of the mandible. MFMO:0000046|FMA:57050 hp.json capsula articularis articulationis temporomandibularis|articular capsule of temporomandibular joint http://purl.obolibrary.org/obo/UBERON_0011318 HP:0011502 biolink:PhenotypicFeature Posterior lenticonus A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. UMLS:C0344263|SNOMEDCT_US:95482000 hp.json http://purl.obolibrary.org/obo/HP_0011502 HP:0011503 biolink:PhenotypicFeature Aplasia of the fovea Congenital absence of the fovea. UMLS:C4023324 hp.json Absent fovea http://purl.obolibrary.org/obo/HP_0011503 HP:0011504 biolink:PhenotypicFeature Bull's eye maculopathy Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. MSH:C537833|UMLS:C0730330|SNOMEDCT_US:312958000|SNOMEDCT_US:424169002|UMLS:C1828210 hp.json Chloroquine retinopathy http://purl.obolibrary.org/obo/HP_0011504 CHEBI:14321 biolink:ChemicalSubstance glutamate(1-) An alpha-amino-acid anion that is the conjugate base of glutamic acid, having anionic carboxy groups and a cationic amino group Gmelin:327908 hp.json hydrogen glutamate|glutamate|glutamate(1-)|glutamic acid monoanion|2-ammoniopentanedioate http://purl.obolibrary.org/obo/CHEBI_14321 3_STAR HP:0011505 biolink:PhenotypicFeature Cystoid macular edema Cystoid macular edema (CME) is any type of macular edema that involves cyst formation. SNOMEDCT_US:193387007|MSH:D008269|UMLS:C0024440 hp.json Cystoid macular oedema http://purl.obolibrary.org/obo/HP_0011505 HP:0011506 biolink:PhenotypicFeature Choroidal neovascularization Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye. UMLS:C4023323 hp.json Choroidal neovascular membrane http://purl.obolibrary.org/obo/HP_0011506 HP:0011507 biolink:PhenotypicFeature Macular flecks Pale often indistinct lesions of the macula. UMLS:C4023322 hp.json http://purl.obolibrary.org/obo/HP_0011507 HP:0011508 biolink:PhenotypicFeature Macular hole A macular hole is a small break in the macula, located in the center of the retina. SNOMEDCT_US:232006002|UMLS:C0024441|MSH:D012167 hp.json http://purl.obolibrary.org/obo/HP_0011508 HP:0011509 biolink:PhenotypicFeature Macular hyperpigmentation Increased amount of pigmentation in the macula lutea. UMLS:C0745109 hp.json http://purl.obolibrary.org/obo/HP_0011509 HP:0011571 biolink:PhenotypicFeature Parachute mitral valve Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. UMLS:C0546965|SNOMEDCT_US:204362007 hp.json http://purl.obolibrary.org/obo/HP_0011571 HP:0011572 biolink:PhenotypicFeature Supramitral ring A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve. UMLS:C4021142 hp.json Membranous supravalvular mitral stenosis|Supravalvular mitral ring http://purl.obolibrary.org/obo/HP_0011572 HP:0011573 biolink:PhenotypicFeature Hypoplastic tricuspid valve Congenital defect characterized by underdevelopment of the tricuspid valve. UMLS:C4023294|Fyler:1720 hp.json Underdeveloped tricuspid valve|Tricuspid valve hypoplasia http://purl.obolibrary.org/obo/HP_0011573 HP:0011574 biolink:PhenotypicFeature Imperforate atrioventricular valve An atrioventricular valve that has failed to open (atretic). UMLS:C4023293 hp.json Unopened atrioventricular valve http://purl.obolibrary.org/obo/HP_0011574 HP:0011575 biolink:PhenotypicFeature Imperforate tricuspid valve A tricuspid valve that has failed to open. UMLS:C4023292 hp.json Unopened tricuspid valve http://purl.obolibrary.org/obo/HP_0011575 HP:0011576 biolink:PhenotypicFeature Intermediate atrioventricular canal defect A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices. UMLS:C4023291|Fyler:1121 hp.json Intermediate atrioventricular septal defect http://purl.obolibrary.org/obo/HP_0011576 HP:0011577 biolink:PhenotypicFeature Partial atrioventricular canal defect A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. SNOMEDCT_US:718216009|UMLS:C4023290 hp.json http://purl.obolibrary.org/obo/HP_0011577 UBERON:0011391 biolink:AnatomicalEntity perineal nerve A nerve arising from the pudendal nerve that supplies the perineum. FMA:21866 hp.json perineal branch of pudendal nerve http://purl.obolibrary.org/obo/UBERON_0011391 UBERON:0011390 biolink:AnatomicalEntity pudendal nerve The pudendal nerve is a somatic nerve in the pelvic region that innervates the external genitalia of both sexes, as well as sphincters for the bladder and the rectum. It originates in Onuf's nucleus in the sacral region of the spinal cord. FMA:19037|MESH:D060525 hp.json nervus pudendales|internal pudendal nerve|pudendal|nervus pudendae|nervus pudendae|pudenal nerve http://purl.obolibrary.org/obo/UBERON_0011390 human_reference_atlas HP:0011578 biolink:PhenotypicFeature Transitional atrioventricular canal defect A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices. UMLS:C4023289 hp.json http://purl.obolibrary.org/obo/HP_0011578 HP:0011570 biolink:PhenotypicFeature Congenital mitral stenosis Mitral stenosis with congenital onset. UMLS:C0158618|SNOMEDCT_US:82458004 hp.json http://purl.obolibrary.org/obo/HP_0011570 HP:0011579 biolink:PhenotypicFeature Unbalanced atrioventricular canal defect Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). UMLS:C3280940 hp.json Unbalanced atrioventricular septal defect http://purl.obolibrary.org/obo/HP_0011579 HP:0011560 biolink:PhenotypicFeature Mitral atresia A congenital defect with failure to open of the mitral valve orifice. UMLS:C0344760|Fyler:0310|EPCC:06.02.01|SNOMEDCT_US:23063005|ICD-10:Q23.2|Fyler:310 hp.json Mitral valve atresia http://purl.obolibrary.org/obo/HP_0011560 HP:0011561 biolink:PhenotypicFeature Overriding atrioventricular valve An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect. UMLS:C4023298 hp.json http://purl.obolibrary.org/obo/HP_0011561 HP:0011562 biolink:PhenotypicFeature Straddling atrioventricular valve Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect. UMLS:C4023297 hp.json http://purl.obolibrary.org/obo/HP_0011562 HP:0011563 biolink:PhenotypicFeature Abnormal ventriculoarterial connection An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. UMLS:C4023296 hp.json Abnormal ventriculoarterial connexion|Abnormal ventriculo-arterial connection http://purl.obolibrary.org/obo/HP_0011563 HP:0011564 biolink:PhenotypicFeature Mitral valve arcade Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle. UMLS:C4021143 hp.json Hammock mitral valve http://purl.obolibrary.org/obo/HP_0011564 HP:0011565 biolink:PhenotypicFeature Common atrium Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. ICD-10:Q21.2|UMLS:C0392482|Fyler:1140|SNOMEDCT_US:253276007 hp.json Single atrium http://purl.obolibrary.org/obo/HP_0011565 HP:0011566 biolink:PhenotypicFeature Cor triatriatum dexter A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue. Fyler:2854|UMLS:C0344697|SNOMEDCT_US:274947007 hp.json Cor triatriatum dextrum http://purl.obolibrary.org/obo/HP_0011566 UBERON:0011380 biolink:AnatomicalEntity female external urethral sphincter The external sphincter muscle of female urethra is a muscle which controls urination. FMA:19778 hp.json musculus sphincter urethrae externus urethrae femininae|compressor urethrae|rhabdosphincter of female urethra|musculus sphincter urethrae externus (urethra feminina)|striated muscle layer of female urethra|outer muscle layer of female urethra|urethrovaginal sphincter|sphincter urethrovaginalis|external urethral sphincter of female urethra http://purl.obolibrary.org/obo/UBERON_0011380 HP:0011567 biolink:PhenotypicFeature Sinus venosus atrial septal defect An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting. SNOMEDCT_US:95268002|MSH:C548009|ICD-10:Q21.1|UMLS:C0344730|Fyler:2010 hp.json http://purl.obolibrary.org/obo/HP_0011567 UBERON:0011386 biolink:AnatomicalEntity facial modiolus A chiasma of facial muscles held together by fibrous tissue, located lateral and slightly superior to each angle of the mouth. It is important in moving the mouth, facial expression and in dentistry. It derives its motor nerve supply from the facial nerve, and its blood supply from labial branches of the facial artery. It is contributed to by the following muscles: orbicularis oris, buccinator, levator anguli oris, depressor anguli oris, zygomaticus major, risorius quadratus labii superioris, quadratus labii inferioris. MFMO:0000057|FMA:46837 hp.json modiolus|modiolus anguli oris http://purl.obolibrary.org/obo/UBERON_0011386 CHEBI:16924 biolink:ChemicalSubstance 5-oxo-D-proline The D-enantiomer of 5-oxoproline. Gmelin:1473408|DrugBank:DB03088|KEGG:C02237|PMID:22770225|MetaCyc:CPD-656|Reaxys:82133|Beilstein:82133|CAS:4042-36-8|CAS:4042-36-8|HMDB:HMDB0000267 hp.json (2R)-5-oxopyrrolidine-2-carboxylic acid|D-5-Pyrrolidone-2-carboxylic acid|D-Pyroglutamic acid|5-oxo-D-proline|5-Oxo-D-proline http://purl.obolibrary.org/obo/CHEBI_16924 3_STAR GO:0120025 biolink:CellularComponent plasma membrane bounded cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. hp.json http://purl.obolibrary.org/obo/GO_0120025 GO:0120023 biolink:MolecularActivity somatostatin binding Binding to somatostatin, a polypeptide hormone involved in regulating pancreatic alpha and pancreatic beta cells and controlling growth hormone secretion as well as many other functions. Somatostatin is produced by several cell types including pancreatic delta cells. There are several different mature forms of somatostatin. hp.json http://purl.obolibrary.org/obo/GO_0120023 HP:0011568 biolink:PhenotypicFeature Double orifice mitral valve The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue. SNOMEDCT_US:253402005|UMLS:C0344770 hp.json http://purl.obolibrary.org/obo/HP_0011568 HP:0011569 biolink:PhenotypicFeature Cleft anterior mitral valve leaflet Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect. UMLS:C4023295 hp.json http://purl.obolibrary.org/obo/HP_0011569 CHEBI:28938 biolink:ChemicalSubstance ammonium An onium cation obtained by protonation of ammonia. PMID:19716251|PMID:17392693|Wikipedia:Ammonium|PMID:11341317|PMID:18515490|PDBeChem:NH4|Gmelin:84|MetaCyc:AMMONIUM|CAS:14798-03-9|PMID:22524020|MolBase:929|Reaxys:16093784|PMID:22265469|PMID:11319011|PMID:19199063|PMID:16903292|PMID:22631217|KEGG:C01342|CAS:14798-03-9|PMID:19682559|PMID:14512268|PMID:12096804|PMID:22562341|PMID:14879753|PMID:21993530|PMID:16345391|PMID:19596600 hp.json Ammonium(1+)|azanium|NH4(+)|NH4(+)|ammonium ion|NH4+|ammonium|ammonium cation|[NH4](+)|ammonium http://purl.obolibrary.org/obo/CHEBI_28938 3_STAR CHEBI:77941 biolink:ChemicalSubstance EC 3.5.1.4 (amidase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). Wikipedia:Amidase hp.json deaminase inhibitor|EC 3.5.1.4 inhibitor|amidohydrolase inhibitors|amidohydrolase inhibitor|EC 3.5.1.4 inhibitors|deaminase inhibitors|N-acetylaminohydrolase inhibitor|amidase inhibitor|amidase (EC 3.5.1.4) inhibitors|fatty acylamidase inhibitors|EC 3.5.1.4 (amidase) inhibitors|acylamide amidohydrolase inhibitors|acylamidase inhibitors|acylamidase inhibitor|acylamide amidohydrolase inhibitor|fatty acylamidase inhibitor|amidase (EC 3.5.1.4) inhibitor|N-acetylaminohydrolase inhibitors|amidase inhibitors http://purl.obolibrary.org/obo/CHEBI_77941 3_STAR HP:0011550 biolink:PhenotypicFeature Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection UMLS:C4023304 hp.json http://purl.obolibrary.org/obo/HP_0011550 HP:0011551 biolink:PhenotypicFeature Right sided atrium to left ventricle and absent left sided atrioventricular connection UMLS:C4023303 hp.json Right sided atrium to left ventricle and absent left sided atrioventricular connexion http://purl.obolibrary.org/obo/HP_0011551 HP:0011552 biolink:PhenotypicFeature Ambiguous atrioventricular connection With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle). SNOMEDCT_US:253278008|UMLS:C0344617 hp.json Ambiguous atrioventricular connexion http://purl.obolibrary.org/obo/HP_0011552 HP:0011553 biolink:PhenotypicFeature Discordant atrioventricular connection Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. UMLS:C0344615|SNOMEDCT_US:253277003 hp.json Discordant atrioventricular connexion http://purl.obolibrary.org/obo/HP_0011553 UBERON:0011371 biolink:AnatomicalEntity sternocephalicus muscle The sternocephalicus is a flat muscle and its caudal border is adjacent to the ventral border of the brachiocephalicus. The lateral aspect of this muscle is crossed obliquely by the external jugular vein. It originates as a unit on the first sternebrae. The cranial portion of the muscle divides into two separate sections with different insertion points. These are the sternomastoideus and the sterno-occipitalis. The ventral portion, the sternomastiodeus is the stronger and main continuation of the sternocephalicus, which inserts on the mastoid part of the temporal bone. The thin but wide dorsal segment, the sterno-occipitalis attaches to the dorsal nuchal crest by a thin aponeurosis. The main action provided by the sternocephalicus is movement of the head and neck to the side. Ventral branches of the cervical nerves are attached to this muscle. NCIT:C117980 hp.json sternocephalicus http://purl.obolibrary.org/obo/UBERON_0011371 HP:0011554 biolink:PhenotypicFeature Double inlet atrioventricular connection The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. UMLS:C4023302|ICD-10:Q20.4|EPCC:01.01.14 hp.json Double inlet atrioventricular connexion http://purl.obolibrary.org/obo/HP_0011554 UBERON:0011370 biolink:AnatomicalEntity transverse process of atlas A transverse process of vertebra that is part of a vertebral bone 1. FMA:23981 hp.json http://purl.obolibrary.org/obo/UBERON_0011370 HP:0011555 biolink:PhenotypicFeature Double inlet left ventricle The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. EPCC:01.04.04|ICD-10:Q20.4|SNOMEDCT_US:253283000|UMLS:C0344622 hp.json http://purl.obolibrary.org/obo/HP_0011555 OBO:uberon/core#proximally_connected_to biolink:NamedThing proximally connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. hp.json http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to HP:0011556 biolink:PhenotypicFeature Double inlet right ventricle The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. EPCC:01.04.03|ICD-10:Q20.4|UMLS:C0344621|SNOMEDCT_US:253282005 hp.json http://purl.obolibrary.org/obo/HP_0011556 UBERON:0011375 biolink:AnatomicalEntity skin of prepuce of clitoris A zone of skin that is part of a prepuce of clitoris. FMA:27886 hp.json preputial skin of clitoris http://purl.obolibrary.org/obo/UBERON_0011375 UBERON:0011374 biolink:AnatomicalEntity prepuce A retractable double-layered fold of skin and mucous membrane that covers the glans penis or clitoris. Glands may also be present. NCIT:C12323 hp.json http://purl.obolibrary.org/obo/UBERON_0011374 UBERON:0011379 biolink:AnatomicalEntity male external urethral sphincter The external sphincter muscle of urethra (or sphincter urethrae membranaceae) surrounds the whole length of the membranous portion of the urethra, and is enclosed in the fasciæ of the urogenital diaphragm. They arch across the front of the urethra and bulbourethral glands, pass around the urethra, and behind it unite with the muscle of the opposite side, by means of a tendinous raphé. MA:0002273|FMA:19733|UMLS:C1707060|NCIT:C52891 hp.json external urethral sphincter of male urethra|bulboglandular muscle|male sphincter urethrae muscle|male sphincter urethrae|male urethral sphincter muscle|musculus sphincter urethrae externus urethrae masculinae|musculus sphincter urethrae externus (urethra masculina)|bulboglandular|musculus sphincter urethrae membranaceae http://purl.obolibrary.org/obo/UBERON_0011379 GO:0120039 biolink:BiologicalProcess plasma membrane bounded cell projection morphogenesis The process in which the anatomical structures of a plasma membrane bounded cell projection are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0120039 GO:0120035 biolink:BiologicalProcess regulation of plasma membrane bounded cell projection organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of plasma membrane bounded cell projections. hp.json http://purl.obolibrary.org/obo/GO_0120035 CHEBI:16958 biolink:ChemicalSubstance beta-alanine A naturally-occurring beta-amino acid comprising propionic acid with the amino group in the 3-position. PMID:18528519|KNApSAcK:C00001333|PMID:12887142|CAS:107-95-9|PMID:20994958|CAS:107-95-9|PMID:19955842|PMID:14363188|Wikipedia:Beta-Alanine|PMID:12107759|KEGG:C00099|PMID:11850512|PMID:20479615|MetaCyc:B-ALANINE|PMID:18613640|Gmelin:49614|DrugBank:DB03107|PMID:20199122|HMDB:HMDB0000056|PDBeChem:BAL|PMID:19239140|PMID:20386120|Beilstein:906793|PMID:11139233|KEGG:D07561|PMID:22735334|CAS:107-95-9|PMID:16934791|Reaxys:906793 hp.json beta-alanine|3-aminopropanoic acid|3-Aminopropionic acid|3-aminopropanoic acid|H-beta-Ala-OH|beta-Alanine|beta-aminopropionic acid|bAla|BETA-ALANINE|omega-aminopropionic acid http://purl.obolibrary.org/obo/CHEBI_16958 3_STAR GO:0120036 biolink:BiologicalProcess plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. hp.json http://purl.obolibrary.org/obo/GO_0120036 GO:0120031 biolink:BiologicalProcess plasma membrane bounded cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. hp.json eupodium http://purl.obolibrary.org/obo/GO_0120031 GO:0120032 biolink:BiologicalProcess regulation of plasma membrane bounded cell projection assembly Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly. hp.json http://purl.obolibrary.org/obo/GO_0120032 GO:0120033 biolink:BiologicalProcess negative regulation of plasma membrane bounded cell projection assembly Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly. hp.json http://purl.obolibrary.org/obo/GO_0120033 GO:0120034 biolink:BiologicalProcess positive regulation of plasma membrane bounded cell projection assembly Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly. hp.json http://purl.obolibrary.org/obo/GO_0120034 HP:0011557 biolink:PhenotypicFeature Double inlet to single ventricle of indeterminate morphology The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle. UMLS:C4023301 hp.json http://purl.obolibrary.org/obo/HP_0011557 HP:0011558 biolink:PhenotypicFeature Double inlet to single ventricle with common atrioventricular orifice UMLS:C4023300 hp.json http://purl.obolibrary.org/obo/HP_0011558 HP:0011559 biolink:PhenotypicFeature Double inlet to single ventricle with two atrioventricular valves UMLS:C4023299 hp.json http://purl.obolibrary.org/obo/HP_0011559 CHEBI:77968 biolink:ChemicalSubstance humectant A compound that is used to keep a substance moist. Wikipedia:humectant hp.json humectants http://purl.obolibrary.org/obo/CHEBI_77968 3_STAR HP:0011540 biolink:PhenotypicFeature Congenitally corrected transposition of the great arteries The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta. SNOMEDCT_US:56743000|UMLS:C0344616|ICD-10:Q20.5|MSH:C535426|UMLS:C0232301|SNOMEDCT_US:83799000|EPCC:01.01.03 hp.json Ventricular inversion|L-transposition http://purl.obolibrary.org/obo/HP_0011540 HP:0011541 biolink:PhenotypicFeature Criss-cross atrioventricular valves Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis. UMLS:C4023310 hp.json http://purl.obolibrary.org/obo/HP_0011541 HP:0011542 biolink:PhenotypicFeature Criss-cross atrioventricular valves with superior-inferior ventricles Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side. UMLS:C4023309 hp.json http://purl.obolibrary.org/obo/HP_0011542 HP:0011543 biolink:PhenotypicFeature Superior-inferior ventricles without criss-cross atrioventricular valves Fyler:0184|Fyler:184|UMLS:C4023308 hp.json http://purl.obolibrary.org/obo/HP_0011543 HP:0011544 biolink:PhenotypicFeature L-looping of the right ventricle UMLS:C4023307 hp.json http://purl.obolibrary.org/obo/HP_0011544 HP:0011545 biolink:PhenotypicFeature Abnormal connection of the cardiac segments A deviance in the normal connections between two cardiac segements. UMLS:C4023306 hp.json Discordant connection of the cardiac segments|Abnormal connexion of the cardiac segments http://purl.obolibrary.org/obo/HP_0011545 CHEBI:77969 biolink:ChemicalSubstance food humectant A humectant that is used as a food additive to prevent foodstuffs from drying out. hp.json food humectants http://purl.obolibrary.org/obo/CHEBI_77969 3_STAR UBERON:0011364 biolink:AnatomicalEntity cleidocephalicus muscle The cleidomastoideus is a thick, strap-like muscle that together with the cleidocervicalis forms the proximal part of the brachiocephalicus. It lies beneath the cleidocervicalis. Its origin is the clavicular tendon with its insertion being at the mastoid process of the temporal bone. It is distinctly narrow and is united with the cleidocervicalis and cleidobrachialis by the clavicular tendon. Together with the other two components of the brachiocephalicus muscle, its primary function is to advance the free limb, however, it can also act as an shoulder extensor. Acting bilaterally, it fixes and depresses the neck, while by its unilateral action, it allows the head and neck to be drawn to the side. Its blood supply is the inferior cervical, carotid and vertebral arteries and its nerve supply is the spinal accessory, cervical and axillary nerves. EMAPA:37687|UMLS:C1707412|NCIT:C52893|MA:0002275 hp.json cleidomastoid|pars mastoideus|cleidocephalicus|cleidomastoideus|cleidocephalic|cleidomastoid muscle|cleidocephalic muscle http://purl.obolibrary.org/obo/UBERON_0011364 UBERON:0011363 biolink:AnatomicalEntity cranial lymph vasculature A lymph vasculature that is part of a head. ZFA:0005298|TAO:0005298|FMA:224562 hp.json set of lymphatic vessels of head|cranial lymphatics|cranial lymph vessel|set of cranial lymphatic vessels|cranial lymph vessels http://purl.obolibrary.org/obo/UBERON_0011363 UBERON:0011362 biolink:AnatomicalEntity cranial blood vasculature A blood vasculature that is part of a head. ZFA:0005297|TAO:0005297 hp.json set of blood vessels of head|cranial blood vessel|cranial blood vessels http://purl.obolibrary.org/obo/UBERON_0011362 UBERON:0035313 biolink:AnatomicalEntity posterior wall of laryngopharynx NCIT:C12249|FMA:55063 hp.json posterior wall of hypopharynx http://purl.obolibrary.org/obo/UBERON_0035313 UBERON:0011368 biolink:AnatomicalEntity brachiocephalic muscle The brachiocephalicus is a long and flat, complex of muscles that extends from the lower half of the humeral shaft to the head and neck. The muscle divides into two parts at the clavicular intersection. This is also the point of origin for all the muscles that make up the brachiocephalicus. This point is situated just cranial to the shoulder. The two main sections are the cleidobrachialis which is distal to the clavicular intersection and the cleidocephalicus which extends proximally to the clavivular intersection. The cleidocephalicus can also be divided into the pars cervicalis, which inserts on the broad aponeurosis, over the fibrous raphe of the cranial half of the neck. The other part, the pars mastoideus inserts on the mastoid process of the temporal bone via a strong tendon. The cleidobrachialis extends distally from the clavicular intersection and inserts on the cranial edge of the distal half of the humerus. The tendon that inserts the cleidobrachialis lies between the brachialis muscle and the biceps brachii. As a result of the brachiocephalicus spanning a large region it has the ability to provide a number of actions. These include extending the shoulder joint, protracts the limb, provides lateral movement of the head and allows the neck to be depressed. EMAPA:37685 hp.json brachiocephalicus http://purl.obolibrary.org/obo/UBERON_0011368 UBERON:0011366 biolink:AnatomicalEntity cleidobrachialis muscle This muscle makes up the distal segment of the brachiocephalicus. It originates at the clavicular tendon but functionally, from the head and neck through the cleidocervicalis. It inserts at the distal end of the cranial border of the humerus, where it lies between the biceps brachii medially and the brachialis laterally. The muscle partly covers the pectoral muscles at their insertions. In conjunction with the cleidocervicalis, it advances the limb, extends the shoulder and causes lateral movement of the head and neck. MA:0002274|EMAPA:37686|UMLS:C1707411|NCIT:C52892 hp.json cleidobrachial|cleidobrachialis|cleidobrachial muscle http://purl.obolibrary.org/obo/UBERON_0011366 CHEBI:16947 biolink:ChemicalSubstance citrate(3-) A tricarboxylic acid trianion, obtained by deprotonation of the three carboxy groups of citric acid. CAS:126-44-3|Beilstein:1884707|Reaxys:1884707|KEGG:C00158|Gmelin:4239|PDBeChem:FLC hp.json cit|citrate|2-hydroxypropane-1,2,3-tricarboxylate|CITRATE ANION|2-hydroxy-1,2,3-propanetricarboxylate|2-hydroxy-1,2,3-propanetricarboxylate(3-)|cit(3-)|2-hydroxy-1,2,3-propanetricarboxylic acid, ion(3-)|2-hydroxytricarballylate http://purl.obolibrary.org/obo/CHEBI_16947 3_STAR UBERON:0035307 biolink:AnatomicalEntity branch of vertebral artery FMA:76259|NCIT:C33867 hp.json vertebral arterial branch http://purl.obolibrary.org/obo/UBERON_0035307 HP:0011546 biolink:PhenotypicFeature Abnormal atrioventricular connection An abnormality of the circulatory connection between atria and ventricles. SNOMEDCT_US:253274005|UMLS:C0344612 hp.json Abnormal atrioventricular connexion http://purl.obolibrary.org/obo/HP_0011546 HP:0011547 biolink:PhenotypicFeature Absent left sided atrioventricular connection A defect where there is no connection between the left atrium and left ventricle. UMLS:C0344629|SNOMEDCT_US:253290005 hp.json Absent left sided atrioventricular connexion http://purl.obolibrary.org/obo/HP_0011547 HP:0011548 biolink:PhenotypicFeature Absent right sided atrioventricular connection A defect where there is no connection between the right atrium and right ventricle. SNOMEDCT_US:253285007|UMLS:C0344624 hp.json Absent right sided atrioventricular connexion http://purl.obolibrary.org/obo/HP_0011548 HP:0011549 biolink:PhenotypicFeature Univentricular heart with absent left sided atrioventricular connection UMLS:C4023305 hp.json Univentricular heart with absent left sided atrioventricular connexion http://purl.obolibrary.org/obo/HP_0011549 UBERON:0001949 biolink:AnatomicalEntity gingival epithelium A stratified squamous epithelium consisting of a basal layer; it is keratinized or parakeratinized[BTO]. FMA:62423|BTO:0004998|UMLS:C1179154|MA:0001576|NCIT:C49239 hp.json epithelium of gingiva|epithelial tissue of gingiva|gingiva epithelial tissue|gingiva epithelium http://purl.obolibrary.org/obo/UBERON_0001949 UBERON:0001948 biolink:AnatomicalEntity regional part of spinal cord A multi-tissue structure that is part of a spinal cord. SCTID:244437008|NCIT:C33969|UMLS:C1268166|BIRNLEX:1496 hp.json spinal cord part http://purl.obolibrary.org/obo/UBERON_0001948 non_informative UBERON:0001943 biolink:AnatomicalEntity midbrain tegmentum Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. MAT:0000452|ZFA:0000160|DHBA:12195|UMLS:C0039441|EHDAA2:0004475|XAO:0004271|VHOG:0001367|BTO:0003388|TAO:0000160|FMA:62393|BIRNLEX:1200|SCTID:362392007|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=491|EMAPA:18215|Wikipedia:Midbrain_tegmentum|MA:0000212|HBA:9002|EFO:0000921|BAMS:MTg hp.json tegmentum|tegmentum of midbrain|tegmentum mesencephali|tegmentum mesencephali|tegmentum mesencephalicum|MTg|mesencephalic tegmentum http://purl.obolibrary.org/obo/UBERON_0001943 efo_slim|human_reference_atlas|uberon_slim|vertebrate_core|pheno_slim CHEBI:26386 biolink:ChemicalSubstance purine nucleobase A nucleobase whose skeleton is derived from purine. KEGG:C15587 hp.json purine nucleobases|a purine nucleobase|purine bases|purine nucleobase http://purl.obolibrary.org/obo/CHEBI_26386 3_STAR GO:0014848 biolink:BiologicalProcess urinary tract smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary tract. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary tract consists of organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra. hp.json http://purl.obolibrary.org/obo/GO_0014848 UBERON:0001950 biolink:AnatomicalEntity neocortex An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN). UMLS:C0175173|GAID:677|BAMS:ISO|FMA:62429|BAMS:Iso-cortex|MA:0002754|BAMS:NCX|PBA:294021746|BTO:0000920|MBA:315|EMAPA:32842|Wikipedia:Neocortex|MESH:D019579|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=757|DHBA:10160|EHDAA2:0004662|EMAPA:35589|BIRNLEX:2547 hp.json nonolfactory cortex|neocortex (isocortex)|isocortex (sensu lato)|homogenetic cortex|cerebral neocortex|iso-cortex|homotypical cortex|isocortex|neopallium|nucleus hypoglossalis|neopallial cortex http://purl.obolibrary.org/obo/UBERON_0001950 uberon_slim|pheno_slim UBERON:8410056 biolink:AnatomicalEntity capillary of anorectum A capillary that is part of the anorectum. hp.json blood vessel capillary of anorectum http://purl.obolibrary.org/obo/UBERON_8410056 UBERON:8410057 biolink:AnatomicalEntity capillary of colon A capillary that is part of the colon. hp.json blood vessel capillary of colon http://purl.obolibrary.org/obo/UBERON_8410057 OBO:uberon/core#transitively_connected_to biolink:NamedThing transitively_connected to hp.json http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to UBERON:0001951 biolink:AnatomicalEntity epithelium of nasopharynx An epithelium that is part of a nasopharynx [Automatically generated definition]. VHOG:0001038|NCIT:C49263|CALOHA:TS-0662|MA:0001865|EMAPA:17672|BTO:0004480|UMLS:C1179157|EHDAA:7090|FMA:62452|EHDAA2:0001241 hp.json nasal part of pharynx epithelial tissue|nasopharyngeal epithelium|rhinopharynx epithelium|rhinopharynx epithelial tissue|nasal part of pharynx epithelium|nasopharynx epithelium|epithelial tissue of rhinopharynx|epithelial tissue of nasopharynx|epithelium of nasal part of pharynx|epithelium of rhinopharynx|epithelial tissue of nasal part of pharynx|nasopharynx epithelial tissue http://purl.obolibrary.org/obo/UBERON_0001951 GO:0048199 biolink:BiologicalProcess vesicle targeting, to, from or within Golgi The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. hp.json Golgi vesicle targeting|dictyosome vesicle targeting|vesicle targeting, to, from or within dictyosome http://purl.obolibrary.org/obo/GO_0048199 UBERON:8410050 biolink:AnatomicalEntity anorectum A subdivision of the digestive tract in humans that includes the rectum, the anal canal and the anus. hp.json anorectal canal http://purl.obolibrary.org/obo/UBERON_8410050 UBERON:8410051 biolink:AnatomicalEntity lymphatic vessel of colon A lymphatic vessel located in the colon. hp.json http://purl.obolibrary.org/obo/UBERON_8410051 GO:0048193 biolink:BiologicalProcess Golgi vesicle transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. hp.json Golgi-derived vesicle transport http://purl.obolibrary.org/obo/GO_0048193 goslim_yeast GO:0097120 biolink:BiologicalProcess receptor localization to synapse Any process in which a receptor is transported to, and/or maintained at the synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. hp.json receptor localisation to synapse http://purl.obolibrary.org/obo/GO_0097120 GO:0014859 biolink:BiologicalProcess negative regulation of skeletal muscle cell proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of skeletal muscle cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_0014859 GO:0014858 biolink:BiologicalProcess positive regulation of skeletal muscle cell proliferation Any process that activates or increases the frequency, rate or extent of skeletal muscle cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_0014858 GO:0014857 biolink:BiologicalProcess regulation of skeletal muscle cell proliferation Any process that modulates the frequency, rate or extent of skeletal muscle cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_0014857 GO:0061154 biolink:BiologicalProcess endothelial tube morphogenesis The process in which the anatomical structures of a tube are generated and organized from an endothelium. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells. hp.json http://purl.obolibrary.org/obo/GO_0061154 GO:0061155 biolink:BiologicalProcess pulmonary artery endothelial tube morphogenesis The process in which the anatomical structures of a tube are generated and organized from the pulmonary artery endothelium. An pulmonary artery endothelium is an epithelium that lines the pulmonary artery. hp.json http://purl.obolibrary.org/obo/GO_0061155 GO:0061156 biolink:BiologicalProcess pulmonary artery morphogenesis The process in which the anatomical structures of the pulmonary artery are generated and organized. The pulmonary artery is the artery that carries blood from the heart to the lungs. hp.json http://purl.obolibrary.org/obo/GO_0061156 GO:0014856 biolink:BiologicalProcess skeletal muscle cell proliferation The multiplication or reproduction of skeletal muscle cells, resulting in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/GO_0014856 GO:0014855 biolink:BiologicalProcess striated muscle cell proliferation The multiplication or reproduction of striated muscle cells, resulting in the expansion of a cell population. Striated muscles contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. hp.json http://purl.obolibrary.org/obo/GO_0014855 UBERON:8410048 biolink:AnatomicalEntity venule of colon A venule located in the colon. hp.json http://purl.obolibrary.org/obo/UBERON_8410048 UBERON:8410041 biolink:AnatomicalEntity venule of lymph node A venule that is part of a lymph node. hp.json lymph node venule http://purl.obolibrary.org/obo/UBERON_8410041 human_reference_atlas UBERON:8410042 biolink:AnatomicalEntity arteriole of lymph node An arteriole that is part of a lymph node. hp.json lymph node arteriole http://purl.obolibrary.org/obo/UBERON_8410042 human_reference_atlas UBERON:8410043 biolink:AnatomicalEntity bronchus submucosal gland A submucosal gland located in a bronchus. hp.json bronchial submucosal gland|airway submucosal gland|submucosal bronchial gland|submucosal bronchus gland http://purl.obolibrary.org/obo/UBERON_8410043 GO:0014827 biolink:BiologicalProcess intestine smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the intestine. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The intestine is the section of the alimentary canal from the stomach to the anal canal. It includes the large intestine and small intestine. hp.json http://purl.obolibrary.org/obo/GO_0014827 GO:0061181 biolink:BiologicalProcess regulation of chondrocyte development Any process that modulates the rate, frequency, or extent of the process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate. hp.json http://purl.obolibrary.org/obo/GO_0061181 GO:0061182 biolink:BiologicalProcess negative regulation of chondrocyte development Any process that decreases the rate, frequency, or extent of the process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate. hp.json http://purl.obolibrary.org/obo/GO_0061182 GO:0061183 biolink:BiologicalProcess regulation of dermatome development Any process that modulates the rate, frequency, or extent of the progression of the dermatome over time, from its initial formation to the mature structure. The dermatome is the portion of a somite that will form skin. hp.json http://purl.obolibrary.org/obo/GO_0061183 GO:0061184 biolink:BiologicalProcess positive regulation of dermatome development Any process that increases the rate, frequency, or extent of the progression of the dermatome over time, from its initial formation to the mature structure. The dermatome is the portion of a somite that will form skin. hp.json http://purl.obolibrary.org/obo/GO_0061184 GO:0061185 biolink:BiologicalProcess negative regulation of dermatome development Any process that decreases the rate, frequency, or extent of the progression of the dermatome over time, from its initial formation to the mature structure. The dermatome is the portion of a somite that will form skin. hp.json http://purl.obolibrary.org/obo/GO_0061185 CHEBI:26361 biolink:ChemicalSubstance protoporphyrins hp.json http://purl.obolibrary.org/obo/CHEBI_26361 1_STAR GO:0061189 biolink:BiologicalProcess positive regulation of sclerotome development Any process that increases the rate, frequency, or extent of the progression of the sclerotome over time, from its initial formation to the mature structure. The sclerotome is the portion of the somite that will give rise to a vertebra. hp.json http://purl.obolibrary.org/obo/GO_0061189 GO:0014821 biolink:BiologicalProcess phasic smooth muscle contraction A process in which force is generated within phasic smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the phasic smooth muscle, the muscle contraction occurs without an ordered sarcomeric structure. Phasic smooth muscle contraction occurs in a series of discrete contractions and relaxations. hp.json http://purl.obolibrary.org/obo/GO_0014821 UBERON:8410034 biolink:AnatomicalEntity lymph node artery An artery that enters the lymph node at the hilum and branches into smaller arterioles. hp.json hilar artery of lymph node|artery of lymph node http://purl.obolibrary.org/obo/UBERON_8410034 human_reference_atlas UBERON:8410035 biolink:AnatomicalEntity medullary arteriole of lymph node An arteriole that arises from the hilar artery of a lymph node and radiates centrifugally, branching in the medulla. hp.json arteriole of medulla of lymph node http://purl.obolibrary.org/obo/UBERON_8410035 human_reference_atlas UBERON:8410036 biolink:AnatomicalEntity medullary venule of lymph node Medullary venules are a continuation of high endothelial venules which condense repeatedly in the interfollicular cortex and peripheral deep cortical unit and then transition to medullary venules at the corticomedullary junction. The medullary venules condense and return centripetally to the hilar vein. hp.json venule of medulla of lymph node http://purl.obolibrary.org/obo/UBERON_8410036 human_reference_atlas UBERON:0001913 biolink:AnatomicalEntity milk An emulsion of fat globules within a fluid that is secreted by the mammary gland during lactation. EV:0100126|galen:Milk|MA:0002552|NCIT:C13401|ENVO:02000031|MAT:0000056|UMLS:C1511310|CALOHA:TS-0636|FMA:62100|MIAA:0000056|GAID:1230|MESH:D008892|OpenCyc:Mx4rvVjGZJwpEbGdrcN5Y29ycA|VHOG:0001263|EMAPA:36540|BTO:0000868 hp.json mammary gland milk http://purl.obolibrary.org/obo/UBERON_0001913 pheno_slim|uberon_slim UBERON:0001916 biolink:AnatomicalEntity endothelium of arteriole An endothelium that is part of an arteriole [Automatically generated definition]. EMAPA:36286|NCIT:C49192|UMLS:C1179024|FMA:62115|MA:0000705 hp.json arteriole endothelium http://purl.obolibrary.org/obo/UBERON_0001916 UBERON:0001915 biolink:AnatomicalEntity endothelium of capillary An endothelium that is part of a capillary [Automatically generated definition]. FMA:62114|EMAPA:36292|NCIT:C49215|BTO:0004954|MA:0000711|CALOHA:TS-0112|UMLS:C0006904 hp.json blood capillary endothelium|capillary vessel endothelium|capillary endothelium|endothelium of capillary vessel|endothelium of blood capillary http://purl.obolibrary.org/obo/UBERON_0001915 UBERON:8410032 biolink:AnatomicalEntity trabecular sinus of lymph node The trabecular sinus is the lymph-filled space outside the trabeculae between lobules of the lymph node. This is a continuation of the subcapsular sinus which receives the afferent vessels and is present beneath the capsule. This space is traversed by both reticular fibers and cells in the lymph. hp.json lymph node trabecular sinus http://purl.obolibrary.org/obo/UBERON_8410032 human_reference_atlas UBERON:0001912 biolink:AnatomicalEntity lobule of mammary gland Organ component of the mammary gland which consists of an aggregate of mammary alveoli that communicate with a lobular lactiferous duct.[FMA]. FMA:62090|MA:0000793|EMAPA:36634 hp.json lactiferous lobule|mammary acinus|lactiferous gland lobule|lobule of mammary gland|mammary gland lobule|acinus of mammary gland|lactiferous acinus|lobule of lactiferous gland http://purl.obolibrary.org/obo/UBERON_0001912 pheno_slim|uberon_slim UBERON:0001911 biolink:AnatomicalEntity mammary gland A specialized accessory gland of the skin of mammals that secretes milk. The gland is typically only developed in females, and regresses in males. EFO:0000854|NCIT:C12367|EV:0100125|UMLS:C0929301|EMAPA:17759|MAT:0000073|OpenCyc:Mx4rvVjVq5wpEbGdrcN5Y29ycA|VHOG:0000398|FMA:286452|BTO:0000817|MESH:D008321|CALOHA:TS-0595|MIAA:0000073|MA:0000145 hp.json lactiferous gland|glandula mammaria|glandula mammaria|mammae|dug|mamma|milk patch|lobe of breast|Brustdruese|lobe of mammary gland http://purl.obolibrary.org/obo/UBERON_0001911 organ_slim|pheno_slim|efo_slim|uberon_slim UBERON:8410033 biolink:AnatomicalEntity lymph node vein A vein where lymph node venules condense and which exits at the lymph node hilum. It is also called hilar vein. hp.json hilar vein of lymph node|vein of lymph node http://purl.obolibrary.org/obo/UBERON_8410033 human_reference_atlas CHEBI:26375 biolink:ChemicalSubstance pterins hp.json http://purl.obolibrary.org/obo/CHEBI_26375 3_STAR UBERON:0001918 biolink:AnatomicalEntity endothelium of venule An endothelium that is part of a venule [Automatically generated definition]. NCIT:C49319|FMA:62117|MA:0000716|EMAPA:36290|UMLS:C1179026 hp.json venule endothelium http://purl.obolibrary.org/obo/UBERON_0001918 UBERON:0001917 biolink:AnatomicalEntity endothelium of artery An endothelium that is part of an artery [Automatically generated definition]. NCIT:C49194|FMA:62116|UMLS:C1179025|MA:0000707|BTO:0004757|AAO:0011013|VHOG:0001215|EMAPA:35148|XAO:0000357 hp.json artery endothelium|arterial endothelium http://purl.obolibrary.org/obo/UBERON_0001917 UBERON:0001919 biolink:AnatomicalEntity endothelium of vein An endothelium that is part of a vein [Automatically generated definition]. EMAPA:36288|FMA:62118|NCIT:C49317|BTO:0004756|VHOG:0001216|AAO:0011110|XAO:0000358|MA:0000712|UMLS:C1179027 hp.json venous endothelium|vein endothelium|veinous endothelium http://purl.obolibrary.org/obo/UBERON_0001919 CHEBI:26373 biolink:ChemicalSubstance pteridines hp.json http://purl.obolibrary.org/obo/CHEBI_26373 3_STAR GO:0014832 biolink:BiologicalProcess urinary bladder smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary bladder. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary bladder is a musculomembranous sac along the urinary tract. hp.json http://purl.obolibrary.org/obo/GO_0014832 GO:0014831 biolink:BiologicalProcess gastro-intestinal system smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the gastro-intestinal system. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The gastro-intestinal system generally refers to the digestive structures stretching from the mouth to anus, but does not include the accessory glandular organs (liver, pancreas and biliary tract). hp.json http://purl.obolibrary.org/obo/GO_0014831 UBERON:8410024 biolink:AnatomicalEntity intestinal junction An anatomical junction between two parts of the intestine. hp.json junction of intestine http://purl.obolibrary.org/obo/UBERON_8410024 GO:0002820 biolink:BiologicalProcess negative regulation of adaptive immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response. hp.json down regulation of adaptive immune response|inhibition of adaptive immune response|down-regulation of adaptive immune response|downregulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0002820 GO:0002821 biolink:BiologicalProcess positive regulation of adaptive immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. hp.json upregulation of adaptive immune response|stimulation of adaptive immune response|up regulation of adaptive immune response|up-regulation of adaptive immune response|activation of adaptive immune response http://purl.obolibrary.org/obo/GO_0002821 GO:0002822 biolink:BiologicalProcess regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. hp.json http://purl.obolibrary.org/obo/GO_0002822 UBERON:0001987 biolink:AnatomicalEntity placenta Organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. VHOG:0001266|UMLS:C0032043|GAID:379|EV:0100119|MESH:D010920|EFO:0001407|FMA:63934|SCTID:181455002|MA:0000386|MAT:0000279|Wikipedia:Placenta|MIAA:0000279|EMAPA:35689|CALOHA:TS-0799|OpenCyc:Mx4rvv4zZ5wpEbGdrcN5Y29ycA|BTO:0001078|NCIT:C13272 hp.json eutherian placenta|allantoic placenta http://purl.obolibrary.org/obo/UBERON_0001987 uberon_slim|organ_slim|pheno_slim|efo_slim GO:0097152 biolink:BiologicalProcess mesenchymal cell apoptotic process Any apoptotic process in a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. hp.json mesenchymal cell apoptosis http://purl.obolibrary.org/obo/GO_0097152 UBERON:0001986 biolink:AnatomicalEntity endothelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]. BTO:0000393|SCTID:27168002|MESH:D004727|GAID:520|UMLS:C0014257|EFO:0002548|galen:Endothelium|NCIT:C12481|CALOHA:TS-0278|FMA:63916 hp.json http://purl.obolibrary.org/obo/UBERON_0001986 uberon_slim|efo_slim|human_reference_atlas CHEBI:26347 biolink:ChemicalSubstance prostanoid The family of natural prostaglandins and prostaglandin-like compounds including prostacyclins and thromboxanes. hp.json prostanoids|prostanoid|prostanoids http://purl.obolibrary.org/obo/CHEBI_26347 3_STAR UBERON:0001988 biolink:AnatomicalEntity feces Portion of semisolid bodily waste discharged through the anus[MW,modified]. MIAA:0000053|CALOHA:TS-2345|Wikipedia:Feces|OpenCyc:Mx4rvVjJMZwpEbGdrcN5Y29ycA|FMA:64183|UMLS:C0015733|ENVO:00002003|NCIT:C13234|MA:0002509|GAID:1199|MAT:0000053|galen:Feces|MESH:D005243|BTO:0000440 hp.json ordure|portion of feces|fecal matter|frass|portion of fecal matter|portion of excrement|spoor|guano|piece of shit|portion of dung|dung|cow dung|droppings|cow pat|piece of shit|stool|guano|spraint|excrement|frass|portion of guano|portionem cacas|portion of scat|scat|fecal material|portion of fecal material|portion of faeces|faeces|spraint|fewmet|cow dung|excreta|fewmet|cow pat http://purl.obolibrary.org/obo/UBERON_0001988 uberon_slim|pheno_slim CHEBI:26348 biolink:ChemicalSubstance prosthetic group A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. hp.json prosthetic group|prosthetic groups|groupe prosthetique http://purl.obolibrary.org/obo/CHEBI_26348 3_STAR GO:0014805 biolink:BiologicalProcess smooth muscle adaptation Any process in which smooth muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. These adaptive events occur in both muscle fibers and associated structures (motoneurons and capillaries), and they involve alterations in regulatory mechanisms, contractile properties and metabolic capacities. hp.json smooth muscle plasticity http://purl.obolibrary.org/obo/GO_0014805 UBERON:0011313 biolink:AnatomicalEntity posterior subdivision of masseter hp.json masseter, posterior http://purl.obolibrary.org/obo/UBERON_0011313 GO:0014807 biolink:BiologicalProcess regulation of somitogenesis Any process that modulates the frequency, rate or extent of somitogenesis. hp.json http://purl.obolibrary.org/obo/GO_0014807 UBERON:0011306 biolink:AnatomicalEntity deep part of temporalis The deep temporalis muscle is a separable part of the temporalis muscle that that attaches to the bony wall of the braincase and is deep to the superficial temporalis. MFMO:0000086 hp.json medial temporal|temporalis pars profunda|temporalis lamina profunda|temporalis pars posterior|temporal muscle posterior part|temporalis bbHauptmassebb|temporalis posterior head|posterior temporal http://purl.obolibrary.org/obo/UBERON_0011306 UBERON:0001994 biolink:AnatomicalEntity hyaline cartilage tissue Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. VSAO:0000094|UMLS:C0225362|EMAPA:35414|FMA:64783|MA:0000109|NCIT:C32746|XAO:0004029 hp.json hyaline cartilage|chondroid cartilage http://purl.obolibrary.org/obo/UBERON_0001994 pheno_slim|uberon_slim UBERON:0001996 biolink:AnatomicalEntity elastic cartilage tissue Cartilage tissue that is flexible and contains abundant elastic fibers. MA:0000485|VSAO:0000091|NCIT:C32494|XAO:0004197|FMA:64785|UMLS:C0682559|MA:0000107 hp.json yellow elastic cartilage tissue|reticular cartilage|elastic cartilage tissue|yellow elastic cartilage|elastic cartilage|yellow cartilage http://purl.obolibrary.org/obo/UBERON_0001996 pheno_slim|uberon_slim UBERON:0001995 biolink:AnatomicalEntity fibrocartilage Cartilage tissue intermediate between hyaline cartilage and dense connective tissue; contains of abundant collagen fibers; chondrocytes often arranged in columns. XAO:0004028|NCIT:C32599|VSAO:0000103|FMA:64784|MA:0000108|UMLS:C0684077|MESH:D051445|galen:Fibrocartilage hp.json fibrocartilage tissue|stratified cartilage tissue http://purl.obolibrary.org/obo/UBERON_0001995 pheno_slim|uberon_slim CHEBI:38323 biolink:ChemicalSubstance cholinergic drug Any drug used for its actions on cholinergic systems. Included here are agonists and antagonists, drugs that affect the life cycle of acetylcholine, and drugs that affect the survival of cholinergic neurons. hp.json cholinergic agent|cholinomimetic|cholinergic drugs http://purl.obolibrary.org/obo/CHEBI_38323 3_STAR GO:0002823 biolink:BiologicalProcess negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. hp.json http://purl.obolibrary.org/obo/GO_0002823 GO:0002824 biolink:BiologicalProcess positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. hp.json http://purl.obolibrary.org/obo/GO_0002824 GO:0097159 biolink:MolecularActivity organic cyclic compound binding Binding to an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. hp.json http://purl.obolibrary.org/obo/GO_0097159 UBERON:0001979 biolink:AnatomicalEntity venule One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins. MA:0000071|Wikipedia:Venule|FMA:63130|ZFA:0005315|EMAPA:35917|BTO:0002626|UMLS:C0042520|MESH:D014699|TAO:0005315|SCTID:341687009|VHOG:0001765|NCIT:C12818 hp.json venula|venula http://purl.obolibrary.org/obo/UBERON_0001979 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas GO:0002831 biolink:BiologicalProcess regulation of response to biotic stimulus Any process that modulates the frequency, rate, or extent of a response to biotic stimulus. hp.json http://purl.obolibrary.org/obo/GO_0002831 gocheck_do_not_manually_annotate GO:0002832 biolink:BiologicalProcess negative regulation of response to biotic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus. hp.json down-regulation of response to biotic stimulus|down regulation of response to biotic stimulus|inhibition of response to biotic stimulus|downregulation of response to biotic stimulus http://purl.obolibrary.org/obo/GO_0002832 gocheck_do_not_manually_annotate GO:0002833 biolink:BiologicalProcess positive regulation of response to biotic stimulus Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus. hp.json activation of response to biotic stimulus|stimulation of response to biotic stimulus|upregulation of response to biotic stimulus|up-regulation of response to biotic stimulus|up regulation of response to biotic stimulus http://purl.obolibrary.org/obo/GO_0002833 gocheck_do_not_manually_annotate UBERON:0001976 biolink:AnatomicalEntity epithelium of esophagus The epithelial layer that lines the luminal space of the esophagus. FMA:63063|ZFA:0001499|EFO:0003041|MA:0001565|TAO:0001499|UMLS:C1179544|BTO:0001578|EHDAA2:0001287|EMAPA:16835|CALOHA:TS-0698|NCIT:C49221 hp.json epithelial tissue of oesophagus|epithelial tissue of gullet|epithelium of oesophagus|epithelium of gullet|gullet epithelium|esophagus epithelium|epithelial tissue of esophagus|oesophagus epithelial tissue|esophagus epithelial tissue|gullet epithelial tissue|esophageal epithelium|oesophagus epithelium http://purl.obolibrary.org/obo/UBERON_0001976 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0001975 biolink:AnatomicalEntity serosa of esophagus A serous membrane that is part of a esophagus [Automatically generated definition]. EMAPA:35322|MA:0001571|FMA:63057 hp.json gullet serosa|esophagus serosa|serous membrane of esophagus|tunica serosa oesophageae|serous membrane of oesophagus|serous membrane of gullet|serosa of abdominal part of esophagus|oesophagus serosa|serous coat of oesophagus|oesophagus serous membrane|serosa of gullet|gullet serous membrane|serosa of oesophagus|esophagus serous membrane http://purl.obolibrary.org/obo/UBERON_0001975 UBERON:0001978 biolink:AnatomicalEntity parenchyma of pancreas MA:0000724|FMA:63120|VHOG:0001430|EMAPA:32925 hp.json pancreas parenchyma|pancreatic parenchyma http://purl.obolibrary.org/obo/UBERON_0001978 human_reference_atlas GO:0061190 biolink:BiologicalProcess regulation of sclerotome development Any process that modulates the rate, frequency, or extent of the progression of the sclerotome over time, from its initial formation to the mature structure. The sclerotome is the portion of the somite that will give rise to a vertebra. hp.json http://purl.obolibrary.org/obo/GO_0061190 UBERON:0001977 biolink:AnatomicalEntity blood serum The portion of blood plasma that excludes clotting factors. MESH:D044967|EHDAA2:0004728|MA:0002502|FMA:63083|EMAPA:35770|UMLS:C0229671|NCIT:C13325|BTO:0001239|CALOHA:TS-0923|BTO:0000133 hp.json serum http://purl.obolibrary.org/obo/UBERON_0001977 uberon_slim|pheno_slim GO:0097164 biolink:BiologicalProcess ammonium ion metabolic process The chemical reactions and pathways involving the ammonium ion. hp.json ammonium ion metabolism|ammonium metabolic process http://purl.obolibrary.org/obo/GO_0097164 GO:0061193 biolink:BiologicalProcess taste bud development The progression of the taste bud over time, from its formation to the mature state. The taste bud is a specialized area of the tongue that contains taste receptors. hp.json http://purl.obolibrary.org/obo/GO_0061193 GO:0061194 biolink:BiologicalProcess taste bud morphogenesis The process in which the anatomical structures of the taste bud are generated and organized. The taste bud is a specialized area of the tongue that contains taste receptors. hp.json http://purl.obolibrary.org/obo/GO_0061194 GO:0061195 biolink:BiologicalProcess taste bud formation The developmental process pertaining to the initial formation of the taste bud from unspecified parts. The taste bud is a specialized area of the tongue that contains taste receptors. hp.json http://purl.obolibrary.org/obo/GO_0061195 GO:0014819 biolink:BiologicalProcess regulation of skeletal muscle contraction Any process that modulates the frequency, rate or extent of skeletal muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_0014819 UBERON:0011300 biolink:AnatomicalEntity gray matter of telencephalon A portion of gray matter that is part of a telencephalon. FMA:83911|BIRNLEX:1067 hp.json predominantly gray regional part of telencephalon http://purl.obolibrary.org/obo/UBERON_0011300 CHEBI:38337 biolink:ChemicalSubstance pyrimidone A pyrimidine carrying one or more oxo substituents. hp.json pyrimidones http://purl.obolibrary.org/obo/CHEBI_38337 3_STAR GO:0014812 biolink:BiologicalProcess muscle cell migration The orderly movement of a muscle cell from one site to another, often during the development of a multicellular organism. hp.json http://purl.obolibrary.org/obo/GO_0014812 UBERON:0001982 biolink:AnatomicalEntity capillary Any of the smallest blood vessels connecting arterioles with venules. EMAPA:35198|Wikipedia:Capillary|OpenCyc:Mx4rvWEU-5wpEbGdrcN5Y29ycA|NCIT:C12685|MA:0000065|EV:0100035|UMLS:C0935624|AAO:0010252|NLXANAT:090902|ZFA:0005250|MESH:D002196|EFO:0001906|BTO:0002045|CALOHA:TS-2006|XAO:0000116|TAO:0005250|FMA:63194|VHOG:0001253 hp.json blood capillary|capillary vessel http://purl.obolibrary.org/obo/UBERON_0001982 vertebrate_core|pheno_slim|efo_slim|human_reference_atlas|uberon_slim UBERON:0001985 biolink:AnatomicalEntity corneal endothelium A monolayer of specialized, flattened, mitochondria-rich cells that lines the posterior surface of the cornea and faces the anterior chamber of the eye[WP]. MESH:D004728|ZFA:0001687|GAID:891|CALOHA:TS-0172|EMAPA:35935|MA:0001242|Wikipedia:Corneal_endothelium|SCTID:368827009|FMA:63882|TAO:0002186|UMLS:C0014259|NCIT:C12707 hp.json epithelium posterius corneae|endothelium of cornea|cornea endothelium|epithelium posterius corneae http://purl.obolibrary.org/obo/UBERON_0001985 vertebrate_core|pheno_slim|human_reference_atlas|uberon_slim UBERON:0001981 biolink:AnatomicalEntity blood vessel A vessel through which blood circulates in the body. Wikipedia:Blood_vessel|NCIT:C12679|VHOG:0001250|ZFA:0005314|FMA:50722|XAO:0001011|TAO:0002137|SCTID:361097006|AEO:0000207|AAO:0011004|EMAPA:32743|MESH:D001808|CALOHA:TS-0080|EHDAA:240|BTO:0001102|OpenCyc:Mx4rvVjxlpwpEbGdrcN5Y29ycA|MA:0000060|NLXANAT:090901|MAT:0000393|EHDAA2:0003252|EFO:0000817|EMAPA:35993|UMLS:C0005847|FMA:63183|GAID:169 hp.json vascular tree organ region|vas sanguineum|vas sanguineum|region of vascular tree organ|vascular element http://purl.obolibrary.org/obo/UBERON_0001981 vertebrate_core|pheno_slim|efo_slim|uberon_slim UBERON:0001980 biolink:AnatomicalEntity arteriole The smallest division of the artery located between the muscular arteries and the capillaries[GO]. FMA:63182|Wikipedia:Arteriole|TAO:0002138|BTO:0001997|ZFA:0005255|MA:0000063|NCIT:C12672|AAO:0010253|UMLS:C0003847|SCTID:337724002|VHOG:0001763|EMAPA:35146|MESH:D001160 hp.json arteriola|arteriola http://purl.obolibrary.org/obo/UBERON_0001980 vertebrate_core|pheno_slim|uberon_slim UBERON:0001969 biolink:AnatomicalEntity blood plasma The liquid component of blood, in which erythrocytes are suspended. MAT:0000052|BTO:0000131|EFO:0001905|MIAA:0000052|MA:0002501|EMAPA:35690|Wikipedia:Blood_plasma|NCIT:C13356|UMLS:C0032105|OpenCyc:Mx4rEg4ZYrIbEduAAAAOpmP6tw|GAID:1178|CALOHA:TS-0800|FMA:62970|MESH:D010949 hp.json portion of plasma|plasma|blood plasm|portion of blood plasma http://purl.obolibrary.org/obo/UBERON_0001969 efo_slim|uberon_slim|pheno_slim UBERON:8410081 biolink:AnatomicalEntity blood microvessel Any of the smallest blood vessels where blood circulates within organ tissues. Microvessels include terminal arterioles, metarterioles, capillaries, and venules (but exclude lymphatic capillaries). Arterioles carry oxygenated blood to the capillaries, and blood flows out of the capillaries through venules into veins. hp.json microvasculature|microvessel http://purl.obolibrary.org/obo/UBERON_8410081 UBERON:0001968 biolink:AnatomicalEntity semen Organism substance that is composed of sperm cells suspended in seminal fluid. OpenCyc:Mx4rvgC-zpwpEbGdrcN5Y29ycA|BTO:0001230|NCIT:C13713|UMLS:C2756969|FMA:62966|CALOHA:TS-0917|MA:0002522|GAID:1169|UMLS:C1518159|MESH:D012661|NCIT:C13277|EMAPA:31488 hp.json ejaculate|sperm http://purl.obolibrary.org/obo/UBERON_0001968 uberon_slim|pheno_slim UBERON:8410080 biolink:AnatomicalEntity red bone marrow of sternum Red bone marrow located in the sternum. hp.json sternum red bone marrow http://purl.obolibrary.org/obo/UBERON_8410080 CHEBI:38304 biolink:ChemicalSubstance diazolidine hp.json diazolidines http://purl.obolibrary.org/obo/CHEBI_38304 3_STAR UBERON:0001972 biolink:AnatomicalEntity submucosa of esophagus A submucosa that is part of a esophagus [Automatically generated definition]. FMA:62997|BTO:0002109|SCTID:362128009|EMAPA:35325|MA:0002724 hp.json submucosa of esophagus|oesophagus submucosa|gullet submucosa|esophagus submucosa|tela submucosa oesophageae|tela submucosa of esophagus|tela submucosa esophagi|submucosa of oesophagus|submucosa of gullet|tela submucosa (oesophagus)|esophageal submucosa|tela submucosa oesophagi|submucous layer of esophagus http://purl.obolibrary.org/obo/UBERON_0001972 UBERON:0001971 biolink:AnatomicalEntity gastric juice . GAID:1160|Wikipedia:Gastric_juice|UMLS:C0017133|galen:GastricJuice|BTO:0000501|NCIT:C32661|FMA:62972|MA:0002519|MESH:D005750 hp.json stomach secretion|succus gastricus http://purl.obolibrary.org/obo/UBERON_0001971 pheno_slim|uberon_slim UBERON:8410079 biolink:AnatomicalEntity red bone marrow of iliac crest Red bone marrow located in an iliac crest. hp.json iliac crest red bone marrow http://purl.obolibrary.org/obo/UBERON_8410079 UBERON:0001974 biolink:AnatomicalEntity lamina propria of esophagus A lamina propria that is part of a esophagus [Automatically generated definition]. MA:0001568|FMA:63050|NCIT:C49223|EMAPA:26987|UMLS:C1707949 hp.json lamina propria of oesophagus|esophageal lamina propria|esophagus lamina propria mucosae|gullet lamina propria mucosae|lamina propria of gullet|oesophagus lamina propria mucosae|lamina propria mucosa of oesophagus|gullet lamina propria|lamina propria mucosa of gullet|esophagus lamina propria|lamina propria mucosa of esophagus|oesophagus lamina propria|oesophagus lamina propria mucosa|lamina propria mucosae of oesophagus|lamina propria mucosae of esophagus|lamina propria mucosae of gullet|esophagus lamina propria mucosa|gullet lamina propria mucosa http://purl.obolibrary.org/obo/UBERON_0001974 UBERON:0001970 biolink:AnatomicalEntity bile Vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. NCIT:C13192|galen:Bile|MA:0002513|MESH:D001646|ENVO:02000023|CALOHA:TS-1172|GAID:1157|FMA:62971|BTO:0000121|UMLS:C0005388|ZFA:0005857 hp.json fel|gall http://purl.obolibrary.org/obo/UBERON_0001970 pheno_slim|uberon_slim UBERON:0001958 biolink:AnatomicalEntity terminal bronchiole epithelium An epithelium that lines a terminal bronchiole. FMA:62794|UMLS:C1179400|NCIT:C33755|MA:0001774|EMAPA:36283 hp.json epithelium of bronchiolus terminalis|epithelial tissue of terminal bronchiole|bronchiolus terminalis epithelium|terminal bronchiole epithelium|epithelium of terminal bronchiole|terminal bronchiole epithelial tissue|bronchiolus terminalis epithelial tissue|epithelial tissue of bronchiolus terminalis http://purl.obolibrary.org/obo/UBERON_0001958 CHEBI:26338 biolink:ChemicalSubstance prostaglandins E hp.json PGE http://purl.obolibrary.org/obo/CHEBI_26338 3_STAR UBERON:0001957 biolink:AnatomicalEntity submucosa of bronchus A submucosa that is part of a bronchus [Automatically generated definition]. MA:0001837|UMLS:C0225601|EMAPA:37449|BTO:0002108|FMA:62653|NCIT:C49214 hp.json bronchi submucosa|bronchial trunk submucosa|bronchus submucosa|bronchial submucosa|tela submucosa bronchi|submucous layer of bronchi|submucosa of bronchi|submucosa of bronchial trunk http://purl.obolibrary.org/obo/UBERON_0001957 UBERON:0001959 biolink:AnatomicalEntity white pulp of spleen The parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies. UMLS:C0229686|FMA:62805|EMAPA:35809|CALOHA:TS-1264|MA:0000762|NCIT:C12993 hp.json pulpa alba|noduli lymphoidei splenici|spleen white pulp|white pulp|splenic white pulp http://purl.obolibrary.org/obo/UBERON_0001959 pheno_slim|human_reference_atlas|uberon_slim UBERON:0001954 biolink:AnatomicalEntity Ammon's horn A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. MA:0000191|BAMS:CA|EMAPA:32772|MBA:375|FMA:62493|GAID:623|VHOG:0001177|EV:0100180|BM:Tel-CAM|PBA:128012244|DMBA:16124|BTO:0003705|CALOHA:TS-0460|OpenCyc:Mx4rv3piFJwpEbGdrcN5Y29ycA|UMLS:C0019564|EMAPA:32845|UMLS:C0019564|NCIT:C12444|MAT:0000114|MESH:D006624|DHBA:10296|BIRNLEX:721|NCIT:C32374|MIAA:0000114|EFO:0000530|EHDAA2:0004443 hp.json hippocampus|hippocampus major|cornu ammonis|hippocampus proprius|Ammons horn|Ammon horn fields|ammon gyrus|hippocampus proper|ammon horn|Ammon's horn http://purl.obolibrary.org/obo/UBERON_0001954 efo_slim|uberon_slim|pheno_slim UBERON:0001956 biolink:AnatomicalEntity cartilage of bronchus The hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles[MP]. MA:0001835|FMA:62649|NCIT:C49209|UMLS:C0225604|EMAPA:35192 hp.json bronchial cartilage ring|bronchi cartilage|cartilagines bronchiales|cartilage of bronchi|bronchial trunk cartilage|cartilage of bronchial trunk|bronchus cartilage|bronchial cartilage http://purl.obolibrary.org/obo/UBERON_0001956 pheno_slim UBERON:8410077 biolink:AnatomicalEntity airway submucosal gland A submucosal gland found in a respiratory tract. EFO:0010666 hp.json respiratory tract submucosal gland|submucosal gland of respiratory tract http://purl.obolibrary.org/obo/UBERON_8410077 CHEBI:26333 biolink:ChemicalSubstance prostaglandin Naturally occurring compounds derived from the parent C20 acid, prostanoic acid. LIPID_MAPS_class:LMFA0301|CAS:11000-26-3 hp.json prostaglandins|prostaglandins|prostaglandin http://purl.obolibrary.org/obo/CHEBI_26333 3_STAR CHEBI:38316 biolink:ChemicalSubstance pyrimidinecarboxylate anion hp.json pyrimidinecarboxylate anions http://purl.obolibrary.org/obo/CHEBI_38316 3_STAR CHEBI:38313 biolink:ChemicalSubstance diazines Any organic heterocyclic compound containing a benzene ring in which two of the C-H fragments have been replaced by isolobal nitrogens (the diazine parent structure). hp.json http://purl.obolibrary.org/obo/CHEBI_38313 3_STAR UBERON:0001961 biolink:AnatomicalEntity mucosa-associated lymphoid tissue Diffuse system of small concentrations of lymphoid tissue found in various sites of the body such as the gastrointestinal tract, thyroid, breast, lung, salivary glands, eye, and skin[WP]. Mucosal-associated lymphoid tissue is typically found as nodules associated with mucosal epithelia with distinct internal structures including B- and T-zones for the activation of lymphocytes[GO]. NCIT:C12910|UMLS:C0599921|MA:0000140|FMA:62819 hp.json mucosa-associated lymphoid tissue|epithelio-lymphoid tissue|MALT|mucosa associated lymphatic tissue|mucosal-associated lymphoid tissue|mucosa associated lymphoid tissue|mucosal-associated lymphatic tissue http://purl.obolibrary.org/obo/UBERON_0001961 uberon_slim|pheno_slim|human_reference_atlas UBERON:0001960 biolink:AnatomicalEntity periarterial lymphatic sheath The area of the spleen in which T cells surround the central arteriole. MA:0000765|FMA:62810|EMAPA:37750 hp.json periarterial lymphoid sheath|T cell domain of the splenic white pulp|PALS|spleen periarteriolar lymphatic sheath|periarteriolar sheath|splenic periarteriolar lymphoid sheath http://purl.obolibrary.org/obo/UBERON_0001960 pheno_slim|human_reference_atlas UBERON:8410068 biolink:AnatomicalEntity capillary of small intestine A capillary that is part of a small intestine. hp.json small intestine capillary|blood vessel capillary of small intestine http://purl.obolibrary.org/obo/UBERON_8410068 location_grouping UBERON:0001963 biolink:AnatomicalEntity bronchial-associated lymphoid tissue A diffuse collection of lymphpoid cells that participate in airway immune responses. UMLS:C1179418|MA:0000135|FMA:62821|NCIT:C32234 hp.json BALT|bronchus associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001963 pheno_slim|human_reference_atlas UBERON:0001962 biolink:AnatomicalEntity gut-associated lymphoid tissue Mucosa-associated lymphoid tissue in digestive tract. includes Peyer's patches, appendix, and solitary lymph nodules[GO]. NCIT:C12936|MA:0000136|UMLS:C0596638|FMA:62820 hp.json gut associated lymphoid tissue|GALT http://purl.obolibrary.org/obo/UBERON_0001962 uberon_slim|pheno_slim|human_reference_atlas GO:0002819 biolink:BiologicalProcess regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. hp.json http://purl.obolibrary.org/obo/GO_0002819 GO:1903509 biolink:BiologicalProcess liposaccharide metabolic process The chemical reactions and pathways involving liposaccharide. hp.json liposaccharide metabolism http://purl.obolibrary.org/obo/GO_1903509 CL:0011027 biolink:Cell skeletal muscle fibroblast Any fibroblast that is part of skeletal muscle tissue. hp.json skeleton muscle fibroblast http://purl.obolibrary.org/obo/CL_0011027 CL:0011026 biolink:Cell progenitor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. hp.json http://purl.obolibrary.org/obo/CL_0011026 CL:0011025 biolink:Cell exhausted T cell hp.json Tex cell|An effector T cell that displays impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity) and has limited proliferative potential. http://purl.obolibrary.org/obo/CL_0011025 CL:0011022 biolink:Cell fibroblast of skin of back A fibroblast that is part of skin of back. hp.json http://purl.obolibrary.org/obo/CL_0011022 CHEBI:63299 biolink:ChemicalSubstance carbohydrate derivative Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. hp.json derivatised carbohydrate|derivatized carbohydrates|derivatized carbohydrate|carbohydrate derivatives|derivatised carbohydrates http://purl.obolibrary.org/obo/CHEBI_63299 3_STAR GO:0048103 biolink:BiologicalProcess somatic stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. hp.json somatic stem cell renewal http://purl.obolibrary.org/obo/GO_0048103 CL:0011021 biolink:Cell fibroblast of upper back skin A fibroblast that is part of upper back skin. hp.json http://purl.obolibrary.org/obo/CL_0011021 CL:0011012 biolink:Cell neural crest cell A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. hp.json http://purl.obolibrary.org/obo/CL_0011012 GO:1903510 biolink:BiologicalProcess mucopolysaccharide metabolic process The chemical reactions and pathways involving mucopolysaccharide. hp.json mucopolysaccharide metabolism http://purl.obolibrary.org/obo/GO_1903510 CL:0011019 biolink:Cell mesothelial cell of epicardium A mesothelial cell that is part of the epicardium. hp.json http://purl.obolibrary.org/obo/CL_0011019 CL:0011005 biolink:Cell GABAergic interneuron An interneuron that uses GABA as a vesicular neurotransmitter. These interneurons are inhibitory hp.json GABAergic inhibitory interneuron http://purl.obolibrary.org/obo/CL_0011005 GO:1903524 biolink:BiologicalProcess positive regulation of blood circulation Any process that activates or increases the frequency, rate or extent of blood circulation. hp.json upregulation of hemolymph circulation|up-regulation of blood circulation|activation of hemolymph circulation|up regulation of blood circulation|activation of blood circulation|up-regulation of hemolymph circulation|up regulation of hemolymph circulation|upregulation of blood circulation|positive regulation of hemolymph circulation http://purl.obolibrary.org/obo/GO_1903524 GO:1903523 biolink:BiologicalProcess negative regulation of blood circulation Any process that stops, prevents or reduces the frequency, rate or extent of blood circulation. hp.json down-regulation of hemolymph circulation|negative regulation of hemolymph circulation|inhibition of blood circulation|downregulation of blood circulation|down regulation of hemolymph circulation|downregulation of hemolymph circulation|down-regulation of blood circulation|inhibition of hemolymph circulation|down regulation of blood circulation http://purl.obolibrary.org/obo/GO_1903523 CL:0011001 biolink:Cell spinal cord motor neuron A motor neuron that passes from the spinal cord toward or to a muscle and conducts an impulse that causes movement. hp.json http://purl.obolibrary.org/obo/CL_0011001 GO:1903522 biolink:BiologicalProcess regulation of blood circulation Any process that modulates the frequency, rate or extent of blood circulation. hp.json regulation of hemolymph circulation http://purl.obolibrary.org/obo/GO_1903522 GO:0061100 biolink:BiologicalProcess lung neuroendocrine cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuroendocrine cell of the lung epithelium. hp.json http://purl.obolibrary.org/obo/GO_0061100 PR:000001483 biolink:Protein low affinity immunoglobulin gamma Fc region receptor III An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. hp.json CD16|FcRIII|IgG Fc receptor III|Fc-gamma RIII|Fcgr3 http://purl.obolibrary.org/obo/PR_000001483 GO:0061101 biolink:BiologicalProcess neuroendocrine cell differentiation The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of a neuroendocrine cell. A neuroendocrine cell is a cell that receives input form a neuron which controls the secretion of an endocrine substance. hp.json http://purl.obolibrary.org/obo/GO_0061101 GO:0061102 biolink:BiologicalProcess stomach neuroendocrine cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuroendocrine cell of the stomach epithelium. hp.json gastric neuroendocrine cell differentiation http://purl.obolibrary.org/obo/GO_0061102 GO:0061105 biolink:BiologicalProcess regulation of stomach neuroendocrine cell differentiation Any process that modulates the rate, frequency or extent of the differentiation of a neuroendocrine cell in the stomach. hp.json http://purl.obolibrary.org/obo/GO_0061105 GO:0061106 biolink:BiologicalProcess negative regulation of stomach neuroendocrine cell differentiation Any process that decreases the rate, frequency or extent of the differentiation of a neuroendocrine cell in the stomach. hp.json http://purl.obolibrary.org/obo/GO_0061106 CL:0011007 biolink:Cell paraxial cell A cell in the area of mesoderm in the neurulating embryo that flanks and forms simultaneously with the neural tube. The cells of this region give rise to somites. hp.json paraxial mesoderm cell|presomitic mesoderm cell|somitic mesoderm cell http://purl.obolibrary.org/obo/CL_0011007 GO:0051784 biolink:BiologicalProcess negative regulation of nuclear division Any process that stops, prevents, or reduces the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. hp.json inhibition of nuclear division|down-regulation of nuclear division|downregulation of nuclear division|down regulation of nuclear division http://purl.obolibrary.org/obo/GO_0051784 GO:0048132 biolink:BiologicalProcess female germ-line stem cell asymmetric division The self-renewing division of a germline stem cell in the female gonad, to produce a daughter stem cell and a daughter germ cell, which will divide to form the female gametes. hp.json female germ-line stem cell renewal http://purl.obolibrary.org/obo/GO_0048132 GO:0051785 biolink:BiologicalProcess positive regulation of nuclear division Any process that activates or increases the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. hp.json upregulation of nuclear division|stimulation of nuclear division|up regulation of nuclear division|up-regulation of nuclear division|activation of nuclear division http://purl.obolibrary.org/obo/GO_0051785 GO:1903538 biolink:BiologicalProcess regulation of meiotic cell cycle process involved in oocyte maturation Any process that modulates the frequency, rate or extent of meiotic cell cycle process involved in oocyte maturation. hp.json regulation of meiosis involved in oocyte maturation http://purl.obolibrary.org/obo/GO_1903538 GO:1903537 biolink:BiologicalProcess meiotic cell cycle process involved in oocyte maturation Any meiotic cell cycle process that is involved in oocyte maturation. hp.json meiosis involved in oocyte maturation http://purl.obolibrary.org/obo/GO_1903537 GO:1903532 biolink:BiologicalProcess positive regulation of secretion by cell Any process that activates or increases the frequency, rate or extent of secretion by cell. hp.json positive regulation of cellular secretion|up regulation of secretion by cell|up regulation of cellular secretion|activation of secretion by cell|up-regulation of cellular secretion|activation of cellular secretion|upregulation of secretion by cell|upregulation of cellular secretion|up-regulation of secretion by cell http://purl.obolibrary.org/obo/GO_1903532 GO:1903531 biolink:BiologicalProcess negative regulation of secretion by cell Any process that stops, prevents or reduces the frequency, rate or extent of secretion by cell. hp.json downregulation of cellular secretion|down-regulation of secretion by cell|down regulation of cellular secretion|down regulation of secretion by cell|inhibition of cellular secretion|down-regulation of cellular secretion|negative regulation of cellular secretion|inhibition of secretion by cell|downregulation of secretion by cell http://purl.obolibrary.org/obo/GO_1903531 GO:1903530 biolink:BiologicalProcess regulation of secretion by cell Any process that modulates the frequency, rate or extent of secretion by cell. hp.json regulation of cellular secretion http://purl.obolibrary.org/obo/GO_1903530 GO:0051782 biolink:BiologicalProcess negative regulation of cell division Any process that stops, prevents, or reduces the frequency, rate or extent of cell division. hp.json down-regulation of cell division|down regulation of cell division|inhibition of cell division|downregulation of cell division http://purl.obolibrary.org/obo/GO_0051782 UBERON:4300226 biolink:AnatomicalEntity forelimb bud mesenchyme Mesenchyme that is part of a forelimb bud. hp.json http://purl.obolibrary.org/obo/UBERON_4300226 GO:0051783 biolink:BiologicalProcess regulation of nuclear division Any process that modulates the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. hp.json http://purl.obolibrary.org/obo/GO_0051783 UBERON:4300227 biolink:AnatomicalEntity hindlimb bud mesenchyme Mesenchyme that is part of a hindlimb bud. hp.json http://purl.obolibrary.org/obo/UBERON_4300227 GO:0051781 biolink:BiologicalProcess positive regulation of cell division Any process that activates or increases the frequency, rate or extent of cell division. hp.json up regulation of cell division|activation of cell division|stimulation of cell division|upregulation of cell division|up-regulation of cell division http://purl.obolibrary.org/obo/GO_0051781 GO:0048145 biolink:BiologicalProcess regulation of fibroblast proliferation Any process that modulates the frequency, rate or extent of multiplication or reproduction of fibroblast cells. hp.json http://purl.obolibrary.org/obo/GO_0048145 GO:0048144 biolink:BiologicalProcess fibroblast proliferation The multiplication or reproduction of fibroblast cells, resulting in the expansion of the fibroblast population. hp.json http://purl.obolibrary.org/obo/GO_0048144 GO:0002784 biolink:BiologicalProcess regulation of antimicrobial peptide production Any process that modulates the frequency, rate, or extent of antimicrobial peptide production. hp.json http://purl.obolibrary.org/obo/GO_0002784 GO:0002785 biolink:BiologicalProcess negative regulation of antimicrobial peptide production Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production. hp.json down regulation of antimicrobial peptide production|inhibition of antimicrobial peptide production|down-regulation of antimicrobial peptide production|downregulation of antimicrobial peptide production http://purl.obolibrary.org/obo/GO_0002785 GO:1903543 biolink:BiologicalProcess positive regulation of exosomal secretion Any process that activates or increases the frequency, rate or extent of exosomal secretion. hp.json positive regulation of exosomal protein secretion|upregulation of extracellular vesicular exosome secretion|positive regulation of exosomal secretory pathway|positive regulation of secretion of exosome|up regulation of exosomal protein secretion|up regulation of exosomal secretory pathway|up regulation of secretion of exosome|up-regulation of exosomal protein secretion|upregulation of exosomal secretion|activation of exosomal secretory pathway|up-regulation of exosomal secretory pathway|up-regulation of secretion of exosome|activation of secretion of exosome|up-regulation of extracellular vesicular exosome secretion|up regulation of extracellular vesicular exosome secretion|up regulation of exosomal secretion|activation of exosomal protein secretion|upregulation of exosomal protein secretion|activation of extracellular vesicular exosome secretion|upregulation of exosomal secretory pathway|positive regulation of extracellular vesicular exosome secretion|upregulation of secretion of exosome|up-regulation of exosomal secretion|activation of exosomal secretion http://purl.obolibrary.org/obo/GO_1903543 GO:1903542 biolink:BiologicalProcess negative regulation of exosomal secretion Any process that stops, prevents or reduces the frequency, rate or extent of exosomal secretion. hp.json negative regulation of extracellular vesicular exosome secretion|inhibition of exosomal protein secretion|down-regulation of extracellular vesicular exosome secretion|down regulation of exosomal secretion|inhibition of exosomal secretion|down regulation of extracellular vesicular exosome secretion|down-regulation of exosomal secretion|downregulation of exosomal protein secretion|downregulation of exosomal secretory pathway|downregulation of secretion of exosome|inhibition of extracellular vesicular exosome secretion|downregulation of extracellular vesicular exosome secretion|down regulation of exosomal secretory pathway|down regulation of exosomal protein secretion|down regulation of secretion of exosome|inhibition of exosomal secretory pathway|inhibition of secretion of exosome|negative regulation of exosomal protein secretion|down-regulation of exosomal secretory pathway|negative regulation of exosomal secretory pathway|down-regulation of exosomal protein secretion|negative regulation of secretion of exosome|downregulation of exosomal secretion|down-regulation of secretion of exosome http://purl.obolibrary.org/obo/GO_1903542 GO:0048147 biolink:BiologicalProcess negative regulation of fibroblast proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of multiplication or reproduction of fibroblast cells. hp.json downregulation of fibroblast proliferation|down regulation of fibroblast proliferation|inhibition of fibroblast proliferation|down-regulation of fibroblast proliferation http://purl.obolibrary.org/obo/GO_0048147 GO:0048146 biolink:BiologicalProcess positive regulation of fibroblast proliferation Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells. hp.json activation of fibroblast proliferation|upregulation of fibroblast proliferation|up regulation of fibroblast proliferation|stimulation of fibroblast proliferation|up-regulation of fibroblast proliferation http://purl.obolibrary.org/obo/GO_0048146 GO:1903541 biolink:BiologicalProcess regulation of exosomal secretion Any process that modulates the frequency, rate or extent of exosomal secretion. hp.json regulation of extracellular vesicular exosome secretion|regulation of exosomal secretory pathway|regulation of exosomal protein secretion|regulation of secretion of exosome http://purl.obolibrary.org/obo/GO_1903541 GO:1903551 biolink:BiologicalProcess regulation of extracellular exosome assembly Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly. hp.json regulation of extracellular vesicular exosome assembly http://purl.obolibrary.org/obo/GO_1903551 OBO:MAXO_0010220 biolink:NamedThing prostate ultrasonography The use of ultrasound to produce images of structures in the prostate gland. hp.json prostate gland ultrasound examination|prostate gland medical ultrasound|prostate gland ultrasound imaging procedure|prostate gland diagnostic sonography|sonography of prostate gland|ultrasonography of prostate gland|prostate gland sonography|prostate gland ultrasound procedure http://purl.obolibrary.org/obo/MAXO_0010220 OBO:MAXO_0010222 biolink:NamedThing neurosonology The use of ultrasound to produce images of structures in the brain. hp.json brain ultrasound procedure|brain ultrasound examination|brain medical ultrasound|ultrasonography of brain|brain ultrasound imaging procedure|brain diagnostic sonography|sonography of brain|brain sonography http://purl.obolibrary.org/obo/MAXO_0010222 UBERON:8410015 biolink:AnatomicalEntity arteriole of colon An arteriole located in the colon. hp.json http://purl.obolibrary.org/obo/UBERON_8410015 GO:0099738 biolink:CellularComponent cell cortex region The complete extent of cell cortex that underlies some some region of the plasma membrane. hp.json perimembrane region http://purl.obolibrary.org/obo/GO_0099738 gocheck_do_not_annotate UBERON:8410016 biolink:AnatomicalEntity descending sigmoid junction The anatomical junction between the descending colon and the sigmoid colon. hp.json descending-sigmoid colon junction|descending-sigmoid junction|sigmoid junction http://purl.obolibrary.org/obo/UBERON_8410016 UBERON:8410017 biolink:AnatomicalEntity left colic vein A portal vein that drains the descending colon. It is a tributary of the inferior mesenteric vein, and follows the path of its corresponding artery, the left colic artery. FMA:15394 hp.json http://purl.obolibrary.org/obo/UBERON_8410017 UBERON:8410019 biolink:AnatomicalEntity jejuno-ileal junction The area where the jejunum ends and the ileum part of the intestine begins. Although there is no clear distinct section, the ileum is narrower and has smaller villi than the jejunum. hp.json jejunoileal junction http://purl.obolibrary.org/obo/UBERON_8410019 GO:0002793 biolink:BiologicalProcess positive regulation of peptide secretion Any process that activates or increases the frequency, rate, or extent of peptide secretion. hp.json up-regulation of peptide secretion|up regulation of peptide secretion|activation of peptide secretion|stimulation of peptide secretion|upregulation of peptide secretion http://purl.obolibrary.org/obo/GO_0002793 GO:0002794 biolink:BiologicalProcess regulation of antimicrobial peptide secretion Any process that modulates the frequency, rate, or extent of antimicrobial peptide secretion. hp.json http://purl.obolibrary.org/obo/GO_0002794 GO:0002795 biolink:BiologicalProcess negative regulation of antimicrobial peptide secretion Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion. hp.json down-regulation of antimicrobial peptide secretion|down regulation of antimicrobial peptide secretion|downregulation of antimicrobial peptide secretion|inhibition of antimicrobial peptide secretion http://purl.obolibrary.org/obo/GO_0002795 GO:0002796 biolink:BiologicalProcess positive regulation of antimicrobial peptide secretion Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion. hp.json up regulation of antimicrobial peptide secretion|activation of antimicrobial peptide secretion|stimulation of antimicrobial peptide secretion|upregulation of antimicrobial peptide secretion|up-regulation of antimicrobial peptide secretion http://purl.obolibrary.org/obo/GO_0002796 OBO:MAXO_0010212 biolink:NamedThing spleen ultrasonography The use of ultrasound to produce images of structures in the spleen. hp.json spleen diagnostic sonography|sonography of spleen|spleen ultrasound imaging procedure|ultrasonography of spleen|spleen sonography|spleen ultrasound procedure|spleen ultrasound examination|spleen medical ultrasound http://purl.obolibrary.org/obo/MAXO_0010212 OBO:MAXO_0010213 biolink:NamedThing stomach ultrasonography The use of ultrasound to produce images of structures in the stomach. hp.json stomach sonography|stomach ultrasound procedure|stomach ultrasound examination|stomach medical ultrasound|ultrasonography of stomach|stomach diagnostic sonography|stomach ultrasound imaging procedure|sonography of stomach http://purl.obolibrary.org/obo/MAXO_0010213 GO:0002790 biolink:BiologicalProcess peptide secretion The controlled release of a peptide from a cell or a tissue. hp.json http://purl.obolibrary.org/obo/GO_0002790 GO:0002791 biolink:BiologicalProcess regulation of peptide secretion Any process that modulates the frequency, rate, or extent of peptide secretion. hp.json http://purl.obolibrary.org/obo/GO_0002791 OBO:MAXO_0010214 biolink:NamedThing thyroid ultrasonography The use of ultrasound to produce images of structures in the thyroid gland. hp.json thyroid gland medical ultrasound|ultrasonography of thyroid gland|thyroid gland diagnostic sonography|thyroid gland ultrasound imaging procedure|sonography of thyroid gland|thyroid gland sonography|thyroid gland ultrasound procedure|thyroid gland ultrasound examination http://purl.obolibrary.org/obo/MAXO_0010214 OBO:MAXO_0010215 biolink:NamedThing bladder ultrasonography The use of ultrasound to produce images of structures in the urinary bladder. hp.json urinary bladder ultrasound imaging procedure|urinary bladder sonography|ultrasonography of urinary bladder|urinary bladder ultrasound procedure|urinary bladder diagnostic sonography|urinary bladder ultrasound examination|sonography of urinary bladder|urinary bladder medical ultrasound http://purl.obolibrary.org/obo/MAXO_0010215 GO:0002792 biolink:BiologicalProcess negative regulation of peptide secretion Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion. hp.json downregulation of peptide secretion|down-regulation of peptide secretion|down regulation of peptide secretion|inhibition of peptide secretion http://purl.obolibrary.org/obo/GO_0002792 OBO:MAXO_0010216 biolink:NamedThing vaginal ultrasonography The use of ultrasound to produce images of structures in the vagina. hp.json vagina ultrasound examination|vagina medical ultrasound|vagina diagnostic sonography|sonography of vagina|vagina ultrasound imaging procedure|ultrasonography of vagina|vagina sonography|vagina ultrasound procedure http://purl.obolibrary.org/obo/MAXO_0010216 OBO:MAXO_0010217 biolink:NamedThing renal ultrasonography The use of ultrasound to produce images of structures in the kidney. hp.json kidney ultrasound imaging procedure|kidney diagnostic sonography|sonography of kidney|kidney sonography|kidney ultrasound procedure|ultrasonography of kidney|kidney ultrasound examination|kidney medical ultrasound http://purl.obolibrary.org/obo/MAXO_0010217 OBO:MAXO_0010218 biolink:NamedThing carotid ultrasonography The use of ultrasound to produce images of structures in the carotid artery segment. hp.json ultrasonography of carotid artery segment|carotid artery segment sonography|carotid artery segment ultrasound procedure|carotid artery segment ultrasound examination|carotid artery segment medical ultrasound|sonography of carotid artery segment|carotid artery segment diagnostic sonography|carotid ultrasound imaging|carotid artery segment ultrasound imaging procedure http://purl.obolibrary.org/obo/MAXO_0010218 GO:1903553 biolink:BiologicalProcess positive regulation of extracellular exosome assembly Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly. hp.json upregulation of extracellular vesicular exosome assembly|positive regulation of extracellular vesicular exosome assembly|up regulation of extracellular vesicular exosome assembly|up-regulation of extracellular vesicular exosome assembly|activation of extracellular vesicular exosome assembly http://purl.obolibrary.org/obo/GO_1903553 OBO:MAXO_0010219 biolink:NamedThing pelvis ultrasonography The use of ultrasound to produce images of structures in the pelvic region of trunk. hp.json pelvic region of trunk ultrasound examination|pelvic region of trunk medical ultrasound|sonography of pelvic region of trunk|pelvic region of trunk diagnostic sonography|pelvic sonography|pelvis sonography|pelvic region of trunk ultrasound imaging procedure|ultrasonography of pelvic region of trunk|pelvic region of trunk sonography|pelvic region of trunk ultrasound procedure http://purl.obolibrary.org/obo/MAXO_0010219 GO:1903552 biolink:BiologicalProcess negative regulation of extracellular exosome assembly Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly. hp.json down regulation of extracellular vesicular exosome assembly|inhibition of extracellular vesicular exosome assembly|down-regulation of extracellular vesicular exosome assembly|downregulation of extracellular vesicular exosome assembly|negative regulation of extracellular vesicular exosome assembly http://purl.obolibrary.org/obo/GO_1903552 UBERON:8410009 biolink:AnatomicalEntity arteriole of anorectum An arteriole that is located in the anorectum. hp.json anorectum arteriole http://purl.obolibrary.org/obo/UBERON_8410009 GO:1903561 biolink:CellularComponent extracellular vesicle Any vesicle that is part of the extracellular region. hp.json microparticle http://purl.obolibrary.org/obo/GO_1903561 GO:0061116 biolink:BiologicalProcess ductus venosus closure The morphogenesis process in which the ductus venosus changes to no longer permit blood flow after birth. hp.json http://purl.obolibrary.org/obo/GO_0061116 GO:0061117 biolink:BiologicalProcess negative regulation of heart growth Any process that decreases the rate or extent of heart growth. Heart growth is the increase in size or mass of the heart. hp.json http://purl.obolibrary.org/obo/GO_0061117 OBO:MAXO_0010210 biolink:NamedThing rectal ultrasonography The use of ultrasound to produce images of structures in the rectum. hp.json sonography of rectum|rectum diagnostic sonography|rectum sonography|rectum ultrasound procedure|ultrasonography of rectum|rectum ultrasound examination|rectum medical ultrasound|rectum ultrasound imaging procedure http://purl.obolibrary.org/obo/MAXO_0010210 OBO:MAXO_0010211 biolink:NamedThing scrotal ultrasonography The use of ultrasound to produce images of structures in the scrotum. hp.json ultrasonography of scrotum|scrotum diagnostic sonography|scrotum ultrasound imaging procedure|sonography of scrotum|scrotum sonography|scrotum ultrasound procedure|scrotum ultrasound examination|scrotum medical ultrasound http://purl.obolibrary.org/obo/MAXO_0010211 UBERON:8410001 biolink:AnatomicalEntity small intestine venule Venule of villus of small intestine. hp.json venule of small intestine http://purl.obolibrary.org/obo/UBERON_8410001 location_grouping UBERON:8410002 biolink:AnatomicalEntity small intestine lymphatic vessel A lymphatic vessel that supplies the small intestine. hp.json lymphatic vessel of small intestine http://purl.obolibrary.org/obo/UBERON_8410002 location_grouping UBERON:8410004 biolink:AnatomicalEntity small intestine arteriole Arteriole of villus of small intestine. hp.json arteriole of small intestine|small intestine villus arteriole|arteriole of villus of small intestine http://purl.obolibrary.org/obo/UBERON_8410004 location_grouping GO:0000139 biolink:CellularComponent Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus. hp.json http://purl.obolibrary.org/obo/GO_0000139 UBERON:8410008 biolink:AnatomicalEntity venule of anorectum A venule that is located in the anorectum. hp.json anorectum venule http://purl.obolibrary.org/obo/UBERON_8410008 GO:0002760 biolink:BiologicalProcess positive regulation of antimicrobial humoral response Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response. hp.json up regulation of antimicrobial humoral response|stimulation of antimicrobial humoral response|up-regulation of antimicrobial humoral response|activation of antimicrobial humoral response|upregulation of antimicrobial humoral response http://purl.obolibrary.org/obo/GO_0002760 GO:0002761 biolink:BiologicalProcess regulation of myeloid leukocyte differentiation Any process that modulates the frequency, rate, or extent of myeloid leukocyte differentiation. hp.json http://purl.obolibrary.org/obo/GO_0002761 GO:0002762 biolink:BiologicalProcess negative regulation of myeloid leukocyte differentiation Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte differentiation. hp.json down-regulation of myeloid leukocyte differentiation|down regulation of myeloid leukocyte differentiation|inhibition of myeloid leukocyte differentiation|downregulation of myeloid leukocyte differentiation http://purl.obolibrary.org/obo/GO_0002762 UBERON:8410000 biolink:AnatomicalEntity duodeno-jejunal junction The anatomical junction between the duodenum and the jejunum. TA2:2952|FMA:15957|WikipediaVersioned:Duodenojejunal_flexure&oldid=937307798 hp.json flexura duodenojejunalis|duodeno-jejunal flexure|duodenojejunal flexure|duodenojejunal junction http://purl.obolibrary.org/obo/UBERON_8410000 human_reference_atlas GO:0002763 biolink:BiologicalProcess positive regulation of myeloid leukocyte differentiation Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation. hp.json activation of myeloid leukocyte differentiation|stimulation of myeloid leukocyte differentiation|upregulation of myeloid leukocyte differentiation|up-regulation of myeloid leukocyte differentiation|up regulation of myeloid leukocyte differentiation http://purl.obolibrary.org/obo/GO_0002763 GO:1903569 biolink:BiologicalProcess positive regulation of protein localization to ciliary membrane Any process that activates or increases the frequency, rate or extent of protein localization to ciliary membrane. hp.json positive regulation of protein localisation to ciliary membrane|positive regulation of protein localization in ciliary membrane|up regulation of protein localisation to ciliary membrane|upregulation of protein localization to ciliary membrane|up regulation of protein localization in ciliary membrane|activation of protein localisation to ciliary membrane|up-regulation of protein localisation to ciliary membrane|upregulation of protein localisation in ciliary membrane|up-regulation of protein localization in ciliary membrane|activation of protein localization in ciliary membrane|up regulation of protein localization to ciliary membrane|positive regulation of protein localisation in ciliary membrane|up-regulation of protein localization to ciliary membrane|up regulation of protein localisation in ciliary membrane|activation of protein localization to ciliary membrane|upregulation of protein localisation to ciliary membrane|upregulation of protein localization in ciliary membrane|up-regulation of protein localisation in ciliary membrane|activation of protein localisation in ciliary membrane http://purl.obolibrary.org/obo/GO_1903569 GO:1903568 biolink:BiologicalProcess negative regulation of protein localization to ciliary membrane Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to ciliary membrane. hp.json inhibition of protein localization to ciliary membrane|down-regulation of protein localization to ciliary membrane|down regulation of protein localisation in ciliary membrane|downregulation of protein localisation to ciliary membrane|inhibition of protein localisation in ciliary membrane|down-regulation of protein localisation in ciliary membrane|negative regulation of protein localisation in ciliary membrane|downregulation of protein localization in ciliary membrane|down regulation of protein localisation to ciliary membrane|down regulation of protein localization in ciliary membrane|inhibition of protein localisation to ciliary membrane|downregulation of protein localization to ciliary membrane|negative regulation of protein localisation to ciliary membrane|inhibition of protein localization in ciliary membrane|down-regulation of protein localisation to ciliary membrane|down-regulation of protein localization in ciliary membrane|negative regulation of protein localization in ciliary membrane|downregulation of protein localisation in ciliary membrane|down regulation of protein localization to ciliary membrane http://purl.obolibrary.org/obo/GO_1903568 CHEBI:26288 biolink:ChemicalSubstance propanediol hp.json http://purl.obolibrary.org/obo/CHEBI_26288 1_STAR GO:0061140 biolink:BiologicalProcess lung secretory cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a lung secretory cell. A lung secretory cell is a specialized epithelial cell of the lung that contains large secretory granules in its apical part. hp.json http://purl.obolibrary.org/obo/GO_0061140 GO:1903567 biolink:BiologicalProcess regulation of protein localization to ciliary membrane Any process that modulates the frequency, rate or extent of protein localization to ciliary membrane. hp.json regulation of protein localisation in ciliary membrane|regulation of protein localisation to ciliary membrane|regulation of protein localization in ciliary membrane http://purl.obolibrary.org/obo/GO_1903567 GO:1903566 biolink:BiologicalProcess positive regulation of protein localization to cilium Any process that activates or increases the frequency, rate or extent of protein localization to cilium. hp.json upregulation of protein localization to cilium|up regulation of protein localization to cilium|up-regulation of protein localization to cilium|activation of protein localization to cilium http://purl.obolibrary.org/obo/GO_1903566 GO:0061141 biolink:BiologicalProcess lung ciliated cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a lung ciliated cell. A lung ciliated cell is a specialized lung epithelial cell that contains cilia for moving substances released from lung secretory cells. hp.json http://purl.obolibrary.org/obo/GO_0061141 GO:1903565 biolink:BiologicalProcess negative regulation of protein localization to cilium Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium. hp.json down regulation of protein localization to cilium|inhibition of protein localization to cilium|down-regulation of protein localization to cilium|downregulation of protein localization to cilium http://purl.obolibrary.org/obo/GO_1903565 GO:1903564 biolink:BiologicalProcess regulation of protein localization to cilium Any process that modulates the frequency, rate or extent of protein localization to cilium. hp.json http://purl.obolibrary.org/obo/GO_1903564 CHEBI:26284 biolink:ChemicalSubstance propane-1,2-diols hp.json http://purl.obolibrary.org/obo/CHEBI_26284 1_STAR GO:0014742 biolink:BiologicalProcess positive regulation of muscle hypertrophy Any process that activates or increases the frequency, rate or extent of muscle hypertrophy. hp.json http://purl.obolibrary.org/obo/GO_0014742 GO:0014741 biolink:BiologicalProcess negative regulation of muscle hypertrophy Any process that stops, prevents, or reduces the frequency, rate, or extent of muscle hypertrophy. hp.json http://purl.obolibrary.org/obo/GO_0014741 GO:0061147 biolink:BiologicalProcess endocardial endothelium development The progression of the endocardial endothelium over time, from its initial formation to the mature structure. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. hp.json http://purl.obolibrary.org/obo/GO_0061147 GO:0061148 biolink:BiologicalProcess extracellular matrix organization involved in endocardium development A process which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix of the endocardium. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. hp.json extracellular matrix organisation involved in endocardium development http://purl.obolibrary.org/obo/GO_0061148 GO:0014745 biolink:BiologicalProcess negative regulation of muscle adaptation Any process that stops, prevents, or reduces the frequency, rate, or extent of muscle adaptation. hp.json negative regulation of muscle plasticity http://purl.obolibrary.org/obo/GO_0014745 GO:0014744 biolink:BiologicalProcess positive regulation of muscle adaptation Any process that activates or increases the frequency, rate or extent of muscle adaptation. hp.json positive regulation of muscle plasticity http://purl.obolibrary.org/obo/GO_0014744 GO:0014743 biolink:BiologicalProcess regulation of muscle hypertrophy Any process that modulates the frequency, rate or extent of muscle hypertrophy. hp.json http://purl.obolibrary.org/obo/GO_0014743 CHEBI:38264 biolink:ChemicalSubstance 2-amino-3-methylpentanoic acid A branched chain amino acid that consists of 3-methylpentanoic acid bearing an amino substituent at position 2. CAS:443-79-8|CAS:443-79-8|PMID:10944265|Reaxys:1721790|KEGG:C16434 hp.json 2-amino-3-methylpentanoic acid http://purl.obolibrary.org/obo/CHEBI_38264 3_STAR CHEBI:38263 biolink:ChemicalSubstance 2-amino-3-hydroxybutanoic acid An alpha-amino acid that is butanoic acid substituted by an amino group at position 2 and a hydroxy group at position 3. Beilstein:1098902 hp.json 2-amino-3-hydroxybutanoic acid http://purl.obolibrary.org/obo/CHEBI_38263 3_STAR CHEBI:38261 biolink:ChemicalSubstance imidazolidines hp.json http://purl.obolibrary.org/obo/CHEBI_38261 3_STAR GO:0002775 biolink:BiologicalProcess antimicrobial peptide production The synthesis or release of an antimicrobial peptide during an immune response, resulting in an increase in intracellular or extracellular levels. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. hp.json http://purl.obolibrary.org/obo/GO_0002775 gocheck_do_not_annotate GO:0002776 biolink:BiologicalProcess antimicrobial peptide secretion The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. hp.json http://purl.obolibrary.org/obo/GO_0002776 GO:1903579 biolink:BiologicalProcess negative regulation of ATP metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of ATP metabolic process. hp.json down-regulation of ATP metabolic process|downregulation of ATP metabolism|down regulation of ATP metabolic process|down regulation of ATP metabolism|downregulation of ATP metabolic process|inhibition of ATP metabolism|inhibition of ATP metabolic process|down-regulation of ATP metabolism|negative regulation of ATP metabolism http://purl.obolibrary.org/obo/GO_1903579 GO:1903578 biolink:BiologicalProcess regulation of ATP metabolic process Any process that modulates the frequency, rate or extent of ATP metabolic process. hp.json regulation of ATP metabolism http://purl.obolibrary.org/obo/GO_1903578 GO:1903580 biolink:BiologicalProcess positive regulation of ATP metabolic process Any process that activates or increases the frequency, rate or extent of ATP metabolic process. hp.json upregulation of ATP metabolic process|up-regulation of ATP metabolism|activation of ATP metabolism|up-regulation of ATP metabolic process|upregulation of ATP metabolism|up regulation of ATP metabolic process|positive regulation of ATP metabolism|activation of ATP metabolic process|up regulation of ATP metabolism http://purl.obolibrary.org/obo/GO_1903580 GO:0061138 biolink:BiologicalProcess morphogenesis of a branching epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0061138 CHEBI:38275 biolink:ChemicalSubstance pyrrolidinone hp.json pyrrolidinones http://purl.obolibrary.org/obo/CHEBI_38275 3_STAR dc:contributor biolink:NamedThing contributor http://purl.org/dc/elements/1.1/contributor hp.json http://purl.org/dc/elements/1.1/contributor HP:0011494 biolink:PhenotypicFeature Generalized opacification of the cornea Generalized reduced transparency of the stroma of the cornea. UMLS:C4021147 hp.json Generalised opacification of the cornea http://purl.obolibrary.org/obo/HP_0011494 HP:0011495 biolink:PhenotypicFeature Abnormal corneal epithelium morphology Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. UMLS:C4023326 hp.json Abnormality of corneal epithelium http://purl.obolibrary.org/obo/HP_0011495 HP:0011496 biolink:PhenotypicFeature Corneal neovascularization Ingrowth of new blood vessels into the cornea. UMLS:C0085109|MSH:D016510|SNOMEDCT_US:19161004 hp.json New blood vessel formation in cornea|Corneal pannus|Limbal neovascularization|Corneal neovascularisation|Corneal vascularization http://purl.obolibrary.org/obo/HP_0011496 HP:0011497 biolink:PhenotypicFeature Iris neovascularization New growth of vessels on the surface of the iris. UMLS:C0154916|SNOMEDCT_US:51995000 hp.json Neovascularization of the iris|New blood vessel formation in iris http://purl.obolibrary.org/obo/HP_0011497 OBO:MAXO_0000860 biolink:NamedThing assessment of fetal presentation A series of maneuvers to determine the position and presenting part of the fetus with respect to the maternal pelvic canal in preparation for labor and the birth process. NCIT:C92737 hp.json fetal position assessment|fetal presentation assessment http://purl.obolibrary.org/obo/MAXO_0000860 HP:0011498 biolink:PhenotypicFeature obsolete Partial aniridia hp.json http://purl.obolibrary.org/obo/HP_0011498 HP:0011499 biolink:PhenotypicFeature Mydriasis Abnormal dilatation of the iris. MSH:D015878|SNOMEDCT_US:37125009|UMLS:C0026961 hp.json Dilated pupil http://purl.obolibrary.org/obo/HP_0011499 hposlim_core CHEBI:89843 biolink:ChemicalSubstance methylsuccinic acid A racemate comprising equimolar amounts of (R)- and (S)-methylsuccinic acid CAS:498-21-5|MetaCyc:CPD-2461|LIPID_MAPS_instance:LMFA01170119|HMDB:HMDB0001844|Reaxys:1722946|CAS:498-21-5 hp.json rac-2-methylbutanedioic acid|Methylbutanedioic acid|2-methyl-butanedioic acid|Pyrotartaric acid|(RS)-methylsuccinic acid|Methyl Succinic acid|(+-)-methylsuccinic acid|2-methylbutanedioic acid|1,2-Propanedicarboxylic acid|(RS)-2-methylbutanedioic acid http://purl.obolibrary.org/obo/CHEBI_89843 3_STAR HP:0011490 biolink:PhenotypicFeature Abnormal Descemet membrane morphology Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. UMLS:C4023330 hp.json Abnormality of Descemet's membrane http://purl.obolibrary.org/obo/HP_0011490 HP:0011491 biolink:PhenotypicFeature Reduced number of corneal endothelial cells A reduction in the number of corneal endothelial cells. UMLS:C4023329 hp.json http://purl.obolibrary.org/obo/HP_0011491 HP:0011492 biolink:PhenotypicFeature Abnormal corneal stroma morphology An abnormality of the stroma of cornea, also known as the substantia propria of cornea. UMLS:C4023328 hp.json Abnormality of corneal stroma http://purl.obolibrary.org/obo/HP_0011492 HP:0011493 biolink:PhenotypicFeature Central opacification of the cornea Reduced transparency of the central portion of the corneal stroma. UMLS:C4023327 hp.json http://purl.obolibrary.org/obo/HP_0011493 OBO:MAXO_0000865 biolink:NamedThing protein measurement in blood The determination of the amount of protein present in blood. hp.json protein blood assessment|blood protein test http://purl.obolibrary.org/obo/MAXO_0000865 GO:0036194 biolink:CellularComponent muscle cell projection A prolongation or process extending from a muscle cell. A muscle cell is a mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. hp.json muscle arm|myopodia|myocyte projection http://purl.obolibrary.org/obo/GO_0036194 OBO:MAXO_0000862 biolink:NamedThing obsolete fetal Doppler velocimetry An antenatal ultrasonographic method that measures blood flow velocity through either maternal or fetal vessels. NCIT:C114080 hp.json Doppler velocimetry http://purl.obolibrary.org/obo/MAXO_0000862 OBO:MAXO_0000863 biolink:NamedThing fetal pulse oximetry A method to assess fetal oxygenation status during labor and delivery using a noninvasive reflectance pulse oximeter. hp.json http://purl.obolibrary.org/obo/MAXO_0000863 GO:0036195 biolink:CellularComponent muscle cell projection membrane The portion of the plasma membrane surrounding a muscle cell projection. hp.json http://purl.obolibrary.org/obo/GO_0036195 OBO:MAXO_0000869 biolink:NamedThing obstetric abdominal examination A systemic evaluation of the abdomen using visual inspection, palpation, and percussion during pregnancy to determine the health of the mother and fetus. hp.json pregnant abdomen examination|abdominal examination during pregnancy http://purl.obolibrary.org/obo/MAXO_0000869 HP:0011483 biolink:PhenotypicFeature Anterior synechiae of the anterior chamber Adhesions between the iris and the cornea. SNOMEDCT_US:70992005|UMLS:C0152252 hp.json Anterior synechiae|Iridocorneal synechia|Cornea-iris adhesion http://purl.obolibrary.org/obo/HP_0011483 HP:0011484 biolink:PhenotypicFeature Posterior synechiae of the anterior chamber Adhesions between the iris and the lens. SNOMEDCT_US:111512005|UMLS:C0152253 hp.json Iridolenticular adhesions|Posterior synechiae http://purl.obolibrary.org/obo/HP_0011484 HP:0011485 biolink:PhenotypicFeature Corneolenticular adhesion Developmental abnormality in which the lens and cornea are not separated. UMLS:C4023334 hp.json http://purl.obolibrary.org/obo/HP_0011485 HP:0011486 biolink:PhenotypicFeature Abnormality of corneal thickness An abnormal anteroposterior thickness of the cornea. UMLS:C4023333 hp.json http://purl.obolibrary.org/obo/HP_0011486 HP:0011487 biolink:PhenotypicFeature Increased corneal thickness A increased anteroposterior thickness of the cornea. UMLS:C3810451 hp.json http://purl.obolibrary.org/obo/HP_0011487 OBO:MAXO_0000850 biolink:NamedThing total protein measurement A quantitative measurement of total protein present in the sample, usually serum or urine. NCIT:C64858 hp.json http://purl.obolibrary.org/obo/MAXO_0000850 HP:0011488 biolink:PhenotypicFeature Abnormal corneal endothelium morphology Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. UMLS:C4023332 hp.json Abnormality of corneal endothelium http://purl.obolibrary.org/obo/HP_0011488 HP:0011489 biolink:PhenotypicFeature Abnormal migration of corneal endothelium Abnormal migration of corneal endothelium. UMLS:C4023331 hp.json http://purl.obolibrary.org/obo/HP_0011489 HP:0011480 biolink:PhenotypicFeature Unilateral microphthalmos A developmental anomaly characterized by abnormal smallness of one eye. UMLS:C3640024|UMLS:C4280323 hp.json Abnormally small eyeball on one side|Unilateral nanophthalmos http://purl.obolibrary.org/obo/HP_0011480 HP:0011481 biolink:PhenotypicFeature Abnormal lacrimal duct morphology An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. UMLS:C1858567 hp.json Abnormality of the lacrimal duct|Abnormality of the lacrimal canaliculus http://purl.obolibrary.org/obo/HP_0011481 HP:0011482 biolink:PhenotypicFeature Abnormal lacrimal gland morphology Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. UMLS:C4023336 hp.json Abnormality of the lacrimal gland http://purl.obolibrary.org/obo/HP_0011482 OBO:MAXO_0000859 biolink:NamedThing fetal examination A test or diagnostic examination to assess the health status and well being of the fetus. hp.json foetal examination|fetal assessment|fetal exam http://purl.obolibrary.org/obo/MAXO_0000859 OBO:MAXO_0000853 biolink:NamedThing serum total protein measurement A quantitative measurement of the total amount of protein present in a sample of serum. NCIT:C61033 hp.json http://purl.obolibrary.org/obo/MAXO_0000853 OBO:MAXO_0000854 biolink:NamedThing haptoglobin measurement The determination of the amount of haptoglobin present in the sample. NCIT:C74740 hp.json haptoglobin test|haptoglobin assessment|haptog measurement|haptoglobin protein measurement http://purl.obolibrary.org/obo/MAXO_0000854 OBO:MAXO_0000851 biolink:NamedThing urine protein measurement The determination of the amount of protein present in urine. NCIT:C74760 hp.json urine protein testing|urine protein test|protein urine assessment|urine protein assessment http://purl.obolibrary.org/obo/MAXO_0000851 OBO:MAXO_0000852 biolink:NamedThing 24-hour urine collection The measurement of the total protein present in a urine sample that was collected over a period of 24 hours. NCIT:C135567 hp.json 24 hour urine for total protein|24-hour urine protein test http://purl.obolibrary.org/obo/MAXO_0000852 OBO:MAXO_0000858 biolink:NamedThing glucose tolerance test A test that involves administration of a know quantity of glucose as a means of screening for glucose intolerance or diabetes mellitus. Typically a baseline (fasting plasma or serum glucose) is drawn prior to the administration of the glucose bolus. Serial plasma glucose levels are obtained (e.g. 30min, 1hr, 2hr, 3hr) and a plot of plasma glucose versus time is created. Comparison of these values against standardized results can be used in establishing the diagnosis of glucose intolerance or diabetes mellitus. NCIT:C45946 hp.json http://purl.obolibrary.org/obo/MAXO_0000858 OBO:MAXO_0000855 biolink:NamedThing hemoglobin electrophoresis test Determination of the types of normal or abnormal types of hemoglobin in the blood. Some types of hemoglobin are associated with sickle cell disease or anemia. hp.json sickle cell screen|Hb electrophoresis measurement|Hb ELP|hemoglobinopathy evaluation|hemoglobin evaluation|hemoglobin fractionation http://purl.obolibrary.org/obo/MAXO_0000855 OBO:MAXO_0000856 biolink:NamedThing serum PAPP-A measurement Determination of serum levels of pregnancy-associated plasma protein A (PAPP-A). Maternal levels of PAPP-A increase throughout the pregnancy. Low levels during pregnancy are associated with Down syndrome and trisomy 18. hp.json pregnancy-associated plasma protein A test http://purl.obolibrary.org/obo/MAXO_0000856 OBO:MAXO_0010209 biolink:NamedThing pancreatic ultrasonography The use of ultrasound to produce images of structures in the pancreas. hp.json pancreas medical ultrasound|pancreas ultrasound imaging procedure|pancreas sonography|pancreas diagnostic sonography|sonography of pancreas|pancreas ultrasound procedure|pancreas ultrasound examination|ultrasonography of pancreas http://purl.obolibrary.org/obo/MAXO_0010209 HP:0011472 biolink:PhenotypicFeature Abnormality of small intestinal villus morphology UMLS:C4023341 hp.json Abnormal shape of small intestinal villus http://purl.obolibrary.org/obo/HP_0011472 HP:0011473 biolink:PhenotypicFeature Villous atrophy The enteric villi are atrophic or absent. UMLS:C2677378|UMLS:C4020747|SNOMEDCT_US:75581001|UMLS:C0554101|SNOMEDCT_US:275403002|UMLS:C1833058|UMLS:C1859541|UMLS:C0267456 hp.json Villous degeneration|Atrophy of small intestinal villi|Duodenal villous atrophy|Variable degree of villous atrophy|Biopsy shows villous atrophy|Small intestine biopsy shows villous atrophy http://purl.obolibrary.org/obo/HP_0011473 hposlim_core HP:0011474 biolink:PhenotypicFeature Childhood onset sensorineural hearing impairment Sensorineural hearing impairment with childhood onset. UMLS:C4023340 hp.json http://purl.obolibrary.org/obo/HP_0011474 HP:0011475 biolink:PhenotypicFeature Persistent stapedial artery Persistence of the stapedial artery, which normally regresses during embryonic life. UMLS:C4023339 hp.json http://purl.obolibrary.org/obo/HP_0011475 HP:0011476 biolink:PhenotypicFeature Profound sensorineural hearing impairment Complete loss of hearing related to a sensorineural defect. UMLS:C4023338 hp.json http://purl.obolibrary.org/obo/HP_0011476 HP:0011477 biolink:PhenotypicFeature Upbeat nystagmus In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient. SNOMEDCT_US:307677002|UMLS:C0585545 hp.json http://purl.obolibrary.org/obo/HP_0011477 HP:0011478 biolink:PhenotypicFeature True anophthalmia Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. UMLS:C2675590 hp.json Completely missing eyeball|Total anophthalmia|Complete anophthalmia http://purl.obolibrary.org/obo/HP_0011478 OBO:MAXO_0000880 biolink:NamedThing indirect bilirubin measurement for assessment of liver function A measurement of the unconjugated or non-water-soluble bilirubin in a biological specimen to assess liver function. hp.json http://purl.obolibrary.org/obo/MAXO_0000880 HP:0011479 biolink:PhenotypicFeature Abnormal lacrimal punctum morphology An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid. UMLS:C4023337 hp.json Abnormality of the lacrimal punctum http://purl.obolibrary.org/obo/HP_0011479 OBO:MAXO_0010201 biolink:NamedThing uterine ultrasonography The use of ultrasound to produce images of structures in the body of uterus. hp.json body of uterus sonography|ultrasonography of body of uterus|body of uterus ultrasound procedure|body of uterus ultrasound examination|body of uterus medical ultrasound|body of uterus ultrasound imaging procedure|sonography of body of uterus|body of uterus diagnostic sonography http://purl.obolibrary.org/obo/MAXO_0010201 OBO:MAXO_0010202 biolink:NamedThing breast ultrasonography The use of ultrasound to produce images of structures in the breast. hp.json breast ultrasound imaging procedure|sonography of breast|breast diagnostic sonography|breast sonography|ultrasonography of breast|breast ultrasound procedure|breast ultrasound examination|breast medical ultrasound http://purl.obolibrary.org/obo/MAXO_0010202 OBO:MAXO_0010203 biolink:NamedThing echocardiography The use of ultrasound to produce images of structures in the heart. hp.json echocardiogram procedure|sonography of heart|heart sonography|heart ultrasound procedure|heart ultrasound examination|cardiac echo procedure|heart medical ultrasound|ultrasonography of heart|echo procedure|heart ultrasound imaging procedure|heart diagnostic sonography http://purl.obolibrary.org/obo/MAXO_0010203 CHEBI:16919 biolink:ChemicalSubstance creatine A glycine derivative having methyl and amidino groups attached to the nitrogen. Wikipedia:Creatine|PMID:22521466|PMID:21556832|PMID:22038587|MetaCyc:CREATINE|DrugBank:DB00148|PDBeChem:CRN|PMID:11356982|CAS:57-00-1|CAS:57-00-1|PMID:17416441|PMID:7752905|PMID:22196490|PMID:19741514|PMID:19082141|PMID:12878267|HMDB:HMDB0000064|PMID:17253521|PMID:21660517|PMID:22465051|PMID:18555535|Beilstein:907175|PMID:22347384|PMID:19651674|PMID:21698493|PMID:22252611|PMID:22429992|Reaxys:907175|PMID:11867929|KEGG:C00300|PMID:19968328|Gmelin:240513|PMID:22101931|PMID:12184144|PMID:22422801|PMID:22386973|PMID:16445883|CAS:57-00-1|PMID:17190852|Chemspider:566|Drug_Central:4661|PMID:12085493|PMID:11483809 hp.json N-(aminoiminomethyl)-N-methylglycine|Methylglycocyamine|(alpha-methylguanido)acetic acid|N-carbamimidoyl-N-methylglycine|Creatin|Creatine|(N-methylcarbamimidamido)acetic acid|(alpha-methylguanido)acetic acid|alpha-Methylguanidino acetic acid|N-amidinosarcosine|N-[(E)-AMINO(IMINO)METHYL]-N-METHYLGLYCINE|N-[amino(imino)methyl]-N-methylglycine|((amino(imino)methyl)(methyl)amino)acetic acid|Kreatin|N-methyl-N-guanylglycine|N-Methyl-N-guanylglycine http://purl.obolibrary.org/obo/CHEBI_16919 3_STAR OBO:MAXO_0010204 biolink:NamedThing liver ultrasonography The use of ultrasound to produce images of structures in the liver. hp.json sonography of liver|liver sonography|liver ultrasound procedure|liver ultrasound examination|liver medical ultrasound|ultrasonography of liver|liver ultrasound imaging procedure|liver diagnostic sonography http://purl.obolibrary.org/obo/MAXO_0010204 OBO:MAXO_0010205 biolink:NamedThing lung ultrasonography The use of ultrasound to produce images of structures in the lung. hp.json lung ultrasound procedure|lung diagnostic sonography|sonography of lung|lung ultrasound examination|lung medical ultrasound|ultrasonography of lung|lung ultrasound imaging procedure|lung sonography http://purl.obolibrary.org/obo/MAXO_0010205 OBO:MAXO_0010206 biolink:NamedThing lymph node ultrasonography The use of ultrasound to produce images of structures in the lymph node. hp.json lymph node ultrasound imaging procedure|lymph node sonography|lymph node ultrasound procedure|sonography of lymph node|lymph node diagnostic sonography|lymph node ultrasound examination|lymph node medical ultrasound|ultrasonography of lymph node http://purl.obolibrary.org/obo/MAXO_0010206 OBO:MAXO_0010207 biolink:NamedThing musculoskeletal ultrasonography The use of ultrasound to produce images of structures in the musculoskeletal system. hp.json ultrasonography of musculoskeletal system|musculoskeletal system sonography|musculoskeletal system ultrasound procedure|musculoskeletal system ultrasound examination|musculoskeletal system medical ultrasound|musculoskeletal system ultrasound imaging procedure|sonography of musculoskeletal system|musculoskeletal system diagnostic sonography http://purl.obolibrary.org/obo/MAXO_0010207 HP:0011470 biolink:PhenotypicFeature Nasogastric tube feeding in infancy Feeding problem necessitating nasogastric tube feeding. UMLS:C4023343 hp.json http://purl.obolibrary.org/obo/HP_0011470 OBO:MAXO_0010208 biolink:NamedThing neck ultrasonography The use of ultrasound to produce images of structures in the neck. hp.json neck ultrasound procedure|neck ultrasound examination|neck medical ultrasound|sonography of neck|neck diagnostic sonography|neck ultrasound imaging procedure|ultrasonography of neck|neck sonography http://purl.obolibrary.org/obo/MAXO_0010208 HP:0011471 biolink:PhenotypicFeature Gastrostomy tube feeding in infancy Feeding problem necessitating gastrostomy tube feeding. UMLS:C4023342|UMLS:C4020748 hp.json PEG-fed in infancy http://purl.obolibrary.org/obo/HP_0011471 GO:0036179 biolink:BiologicalProcess osteoclast maturation A developmental process, independent of morphogenetic (shape) change, that is required for an osteoclast cell to attain its fully functional state. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, and which typically differentiates from monocytes. hp.json chondroclast maturation http://purl.obolibrary.org/obo/GO_0036179 OBO:MAXO_0010200 biolink:NamedThing transabdominal ultrasonography A method of ultrasound imaging in which the ultrasound probe is pressed against the skin of the abdomen in order to create an image of the abdominal organs. NCIT:C71375 hp.json TUS|diagnostic transabdominal ultrasound|transabdominal sonography|abdomen sonography|ultrasonography of abdomen|abdomen ultrasound procedure|medical transabdominal ultrasound|abdomen diagnostic sonography|abdomen ultrasound examination|transabdominal ultrasound|sonography of abdomen|abdomen medical ultrasound|abdomen ultrasound imaging procedure http://purl.obolibrary.org/obo/MAXO_0010200 GO:0120111 biolink:CellularComponent neuron projection cytoplasm All of the contents of a plasma membrane bounded neuron projection, excluding the plasma membrane surrounding the projection. hp.json http://purl.obolibrary.org/obo/GO_0120111 OBO:MAXO_0000886 biolink:NamedThing kidney function testing A laboratory procedure that evaluates the kidney function. NCIT:C74972 hp.json rental function test http://purl.obolibrary.org/obo/MAXO_0000886 OBO:MAXO_0000887 biolink:NamedThing glomerular filtration rate test A measurement of the volume of fluid filtered from the renal glomerular capillaries into the Bowman's capsule per unit time. hp.json GFR test http://purl.obolibrary.org/obo/MAXO_0000887 OBO:MAXO_0000888 biolink:NamedThing estimated glomerular filtration rate calculation An estimated rate of glomerular filtration is calculated from blood creatinine test, age, body size and gender. hp.json eGFR test http://purl.obolibrary.org/obo/MAXO_0000888 PR:000001408 biolink:Protein ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. IUPHARobj:2766 hp.json CD38|2'-phospho-cyclic-ADP-ribose transferase|ADP-ribosyl cyclase 1|cyclic ADP-ribose hydrolase 1|T10|cADPr hydrolase 1|ADPRC 1|2'-phospho-ADP-ribosyl cyclase|I-19|NIM-R5 antigen|2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase http://purl.obolibrary.org/obo/PR_000001408 HP:0011461 biolink:PhenotypicFeature Fetal onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). UMLS:C4023347 hp.json Foetal onset http://purl.obolibrary.org/obo/HP_0011461 HP:0011462 biolink:PhenotypicFeature Young adult onset Onset of disease at the age of between 16 and 40 years. UMLS:C3554568 hp.json http://purl.obolibrary.org/obo/HP_0011462 HP:0011463 biolink:PhenotypicFeature Childhood onset Onset of disease at the age of between 1 and 5 years. UMLS:C1837352 hp.json Symptoms begin in childhood http://purl.obolibrary.org/obo/HP_0011463 HP:0011464 biolink:PhenotypicFeature Aganglionosis of the small intestine A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine. UMLS:C4023346 hp.json http://purl.obolibrary.org/obo/HP_0011464 OBO:MAXO_0000871 biolink:NamedThing obstetric cervical examination A systemic evaluation of the cervix during pregnancy to determine dilation and effacement of the cervix, cervical position and consistancy, and fetal position. hp.json pregnant cervical exam|cervical exam while pregnant|obstetric examination of the cervix. http://purl.obolibrary.org/obo/MAXO_0000871 HP:0011465 biolink:PhenotypicFeature Duodenal aganglionosis A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum. UMLS:C4023345 hp.json http://purl.obolibrary.org/obo/HP_0011465 GO:0051702 biolink:BiologicalProcess biological process involved in interaction with symbiont An interaction between two organisms living together in more or less intimate association. The term symbiont is used for the smaller (macro) of the two members of a symbiosis; the various forms of symbiosis include parasitism, commensalism and mutualism. hp.json interaction with symbiont http://purl.obolibrary.org/obo/GO_0051702 HP:0011466 biolink:PhenotypicFeature Aplasia/Hypoplasia of the gallbladder Absence or underdevelopment of the gallbladder. UMLS:C4023344 hp.json Absent/small gallbladder|Absent/underdeveloped gallbladder http://purl.obolibrary.org/obo/HP_0011466 OBO:MAXO_0000872 biolink:NamedThing cancer screening breast examination An evaluation of the breast using visual inspection, palpation, and percussion for the specific purpose of identifying breast changes which may be cancer. hp.json cancer breast exam http://purl.obolibrary.org/obo/MAXO_0000872 HP:0011467 biolink:PhenotypicFeature Absent gallbladder A developmental defect in which the gallbladder fails to form. SNOMEDCT_US:86507001|UMLS:C0266251|MSH:C562564 hp.json Agenesis of the gallbladder|Aplasia of the gallbladder|Absent gallbladder http://purl.obolibrary.org/obo/HP_0011467 HP:0011468 biolink:PhenotypicFeature Facial tics Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. UMLS:C4280325|SNOMEDCT_US:32402008|UMLS:C4280324|UMLS:C0338467|UMLS:C0858722|UMLS:C0278151|SNOMEDCT_US:230335009 hp.json Twitching of facial muscles|Jerking of facial muscles|Cramping of facial muscles|Involuntary facial muscle spasms|Muscle spasm of face|Spasms of facial muscles|Mimic spasms|Facial spasms|Facial tics|Myoclonus of facial muscles http://purl.obolibrary.org/obo/HP_0011468 OBO:MAXO_0000870 biolink:NamedThing pregnancy HCG test A quantitative measurement of the amount of human chorionic gonadotropin present in urine or serum for the purpose of determining whether the patient is pregnant. hp.json HCG pregnancy test http://purl.obolibrary.org/obo/MAXO_0000870 GO:0051707 biolink:BiologicalProcess response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. hp.json http://purl.obolibrary.org/obo/GO_0051707 GO:0051704 biolink:BiologicalProcess multi-organism process A biological process which involves another organism of the same or different species. hp.json physiological interaction with other organism|physiological interaction between organisms|interaction between organisms http://purl.obolibrary.org/obo/GO_0051704 gocheck_do_not_annotate|goslim_pir HP:0011460 biolink:PhenotypicFeature Embryonal onset Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). UMLS:C4023348 hp.json http://purl.obolibrary.org/obo/HP_0011460 CHEBI:63248 biolink:ChemicalSubstance oxidising agent A substance that removes electrons from another reactant in a redox reaction. hp.json oxidizer|oxidizing agent|oxidizing agents|oxidizers|oxidants|oxidiser|oxidising agents|oxidisers|oxidant http://purl.obolibrary.org/obo/CHEBI_63248 3_STAR HP:0011469 biolink:PhenotypicFeature Nasal regurgitation Regurgitation of milk through the nose. SNOMEDCT_US:85023004|UMLS:C0232608 hp.json http://purl.obolibrary.org/obo/HP_0011469 OBO:MAXO_0000875 biolink:NamedThing 5'-nucleotidase measurement for liver function The determination of the amount of 5'-nucleotidase present in the sample to assess liver function. hp.json 5'-nucleotidase test for liver function assessment|liver function 5'-nucleotidase test|liver function 5'-nucleotidase measurement http://purl.obolibrary.org/obo/MAXO_0000875 OBO:MAXO_0000876 biolink:NamedThing alkaline phosphatase measurement for liver function The determination of the amount of alkaline phosphatase present in the sample for assessment of liver function. hp.json liver function alkaline phosphatase measurement|liver function alk phos test|alkaline phosphatase measurement for liver function assessment http://purl.obolibrary.org/obo/MAXO_0000876 OBO:MAXO_0000873 biolink:NamedThing hearing examination A test that evaluates of the sensitivity of a person's sense of hearing and is used to determine a person's hearing sensitivity at different frequencies. hp.json hearing test|hearing assessment|hearing exam http://purl.obolibrary.org/obo/MAXO_0000873 GO:0036161 biolink:NamedThing calcitonin secretion hp.json http://purl.obolibrary.org/obo/GO_0036161 OBO:MAXO_0000874 biolink:NamedThing albumin test for liver function The determination of the amount of albumin (human) present in the sample in order to assess the liver's function. hp.json liver function albumin test|albumin test for liver function assessment http://purl.obolibrary.org/obo/MAXO_0000874 OBO:MAXO_0000879 biolink:NamedThing total bilirubin measurement for assessment of liver function The measurement of the total amount of bilirubin present in a particular substrate in order to assess liver function. The substrate most often tested is blood, but other fluids extracted from the body may be used periodically depending on the purpose of the test. hp.json http://purl.obolibrary.org/obo/MAXO_0000879 OBO:MAXO_0000877 biolink:NamedThing calcium assessment for liver function A quantitative measurement of the amount of calcium present in a sample, usually serum or urine for the assessment of liver function. hp.json liver function calcium test|calcium test for liver function assessement http://purl.obolibrary.org/obo/MAXO_0000877 OBO:MAXO_0000878 biolink:NamedThing lactate dehydrogenase measurement for liver assessment The determination of the amount of lactate dehydrogenase present in the sample to assess liver function. hp.json http://purl.obolibrary.org/obo/MAXO_0000878 GO:0051716 biolink:BiologicalProcess cellular response to stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. hp.json http://purl.obolibrary.org/obo/GO_0051716 gocheck_do_not_manually_annotate OBO:MAXO_0000828 biolink:NamedThing total iron binding capacity measurement The determination of the saturation of iron binding sites on serum transferrin proteins. NCIT:C74718 hp.json total iron binding content measurement|IBCT|TIBC http://purl.obolibrary.org/obo/MAXO_0000828 OBO:MAXO_0000829 biolink:NamedThing blood cell measurement A measurement of size, shape, number, or other parameter of blood cells in order to diagnose or treat a patient. hp.json http://purl.obolibrary.org/obo/MAXO_0000829 OBO:MAXO_0000826 biolink:NamedThing serum iron measurement A quantitative measurement of the amount of iron in serum. hp.json http://purl.obolibrary.org/obo/MAXO_0000826 OBO:MAXO_0000827 biolink:NamedThing serum ferritin measurement A quantitative measurement determining the amount of ferritin in serum as an indicator of iron metabolism. hp.json serum ferritin level measurement http://purl.obolibrary.org/obo/MAXO_0000827 OBO:MAXO_0000820 biolink:NamedThing bile specimen collection Collecting of bile for clinical use. hp.json collection of bile specimen|bile collection http://purl.obolibrary.org/obo/MAXO_0000820 OBO:MAXO_0000821 biolink:NamedThing blood typing procedure A procedure to tell what a patient's blood type and cell surface markers are. hp.json http://purl.obolibrary.org/obo/MAXO_0000821 OBO:MAXO_0000824 biolink:NamedThing hemoglobin measurement A quantitative measurement of the amount of hemoglobin present in a sample. NCIT:C64848 hp.json HGB measurement http://purl.obolibrary.org/obo/MAXO_0000824 OBO:MAXO_0000825 biolink:NamedThing reticulocyte count The determination of the number of reticulocytes in a blood sample. NCIT:C51947|PMID:29763080 hp.json http://purl.obolibrary.org/obo/MAXO_0000825 OBO:MAXO_0000822 biolink:NamedThing ABO blood typing procedure A procedured performed to determine the antigens patient's red blood cells (RBCs) that correspond to the four main blood groups: A, B, O, and AB. hp.json ABO blood type testing http://purl.obolibrary.org/obo/MAXO_0000822 OBO:MAXO_0000823 biolink:NamedThing Rh factor blood typing procedure Testing to determine whether the protien Rhesus (Rh) factor is present on patient's red blood cells. If the protein is present, the patient is said to be Rh positive. If the protein is not present, the patient is Rh negative. hp.json Rhesus factor blood testing|Rh factor blood testing http://purl.obolibrary.org/obo/MAXO_0000823 UBERON:0035371 biolink:AnatomicalEntity retroperitoneal lymph node A lymph node located in the retroperitoneal space. FMA:16694|NCIT:C98189 hp.json retroperitoneal node http://purl.obolibrary.org/obo/UBERON_0035371 GO:0051726 biolink:BiologicalProcess regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle. hp.json cell cycle arrest|cell cycle regulation|regulation of cell cycle arrest|arrest of mitotic cell cycle progression|regulation of progression through cell cycle|mitotic cell cycle arrest|positive regulation of cell cycle arrest|control of cell cycle progression|modulation of cell cycle progression|regulation of cell cycle progression|negative regulation of cell cycle arrest|cell cycle regulator|cell cycle modulation|tumor suppressor http://purl.obolibrary.org/obo/GO_0051726 goslim_yeast GO:0036145 biolink:BiologicalProcess dendritic cell homeostasis The process of regulating the proliferation and elimination of dendritic cells such that the total number of dendritic cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. hp.json DC homeostasis http://purl.obolibrary.org/obo/GO_0036145 OBO:MAXO_0000817 biolink:NamedThing hepatitis C screening Screening for hepatitis C antibodies to determine if a patient has immunity to hepatitis C. hp.json hep C testing http://purl.obolibrary.org/obo/MAXO_0000817 OBO:MAXO_0000815 biolink:NamedThing chlamydia screening Testing to determine if the patient has a chlamydia bacterial infection. hp.json http://purl.obolibrary.org/obo/MAXO_0000815 OBO:MAXO_0000816 biolink:NamedThing gonorrhea testing Testing for the sexually transmitted disease gonorrhea. hp.json http://purl.obolibrary.org/obo/MAXO_0000816 OBO:MAXO_0000819 biolink:NamedThing blood specimen collection Collecting of blood for clinical use. hp.json collection of blood specimen|blood collection http://purl.obolibrary.org/obo/MAXO_0000819 PR:000001479 biolink:Protein low affinity immunoglobulin gamma Fc region receptor II An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. hp.json Fc gamma receptor IIB|lymphocyte antigen 17|Fc-gamma RII|IgG Fc receptor II beta|CD32|ly-17|Fc-gamma-RIIB|FcRII|Fcgr2b|Fcgr2 http://purl.obolibrary.org/obo/PR_000001479 OBO:MAXO_0000810 biolink:NamedThing rubella antibody titer testing Testing to determine whether a patient has sufficient antibodies to be protected from rubella virus or to verify infection. hp.json rubella testing http://purl.obolibrary.org/obo/MAXO_0000810 OBO:MAXO_0000813 biolink:NamedThing hepatitis B surface antigen testing Testing to detect hepatitis B viral antigens and an active hepatitis B infection. hp.json HBsAg testing http://purl.obolibrary.org/obo/MAXO_0000813 OBO:MAXO_0000814 biolink:NamedThing HIV screening Testing a patient for the antibodies to the human immunodeficiency virus (HIV). hp.json HIV testing http://purl.obolibrary.org/obo/MAXO_0000814 OBO:MAXO_0000811 biolink:NamedThing varicella testing Testing to diagnose primary VZV infection (varicella) as well as reactivation (herpes zoster). hp.json chickenpox testing|VZV testing|varicella-zoster virus testing http://purl.obolibrary.org/obo/MAXO_0000811 OBO:MAXO_0000812 biolink:NamedThing hepatitis B assessement Screening for hepatitis B antibodies to determine if a patient has immunity to hepatitis B. hp.json hepatitis B testing|hep B antibody titer testing|hep B testing http://purl.obolibrary.org/obo/MAXO_0000812 UBERON:0035383 biolink:AnatomicalEntity lateral wall of nasopharynx NCIT:C12244|FMA:54908 hp.json lateral nasopharynx http://purl.obolibrary.org/obo/UBERON_0035383 GO:0036135 biolink:BiologicalProcess Schwann cell migration The orderly movement of a Schwann cell from one site to another. A Schwann cell is a glial cell that ensheathes axons of neuron in the peripheral nervous system and is necessary for their maintainance and function. hp.json http://purl.obolibrary.org/obo/GO_0036135 OBO:MAXO_0000848 biolink:NamedThing bilirubin measurement The measurement of bilirubin present in a particular sample. hp.json http://purl.obolibrary.org/obo/MAXO_0000848 OBO:MAXO_0000849 biolink:NamedThing indirect bilirubin measurement A measurement of the unconjugated or non-water-soluble bilirubin in a biological specimen. NCIT:C64483 hp.json http://purl.obolibrary.org/obo/MAXO_0000849 PR:000001444 biolink:Protein cadherin-5 A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. hp.json vascular endothelial cadherin|7B4 antigen|VE-cadherin|CD144|CDH5 http://purl.obolibrary.org/obo/PR_000001444 OBO:MAXO_0000842 biolink:NamedThing gamma glutamyl transpeptidase measurement The determination of the amount of gamma-glutamyltranspeptidase present in the sample. NCIT:C64847 hp.json gamma-glutamyltranspeptidase test|gamma-glutamyltranspeptidase assessment|GTP test|gamma-GT test|GGT test http://purl.obolibrary.org/obo/MAXO_0000842 OBO:MAXO_0000843 biolink:NamedThing albumin measurement The determination of the amount of albumin (human) present in the sample. NCIT:C64431 hp.json ALB level test|albumin level measurement|albumin test|albumin assessment|albumin (human) test|albumin (human) assessment http://purl.obolibrary.org/obo/MAXO_0000843 OBO:MAXO_0000840 biolink:NamedThing alanine transaminase test The determination of the amount of alanine aminotransferase (human) present in the sample. NCIT:C64433 hp.json GPT test|serum glutamic-pyruvic transaminase test|alanine transaminase measurement|alanine aminotransferase (human) test|alanine aminotransferase (human) assessment|SGPT test|ALT test http://purl.obolibrary.org/obo/MAXO_0000840 OBO:MAXO_0000841 biolink:NamedThing aspartate aminotransferase measurement The determination of the amount of aspartate aminotransferase (human) present in the sample. NCIT:C64467 hp.json AST blood test|aspartate aminotransferase (human) assessment|aspartate aminotransferase (human) test|serum glutamic oxaloacetic transaminase test|aspartate aminotransferase blood test|SGOT test http://purl.obolibrary.org/obo/MAXO_0000841 OBO:MAXO_0000846 biolink:NamedThing lactate dehydrogenase measurement The determination of the amount of lactate dehydrogenase present in the sample. NCIT:C64855 hp.json LDH measurement http://purl.obolibrary.org/obo/MAXO_0000846 OBO:MAXO_0000847 biolink:NamedThing 5'-nucleotidase measurement The determination of the amount of 5'-nucleotidase present in the sample. NCIT:C79437 hp.json 5'-nucleotidase assessment|5'-nucleotidase test|5 prime nucleotidase measurement|5'- nucleotidase measurement http://purl.obolibrary.org/obo/MAXO_0000847 OBO:MAXO_0000844 biolink:NamedThing alkaline phosphatase measurement The determination of the amount of alkaline phosphatase present in the sample. NCIT:C64432 hp.json alk phos test|alkaline phosphatase assessment|ALP measurement|alkaline phosphatase test http://purl.obolibrary.org/obo/MAXO_0000844 OBO:MAXO_0000845 biolink:NamedThing total bilirubin measurement The measurement of the total amount of bilirubin present in a particular substrate. The substrate most often tested is blood, but other fluids extracted from the body may be used periodically depending on the purpose of the test. NCIT:C38037 hp.json total bilirubin level measurement|BILI measurement http://purl.obolibrary.org/obo/MAXO_0000845 CL:0011030 biolink:Cell dermal microvascular endothelial cell Any microvascular endothelial cell that is part of the dermis. hp.json dermal microvascular endothelium cell|DMEC cell http://purl.obolibrary.org/obo/CL_0011030 UBERON:0035398 biolink:AnatomicalEntity branch of external carotid artery NCIT:C32552|UMLS:C0447038|SCTID:244216003|FMA:70505 hp.json subdivision of external carotid artery|external carotid arterial subdivision http://purl.obolibrary.org/obo/UBERON_0035398 PR:000013429 biolink:Protein parathyroid hormone A protein that is a translation product of the human PTH gene or a 1:1 ortholog thereof. hp.json parathyrin|parathormone|PTH http://purl.obolibrary.org/obo/PR_000013429 OBO:MAXO_0000839 biolink:NamedThing thrombin time measurement A measurement of the time it takes a plasma sample to clot after adding the active enzyme thrombin. NCIT:C80365 hp.json thrombin clotting time measurement|TT measurment|TCT measurement http://purl.obolibrary.org/obo/MAXO_0000839 OBO:MAXO_0000837 biolink:NamedThing partial thromboplastin time test A measurement of the length of time that it takes for clotting to occur when reagents are added to a plasma specimen. The test is partial due to the absence of tissue factor (Factor III) from the reaction mixture. NCIT:C38462 hp.json activated partial thromboplastin time test|APTT test|PTT test http://purl.obolibrary.org/obo/MAXO_0000837 OBO:MAXO_0000838 biolink:NamedThing prothrombin time/international normalized ratio measurement The determination of the ratio of the prothrombin time in a subject's specimen compared to a control sample. The measurement may be expressed as a ratio or percentage. NCIT:C170591 hp.json prothrombin time actual/control measurement|PTAC measurement|PT/INR measurement http://purl.obolibrary.org/obo/MAXO_0000838 OBO:MAXO_0000831 biolink:NamedThing blood smear test A procedure taking a thin layer of blood smeared on a glass microscope slide and stained to allow blood cells to be examined with a microscope. hp.json blood film test|peripheral blood film test|peripheral blood smear http://purl.obolibrary.org/obo/MAXO_0000831 OBO:MAXO_0000832 biolink:NamedThing serum creatinine measurement A quantitative measurement of the amount of creatinine present in a sample of serum. NCIT:C61023 hp.json http://purl.obolibrary.org/obo/MAXO_0000832 OBO:MAXO_0000830 biolink:NamedThing erythrocyte cell morphology measurement An examination or assessment of the form and structure of red blood cells. NCIT:C92296 hp.json RBC morphology measurement|red blood cell morphology measurement http://purl.obolibrary.org/obo/MAXO_0000830 OBO:MAXO_0000835 biolink:NamedThing T3 thyroid hormone test Determination of triiodothyronine (T3) levels in blood as an indicator of thyroid health. hp.json triiodothyronine level test|T3 level test http://purl.obolibrary.org/obo/MAXO_0000835 OBO:MAXO_0000836 biolink:NamedThing blood coagulation test A measure of a patient's ability to clot, and how long it takes to clot. NCIT:C62662 hp.json coagulation study http://purl.obolibrary.org/obo/MAXO_0000836 OBO:MAXO_0000833 biolink:NamedThing thyroid-stimulating hormone test The determination of the amount of thyroid stimulating hormone present in blood. hp.json TSH level test|blood thyroid stimulating hormone test|thyroid stimulating hormone blood assessment http://purl.obolibrary.org/obo/MAXO_0000833 OBO:MAXO_0000834 biolink:NamedThing T4 thyroid hormone test Determination of thyroxine (T4) levels in the blood as an indicator of thyroid health. hp.json thyroxine level test|T4 level test http://purl.obolibrary.org/obo/MAXO_0000834 HP:0011650 biolink:PhenotypicFeature Bilateral ductus arteriosus The presence of both a left and a right ductus arteriosus. UMLS:C0431501|SNOMEDCT_US:461093009 hp.json Bilateral ductus botalli http://purl.obolibrary.org/obo/HP_0011650 HP:0011651 biolink:PhenotypicFeature Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. UMLS:C3165091|SNOMEDCT_US:448516008 hp.json DORV with doubly committed VSD and pulmonary stenosis http://purl.obolibrary.org/obo/HP_0011651 NCBITaxon:4932 biolink:OrganismalEntity Saccharomyces cerevisiae GC_ID:1 hp.json baker's yeast|Mycoderma cerevisiae|Candida robusta|S. cerevisiae|Saccharomyces oviformis|Saccharomyces capensis|Saccharomyces uvarum var. melibiosus|Saccharomyces italicus|brewer's yeast http://purl.obolibrary.org/obo/NCBITaxon_4932 HP:0011652 biolink:PhenotypicFeature Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. UMLS:C4023247|Fyler:0604|Fyler:604 hp.json DORV with doubly committed VSD|Double outlet right ventricle, doubly committed ventricular septal defect http://purl.obolibrary.org/obo/HP_0011652 CHEBI:28842 biolink:ChemicalSubstance octadecanoic acid A C18 straight-chain saturated fatty acid component of many animal and vegetable lipids. As well as in the diet, it is used in hardening soaps, softening plastics and in making cosmetics, candles and plastics. CAS:57-11-4|PMID:7763343|PMID:11425337|LIPID_MAPS_instance:LMFA01010018|PMID:19468063|Beilstein:608585|KNApSAcK:C00001238|Reaxys:608585|PMID:22735334|KEGG:D00119|PMID:19838949|HMDB:HMDB0000827|PMID:26884207|Gmelin:11738|PMID:18982377|Drug_Central:4611|PMID:16448636|CAS:57-11-4|Wikipedia:Stearic_acid|MetaCyc:STEARIC_ACID|KEGG:C01530|PDBeChem:STE|DrugBank:DB03193|PMID:17439666 hp.json octadecoic acid|acide stearique|C18:0|Octadecansaeure|octadecanoic acid|CH3-[CH2]16-COOH|acide octadecanoique|STEARIC ACID|Stearinsaeure|Oktadekansaeure|stearic acid|Octadecanoic acid|18:0|n-octadecanoic acid http://purl.obolibrary.org/obo/CHEBI_28842 3_STAR HP:0011653 biolink:PhenotypicFeature Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. UMLS:C4023246 hp.json DORV with non-committed VSD and pulmonary stenosis http://purl.obolibrary.org/obo/HP_0011653 NCBITaxon:4930 biolink:OrganismalEntity Saccharomyces GC_ID:1 hp.json Pachytichospora http://purl.obolibrary.org/obo/NCBITaxon_4930 HP:0011654 biolink:PhenotypicFeature Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. Fyler:603|UMLS:C4023245|Fyler:0603 hp.json DORV with non-committed VSD without pulmonary stenosis|Double outlet right ventricle, noncommitted ventricular septal defect http://purl.obolibrary.org/obo/HP_0011654 HP:0011655 biolink:PhenotypicFeature Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. UMLS:C4023244 hp.json DORV with subaortic VSD and pulmonary stenosis http://purl.obolibrary.org/obo/HP_0011655 HP:0011656 biolink:PhenotypicFeature Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. UMLS:C4023243 hp.json DORV with subaortic VSD without pulmonary stenosis http://purl.obolibrary.org/obo/HP_0011656 HP:0011657 biolink:PhenotypicFeature Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. UMLS:C4023242 hp.json DORV with subpulmonary VSD and pulmonary stenosis http://purl.obolibrary.org/obo/HP_0011657 HP:0011658 biolink:PhenotypicFeature Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. UMLS:C4023241 hp.json DORV with subpulmonary VSD without pulmonary stenosis|Taussig-Bing anomaly http://purl.obolibrary.org/obo/HP_0011658 HP:0011659 biolink:PhenotypicFeature Tetralogy of Fallot with absent pulmonary valve Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue. UMLS:C1302264|SNOMEDCT_US:399228007 hp.json Tetralogy of Fallot with absent pulmonary valve syndrome http://purl.obolibrary.org/obo/HP_0011659 OBO:MAXO_0000900 biolink:NamedThing electrocardiography A procedure that displays the electrical activity of the heart. NCIT:C38053 hp.json EKG|ECG http://purl.obolibrary.org/obo/MAXO_0000900 HP:0011640 biolink:PhenotypicFeature Single coronary artery origin The presence of a single coronary artery ostium from which both coronary arteries arise. UMLS:C4023251 hp.json http://purl.obolibrary.org/obo/HP_0011640 HP:0011641 biolink:PhenotypicFeature Coronary artery fistula A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel. SNOMEDCT_US:373093003|Fyler:2230|UMLS:C0265898 hp.json Coronary fistula http://purl.obolibrary.org/obo/HP_0011641 HP:0011642 biolink:PhenotypicFeature Abnormal coronary sinus morphology An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium. Fyler:2840|SNOMEDCT_US:253323000|UMLS:C0344680 hp.json Abnormality of the coronary sinus http://purl.obolibrary.org/obo/HP_0011642 HP:0011643 biolink:PhenotypicFeature Coronary sinus atrial septal defect An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus. UMLS:C2063331|ICD-10:Q21.1 hp.json http://purl.obolibrary.org/obo/HP_0011643 HP:0011644 biolink:PhenotypicFeature Coronary sinus diverticulum A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus. SNOMEDCT_US:447661004|UMLS:C3163894 hp.json Diverticulum of the coronary sinus http://purl.obolibrary.org/obo/HP_0011644 HP:0008008 biolink:PhenotypicFeature obsolete Progressive central visual loss hp.json http://purl.obolibrary.org/obo/HP_0008008 HP:0008007 biolink:PhenotypicFeature Primary congenital glaucoma SNOMEDCT_US:415176004|UMLS:C1533041 hp.json http://purl.obolibrary.org/obo/HP_0008007 HP:0008009 biolink:PhenotypicFeature Three rows of eyelashes UMLS:C1860785 hp.json Triple row of eyelashes|Three rows of eyelashes http://purl.obolibrary.org/obo/HP_0008009 HP:0011645 biolink:PhenotypicFeature Dilatation of the sinus of Valsalva Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. UMLS:C2239253|Fyler:2316|SNOMEDCT_US:54160000 hp.json Aneurysm of the aortic sinus|Aortic sinus aneurysm|Sinus of Valsalva aneurysm http://purl.obolibrary.org/obo/HP_0011645 HP:0011646 biolink:PhenotypicFeature Juxtaductal coarctation of the aorta Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch. UMLS:C4023250 hp.json http://purl.obolibrary.org/obo/HP_0011646 HP:0008003 biolink:PhenotypicFeature Jerky ocular pursuit movements UMLS:C1853558 hp.json Jerky smooth pursuit http://purl.obolibrary.org/obo/HP_0008003 HP:0011647 biolink:PhenotypicFeature Postductal coarctation of the aorta Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch. SNOMEDCT_US:72242008|UMLS:C0265879 hp.json Postductal aortic coarctation http://purl.obolibrary.org/obo/HP_0011647 HP:0008005 biolink:PhenotypicFeature obsolete Congenital corneal dystrophy hp.json http://purl.obolibrary.org/obo/HP_0008005 HP:0011648 biolink:PhenotypicFeature Patent ductus arteriosus after birth at term Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. UMLS:C4023249 hp.json http://purl.obolibrary.org/obo/HP_0011648 HP:0008000 biolink:PhenotypicFeature Decreased corneal reflex An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. UMLS:C0151572|MSH:D012021|SNOMEDCT_US:103254005 hp.json Decreased blink reflex|Reduced corneal reflex http://purl.obolibrary.org/obo/HP_0008000 HP:0011649 biolink:PhenotypicFeature Patent ductus arteriosus after premature birth Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation. UMLS:C4023248 hp.json http://purl.obolibrary.org/obo/HP_0011649 HP:0008002 biolink:PhenotypicFeature Abnormality of macular pigmentation Abnormality of macular or foveal pigmentation. UMLS:C1837087|UMLS:C4024756 hp.json Macular pigmentary changes http://purl.obolibrary.org/obo/HP_0008002 hposlim_core HP:0008001 biolink:PhenotypicFeature Foveal hyperpigmentation Increased amount of pigmentation in the fovea centralis. UMLS:C3809301 hp.json http://purl.obolibrary.org/obo/HP_0008001 HP:0011630 biolink:PhenotypicFeature Complete diaphragmatic absence of pericardium No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. UMLS:C4023259 hp.json http://purl.obolibrary.org/obo/HP_0011630 HP:0011631 biolink:PhenotypicFeature Complete right sided absence of pericardium No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy. UMLS:C4023258 hp.json http://purl.obolibrary.org/obo/HP_0011631 HP:0011632 biolink:PhenotypicFeature Partial right sided absence of pericardium A congenital anomaly with lack of part of the pericardium on the righthand side of the heart. UMLS:C4023257 hp.json http://purl.obolibrary.org/obo/HP_0011632 HP:0011633 biolink:PhenotypicFeature Complete left sided absence of pericardium A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart. UMLS:C4023256 hp.json Absent lining around of left side of heart http://purl.obolibrary.org/obo/HP_0011633 OBO:MAXO_0000927 biolink:NamedThing newborn heart rate measurement Determination of the newborn's heart rate. NCIT:C87103 hp.json http://purl.obolibrary.org/obo/MAXO_0000927 OBO:MAXO_0000925 biolink:NamedThing Apgar testing A test conducted at 1 minute and 5 minutes after birth to determine the overall health of the newborn. NCIT:C81230 hp.json http://purl.obolibrary.org/obo/MAXO_0000925 HP:0011634 biolink:PhenotypicFeature Partial left sided absence of pericardium A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart. UMLS:C4023255 hp.json http://purl.obolibrary.org/obo/HP_0011634 OBO:MAXO_0000920 biolink:NamedThing physical therapist evaluation An initial evaluation by a trained and certified individual who applies knowledge of the concepts, principles, and practices of physical therapy for the treatment or prevention of physical disability or disease. NCIT:C53422 hp.json physiotherapist evaluation http://purl.obolibrary.org/obo/MAXO_0000920 HP:0011635 biolink:PhenotypicFeature Partial diaphragmatic absence of pericardium Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. UMLS:C4023254 hp.json http://purl.obolibrary.org/obo/HP_0011635 HP:0011636 biolink:PhenotypicFeature Abnormal coronary artery origin Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries. UMLS:C4023253 hp.json http://purl.obolibrary.org/obo/HP_0011636 HP:0011637 biolink:PhenotypicFeature Anomalous origin of coronary artery from the pulmonary artery A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta. UMLS:C4023252 hp.json http://purl.obolibrary.org/obo/HP_0011637 HP:0011638 biolink:PhenotypicFeature Anomalous origin of left coronary artery from the pulmonary artery Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve. SNOMEDCT_US:450301003|Fyler:3101|UMLS:C3472166 hp.json ALCAPA|Bland-Garland-White syndrome|Anomalous left coronary artery from the pulmonary artery http://purl.obolibrary.org/obo/HP_0011638 OBO:MAXO_0000923 biolink:NamedThing newborn examination A general assessment of the overall health of a newborn. NCIT:C84749 hp.json http://purl.obolibrary.org/obo/MAXO_0000923 HP:0011639 biolink:PhenotypicFeature Anomalous origin of right coronary artery from the pulmonary artery Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve. UMLS:C3472165|SNOMEDCT_US:450300002 hp.json http://purl.obolibrary.org/obo/HP_0011639 CHEBI:41808 biolink:ChemicalSubstance decane A straight-chain alkane with 10 carbon atoms. CAS:124-18-5|PMID:11762597|Wikipedia:Decane|LIPID_MAPS_instance:LMFA11000568|Beilstein:1696981|HMDB:HMDB0031450|Reaxys:1696981|Gmelin:67816|CAS:124-18-5|MetaCyc:CPD-9287|DrugBank:DB02826|PDBeChem:D10 hp.json decane|n-Dekan|Dekan|DECANE|CH3-[CH2]8-CH3|n-decane http://purl.obolibrary.org/obo/CHEBI_41808 3_STAR OBO:MAXO_0000924 biolink:NamedThing newborn behavior examination The assessment of behavior in neonates. NCIT:C81314 hp.json http://purl.obolibrary.org/obo/MAXO_0000924 OBO:MAXO_0000921 biolink:NamedThing respiratory therapist evaluation An initial assessment by a professional trained and qualified to perform technical work concerned with administering therapeutic and diagnostic respiratory care and life support to patients with cardiopulmonary deficiencies and abnormalities. NCIT:C53425 hp.json http://purl.obolibrary.org/obo/MAXO_0000921 OBO:MAXO_0000922 biolink:NamedThing social worker evaluation An initial assessment by a professionally trained person who is employed in the administration of charity, social service, and welfare. The assistance this professional provides helps disadvantaged individuals and families adjust themselves to the community. NCIT:C28190 hp.json http://purl.obolibrary.org/obo/MAXO_0000922 CHEBI:28838 biolink:ChemicalSubstance lutein hp.json http://purl.obolibrary.org/obo/CHEBI_28838 HP:0011620 biolink:PhenotypicFeature Abnormality of abdominal situs An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs. UMLS:C4023266 hp.json http://purl.obolibrary.org/obo/HP_0011620 HP:0011621 biolink:PhenotypicFeature Gerbode ventricular septal defect A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve. SNOMEDCT_US:41893002|UMLS:C0265812|UMLS:C4023265 hp.json Left ventricular - right atrial communication http://purl.obolibrary.org/obo/HP_0011621 HP:0011622 biolink:PhenotypicFeature Inlet ventricular septal defect A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. Fyler:1340 hp.json Type 3 ventricular septal defect|Atrioventricular canal type ventricular septal defect http://purl.obolibrary.org/obo/HP_0011622 UBERON:0035471 biolink:AnatomicalEntity posterior surface of kidney NCIT:C32895|FMA:15590 hp.json facies posterior renis|facies posterior (Ren) http://purl.obolibrary.org/obo/UBERON_0035471 OBO:MAXO_0000914 biolink:NamedThing actigraphy Use of a portable device (actigraph) to study sleep-wake patterns and circadian rhythms by assessing movement. hp.json http://purl.obolibrary.org/obo/MAXO_0000914 OBO:MAXO_0000915 biolink:NamedThing polysomnography A group of tests (usually central electroencephalogram (EEG) (C3 or C4), reference occipital EEG (O1 or O2), right and left electro-oculogram (EOG), mental or submental electromylogram (EMG), thoracic effort, abdominal effort, nasal and oral airflow, a microphone to record snoring, pulse oxygen saturation, EKG, and video recording to document body positions during sleep) taken during sleep. NCIT:C114185 hp.json PSG http://purl.obolibrary.org/obo/MAXO_0000915 CHEBI:16865 biolink:ChemicalSubstance gamma-aminobutyric acid A gamma-amino acid that is butanoic acid with the amino substituent located at C-4. PMID:10630630|HMDB:HMDB0000112|LIPID_MAPS_instance:LMFA01100039|Gmelin:49775|KNApSAcK:C00001337|PMID:10930630|Beilstein:906818|PMID:16276116|DrugBank:DB02530|Reaxys:906818|MetaCyc:4-AMINO-BUTYRATE|KEGG:C00334|CAS:56-12-2|PMID:22770225|PMID:21614609|KEGG:D00058|PDBeChem:ABU|Wikipedia:Gamma-Aminobutyric_acid|CAS:56-12-2|BPDB:2298|Drug_Central:1262|CAS:56-12-2 hp.json 4-Aminobutyric acid|gamma-amino-n-butyric acid|4-Aminobutanoic acid|piperidinic acid|omega-aminobutyric acid|gamma-aminobutanoic acid|gamma-Aminobuttersaeure|GABA|4Abu|GAMMA-AMINO-BUTANOIC ACID|4-aminobutyric acid|4-aminobutanoic acid|4-aminobutanoic acid|gamma-aminobutyric acid|gamma-Aminobutyric acid|GABA|piperidic acid http://purl.obolibrary.org/obo/CHEBI_16865 3_STAR OBO:MAXO_0000919 biolink:NamedThing dietician evaluation An initial evaluation by a professional trained and qualified to provide nutritional services at individual, institutional and community levels in term of assessing nutritional needs. NCIT:C28248 hp.json nutritionist evaluation http://purl.obolibrary.org/obo/MAXO_0000919 HP:0011623 biolink:PhenotypicFeature Muscular ventricular septal defect The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. Fyler:1320|UMLS:C0685707|SNOMEDCT_US:94706008 hp.json Ventricular septal defect, muscular|Type 4 ventricular septal defect http://purl.obolibrary.org/obo/HP_0011623 HP:0011624 biolink:PhenotypicFeature Apical muscular ventricular septal defect A muscular ventricular septal defect located at the apex of the heart. UMLS:C4023264 hp.json http://purl.obolibrary.org/obo/HP_0011624 HP:0011625 biolink:PhenotypicFeature Multiple muscular ventricular septal defects A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum. UMLS:C4023263 hp.json Swiss cheese ventricular septal defect http://purl.obolibrary.org/obo/HP_0011625 HP:0011626 biolink:PhenotypicFeature Scimitar anomaly Right pulmonary venous return to the inferior vena cava. SNOMEDCT_US:111323005|UMLS:C0036400|ICD-10:Q26.8|SNOMEDCT_US:39905002|MSH:D012587 hp.json Pulmonary venolobar syndrome|Scimitar syndrome http://purl.obolibrary.org/obo/HP_0011626 OBO:MAXO_0000912 biolink:NamedThing assessment for sleep disturbance A measurement or assessment to determine if a patient's sleep is disrupted. hp.json assessement for sleep disorders|sleep assessment|sleep disturbance screening http://purl.obolibrary.org/obo/MAXO_0000912 HP:0011627 biolink:PhenotypicFeature Aorto-ventricular tunnel Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle. UMLS:C4023262 hp.json http://purl.obolibrary.org/obo/HP_0011627 HP:0011628 biolink:PhenotypicFeature Congenital defect of the pericardium A developmental defect of the pericardium with congenital onset. UMLS:C4023261 hp.json http://purl.obolibrary.org/obo/HP_0011628 OBO:MAXO_0000913 biolink:NamedThing sleep assessment questionnaire A questionnaire designed to determine sleep quality, daytime sleepiness, or other issues related to having restful sleep. hp.json http://purl.obolibrary.org/obo/MAXO_0000913 HP:0011629 biolink:PhenotypicFeature Total absence of the pericardium No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. Fyler:1910|SNOMEDCT_US:253732001|UMLS:C0345140 hp.json Absent pericardium|Congenital absence of the pericardium http://purl.obolibrary.org/obo/HP_0011629 HP:0011692 biolink:PhenotypicFeature Supraventricular tachycardia with a concealed accessory pathway on the right free wall UMLS:C4023229 hp.json http://purl.obolibrary.org/obo/HP_0011692 HP:0011693 biolink:PhenotypicFeature Supraventricular tachycardia with a concealed accessory pathway on the septum UMLS:C4023228 hp.json http://purl.obolibrary.org/obo/HP_0011693 HP:0011694 biolink:PhenotypicFeature Supraventricular tachycardia with a manifest accessory pathway UMLS:C4023227 hp.json http://purl.obolibrary.org/obo/HP_0011694 HP:0011695 biolink:PhenotypicFeature Cerebellar hemorrhage Hemorrhage into the parenchyma of the cerebellum. UMLS:C0149854|SNOMEDCT_US:75038005 hp.json Cerebellar haemorrhage http://purl.obolibrary.org/obo/HP_0011695 HP:0008041 biolink:PhenotypicFeature Late onset congenital glaucoma UMLS:C1856441 hp.json http://purl.obolibrary.org/obo/HP_0008041 HP:0011696 biolink:PhenotypicFeature Supraventricular tachycardia with a manifest accessory pathway on the left free wall UMLS:C4023226 hp.json http://purl.obolibrary.org/obo/HP_0011696 HP:0011697 biolink:PhenotypicFeature Supraventricular tachycardia with a manifest accessory pathway on the right free wall UMLS:C4023225 hp.json http://purl.obolibrary.org/obo/HP_0011697 HP:0011698 biolink:PhenotypicFeature Supraventricular tachycardia with a manifest accessory pathway on the septum UMLS:C4023224 hp.json http://purl.obolibrary.org/obo/HP_0011698 HP:0011699 biolink:PhenotypicFeature Atrial reentry tachycardia UMLS:C4023223 hp.json http://purl.obolibrary.org/obo/HP_0011699 UBERON:0035401 biolink:AnatomicalEntity posterior wall of nasopharynx FMA:54907|NCIT:C12243 hp.json posterior nasopharynx http://purl.obolibrary.org/obo/UBERON_0035401 HP:0011690 biolink:PhenotypicFeature Permanent junctional reciprocating tachycardia An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction. UMLS:C0340483|SNOMEDCT_US:233904005 hp.json http://purl.obolibrary.org/obo/HP_0011690 UBERON:0035403 biolink:AnatomicalEntity hypophysial artery An artery that supplies the pituitary gland. hp.json http://purl.obolibrary.org/obo/UBERON_0035403 HP:0011691 biolink:PhenotypicFeature Supraventricular tachycardia with a concealed accessory pathway on the left free wall UMLS:C4023230 hp.json http://purl.obolibrary.org/obo/HP_0011691 CHEBI:16813 biolink:ChemicalSubstance galactitol An optically inactive hexitol having meso-configuration. PMID:22628202|PMID:17336832|KEGG:C01697|Beilstein:1721903|Reaxys:1721903|PMID:16664750|PMID:22654107|HMDB:HMDB0000107|PMID:16901854|CAS:608-66-2|KNApSAcK:C00001160|Wikipedia:Galactitol|PMID:21501963|Gmelin:83163|PMID:22155165|CAS:608-66-2|PMID:23830453|PMID:17979222|CAS:608-66-2|PMID:24643482 hp.json D-Dulcitol|galactitol|(2R,3S,4R,5S)-hexane-1,2,3,4,5,6-hexol|L-galactitol|Melampyrit|Dulcitol|Galactitol|meso-galactitol|Euonymit|Melampyrin|D-galactitol|Dulcose http://purl.obolibrary.org/obo/CHEBI_16813 3_STAR CHEBI:16810 biolink:ChemicalSubstance 2-oxoglutarate(2-) An oxo dicarboxylate obtained by deprotonation of both carboxy groups of 2-oxoglutaric acid. CAS:64-15-3|PMID:11913971|KEGG:C00026|PMID:21196226|PMID:21184277|Beilstein:3664503|PMID:17190852|Reaxys:3664503|PMID:15612731|PMID:24828042|MetaCyc:2-KETOGLUTARATE|PMID:21791173|Gmelin:602479|PMID:19376872 hp.json 2-ketoglutarate|2-oxopentanedioate|alpha-ketoglutarate|2-oxopentanedioic acid, ion(2-)|2-oxoglutarate http://purl.obolibrary.org/obo/CHEBI_16810 3_STAR CHEBI:16811 biolink:ChemicalSubstance methionine A sulfur-containing amino acid that is butyric acid bearing an amino substituent at position 2 and a methylthio substituent at position 4. KEGG:C01733|PMID:22264337|UM-BBD_compID:c0094|CAS:59-51-8|PMID:2543976|KEGG:D04983|Gmelin:3117|CAS:59-51-8|CAS:59-51-8|PMID:16702333|Beilstein:636185|Reaxys:636185|Wikipedia:Methionine hp.json M|Met|DL-Methionine|2-Amino-4-(methylthio)butyric acid|2-amino-4-(methylsulfanyl)butanoic acid|2-amino-4-(methylthio)butanoic acid|methionine|Racemethionine|alpha-amino-gamma-methylmercaptobutyric acid|methionine|Hmet|Methionin|Methionine|metionina http://purl.obolibrary.org/obo/CHEBI_16811 3_STAR HP:0008037 biolink:PhenotypicFeature Absent anterior chamber of the eye Absence of the anterior chamber of the eye owing to a developmental defect. SNOMEDCT_US:55457007|SNOMEDCT_US:404675003|UMLS:C0271004 hp.json http://purl.obolibrary.org/obo/HP_0008037 PR:P27352 biolink:Protein cobalamin binding intrinsic factor (human) A cobalamin binding intrinsic factor that is encoded in the genome of human. UniProtKB:P27352 hp.json CBLIF|INF (human)|IFMH|IF (human)|GIF|intrinsic factor (human)|gastric intrinsic factor (human)|hCBLIF http://purl.obolibrary.org/obo/PR_P27352 HP:0008036 biolink:PhenotypicFeature obsolete Rod-cone dystrophy hp.json http://purl.obolibrary.org/obo/HP_0008036 HP:0008039 biolink:PhenotypicFeature Subepithelial corneal opacities UMLS:C1857307 hp.json http://purl.obolibrary.org/obo/HP_0008039 HP:0008038 biolink:PhenotypicFeature Aplastic/hypoplastic lacrimal glands Absence or underdevelopment of the lacrimal gland. UMLS:C1835602 hp.json Absent/underdeveloped tear glands|Absent/underdeveloped lacrimal glands http://purl.obolibrary.org/obo/HP_0008038 HP:0008033 biolink:PhenotypicFeature obsolete Congenital exotropia hp.json http://purl.obolibrary.org/obo/HP_0008033 HP:0008035 biolink:PhenotypicFeature Retinitis pigmentosa inversa Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). UMLS:C4021559 hp.json Central retinitis pigmentosa http://purl.obolibrary.org/obo/HP_0008035 HP:0008034 biolink:PhenotypicFeature Abnormal iris pigmentation Abnormal pigmentation of the iris. UMLS:C1834387 hp.json http://purl.obolibrary.org/obo/HP_0008034 hposlim_core HP:0011681 biolink:PhenotypicFeature Subarterial ventricular septal defect A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. UMLS:C3165130|Fyler:1330|SNOMEDCT_US:448876006 hp.json Doubly committed ventricular septal defect|Conal ventricular septal defect|Type 1 ventricular septal defect|Infundibular ventricular septal defect|Supracristal ventricular septal defect http://purl.obolibrary.org/obo/HP_0011681 HP:0008051 biolink:PhenotypicFeature obsolete Abnormality of the retinal pigment epithelium hp.json http://purl.obolibrary.org/obo/HP_0008051 HP:0011682 biolink:PhenotypicFeature Perimembranous ventricular septal defect A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. SNOMEDCT_US:109428005|Fyler:1310|UMLS:C0344925 hp.json Conoventricular ventricular septal defect|Type 2 ventricular septal defect|Membranous ventricular septal defect|Paramembranous ventricular septal defect|Perimembraneous ventricular septal defect|Ventricular septal defect, perimembranous http://purl.obolibrary.org/obo/HP_0011682 HP:0008050 biolink:PhenotypicFeature Abnormality of the palpebral fissures An anomaly of the space between the medial and lateral canthi of the two open eyelids. UMLS:C4024750 hp.json Abnormality of the opening between the eyelids|Abnormality of the palpebral fissures|Malformation of the palpebral fissures|Deformity of the palpebral fissures http://purl.obolibrary.org/obo/HP_0008050 HP:0008053 biolink:PhenotypicFeature Aplasia/Hypoplasia of the iris Absence or underdevelopment of the iris. UMLS:C4024748 hp.json Absent/underdeveloped iris|Absent/small iris http://purl.obolibrary.org/obo/HP_0008053 HP:0011683 biolink:PhenotypicFeature Restrictive ventricular septal defect Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD. UMLS:C0344924|SNOMEDCT_US:253551005 hp.json http://purl.obolibrary.org/obo/HP_0011683 CHEBI:28815 biolink:ChemicalSubstance heparan sulfate A linear polysaccharide in which the backbone consists of a variably sulfated repeating disaccharide unit. KEGG:D08536|PMID:8713797|KEGG:C00925|Beilstein:8186767|CAS:9050-30-0|CAS:9050-30-0 hp.json Heparan N-sulfate|Heparitin monosulfate|N-Acetylheparan sulfate|Heparin sulfate|Heparan sulphate|Heparan sulfate|Heparin monosulfate|Heparitin sulfate|Heparatan sulfate http://purl.obolibrary.org/obo/CHEBI_28815 3_STAR HP:0008052 biolink:PhenotypicFeature Retinal fold A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. UMLS:C0229197|SNOMEDCT_US:37480005 hp.json Retinal folds http://purl.obolibrary.org/obo/HP_0008052 HP:0011684 biolink:PhenotypicFeature Non-restrictive ventricular septal defect Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD. SNOMEDCT_US:373131000|UMLS:C1298817 hp.json http://purl.obolibrary.org/obo/HP_0011684 HP:0011685 biolink:PhenotypicFeature Infra-aortic superior vena cava The superior vena cava passes below the aortic arch. UMLS:C4023232 hp.json http://purl.obolibrary.org/obo/HP_0011685 HP:0011686 biolink:PhenotypicFeature Abnormal coronary artery course An abnormal path of a coronary artery. SNOMEDCT_US:253714001|UMLS:C0345122 hp.json Anomalous coronary artery course http://purl.obolibrary.org/obo/HP_0011686 HP:0011687 biolink:PhenotypicFeature AV nodal tachycardia A type of supraventricular tachycardia that originates in the atrioventricular node. UMLS:C0857265 hp.json AV nodal tachycardia|Atrioventricular nodal tachycardia http://purl.obolibrary.org/obo/HP_0011687 HP:0011688 biolink:PhenotypicFeature Supraventricular tachycardia with an accessory connection mediated pathway Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. UMLS:C4021132 hp.json Atrioventricular re-entry tachycardia|Supraventricular tachycardia with an accessory connexion mediated pathway http://purl.obolibrary.org/obo/HP_0011688 HP:0011680 biolink:PhenotypicFeature Single ventricle of indeterminate morphology UMLS:C4023233 hp.json http://purl.obolibrary.org/obo/HP_0011680 HP:0008048 biolink:PhenotypicFeature Abnormal line of Schwalbe morphology An abnormality of the line of Schwalbe. UMLS:C4021856 hp.json Abnormality of the line of Schwalbe http://purl.obolibrary.org/obo/HP_0008048 HP:0011689 biolink:PhenotypicFeature Supraventricular tachycardia with a concealed accessory connection Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm. UMLS:C4023231 hp.json Supraventricular tachycardia with a concealed accessory connexion http://purl.obolibrary.org/obo/HP_0011689 HP:0008047 biolink:PhenotypicFeature Abnormality of the vasculature of the eye UMLS:C4024752 hp.json Abnormality of eye blood vessels http://purl.obolibrary.org/obo/HP_0008047 HP:0008049 biolink:PhenotypicFeature Abnormality of the extraocular muscles An abnormality of an extraocular muscle. UMLS:C4024751 hp.json http://purl.obolibrary.org/obo/HP_0008049 HP:0008043 biolink:PhenotypicFeature Retinal arteriolar constriction Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. UMLS:C2176208 hp.json Retinal arteriolar narrowing|Constricted retinal arterioles|Narrow retinal arterioles http://purl.obolibrary.org/obo/HP_0008043 HP:0008046 biolink:PhenotypicFeature Abnormal retinal vascular morphology A structural abnormality of retinal vasculature. UMLS:C4024753 hp.json Abnormality of the retinal vasculature|Abnormality of retina blood vessels http://purl.obolibrary.org/obo/HP_0008046 HP:0008045 biolink:PhenotypicFeature Enlarged flash visual evoked potentials UMLS:C4021558 hp.json High flash visual evoked potentials http://purl.obolibrary.org/obo/HP_0008045 HP:0011670 biolink:PhenotypicFeature Left superior vena cava draining to coronary sinus A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. ICD-10:Q26.1|UMLS:C2677768 hp.json http://purl.obolibrary.org/obo/HP_0011670 HP:0011671 biolink:PhenotypicFeature Interrupted inferior vena cava with azygous continuation Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. UMLS:C4023237|ICD-10:26.8 hp.json http://purl.obolibrary.org/obo/HP_0011671 HP:0008020 biolink:PhenotypicFeature Cone dystrophy Inherited progressive cone degeneration. UMLS:C3665342|UMLS:C0730290 hp.json Progressive cone dystrophy|Progressive cone degeneration http://purl.obolibrary.org/obo/HP_0008020 HP:0011672 biolink:PhenotypicFeature Cardiac myxoma A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber. SNOMEDCT_US:426191007|UMLS:C1960546|NCIT:C6577 hp.json http://purl.obolibrary.org/obo/HP_0011672 HP:0011673 biolink:PhenotypicFeature Cardiac hemangioma Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium. UMLS:C1707298|NCIT:C3085 hp.json http://purl.obolibrary.org/obo/HP_0011673 HP:0011674 biolink:PhenotypicFeature Cardiac teratoma A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone. NCIT:C3403|UMLS:C1112387 hp.json http://purl.obolibrary.org/obo/HP_0011674 HP:0011675 biolink:PhenotypicFeature Arrhythmia Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. SNOMEDCT_US:698247007|SNOMEDCT_US:102594003|UMLS:C0264886|UMLS:C0003811|MSH:D001145|UMLS:C1832603|UMLS:C0855329|UMLS:C1842820|SNOMEDCT_US:44808001|MSH:C562490|UMLS:C0522055 hp.json Irregular heart beat|Cardiac arrhythmia|Arrhythmias|Cardiac arrhythmias|Cardiac rhythm disturbances|Heart rhythm disorders|Abnormal heart rate|Irregular heartbeat http://purl.obolibrary.org/obo/HP_0011675 HP:0011676 biolink:PhenotypicFeature Tetralogy of Fallot with absent subarterial conus UMLS:C4023236 hp.json http://purl.obolibrary.org/obo/HP_0011676 HP:0011677 biolink:PhenotypicFeature Tetralogy of Fallot with atrioventricular canal defect UMLS:C4023235 hp.json http://purl.obolibrary.org/obo/HP_0011677 HP:0008019 biolink:PhenotypicFeature Superior lens subluxation Partial dislocation of the lens in a superior direction. UMLS:C2036843 hp.json Superior subluxated lens http://purl.obolibrary.org/obo/HP_0008019 CHEBI:16831 biolink:ChemicalSubstance 3-hydroxy-3-methylglutaric acid A dicarboxylic acid that is glutaric acid in which one of the two hydrogens at position 3 is substituted by a hydroxy group, while the other is substituted by a methyl group. It has been found to accumulate in urine of patients suffering from HMG-CoA lyase (3-hydroxy-3-methylglutaryl-CoA lyase, EC 4.1.3.4) deficiency. It occurs as a plant metabolite in Crotalaria dura. Drug_Central:1670|KEGG:D04897|PMID:9658458|PDBeChem:MAH|PMID:10916782|KEGG:C03761|Reaxys:1769194|Beilstein:1769194|HMDB:HMDB0000355|PMID:3063529|PMID:6083597|PMID:4717513|DrugBank:DB04377|CAS:503-49-1|CAS:503-49-1|PMID:17941049|KNApSAcK:C00001187|MetaCyc:CPD-547 hp.json meglutolum|3-hydroxy-3-methylpentanedioic acid|(S)-3-Hydroxy-3-methylglutaric acid|Dicrotalic acid|3-HYDROXY-3-METHYL-GLUTARIC ACID|beta-Hydroxy-beta-methylglutaric acid|meglutol|meglutol|(S)-Meglutol|3-Hydroxy-3-methylpentanedioic acid|beta-hydroxy-beta-methylglutaric acid http://purl.obolibrary.org/obo/CHEBI_16831 3_STAR HP:0011678 biolink:PhenotypicFeature Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA). UMLS:C4023234 hp.json http://purl.obolibrary.org/obo/HP_0011678 HP:0011679 biolink:PhenotypicFeature Tetralogy of Fallot with pulmonary stenosis The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. SNOMEDCT_US:253512000|UMLS:C0344881 hp.json http://purl.obolibrary.org/obo/HP_0011679 HP:0008014 biolink:PhenotypicFeature Central fundal arteriolar microaneurysms Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc. UMLS:C4024755 hp.json http://purl.obolibrary.org/obo/HP_0008014 HP:0008017 biolink:PhenotypicFeature obsolete Depigmented lesions of the retinal pigment epithelium hp.json http://purl.obolibrary.org/obo/HP_0008017 HP:0008011 biolink:PhenotypicFeature Peripheral opacification of the cornea Reduced transparency of the peripheral region of the cornea. UMLS:C0155100|SNOMEDCT_US:55713007 hp.json Peripheral corneal opacity http://purl.obolibrary.org/obo/HP_0008011 HP:0008012 biolink:PhenotypicFeature obsolete Congenital myopia hp.json http://purl.obolibrary.org/obo/HP_0008012 HP:0011660 biolink:PhenotypicFeature Anomalous origin of one pulmonary artery from ascending aorta Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. UMLS:C4021134|Fyler:550|Fyler:0550 hp.json Hemitruncus http://purl.obolibrary.org/obo/HP_0011660 HP:0011661 biolink:PhenotypicFeature Anomalous origin of left pulmonary artery from ascending aorta The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. SNOMEDCT_US:253637002|UMLS:C0345040 hp.json http://purl.obolibrary.org/obo/HP_0011661 HP:0008031 biolink:PhenotypicFeature Posterior Y-sutural cataract A type of sutural cataract in which the opacity follows the posterior Y suture. UMLS:C4021560 hp.json Posterior Y-sutural cataracts http://purl.obolibrary.org/obo/HP_0008031 HP:0011662 biolink:PhenotypicFeature Tricuspid atresia Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. Fyler:400|ICD-10:Q22.4|SNOMEDCT_US:63042009|SNOMEDCT_US:253455004|UMLS:C0243002|MSH:D018785|Fyler:0400|EPCC:06.01.01 hp.json Tricuspid valve atresia http://purl.obolibrary.org/obo/HP_0011662 HP:0008030 biolink:PhenotypicFeature Retinal arteritis UMLS:C0271069|SNOMEDCT_US:11255009 hp.json http://purl.obolibrary.org/obo/HP_0008030 HP:0011663 biolink:PhenotypicFeature Right ventricular cardiomyopathy Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. UMLS:C2063326 hp.json Cardiomyopathy, right ventricular|Cardiomyopathy, esp. right ventricular http://purl.obolibrary.org/obo/HP_0011663 HP:0011664 biolink:PhenotypicFeature Left ventricular noncompaction cardiomyopathy Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. UMLS:C4021133 hp.json Left ventricular non-compaction cardiomyopathy http://purl.obolibrary.org/obo/HP_0011664 HP:0011665 biolink:PhenotypicFeature Takotsubo cardiomyopathy Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation. SNOMEDCT_US:441541008|UMLS:C1739395|MSH:D054549 hp.json Broken-heart syndrome http://purl.obolibrary.org/obo/HP_0011665 HP:0011666 biolink:PhenotypicFeature Absent right superior vena cava Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium. SNOMEDCT_US:253308005|UMLS:C0344656 hp.json http://purl.obolibrary.org/obo/HP_0011666 GO:0051904 biolink:BiologicalProcess pigment granule transport The directed movement of pigment granules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json pigment granule translocation http://purl.obolibrary.org/obo/GO_0051904 GO:0051905 biolink:BiologicalProcess establishment of pigment granule localization The directed movement of a pigment granule to a specific location. hp.json establishment of pigment granule localisation http://purl.obolibrary.org/obo/GO_0051905 UBERON:0035431 biolink:AnatomicalEntity mediastinal pleura The parietal pleura that lines the mediastinum. NCIT:C94820|FMA:9736 hp.json pars mediastinalis (pleurae)|pars mediastinalis pleurae parietalis|mediastinal part of parietal pleura http://purl.obolibrary.org/obo/UBERON_0035431 CHEBI:16827 biolink:ChemicalSubstance corticosterone A 21-hydroxy steroid that consists of pregn-4-ene substituted by hydroxy groups at positions 11 and 21 and oxo groups at positions 3 and 20. Corticosterone is a 21-carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands. Wikipedia:Corticosterone|PMID:24446162|MetaCyc:CORTICOSTERONE|PDBeChem:C0R|PMID:16817814|PMID:11448093|HMDB:HMDB0001547|LIPID_MAPS_instance:LMST02030186|CAS:50-22-6|KEGG:C02140|Beilstein:2339601|PMID:10438974|CAS:50-22-6|LINCS:LSM-5814|CAS:50-22-6 hp.json 11beta,21-dihydroxyprogesterone|(11beta)-11,21-dihydroxypregn-4-ene-3,20-dione|Corticosterone|CORTICOSTERONE|Reichstein's substance H|Kendall's compound B|corticosterone|11beta,21-dihydroxypregn-4-ene-3,20-dione|17-deoxycortisol|11beta,21-Dihydroxy-4-pregnene-3,20-dione http://purl.obolibrary.org/obo/CHEBI_16827 3_STAR UBERON:0035435 biolink:AnatomicalEntity right suprarenal vein A vein that drains blood from the right adrenal gland into the inferior vena cava. NCIT:C53131|FMA:14343 hp.json vena suprarenalis (adrenalis) dextra http://purl.obolibrary.org/obo/UBERON_0035435 human_reference_atlas HP:0011667 biolink:PhenotypicFeature Bilateral superior vena cava with bridging vein UMLS:C4023240 hp.json http://purl.obolibrary.org/obo/HP_0011667 HP:0008026 biolink:PhenotypicFeature Horizontal opticokinetic nystagmus UMLS:C4024754 hp.json http://purl.obolibrary.org/obo/HP_0008026 HP:0011668 biolink:PhenotypicFeature Bilateral superior vena cava with no bridging vein UMLS:C4023239 hp.json http://purl.obolibrary.org/obo/HP_0011668 HP:0011669 biolink:PhenotypicFeature Left superior vena cava draining directly to the left atrium A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt. UMLS:C4023238 hp.json http://purl.obolibrary.org/obo/HP_0011669 HP:0008028 biolink:PhenotypicFeature Cystoid macular degeneration A form of macular degeneration characterized by the presence of multiple cysts in the macula. UMLS:C0154850|SNOMEDCT_US:14046000 hp.json Cystic macular degeneration http://purl.obolibrary.org/obo/HP_0008028 HP:0008024 biolink:PhenotypicFeature obsolete Congenital nuclear cataract hp.json http://purl.obolibrary.org/obo/HP_0008024 GO:0000323 biolink:CellularComponent lytic vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. hp.json http://purl.obolibrary.org/obo/GO_0000323 CHEBI:38260 biolink:ChemicalSubstance pyrrolidines Any of a class of heterocyclic amines having a saturated five-membered ring. hp.json http://purl.obolibrary.org/obo/CHEBI_38260 3_STAR CHEBI:26271 biolink:ChemicalSubstance proline An alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2. PMID:21903295|PMID:21400017|PMID:22280966|CAS:609-36-9|PMID:16534801|PMID:22264337|CAS:609-36-9|CAS:609-36-9|Gmelin:26927|PMID:22770225|Beilstein:80809|Reaxys:80809|Wikipedia:Proline|KEGG:C16435 hp.json proline|Hpro|Prolin|proline|DL-Proline|pyrrolidine-2-carboxylic acid|prolina http://purl.obolibrary.org/obo/CHEBI_26271 3_STAR CHEBI:26273 biolink:ChemicalSubstance proline derivative An amino acid derivative resulting from reaction of proline at the amino group or the carboxy group, or from the replacement of any hydrogen of proline by a heteroatom. The definition normally excludes peptides containing proline residues. hp.json proline derivatives http://purl.obolibrary.org/obo/CHEBI_26273 3_STAR GO:0097212 biolink:BiologicalProcess lysosomal membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosomal membrane. A lysosomal membrane is the lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. hp.json lysosome membrane organization|lysosomal membrane organisation http://purl.obolibrary.org/obo/GO_0097212 GO:1903489 biolink:NamedThing positive regulation of lactation hp.json http://purl.obolibrary.org/obo/GO_1903489 GO:1903488 biolink:NamedThing negative regulation of lactation hp.json http://purl.obolibrary.org/obo/GO_1903488 GO:1903487 biolink:NamedThing regulation of lactation hp.json http://purl.obolibrary.org/obo/GO_1903487 GO:0000313 biolink:CellularComponent organellar ribosome A ribosome contained within a subcellular membrane-bounded organelle. hp.json http://purl.obolibrary.org/obo/GO_0000313 GO:0061298 biolink:BiologicalProcess retina vasculature development in camera-type eye The process whose specific outcome is the progression of the vasculature of the retina over time, from its formation to the mature structure. hp.json retinal vasculature development http://purl.obolibrary.org/obo/GO_0061298 GO:0061299 biolink:BiologicalProcess retina vasculature morphogenesis in camera-type eye The process in which the vasculature of the retina is generated and organized. hp.json retinal vasculature morphogenesis http://purl.obolibrary.org/obo/GO_0061299 GO:0097272 biolink:BiologicalProcess ammonium homeostasis Any biological process involved in the maintenance of an internal steady state of ammonium. hp.json ammonia homeostasis http://purl.obolibrary.org/obo/GO_0097272 HP:0011610 biolink:PhenotypicFeature Type IV truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present. Fyler:0540|UMLS:C4021135|Fyler:540 hp.json Persistent truncus arteriosus type IV|Type 4 truncus arteriosus http://purl.obolibrary.org/obo/HP_0011610 GO:0097275 biolink:BiologicalProcess cellular ammonium homeostasis Any biological process involved in the maintenance of an internal steady state of ammonium at the level of the cell. hp.json cellular ammonia homeostasis http://purl.obolibrary.org/obo/GO_0097275 HP:0011611 biolink:PhenotypicFeature Interrupted aortic arch Non-continuity of the arch of aorta with an atretic point or absent segment. SNOMEDCT_US:218728005|UMLS:C0152419|Fyler:1241|Fyler:1250 hp.json Aortic arch obstruction|Atretic transverse aortic arch http://purl.obolibrary.org/obo/HP_0011611 CHEBI:41865 biolink:ChemicalSubstance sebacic acid An alpha,omega-dicarboxylic acid that is the 1,8-dicarboxy derivative of octane. PMID:22770225|LIPID_MAPS_instance:LMFA01170006|PDBeChem:DEC|MetaCyc:CPD-3623|CAS:111-20-6|Gmelin:102423|CAS:111-20-6|KEGG:C08277|CAS:111-20-6|PMID:9439441|HMDB:HMDB0000792|Beilstein:1210591|KNApSAcK:C00001202|DrugBank:DB07645|Reaxys:1210591|Wikipedia:Sebacic_acid hp.json 1,10-decanedioic acid|SEBACIC ACID|Sebacinsaeure|Decanedioic acid|1,8-dicarboxyoctane|decanedioic acid|Sebacic acid http://purl.obolibrary.org/obo/CHEBI_41865 3_STAR HP:0011612 biolink:PhenotypicFeature Interrupted aortic arch type A Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus. SNOMEDCT_US:253681005|UMLS:C0345092 hp.json http://purl.obolibrary.org/obo/HP_0011612 HP:0011613 biolink:PhenotypicFeature Interrupted aortic arch type B Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries. SNOMEDCT_US:253682003|Fyler:1252|UMLS:C0345093 hp.json Interrupted aortic arch, type b http://purl.obolibrary.org/obo/HP_0011613 HP:0011614 biolink:PhenotypicFeature Interrupted aortic arch type C Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries. SNOMEDCT_US:253683008|UMLS:C0345094 hp.json http://purl.obolibrary.org/obo/HP_0011614 HP:0011615 biolink:PhenotypicFeature Abnormal pulmonary situs morphology An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi. UMLS:C4023271 hp.json Abnormality of pulmonary situs http://purl.obolibrary.org/obo/HP_0011615 HP:0011616 biolink:PhenotypicFeature Pulmonary situs inversus Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus. UMLS:C4023270 hp.json http://purl.obolibrary.org/obo/HP_0011616 HP:0011617 biolink:PhenotypicFeature Pulmonary situs ambiguus An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same. UMLS:C4023269 hp.json http://purl.obolibrary.org/obo/HP_0011617 HP:0011618 biolink:PhenotypicFeature Pulmonary situs ambiguus with bilateral morphologic right lungs An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung. UMLS:C4023268 hp.json http://purl.obolibrary.org/obo/HP_0011618 HP:0011619 biolink:PhenotypicFeature Pulmonary situs ambiguus with bilateral morphologic left lungs An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung. UMLS:C4023267 hp.json http://purl.obolibrary.org/obo/HP_0011619 GO:0097283 biolink:BiologicalProcess keratinocyte apoptotic process Any apoptotic process in a keratinocyte. A keratinocyte is an epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. hp.json keratinocyte apoptosis http://purl.obolibrary.org/obo/GO_0097283 HP:0011600 biolink:PhenotypicFeature Abnormal direction of ventricular apex Abnormal plane of direction of the heart from the base to the apex. Left sided is normal. UMLS:C4023275 hp.json http://purl.obolibrary.org/obo/HP_0011600 CHEBI:28892 biolink:ChemicalSubstance ganglioside A molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain. PMID:2088646|KEGG:C01808|LIPID_MAPS_class:LMSP0601|PMID:16158191|Wikipedia:Ganglioside hp.json gangliosides|sialoglycosphingolipids|gangliosides|Ganglioside http://purl.obolibrary.org/obo/CHEBI_28892 3_STAR HP:0011609 biolink:PhenotypicFeature Type III truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta. UMLS:C4021136|Fyler:530|Fyler:0530 hp.json Persistent truncus arteriosus type III|Type 3 truncus arteriosus http://purl.obolibrary.org/obo/HP_0011609 HP:0011601 biolink:PhenotypicFeature Rightward direction of ventricular apex Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal. UMLS:C4023274 hp.json http://purl.obolibrary.org/obo/HP_0011601 HP:0011602 biolink:PhenotypicFeature Midline direction of ventricular apex Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal. UMLS:C4023273 hp.json http://purl.obolibrary.org/obo/HP_0011602 HP:0011603 biolink:PhenotypicFeature Congenital malformation of the great arteries Defect or defects of the morphogenesis of the aorta and pulmonary arteries. UMLS:C0478012 hp.json http://purl.obolibrary.org/obo/HP_0011603 HP:0011604 biolink:PhenotypicFeature Aortopulmonary window A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt. UMLS:C0003516|SNOMEDCT_US:17024001|Fyler:560|Fyler:0560|MSH:D001028 hp.json http://purl.obolibrary.org/obo/HP_0011604 HP:0011605 biolink:PhenotypicFeature Congenitally corrected transposition of the great arteries with ventricular septal defect A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum. UMLS:C4023272 hp.json ccTGA|CCTGA http://purl.obolibrary.org/obo/HP_0011605 HP:0011606 biolink:PhenotypicFeature obsolete Transposition of the great arteries with intact ventricular septum hp.json http://purl.obolibrary.org/obo/HP_0011606 HP:0011607 biolink:PhenotypicFeature obsolete Transposition of the great arteries with ventricular septal defect hp.json http://purl.obolibrary.org/obo/HP_0011607 HP:0011608 biolink:PhenotypicFeature Type II truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus. Fyler:520|Fyler:0520|UMLS:C4021137 hp.json Persistent truncus arteriosus type II|Type 2 truncus arteriosus http://purl.obolibrary.org/obo/HP_0011608 CHEBI:28868 biolink:ChemicalSubstance fatty acid anion The conjugate base of a fatty acid, arising from deprotonation of the carboxylic acid group of the corresponding fatty acid. PMID:18628202|KEGG:C02403 hp.json Fatty acid anion|Fettsaeureanionen|a fatty acid|Alkanate|Fettsaeureanion|anion de l'acide gras|fatty acid anions|acidos grasos anionicos|acido graso anionico http://purl.obolibrary.org/obo/CHEBI_28868 3_STAR GO:0002920 biolink:BiologicalProcess regulation of humoral immune response Any process that modulates the frequency, rate, or extent of a humoral immune response. hp.json http://purl.obolibrary.org/obo/GO_0002920 GO:0014909 biolink:BiologicalProcess smooth muscle cell migration The orderly movement of a smooth muscle cell from one site to another, often during the development of a multicellular organism. hp.json http://purl.obolibrary.org/obo/GO_0014909 GO:0002921 biolink:BiologicalProcess negative regulation of humoral immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a humoral immune response. hp.json inhibition of humoral immune response|downregulation of humoral immune response|down-regulation of humoral immune response|down regulation of humoral immune response http://purl.obolibrary.org/obo/GO_0002921 GO:0097252 biolink:BiologicalProcess oligodendrocyte apoptotic process Any apoptotic process in an oligodendrocyte. Oligodendrocytes belong to a class of large neuroglial (macroglial) cells in the central nervous system, where they form the insulating myelin sheath of axons. hp.json oligodendrocyte apoptosis http://purl.obolibrary.org/obo/GO_0097252 GO:0014904 biolink:BiologicalProcess myotube cell development The process aimed at the progression of a myotube cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. hp.json http://purl.obolibrary.org/obo/GO_0014904 GO:0014902 biolink:BiologicalProcess myotube differentiation The process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotube differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step). Then individual myotubes can fuse to form bigger myotubes and start to contract. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. hp.json http://purl.obolibrary.org/obo/GO_0014902 PR:P17931 biolink:Protein galectin-3 (human) A galectin-3 that is encoded in the genome of human. UniProtKB:P17931 hp.json MAC2|hLGALS3|35 kDa lectin (human)|carbohydrate-binding protein 35 (human)|galactose-specific lectin 3 (human)|IgE-binding protein (human)|Mac-2 antigen (human)|CBP 35 (human)|galactoside-binding protein (human)|GALBP (human)|L-31 (human)|laminin-binding protein (human)|lectin L-29 (human)|LGALS3|gal-3 (human) http://purl.obolibrary.org/obo/PR_P17931 GO:0002922 biolink:BiologicalProcess positive regulation of humoral immune response Any process that activates or increases the frequency, rate, or extent of a humoral immune response. hp.json up-regulation of humoral immune response|up regulation of humoral immune response|activation of humoral immune response|stimulation of humoral immune response|upregulation of humoral immune response http://purl.obolibrary.org/obo/GO_0002922 CHEBI:26217 biolink:ChemicalSubstance potassium molecular entity hp.json potassium molecular entity|potassium molecular entities http://purl.obolibrary.org/obo/CHEBI_26217 3_STAR GO:0002932 biolink:BiologicalProcess tendon sheath development The process whose specific outcome is the progression of a tendon sheath over time, from its formation to the mature structure. A tendon sheath is a layer of membrane around a tendon. It permits the tendon to move. hp.json http://purl.obolibrary.org/obo/GO_0002932 CHEBI:28875 biolink:ChemicalSubstance tetradecanoic acid A straight-chain, fourteen-carbon, long-chain saturated fatty acid mostly found in milk fat. LIPID_MAPS_instance:LMFA01010014|PMID:19902021|CAS:544-63-8|PMID:19154695|CAS:544-63-8|HMDB:HMDB0000806|PMID:27206979|PMID:22030224|PMID:20920594|PMID:28600633|PMID:15149689|PDBeChem:MYR|Beilstein:508624|PMID:19955401|PMID:16554156|PMID:19786012|PMID:16509590|Reaxys:508624|PMID:20634506|KEGG:C06424|Gmelin:242115|PMID:13129458|MetaCyc:CPD-7836|PMID:21955528|DrugBank:DB08231|PMID:19761868|Wikipedia:Myristic_acid|CAS:544-63-8|PMID:6802973|KNApSAcK:C00001228 hp.json acide tetradecanoique|MYRISTIC ACID|myristic acid|Tetradecanoic acid|1-tetradecanecarboxylic acid|Myristinsaeure|14:0|n-Tetradecoic acid|n-tetradecanoic acid|14:00|CH3-[CH2]12-COOH|C14|n-Tetradecan-1-oic acid|Myristic acid|tetradecoic acid|14 http://purl.obolibrary.org/obo/CHEBI_28875 3_STAR CHEBI:26214 biolink:ChemicalSubstance porphyrins Natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Wikipedia:Porphyrin hp.json porphyrins http://purl.obolibrary.org/obo/CHEBI_26214 3_STAR CHEBI:26216 biolink:ChemicalSubstance potassium atom DrugBank:DB01345|KEGG:C00238|CAS:7440-09-7|WebElements:K hp.json 19K|Kalium|potasio|kalium|K|potassium|potassium http://purl.obolibrary.org/obo/CHEBI_26216 3_STAR GO:0014912 biolink:BiologicalProcess negative regulation of smooth muscle cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle cell migration. hp.json http://purl.obolibrary.org/obo/GO_0014912 GO:0014911 biolink:BiologicalProcess positive regulation of smooth muscle cell migration Any process that activates, maintains or increases the frequency, rate or extent of smooth muscle cell migration. hp.json http://purl.obolibrary.org/obo/GO_0014911 GO:0014910 biolink:BiologicalProcess regulation of smooth muscle cell migration Any process that modulates the frequency, rate or extent of smooth muscle cell migration. hp.json http://purl.obolibrary.org/obo/GO_0014910 GO:0051875 biolink:BiologicalProcess pigment granule localization Any process in which a pigment granule is transported to, and/or maintained in, a specific location within the cell. hp.json pigment granule localisation http://purl.obolibrary.org/obo/GO_0051875 GO:0051873 biolink:BiologicalProcess killing by host of symbiont cells Any process mediated by an organism that results in the death of cells in the symbiont organism. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction. hp.json disruption by host of symbiont cells http://purl.obolibrary.org/obo/GO_0051873 GO:0000280 biolink:BiologicalProcess nuclear division The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. hp.json karyokinesis http://purl.obolibrary.org/obo/GO_0000280 goslim_pir CHEBI:90799 biolink:ChemicalSubstance dipeptide zwitterion Any peptide zwitterion comprising two amino acid residues. Major structure at pH 7.3. hp.json a dipeptide http://purl.obolibrary.org/obo/CHEBI_90799 3_STAR GO:0061205 biolink:BiologicalProcess paramesonephric duct development The process whose specific outcome is the progression of the paramesonephric duct over time, from its formation to the mature structure. Mullerian ducts (or paramesonephric ducts) are paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, cervix, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin. hp.json Mullerian duct development http://purl.obolibrary.org/obo/GO_0061205 GO:0036230 biolink:BiologicalProcess granulocyte activation The change in morphology and behavior of a granulocyte resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. hp.json http://purl.obolibrary.org/obo/GO_0036230 GO:0048232 biolink:BiologicalProcess male gamete generation Generation of the male gamete; specialised haploid cells produced by meiosis and along with a female gamete takes part in sexual reproduction. hp.json http://purl.obolibrary.org/obo/GO_0048232 CHEBI:133580 biolink:ChemicalSubstance N-hexanoylglycinate A monocarboxylic acid anion that is the conjugate base of N-hexanoylglycine, obtained by deprotonation of the carboxy group; major species at pH 7.3. hp.json N-hexanoylglycine|(hexanoylamino)acetate|N-hexanoylglycine anion|N-hexanoylglycine(1-)|N-caproylglycinate http://purl.obolibrary.org/obo/CHEBI_133580 3_STAR GO:0048243 biolink:BiologicalProcess norepinephrine secretion The regulated release of norepinephrine by a cell. Norepinephrine is a catecholamine and it acts as a hormone and as a neurotransmitter of most of the sympathetic nervous system. hp.json noradrenaline secretion http://purl.obolibrary.org/obo/GO_0048243 GO:0048240 biolink:NamedThing sperm capacitation hp.json http://purl.obolibrary.org/obo/GO_0048240 GO:0048247 biolink:BiologicalProcess lymphocyte chemotaxis The directed movement of a lymphocyte in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0048247 GO:0048246 biolink:BiologicalProcess macrophage chemotaxis The movement of a macrophage in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0048246 GO:0036211 biolink:BiologicalProcess protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). hp.json cellular protein modification process|process resulting in protein modification|protein modification http://purl.obolibrary.org/obo/GO_0036211 goslim_plant|goslim_pir|goslim_chembl|goslim_candida|goslim_generic|prokaryote_subset GO:0051892 biolink:BiologicalProcess negative regulation of cardioblast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of cardioblast differentiation, the process in which a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. hp.json down regulation of cardioblast differentiation|downregulation of cardioblast differentiation|inhibition of cardioblast differentiation|down-regulation of cardioblast differentiation http://purl.obolibrary.org/obo/GO_0051892 GO:0051890 biolink:BiologicalProcess regulation of cardioblast differentiation Any process that modulates the frequency, rate or extent of cardioblast differentiation, the process in which a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. hp.json http://purl.obolibrary.org/obo/GO_0051890 GO:0051891 biolink:BiologicalProcess positive regulation of cardioblast differentiation Any process that activates or increases the frequency, rate or extent of cardioblast differentiation, the process in which a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. hp.json up-regulation of cardioblast differentiation|up regulation of cardioblast differentiation|activation of cardioblast differentiation|stimulation of cardioblast differentiation|upregulation of cardioblast differentiation http://purl.obolibrary.org/obo/GO_0051891 GO:0048251 biolink:BiologicalProcess elastic fiber assembly Assembly of the extracellular matrix fibers that enables the matrix to recoil after transient stretching. hp.json elastin fiber assembly|elastin fibre assembly|elastic fibre assembly http://purl.obolibrary.org/obo/GO_0048251 GO:0000278 biolink:BiologicalProcess mitotic cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. Wikipedia:Mitosis hp.json mitosis http://purl.obolibrary.org/obo/GO_0000278 goslim_drosophila|goslim_chembl|goslim_yeast|goslim_generic GO:0000272 biolink:NamedThing polysaccharide catabolic process hp.json http://purl.obolibrary.org/obo/GO_0000272 GO:0000271 biolink:BiologicalProcess polysaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. hp.json polysaccharide anabolism|polysaccharide biosynthesis|glycan biosynthesis|glycan biosynthetic process|polysaccharide synthesis|polysaccharide formation http://purl.obolibrary.org/obo/GO_0000271 CHEBI:51151 biolink:ChemicalSubstance dipolar compound An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. hp.json dipolar compounds http://purl.obolibrary.org/obo/CHEBI_51151 3_STAR GO:1903429 biolink:BiologicalProcess regulation of cell maturation Any process that modulates the frequency, rate or extent of cell maturation. hp.json regulation of functional differentiation http://purl.obolibrary.org/obo/GO_1903429 GO:1903430 biolink:BiologicalProcess negative regulation of cell maturation Any process that stops, prevents or reduces the frequency, rate or extent of cell maturation. hp.json down regulation of cell maturation|down regulation of functional differentiation|down-regulation of functional differentiation|negative regulation of functional differentiation|inhibition of cell maturation|downregulation of cell maturation|inhibition of functional differentiation|downregulation of functional differentiation|down-regulation of cell maturation http://purl.obolibrary.org/obo/GO_1903430 CHEBI:26191 biolink:ChemicalSubstance polyol A compound that contains two or more hydroxy groups. hp.json polyols http://purl.obolibrary.org/obo/CHEBI_26191 3_STAR NCBITaxon:2058185 biolink:OrganismalEntity Dictyosteliaceae GC_ID:1|PMID:29367151 hp.json http://purl.obolibrary.org/obo/NCBITaxon_2058185 GO:0014888 biolink:BiologicalProcess striated muscle adaptation Any process in which striated muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. These adaptive events occur in both muscle fibers and associated structures (motoneurons and capillaries), and they involve alterations in regulatory mechanisms, contractile properties and metabolic capacities. hp.json striated muscle plasticity http://purl.obolibrary.org/obo/GO_0014888 GO:0014887 biolink:BiologicalProcess cardiac muscle adaptation The process in which cardiac muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. hp.json cardiac muscle plasticity http://purl.obolibrary.org/obo/GO_0014887 CHEBI:51143 biolink:ChemicalSubstance nitrogen molecular entity KEGG:C06061 hp.json nitrogen molecular entities|Nitrogenous compounds|nitrogen compounds http://purl.obolibrary.org/obo/CHEBI_51143 3_STAR CHEBI:38166 biolink:ChemicalSubstance organic heteropolycyclic compound hp.json organic heteropolycyclic compounds http://purl.obolibrary.org/obo/CHEBI_38166 3_STAR CHEBI:38180 biolink:ChemicalSubstance polycyclic heteroarene hp.json polycyclic heteroarenes http://purl.obolibrary.org/obo/CHEBI_38180 3_STAR GO:1903431 biolink:BiologicalProcess positive regulation of cell maturation Any process that activates or increases the frequency, rate or extent of cell maturation. hp.json activation of functional differentiation|upregulation of functional differentiation|up-regulation of cell maturation|up regulation of cell maturation|positive regulation of functional differentiation|activation of cell maturation|up regulation of functional differentiation|upregulation of cell maturation|up-regulation of functional differentiation http://purl.obolibrary.org/obo/GO_1903431 GO:0014896 biolink:BiologicalProcess muscle hypertrophy The muscle system process that results in enlargement or overgrowth of all or part of a muscle organ due to an increase in the size of its muscle cells. Physiological hypertrophy is a normal process during development (it stops in cardiac muscle after adolescence) and can also be brought on in response to demand. In athletes cardiac and skeletal muscles undergo hypertrophy stimulated by increasing muscle activity on exercise. Smooth muscle cells in the uterus undergo hypertrophy during pregnancy. Wikipedia:Muscle_hypertrophy hp.json http://purl.obolibrary.org/obo/GO_0014896 GO:1903441 biolink:BiologicalProcess protein localization to ciliary membrane A process in which a protein is transported to, or maintained in, a location within a ciliary membrane. hp.json protein localisation to ciliary membrane|protein localization in ciliary membrane|protein localisation in ciliary membrane http://purl.obolibrary.org/obo/GO_1903441 GO:0014895 biolink:BiologicalProcess smooth muscle hypertrophy The enlargement or overgrowth of all or part of an organ due to an increase in size of its smooth muscle cells without cell division. Physiological hypertrophy is a normal process during development, and can also occur in mature structures on demand. In the uterus, smooth muscle cells undergo hypertrophy during pregnancy. hp.json http://purl.obolibrary.org/obo/GO_0014895 GO:0014897 biolink:BiologicalProcess striated muscle hypertrophy The enlargement or overgrowth of all or part of an organ due to an increase in size of muscle cells without cell division. In the case of striated muscle, this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils. hp.json http://purl.obolibrary.org/obo/GO_0014897 GO:0048280 biolink:BiologicalProcess vesicle fusion with Golgi apparatus The joining of the lipid bilayer membrane around a vesicle to the lipid bilayer membrane around the Golgi. hp.json http://purl.obolibrary.org/obo/GO_0048280 CHEBI:38179 biolink:ChemicalSubstance monocyclic heteroarene hp.json monocyclic heteroarenes http://purl.obolibrary.org/obo/CHEBI_38179 3_STAR GO:0097205 biolink:NamedThing renal filtration hp.json http://purl.obolibrary.org/obo/GO_0097205 GO:0048288 biolink:BiologicalProcess nuclear membrane fusion involved in karyogamy The joining of 2 or more lipid bilayer membranes that surround the nucleus during the creation of a single nucleus from multiple nuclei. hp.json nuclear membrane fusion during karyogamy http://purl.obolibrary.org/obo/GO_0048288 GO:0002886 biolink:BiologicalProcess regulation of myeloid leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity. hp.json http://purl.obolibrary.org/obo/GO_0002886 GO:0002887 biolink:BiologicalProcess negative regulation of myeloid leukocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte mediated immunity. hp.json down-regulation of myeloid leukocyte mediated immunity|down regulation of myeloid leukocyte mediated immunity|inhibition of myeloid leukocyte mediated immunity|downregulation of myeloid leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002887 GO:0002888 biolink:BiologicalProcess positive regulation of myeloid leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte mediated immunity. hp.json upregulation of myeloid leukocyte mediated immunity|up-regulation of myeloid leukocyte mediated immunity|up regulation of myeloid leukocyte mediated immunity|activation of myeloid leukocyte mediated immunity|stimulation of myeloid leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002888 GO:0048285 biolink:BiologicalProcess organelle fission The creation of two or more organelles by division of one organelle. hp.json http://purl.obolibrary.org/obo/GO_0048285 goslim_pir|goslim_yeast GO:0000226 biolink:BiologicalProcess microtubule cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. hp.json microtubule dynamics|microtubule cytoskeleton organization and biogenesis|microtubule cytoskeleton organisation http://purl.obolibrary.org/obo/GO_0000226 goslim_pombe GO:0048284 biolink:BiologicalProcess organelle fusion The creation of a single organelle from two or more organelles. hp.json http://purl.obolibrary.org/obo/GO_0048284 goslim_pir|goslim_yeast OBO:MAXO_0010366 biolink:NamedThing vaginography procedure A radiographic examination of the vagina using the intravaginal injection of contrast medium. NCIT:C38096 hp.json radiography of vagina|radiograph of vagina|vaginography|vagina X-ray procedure|vagina radiogram procedure http://purl.obolibrary.org/obo/MAXO_0010366 CHEBI:26167 biolink:ChemicalSubstance polar amino acid Any amino acid whose side chain is capable of forming one or more hydrogen bonds. PMID:12016058|MetaCyc:Polar-amino-acids hp.json polar amino acid|polar amino-acids|polar amino acids|polar amino-acid http://purl.obolibrary.org/obo/CHEBI_26167 3_STAR GO:0014861 biolink:BiologicalProcess regulation of skeletal muscle contraction via regulation of action potential Any process that modulates the frequency, rate or extent of skeletal muscle contraction by depolarization of muscle membrane and ionic fluxes. hp.json regulation of skeletal muscle contraction via membrane action potential http://purl.obolibrary.org/obo/GO_0014861 OBO:MAXO_0010360 biolink:NamedThing bronchography procedure The radiographic examination of the tracheobronchial tree following the injection of a radiopaque material. NCIT:C38040 hp.json bronchographic image procedure|tracheobronchial tree X-ray procedure|bronchography|tracheobronchial tree radiogram procedure|radiograph of tracheobronchial tree|radiography of tracheobronchial tree http://purl.obolibrary.org/obo/MAXO_0010360 OBO:MAXO_0010361 biolink:NamedThing cholangiography procedure The radiographic examination of the bile ducts after a contrast medium has been injected. NCIT:C61508 hp.json cholangiographic procedure|radiography of biliary tree|cholangiography|radiograph of biliary tree|biliary tree X-ray procedure|biliary tree radiogram procedure http://purl.obolibrary.org/obo/MAXO_0010361 OBO:MAXO_0010362 biolink:NamedThing cystography procedure A radiographic procedure to obtain an image of the urinary bladder by filling the bladder with contrast medium. NCIT:C38049 hp.json radiography of urinary bladder|cystographic imaging procedure|cystography|urinary bladder X-ray procedure|urinary bladder radiogram procedure|radiograph of urinary bladder http://purl.obolibrary.org/obo/MAXO_0010362 OBO:MAXO_0010363 biolink:NamedThing mammography procedure A type of radiography used specifically to examine breast tissue. The procedure utilizes a low-dose of x-rays or radiation to generate an image. A mammography exam or mammogram, is used as a screening tool to detect early breast cancer in women experiencing no symptoms and to detect and diagnose breast disease. NCIT:C16818 hp.json radiography of breast|radiograph of breast|mammography|breast X-ray procedure|breast radiogram procedure http://purl.obolibrary.org/obo/MAXO_0010363 GO:0014866 biolink:BiologicalProcess skeletal myofibril assembly The process whose specific outcome is the progression of the skeletal myofibril over time, from its formation to the mature structure. A skeletal myofibril is a myofibril specific to skeletal muscle cells. hp.json http://purl.obolibrary.org/obo/GO_0014866 OBO:MAXO_0010364 biolink:NamedThing myelography procedure The radiographic examination of the spinal cord and nerve roots following the injection of a contrast medium into the spinal subarachnoid space. The X-rays taken may highlight conditions such as spinal tumors, spinal cord swelling and herniated discs. NCIT:C20175 hp.json spinal cord X-ray procedure|myelography|spinal cord radiogram procedure|radiograph of spinal cord|radiography of spinal cord http://purl.obolibrary.org/obo/MAXO_0010364 OBO:MAXO_0010365 biolink:NamedThing total body radiography procedure A radiologic test that involves the examination of the entire body in a single procedure. NCIT:C96640 hp.json radiography of multicellular organism|radiograph of multicellular organism|multicellular organism X-ray procedure|total body radiography|multicellular organism radiogram procedure|whole body radiography http://purl.obolibrary.org/obo/MAXO_0010365 GO:0000228 biolink:CellularComponent nuclear chromosome A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. hp.json nuclear interphase chromosome http://purl.obolibrary.org/obo/GO_0000228 goslim_generic|goslim_chembl CHEBI:38147 biolink:ChemicalSubstance cardiotonic drug A drug that has a strengthening effect on the heart or that can increase cardiac output. hp.json cardiotonic drugs http://purl.obolibrary.org/obo/CHEBI_38147 3_STAR CHEBI:38161 biolink:ChemicalSubstance chelator A ligand with two or more separate binding sites that can bind to a single metallic central atom, forming a chelate. KEGG:C02169|KEGG:C00917 hp.json chelators|Chelating agent|complexon|chelating agents|Metal chelator http://purl.obolibrary.org/obo/CHEBI_38161 3_STAR OBO:MAXO_0010355 biolink:NamedThing neck radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of neck. hp.json radiography of neck|radiograph of neck|neck X-ray procedure|neck radiogram procedure http://purl.obolibrary.org/obo/MAXO_0010355 OBO:MAXO_0010356 biolink:NamedThing chest radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of chest. NCIT:C38103 hp.json chest X-ray procedure|chest radiogram procedure|radiograph of chest|radiography of chest http://purl.obolibrary.org/obo/MAXO_0010356 OBO:MAXO_0010357 biolink:NamedThing lower limb radiographic procedure The X-ray examination of the lower limbs of the body. NCIT:C20080 hp.json radiograph of lower limb segment|lower limb segment X-ray procedure|lower limb segment radiogram procedure|lower limb radiography|lower limb X-ray|radiography of lower limb segment http://purl.obolibrary.org/obo/MAXO_0010357 OBO:MAXO_0010358 biolink:NamedThing angiography procedure The X-ray examination of the blood vessels or chambers of the heart. NCIT:C20080 hp.json blood vasculature radiogram procedure|radiograph of blood vasculature|radiography of blood vasculature|angiography|blood vasculature X-ray procedure http://purl.obolibrary.org/obo/MAXO_0010358 OBO:MAXO_0010359 biolink:NamedThing pulmonary angiography procedure An x-ray imaging technique that involves visualization of the pulmonary vasculature after fluoroscopy-guided catheter placement and injection of an iodinated contrast medium into the pulmonary circulation. NCIT:C154789 hp.json radiograph of pulmonary vascular system|radiography of pulmonary vascular system|pulmonary vascular system X-ray procedure|pulmonary vascular system radiogram procedure http://purl.obolibrary.org/obo/MAXO_0010359 GO:0014874 biolink:BiologicalProcess response to stimulus involved in regulation of muscle adaptation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. This occurs as part of the regulation of muscle adaptation. hp.json response to stimulus involved in regulation of muscle plasticity http://purl.obolibrary.org/obo/GO_0014874 GO:0014872 biolink:BiologicalProcess myoblast division The process resulting in the physical partitioning and separation of a myoblast into daughter cells. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. hp.json http://purl.obolibrary.org/obo/GO_0014872 OBO:MAXO_0010351 biolink:NamedThing abdominal radiographic procedure Use of an imaging test that uses small amounts of radiation to produce pictures of abdomen. NCIT:C38102 hp.json abdomen radiogram procedure|radiograph of abdomen|radiography of abdomen|abdominal X-ray procedure|abdominal radiography|abdomen X-ray procedure http://purl.obolibrary.org/obo/MAXO_0010351 OBO:MAXO_0010352 biolink:NamedThing head radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of head. hp.json radiography of head|radiograph of head|head X-ray procedure|head radiogram procedure http://purl.obolibrary.org/obo/MAXO_0010352 OBO:MAXO_0010353 biolink:NamedThing liver radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of liver. hp.json liver X-ray procedure|liver radiogram procedure|radiograph of liver|radiography of liver http://purl.obolibrary.org/obo/MAXO_0010353 OBO:MAXO_0010354 biolink:NamedThing lung radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of lung. hp.json radiograph of lung|lung X-ray procedure|lung radiogram procedure|radiography of lung http://purl.obolibrary.org/obo/MAXO_0010354 OBO:MAXO_0010308 biolink:NamedThing oropharyngeal swab collection Collection biological material from within the oropharynx with a cotton swab. hp.json swab collection of oropharynx http://purl.obolibrary.org/obo/MAXO_0010308 OBO:MAXO_0010309 biolink:NamedThing anterior nares swab collection Collection biological material from within the external naris with a cotton swab. hp.json swab collection of external naris|anterior naris swab http://purl.obolibrary.org/obo/MAXO_0010309 OBO:MAXO_0010301 biolink:NamedThing rectal swab collection Collection biological material from within the rectum with a cotton swab. hp.json swab collection of rectum|anal swab http://purl.obolibrary.org/obo/MAXO_0010301 OBO:MAXO_0010302 biolink:NamedThing vaginal swab collection Collection biological material from within the vagina with a cotton swab. hp.json swab collection of vagina http://purl.obolibrary.org/obo/MAXO_0010302 OBO:MAXO_0010303 biolink:NamedThing buccal swab collection Collection biological material from within the buccal mucosa with a cotton swab. hp.json oral swab|swab collection of buccal mucosa http://purl.obolibrary.org/obo/MAXO_0010303 OBO:MAXO_0010304 biolink:NamedThing nasal turbinal swab collection Collection biological material from within the nasal turbinal with a cotton swab. hp.json swab collection of nasal turbinal http://purl.obolibrary.org/obo/MAXO_0010304 OBO:MAXO_0010305 biolink:NamedThing nasopharyngeal swab collection Collection biological material from within the nasopharynx with a cotton swab. hp.json swab collection of nasopharynx http://purl.obolibrary.org/obo/MAXO_0010305 OBO:MAXO_0010306 biolink:NamedThing nasal vestibule swab collection Collection biological material from within the nasal vestibule with a cotton swab. hp.json swab collection of nasal vestibule http://purl.obolibrary.org/obo/MAXO_0010306 OBO:MAXO_0010307 biolink:NamedThing skin swab collection Collection biological material from within the zone of skin with a cotton swab. hp.json swab collection of zone of skin http://purl.obolibrary.org/obo/MAXO_0010307 CHEBI:90710 biolink:ChemicalSubstance receptor modulator A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors. hp.json receptor modulators http://purl.obolibrary.org/obo/CHEBI_90710 3_STAR CHEBI:77746 biolink:ChemicalSubstance human metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). hp.json Homo sapiens metabolites|H. sapiens metabolites|H. sapiens metabolite|Homo sapiens metabolite http://purl.obolibrary.org/obo/CHEBI_77746 3_STAR HP:0011593 biolink:PhenotypicFeature Left aortic arch with retroesophageal diverticulum of Kommerell A patent ductus arteriosus or ductal ligament completes the ring. UMLS:C0265885|SNOMEDCT_US:74561007 hp.json Kommerell diverticulum http://purl.obolibrary.org/obo/HP_0011593 HP:0011594 biolink:PhenotypicFeature Right aortic arch with retroesophageal diverticulum of Kommerell Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch. UMLS:C4023279 hp.json http://purl.obolibrary.org/obo/HP_0011594 HP:0011595 biolink:PhenotypicFeature Left aortic arch with retroesophageal right subclavian artery Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body. UMLS:C4023278 hp.json http://purl.obolibrary.org/obo/HP_0011595 HP:0011596 biolink:PhenotypicFeature Left aortic arch with right descending aorta and right ductus arteriosus The ring may be completed by the ductal ligament. UMLS:C4023277 hp.json http://purl.obolibrary.org/obo/HP_0011596 HP:0011597 biolink:PhenotypicFeature Right aortic arch with left descending aorta and left ductus arteriosus UMLS:C4023276 hp.json http://purl.obolibrary.org/obo/HP_0011597 HP:0011598 biolink:PhenotypicFeature Right aortic arch with retroesophageal left subclavian artery UMLS:C4021140 hp.json Right aortic arch with anomalous left subclavian artery|Right aortic arch with aberrant left subclavian artery http://purl.obolibrary.org/obo/HP_0011598 HP:0011599 biolink:PhenotypicFeature Mesocardia Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. SNOMEDCT_US:16567006|Fyler:140|Fyler:0140|UMLS:C0265865 hp.json http://purl.obolibrary.org/obo/HP_0011599 HP:0011590 biolink:PhenotypicFeature Double aortic arch A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). Fyler:2761|SNOMEDCT_US:10451007|UMLS:C0265883 hp.json http://purl.obolibrary.org/obo/HP_0011590 HP:0011591 biolink:PhenotypicFeature Left aortic arch with cervical origin of the right subclavian artery UMLS:C4023281 hp.json http://purl.obolibrary.org/obo/HP_0011591 HP:0011592 biolink:PhenotypicFeature Left aortic arch with isolated subclavian artery The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis. UMLS:C4023280 hp.json http://purl.obolibrary.org/obo/HP_0011592 OBO:MAXO_0010320 biolink:NamedThing CT pulmonary angiogram The use of computed tomography to produce images of structures of the pulmonary vascular system. hp.json CT PE|CT scan for pulmonary embolism|pulmonary vascular system CT examination|CAT scan of pulmonary vascular system|pulmonary vascular system computerized axial tomography|pulmonary vascular system computed tomography|pulmonary vascular system CAT scan|CT of pulmonary vascular system http://purl.obolibrary.org/obo/MAXO_0010320 HP:0011582 biolink:PhenotypicFeature Abdominal ectopia cordis Displacement of the heart outside the thoracic cavity and into the abdomen. UMLS:C4023287 hp.json http://purl.obolibrary.org/obo/HP_0011582 OBO:MAXO_0010319 biolink:NamedThing CT angiogram The use of computed tomography to produce images of structures of the blood vasculature. hp.json blood vasculature CAT scan|blood vasculature computed tomography|blood vasculature CT examination|CT of blood vasculature|blood vasculature computerized axial tomography|CAT scan of blood vasculature http://purl.obolibrary.org/obo/MAXO_0010319 HP:0011583 biolink:PhenotypicFeature Cervical ectopia cordis A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum. UMLS:C4023286 hp.json http://purl.obolibrary.org/obo/HP_0011583 HP:0011584 biolink:PhenotypicFeature Thoracocervical ectopia cordis A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum. UMLS:C4023285 hp.json http://purl.obolibrary.org/obo/HP_0011584 HP:0011585 biolink:PhenotypicFeature Thoracic ectopia cordis Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum. UMLS:C4023284 hp.json http://purl.obolibrary.org/obo/HP_0011585 HP:0011586 biolink:PhenotypicFeature Thoracoabdominal ectopia cordis Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity. UMLS:C4023283 hp.json http://purl.obolibrary.org/obo/HP_0011586 HP:0011587 biolink:PhenotypicFeature Abnormal branching pattern of the aortic arch A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. UMLS:C4023282 hp.json http://purl.obolibrary.org/obo/HP_0011587 HP:0011588 biolink:PhenotypicFeature Cervical aortic arch The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta. SNOMEDCT_US:253657003|UMLS:C0345065 hp.json http://purl.obolibrary.org/obo/HP_0011588 HP:0011589 biolink:PhenotypicFeature Common origin of the right brachiocephalic artery and left common carotid artery The left common carotid artery has a common origin with the innominate artery. SNOMEDCT_US:460890003|UMLS:C4021141|UMLS:C4020746|UMLS:C3532020 hp.json Bovine arch|Common brachiocephalic trunk|Ovine arch http://purl.obolibrary.org/obo/HP_0011589 OBO:MAXO_0010311 biolink:NamedThing abdominal CT The use of computed tomography to produce images of structures of the abdomen. hp.json abdomen computed tomography|CT of abdomen|abdomen CAT scan|CAT scan of abdomen|abdomen computerized axial tomography|abdomen CT examination http://purl.obolibrary.org/obo/MAXO_0010311 OBO:MAXO_0010312 biolink:NamedThing head CT The use of computed tomography to produce images of structures of the head. hp.json head CAT scan|head CT examination|head computerized axial tomography|CAT scan of head|head computed tomography|CT of head http://purl.obolibrary.org/obo/MAXO_0010312 OBO:MAXO_0010313 biolink:NamedThing liver CT The use of computed tomography to produce images of structures of the liver. hp.json CAT scan of liver|liver computerized axial tomography|liver computed tomography|liver CAT scan|liver CT examination|CT of liver http://purl.obolibrary.org/obo/MAXO_0010313 OBO:MAXO_0010314 biolink:NamedThing lung CT The use of computed tomography to produce images of structures of the lung. hp.json lung CAT scan|CAT scan of lung|lung computerized axial tomography|lung CT examination|lung computed tomography|CT of lung http://purl.obolibrary.org/obo/MAXO_0010314 OBO:MAXO_0010315 biolink:NamedThing neck CT The use of computed tomography to produce images of structures of the neck. hp.json neck CAT scan|neck CT examination|CAT scan of neck|neck computerized axial tomography|neck computed tomography|CT of neck http://purl.obolibrary.org/obo/MAXO_0010315 OBO:MAXO_0010316 biolink:NamedThing brain CT The use of computed tomography to produce images of structures of the brain. hp.json brain computerized axial tomography|CAT scan of brain|brain CAT scan|brain computed tomography|CT of brain|brain CT examination http://purl.obolibrary.org/obo/MAXO_0010316 OBO:MAXO_0010317 biolink:NamedThing chest CT The use of computed tomography to produce images of structures of the chest. hp.json CT of chest|chest CAT scan|CAT scan of chest|chest CT examination|chest computerized axial tomography|chest computed tomography http://purl.obolibrary.org/obo/MAXO_0010317 HP:0011580 biolink:PhenotypicFeature Short chordae tendineae of the mitral valve Abnormally short chordae tendineae of the mitral valve. UMLS:C4023288 hp.json http://purl.obolibrary.org/obo/HP_0011580 OBO:MAXO_0010318 biolink:NamedThing skull CT The use of computed tomography to produce images of structures of the skull. hp.json skull CAT scan|skull computed tomography|skull CT examination|CT of skull|skull computerized axial tomography|CAT scan of skull http://purl.obolibrary.org/obo/MAXO_0010318 HP:0011581 biolink:PhenotypicFeature Double outlet left ventricle A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. UMLS:C0265809|Fyler:0650|SNOMEDCT_US:7368005|Fyler:650|ICD-10:Q20.2 hp.json http://purl.obolibrary.org/obo/HP_0011581 OBO:MAXO_0010310 biolink:NamedThing throat swab collection Collection biological material from within the throat with a cotton swab. hp.json swab collection of throat http://purl.obolibrary.org/obo/MAXO_0010310 UBERON:0035480 biolink:AnatomicalEntity surface of prostate The external portion of the prostate including the anterior, inferolateral, lateral and posterior surfaces. NCIT:C13091|FMA:19590 hp.json surface of prostate gland|prostatic surface http://purl.obolibrary.org/obo/UBERON_0035480 UBERON:0035483 biolink:AnatomicalEntity left suprarenal vein A vein that drains blood from the left adrenal gland into the left renal artery. NCIT:C53138|FMA:14349 hp.json http://purl.obolibrary.org/obo/UBERON_0035483 human_reference_atlas UBERON:0035489 biolink:AnatomicalEntity branch of basilar artery FMA:76269|NCIT:C32195 hp.json basilar arterial branch http://purl.obolibrary.org/obo/UBERON_0035489 CHEBI:63137 biolink:ChemicalSubstance 4-hydroxyproline zwitterion The amino acid zwitterion formed from 4-hydroxyproline. hp.json 4-hydroxypyrrolidinium-2-carboxylate http://purl.obolibrary.org/obo/CHEBI_63137 3_STAR OBO:MAXO_0000936 biolink:NamedThing alkaline phosphatase enzyme activity test Measurement of alkaline phosphatase enzamatic activity in a biological sample. hp.json http://purl.obolibrary.org/obo/MAXO_0000936 OBO:MAXO_0000937 biolink:NamedThing inorganic pyrophosphate measurement The determination of the amount of inorganic pyrophosphate present in a sample. NCIT:C161358 hp.json PPI measurement|PPi measurement http://purl.obolibrary.org/obo/MAXO_0000937 OBO:MAXO_0000931 biolink:NamedThing psychologist evaluation An initial assessment by a person who specializes in the study of mind and behavior or in the treatment of mental, emotional, and behavioral disorders. NCIT:C28181 hp.json http://purl.obolibrary.org/obo/MAXO_0000931 OBO:MAXO_0000934 biolink:NamedThing urine phosphoethanolamine measurement Detection of phosphoethanolamine in urine. hp.json http://purl.obolibrary.org/obo/MAXO_0000934 OBO:MAXO_0000935 biolink:NamedThing bone specific alkaline phosphatase measurement The determination of the amount of bone specific alkaline phosphatase present in a sample. NCIT:C92287 hp.json ALPBS test|bone ALP measurement http://purl.obolibrary.org/obo/MAXO_0000935 OBO:MAXO_0000932 biolink:NamedThing electroencephalography The neurophysiologic exploration of the electrical activity of the brain by the application of electrodes to the scalp. The resulting traces are known as an electroencephalogram (EEG). This test is used to assess brain damage, epilepsy and other problems. NCIT:C38054 hp.json EEG http://purl.obolibrary.org/obo/MAXO_0000932 UBERON:3011048 biolink:AnatomicalEntity genital system Anatomical system that has as its parts the organs concerned with reproduction, especially the external genital organs. hp.json reproductive system|genitalia http://purl.obolibrary.org/obo/UBERON_3011048 GO:0048209 biolink:BiologicalProcess regulation of vesicle targeting, to, from or within Golgi Any process that modulates the frequency, rate, or destination of vesicle-mediated transport to, from or within the Golgi apparatus. hp.json regulation of Golgi vesicle targeting http://purl.obolibrary.org/obo/GO_0048209 CHEBI:63161 biolink:ChemicalSubstance glycosyl compound A carbohydrate derivative arising formally from the elimination of water from a glycosidic hydroxy group and an H atom bound to an oxygen, carbon, nitrogen or sulfur atom of a separate entity. hp.json glycosyl compounds http://purl.obolibrary.org/obo/CHEBI_63161 3_STAR UBERON:0001789 biolink:AnatomicalEntity outer nuclear layer of retina The layer within the retina where the photoreceptor cell bodies reside. BTO:0005600|XAO:0003219|MA:0001315|BAMS:Ronl|FMA:58684|UMLS:C0229210|ZFA:0001464|NCIT:C33236|EMAPA:19157|VHOG:0001170|TAO:0001464 hp.json retinal outer nuclear layers|stratum nucleare externum retinae|outer nuclear layer|layer of outer granules|neural retina outer nuclear layer|retinal outer nuclear layer|ONL|stratum nucleare externum (retina)|retina, outer nuclear layer|retina outer nuclear layer|external nuclear layer http://purl.obolibrary.org/obo/UBERON_0001789 pheno_slim|human_reference_atlas|vertebrate_core UBERON:0001788 biolink:AnatomicalEntity outer limiting layer of retina The row of jucntional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier[MP]. TAO:0001331|MA:0001309|FMA:58683|UMLS:C1518685|XAO:0003224|NCIT:C33235|ZFA:0001331|EMAPA:36518 hp.json BRB|retina outer limiting membrane|outer limiting membranes|external limiting membrane|blood retina barrier|stratum limitans externum retinae|retina external limiting lamina|stratum limitans externum (retina)|external limiting lamina of retina|outer limiting membrane|external limiting membrane of retina|outer limiting membrane of retina http://purl.obolibrary.org/obo/UBERON_0001788 pheno_slim|vertebrate_core HP:0033565 biolink:PhenotypicFeature Anti-epidermal transglutaminase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase. hp.json Anti-TG3 antibody|Anti-epidermal transglutaminase (anti-eTG) antibody|Anti-keratinocyte transglutaminase|Anti-eTG antibody positivity http://purl.obolibrary.org/obo/HP_0033565 UBERON:0013774 biolink:AnatomicalEntity diaphysis of metatarsal bone A diaphysis that is part of a metatarsal bone. FMA:33826 hp.json metatarsal diaphysis|metatarsal bone diaphysis|diaphysis of metatarsal|shaft of metatarsal bone http://purl.obolibrary.org/obo/UBERON_0013774 pheno_slim UBERON:0011111 biolink:AnatomicalEntity humeroradial joint A hinge joint between the head of the radius and the capitulum of the humerus. FMA:38855 hp.json humero-radial joint|articulatio humeroradialis http://purl.obolibrary.org/obo/UBERON_0011111 pheno_slim UBERON:0011110 biolink:AnatomicalEntity humeroulnar joint The humeroulnar joint, is part of the elbow-joint or the Olecron Joint, between the ulna and humerus bones is the simple hinge-joint, which allows for movements of flexion, extension and circumduction. The Humero-Ulnar Joint is the junction of trochlear notch of the ulna and the trochlea of the humerus. Owing to the obliquity of the trochlea of the humerus, this movement does not take place in the antero-posterior plane of the body of the humerus. When the forearm is extended and supinated, the axis of the arm and forearm are not in the same line; the arm forms an obtuse angle with the forearm. During flexion, however, the forearm and the hand tend to approach the middle line of the body, and thus enable the hand to be easily carried to the face. The accurate adaptation of the trochlea of the humerus, with its prominences and depressions, to the semilunar notch of the ulna, prevents any lateral movement. Flexion is produced by the action of the Biceps brachii and Brachialis, assisted by the Brachioradialis, with a tiny contribution from the muscles arising from the medial epicondyle of the humerus. Extension is produced by the Triceps brachii and AnconC&us, with a tiny contribution from the muscles arising from the lateral epicondyle of the humerus, such as the Extensor digitorum communis. FMA:38854 hp.json articulatio humeroulnaris|humero-ulnar joint http://purl.obolibrary.org/obo/UBERON_0011110 pheno_slim HP:0033564 biolink:PhenotypicFeature Stasis dermatitis Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus. hp.json Venous eczema|Varicose eczema http://purl.obolibrary.org/obo/HP_0033564 UBERON:0013776 biolink:AnatomicalEntity skin of palmar/plantar part of autopod A zone of skin that is part of a palmar/plantar part of autopod. hp.json http://purl.obolibrary.org/obo/UBERON_0013776 HP:0033567 biolink:PhenotypicFeature Right axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. hp.json RAD|Electrical right axis deviation http://purl.obolibrary.org/obo/HP_0033567 UBERON:0013777 biolink:AnatomicalEntity skin of palm of manus A zone of skin that is part of a palmar part of manus. FMA:38301 hp.json palmar skin of hand|skin of palmar area of hand http://purl.obolibrary.org/obo/UBERON_0013777 pheno_slim HP:0033566 biolink:PhenotypicFeature Abnormal ventricular axis Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization. hp.json Abnormal QRS axis http://purl.obolibrary.org/obo/HP_0033566 HP:0033561 biolink:PhenotypicFeature Anti-bactericidal/permeability-increasing protein antibody positivity The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. hp.json Anti-BPI antibody positivity http://purl.obolibrary.org/obo/HP_0033561 HP:0033560 biolink:PhenotypicFeature Anti-PM-Scl antibody positivity Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40. hp.json Anti-PM/Scl antibody positivity http://purl.obolibrary.org/obo/HP_0033560 UBERON:0013771 biolink:AnatomicalEntity line connecting laterally paired nipples Line across midline connecting a left and right nipples. hp.json intermammary line http://purl.obolibrary.org/obo/UBERON_0013771 HP:0033563 biolink:PhenotypicFeature Anti-tissue transglutaminase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase. hp.json Anti-tTG antibody positivity http://purl.obolibrary.org/obo/HP_0033563 UBERON:0013772 biolink:AnatomicalEntity left nipple A nipple that is in_the_left_side_of a body proper. FMA:223695 hp.json http://purl.obolibrary.org/obo/UBERON_0013772 pheno_slim UBERON:0011112 biolink:AnatomicalEntity tibiofibular joint A joint that connects the tibia and the fibula. FMA:35181 hp.json fibulatibial joint|tibiafibular joint|fibulotibial joint http://purl.obolibrary.org/obo/UBERON_0011112 UBERON:0013773 biolink:AnatomicalEntity right nipple A nipple that is in_the_right_side_of a body proper. FMA:223693 hp.json http://purl.obolibrary.org/obo/UBERON_0013773 pheno_slim HP:0033562 biolink:PhenotypicFeature Anti-glycoprotein-210 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210. hp.json Anti-gp210 antibody positivity http://purl.obolibrary.org/obo/HP_0033562 CHEBI:61313 biolink:ChemicalSubstance C21-steroid A steroid that has a structure based on a 21-carbon (pregnane) skeleton. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure. hp.json a C21-steroid http://purl.obolibrary.org/obo/CHEBI_61313 3_STAR UBERON:0011108 biolink:AnatomicalEntity synovial joint of pectoral girdle A synovial joint that is part of a pectoral girdle region. FMA:35243 hp.json joint of shoulder girdle|pectoral girdle joint http://purl.obolibrary.org/obo/UBERON_0011108 UBERON:0011107 biolink:AnatomicalEntity synovial joint of pelvic girdle A synovial joint that is part of a pelvic girdle region. UMLS:C0827002|NCIT:C32890|FMA:35173 hp.json pelvic girdle joint|joint of pelvic girdle http://purl.obolibrary.org/obo/UBERON_0011107 CHEBI:36347 biolink:ChemicalSubstance nuclear particle A nucleus or any of its constituents in any of their energy states. hp.json nuclear particle http://purl.obolibrary.org/obo/CHEBI_36347 3_STAR UBERON:0001790 biolink:AnatomicalEntity outer plexiform layer of retina The layer within the retina where the bipolar cells synapse with the photoreceptor cells[ZFA]. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells[GO]. XAO:0003218|MA:0001316|UMLS:C0229217|FMA:58685|BTO:0003174|BAMS:Ropl|NCIT:C33237|VHOG:0001171|ZFA:0001330|TAO:0001330|EMAPA:35744 hp.json external plexiform layer|OPL|stratum plexiforme externum retinae|stratum plexiforme externum|outer plexiform layer|retinal outer plexiform layers|retinal outer plexiform layer|retina, outer plexiform layer|retina outer plexiform layer http://purl.obolibrary.org/obo/UBERON_0001790 vertebrate_core|pheno_slim CHEBI:36344 biolink:ChemicalSubstance hadron Hadron is a subatomic particle which experiences the strong force. hp.json hadrons http://purl.obolibrary.org/obo/CHEBI_36344 3_STAR UBERON:0013767 biolink:AnatomicalEntity frontal process of maxilla A plate of bone from the maxilla that that projects upward, medialward, and backward, by the side of the nose, forming part of its lateral boundary[WP,modified]. FMA:52894 hp.json frontal process of the maxilla|nasal process of maxilla|frontal appendage of maxilla|processus frontalis (maxilla)|processus frontalis maxillae http://purl.obolibrary.org/obo/UBERON_0013767 HP:0033569 biolink:PhenotypicFeature Extreme axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right. hp.json http://purl.obolibrary.org/obo/HP_0033569 HP:0033568 biolink:PhenotypicFeature Left axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees. hp.json Electrical left axis deviation http://purl.obolibrary.org/obo/HP_0033568 UBERON:0013768 biolink:AnatomicalEntity great vessel of heart Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. Wikipedia:Great_vessels|SCTID:304066000|EMAPA:36460 hp.json great vessel of thorax|great vessel http://purl.obolibrary.org/obo/UBERON_0013768 grouping_class UBERON:0013769 biolink:AnatomicalEntity uterine lumen An organ cavity that is part of a uterus. Wikipedia:Uterine_cavity|FMA:17745|EMAPA:36273 hp.json uterine space|cavity of uterus|uterine cavity http://purl.obolibrary.org/obo/UBERON_0013769 UBERON:0001796 biolink:AnatomicalEntity aqueous humor of eyeball A thick watery refractive medium that fills the space between the lens and the cornea[WP]. OpenCyc:Mx4rvdGd-5wpEbGdrcN5Y29ycA|SCTID:280587006|MESH:D001082|Wikipedia:Aqueous_humor|EHDAA2:0000139|MA:0001236|FMA:58819|NCIT:C13190|ENVO:02000024|UMLS:C0003662|GAID:890|EMAPA:18232|ZFA:0005564|VHOG:0000548|EHDAA:10196 hp.json humor aquosus|aqueous humour|aqueous humor http://purl.obolibrary.org/obo/UBERON_0001796 uberon_slim|vertebrate_core|pheno_slim HP:0008598 biolink:PhenotypicFeature Mild conductive hearing impairment A mild form of conductive hearing impairment. UMLS:C4021536 hp.json Conductive hearing loss, mild http://purl.obolibrary.org/obo/HP_0008598 UBERON:0001795 biolink:AnatomicalEntity inner plexiform layer of retina Cytoarchitectural layer of the retina that is made up of a dense reticulum of fibrils formed by interlaced dendrites of retinal ganglion cells and cells of the inner nuclear layer (adapted from Wikipedia). ZFA:0001329|EMAPA:35741|VHOG:0001168|TAO:0001329|BTO:0003175|XAO:0003225|UMLS:C0229221|MA:0001312|NLXANAT:1005032|NLX:20558|NCIT:C32809|FMA:58704|BAMS:Ripl hp.json retinal inner plexiform layer|inner plexiform layer|internal plexiform layer of retina|stratum plexifome internum|retina inner plexiform layer|retinal internal plexiform layer|retina, inner plexiform layer|IPL|stratum plexiforme internum|stratum plexiforme internum retinae http://purl.obolibrary.org/obo/UBERON_0001795 vertebrate_core|pheno_slim UBERON:0001798 biolink:AnatomicalEntity vitreous body Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified]. UMLS:C0042905|MESH:D014822|GAID:919|NCIT:C33884|FMA:58827|CALOHA:TS-0308|MA:0002462 hp.json http://purl.obolibrary.org/obo/UBERON_0001798 uberon_slim|pheno_slim UBERON:0001797 biolink:AnatomicalEntity vitreous humor A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina. FMA:58822|VHOG:0000795|BTO:0001451|UMLS:C0229096|CALOHA:TS-0308|NCIT:C13323|ENVO:02000032|MA:0001286|EV:0100344|ZFA:0005561|OpenCyc:Mx4rv7ZIfZwpEbGdrcN5Y29ycA|EMAPA:17837 hp.json humor vitreous|vitreous|humoral fluid|portion of vitreous humor|ocular fluid|whole portion of vitreous humor|vitreous humour|vitreous fluid|humor vitreus http://purl.obolibrary.org/obo/UBERON_0001797 uberon_slim|vertebrate_core|pheno_slim UBERON:0001792 biolink:AnatomicalEntity ganglionic layer of retina Cytoarchitectural layer of retina that contains somata of retinal ganglion cells, bounded by the stratum opticum and the inner plexiform layer. BAMS:Rgcl|NLX:36500|BTO:0003398|FMA:58687|VHOG:0001166|ZFA:0000024|XAO:0003223|MA:0001310|NCIT:C32652|EMAPA:35739|TAO:0000024|NLXANAT:1005030|CALOHA:TS-0867 hp.json stratum ganglionicum (retina)|GCL layer|retina ganglion cell layer|retina, ganglion cell layer|RGC layer|ganglionic cell layer of retina|retinal ganglion layer|ganglion cell layer|stratum ganglionicum retinae|retinal ganglion cell layer|retina ganglion layer http://purl.obolibrary.org/obo/UBERON_0001792 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas CHEBI:36342 biolink:ChemicalSubstance subatomic particle A particle smaller than an atom. Wikipedia:Subatomic_particle hp.json subatomic particles http://purl.obolibrary.org/obo/CHEBI_36342 3_STAR UBERON:0001791 biolink:AnatomicalEntity inner nuclear layer of retina Cytoarchitectural layer of retina containing closely packed cell bodies, the majority of which are bipolar cells (adapted from Wikipedia). FMA:58686|TAO:0000119|VHOG:0001167|BTO:0003176|MA:0001311|XAO:0003221|BAMS:Rinl|NLXANAT:1005031|EMAPA:19155|NCIT:C32808|UMLS:C0229211|ZFA:0000119|NLX:93816 hp.json neural retina inner nuclear layer|retina, inner nuclear layer|retinal inner nuclear layer|INL|inner nuclear layer|layer of inner granules|intermediate cell layer|retina inner nuclear layer|stratum nucleare internum retinae|stratum nucleare internum http://purl.obolibrary.org/obo/UBERON_0001791 vertebrate_core|pheno_slim|human_reference_atlas HP:0008593 biolink:PhenotypicFeature Prominent antitragus Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. UMLS:C1968811 hp.json Enlarged antitragus|Hyperplastic antitragus|Hypertrophic antitragus http://purl.obolibrary.org/obo/HP_0008593 CHEBI:36343 biolink:ChemicalSubstance composite particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). hp.json composite particles http://purl.obolibrary.org/obo/CHEBI_36343 3_STAR UBERON:0001794 biolink:AnatomicalEntity inner limiting layer of retina The row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous[MP]. FMA:58689|ZFA:0001029|MA:0001313|TAO:0001029|XAO:0003222|EMAPA:36519|UMLS:C1512783|NCIT:C32807 hp.json retina inner limiting membrane|retina internal limiting lamina|internal limiting lamina of retina|internal limiting membrane of retina|inner limiting membranes|ILM|stratum limitans internum retinae|inner limiting membrane|inner limiting membrane of retina http://purl.obolibrary.org/obo/UBERON_0001794 vertebrate_core|pheno_slim CHEBI:36340 biolink:ChemicalSubstance fermion Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. hp.json fermion|fermions http://purl.obolibrary.org/obo/CHEBI_36340 3_STAR HP:0008596 biolink:PhenotypicFeature Postlingual sensorineural hearing impairment A form of sensorineural hearing impairment with onset after the acquisition of speech. UMLS:C4024654 hp.json http://purl.obolibrary.org/obo/HP_0008596 UBERON:0001793 biolink:AnatomicalEntity nerve fiber layer of retina Layer of the retina formed by expansion of the fibers of the optic nerve. FMA:58688|VHOG:0001169|MA:0001314|DMBA:15652|XAO:0003220|TAO:0002212|ZFA:0001619|EMAPA:18591 hp.json stratum opticum of retina|layer of nerve fibres of retina|optic fiber layer|stratum neurofibrarum (retina)|retina nerve fiber layer|stratum neurofibrarum retinae|neural retina nerve fibre layer|optic fiber layer|optic fiber layers|stratum neurofibrum retinae|layer of nerve fibers of retina|nerve fiber layer http://purl.obolibrary.org/obo/UBERON_0001793 vertebrate_core|pheno_slim CHEBI:36341 biolink:ChemicalSubstance boson Particle of integer spin quantum number following Bose-Einstein statistics. Bosons are named after Satyendra Nath Bose. hp.json bosons|boson http://purl.obolibrary.org/obo/CHEBI_36341 3_STAR HP:0033570 biolink:PhenotypicFeature Indeterminate ventricular axis A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection. hp.json http://purl.obolibrary.org/obo/HP_0033570 UBERON:0001778 biolink:AnatomicalEntity ciliary epithelium A double layer covering the ciliary body that produces aqueous humor. EMAPA:35239|Wikipedia:Ciliary_body#Ciliary_epithelium|UMLS:C0459736|BTO:0001770|SCTID:280870004|MA:0001238|CALOHA:TS-0695|FMA:58464|NCIT:C32314 hp.json ocular ciliary epithelium|epithelium of ciliary body|ciliary body epithelium http://purl.obolibrary.org/obo/UBERON_0001778 human_reference_atlas UBERON:0001777 biolink:AnatomicalEntity substantia propria of cornea The lamellated connective tissue of the cornea between the Bowman and Descemet membranes. UMLS:C0010040|TAO:0002189|FMA:58306|CALOHA:TS-1138|EMAPA:17602|MESH:D003319|SCTID:362511000|GAID:893|ZFA:0001685|Wikipedia:Corneal_stroma|NCIT:C12699|MA:0001245|EFO:0002514 hp.json substantia propria|substantia propria corneae|stroma of cornea|corneal stroma http://purl.obolibrary.org/obo/UBERON_0001777 pheno_slim|efo_slim|uberon_slim|vertebrate_core dc:description biolink:NamedThing description http://purl.org/dc/elements/1.1/description hp.json http://purl.org/dc/elements/1.1/description UBERON:0001779 biolink:AnatomicalEntity iris stroma The delicate vascular connective tissue that lies between the anterior surface of the iris and the pars iridica retinae. FMA:58526|SCTID:280882008|MA:0002777|EMAPA:35451|ZFA:0005569|Wikipedia:Iris_stroma hp.json iridial stroma|stroma of iris http://purl.obolibrary.org/obo/UBERON_0001779 pheno_slim|uberon_slim|vertebrate_core HP:0033576 biolink:PhenotypicFeature Anti-H2B antibody positivity The presence of autoantibodies in the blood circulation that react against histone H2B. hp.json http://purl.obolibrary.org/obo/HP_0033576 HP:0033575 biolink:PhenotypicFeature Anti-H2A antibody positivity The presence of autoantibodies in the blood circulation that react against histone H2A. hp.json http://purl.obolibrary.org/obo/HP_0033575 UBERON:0013765 biolink:AnatomicalEntity digestive system element Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. EMAPA:37843|SCTID:272627002 hp.json digestive organ|digestive system organ http://purl.obolibrary.org/obo/UBERON_0013765 pheno_slim|grouping_class HP:0033578 biolink:PhenotypicFeature Pre-capillary pulmonary hypertension Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). hp.json Precapillary pulmonary hypertension http://purl.obolibrary.org/obo/HP_0033578 UBERON:0013766 biolink:AnatomicalEntity epicanthal fold A fold of skin of the upper eyelid that partially covers the inner corner of the eye. FMA:59370 hp.json medial canthic fold|epicanthus|plica palpebronasalis|epicanthic fold|eye fold|palpebronasal fold http://purl.obolibrary.org/obo/UBERON_0013766 pheno_slim HP:0033577 biolink:PhenotypicFeature In situ pulmonary artery thrombosis Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease. hp.json http://purl.obolibrary.org/obo/HP_0033577 UBERON:0011104 biolink:AnatomicalEntity epiphysis of fifth metacarpal bone An epiphysis that is part of a metacarpal bone of digit 5. FMA:86330 hp.json fifth metacarpal bone epiphysis|metacarpal 5 epiphysis http://purl.obolibrary.org/obo/UBERON_0011104 HP:0033572 biolink:PhenotypicFeature Anti-H1 antibody positivity The presence of autoantibodies in the blood circulation that react against histone H1. hp.json http://purl.obolibrary.org/obo/HP_0033572 UBERON:0013760 biolink:AnatomicalEntity external cervical os Opening of uterine cervix into the vagina. NCIT:C32491|FMA:76836|UMLS:C1512165 hp.json ostium of uterus|ostium uteri|external os of uterus|external os http://purl.obolibrary.org/obo/UBERON_0013760 HP:0033571 biolink:PhenotypicFeature Peripheral lung neovascularity The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy. hp.json http://purl.obolibrary.org/obo/HP_0033571 CHEBI:24373 biolink:ChemicalSubstance glycine derivative A proteinogenic amino acid derivative resulting from reaction of glycine at the amino group or the carboxy group, or from the replacement of any hydrogen of glycine by a heteroatom. hp.json http://purl.obolibrary.org/obo/CHEBI_24373 3_STAR UBERON:0013761 biolink:AnatomicalEntity cervical cavity The cavity formed by the walls of the cervix. FMA:17746|BTO:0002249 hp.json endocervical canal|endocervix|canal of the cervix|cervical canal|endocervical canal|cervical canal of uterus|lumen of cervix of uterus|endocervical|cavity of cervix http://purl.obolibrary.org/obo/UBERON_0013761 human_reference_atlas HP:0033574 biolink:PhenotypicFeature Anti-H3 antibody positivity The presence of autoantibodies in the blood circulation that react against histone H3. hp.json http://purl.obolibrary.org/obo/HP_0033574 HP:0033573 biolink:PhenotypicFeature Anti-H4 antibody positivity The presence of autoantibodies in the blood circulation that react against histone H4. hp.json http://purl.obolibrary.org/obo/HP_0033573 CHEBI:36357 biolink:ChemicalSubstance polyatomic entity Any molecular entity consisting of more than one atom. hp.json polyatomic entities http://purl.obolibrary.org/obo/CHEBI_36357 3_STAR CHEBI:36358 biolink:ChemicalSubstance polyatomic ion An ion consisting of more than one atom. hp.json polyatomic ions http://purl.obolibrary.org/obo/CHEBI_36358 3_STAR UBERON:0013756 biolink:AnatomicalEntity venous blood A blood that is part of a vein. FMA:83067 hp.json blood in vein|venous blood|portion of venous blood http://purl.obolibrary.org/obo/UBERON_0013756 UBERON:0013757 biolink:AnatomicalEntity capillary blood A blood that is part of a capillary. FMA:263901|NCIT:C32212 hp.json blood in capillary|portion of capillary blood|portion of blood in capillary http://purl.obolibrary.org/obo/UBERON_0013757 HP:0033579 biolink:PhenotypicFeature Decreased growth hormone responses to growth hormone-releasing hormone challenge Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. hp.json Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge http://purl.obolibrary.org/obo/HP_0033579 CHEBI:36359 biolink:ChemicalSubstance phosphorus oxoacid derivative hp.json phosphorus oxoacid derivative http://purl.obolibrary.org/obo/CHEBI_36359 3_STAR UBERON:0013758 biolink:AnatomicalEntity cervical os One of two openings in the uterine cervix. FMA:20422 hp.json uterine cervix opening|cervical opening http://purl.obolibrary.org/obo/UBERON_0013758 UBERON:0001785 biolink:AnatomicalEntity cranial nerve Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. SCTID:244447006|UMLS:C1269897|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1227|GAID:802|VHOG:0000279|BIRNLEX:1623|FMA:5865|BAMS:cran|OpenCyc:Mx4rvWvJVpwpEbGdrcN5Y29ycA|Wikipedia:Cranial_nerve|MA:0000215|MESH:D003391|ZFA:0000641|AAO:0000108|UMLS:C0010268|NCIT:C12700|HBA:9299|MBA:967|TAO:0000641|EHDAA2:0000323|XAO:0003089|EMAPA:17264|UMLS:C0010268|BTO:0001104|XAO:0000429 hp.json cranial neural tree organ|nervus cranialis|nervus cranialis|cranial nerves http://purl.obolibrary.org/obo/UBERON_0001785 human_reference_atlas|uberon_slim|vertebrate_core|pheno_slim UBERON:0001787 biolink:AnatomicalEntity photoreceptor layer of retina The layer within the retina where the photoreceptor cell receptor segments reside. MA:0001308|EMAPA:35686|NCIT:C32954|XAO:0003215|VHOG:0001165|UMLS:C0229206|ZFA:0000143|FMA:58680|TAO:0000143 hp.json layer of rods and cones|stratum segmentorum externorum et internorum (retina)|retinal photoreceptor layer|stratum segmentorum externorum et internorum retinae|retina photoreceptor layer|retinal photoreceptor layers http://purl.obolibrary.org/obo/UBERON_0001787 pheno_slim|uberon_slim|vertebrate_core UBERON:0001786 biolink:AnatomicalEntity fovea centralis A depression in the inner retinal surface within the macula lutea, the photoreceptor layer of which is entirely cones and which is specialized for maximum visual acuity. FMA:58658|UMLS:C0016622|EV:0100350|NCIT:C26463|MESH:D005584|MA:0001307|UMLS:C0450290|GAID:910|BIRNLEX:2543|VHOG:0001572|CALOHA:TS-2055|UMLS:C0016622|EMAPA:37589 hp.json centre of fovea|centre of macula|fovea centralis in macula|fovea http://purl.obolibrary.org/obo/UBERON_0001786 uberon_slim|pheno_slim UBERON:0001781 biolink:AnatomicalEntity layer of retina Any of the layers that make up the retina[MP]. MA:0001319|EMAPA:35742|XAO:0000266|SCTID:280657006|NCIT:C49328|UMLS:C0459649|FMA:58617|AAO:0010353 hp.json retinal layer|retina neuronal layer|retina layer|retinal neuronal layer http://purl.obolibrary.org/obo/UBERON_0001781 vertebrate_core|pheno_slim UBERON:0001780 biolink:AnatomicalEntity spinal nerve The any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified]. BTO:0000870|OpenCyc:Mx4rwK_iFJwpEbGdrcN5Y29ycA|GAID:841|UMLS:C0037941|EHDAA2:0001898|SCTID:361099009|MA:0000233|XAO:0003101|Wikipedia:Spinal_nerve|MESH:D013127|VHOG:0000824|BAMS:spin|AAO:0011101|FMA:5858|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1228|NCIT:C12792|EMAPA:16989 hp.json spinal column nerve|vertebral column nerve|nerve of spine|nervi spinales|nerve of backbone|spine nerve|spinal nerves|nerve of vertebral column|nervi spinales|nerve of spinal column|spinal nerve tree|backbone nerve http://purl.obolibrary.org/obo/UBERON_0001780 uberon_slim|pheno_slim|human_reference_atlas UBERON:0001783 biolink:AnatomicalEntity optic disc The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted]. MESH:D009898|FMA:58634|VHOG:0000551|EMAPA:18238|EHDAA:9077|EHDAA2:0001307|MA:0000278|UMLS:C0029127|CALOHA:TS-2153|EFO:0001974|NCIT:C12760 hp.json optic nerve disc|optic nerve head|physiologic blind spot|optic disk|optic papilla|physiologic blind spot of mariotte|optic disk http://purl.obolibrary.org/obo/UBERON_0001783 efo_slim|uberon_slim|pheno_slim UBERON:0001782 biolink:AnatomicalEntity pigmented layer of retina A monolayer of pigmented epithelium covering the neural retina; develops from the outer of the two layers of the optic cup[ZFA]. the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells[WP]. NCIT:C33470|MA:0003173|BTO:0001177|AAO:0011096|XAO:0003217|MA:0000279|UMLS:C0035322|ZFA:0000144|EHDAA:4765|EMAPA:35738|TAO:0000144|CALOHA:TS-0869|EHDAA2:0001465|VHOG:0000536|FMA:58627|EMAPA:17172 hp.json retinal pigment epithelium|retinal pigment layer|RPE|retinal pigmented epithelium|stratum pigmentosum (retina)|pigment epithelium of retina|PRE|stratum pigmentosum retinae|pigmented retinal epithelium|stratum pigmentosa retinae|pigmented retina|outer pigmented layer of retina|epithelium, retinal pigment|p. pigmentosa retinae|pigmented epithelium|pigmented retina epithelium http://purl.obolibrary.org/obo/UBERON_0001782 human_reference_atlas|uberon_slim|vertebrate_core|pheno_slim HP:0033581 biolink:PhenotypicFeature Absent peripheral lymph nodes in presence of infection The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases. hp.json http://purl.obolibrary.org/obo/HP_0033581 HP:0033580 biolink:PhenotypicFeature Compound motor action potential abnormality An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). hp.json http://purl.obolibrary.org/obo/HP_0033580 UBERON:0001766 biolink:AnatomicalEntity anterior chamber of eyeball The space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens. EMAPA:18231|MA:0000262|GAID:889|UMLS:C0003151|VHOG:0001431|EHDAA:9033|MESH:D000867|EHDAA2:0000129|FMA:58078|BTO:0002084|SCTID:181160009|Wikipedia:Anterior_chamber_of_eyeball|NCIT:C12667 hp.json camera anterior bulbi oculi|camera anterior bulbi oculi|eye anterior chamber|camera oculi anterior|anterior chamber|camera anterior bulbi|camera anterior|anterior chamber of eye http://purl.obolibrary.org/obo/UBERON_0001766 pheno_slim UBERON:0001769 biolink:AnatomicalEntity iris The adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye. AAO:0010347|EV:0100345|XAO:0000185|CALOHA:TS-0491|GAID:917|OpenCyc:Mx4rvVjbppwpEbGdrcN5Y29ycA|MA:0000273|EMAPA:19154|BTO:0000653|EFO:0004245|MESH:D007498|VHOG:0000101|UMLS:C0022077|ZFA:0001238|FMA:58235|NCIT:C12737|SCTID:181164000|TAO:0001238|Wikipedia:Iris_(anatomy) hp.json irides|anterior uvea|irises http://purl.obolibrary.org/obo/UBERON_0001769 pheno_slim|efo_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0001768 biolink:AnatomicalEntity uvea The pigmented middle of the three concentric layers that make up an eye, consisting of the iris, ciliary body and choroid[WP,edited]. EMAPA:35901|GAID:912|SCTID:280648000|UMLS:C0042160|CALOHA:TS-2228|MA:0002480|FMA:58103|Wikipedia:Uvea|NCIT:C12811|MESH:D014602 hp.json tunica vasculatis oculi|pars iridica retinae|pars iridica retinae|uveal tract|tunica vasculosa bulbi|tunica vasculosa of eyeball|tunica vasculatis oculi|vascular layer of eyeball|uvea|tunica vasculosa bulbi http://purl.obolibrary.org/obo/UBERON_0001768 pheno_slim|uberon_slim HP:0033587 biolink:PhenotypicFeature Vulvar abscess A circumscribed area of pus or necrotic debris in the vulvar region. hp.json http://purl.obolibrary.org/obo/HP_0033587 UBERON:0013752 biolink:AnatomicalEntity diaphysis of metacarpal bone A diaphysis that is part of a metacarpal bone. FMA:33804 hp.json metacarpal bone diaphysis|shaft of metacarpal|corpus ossis metacarpi|body of metacarpal|shaft of metacarpal bone http://purl.obolibrary.org/obo/UBERON_0013752 UBERON:0013753 biolink:AnatomicalEntity distal epiphysis of metacarpal bone A distal epiphysis that is part of a metacarpal bone. FMA:33798 hp.json caput ossis metacarpi|lower end of metacarpal bone|distal end of metacarpal bone|head of metacarpal bone http://purl.obolibrary.org/obo/UBERON_0013753 pheno_slim HP:0033586 biolink:PhenotypicFeature Cellular non-specific interstitial pneumonia A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia. hp.json http://purl.obolibrary.org/obo/HP_0033586 HP:0033589 biolink:PhenotypicFeature Flatulence Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating. hp.json http://purl.obolibrary.org/obo/HP_0033589 UBERON:0035102 biolink:AnatomicalEntity transverse process of caudal vertebra A transverse process that is part of a caudal vertebra. hp.json http://purl.obolibrary.org/obo/UBERON_0035102 UBERON:0013754 biolink:AnatomicalEntity integumentary system layer An organ component layer that is part of a integumental system. SCTID:314820002 hp.json skin layer|layer of skin http://purl.obolibrary.org/obo/UBERON_0013754 non_informative UBERON:0013755 biolink:AnatomicalEntity arterial blood A blood that is part of a artery. FMA:83066 hp.json arterial blood|blood in artery|portion of arterial blood http://purl.obolibrary.org/obo/UBERON_0013755 pheno_slim HP:0033588 biolink:PhenotypicFeature Labial adhesion Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. hp.json Labial agglutination|Synechia vulvae http://purl.obolibrary.org/obo/HP_0033588 HP:0033583 biolink:PhenotypicFeature Follicular bronchiolitis Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways. hp.json http://purl.obolibrary.org/obo/HP_0033583 UBERON:0035104 biolink:AnatomicalEntity raphe of penis FMA:19646 hp.json raphe penis|penile raphe http://purl.obolibrary.org/obo/UBERON_0035104 HP:0033582 biolink:PhenotypicFeature Pulmonary interstitial lymphocyte infiltration Abnormal accumulation of lymphocytes in the interstitium of the lung. hp.json http://purl.obolibrary.org/obo/HP_0033582 UBERON:0013750 biolink:AnatomicalEntity metaphysis of tibia A metaphysis that is part of a tibia. EMAPA:37772|FMA:33135|MA:0003106 hp.json tibial metaphysis http://purl.obolibrary.org/obo/UBERON_0013750 pheno_slim UBERON:0035106 biolink:AnatomicalEntity raphe of perineum The perineal raphe extends from the anus, through the mid-line of the scrotum (scrotal raphe) and upwards through the posterior mid-line aspect of the penis (penile raphe). FMA:20244 hp.json raphe perinei|raphe perinealis|perineal raphe http://purl.obolibrary.org/obo/UBERON_0035106 HP:0033585 biolink:PhenotypicFeature Fibrotic non-specific interstitial pneumonia A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation. hp.json http://purl.obolibrary.org/obo/HP_0033585 UBERON:0013751 biolink:AnatomicalEntity metaphysis of radius A metaphysis that is part of a radius bone. FMA:33789 hp.json radial metaphysis http://purl.obolibrary.org/obo/UBERON_0013751 pheno_slim HP:0033584 biolink:PhenotypicFeature Nonspecific interstitial pneumonia Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa. hp.json Temporally uniform pulmonary inflammation|NSIP|Nonspecific interstitial pneumonitis http://purl.obolibrary.org/obo/HP_0033584 UBERON:0035105 biolink:AnatomicalEntity sac of scrotum Any of the two testis-carrying compartments of the scrotum. FMA:18251 hp.json testis comartment|scrotal sac|scrotal comartment http://purl.obolibrary.org/obo/UBERON_0035105 UBERON:0013749 biolink:AnatomicalEntity metaphysis of humerus A metaphysis that is part of a metaphysis. FMA:32830 hp.json humeral metaphysis|diaphyseal end of humerus http://purl.obolibrary.org/obo/UBERON_0013749 pheno_slim CHEBI:61336 biolink:ChemicalSubstance C4-dicarboxylate A dicarboxylate that contains four carbon atoms. hp.json http://purl.obolibrary.org/obo/CHEBI_61336 3_STAR UBERON:0013748 biolink:AnatomicalEntity ulnar metaphysis A metaphysis that is part of a ulna. FMA:33767 hp.json metaphysis of ulna http://purl.obolibrary.org/obo/UBERON_0013748 pheno_slim UBERON:0001774 biolink:AnatomicalEntity skeletal muscle of trunk A skeletal muscle organ that is part of the trunk region. XAO:0003230|TAO:0000473|EMAPA:35888|MA:0000514|FMA:58274|ZFA:0000473|AAO:0000611 hp.json muscle organ of torso|muscle of trunk|torso muscle organ|trunk muscle organ|body musculature|trunk muscle|trunk musculature|muscle organ of trunk http://purl.obolibrary.org/obo/UBERON_0001774 uberon_slim|vertebrate_core UBERON:0001773 biolink:AnatomicalEntity sclera Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. SCTID:181163006|EV:0100342|MA:0000280|GAID:911|MESH:D012590|FMA:58269|VHOG:0001274|BTO:0001606|EMAPA:19027|OpenCyc:Mx4rv7yR55wpEbGdrcN5Y29ycA|UMLS:C0036410|Wikipedia:Sclera|NCIT:C12784|AAO:0010354|ZFA:0005563|XAO:0000183 hp.json scleral capsule http://purl.obolibrary.org/obo/UBERON_0001773 pheno_slim|uberon_slim|vertebrate_core UBERON:0001776 biolink:AnatomicalEntity optic choroid Vascular layer containing connective tissue, of the eye lying between the retina and the sclera. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract[WP]. NCIT:C12344|MA:0000263|EMAPA:19077|VHOG:0001568|UMLS:C0008520|GAID:913|SCTID:181172003|MESH:D002829|BTO:0001829|Wikipedia:Choroid|ZFA:0005229|FMA:58298|EV:0100347|TAO:0005229|CALOHA:TS-2054 hp.json choroidea|choroid coat|chorioid|choroidea|choroidea|posterior uvea|choroidea|choroid coat|posterior uvea|eye choroid|optic choroid|choroid http://purl.obolibrary.org/obo/UBERON_0001776 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0001775 biolink:AnatomicalEntity ciliary body The thickened portion of the vascular tunic, which lies between the choroid and the iris, composed of ciliary muscle and ciliary processes. EMAPA:19065|AAO:0010341|VHOG:0000102|MESH:D002924|BTO:0000260|Wikipedia:Ciliary_body|CALOHA:TS-0694|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1571|SCTID:263340007|FMA:58295|XAO:0000186|EV:0100346|NCIT:C12345|MA:0000264|UMLS:C0008779|GAID:916 hp.json ciliary bodies|corpus ciliare|corpus ciliare|ocular ciliary body|corpus ciliare|anterior uvea|corpus ciliare http://purl.obolibrary.org/obo/UBERON_0001775 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core HP:0008577 biolink:PhenotypicFeature Underfolded helix Underdevelopment of the helix that either affects the entire helix, or is localized. UMLS:C1849735 hp.json Poorly folded helices http://purl.obolibrary.org/obo/HP_0008577 HP:0008572 biolink:PhenotypicFeature External ear malformation A malformation of the auricle of the ear. UMLS:C1846460 hp.json External ear malformation http://purl.obolibrary.org/obo/HP_0008572 UBERON:0001772 biolink:AnatomicalEntity corneal epithelium The smooth stratified squamous epithelium that covers the outer surface of the cornea. EMAPA:17162|TAO:0002187|NCIT:C12928|BTO:0000287|UMLS:C0459875|Wikipedia:Corneal_epithelium|EHDAA2:0000319|EFO:0001917|MESH:D019573|SCTID:368825001|GAID:895|FMA:58263|ZFA:0001683|CALOHA:TS-0173|MA:0001243 hp.json epithelium anterius corneae|epithelium corneæ anterior layer|anterior corneal epithelium|epithelial tissue of cornea|cornea epithelium|epithelium of cornea|e. anterius corneae|endothelium corneale|epithelium anterius (cornea)|anterior endothelium of cornea|cornea epithelial tissue|epithelium posterius corneae|endothelium anterius corneae|external epithelium of cornea|e. anterius corneae|endothelium camerae anterioris bulbi http://purl.obolibrary.org/obo/UBERON_0001772 human_reference_atlas|efo_slim|uberon_slim|vertebrate_core|pheno_slim UBERON:0001771 biolink:AnatomicalEntity pupil The central circular aperture of the iris through which light rays enter the eye. VHOG:0000116|AAO:0010351|MESH:D011680|TAO:0001283|MA:0001292|NCIT:C33429|OpenCyc:Mx4rvViBr5wpEbGdrcN5Y29ycA|UMLS:C0034121|FMA:58252|GAID:918|XAO:0000283|ZFA:0001283 hp.json pupils http://purl.obolibrary.org/obo/UBERON_0001771 uberon_slim|vertebrate_core|pheno_slim HP:0008573 biolink:PhenotypicFeature Low-frequency sensorineural hearing impairment A form of sensorineural hearing impairment that affects primarily the lower frequencies. UMLS:C3810445 hp.json Low-frequency sensorineural hearing loss http://purl.obolibrary.org/obo/HP_0008573 HP:0033590 biolink:PhenotypicFeature Inguinal abscess A circumscribed area of pus or necrotic debris in the groin (inguinal region). hp.json Groin abscess http://purl.obolibrary.org/obo/HP_0033590 UBERON:0001759 biolink:AnatomicalEntity vagus nerve Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart). ZFA:0000453|EFO:0002549|BIRNLEX:801|BAMS:Xn|UMLS:C0042276|VHOG:0000737|BAMS:10n|TAO:0000453|AAO:0010475|EMAPA:37797|MESH:D014630|XAO:0003097|Wikipedia:Vagus_nerve|HBA:9337|SCTID:362466001|UMLS:C0042276|MBA:917|GAID:721|MA:0001106|OpenCyc:Mx4rviHk2ZwpEbGdrcN5Y29ycA|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=702|FMA:5731|UMLS:C1305910|NCIT:C12812|galen:VagusNerve|BTO:0003472 hp.json vagus X nerve|vagus nerve or its root|pneuomgastric nerve|nervus vagus|10n|vagal nerve|nervus vagus|nervus vagus [x]|vagus|vagus nerve tree|cranial nerve X|vagus nerve [X]|nerve X|tenth cranial nerve|CN-X|nervus vagus http://purl.obolibrary.org/obo/UBERON_0001759 vertebrate_core|pheno_slim|human_reference_atlas|efo_slim|uberon_slim HP:0033592 biolink:PhenotypicFeature Anti-H3-H4 antibody positivity The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer. hp.json http://purl.obolibrary.org/obo/HP_0033592 HP:0033591 biolink:PhenotypicFeature Staghorn calculus Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. hp.json Staghorn renal stone http://purl.obolibrary.org/obo/HP_0033591 HP:0008591 biolink:PhenotypicFeature Congenital conductive hearing impairment A type of conductive deafness with congenital onset. UMLS:C4021537 hp.json Congenital conductive hearing loss|Congenital conductive deafness http://purl.obolibrary.org/obo/HP_0008591 UBERON:0001756 biolink:AnatomicalEntity middle ear The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window)[GO]. EV:0100357|UMLS:C0013455|GAID:165|EMAPA:17000|MA:0000253|UMLS:C1268972|UMLS:C0013455|MAT:0000146|FMA:56513|MESH:D004432|NCIT:C12274|XAO:0000191|MIAA:0000146|AAO:0011065|EHDAA:5693|VHOG:0000312|OpenCyc:Mx4rvbw1j5wpEbGdrcN5Y29ycA|BTO:0002099|EHDAA2:0001181|BIRNLEX:1695|CALOHA:TS-2233 hp.json auris media|auris media http://purl.obolibrary.org/obo/UBERON_0001756 pheno_slim|uberon_slim UBERON:0001758 biolink:AnatomicalEntity periodontium The tissues that invest or help to invest and support the teeth, including the periodontal ligament, gingivae, cementum, and alveolar and supporting bone[BTO]. CALOHA:TS-2380|MESH:D010519|UMLS:C0031093|GAID:216|BTO:0001021|NCIT:C33304 hp.json periodontal ligament|tooth supporting structure|periodontal membrane|paradentium http://purl.obolibrary.org/obo/UBERON_0001758 pheno_slim UBERON:0001757 biolink:AnatomicalEntity pinna The part of the ear that projects from the head, connecting to the external acoustic meatus. FMA:56580|UMLS:C0928075|EHDAA2:0001467|EV:0100355|OpenCyc:Mx4rvs_VC5wpEbGdrcN5Y29ycA|NCIT:C32165|galen:Auricle|EMAPA:17589|MA:0000259|VHOG:0000460 hp.json auricle of ear|auricle of external ear|auricula (auris externa)|pinna of ear|auricula|auricle|pinnae http://purl.obolibrary.org/obo/UBERON_0001757 pheno_slim|uberon_slim HP:0033598 biolink:PhenotypicFeature Fibrillar glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). hp.json http://purl.obolibrary.org/obo/HP_0033598 UBERON:0035111 biolink:AnatomicalEntity medial plantar nerve A plantar nerve that supplies the medial side of the plantar part of the foot, including pedal digit 1. FMA:44716 hp.json nervus plantaris medialis|internal plantar nerve http://purl.obolibrary.org/obo/UBERON_0035111 UBERON:0035110 biolink:AnatomicalEntity lateral plantar nerve A plantar nerve that supplies the lateral side of the plantar part of the foot, including pedal digit 5. FMA:44724 hp.json nervus plantaris lateralis|external plantar nerve http://purl.obolibrary.org/obo/UBERON_0035110 HP:0033597 biolink:PhenotypicFeature Decreased mucosal sucrase-isomaltase activity Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi. hp.json http://purl.obolibrary.org/obo/HP_0033597 HP:0033599 biolink:PhenotypicFeature Glomerular amyloid subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). hp.json http://purl.obolibrary.org/obo/HP_0033599 UBERON:0035112 biolink:AnatomicalEntity intrinsic muscle Any of the muscles that are entirely within the body part or segment moved by them. hp.json http://purl.obolibrary.org/obo/UBERON_0035112 grouping_class HP:0033594 biolink:PhenotypicFeature Elevated urinary 7-biopterin level An abnormally increased amount of 7-biopterin in the urine. hp.json Primapterinuria http://purl.obolibrary.org/obo/HP_0033594 CHEBI:51958 biolink:ChemicalSubstance organic polycyclic compound hp.json organic polycyclic compounds http://purl.obolibrary.org/obo/CHEBI_51958 3_STAR UBERON:0035115 biolink:AnatomicalEntity diastema between central incisors A space or gap between the left and right central incisors, on either the upper or lower jaw. hp.json midline diastema|interdental space, central incisors http://purl.obolibrary.org/obo/UBERON_0035115 HP:0033593 biolink:PhenotypicFeature Anti-H2A-H2B antibody positivity The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer. hp.json http://purl.obolibrary.org/obo/HP_0033593 CHEBI:48300 biolink:ChemicalSubstance D-threitol The D-enantiomer of threitol. KEGG:C16884|PMID:17577890|Gmelin:1782960|PMID:25108762|PMID:17979222|Beilstein:5725952|PDBeChem:DTL|PMID:24643482|HMDB:HMDB0004136|PMID:22735334|DrugBank:DB03278|Wikipedia:Threitol|PMID:6368527|PMID:5855592|MetaCyc:CPD-12825|PMID:18863753|PMID:1596913|CAS:2418-52-2|CAS:7493-90-5|PMID:16748290|PMID:908147|Reaxys:1719752|Beilstein:1719752|PMID:16901854 hp.json D-threo-tetritol|(2R,3R)-butane-1,2,3,4-tetrol|D-threitol http://purl.obolibrary.org/obo/CHEBI_48300 3_STAR UBERON:0035117 biolink:AnatomicalEntity diastema between lower central incisors A space or gap between the left and right central incisors on the lower jaw. hp.json interdental space between mandibular central incisors|midline mandibular diastema|interdental space, lower central incisors http://purl.obolibrary.org/obo/UBERON_0035117 HP:0033596 biolink:PhenotypicFeature Elevated urinary 3-methylcrotonylglycine level An abnormally increased amount of 3-methylcrotonylglycine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033596 HP:0033595 biolink:PhenotypicFeature Elevated circulating globotriaosylceramide concentration Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease. hp.json Elevated circulating ceramidetrihexoside concentration http://purl.obolibrary.org/obo/HP_0033595 UBERON:0035116 biolink:AnatomicalEntity diastema between upper central incisors A space or gap between the left and right central incisors on the upper jaw. hp.json interdental space between maxillary central incisors|midline maxillary diastema|interdental space, upper central incisors http://purl.obolibrary.org/obo/UBERON_0035116 UBERON:0035109 biolink:AnatomicalEntity plantar nerve A nerve that innervates the sole of the foot. Planar nerves arise from the posterior branch of the tibial nerve. NCIT:C77674 hp.json nerve, plantar http://purl.obolibrary.org/obo/UBERON_0035109 CHEBI:36339 biolink:ChemicalSubstance baryon Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). hp.json baryons http://purl.obolibrary.org/obo/CHEBI_36339 3_STAR CHEBI:36338 biolink:ChemicalSubstance lepton Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). hp.json leptons http://purl.obolibrary.org/obo/CHEBI_36338 3_STAR HP:0008587 biolink:PhenotypicFeature Mild neurosensory hearing impairment The presence of a mild form of sensorineural hearing impairment. UMLS:C4021538 hp.json Mild neurosensory hearing loss http://purl.obolibrary.org/obo/HP_0008587 UBERON:0001763 biolink:AnatomicalEntity odontogenic papilla A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. XAO:0004045|GAID:1277|MESH:D003771|VSAO:0000025|ZFA:0005140|VHOG:0001465|EMAPA:32892|FMA:57662|TAO:0005140|BTO:0001839|MA:0001598 hp.json pharyngeal tooth mesenchyme|tooth mesenchyme|dental papilla|papilla dentis|dermal papilla|odontogenic condensation|dentinal papilla http://purl.obolibrary.org/obo/UBERON_0001763 uberon_slim|vertebrate_core HP:0008586 biolink:PhenotypicFeature Hypoplasia of the cochlea Developmental hypoplasia of the cochlea. UMLS:C2676974 hp.json Hypoplastic cochlea|Underdeveloped cochlea http://purl.obolibrary.org/obo/HP_0008586 UBERON:0001765 biolink:AnatomicalEntity mammary duct Epithelial tube that transports milk[GO]. BTO:0002845|MA:0000791|EMAPA:35538|UMLS:C0222613|FMA:58006|NCIT:C32910|CALOHA:TS-2385 hp.json galactophorous duct|ductus lactiferi|mammary gland duct|lactiferous gland duct|lactiferous duct|lactiferous tubule|galactophorous tubule|mammilary duct|ductus lactiferi http://purl.obolibrary.org/obo/UBERON_0001765 pheno_slim|uberon_slim HP:0008589 biolink:PhenotypicFeature Hypoplastic helices Underdevelopment of the helix, i.e., of the outer rim of the pinna. UMLS:C1842681 hp.json Underdeveloped helices http://purl.obolibrary.org/obo/HP_0008589 HP:0008588 biolink:PhenotypicFeature Slit-like opening of the exterior auditory meatus A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. UMLS:C1846459 hp.json http://purl.obolibrary.org/obo/HP_0008588 UBERON:0001764 biolink:AnatomicalEntity maxillary sinus One of the paired paranasal sinuses, located in the body of the maxilla, communicating with the middle meatus of the nasal cavity. FMA:57715|OpenCyc:Mx4rvp2ZWJwpEbGdrcN5Y29ycA|NCIT:C12275|MESH:D008443|GAID:358|UMLS:C0024957|CALOHA:TS-2231|MA:0001794 hp.json sinus maxilliaris|antrum of Highmore|maxillary antrum|Highmore antrum http://purl.obolibrary.org/obo/UBERON_0001764 pheno_slim|uberon_slim HP:0008583 biolink:PhenotypicFeature Underfolded superior helices A condition in which the superior portion of the helix is folded over to a lesser degree than normal. UMLS:C4024655 hp.json http://purl.obolibrary.org/obo/HP_0008583 UBERON:0001760 biolink:AnatomicalEntity frontal sinus The frontal sinus occupies the dorsal part of the skull medial to the orbit. It overlaps cranial and nasal cavities and is often referred to as the conchofrontal sinus. NCIT:C12277|OpenCyc:Mx4rvqMUR5wpEbGdrcN5Y29ycA|FMA:57417|UMLS:C0016734|GAID:357|MESH:D005626|MA:0001793 hp.json cavity of frontal bone|sinus frontales http://purl.obolibrary.org/obo/UBERON_0001760 pheno_slim|uberon_slim CHEBI:73336 biolink:ChemicalSubstance vulnerary A drug used in treating and healing of wounds. Wikipedia:Wound_healing hp.json vulneraries|wound-healing agent|wound-healing drugs|wound-healing drug|wound-healing agents http://purl.obolibrary.org/obo/CHEBI_73336 3_STAR UBERON:0011151 biolink:AnatomicalEntity jaw depressor muscle A muscle whose action is to depress the lower jaw. XAO:0004127|AAO:0010655|TAO:0000612 hp.json geniohyoideus muscle|protractor hyoidei|protractor hyoideus|geniohyoideus|branchiomandibularis|coracomandibularis|geniothoracis|depressor gnathalis http://purl.obolibrary.org/obo/UBERON_0011151 CHEBI:26986 biolink:ChemicalSubstance threonine An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 1-hydroxyethyl group. CAS:80-68-2|Beilstein:8204750|Wikipedia:Threonine|PMID:15221503|CAS:80-68-2|PMID:11379295|PMID:22264337 hp.json threonine|Threonin http://purl.obolibrary.org/obo/CHEBI_26986 3_STAR HP:0033521 biolink:PhenotypicFeature Nasal dryness A lack of humidification of the nasal mucosa. hp.json http://purl.obolibrary.org/obo/HP_0033521 HP:0033520 biolink:PhenotypicFeature Paradoxical embolism Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation. Comment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke. hp.json http://purl.obolibrary.org/obo/HP_0033520 CHEBI:26981 biolink:ChemicalSubstance threitol PMID:20717558|Gmelin:82500|CAS:7493-90-5 hp.json (R*,R*)-1,2,3,4-butanetetrol|rel-(2R,3R)-butane-1,2,3,4-tetrol|threo-tetritol http://purl.obolibrary.org/obo/CHEBI_26981 3_STAR HP:0033523 biolink:PhenotypicFeature Abnormal sperm principal piece morphology A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece. hp.json http://purl.obolibrary.org/obo/HP_0033523 UBERON:0011152 biolink:AnatomicalEntity dorsal hyoid arch skeleton ZFA:0001401|TAO:0001401|XAO:0003178|AAO:0010371 hp.json dorsal hyoid arch|dorsal visceral arch 2|dorsal pharyngeal arch 2 skeleton http://purl.obolibrary.org/obo/UBERON_0011152 CHEBI:36309 biolink:ChemicalSubstance cyclic tetrapyrrole hp.json macrocyclic tetrapyrroles|macrocyclic tetrapyrrole|cyclic tetrapyrroles http://purl.obolibrary.org/obo/CHEBI_36309 3_STAR HP:0033522 biolink:PhenotypicFeature Cerebral cavernous malformation A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. hp.json http://purl.obolibrary.org/obo/HP_0033522 UBERON:0011159 biolink:AnatomicalEntity primary subdivision of cranial skeletal system hp.json http://purl.obolibrary.org/obo/UBERON_0011159 non_informative UBERON:0011158 biolink:AnatomicalEntity primary subdivision of skull The skull can be divided into two: the neurocranium and the facial skeleton. FMA:54964 hp.json subdivision of skull|skull subdivision http://purl.obolibrary.org/obo/UBERON_0011158 non_informative UBERON:0011156 biolink:AnatomicalEntity facial skeleton Subdivision of skull that consists of the facial bones. EHDAA:8361|Wikipedia:Facial_skeleton|EHDAA2:0002206|EMAPA:18022|MA:0000318|FMA:53673 hp.json facial bone|facial skeleton|ossa faciei|ossa facialia|ossa faciei|ossa facialia|viscerocranium http://purl.obolibrary.org/obo/UBERON_0011156 pheno_slim HP:0033529 biolink:PhenotypicFeature Abnormal cardiac index Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area. hp.json http://purl.obolibrary.org/obo/HP_0033529 HP:0033528 biolink:PhenotypicFeature Abnormal cardiac output A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs. hp.json http://purl.obolibrary.org/obo/HP_0033528 CHEBI:61355 biolink:ChemicalSubstance 3-hydroxy carboxylic acid Any hydroxy carboxylic acid which contains a hydroxy group located beta- to the carboxylic acid group. hp.json beta-hydroxy carboxylic acids|beta-hydroxycarboxylic acid|3-hydroxy carboxylic acids|3-hydroxycarboxylic acid|3-hydroxycarboxylic acids|beta-hydroxycarboxylic acids|beta-hydroxy carboxylic acid http://purl.obolibrary.org/obo/CHEBI_61355 3_STAR CHEBI:36300 biolink:ChemicalSubstance tricarboxylic acid dianion hp.json tricarboxylic acid dianions http://purl.obolibrary.org/obo/CHEBI_36300 3_STAR HP:0033525 biolink:PhenotypicFeature Absent sperm axoneme central pair complex Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. hp.json Absent central pair complex (9+0 pattern) http://purl.obolibrary.org/obo/HP_0033525 HP:0033524 biolink:PhenotypicFeature Abnormal sperm axoneme morphology Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC. hp.json http://purl.obolibrary.org/obo/HP_0033524 HP:0033527 biolink:PhenotypicFeature Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin). hp.json Decreased plasma testosterone-to-androstenedione ratio http://purl.obolibrary.org/obo/HP_0033527 HP:0033526 biolink:PhenotypicFeature Limited ankle dorsiflexion Reduced ability to move the foot up toward the shin. hp.json Tight heel cord|Heel cord tightness http://purl.obolibrary.org/obo/HP_0033526 CHEBI:24329 biolink:ChemicalSubstance glutarate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of glutaric acid. hp.json glutaric acid anion|glutarate anion|glutarates http://purl.obolibrary.org/obo/CHEBI_24329 3_STAR UBERON:0011144 biolink:AnatomicalEntity adductor muscle of hip BTO:0000030|MA:0002267|EMAPA:19166 hp.json adductor group (leg)|muscle of adductor group http://purl.obolibrary.org/obo/UBERON_0011144 CHEBI:61360 biolink:ChemicalSubstance globoside Any glycosphingolipid where the oligosaccharide component has an N-acetylgalactosaminyl residue at the non-reducing end. Wikipedia:Globoside hp.json globosides http://purl.obolibrary.org/obo/CHEBI_61360 3_STAR HP:0033532 biolink:PhenotypicFeature Decreased cardiac output A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. hp.json http://purl.obolibrary.org/obo/HP_0033532 UBERON:0011143 biolink:AnatomicalEntity upper urinary tract Subdivision of urinary system which consists of the kidney and the ureters. galen:UpperUrinaryTract|FMA:45658|NCIT:C61107 hp.json http://purl.obolibrary.org/obo/UBERON_0011143 pheno_slim HP:0033531 biolink:PhenotypicFeature Decreased cardiac index A reduced cardiac index, defined as cardiac output divided by body surface area. hp.json http://purl.obolibrary.org/obo/HP_0033531 UBERON:0011142 biolink:AnatomicalEntity axial ossicle Ossicle that is part of the axial skeleton. VSAO:0000133 hp.json ossicle of postcranial-axial skeleton|vertebral ossicle|ossicle of axial skeleton http://purl.obolibrary.org/obo/UBERON_0011142 HP:0033534 biolink:PhenotypicFeature Increased circulating brain natriuretic peptide concentration An increased concentration of brain natriuretic peptide in the blood circulation. hp.json Increased B-type natriuretic peptide|Increased ventricular natriuretic peptide|Elevated circulating BNP concentration http://purl.obolibrary.org/obo/HP_0033534 UBERON:0011141 biolink:AnatomicalEntity appendicular ossicle Ossicle that is part of the appendicular skeleton. VSAO:0000131|XAO:0004194 hp.json ossicle of appendicular skeleton http://purl.obolibrary.org/obo/UBERON_0011141 HP:0033533 biolink:PhenotypicFeature Increased cardiac output An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. hp.json http://purl.obolibrary.org/obo/HP_0033533 UBERON:0011148 biolink:AnatomicalEntity submucosal gland Gland of the lamina epithelialis mucosae which perforate the lamina muscularis, with their adenomeres located in the submucosal connective tissue. BTO:0003751|Wikipedia:Submucosal_glands|EMAPA:37970 hp.json http://purl.obolibrary.org/obo/UBERON_0011148 HP:0033530 biolink:PhenotypicFeature Increased cardiac index An elevated cardiac index, defined as cardiac output divided by body surface area. hp.json http://purl.obolibrary.org/obo/HP_0033530 UBERON:0011145 biolink:AnatomicalEntity adductor muscle A muscle capable of adduction. Adduction is a movement which brings a part of the anatomy closer to the middle sagittal plane of the body. It is opposed to abduction. FMA:74998|TAO:0002136|ZFA:0005268 hp.json adductor http://purl.obolibrary.org/obo/UBERON_0011145 functional_classification CL:1001611 biolink:Cell cerebellar neuron Neuron of the cerebellum. FMA:84665|CALOHA:TS-2359 hp.json cerebellum neuron http://purl.obolibrary.org/obo/CL_1001611 CHEBI:38976 biolink:ChemicalSubstance alkylbenzene A monocyclic arene that is benzene substituted with one or more alkyl groups. hp.json alkylbenzenes|alkylbenzene|Alkylbenzol http://purl.obolibrary.org/obo/CHEBI_38976 3_STAR CL:1001610 biolink:Cell bone marrow hematopoietic cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. CALOHA:TS-2109 hp.json bone marrow hematopoietic cells|bone marrow poietic cells http://purl.obolibrary.org/obo/CL_1001610 HP:0033539 biolink:PhenotypicFeature Bilateral apical pulmonary fibrosis A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray. hp.json http://purl.obolibrary.org/obo/HP_0033539 CHEBI:38975 biolink:ChemicalSubstance methylbenzene Any alkylbenzene that is benzene substituted with one or more methyl groups. hp.json methylbenzenes http://purl.obolibrary.org/obo/CHEBI_38975 3_STAR UBERON:0011139 biolink:AnatomicalEntity synovial limb joint Any synovial joint that is part of a (free) limb. FMA:258776 hp.json synovial joint of free limb segment http://purl.obolibrary.org/obo/UBERON_0011139 UBERON:0011138 biolink:AnatomicalEntity postcranial axial skeletal system Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. FMA:302077 hp.json axial skeletal system|post-cranial axial skeletal system|axial skeletal system http://purl.obolibrary.org/obo/UBERON_0011138 GO:0120262 biolink:BiologicalProcess negative regulation of heterochromatin organization Any process that stops, prevents, or reduces the frequency, rate or extent of heterochromatin organization. hp.json down regulation of heterochromatin organization|inhibition of heterochromatin organization|down-regulation of heterochromatin organization|downregulation of heterochromatin organization http://purl.obolibrary.org/obo/GO_0120262 HP:0033536 biolink:PhenotypicFeature Reduced platelet alpha granules A reduced number of platelet alpha granules. hp.json http://purl.obolibrary.org/obo/HP_0033536 HP:0033535 biolink:PhenotypicFeature Reduced platelet dense granules Decreased number of platelet dense granules, a type of platelet organelle. hp.json http://purl.obolibrary.org/obo/HP_0033535 GO:0120263 biolink:BiologicalProcess positive regulation of heterochromatin organization Any process that activates or increases the frequency, rate or extent of heterochromatin organization. hp.json upregulation of heterochromatin organization|up regulation of heterochromatin organization|stimulation of heterochromatin organization|up-regulation of heterochromatin organization|activation of heterochromatin organization http://purl.obolibrary.org/obo/GO_0120263 HP:0033538 biolink:PhenotypicFeature Aortic annulus calcification Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract. hp.json Aortic annular calcification http://purl.obolibrary.org/obo/HP_0033538 PR:000001753 biolink:Protein transcription factor NF-kappa-B subunit A protein with a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. PIRSF:PIRSF036310 hp.json transcription factor NF-kappa-B http://purl.obolibrary.org/obo/PR_000001753 HP:0033537 biolink:PhenotypicFeature Mosaic pulmonary attenuation pattern Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging. hp.json http://purl.obolibrary.org/obo/HP_0033537 GO:0120261 biolink:BiologicalProcess regulation of heterochromatin organization Any process that modulates the frequency, rate, extent or location of heterochromatin organization. hp.json http://purl.obolibrary.org/obo/GO_0120261 HP:0033543 biolink:PhenotypicFeature Nicotine addiction Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences. hp.json Nicotine dependence http://purl.obolibrary.org/obo/HP_0033543 UBERON:0011133 biolink:AnatomicalEntity intermetatarsal joint A joint that connects two adjacent metatarsals. FMA:35219 hp.json http://purl.obolibrary.org/obo/UBERON_0011133 UBERON:0011132 biolink:AnatomicalEntity intercarpal joint A skeletal joint that connects two carpal bones. UMLS:C1262468|FMA:35292|NCIT:C32264 hp.json intercarpal|midcarpal articulation|carpal joint|intercarpal articulation http://purl.obolibrary.org/obo/UBERON_0011132 HP:0033542 biolink:PhenotypicFeature Bronchial wall thickening Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. hp.json Peribronchial thickening|Peribronchial cuffing http://purl.obolibrary.org/obo/HP_0033542 UBERON:0011131 biolink:AnatomicalEntity intermetacarpal joint A skeletal joint that connects two adjacent metacarpals[FMA,modified]. FMA:35288 hp.json intermetacarpal articulation|intermetacarpal http://purl.obolibrary.org/obo/UBERON_0011131 HP:0033545 biolink:PhenotypicFeature Mesangial fibrillary deposits Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. hp.json http://purl.obolibrary.org/obo/HP_0033545 HP:0033544 biolink:PhenotypicFeature Mesangial fibril deposition Extracellular mesangial accumulation of slender proteinaceous fibers. hp.json http://purl.obolibrary.org/obo/HP_0033544 UBERON:0011130 biolink:AnatomicalEntity temporomandibular joint primordium EMAPA:18714 hp.json temporo-mandibular joint primordium http://purl.obolibrary.org/obo/UBERON_0011130 UBERON:0011137 biolink:AnatomicalEntity axial skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. FMA:7483 hp.json http://purl.obolibrary.org/obo/UBERON_0011137 UBERON:0011136 biolink:AnatomicalEntity ligament of vertebral column Ligament that joins successive centra. Important in controlling the stiffness of the vertebral column when it flexes. FMA:31892 hp.json vertebral column ligament|vertebral centrum ligament|intervertebral ligament http://purl.obolibrary.org/obo/UBERON_0011136 HP:0033541 biolink:PhenotypicFeature Irreversible airflow obstruction Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. hp.json Irreversible pulmonary obstruction http://purl.obolibrary.org/obo/HP_0033541 UBERON:0011135 biolink:AnatomicalEntity intervertebral cartilage A cartilage element that lies between two successive vertebral centra. AAO:0000795 hp.json http://purl.obolibrary.org/obo/UBERON_0011135 UBERON:0011134 biolink:AnatomicalEntity nonsynovial joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. FMA:7491 hp.json solid joint http://purl.obolibrary.org/obo/UBERON_0011134 HP:0033540 biolink:PhenotypicFeature Reversible airflow obstruction Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. hp.json Reversible pulmonary obstruction http://purl.obolibrary.org/obo/HP_0033540 GO:0120277 biolink:BiologicalProcess positive regulation of cerebral blood circulation Any process that activates or increases the frequency, rate or extent of cerebral blood circulation. hp.json up regulation of cerebral blood circulation|positive regulation of cerebrum blood circulation|up-regulation of cerebral blood circulation|activation of cerebral blood circulation|positive regulation of telencephalon blood circulation|upregulation of cerebral blood circulation http://purl.obolibrary.org/obo/GO_0120277 GO:0120278 biolink:BiologicalProcess negative regulation of cerebral blood circulation Any process that stops, prevents or reduces the frequency, rate or extent of cerebral blood circulation. hp.json negative regulation of cerebrum blood circulation|negative regulation of telencephalon blood circulation|downregulation of cerebral blood circulation|down regulation of cerebral blood circulation|inhibition of cerebral blood circulation|down-regulation of cerebral blood circulation http://purl.obolibrary.org/obo/GO_0120278 HP:0033547 biolink:PhenotypicFeature Mesangial immunotactoid deposits Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. hp.json http://purl.obolibrary.org/obo/HP_0033547 HP:0033546 biolink:PhenotypicFeature Mesangial microfibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. hp.json http://purl.obolibrary.org/obo/HP_0033546 HP:0033549 biolink:PhenotypicFeature Nodular mesangiosclerosis Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. hp.json http://purl.obolibrary.org/obo/HP_0033549 GO:0120275 biolink:BiologicalProcess cerebral blood circulation The flow of blood through the network of arteries and veins supplying the cerebrum, enabling the transport of nutrients to the tissues and the removal of waste products. hp.json telencephelon blood circulation|cerebrum blood circulation http://purl.obolibrary.org/obo/GO_0120275 GO:0120276 biolink:BiologicalProcess regulation of cerebral blood circulation Any process that modulates the frequency, rate or extent of cerebral blood circulation. hp.json regulation of telencephalon blood circulation|regulation of cerebrum blood circulation http://purl.obolibrary.org/obo/GO_0120276 HP:0033548 biolink:PhenotypicFeature Mesangial amyloid deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. hp.json http://purl.obolibrary.org/obo/HP_0033548 UBERON:0001799 biolink:AnatomicalEntity vitreous chamber of eyeball The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. BTO:0002087|EMAPA:37805|UMLS:C0229095|NCIT:C33885|FMA:58848|MA:0002461 hp.json camera postrema bulbi oculi|camera vitrea bulbi|camera vitrea|vitreous chamber|camera postrema bulbi oculi|postremal chamber of eyeball|postremal chamber|camera postrema http://purl.obolibrary.org/obo/UBERON_0001799 uberon_slim CHEBI:24315 biolink:ChemicalSubstance glutamic acid derivative An amino acid derivative resulting from reaction of glutamic acid at the amino group or either of the carboxy groups, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing glutamic acid residues. hp.json http://purl.obolibrary.org/obo/CHEBI_24315 3_STAR UBERON:0011122 biolink:AnatomicalEntity cricoarytenoid joint The cricoarytenoid articulation (or joint) is a joint connecting the cricoid cartilage and the arytenoid cartilage. FMA:55102|UMLS:C0225555|NCIT:C32397 hp.json crico-arytenoid joint|cricoarytenoid articulation|crico-arytenoid joint http://purl.obolibrary.org/obo/UBERON_0011122 HP:0033554 biolink:PhenotypicFeature Anti-Mi2 antibody positivity The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen. hp.json http://purl.obolibrary.org/obo/HP_0033554 UBERON:0011121 biolink:AnatomicalEntity cricothyroid joint The cricoarytenoid articulation (or joint) is a joint connecting the cricoid cartilage and the thyroid cartilage. FMA:55101|UMLS:C0225540|NCIT:C32402 hp.json crico-thyroid joint|cricothyroid articulation http://purl.obolibrary.org/obo/UBERON_0011121 HP:0033553 biolink:PhenotypicFeature Septic embolism Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system. hp.json Septic emboli http://purl.obolibrary.org/obo/HP_0033553 HP:0033556 biolink:PhenotypicFeature Anti-nucleoporin 62 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62. hp.json Anti-p62 antibody positivity http://purl.obolibrary.org/obo/HP_0033556 UBERON:0011120 biolink:AnatomicalEntity laryngeal joint A skeletal joint that connects a laryngeal cartilage. FMA:55100 hp.json joint of larynx|laryngeal articulation http://purl.obolibrary.org/obo/UBERON_0011120 HP:0033555 biolink:PhenotypicFeature Anti-Ro/SS-A antibody positivity The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. hp.json Anti-Ro/SSA antibody positivity http://purl.obolibrary.org/obo/HP_0033555 HP:0033550 biolink:PhenotypicFeature Necrotizing pulmonary granulomatosis A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese. hp.json Caseating pulmonary granulomatosis http://purl.obolibrary.org/obo/HP_0033550 HP:0033552 biolink:PhenotypicFeature Chronic villitis Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. hp.json Chronic villitis (non-infectious)|Villitis of unknown aetiology|Nonspecific chronic villitis|Villitis of unknown etiology http://purl.obolibrary.org/obo/HP_0033552 HP:0033551 biolink:PhenotypicFeature Non-necrotizing pulmonary granulomatosis A granuloma located in the lung that is not associated with necrotic changes. hp.json Non-caseating pulmonary granulomatosis http://purl.obolibrary.org/obo/HP_0033551 UBERON:0011119 biolink:AnatomicalEntity carpometacarpal joint The carpometacarpal joints (CMC) are joints in the wrist that articulates the distal row of carpal bones and the proximal bases of the metacarpal bones. NCIT:C32265|MESH:D052737|UMLS:C0224620|FMA:35287 hp.json carpometacarpal articulation|articulationes carpometacarpeæ|CMJ|carpometacarpal http://purl.obolibrary.org/obo/UBERON_0011119 UBERON:0011118 biolink:AnatomicalEntity tarsometatarsal joint The tarsometatarsal articulations are arthrodial joints in the pes. FMA:35216 hp.json cuboideometatarsal|tarsometatarsal articulation|tarsometatarsal|Lisfranc joint|tarso-metatarsal join|articulationes tarsometatarsales http://purl.obolibrary.org/obo/UBERON_0011118 pheno_slim CHEBI:38958 biolink:ChemicalSubstance indole alkaloid An alkaloid containing an indole skeleton. Wikipedia:Indole_alkaloid|KEGG:C06073 hp.json indole alkaloids|Indole alkaloid http://purl.obolibrary.org/obo/CHEBI_38958 3_STAR UBERON:0013778 biolink:AnatomicalEntity skin of sole of pes A zone of skin that is part of a skin of pes. FMA:37849 hp.json plantar skin of foot|skin of plantar part of foot|skin of sole of foot http://purl.obolibrary.org/obo/UBERON_0013778 pheno_slim HP:0033558 biolink:PhenotypicFeature Anti-histone antibody positivity The presence of autoantibodies in the blood circulation that react against histone antigens. hp.json http://purl.obolibrary.org/obo/HP_0033558 HP:0033557 biolink:PhenotypicFeature Anti-proteinase 3 antibody positivity The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils hp.json Anti-PR3 antibody positivity http://purl.obolibrary.org/obo/HP_0033557 HP:0033559 biolink:PhenotypicFeature Anti-myeloperoxidase antibody positivity The presence of autoantibodies in the blood circulation that react against myeloperoxidase. hp.json Anti-MPO antibody positivity http://purl.obolibrary.org/obo/HP_0033559 CHEBI:24319 biolink:ChemicalSubstance EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of glutamate--ammonia ligase (EC 6.3.1.2). Wikipedia:Glutamine_synthetase hp.json glutamate--ammonia ligase inhibitor|L-glutamate:ammonia ligase (ADP-forming) inhibitors|EC 6.3.1.2 (glutamate--ammonia ligase) inhibitors|glutamate--ammonia ligase (EC 6.3.1.2) inhibitors|EC 6.3.1.2 inhibitor|EC 6.3.1.2 inhibitors|glutamate--ammonia ligase (EC 6.3.1.2) inhibitor|L-glutamate:ammonia ligase (ADP-forming) inhibitor|glutamate--ammonia ligase inhibitors|L-glutamine synthetase inhibitor|glutamine synthetase inhibitor|glutamylhydroxamic synthetase inhibitors|glutamine synthetase inhibitors|glutamylhydroxamic synthetase inhibitor|L-glutamine synthetase inhibitors http://purl.obolibrary.org/obo/CHEBI_24319 3_STAR CHEBI:24318 biolink:ChemicalSubstance glutamine family amino acid An L-alpha-amino acid which is L-glutamic acid or any of the essential amino acids biosynthesised from it (glutamine, proline and arginine). A closed class. PMID:20716061 hp.json glutamine family amino acids http://purl.obolibrary.org/obo/CHEBI_24318 3_STAR UBERON:0001705 biolink:AnatomicalEntity nail A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. GAID:1320|galen:Nail|MA:0002703|BTO:0001719|OpenCyc:Mx4rvVjJv5wpEbGdrcN5Y29ycA|EFO:0000956|CALOHA:TS-2034|VHOG:0001361|MESH:D009262|EMAPA:35580|EV:0100159|UMLS:C0027342|MAT:0000158|NCIT:C33156|FMA:54326|MIAA:0000158 hp.json claw|nail/claw|talon http://purl.obolibrary.org/obo/UBERON_0001705 efo_slim|uberon_slim|pheno_slim UBERON:0001707 biolink:AnatomicalEntity nasal cavity An anatomical cavity that is part of the olfactory apparatus. This includes the space bounded anteriorly by the nares and posteriorly by the choanae, when these structures are present. TAO:0000130|FMA:54378|EMAPA:17604|BTO:0002096|MESH:D009296|EHDAA2:0001226|VHOG:0000271|EHDAA:6801|NCIT:C12424|AAO:0000314|UMLS:C0027423|ZFA:0000130|GAID:350|MA:0000284 hp.json cavity of olfactory apparatus|nasal conduit space|olfactory cavity|cavitas nasi|cavity of nose|cavum nasi|nasal pit|olfactory chamber cavity|nasal canal|olfactory pit|cavitas nasi|olfactory chamber|nasal fossa|cavitas nasalis http://purl.obolibrary.org/obo/UBERON_0001707 uberon_slim|vertebrate_core|pheno_slim UBERON:0001706 biolink:AnatomicalEntity nasal septum The nasal septum separates the left and right airways in the nose, dividing the two nostrils. It is depressed by the Depressor septi nasi muscle. [WP,unvetted]. VHOG:0000017|OpenCyc:Mx4rv7e-k5wpEbGdrcN5Y29ycA|EHDAA:6809|FMA:54375|NCIT:C33160|MESH:D009300|UMLS:C0027432|GAID:115|AAO:0000559|AAO:0010135|EHDAA2:0001234|MA:0000285|EHDAA2:0004104|EMAPA:17608 hp.json septum of the nose|septum mobile nasi|septum nasi|septal cartilage|septum nasi http://purl.obolibrary.org/obo/UBERON_0001706 uberon_slim|pheno_slim GO:0097355 biolink:BiologicalProcess protein localization to heterochromatin Any process in which a protein is transported to, or maintained at, a part of a chromosome that is organized into heterochromatin. hp.json protein localisation to heterochromatin http://purl.obolibrary.org/obo/GO_0097355 UBERON:0001701 biolink:AnatomicalEntity glossopharyngeal ganglion The group of neuron cell bodies associated with the ninth cranial nerve. EHDAA:2838|FMA:53471|SCTID:244451008|EMAPA:16795|ZFA:0001301|EHDAA2:0000710|TAO:0001301|MA:0001077|VHOG:0000702 hp.json glossopharyngeal IX ganglion|ganglion of glosspharyngeal nerve|gIX|ganglion of glossopharyngeal nerve|petrosal ganglion http://purl.obolibrary.org/obo/UBERON_0001701 vertebrate_core|pheno_slim UBERON:0001700 biolink:AnatomicalEntity geniculate ganglion The group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve). EHDAA2:0000491|UMLS:C0017406|EMAPA:17569|BAMS:GgVII|TAO:0001291|VHOG:0000707|NCIT:C12721|EHDAA:5567|EFO:0003669|EHDAA2:0004623|GAID:718|FMA:53414|EHDAA:6644|MA:0001076|MESH:D005830|ZFA:0001291 hp.json ganglion geniculi|internal genu|geniculate ganglion|ganglion genicularum|gVII|genicular ganglion|facial ganglion|ganglion geniculi nervi facialis|facial VII ganglion|genicular ganglion|geniculate http://purl.obolibrary.org/obo/UBERON_0001700 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0001703 biolink:AnatomicalEntity neurocranium Subdivision of skeletal system that surrounds and protects the brain. Includes the skull base, sensory capsules and the central part of the skull roof. AAO:0010153|TAO:0001580|FMA:53672|MA:0000317|XAO:0003170|SCTID:361731002|Wikipedia:Neuroranium|EMAPA:17681|EHDAA2:0000243|ZFA:0001580 hp.json brain pan|brain box|brain case|braincase|brain pan http://purl.obolibrary.org/obo/UBERON_0001703 uberon_slim|vertebrate_core|pheno_slim UBERON:0001702 biolink:AnatomicalEntity eyelash Any of the hairs that grow at the edge of the upper or lower eyelid. GAID:73|UMLS:C0015422|MA:0002702|MESH:D005140|NCIT:C32576|OpenCyc:Mx4rvVi41pwpEbGdrcN5Y29ycA|FMA:53669 hp.json eyelid cilium|cilia|cilium|hair of eyelid|blepharis|eyelid cilia http://purl.obolibrary.org/obo/UBERON_0001702 uberon_slim|pheno_slim UBERON:0001709 biolink:AnatomicalEntity upper jaw region Subdivision of head that consists of the upper jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. EMAPA:17924|EHDAA:8025|VHOG:0000454|EHDAA2:0004607|FMA:59399|ncithesaurus:Upper_Jaw|EHDAA2:0002118|AAO:0000620 hp.json upper pharyngeal jaws|palatoquadrate arch|maxillary part of mouth|maxillary part of mouth proper|alveolodental arch of bimaxilla|dorsal mandibular arch|dorsal pharyngeal arch 1 http://purl.obolibrary.org/obo/UBERON_0001709 uberon_slim|vertebrate_core UBERON:0001708 biolink:AnatomicalEntity jaw skeleton Subdivision of skeleton which includes upper and lower jaw skeletons. MA:0001905|MESH:D007568|OpenCyc:Mx4rvVjjEZwpEbGdrcN5Y29ycA|UMLS:C0022359|EMAPA:35455|ZFA:0001227|FMA:54396|galen:Jaw|GAID:214|TAO:0001227|AAO:0000988|BTO:0001749|Wikipedia:Jaw|NCIT:C48821|SCTID:181811001 hp.json pharyngeal arch 1 skeleton|visceral arch 1|anterior splanchnocranium|mandibular arch skeleton|jaws|jaw cartilage|jaw|oral jaw skeleton|mandibular arch http://purl.obolibrary.org/obo/UBERON_0001708 uberon_slim|vertebrate_core|pheno_slim GO:1901165 biolink:BiologicalProcess positive regulation of trophoblast cell migration Any process that activates or increases the frequency, rate or extent of trophoblast cell migration. hp.json up regulation of trophoblast cell migration|up-regulation of trophoblast cell migration|activation of trophoblast cell migration|upregulation of trophoblast cell migration http://purl.obolibrary.org/obo/GO_1901165 GO:1901166 biolink:BiologicalProcess neural crest cell migration involved in autonomic nervous system development Any neural crest cell migration that is involved in autonomic nervous system development. hp.json http://purl.obolibrary.org/obo/GO_1901166 HP:0008518 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the vertebral column UMLS:C4024659 hp.json Absent/underdeveloped vertebral column|Absent/underdeveloped spine|Absent/small backbone|Absent/small vertebral column|Absent/small spine|Absent/underdeveloped backbone http://purl.obolibrary.org/obo/HP_0008518 HP:0008517 biolink:PhenotypicFeature Aplasia/Hypoplasia of the sacrum Aplasia or developmental hypoplasia of the sacral bone. UMLS:C4024660 hp.json Absent/underdeveloped sacrum|Absent/small sacrum http://purl.obolibrary.org/obo/HP_0008517 HP:0008519 biolink:PhenotypicFeature Abnormal coccyx morphology Any structural abnormality of the coccyx. UMLS:C4024658 hp.json Abnormal tailbone|Abnormality of the coccyx http://purl.obolibrary.org/obo/HP_0008519 HP:0008513 biolink:PhenotypicFeature Bilateral conductive hearing impairment A bilateral type of conductive hearing impairment. UMLS:C0452136|SNOMEDCT_US:194417009 hp.json Bilateral conductive hearing loss|Bilateral conductive deafness http://purl.obolibrary.org/obo/HP_0008513 HP:0008516 biolink:PhenotypicFeature Abnormality of the vertebral spinous processes UMLS:C4024661 hp.json http://purl.obolibrary.org/obo/HP_0008516 HP:0008515 biolink:PhenotypicFeature Aplasia/Hypoplasia of the vertebrae UMLS:C4024662 hp.json Absent/small vertebrae|Absent/underdeveloped vertebrae http://purl.obolibrary.org/obo/HP_0008515 UBERON:0001710 biolink:AnatomicalEntity lower jaw region Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. EFO:0003660|Wikipedia:Lower_jaw|SCTID:362637005|ncithesaurus:Lower_Jaw|FMA:59398|EHDAA2:0001018|EMAPA:17906|EHDAA:7995|MESH:D008334|AAO:0000272|VHOG:0000453 hp.json mandibular part of mouth|mandibular series|lower part of mouth http://purl.obolibrary.org/obo/UBERON_0001710 uberon_slim|vertebrate_core|efo_slim HP:0008511 biolink:PhenotypicFeature Central posterior corneal opacity Reduced transparency of the central posterior portion of the corneal stroma. UMLS:C0423260|SNOMEDCT_US:246967007 hp.json http://purl.obolibrary.org/obo/HP_0008511 GO:0097367 biolink:MolecularActivity carbohydrate derivative binding Binding to a carbohydrate derivative. hp.json http://purl.obolibrary.org/obo/GO_0097367 goslim_mouse|goslim_agr GO:0097360 biolink:BiologicalProcess chorionic trophoblast cell proliferation The multiplication or reproduction of chorionic trophoblast cells, resulting in the expansion of their population. hp.json http://purl.obolibrary.org/obo/GO_0097360 HP:0008529 biolink:PhenotypicFeature Absence of acoustic reflex Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. UMLS:C1832834 hp.json Absence of acoustic middle ear muscle reflexes|Absent middle ear reflexes http://purl.obolibrary.org/obo/HP_0008529 HP:0008528 biolink:PhenotypicFeature Long hairs growing from helix of pinna UMLS:C4024657|UMLS:C0222050|SNOMEDCT_US:27394002 hp.json Long hairs growing from helix of ear|Ear hair http://purl.obolibrary.org/obo/HP_0008528 HP:0008527 biolink:PhenotypicFeature Congenital sensorineural hearing impairment A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. UMLS:C1865866|SNOMEDCT_US:700453005 hp.json Congenital sensorineural hearing loss|Congenital neurosensory deafness|Congenital perceptive deafness|Congenital sensorineural deafness|Bilateral congenital sensorineural deafness|Hearing loss, congenital sensorineural http://purl.obolibrary.org/obo/HP_0008527 HP:0008523 biolink:PhenotypicFeature Posterior helix pit Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. UMLS:C4021539 hp.json Ear, posterior helical groove|Ear, posterior helical notch|Pits in posterior aspect of ear helices|Helix, posterior pit|Indentation in back of outer ear http://purl.obolibrary.org/obo/HP_0008523 hposlim_core CL:1001609 biolink:Cell muscle fibroblast Fibroblast from muscle organ. CALOHA:TS-0643 hp.json http://purl.obolibrary.org/obo/CL_1001609 HP:0033501 biolink:PhenotypicFeature Subepithelial glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. hp.json http://purl.obolibrary.org/obo/HP_0033501 HP:0033500 biolink:PhenotypicFeature Subendothelial glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. hp.json http://purl.obolibrary.org/obo/HP_0033500 CL:1001603 biolink:Cell lung macrophage Circulating macrophages and tissue macrophages (alveolar macrophages) of lung. CALOHA:TS-0576 hp.json lung macrophages http://purl.obolibrary.org/obo/CL_1001603 CL:1001602 biolink:Cell cerebral cortex endothelial cell Endothelial cells forming the walls of the capillaries within the cerebral cortex. CALOHA:TS-2372 hp.json cerebral cortex endothelial cells|endothelial cells of cerebral cortex http://purl.obolibrary.org/obo/CL_1001602 HP:0033507 biolink:PhenotypicFeature Decreased esterified to free carnitine ratio A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. hp.json http://purl.obolibrary.org/obo/HP_0033507 HP:0033506 biolink:PhenotypicFeature Increased esterified to free carnitine ratio An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. hp.json http://purl.obolibrary.org/obo/HP_0033506 HP:0033509 biolink:PhenotypicFeature EBV encephalitis Inflamation of the brain related to infection by Epstein-Barr virus. hp.json Epstein-Barr virus encephalitis http://purl.obolibrary.org/obo/HP_0033509 HP:0033508 biolink:PhenotypicFeature EBV meningitis Inflammation of the meninges related to infection by Epstein-Barr virus. hp.json Epstein-Barr virus meningitis http://purl.obolibrary.org/obo/HP_0033508 GO:1901192 biolink:BiologicalProcess positive regulation of formation of translation initiation ternary complex Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex. hp.json activation of translation initiation ternary complex assembly|up-regulation of formation of translation initiation ternary complex|up-regulation of translation initiation ternary complex assembly|up regulation of translation initiation ternary complex assembly|up regulation of formation of translation initiation ternary complex|positive regulation of translation initiation ternary complex assembly|activation of formation of translation initiation ternary complex|upregulation of formation of translation initiation ternary complex|upregulation of translation initiation ternary complex assembly http://purl.obolibrary.org/obo/GO_1901192 HP:0033503 biolink:PhenotypicFeature Elevated CSF fumarate An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid. hp.json http://purl.obolibrary.org/obo/HP_0033503 HP:0033502 biolink:PhenotypicFeature Abnormal esterified to free carnitine ratio Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. hp.json http://purl.obolibrary.org/obo/HP_0033502 GO:1901190 biolink:BiologicalProcess regulation of formation of translation initiation ternary complex Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex. hp.json regulation of translation initiation ternary complex assembly http://purl.obolibrary.org/obo/GO_1901190 HP:0033505 biolink:PhenotypicFeature Livedo reticularis Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. hp.json http://purl.obolibrary.org/obo/HP_0033505 GO:1901191 biolink:BiologicalProcess negative regulation of formation of translation initiation ternary complex Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex. hp.json down regulation of formation of translation initiation ternary complex|down regulation of translation initiation ternary complex assembly|inhibition of formation of translation initiation ternary complex|downregulation of translation initiation ternary complex assembly|downregulation of formation of translation initiation ternary complex|inhibition of translation initiation ternary complex assembly|down-regulation of formation of translation initiation ternary complex|negative regulation of translation initiation ternary complex assembly|down-regulation of translation initiation ternary complex assembly http://purl.obolibrary.org/obo/GO_1901191 HP:0033504 biolink:PhenotypicFeature Elevated circulating fumarate concentration An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033504 HP:0033510 biolink:PhenotypicFeature Cutaneous horn A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin. hp.json Cornu cutaneum http://purl.obolibrary.org/obo/HP_0033510 HP:0033512 biolink:PhenotypicFeature Stimulant addiction Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing. hp.json Stimulant dependence http://purl.obolibrary.org/obo/HP_0033512 HP:0033511 biolink:PhenotypicFeature Drug addiction Chronic compulsive drug seeking and continued use despite harmful consequences. hp.json http://purl.obolibrary.org/obo/HP_0033511 HP:0033518 biolink:PhenotypicFeature Methylphenidate addiction Addiction to methylphenidate. hp.json Methylphenidate dependence http://purl.obolibrary.org/obo/HP_0033518 HP:0008507 biolink:PhenotypicFeature Static ophthalmoparesis UMLS:C4024663 hp.json http://purl.obolibrary.org/obo/HP_0008507 HP:0033517 biolink:PhenotypicFeature Heroin addiction Addiction to heroin. hp.json Heroin dependence http://purl.obolibrary.org/obo/HP_0033517 HP:0008509 biolink:PhenotypicFeature Aged leonine appearance UMLS:C3550331 hp.json http://purl.obolibrary.org/obo/HP_0008509 HP:0033519 biolink:PhenotypicFeature Methamphetamine addiction Addiction to methamphetamine. hp.json Methamphetamine dependence http://purl.obolibrary.org/obo/HP_0033519 HP:0033514 biolink:PhenotypicFeature Amphetamine addiction Addiction to amphetamine or dextroamphetamine. hp.json Amphetamine dependence|Dextroamphetamine addiction|Dextroamphetamine dependence http://purl.obolibrary.org/obo/HP_0033514 HP:0033513 biolink:PhenotypicFeature Cocaine addiction Addiction to cocaine. hp.json Cocaine dependence http://purl.obolibrary.org/obo/HP_0033513 HP:0033516 biolink:PhenotypicFeature Benzodiazepine addiction Addiction to a benzodiazepine. hp.json Benzodiazepine dependence http://purl.obolibrary.org/obo/HP_0033516 HP:0008504 biolink:PhenotypicFeature Moderate sensorineural hearing impairment The presence of a moderate form of sensorineural hearing impairment. UMLS:C4020798|UMLS:C4024664 hp.json Moderate neural deafness http://purl.obolibrary.org/obo/HP_0008504 HP:0033515 biolink:PhenotypicFeature Opioid addiction Addiction to opioids. hp.json Opioid dependence http://purl.obolibrary.org/obo/HP_0033515 HP:0008501 biolink:PhenotypicFeature Median cleft lip and palate Cleft lip or palate affecting the midline region of the palate. UMLS:C2750604 hp.json Midline cleft lip/palate|Medial cleft lip and palate|Wide midline cleft lip/palate|Central cleft lip and palate http://purl.obolibrary.org/obo/HP_0008501 CHEBI:48379 biolink:ChemicalSubstance isourea A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives. hp.json isoureas|isoureas http://purl.obolibrary.org/obo/CHEBI_48379 3_STAR UBERON:0001749 biolink:AnatomicalEntity parenchyma of parathyroid gland A parenchyma that is part of a parathyroid gland [Automatically generated definition]. MA:0002677|FMA:55569|EMAPA:35664 hp.json parathyroid gland parenchyma|parenchyma of parathyroid|parathyroid parenchyma http://purl.obolibrary.org/obo/UBERON_0001749 UBERON:0001748 biolink:AnatomicalEntity capsule of parathyroid gland The dense and irregular connective tissue capsule surrounding a parathyroid gland. MA:0002676|NCIT:C33265|FMA:55566|EMAPA:35663|UMLS:C0927176 hp.json parathyroid gland capsule http://purl.obolibrary.org/obo/UBERON_0001748 pheno_slim CHEBI:48378 biolink:ChemicalSubstance carboximidic acid hp.json carboximidic acids|carboximidic acids|carboximidic acid http://purl.obolibrary.org/obo/CHEBI_48378 3_STAR UBERON:0001745 biolink:AnatomicalEntity secondary nodular lymphoid tissue A lymphoid follicle that contains a germinal center. GAID:946|FMA:55224 hp.json peripheral lymphoid tissue|secondary lymphoid nodule|secondary lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001745 uberon_slim UBERON:0001744 biolink:AnatomicalEntity lymphoid tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. GAID:342|NCIT:C13049|BTO:0000753|UMLS:C0024296|galen:LymphoidTissue|MESH:D008221|FMA:55220|MA:0002436|CALOHA:TS-0584 hp.json lymphocytic tissue|lymphatic tissue http://purl.obolibrary.org/obo/UBERON_0001744 pheno_slim|uberon_slim UBERON:0001747 biolink:AnatomicalEntity parenchyma of thyroid gland A parenchyma that is part of a thyroid follicle [Automatically generated definition]. MA:0000730|EMAPA:37769|FMA:55515|BTO:0004579 hp.json thyroid follicle parenchyma|thyroid gland parenchyma|parenchyma glandulae thyroideae|parenchyma of thyroid|parenchyma of thyroid follicle|parenchyma of thyroid gland follicle|thyroid parenchyma|thyroid gland follicle parenchyma http://purl.obolibrary.org/obo/UBERON_0001747 UBERON:0001746 biolink:AnatomicalEntity capsule of thyroid gland MA:0002675|EMAPA:37767|UMLS:C0229575|FMA:55513|NCIT:C33781 hp.json capsula fibrosa glandulae thyroideae|thyroid capsule|fibrous capsule of thyroid gland|thyroid gland capsule http://purl.obolibrary.org/obo/UBERON_0001746 CHEBI:48377 biolink:ChemicalSubstance imidic acid Compounds derived from oxoacids RkE(=O)l(OH)m (l =/= 0) by replacing =O by =NR; thus tautomers of amides. In organic chemistry an unspecified imidic acid is generally a carboximidic acid, RC(=NR)(OH). hp.json imino acids|imidic acid|imidic acids|imidic acids http://purl.obolibrary.org/obo/CHEBI_48377 3_STAR CHEBI:48376 biolink:ChemicalSubstance carbamimidic acid Beilstein:773698|CAS:4744-36-9 hp.json carbamimidic acid|pseudourea|carbamimic acid|HO-C(=NH)-NH2|H2N-C(=NH)-OH|H2N-C(OH)=NH|Isoharnstoff|isourea|carbonamidimidic acid http://purl.obolibrary.org/obo/CHEBI_48376 3_STAR UBERON:0013727 biolink:AnatomicalEntity notochordal fluid Fluid contained within the notochordal canal. hp.json notochord fluid|portion of notochordal fluid http://purl.obolibrary.org/obo/UBERON_0013727 HP:0008559 biolink:PhenotypicFeature Hypoplastic superior helix UMLS:C1865305 hp.json Underdeveloped superior helices http://purl.obolibrary.org/obo/HP_0008559 UBERON:0001752 biolink:AnatomicalEntity enamel A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]. BTO:0001844|MESH:D003743|XAO:0004198|UMLS:C0011350|EMAPA:35303|NCIT:C32505|VSAO:0000065|CALOHA:TS-1057|FMA:55629|MA:0002543 hp.json enameloid|enamel tissue|tooth enamel|enamel of tooth http://purl.obolibrary.org/obo/UBERON_0001752 pheno_slim|uberon_slim|vertebrate_core HP:0008554 biolink:PhenotypicFeature Cochlear malformation The presence of a malformed cochlea. UMLS:C1862050 hp.json http://purl.obolibrary.org/obo/HP_0008554 UBERON:0001751 biolink:AnatomicalEntity dentine Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. NCIT:C32453|EMAPA:35281|ZFA:0005143|VHOG:0001589|VSAO:0000069|XAO:0004051|TAO:0005143|UMLS:C0011429|BTO:0003453|GAID:1272|MESH:D003804|FMA:55628|MA:0002542 hp.json predentin|dentin|dentine of tooth|dentin http://purl.obolibrary.org/obo/UBERON_0001751 pheno_slim|uberon_slim|vertebrate_core UBERON:0001754 biolink:AnatomicalEntity dental pulp The part in the center of a tooth made up of living soft tissue and cells called odontoblasts[WP]. CALOHA:TS-0195|UMLS:C0011399|NCIT:C32451|VHOG:0001469|MESH:D003782|FMA:55631|ZFA:0005141|TAO:0005141|GAID:1270|MA:0001599|EMAPA:35274|BTO:0000339 hp.json dental pulp cell|pulp of tooth|tooth pulp http://purl.obolibrary.org/obo/UBERON_0001754 pheno_slim|uberon_slim|vertebrate_core HP:0008555 biolink:PhenotypicFeature Absent vestibular function Complete lack of functioning of the vestibular apparatus. UMLS:C4024656 hp.json http://purl.obolibrary.org/obo/HP_0008555 UBERON:0001753 biolink:AnatomicalEntity cementum Odontoid tissue that is deposited by cementoblasts onto dentine tissue and functions to attach teeth, odontodes and other odontogenic derivatives to bone tissue and the integument. MA:0002541|CALOHA:TS-2163|BTO:0002525|NCIT:C32276|XAO:0004196|FMA:55630|EMAPA:35203|MESH:D003739|UMLS:C0011343|VSAO:0000062 hp.json cementum|cementum of tooth|bone of attachment|cement of tooth|cement http://purl.obolibrary.org/obo/UBERON_0001753 pheno_slim UBERON:0001750 biolink:AnatomicalEntity lacrimal apparatus A network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta. UMLS:C0022903|MA:0000274|NCIT:C32905|MESH:D007765|GAID:901|EMAPA:35462|FMA:55605 hp.json nasolacrimal system|apparatus lacrimalis|lacrymal system|lacrimal drainage system|nasolacrimal drainage system http://purl.obolibrary.org/obo/UBERON_0001750 pheno_slim|uberon_slim HP:0008551 biolink:PhenotypicFeature Microtia Underdevelopment of the external ear. UMLS:C0152423|SNOMEDCT_US:35045004|MSH:D065817 hp.json Hypoplastic pinna|Bilateral microtia|Small pinnae|Hypoplasia of the external ear|Underdeveloped ears|Hypoplastic ears|Small ears http://purl.obolibrary.org/obo/HP_0008551 hposlim_core UBERON:0001738 biolink:AnatomicalEntity thyroid cartilage The largest of the laryngeal cartilages. VHOG:0001365|MESH:D013957|FMA:55099|EHDAA:9395|EMAPA:18698|MA:0001764|GAID:112|UMLS:C0040126|BTO:0003655|NCIT:C33780|EHDAA2:0002030 hp.json laryngeal prominence|pomus adamus|cartilago thyroidea|pomus|cartilago thyroidea http://purl.obolibrary.org/obo/UBERON_0001738 uberon_slim|pheno_slim UBERON:0001737 biolink:AnatomicalEntity larynx A continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration. EFO:0000838|MA:0000414|SCTID:181212004|EHDAA2:0004063|UMLS:C0023078|FMA:55097|EMAPA:18333|BTO:0001208|EV:0100039|Wikipedia:Larynx|AAO:0000268|NCIT:C12420|MAT:0000187|galen:Larynx|MESH:D007830|GAID:108|OpenCyc:Mx4rvViOnZwpEbGdrcN5Y29ycA|VHOG:0001279|MIAA:0000187|CALOHA:TS-0532|XAO:0003081 hp.json http://purl.obolibrary.org/obo/UBERON_0001737 uberon_slim|pheno_slim|efo_slim UBERON:0001739 biolink:AnatomicalEntity laryngeal cartilage The cartilaginous structures that support the larynx. NCIT:C12281|BTO:0003660|VHOG:0001550|UMLS:C0023050|MESH:D007817|EMAPA:18697|SCTID:263482005|FMA:55108|EHDAA:8157|GAID:107|MA:0001758 hp.json cartilagines laryngeales|larynx cartilage|cartilage of larynx http://purl.obolibrary.org/obo/UBERON_0001739 pheno_slim UBERON:0001734 biolink:AnatomicalEntity palatine uvula Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers. BTO:0002204|NCIT:C12232|EFO:0001386|MESH:D014609|GAID:1285|UMLS:C0042173|FMA:55022 hp.json uvula palatina|palatine uvula|uvula palatina|uvula|uvula of palate http://purl.obolibrary.org/obo/UBERON_0001734 pheno_slim|efo_slim|uberon_slim UBERON:0001733 biolink:AnatomicalEntity soft palate The muscular, non-bony arch-shaped posterior portion of the palate extending from the posterior edge of the hard palate. FMA:55021|UMLS:C0030219|MA:0002412|MAT:0000039|MIAA:0000039|EMAPA:18949|BTO:0005405|NCIT:C12231|MESH:D010160|GAID:1284 hp.json velum palatinum|muscular palate|palatum molle|velum http://purl.obolibrary.org/obo/UBERON_0001733 pheno_slim|uberon_slim UBERON:0001736 biolink:AnatomicalEntity submandibular gland Either of the paired compound tubuloalveolar (aka tubuloacinar) major salivary glands composed of both serous and mucous secretory cells and situated beneath the mandible. UMLS:C0038556|MA:0001589|FMA:55093|BTO:0001316|NCIT:C12233|CALOHA:TS-0988|MESH:D013363|EFO:0001387|EMAPA:18812|GAID:942|EV:0100061|VHOG:0000364 hp.json mandibular salivary gland|maxillary gland|submaxillary gland|mandibular gland|glandula submandibularis|submandibular salivary gland http://purl.obolibrary.org/obo/UBERON_0001736 uberon_slim|pheno_slim|efo_slim UBERON:0001735 biolink:AnatomicalEntity tonsillar ring The circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils. MA:0000752|UMLS:C0459892|FMA:55070|NCIT:C73468 hp.json Waldeyer's ring|Waldeyer's tonsillar ring|oropharyngeal lymphoid tissue|anulus lymphoideus pharyngis|pharyngeal lymphoid ring|pharyngeal lymphatic ring http://purl.obolibrary.org/obo/UBERON_0001735 pheno_slim|uberon_slim CHEBI:48360 biolink:ChemicalSubstance amphiprotic solvent Self-ionizing solvent possessing both characteristics of Bronsted acids and bases. hp.json amphiprotic solvent http://purl.obolibrary.org/obo/CHEBI_48360 3_STAR UBERON:0013720 biolink:AnatomicalEntity dartos muscle of labia majora A dartos muscle that is part of a female reproductive system. hp.json dartos muliebris|dartos layer of labia http://purl.obolibrary.org/obo/UBERON_0013720 UBERON:0013721 biolink:AnatomicalEntity deep inguinal ring The entrance to the inguinal canal. FMA:19927|NCIT:C32832 hp.json internal inguinal ring|internal ring|annulus inguinalis profundus|internal abdominal ring|abdominal inguinal ring http://purl.obolibrary.org/obo/UBERON_0013721 UBERON:0013718 biolink:AnatomicalEntity dartos muscle The dartos fascia is a fat-free layer of smooth muscular fiber outside the external spermatic fascia but below the skin. It is a continuation of Scarpa's Fascia which is a membranous layer of the subcutaneous tissue in the abdominal wall. FMA:18088 hp.json tunica dartos|dartos muscle|dartos tunic http://purl.obolibrary.org/obo/UBERON_0013718 UBERON:0013719 biolink:AnatomicalEntity dartos muscle of scrotum A dartos muscle that is part of a male reproductive system. FMA:27647 hp.json dartos layer of scrotum|dartos tunic http://purl.obolibrary.org/obo/UBERON_0013719 HP:0008569 biolink:PhenotypicFeature Microtia, second degree Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. UMLS:C4020797|UMLS:C4020796|UMLS:C4020795|UMLS:C4020794|UMLS:C4020793|UMLS:C4020694|UMLS:C4020792 hp.json Cockleshell ear|Shell ear|Constricted helix type IV|Severe cupped ear, type III|Ear, grade II dysplasia|Snail ear|Mini ear http://purl.obolibrary.org/obo/HP_0008569 HP:0008568 biolink:PhenotypicFeature Vestibular areflexia Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. SNOMEDCT_US:22443004|UMLS:C4015052|UMLS:C0235927 hp.json Vestibular ataxia http://purl.obolibrary.org/obo/HP_0008568 UBERON:0001740 biolink:AnatomicalEntity arytenoid cartilage The paired triangular laryngeal cartilages located postlaterally at the level of the thyroid cartilage. EMAPA:18695|FMA:55109|AAO:0000674|GAID:109|MA:0001759|EMAPA:17977|MESH:D001193|UMLS:C0003943|NCIT:C32148 hp.json arytenoid|arytenoids|cartilago arytaenoidea|cartilagines arytenoidea|cartilago arytenoidea http://purl.obolibrary.org/obo/UBERON_0001740 pheno_slim|uberon_slim UBERON:0001743 biolink:AnatomicalEntity ligament of larynx A ligament that is part of a larynx and connexts the cartilages of the larynx. EMAPA:37626|UMLS:C0458519|NCIT:C32933|MA:0001755|FMA:55131 hp.json laryngeal ligament|larynx ligament http://purl.obolibrary.org/obo/UBERON_0001743 UBERON:0001742 biolink:AnatomicalEntity epiglottic cartilage The most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing. EMAPA:37522|UMLS:C0458526|FMA:55112|NCIT:C32526|MA:0001763 hp.json http://purl.obolibrary.org/obo/UBERON_0001742 uberon_slim UBERON:0001727 biolink:AnatomicalEntity taste bud A specialized receptor organ that is a collection of cells spanning the gustatory epithelium. EMAPA:35850|CALOHA:TS-1015|XAO:0000445|OpenCyc:Mx4rvVjan5wpEbGdrcN5Y29ycA|UMLS:C0039337|VHOG:0000130|BTO:0000989|BIRNLEX:4101|FMA:54825|SCTID:362099006|http://uri.neuinfo.org/nif/nifstd/nifext_14|GAID:815|ZFA:0001074|AAO:0010573|MESH:D013650|MA:0001591|NCIT:C96518|Wikipedia:Taste_bud|UMLS:C0039337|TAO:0001074 hp.json taste-bud|caliculus gustatorius|caliculus gustatorius|tastebud|caliculus gustatorius|taste buds|taste buds|caliculus gustatorius|taste-bud|tastebuds|tastebuds|tastebud http://purl.obolibrary.org/obo/UBERON_0001727 uberon_slim|vertebrate_core|pheno_slim CHEBI:48356 biolink:ChemicalSubstance protic solvent A polar solvent that is capable of acting as a hydron (proton) donor. hp.json protogenic solvent http://purl.obolibrary.org/obo/CHEBI_48356 3_STAR UBERON:0001726 biolink:AnatomicalEntity papilla of tongue FMA:54819|BIRNLEX:4102|NCIT:C33258|UMLS:C0226964|UMLS:C0226964|EMAPA:32777|MA:0001593|UMLS:C1289183|SCTID:368728006 hp.json lingual papilla|tongue papilla http://purl.obolibrary.org/obo/UBERON_0001726 pheno_slim CHEBI:48359 biolink:ChemicalSubstance protophilic solvent Solvent that is capable of acting as a hydron (proton) acceptor. hp.json hydrogen bond acceptor solvent|HBA solvent|protophilic solvent http://purl.obolibrary.org/obo/CHEBI_48359 3_STAR UBERON:0001728 biolink:AnatomicalEntity nasopharynx The section of the pharynx that lies above the soft palate. CALOHA:TS-0663|VHOG:0000375|EHDAA:7086|UMLS:C0027442|EHDAA2:0001239|MA:0000443|MAT:0000447|NCIT:C12423|FMA:54878|EMAPA:17670|MESH:D009305|EV:0100066|OpenCyc:Mx4rwUPoDJwpEbGdrcN5Y29ycA|BTO:0000662|GAID:339 hp.json pars nasalis pharyngis|nasal part of pharynx|epipharynx|rhinopharynx|Nasenrachenraum http://purl.obolibrary.org/obo/UBERON_0001728 uberon_slim|pheno_slim UBERON:0001723 biolink:AnatomicalEntity tongue A muscular organ in the floor of the mouth. EHDAA2:0002062|EHDAA:9144|SCTID:181226008|UMLS:C0040408|MA:0000347|MIAA:0000040|EFO:0000833|VHOG:0000419|NCIT:C12422|ZFA:0005333|EV:0100058|CALOHA:TS-1050|GAID:816|EMAPA:17185|OpenCyc:Mx4rvVjmJ5wpEbGdrcN5Y29ycA_53KXLq9EdqAAAACs6hnmQ|MESH:D014059|Wikipedia:Tongue|TAO:0005333|FMA:54640|AAO:0010360|BTO:0001385|XAO:0000446|MAT:0000040 hp.json glossus|glossus http://purl.obolibrary.org/obo/UBERON_0001723 uberon_slim|vertebrate_core|organ_slim|pheno_slim|efo_slim OBO:uberon/core#distally_connected_to biolink:NamedThing distally connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. hp.json http://purl.obolibrary.org/obo/uberon/core#distally_connected_to UBERON:0001725 biolink:AnatomicalEntity cranial synchondrosis The cartilaginous joints of the skull; these include sphenoethmoidal synchondrosis, sphenooccipital synchondrosis, sphenopetrosal synchondrosis, petrooccipital synchondrosis, anterior intraoccipital synchondrosis and posterior intraoccipital synchondrosis. MA:0001502|FMA:54816|EMAPA:35264 hp.json http://purl.obolibrary.org/obo/UBERON_0001725 UBERON:0001724 biolink:AnatomicalEntity sphenoidal sinus One of the paired paranasal sinuses, located in the body of the sphenoid bone and communicating with the highest meatus of the nasal cavity on the same side[MESH]. The sphenoidal sinuses (or sphenoid) contained within the body of the sphenoid vary in size and shape; owing to the lateral displacement of the intervening septum they are rarely symmetrical. The following are their average measurements: vertical height, 2.2 cm. ; transverse breadth, 2 cm. ; antero-posterior depth, 2.2 cm. [WP,unvetted]. OpenCyc:Mx4rwEIoz5wpEbGdrcN5Y29ycA|MA:0001795|NCIT:C12278|UMLS:C0037885|MESH:D013101|GAID:359|FMA:54683 hp.json sphenoid sinus|sinus sphenoidalis http://purl.obolibrary.org/obo/UBERON_0001724 uberon_slim|pheno_slim CHEBI:24384 biolink:ChemicalSubstance glycogens hp.json http://purl.obolibrary.org/obo/CHEBI_24384 3_STAR CHEBI:48355 biolink:ChemicalSubstance non-polar solvent hp.json http://purl.obolibrary.org/obo/CHEBI_48355 1_STAR CHEBI:48354 biolink:ChemicalSubstance polar solvent A solvent that is composed of polar molecules. Polar solvents can dissolve ionic compounds or ionisable covalent compounds. hp.json polar solvents|polar solvent http://purl.obolibrary.org/obo/CHEBI_48354 3_STAR UBERON:0013705 biolink:AnatomicalEntity fascia of Scarpa The deep layer (fascia of Scarpa) is a layer of the anterior abdominal wall. FMA:19923 hp.json Colles fascia|Scarpa's fascia|fascia of Scarpa|stratum membranosum telae subcutaneae abdominis|Scarpa's fascia|membranous layer of subcutaneous tissue of abdomen|membranous layer of superficial fascia of abdomen|deep layer of superficial fascia of abdomen|Colles' fascia http://purl.obolibrary.org/obo/UBERON_0013705 UBERON:0013701 biolink:AnatomicalEntity main body axis A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. hp.json http://purl.obolibrary.org/obo/UBERON_0013701 non_informative UBERON:0013702 biolink:AnatomicalEntity body proper The region of the organism associated with the visceral organs. EMAPA:36031|BTO:0001489|FMA:231424|AEO:0000103 hp.json whole body|body http://purl.obolibrary.org/obo/UBERON_0013702 non_informative UBERON:0013703 biolink:AnatomicalEntity integumentary projection Anatomical projection that is part of the integumentl system. hp.json skin projection http://purl.obolibrary.org/obo/UBERON_0013703 UBERON:0013704 biolink:AnatomicalEntity notochordal canal A tubular passage that extends from the primitive pit into the head process during the early stages of embryonic development in mammals. It perforates the splanchnopleure layer so that the yolk sac and the amnion are connected temporarily. FMA:293127|UMLS:C1518428|NCIT:C34230 hp.json chordal canal http://purl.obolibrary.org/obo/UBERON_0013704 HP:0008537 biolink:PhenotypicFeature Cleft at the superior portion of the pinna UMLS:C1865302 hp.json Cleft at the superior portion of the ear http://purl.obolibrary.org/obo/HP_0008537 CHEBI:36360 biolink:ChemicalSubstance phosphorus oxoacids and derivatives hp.json http://purl.obolibrary.org/obo/CHEBI_36360 1_STAR UBERON:0001730 biolink:AnatomicalEntity extrinsic ligament of larynx EMAPA:37627|FMA:54921|MA:0001756 hp.json laryngeal extrinsic ligament http://purl.obolibrary.org/obo/UBERON_0001730 UBERON:0001732 biolink:AnatomicalEntity pharyngeal tonsil The lymph tissue in the roof and posterior wall of the nasopharynx. MA:0000774|BTO:0000777|UMLS:C0001428|MESH:D000234|GAID:1288|EV:0100054|FMA:54970|NCIT:C33318 hp.json adenoid|tonsilla pharyngealis|nasopharyngeal tonsil|tonsil of Luschka|tonsilla pharyngea|Rachenmandel http://purl.obolibrary.org/obo/UBERON_0001732 pheno_slim|uberon_slim UBERON:0001731 biolink:AnatomicalEntity cavity of pharynx An anatomical space that is enclosed by a pharynx. SCTID:180543003|AAO:0010435|FMA:54935|BSA:0000113|EMAPA:18381|XAO:0000105|BTO:0002097 hp.json pharyngeal cavity|cavitas pharyngealis|cavitas pharyngis|lumen of pharynx http://purl.obolibrary.org/obo/UBERON_0001731 UBERON:0001716 biolink:AnatomicalEntity secondary palate The part of the palate formed from the fusion of the two palatine shelves, extensions of the maxillary prominences. NCIT:C34292|UMLS:C1519217|NCIT:C12229|MESH:D010159|MA:0002476|BTO:0001779|FMA:54549|GAID:152|UMLS:C0700374|EMAPA:18948|galen:Palate hp.json roof of mouth|palatum|definitive palate|palatum definitivum|palatum|palatum secundarium|palate|oral roof http://purl.obolibrary.org/obo/UBERON_0001716 uberon_slim|pheno_slim UBERON:0001715 biolink:AnatomicalEntity oculomotor nuclear complex Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=492|BAMS:III|VHOG:0001389|EV:0100250|MBA:35|BM:MB-III|BAMS:3|ZFA:0000553|NCIT:C12897|UMLS:C0228686|XAO:0004389|BIRNLEX:1240|TAO:0000553|UMLS:C0228686|EMAPA:35605|DHBA:12198|EFO:0002468|HBA:9030|MA:0001073|EHDAA2:0004211|MESH:D065838|FMA:54510 hp.json nucleus nervi oculomotorii|nucleus of oculomotor nerve|OM|nucleus nervi oculomotorii|nucleus oculomotorius|oculomotor nucleus|oculomotor III nuclear complex|oculomotor motornucleus|motor nucleus III|nucleus of third cranial nerve|oculomotor III nucleus|third cranial nerve nucleus|nucleus of oculomotor nuclear complex|nIII http://purl.obolibrary.org/obo/UBERON_0001715 uberon_slim|vertebrate_core|pheno_slim|efo_slim GO:0097386 biolink:CellularComponent glial cell projection A prolongation or process extending from a glial cell. hp.json glial projection|glial process http://purl.obolibrary.org/obo/GO_0097386 UBERON:0001712 biolink:AnatomicalEntity upper eyelid OpenCyc:Mx4rvg4ohJwpEbGdrcN5Y29ycA|NCIT:C49581|MA:0001267|FMA:54439|EHDAA2:0002115|UMLS:C0585636|VHOG:0000389|EHDAA:9047|EMAPA:17834 hp.json palpebra superior|superior eyelid http://purl.obolibrary.org/obo/UBERON_0001712 uberon_slim|pheno_slim UBERON:0001711 biolink:AnatomicalEntity eyelid A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane. MESH:D005143|GAID:72|BTO:0002241|NCIT:C12713|EV:0100338|MA:0000268|EHDAA2:0000487|EMAPA:17829|FMA:54437|OpenCyc:Mx4rvVi4m5wpEbGdrcN5Y29ycA|VHOG:0000016|EHDAA:9037|UMLS:C0015426 hp.json blepharon|palpebra|blephara|eye lid|palpebrae http://purl.obolibrary.org/obo/UBERON_0001711 uberon_slim|pheno_slim UBERON:0001714 biolink:AnatomicalEntity cranial ganglion The groups of nerve cell bodies associated with the twelve cranial nerves. XAO:0000027|SCTID:244448001|BIRNLEX:2597|VHOG:0000076|EFO:0000902|MA:0000214|MA:0000213|Wikipedia:Cranial_nerve_ganglion|ZFA:0000013|TAO:0000013|BTO:0000106|MAT:0000200|FMA:54502|EMAPA:16659|MIAA:0000200 hp.json cranial ganglia|ganglion of cranial nerve|cranial ganglion/nerve|ganglion of cranial neural tree organ|cranial ganglion part of peripheral nervous system|cranial nerve ganglion|head ganglion|cranial neural ganglion|cranial ganglion|cranial neural tree organ ganglion|presumptive cranial ganglia http://purl.obolibrary.org/obo/UBERON_0001714 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0001713 biolink:AnatomicalEntity lower eyelid VHOG:0000388|FMA:54442|XAO:0000007|EMAPA:17831|NCIT:C49580|AAO:0010349|EHDAA:9041|UMLS:C0229258|EHDAA2:0001015|OpenCyc:Mx4rvW6GtJwpEbGdrcN5Y29ycA|MA:0001263 hp.json palpebra inferior|inferior eyelid http://purl.obolibrary.org/obo/UBERON_0001713 uberon_slim|pheno_slim UBERON:0013700 biolink:AnatomicalEntity axial musculature Musculature of the head and neck, spine, and ribs. EHDAA2:0000159|EMAPA:18166 hp.json http://purl.obolibrary.org/obo/UBERON_0013700 CHEBI:24396 biolink:ChemicalSubstance glycopeptide Any carbohydrate derivative that consists of glycan moieties covalently attached to the side chains of the amino acid residues that constitute the peptide. hp.json glycopeptides http://purl.obolibrary.org/obo/CHEBI_24396 3_STAR CHEBI:48343 biolink:ChemicalSubstance disulfide Compounds of structure RSSR'. hp.json disulfides http://purl.obolibrary.org/obo/CHEBI_48343 3_STAR HP:0008542 biolink:PhenotypicFeature Low-frequency hearing loss A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz). SNOMEDCT_US:42538001|UMLS:C0271514 hp.json Low-frequency hearing loss http://purl.obolibrary.org/obo/HP_0008542 UBERON:0001720 biolink:AnatomicalEntity cochlear nucleus Any of the nuclei of the cochlear nuclear complex. MESH:D017626|MA:0001012|FMA:54603|TAO:0002243|ZFA:0001638|EMAPA:35248|NCIT:C12837|GAID:601 hp.json nucleus of cochlear nerve|vestibulocochlear nucleus|cochlear nucleus of acoustic nerve|statoacoustic (VIII) nucleus|cochlear VIII nucleus|cochlear nucleus of eighth cranial nerve http://purl.obolibrary.org/obo/UBERON_0001720 vertebrate_core|pheno_slim|uberon_slim HP:0008544 biolink:PhenotypicFeature Abnormally folded helix Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape. UMLS:C1970777 hp.json http://purl.obolibrary.org/obo/HP_0008544 HP:0008541 biolink:PhenotypicFeature Superiorly displaced ears UMLS:C1850190 hp.json High set ears http://purl.obolibrary.org/obo/HP_0008541 GO:0048341 biolink:BiologicalProcess paraxial mesoderm formation The process that gives rise to the paraxial mesoderm. This process pertains to the initial formation of the structure from unspecified parts. hp.json http://purl.obolibrary.org/obo/GO_0048341 GO:0048340 biolink:BiologicalProcess paraxial mesoderm morphogenesis The process in which the anatomical structures of the paraxial mesoderm are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0048340 GO:2000106 biolink:BiologicalProcess regulation of leukocyte apoptotic process Any process that modulates the frequency, rate or extent of leukocyte apoptotic process. hp.json regulation of leukocyte apoptosis http://purl.obolibrary.org/obo/GO_2000106 GO:2000107 biolink:BiologicalProcess negative regulation of leukocyte apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of leukocyte apoptotic process. hp.json negative regulation of leukocyte apoptosis http://purl.obolibrary.org/obo/GO_2000107 GO:2000108 biolink:BiologicalProcess positive regulation of leukocyte apoptotic process Any process that activates or increases the frequency, rate or extent of leukocyte apoptotic process. hp.json positive regulation of leukocyte apoptosis http://purl.obolibrary.org/obo/GO_2000108 GO:2000109 biolink:BiologicalProcess regulation of macrophage apoptotic process Any process that modulates the frequency, rate or extent of macrophage apoptotic process. hp.json regulation of activation-induced cell death|regulation of AICD|regulation of macrophage apoptosis http://purl.obolibrary.org/obo/GO_2000109 GO:0061323 biolink:BiologicalProcess cell proliferation involved in heart morphogenesis The multiplication or reproduction of cells, resulting in the expansion of a cell population that contributes to the shaping of the heart. hp.json http://purl.obolibrary.org/obo/GO_0061323 GO:0061325 biolink:BiologicalProcess cell proliferation involved in outflow tract morphogenesis The multiplication or reproduction of cells, resulting in the expansion of a cell population that contributes to the shaping of the outflow tract. hp.json http://purl.obolibrary.org/obo/GO_0061325 OBO:uberon/core#channel_for biolink:NamedThing channel for hp.json carries http://purl.obolibrary.org/obo/uberon/core#channel_for GO:0061311 biolink:BiologicalProcess cell surface receptor signaling pathway involved in heart development The series of molecular signals initiated by a ligand the binding to its receptor on the surface of a cell, which contributes to the progression of the heart over time. hp.json cell surface receptor linked signaling pathway involved in heart development|cell surface receptor linked signalling pathway involved in heart development http://purl.obolibrary.org/obo/GO_0061311 GO:2000110 biolink:BiologicalProcess negative regulation of macrophage apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage apoptotic process. hp.json negative regulation of AICD|negative regulation of activation-induced cell death|negative regulation of macrophage apoptosis http://purl.obolibrary.org/obo/GO_2000110 GO:2000111 biolink:BiologicalProcess positive regulation of macrophage apoptotic process Any process that activates or increases the frequency, rate or extent of macrophage apoptotic process. hp.json positive regulation of macrophage apoptosis|positive regulation of activation-induced cell death|positive regulation of AICD http://purl.obolibrary.org/obo/GO_2000111 GO:2000112 biolink:BiologicalProcess regulation of cellular macromolecule biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. hp.json regulation of cellular macromolecule anabolism|regulation of cellular biopolymer biosynthetic process|regulation of cellular macromolecule synthesis|regulation of cellular macromolecule formation|regulation of cellular macromolecule biosynthesis http://purl.obolibrary.org/obo/GO_2000112 GO:2000113 biolink:BiologicalProcess negative regulation of cellular macromolecule biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of cellular macromolecule biosynthetic process. hp.json negative regulation of cellular macromolecule biosynthesis|negative regulation of cellular macromolecule anabolism|negative regulation of cellular biopolymer biosynthetic process|negative regulation of cellular macromolecule synthesis|negative regulation of cellular macromolecule formation http://purl.obolibrary.org/obo/GO_2000113 GO:2000114 biolink:BiologicalProcess regulation of establishment of cell polarity Any process that modulates the frequency, rate or extent of establishment of cell polarity. hp.json regulation of bud site selection/establishment of cell polarity|regulation of cell polarization http://purl.obolibrary.org/obo/GO_2000114 GO:1903768 biolink:CellularComponent taste receptor complex A protein complex which is capable of taste receptor activity. hp.json http://purl.obolibrary.org/obo/GO_1903768 GO:0048369 biolink:BiologicalProcess lateral mesoderm morphogenesis The process in which the anatomical structures of the lateral mesoderm are generated and organized. hp.json lateral plate mesoderm morphogenesis http://purl.obolibrary.org/obo/GO_0048369 GO:0048368 biolink:BiologicalProcess lateral mesoderm development The process whose specific outcome is the progression of the lateral mesoderm over time, from its formation to the mature structure. hp.json lateral plate mesoderm development http://purl.obolibrary.org/obo/GO_0048368 GO:1903771 biolink:BiologicalProcess positive regulation of beta-galactosidase activity Any process that activates or increases the frequency, rate or extent of beta-galactosidase activity. hp.json activation of beta-galactosidase activity|upregulation of lactose hydrolysis|up regulation of oryzatym|up regulation of maxilact|upregulation of lactozym|activation of S 2107|activation of beta-D-lactosidase activity|positive regulation of beta-D-lactosidase activity|activation of sumiklat|up-regulation of beta-D-galactoside galactohydrolase activity|positive regulation of exo-(1->4)-beta-D-galactanase activity|up-regulation of hydrolact|upregulation of S 2107|activation of beta-D-galactoside galactohydrolase activity|upregulation of sumiklat|up-regulation of oryzatym|up-regulation of maxilact|positive regulation of lactozym|up regulation of exo-(1->4)-beta-D-galactanase activity|positive regulation of lactose hydrolysis|upregulation of beta-galactosidase activity|up-regulation of beta-D-galactanase activity|upregulation of beta-D-lactosidase activity|up regulation of hydrolact|up-regulation of beta-lactosidase activity|up regulation of lactozym|positive regulation of S 2107|up-regulation of trilactase activity|up regulation of lactose hydrolysis|up regulation of beta-D-galactanase activity|positive regulation of hydrolact|positive regulation of sumiklat|up-regulation of exo-(1->4)-beta-D-galactanase activity|up regulation of beta-lactosidase activity|up regulation of S 2107|activation of exo-(1->4)-beta-D-galactanase activity|up regulation of trilactase activity|upregulation of beta-D-galactoside galactohydrolase activity|activation of beta-D-galactanase activity|up-regulation of lactozym|up-regulation of lactose hydrolysis|activation of oryzatym|up regulation of sumiklat|positive regulation of beta-D-galactanase activity|activation of maxilact|upregulation of oryzatym|activation of beta-lactosidase activity|positive regulation of beta-lactosidase activity|upregulation of maxilact|positive regulation of trilactase activity|up-regulation of S 2107|upregulation of hydrolact|up-regulation of beta-galactosidase activity|activation of trilactase activity|up-regulation of beta-D-lactosidase activity|up-regulation of sumiklat|activation of hydrolact|upregulation of beta-D-galactanase activity|positive regulation of beta-D-galactoside galactohydrolase activity|positive regulation of maxilact|up regulation of beta-galactosidase activity|upregulation of beta-lactosidase activity|positive regulation of oryzatym|upregulation of exo-(1->4)-beta-D-galactanase activity|up regulation of beta-D-lactosidase activity|activation of lactose hydrolysis|activation of lactozym|up regulation of beta-D-galactoside galactohydrolase activity|upregulation of trilactase activity http://purl.obolibrary.org/obo/GO_1903771 GO:0061343 biolink:BiologicalProcess cell adhesion involved in heart morphogenesis The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules that contributes to the shaping of the heart. hp.json http://purl.obolibrary.org/obo/GO_0061343 GO:0061344 biolink:BiologicalProcess regulation of cell adhesion involved in heart morphogenesis Any process that modulates the extent of cell adhesion contributing to the shaping of the heart. hp.json http://purl.obolibrary.org/obo/GO_0061344 GO:1903770 biolink:BiologicalProcess negative regulation of beta-galactosidase activity Any process that stops, prevents or reduces the frequency, rate or extent of beta-galactosidase activity. hp.json down regulation of beta-lactosidase activity|downregulation of beta-D-galactoside galactohydrolase activity|down regulation of trilactase activity|downregulation of hydrolact|down-regulation of S 2107|negative regulation of S 2107|downregulation of maxilact|negative regulation of sumiklat|down-regulation of sumiklat|downregulation of oryzatym|downregulation of beta-D-galactanase activity|inhibition of beta-D-galactanase activity|inhibition of lactozym|inhibition of lactose hydrolysis|down-regulation of beta-galactosidase activity|negative regulation of beta-D-lactosidase activity|downregulation of beta-lactosidase activity|inhibition of beta-lactosidase activity|down-regulation of beta-D-lactosidase activity|inhibition of S 2107|inhibition of trilactase activity|downregulation of trilactase activity|down regulation of beta-D-galactoside galactohydrolase activity|inhibition of sumiklat|downregulation of exo-(1->4)-beta-D-galactanase activity|down regulation of maxilact|down regulation of beta-galactosidase activity|inhibition of hydrolact|down regulation of oryzatym|down regulation of beta-D-lactosidase activity|inhibition of beta-D-galactoside galactohydrolase activity|negative regulation of beta-D-galactoside galactohydrolase activity|downregulation of lactozym|downregulation of lactose hydrolysis|down-regulation of beta-D-galactoside galactohydrolase activity|negative regulation of maxilact|down-regulation of maxilact|down-regulation of oryzatym|negative regulation of oryzatym|downregulation of beta-galactosidase activity|down-regulation of hydrolact|inhibition of beta-galactosidase activity|downregulation of S 2107|negative regulation of hydrolact|down regulation of exo-(1->4)-beta-D-galactanase activity|downregulation of beta-D-lactosidase activity|inhibition of beta-D-lactosidase activity|downregulation of sumiklat|down regulation of lactose hydrolysis|negative regulation of beta-D-galactanase activity|inhibition of exo-(1->4)-beta-D-galactanase activity|down regulation of lactozym|down-regulation of beta-D-galactanase activity|down-regulation of beta-lactosidase activity|negative regulation of exo-(1->4)-beta-D-galactanase activity|down regulation of hydrolact|down-regulation of exo-(1->4)-beta-D-galactanase activity|inhibition of oryzatym|inhibition of maxilact|negative regulation of beta-lactosidase activity|negative regulation of trilactase activity|down-regulation of trilactase activity|down regulation of S 2107|down-regulation of lactose hydrolysis|negative regulation of lactozym|down-regulation of lactozym|down regulation of beta-D-galactanase activity|negative regulation of lactose hydrolysis|down regulation of sumiklat http://purl.obolibrary.org/obo/GO_1903770 GO:0036334 biolink:BiologicalProcess epidermal stem cell homeostasis Any biological process involved in the maintenance of the steady-state number of epidermal stem cells within a population of cells. hp.json http://purl.obolibrary.org/obo/GO_0036334 GO:0036336 biolink:BiologicalProcess dendritic cell migration The movement of a dendritic cell within or between different tissues and organs of the body. hp.json http://purl.obolibrary.org/obo/GO_0036336 GO:0048370 biolink:BiologicalProcess lateral mesoderm formation The process that gives rise to the lateral mesoderm. This process pertains to the initial formation of the structure from unspecified parts. hp.json lateral plate mesoderm biosynthesis|lateral plate mesoderm formation http://purl.obolibrary.org/obo/GO_0048370 GO:1903779 biolink:BiologicalProcess regulation of cardiac conduction Any process that modulates the frequency, rate or extent of cardiac conduction. hp.json http://purl.obolibrary.org/obo/GO_1903779 GO:2000137 biolink:BiologicalProcess negative regulation of cell proliferation involved in heart morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of cell proliferation involved in heart morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_2000137 GO:1903778 biolink:BiologicalProcess protein localization to vacuolar membrane A process in which a protein is transported to, or maintained in, a location within a vacuolar membrane. hp.json protein localisation in vacuolar membrane|protein localization in vacuolar membrane|protein localisation to vacuolar membrane http://purl.obolibrary.org/obo/GO_1903778 GO:2000138 biolink:BiologicalProcess positive regulation of cell proliferation involved in heart morphogenesis Any process that activates or increases the frequency, rate or extent of cell proliferation involved in heart morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_2000138 GO:1903781 biolink:BiologicalProcess positive regulation of cardiac conduction Any process that activates or increases the frequency, rate or extent of cardiac conduction. hp.json upregulation of cardiac conduction|up regulation of cardiac conduction|up-regulation of cardiac conduction|activation of cardiac conduction http://purl.obolibrary.org/obo/GO_1903781 GO:1903780 biolink:BiologicalProcess negative regulation of cardiac conduction Any process that stops, prevents or reduces the frequency, rate or extent of cardiac conduction. hp.json down regulation of cardiac conduction|inhibition of cardiac conduction|down-regulation of cardiac conduction|downregulation of cardiac conduction http://purl.obolibrary.org/obo/GO_1903780 GO:0061337 biolink:BiologicalProcess cardiac conduction Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles. hp.json http://purl.obolibrary.org/obo/GO_0061337 GO:2000136 biolink:BiologicalProcess regulation of cell proliferation involved in heart morphogenesis Any process that modulates the frequency, rate or extent of cell proliferation involved in heart morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_2000136 GO:1903789 biolink:BiologicalProcess regulation of amino acid transmembrane transport Any process that modulates the frequency, rate or extent of amino acid transmembrane transport. hp.json regulation of amino acid membrane transport http://purl.obolibrary.org/obo/GO_1903789 GO:0048389 biolink:BiologicalProcess intermediate mesoderm development The process whose specific outcome is the progression of the intermediate mesoderm over time, from its formation to the mature structure. The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. hp.json http://purl.obolibrary.org/obo/GO_0048389 GO:1903793 biolink:BiologicalProcess positive regulation of anion transport Any process that activates or increases the frequency, rate or extent of anion transport. hp.json activation of anion transport|upregulation of anion transport|up-regulation of anion transport|up regulation of anion transport http://purl.obolibrary.org/obo/GO_1903793 GO:1903792 biolink:BiologicalProcess negative regulation of anion transport Any process that stops, prevents or reduces the frequency, rate or extent of anion transport. hp.json down-regulation of anion transport|down regulation of anion transport|inhibition of anion transport|downregulation of anion transport http://purl.obolibrary.org/obo/GO_1903792 GO:0048390 biolink:BiologicalProcess intermediate mesoderm morphogenesis The process in which the anatomical structures of the intermediate mesoderm are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0048390 GO:0048391 biolink:BiologicalProcess intermediate mesoderm formation The process that gives rise to the intermediate mesoderm. This process pertains to the initial formation of the structure from unspecified parts. hp.json http://purl.obolibrary.org/obo/GO_0048391 GO:1901137 biolink:BiologicalProcess carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. hp.json carbohydrate derivative anabolism|carbohydrate derivative synthesis|carbohydrate derivative biosynthesis|carbohydrate derivative formation http://purl.obolibrary.org/obo/GO_1901137 GO:1903797 biolink:BiologicalProcess positive regulation of inorganic anion transmembrane transport Any process that activates or increases the frequency, rate or extent of inorganic anion transmembrane transport. hp.json up regulation of inorganic anion transmembrane transport|up regulation of transmembrane inorganic anion transport|activation of inorganic anion transmembrane transport|activation of transmembrane inorganic anion transport|positive regulation of transmembrane inorganic anion transport|upregulation of inorganic anion membrane transport|upregulation of inorganic anion transmembrane transport|upregulation of transmembrane inorganic anion transport|positive regulation of inorganic anion membrane transport|up regulation of inorganic anion membrane transport|up-regulation of inorganic anion membrane transport|activation of inorganic anion membrane transport|up-regulation of inorganic anion transmembrane transport|up-regulation of transmembrane inorganic anion transport http://purl.obolibrary.org/obo/GO_1903797 GO:1903796 biolink:BiologicalProcess negative regulation of inorganic anion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of inorganic anion transmembrane transport. hp.json down regulation of inorganic anion membrane transport|inhibition of inorganic anion membrane transport|down-regulation of inorganic anion membrane transport|negative regulation of inorganic anion membrane transport|negative regulation of transmembrane inorganic anion transport|down-regulation of transmembrane inorganic anion transport|down-regulation of inorganic anion transmembrane transport|down regulation of transmembrane inorganic anion transport|down regulation of inorganic anion transmembrane transport|downregulation of inorganic anion membrane transport|downregulation of inorganic anion transmembrane transport|inhibition of transmembrane inorganic anion transport|inhibition of inorganic anion transmembrane transport|downregulation of transmembrane inorganic anion transport http://purl.obolibrary.org/obo/GO_1903796 GO:1901135 biolink:BiologicalProcess carbohydrate derivative metabolic process The chemical reactions and pathways involving carbohydrate derivative. hp.json carbohydrate derivative metabolism http://purl.obolibrary.org/obo/GO_1901135 goslim_generic|goslim_agr|prokaryote_subset|goslim_mouse GO:0061351 biolink:BiologicalProcess neural precursor cell proliferation The multiplication or reproduction of neural precursor cells, resulting in the expansion of a cell population. A neural precursor cell is either a nervous system stem cell or a nervous system progenitor cell. hp.json http://purl.obolibrary.org/obo/GO_0061351 GO:1903795 biolink:BiologicalProcess regulation of inorganic anion transmembrane transport Any process that modulates the frequency, rate or extent of inorganic anion transmembrane transport. hp.json regulation of transmembrane inorganic anion transport|regulation of inorganic anion membrane transport http://purl.obolibrary.org/obo/GO_1903795 GO:0097324 biolink:BiologicalProcess melanocyte migration The orderly movement of melanocytes from one site to another, often during the development of a multicellular organism. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance. hp.json http://purl.obolibrary.org/obo/GO_0097324 GO:1901148 biolink:BiologicalProcess gene expression involved in extracellular matrix organization Any gene expression that is involved in extracellular matrix organization. Gene expression includes both transcription to produce an RNA transcript, and the translation of that mRNA into protein. Protein maturation is included in gene expression when required to form an active form of a product from an inactive precursor form. hp.json expression of extracellular matrix proteins|extracellular matrix protein production http://purl.obolibrary.org/obo/GO_1901148 GO:0061383 biolink:BiologicalProcess trabecula morphogenesis The process of shaping a trabecula in an organ. A trabecula is a small, often microscopic, tissue element in the form of a small beam, strut or rod, which generally has a mechanical function. Trabecula are usually but not necessarily, composed of dense collagenous tissue. hp.json http://purl.obolibrary.org/obo/GO_0061383 GO:0061385 biolink:BiologicalProcess fibroblast proliferation involved in heart morphogenesis The multiplication or reproduction of fibroblasts, resulting in the expansion of a fibroblast population that contributes to the shaping of the heart. hp.json http://purl.obolibrary.org/obo/GO_0061385 GO:1901163 biolink:BiologicalProcess regulation of trophoblast cell migration Any process that modulates the frequency, rate or extent of trophoblast cell migration. hp.json http://purl.obolibrary.org/obo/GO_1901163 GO:1901164 biolink:BiologicalProcess negative regulation of trophoblast cell migration Any process that stops, prevents or reduces the frequency, rate or extent of trophoblast cell migration. hp.json downregulation of trophoblast cell migration|down regulation of trophoblast cell migration|inhibition of trophoblast cell migration|down-regulation of trophoblast cell migration http://purl.obolibrary.org/obo/GO_1901164 GO:1901162 biolink:BiologicalProcess primary amino compound biosynthetic process The chemical reactions and pathways resulting in the formation of primary amino compound. hp.json primary amino compound anabolism|primary amino compound biosynthesis|primary amino compound synthesis|primary amino compound formation http://purl.obolibrary.org/obo/GO_1901162 GO:1901160 biolink:BiologicalProcess primary amino compound metabolic process The chemical reactions and pathways involving primary amino compound. hp.json primary amino compound metabolism http://purl.obolibrary.org/obo/GO_1901160 UBERON:0011191 biolink:AnatomicalEntity ophthalmic vein Ophthalmic veins are veins which drain the eye. More specifically, they can refer to: Superior ophthalmic vein Inferior ophthalmic vein. EHDAA2:0004113|EMAPA:19313|XAO:0004169 hp.json vena ophthalmica|opthalmic vein http://purl.obolibrary.org/obo/UBERON_0011191 UBERON:0011192 biolink:AnatomicalEntity superior ophthalmic vein The superior ophthalmic vein begins at the inner angle of the orbit in a vein named the nasofrontal which communicates anteriorly with the angular vein; it pursues the same course as the ophthalmic artery, and receives tributaries corresponding to the branches of that vessel. Forming a short single trunk, it passes between the two heads of the Rectus lateralis and through the medial part of the superior orbital fissure, and ends in the cavernous sinus. The ethmoidal veins drain into the superior ophthalmic vein. Vorticose veins also drain into the superior ophthalmic vein. FMA:51246 hp.json superior opthalmic vein|posterior ethmoidal vein|superior ophthalmic|anterior ethmoidal vein http://purl.obolibrary.org/obo/UBERON_0011192 human_reference_atlas UBERON:0011198 biolink:AnatomicalEntity muscle layer of large intestine A muscle layer that is part of a large intestine. UMLS:C0734205|NCIT:C32927|FMA:14971 hp.json tunica muscularis intestini crassi|muscularis externa of large intestine|muscular coat of large intestine|muscular layer of large intestine http://purl.obolibrary.org/obo/UBERON_0011198 UBERON:0035165 biolink:AnatomicalEntity posterior surface of prostate The flattened aspect of the prostate with a slight furrow facing the rectum and anus. FMA:19592|NCIT:C13095 hp.json posterior surface of prostate gland|facies posterior (prostatae)|facies posterior prostatae http://purl.obolibrary.org/obo/UBERON_0035165 UBERON:0011197 biolink:AnatomicalEntity parathyroid epithelium An epithelium that is part of a parathyroid gland. NCIT:C48258|UMLS:C1709466|CALOHA:TS-2141 hp.json http://purl.obolibrary.org/obo/UBERON_0011197 GO:0051919 biolink:BiologicalProcess positive regulation of fibrinolysis Any process that activates, maintains or increases the frequency, rate or extent of fibrinolysis, an ongoing process that solubilizes fibrin, resulting in the removal of small blood clots. hp.json up-regulation of fibrinolysis|activation of fibrinolysis|upregulation of fibrinolysis|stimulation of fibrinolysis|up regulation of fibrinolysis http://purl.obolibrary.org/obo/GO_0051919 GO:0051917 biolink:BiologicalProcess regulation of fibrinolysis Any process that modulates the frequency, rate or extent of fibrinolysis, an ongoing process that solubilizes fibrin, resulting in the removal of small blood clots. hp.json http://purl.obolibrary.org/obo/GO_0051917 GO:0051918 biolink:BiologicalProcess negative regulation of fibrinolysis Any process that stops, prevents, or reduces the frequency, rate or extent of fibrinolysis, an ongoing process that solubilizes fibrin, resulting in the removal of small blood clots. hp.json downregulation of fibrinolysis|down regulation of fibrinolysis|inhibition of fibrinolysis|down-regulation of fibrinolysis http://purl.obolibrary.org/obo/GO_0051918 GO:2000185 biolink:BiologicalProcess regulation of phosphate transmembrane transport Any process that modulates the frequency, rate or extent of phosphate transmembrane transport. hp.json regulation of phosphate membrane transport http://purl.obolibrary.org/obo/GO_2000185 CL:0001054 biolink:Cell CD14-positive monocyte A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20. hp.json monocyte http://purl.obolibrary.org/obo/CL_0001054 GO:2000186 biolink:BiologicalProcess negative regulation of phosphate transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of phosphate transmembrane transport. hp.json negative regulation of phosphate membrane transport http://purl.obolibrary.org/obo/GO_2000186 GO:2000187 biolink:BiologicalProcess positive regulation of phosphate transmembrane transport Any process that activates or increases the frequency, rate or extent of phosphate transmembrane transport. hp.json positive regulation of phosphate membrane transport http://purl.obolibrary.org/obo/GO_2000187 CL:0001059 biolink:Cell common myeloid progenitor, CD34-positive A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. hp.json common myeloid precursor, CD34-positive|multipotential myeloid stem cell|myeloid stem cell|CMP|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|CFU-GEMM|CFU-S|pluripotent stem cell (bone marrow) http://purl.obolibrary.org/obo/CL_0001059 CL:0001050 biolink:Cell effector CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell with the phenotype CCR7-negative, CD45RA-positive. hp.json effector CD8-positive, alpha-beta T-cell|effector CD8+ T cell|effector CD8-positive, alpha-beta T lymphocyte|effector CD8-positive, alpha-beta T-lymphocyte http://purl.obolibrary.org/obo/CL_0001050 GO:2000181 biolink:BiologicalProcess negative regulation of blood vessel morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_2000181 UBERON:0035174 biolink:AnatomicalEntity right ear The organ of hearing located on the right side of the head. FMA:53641|NCIT:C81285 hp.json http://purl.obolibrary.org/obo/UBERON_0035174 PR:P32754 biolink:Protein 4-hydroxyphenylpyruvate dioxygenase (human) A 4-hydroxyphenylpyruvate dioxygenase that is encoded in the genome of human. UniProtKB:P32754 hp.json 4-hydroxyphenylpyruvic acid oxidase (human)|PPD|hHPD|4HPPD (human)|HPD|HPPDase (human) http://purl.obolibrary.org/obo/PR_P32754 UBERON:0011185 biolink:AnatomicalEntity gastrointestinal sphincter A sphincter muscle that is part of the gastrointestinal system. NCIT:C32669|UMLS:C1517464 hp.json http://purl.obolibrary.org/obo/UBERON_0011185 CHEBI:85234 biolink:ChemicalSubstance human blood serum metabolite Any metabolite (endogenous or exogenous) found in human blood serum samples. hp.json human blood serum metabolites http://purl.obolibrary.org/obo/CHEBI_85234 3_STAR UBERON:0011189 biolink:AnatomicalEntity lamina propria of large intestine A lamina propria that is part of a large intestine. UMLS:C1708644|NCIT:C49298|FMA:15654 hp.json large intestine lamina propria|lamina propria of mucosa of large intestine|large intestinal lamina propria http://purl.obolibrary.org/obo/UBERON_0011189 human_reference_atlas CL:0001066 biolink:Cell erythroid progenitor cell, mammalian A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative). BTO:0004911 hp.json blast forming unit erythroid|colony forming unit erythroid|erythroid stem cell|burst forming unit erythroid|CFU-E|BFU-E http://purl.obolibrary.org/obo/CL_0001066 GO:2000195 biolink:BiologicalProcess negative regulation of female gonad development Any process that stops, prevents, or reduces the frequency, rate or extent of female gonad development. hp.json negative regulation of ovarian development|negative regulation of ovary development http://purl.obolibrary.org/obo/GO_2000195 GO:2000196 biolink:BiologicalProcess positive regulation of female gonad development Any process that activates or increases the frequency, rate or extent of female gonad development. hp.json positive regulation of ovary development|positive regulation of ovarian development http://purl.obolibrary.org/obo/GO_2000196 CL:0001065 biolink:Cell innate lymphoid cell A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. hp.json http://purl.obolibrary.org/obo/CL_0001065 CL:0001067 biolink:Cell group 1 innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. hp.json http://purl.obolibrary.org/obo/CL_0001067 CL:0001060 biolink:Cell hematopoietic oligopotent progenitor cell, lineage-negative A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. hp.json http://purl.obolibrary.org/obo/CL_0001060 CL:0001062 biolink:Cell effector memory CD8-positive, alpha-beta T cell, terminally differentiated A CD8-positive, alpha beta memory T cell with the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. hp.json TEMRA|CD8+ TEMRA|CD8-positive TEMRA http://purl.obolibrary.org/obo/CL_0001062 CL:0001061 biolink:Cell abnormal cell A cell found in an organism or derived from an organism exhibiting a phenotype that deviates from the expected phenotype of any native cell type of that organism. Abnormal cells are typically found in disease states or disease models. https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C12913 hp.json http://purl.obolibrary.org/obo/CL_0001061 CL:0001064 biolink:Cell malignant cell A neoplastic cell that is capable of entering a surrounding tissue https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C12917 hp.json cancer cell http://purl.obolibrary.org/obo/CL_0001064 CL:0001063 biolink:Cell neoplastic cell An abnormal cell exhibiting dysregulation of cell proliferation or programmed cell death and capable of forming a neoplasm, an aggregate of cells in the form of a tumor mass or an excess number of abnormal cells (liquid tumor) within an organism. https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C12922 hp.json tumor cell|tumour cell http://purl.obolibrary.org/obo/CL_0001063 GO:2000194 biolink:BiologicalProcess regulation of female gonad development Any process that modulates the frequency, rate or extent of female gonad development. hp.json regulation of ovary development|regulation of ovarian development http://purl.obolibrary.org/obo/GO_2000194 GO:0051931 biolink:BiologicalProcess regulation of sensory perception Any process that modulates the frequency, rate or extent of sensory perception, the series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. hp.json http://purl.obolibrary.org/obo/GO_0051931 UBERON:0011171 biolink:AnatomicalEntity joint connecting upper and lower jaws Synovial joint that articulates bones of upper and lower jaw. NCIT:C32888 hp.json jaw joint|craniomandibular joint http://purl.obolibrary.org/obo/UBERON_0011171 GO:0051937 biolink:BiologicalProcess catecholamine transport The directed movement of catecholamines, a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. hp.json http://purl.obolibrary.org/obo/GO_0051937 CL:0001035 biolink:Cell bone cell A connective tissue cell found in bone. hp.json http://purl.obolibrary.org/obo/CL_0001035 CL:0001031 biolink:Cell cerebellar granule cell Granule cell that is part of the cerebellum. BTO:0004278 hp.json http://purl.obolibrary.org/obo/CL_0001031 CHEBI:26932 biolink:ChemicalSubstance tetrapyrrole A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. hp.json tetrapyrrole|a tetrapyrrole|tetrapyrroles http://purl.obolibrary.org/obo/CHEBI_26932 3_STAR CHEBI:26935 biolink:ChemicalSubstance tetraterpenoid hp.json http://purl.obolibrary.org/obo/CHEBI_26935 UBERON:0011160 biolink:AnatomicalEntity nasal suture A suture joining a nasal bone to another bone. hp.json http://purl.obolibrary.org/obo/UBERON_0011160 UBERON:0035198 biolink:AnatomicalEntity superficial lymphatic vessel The tubules that carry lymph throughout the body that are just beneath the surface of the skin. FMA:52011|NCIT:C33663 hp.json superficial lymph vessel http://purl.obolibrary.org/obo/UBERON_0035198 UBERON:0011164 biolink:AnatomicalEntity neurocranium bone A bone that is part of a neurocranium [Automatically generated definition]. MA:0001478|SCTID:120229002|EMAPA:35238 hp.json chondrocranium bone http://purl.obolibrary.org/obo/UBERON_0011164 CL:0001044 biolink:Cell effector CD4-positive, alpha-beta T cell A CD4-positive, alpha-beta T cell with the phenotype CCR7-negative, CD45RA-positive. hp.json effector CD4-positive, alpha-beta T-lymphocyte|effector CD4+ T cell|effector CD4-positive, alpha-beta T-cell|effector CD4-positive, alpha-beta T lymphocyte http://purl.obolibrary.org/obo/CL_0001044 HP:0033480 biolink:PhenotypicFeature Hypobilirubinemia Decreased circulation of bilirubin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033480 GO:1903709 biolink:BiologicalProcess uterine gland development The process whose specific outcome is the progression of an uterine gland over time, from its formation to the mature structure. hp.json glandulae uterinae development|set of uterine glands development|glandular part of endometrium development|uterine glands set development|uterine glands development|endometrial gland development|endometrium gland development http://purl.obolibrary.org/obo/GO_1903709 GO:0051952 biolink:BiologicalProcess regulation of amine transport Any process that modulates the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0051952 GO:1903708 biolink:BiologicalProcess positive regulation of hemopoiesis Any process that activates or increases the frequency, rate or extent of hemopoiesis. hp.json positive regulation of haemopoiesis|up regulation of hematopoiesis|up-regulation of hemopoiesis|up-regulation of blood cell formation|activation of blood cell formation|up regulation of haemopoiesis|up regulation of blood cell biosynthesis|activation of hematopoiesis|positive regulation of hematopoiesis|up regulation of hemopoiesis|positive regulation of blood cell biosynthesis|activation of blood cell biosynthesis|activation of hemopoiesis|up-regulation of haemopoiesis|activation of haemopoiesis|upregulation of hematopoiesis|upregulation of blood cell formation|upregulation of blood cell biosynthesis|upregulation of hemopoiesis|positive regulation of blood cell formation|upregulation of haemopoiesis|up-regulation of hematopoiesis|up regulation of blood cell formation|up-regulation of blood cell biosynthesis http://purl.obolibrary.org/obo/GO_1903708 HP:0033482 biolink:PhenotypicFeature Limited shoulder flexion A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head. hp.json http://purl.obolibrary.org/obo/HP_0033482 GO:1903707 biolink:BiologicalProcess negative regulation of hemopoiesis Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis. hp.json inhibition of hemopoiesis|downregulation of blood cell formation|downregulation of hemopoiesis|down regulation of blood cell formation|downregulation of haemopoiesis|down-regulation of hematopoiesis|inhibition of blood cell formation|negative regulation of hematopoiesis|down-regulation of blood cell formation|negative regulation of blood cell formation|down-regulation of blood cell biosynthesis|negative regulation of blood cell biosynthesis|down-regulation of hemopoiesis|down regulation of hematopoiesis|down regulation of haemopoiesis|down regulation of blood cell biosynthesis|inhibition of haemopoiesis|down-regulation of haemopoiesis|down regulation of hemopoiesis|negative regulation of haemopoiesis|inhibition of hematopoiesis|downregulation of hematopoiesis|inhibition of blood cell biosynthesis|downregulation of blood cell biosynthesis http://purl.obolibrary.org/obo/GO_1903707 HP:0033481 biolink:PhenotypicFeature Limited lateral neck flexion Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder. hp.json http://purl.obolibrary.org/obo/HP_0033481 GO:1903706 biolink:BiologicalProcess regulation of hemopoiesis Any process that modulates the frequency, rate or extent of hemopoiesis. hp.json regulation of blood cell formation|regulation of haemopoiesis|regulation of hematopoiesis|regulation of blood cell biosynthesis http://purl.obolibrary.org/obo/GO_1903706 GO:0051955 biolink:BiologicalProcess regulation of amino acid transport Any process that modulates the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0051955 GO:0051956 biolink:BiologicalProcess negative regulation of amino acid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json down-regulation of amino acid transport|negative regulation of amino acid transmembrane transport|downregulation of amino acid transport|down regulation of amino acid transport|inhibition of amino acid transport http://purl.obolibrary.org/obo/GO_0051956 GO:0051953 biolink:BiologicalProcess negative regulation of amine transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json down-regulation of amine transport|down regulation of amine transport|downregulation of amine transport|inhibition of amine transport http://purl.obolibrary.org/obo/GO_0051953 GO:0051954 biolink:BiologicalProcess positive regulation of amine transport Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json up regulation of amine transport|activation of amine transport|stimulation of amine transport|upregulation of amine transport|up-regulation of amine transport http://purl.obolibrary.org/obo/GO_0051954 GO:1903702 biolink:BiologicalProcess esophagus development The process whose specific outcome is the progression of an esophagus over time, from its formation to the mature structure. hp.json oesophagus development|gullet development|esophageal development http://purl.obolibrary.org/obo/GO_1903702 HP:0033488 biolink:PhenotypicFeature Glomerular endocapillary leukocyte hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. hp.json Glomerular endocapillary hypercellularity consisting of leukocytes http://purl.obolibrary.org/obo/HP_0033488 CL:0001019 biolink:Cell CD115-positive monocyte OR common dendritic progenitor hp.json http://purl.obolibrary.org/obo/CL_0001019 GO:1903701 biolink:BiologicalProcess substantia propria of cornea development The process whose specific outcome is the progression of a substantia propria of cornea over time, from its formation to the mature structure. hp.json substantia propria development|stroma of cornea development|corneal stroma development http://purl.obolibrary.org/obo/GO_1903701 HP:0033487 biolink:PhenotypicFeature Glomerular basement membranes powdery deposit Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. hp.json Glomerular basement membranes with powdery deposit http://purl.obolibrary.org/obo/HP_0033487 GO:0051957 biolink:BiologicalProcess positive regulation of amino acid transport Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json upregulation of amino acid transport|up regulation of amino acid transport|stimulation of amino acid transport|up-regulation of amino acid transport|activation of amino acid transport|positive regulation of amino acid transmembrane transport http://purl.obolibrary.org/obo/GO_0051957 HP:0033489 biolink:PhenotypicFeature Glomerular endocapillary neutrophil hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. hp.json http://purl.obolibrary.org/obo/HP_0033489 HP:0033484 biolink:PhenotypicFeature Elevated circulating linoleylcarnitine concentration Increased concentration of linoleylcarnitine in the blood circulation. hp.json Elevated plasma linoleylcarnitine, C18:2 http://purl.obolibrary.org/obo/HP_0033484 HP:0033483 biolink:PhenotypicFeature Podocyte infolding Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. hp.json http://purl.obolibrary.org/obo/HP_0033483 HP:0033486 biolink:PhenotypicFeature Abnormal glomerular basement membrane texture Anomalous appearance or structure of the surface of the glomerular basement membrane. hp.json http://purl.obolibrary.org/obo/HP_0033486 UBERON:0035128 biolink:AnatomicalEntity manus cartilage element EMAPA:32631 hp.json hand cartilage condensation http://purl.obolibrary.org/obo/UBERON_0035128 HP:0033485 biolink:PhenotypicFeature Glomerular basement membrane disruption A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. hp.json Disruption of the glomerular basement membrane|Glomerular basement membrane rupture http://purl.obolibrary.org/obo/HP_0033485 UBERON:0035127 biolink:AnatomicalEntity suture of hard palate Any of the sutures of the hard palate. hp.json palatine suture http://purl.obolibrary.org/obo/UBERON_0035127 UBERON:0035119 biolink:AnatomicalEntity diastema between incisors A space or gap any two incisors. This may be a midline diastema between central incisors, or a diastema located entirely in a single jaw quadrant between lateral incisors. hp.json incisor diastema|interdental space, incisors http://purl.obolibrary.org/obo/UBERON_0035119 UBERON:0035118 biolink:AnatomicalEntity material entity in digestive tract Any material entity that is located in the digestive tract. This includes undigested food and liquid as well as unexcreted waste products. It also includes other entities such as ingested stones used to aid digestion. Any microbial cells or cell populations are also included. hp.json digestive tract contents|ingested material entity http://purl.obolibrary.org/obo/UBERON_0035118 CL:0001012 biolink:Cell CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor hp.json http://purl.obolibrary.org/obo/CL_0001012 GO:2000145 biolink:BiologicalProcess regulation of cell motility Any process that modulates the frequency, rate or extent of cell motility. hp.json regulation of cell movement|regulation of cell locomotion|regulation of movement of a cell http://purl.obolibrary.org/obo/GO_2000145 GO:2000146 biolink:BiologicalProcess negative regulation of cell motility Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility. hp.json negative regulation of cell locomotion|negative regulation of cell movement|negative regulation of movement of a cell http://purl.obolibrary.org/obo/GO_2000146 GO:0048308 biolink:BiologicalProcess organelle inheritance The partitioning of organelles between daughter cells at cell division. hp.json http://purl.obolibrary.org/obo/GO_0048308 goslim_yeast|goslim_pir GO:2000147 biolink:BiologicalProcess positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell motility. hp.json positive regulation of movement of a cell|positive regulation of cell movement|positive regulation of cell locomotion http://purl.obolibrary.org/obo/GO_2000147 CHEBI:26907 biolink:ChemicalSubstance tetrahydrofolic acid A group of heterocyclic compounds based on the 5,6,7,8-tetrahydropteroic acid skeleton conjugated with one or more L-glutamic acid units. hp.json tetrahydrofolates|tetrahydrofolic acids|tetrahydrofolate http://purl.obolibrary.org/obo/CHEBI_26907 3_STAR HP:0033491 biolink:PhenotypicFeature Global mesangial sclerosis A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). hp.json http://purl.obolibrary.org/obo/HP_0033491 GO:0051962 biolink:BiologicalProcess positive regulation of nervous system development Any process that activates, maintains or increases the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. hp.json up regulation of nervous system development|stimulation of nervous system development|up-regulation of nervous system development|activation of nervous system development|upregulation of nervous system development http://purl.obolibrary.org/obo/GO_0051962 NCBITaxon:10066 biolink:OrganismalEntity Muridae PMID:15371245|GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_10066 HP:0033490 biolink:PhenotypicFeature Glomerular endocapillary foam-cell hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. hp.json http://purl.obolibrary.org/obo/HP_0033490 GO:0051963 biolink:BiologicalProcess regulation of synapse assembly Any process that modulates the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse. hp.json regulation of synapse biogenesis|regulation of synaptogenesis http://purl.obolibrary.org/obo/GO_0051963 goslim_synapse GO:0051960 biolink:BiologicalProcess regulation of nervous system development Any process that modulates the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. hp.json http://purl.obolibrary.org/obo/GO_0051960 HP:0033493 biolink:PhenotypicFeature Mesangial matrix expansion Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. hp.json Increased glomerular mesangial matrix http://purl.obolibrary.org/obo/HP_0033493 HP:0033492 biolink:PhenotypicFeature Podocyte cytoskeletal condensation Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. hp.json http://purl.obolibrary.org/obo/HP_0033492 GO:0051961 biolink:BiologicalProcess negative regulation of nervous system development Any process that stops, prevents, or reduces the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. hp.json downregulation of nervous system development|down regulation of nervous system development|inhibition of nervous system development|down-regulation of nervous system development http://purl.obolibrary.org/obo/GO_0051961 GO:0051964 biolink:BiologicalProcess negative regulation of synapse assembly Any process that stops, prevents, or reduces the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse. hp.json negative regulation of synaptogenesis|downregulation of synapse assembly|down regulation of synapse assembly|inhibition of synapse assembly|down-regulation of synapse assembly|negative regulation of synapse biogenesis http://purl.obolibrary.org/obo/GO_0051964 UBERON:0035131 biolink:AnatomicalEntity auditory ossicle cartilage element EMAPA:35979 hp.json ossicle cartilage condensation http://purl.obolibrary.org/obo/UBERON_0035131 GO:0051965 biolink:BiologicalProcess positive regulation of synapse assembly Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse. hp.json stimulation of synapse assembly|up-regulation of synapse assembly|activation of synapse assembly|positive regulation of synapse biogenesis|positive regulation of synaptogenesis|upregulation of synapse assembly|up regulation of synapse assembly http://purl.obolibrary.org/obo/GO_0051965 UBERON:0035130 biolink:AnatomicalEntity auditory ossicle endochondral element hp.json auditory skeletal element|ossicle element of ear|ear ossicles element|middle ear skeletal element|middle ear ossicle element|ossicular chain element|ossicle element of inner ear|ossicle element|ear ossicle element http://purl.obolibrary.org/obo/UBERON_0035130 GO:0048318 biolink:BiologicalProcess axial mesoderm development The process whose specific outcome is the progression of the axial mesoderm over time, from its formation to the mature structure. The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. hp.json http://purl.obolibrary.org/obo/GO_0048318 UBERON:0035133 biolink:AnatomicalEntity longitudinal arch of pes A curved region of the skeleton of the pes (foot) formed by the tarsal and metatarsal bones. FMA:75030 hp.json longitudinal arch of foot http://purl.obolibrary.org/obo/UBERON_0035133 HP:0033499 biolink:PhenotypicFeature Glomerular basement membrane electron dense deposits Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. hp.json http://purl.obolibrary.org/obo/HP_0033499 HP:0033498 biolink:PhenotypicFeature Segmental glomerulosclerosis away from the vascular and tubular poles Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. hp.json http://purl.obolibrary.org/obo/HP_0033498 UBERON:0035132 biolink:AnatomicalEntity auditory ossicle pre-cartilage element EMAPA:35982 hp.json ossicle pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0035132 CL:0001029 biolink:Cell common dendritic progenitor Common dendritic precursor is a hematopoietic progenitor cell that is CD117-low, CD135-positive, CD115-positive and lacks plasma membrane parts for hematopoietic lineage markers. hp.json common dendritic precursor|pro-DCs|CDP http://purl.obolibrary.org/obo/CL_0001029 GO:0051969 biolink:BiologicalProcess regulation of transmission of nerve impulse Any process that modulates the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. hp.json regulation of conduction of nerve impulse http://purl.obolibrary.org/obo/GO_0051969 HP:0033495 biolink:PhenotypicFeature Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. hp.json http://purl.obolibrary.org/obo/HP_0033495 GO:0048313 biolink:BiologicalProcess Golgi inheritance The partitioning of Golgi apparatus between daughter cells at cell division. hp.json Golgi division|Golgi partitioning http://purl.obolibrary.org/obo/GO_0048313 HP:0033494 biolink:PhenotypicFeature Glomerular basement membrane amyloid spicule Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. hp.json http://purl.obolibrary.org/obo/HP_0033494 UBERON:0035139 biolink:AnatomicalEntity anterior nasal spine of maxilla A pointed projection at the front extremity of the intermaxillary suture. FMA:75770 hp.json anterior nasal spine|spina nasalis anterior corporis maxillae http://purl.obolibrary.org/obo/UBERON_0035139 GO:0120305 biolink:BiologicalProcess regulation of pigmentation Any process that modulates the frequency, rate or extent of the deposition or modulates the distribution of coloring matter in an organism. hp.json http://purl.obolibrary.org/obo/GO_0120305 HP:0033497 biolink:PhenotypicFeature Tip variant segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. hp.json Segmental glomerulosclerosis, tip variant http://purl.obolibrary.org/obo/HP_0033497 HP:0033496 biolink:PhenotypicFeature Perihilar segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. hp.json Segmental glomerulosclerosis, perihilar pattern http://purl.obolibrary.org/obo/HP_0033496 CL:0001022 biolink:Cell CD115-positive monocyte CD115-positive monocyte is a monocyte that is CD115-positive and CD11b-positive. hp.json http://purl.obolibrary.org/obo/CL_0001022 CL:0001021 biolink:Cell CD34-positive, CD38-positive common lymphoid progenitor A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. hp.json CD10-positive common lymphocyte progenitor|CD10-positive common lymphoid precursor|CD10-positive common lymphocyte precursor http://purl.obolibrary.org/obo/CL_0001021 UBERON:0035129 biolink:AnatomicalEntity pes cartilage element EMAPA:32657 hp.json foot cartilage condensation http://purl.obolibrary.org/obo/UBERON_0035129 CL:0001024 biolink:Cell CD34-positive, CD38-negative hematopoietic stem cell CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. CALOHA:TS-0448|FMA:86475 hp.json CD133-positive hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0001024 GO:2000155 biolink:BiologicalProcess positive regulation of cilium-dependent cell motility Any process that activates or increases the frequency, rate or extent of cilium-dependent cell motility. hp.json positive regulation of ciliary cell motility http://purl.obolibrary.org/obo/GO_2000155 CL:0001026 biolink:Cell CD34-positive, CD38-positive common myeloid progenitor A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. hp.json CD71-positive common myeloid precursor http://purl.obolibrary.org/obo/CL_0001026 CL:0001028 biolink:Cell CD7-positive lymphoid progenitor cell CD7-positive lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-positive and is CD45RA-negative. hp.json CD7-positive lymphoid precursor http://purl.obolibrary.org/obo/CL_0001028 CL:0001027 biolink:Cell CD7-negative lymphoid progenitor cell CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. hp.json CD7-negative lymphoid precursor http://purl.obolibrary.org/obo/CL_0001027 GO:0048319 biolink:BiologicalProcess axial mesoderm morphogenesis The process in which the anatomical structures of the axial mesoderm are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0048319 GO:0048320 biolink:BiologicalProcess axial mesoderm formation The process that gives rise to the axial mesoderm. This process pertains to the initial formation of the structure from unspecified parts. hp.json http://purl.obolibrary.org/obo/GO_0048320 GO:0051971 biolink:BiologicalProcess positive regulation of transmission of nerve impulse Any process that activates, maintains or increases the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. hp.json up-regulation of transmission of nerve impulse|positive regulation of conduction of nerve impulse|up regulation of transmission of nerve impulse|activation of transmission of nerve impulse|stimulation of transmission of nerve impulse|upregulation of transmission of nerve impulse http://purl.obolibrary.org/obo/GO_0051971 GO:1903729 biolink:BiologicalProcess regulation of plasma membrane organization Any process that modulates the frequency, rate or extent of plasma membrane organization. hp.json regulation of plasma membrane organization and biogenesis|regulation of plasma membrane organisation http://purl.obolibrary.org/obo/GO_1903729 PR:P05186 biolink:Protein alkaline phosphatase, tissue-nonspecific isozyme (human) An alkaline phosphatase, tissue-nonspecific isozyme that is encoded in the genome of human. UniProtKB:P05186 hp.json phosphoamidase (human)|TNS-ALP (human)|hALPL|phosphocreatine phosphatase (human)|ALPL|TNSALP (human)|alkaline phosphatase liver/bone/kidney isozyme (human)|AP-TNAP (human) http://purl.obolibrary.org/obo/PR_P05186 GO:0061303 biolink:BiologicalProcess cornea development in camera-type eye The progression of the cornea over time, from its formation to the mature structure. The cornea is the transparent structure that covers the anterior of the eye. hp.json http://purl.obolibrary.org/obo/GO_0061303 GO:0061304 biolink:BiologicalProcess retinal blood vessel morphogenesis The process whose specific outcome is the progression of a blood vessel of the retina over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0061304 GO:0061307 biolink:BiologicalProcess cardiac neural crest cell differentiation involved in heart development The process in which a relatively unspecialized cell acquires specialized features of a cardiac neural crest cell that will migrate to the heart and contribute to its development. Cardiac neural crest cells are specialized cells that migrate toward the heart from the third, fourth and sixth pharyngeal arches. hp.json http://purl.obolibrary.org/obo/GO_0061307 GO:0061308 biolink:BiologicalProcess cardiac neural crest cell development involved in heart development The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the development of the heart. hp.json http://purl.obolibrary.org/obo/GO_0061308 GO:0061309 biolink:BiologicalProcess cardiac neural crest cell development involved in outflow tract morphogenesis The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the shaping of the outflow tract. hp.json http://purl.obolibrary.org/obo/GO_0061309 PR:P05187 biolink:Protein alkaline phosphatase, placental type (human) An alkaline phosphatase, placental type that is encoded in the genome of human. UniProtKB:P05187 hp.json hALPP|PLAP-1 (human)|ALPP|PLAP|alkaline phosphatase Regan isozyme (human)|placental alkaline phosphatase 1 (human) http://purl.obolibrary.org/obo/PR_P05187 GO:0051970 biolink:BiologicalProcess negative regulation of transmission of nerve impulse Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. hp.json downregulation of transmission of nerve impulse|inhibition of transmission of nerve impulse|negative regulation of conduction of nerve impulse|down-regulation of transmission of nerve impulse|down regulation of transmission of nerve impulse http://purl.obolibrary.org/obo/GO_0051970 GO:0051984 biolink:BiologicalProcess positive regulation of chromosome segregation Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. hp.json upregulation of chromosome segregation|up regulation of chromosome segregation|stimulation of chromosome segregation|up-regulation of chromosome segregation|activation of chromosome segregation http://purl.obolibrary.org/obo/GO_0051984 GO:0048332 biolink:BiologicalProcess mesoderm morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0048332 GO:0051985 biolink:BiologicalProcess negative regulation of chromosome segregation Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. hp.json down regulation of chromosome segregation|inhibition of chromosome segregation|down-regulation of chromosome segregation|downregulation of chromosome segregation http://purl.obolibrary.org/obo/GO_0051985 GO:0051983 biolink:BiologicalProcess regulation of chromosome segregation Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. hp.json http://purl.obolibrary.org/obo/GO_0051983 CL:0001008 biolink:Cell Kit and Sca1-positive hematopoietic stem cell A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative. hp.json LSK stem cell|Sca1-positive hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0001008 GO:0048339 biolink:BiologicalProcess paraxial mesoderm development The process whose specific outcome is the progression of the paraxial mesoderm over time, from its formation to the mature structure. The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube. hp.json http://purl.obolibrary.org/obo/GO_0048339 UBERON:0035159 biolink:AnatomicalEntity entire surface of organism Anatomical surface, which is the external surface of the whole body. Examples: There is only one body surface. SCTID:261060002|NCIT:C29667|FMA:61695|UMLS:C0489451 hp.json surface of body http://purl.obolibrary.org/obo/UBERON_0035159 GO:0048333 biolink:BiologicalProcess mesodermal cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mesoderm cell. hp.json mesoderm cell differentiation http://purl.obolibrary.org/obo/GO_0048333 GO:2000173 biolink:BiologicalProcess negative regulation of branching morphogenesis of a nerve Any process that stops, prevents, or reduces the frequency, rate or extent of branching morphogenesis of a nerve. hp.json http://purl.obolibrary.org/obo/GO_2000173 GO:2000174 biolink:BiologicalProcess regulation of pro-T cell differentiation Any process that modulates the frequency, rate or extent of pro-T cell differentiation. hp.json regulation of pro-T lymphocyte differentiation http://purl.obolibrary.org/obo/GO_2000174 GO:2000175 biolink:BiologicalProcess negative regulation of pro-T cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of pro-T cell differentiation. hp.json negative regulation of pro-T lymphocyte differentiation http://purl.obolibrary.org/obo/GO_2000175 GO:2000176 biolink:BiologicalProcess positive regulation of pro-T cell differentiation Any process that activates or increases the frequency, rate or extent of pro-T cell differentiation. hp.json positive regulation of pro-T lymphocyte differentiation http://purl.obolibrary.org/obo/GO_2000176 GO:2000177 biolink:BiologicalProcess regulation of neural precursor cell proliferation Any process that modulates the frequency, rate or extent of neural precursor cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_2000177 GO:2000178 biolink:BiologicalProcess negative regulation of neural precursor cell proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of neural precursor cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_2000178 GO:2000179 biolink:BiologicalProcess positive regulation of neural precursor cell proliferation Any process that activates or increases the frequency, rate or extent of neural precursor cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_2000179 GO:2000172 biolink:BiologicalProcess regulation of branching morphogenesis of a nerve Any process that modulates the frequency, rate or extent of branching morphogenesis of a nerve. hp.json http://purl.obolibrary.org/obo/GO_2000172 HP:0006060 biolink:PhenotypicFeature Tombstone-shaped proximal phalanges UMLS:C1862420 hp.json Tombstone-shaped innermost digital bones http://purl.obolibrary.org/obo/HP_0006060 HP:0033680 biolink:PhenotypicFeature Pilocytic astrocytoma The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities. NCIT:C4047 hp.json http://purl.obolibrary.org/obo/HP_0033680 HP:0033686 biolink:PhenotypicFeature Mitochondrial hypertrophy Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM. hp.json Megamitochondria http://purl.obolibrary.org/obo/HP_0033686 HP:0031023 biolink:PhenotypicFeature Multiple mucosal neuromas Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. NCIT:C6559 hp.json http://purl.obolibrary.org/obo/HP_0031023 HP:0033685 biolink:PhenotypicFeature Fiber type grouping An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. hp.json Fibre type grouping http://purl.obolibrary.org/obo/HP_0033685 HP:0031024 biolink:PhenotypicFeature Cylindroma A benign skin adnexal tumor of eccrine differentiation. hp.json http://purl.obolibrary.org/obo/HP_0031024 HP:0033688 biolink:PhenotypicFeature Long term memory impairment A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that). hp.json Long term memory loss http://purl.obolibrary.org/obo/HP_0033688 HP:0031025 biolink:PhenotypicFeature Gastric leiomyosarcoma A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible. hp.json http://purl.obolibrary.org/obo/HP_0031025 HP:0031026 biolink:PhenotypicFeature Snail-like ilia The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. hp.json Schneckenbecken dysplasia|Snail-like pelvis|Snail-shaped ilia http://purl.obolibrary.org/obo/HP_0031026 HP:0033687 biolink:PhenotypicFeature Short term memory impairment A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds). hp.json Short term memory loss http://purl.obolibrary.org/obo/HP_0033687 HP:0033682 biolink:PhenotypicFeature Pleomorphic xanthoastrocytoma Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth. hp.json http://purl.obolibrary.org/obo/HP_0033682 HP:0033681 biolink:PhenotypicFeature Oligodendroglioma Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG. NCIT:C3288 hp.json http://purl.obolibrary.org/obo/HP_0033681 HP:0031020 biolink:PhenotypicFeature Bone marrow hypercellularity A larger than normal amount or percentage of hematopoietic cells relative to marrow fat. hp.json http://purl.obolibrary.org/obo/HP_0031020 HP:0033684 biolink:PhenotypicFeature Abnormal muscle fiber-type distribution Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types hp.json http://purl.obolibrary.org/obo/HP_0033684 HP:0031021 biolink:PhenotypicFeature Squamous Papilloma A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus]. NCIT:C3712 hp.json http://purl.obolibrary.org/obo/HP_0031021 UBERON:0011234 biolink:AnatomicalEntity fibrous membrane of synovial tendon sheath FMA:40877 hp.json http://purl.obolibrary.org/obo/UBERON_0011234 UBERON:0011233 biolink:AnatomicalEntity synovial membrane of synovial tendon sheath Synovial sac which surrounds parts of one or more tendons. Examples: synovial tendon sheath of manual digit 2, radial bursa. FMA:40878|Wikipedia:Synovial_sheath|BTO:0001823 hp.json synovium http://purl.obolibrary.org/obo/UBERON_0011233 HP:0033683 biolink:PhenotypicFeature Jaw hyperreflexia Increased intensity of muscle tendon reflexes in jaw. hp.json Brisk jaw jerk http://purl.obolibrary.org/obo/HP_0033683 HP:0031022 biolink:PhenotypicFeature Oropharyngeal squamous papilloma A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus]. NCIT:C6038 hp.json Squamous papilloma of the uvula http://purl.obolibrary.org/obo/HP_0031022 GO:0120178 biolink:NamedThing steroid hormone biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0120178 HP:0031027 biolink:PhenotypicFeature Internal notch of the femoral head A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. hp.json http://purl.obolibrary.org/obo/HP_0031027 HP:0031028 biolink:PhenotypicFeature Lactescent serum Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. hp.json Milk-like serum|Plasma lactescence http://purl.obolibrary.org/obo/HP_0031028 HP:0033689 biolink:PhenotypicFeature Anterograde memory impairment The impaired ability to establish new long-term memories. hp.json Anterograde amnesia http://purl.obolibrary.org/obo/HP_0033689 HP:0031029 biolink:PhenotypicFeature Elevated carcinoembryonic antigen level An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker. hp.json Increased plasma CEA http://purl.obolibrary.org/obo/HP_0031029 HP:0006059 biolink:PhenotypicFeature Cone-shaped metacarpal epiphyses A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. UMLS:C1855239 hp.json Metacarpal cone-shaped epiphyses|Cone-shaped end part of long bone http://purl.obolibrary.org/obo/HP_0006059 HP:0006055 biolink:PhenotypicFeature Ulnar deviated club hands UMLS:C1833881 hp.json http://purl.obolibrary.org/obo/HP_0006055 HP:0006070 biolink:PhenotypicFeature Metacarpophalangeal joint contracture A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. UMLS:C2677209 hp.json Metacarpal/phalangeal joint contractures http://purl.obolibrary.org/obo/HP_0006070 PR:000001839 biolink:Protein T-cell surface glycoprotein CD5 A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. PANTHER:PTHR19331:SF6 hp.json CD5|lymphocyte antigen T1/Leu-1|ly-1|lymphocyte antigen 1|LEU1|Lyt-1 http://purl.obolibrary.org/obo/PR_000001839 HP:0033691 biolink:PhenotypicFeature Procedural memory loss A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument. hp.json Impaired procedural memory|Procedural memory deficit http://purl.obolibrary.org/obo/HP_0033691 HP:0033690 biolink:PhenotypicFeature Retrograde memory impairment Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia. hp.json Retrograde amnesia http://purl.obolibrary.org/obo/HP_0033690 UBERON:0001899 biolink:AnatomicalEntity epithalamus Most dorsal part of the thalamus, comprising the pineal gland and habenular nuclei in most vertebrates. In a few vertebrates, it also includes the parietal eye. (Butler and Hodos, Comparative Vertebrate Neuroanatomy, 2nd ed, 2005, pg. 345-346. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=292|DHBA:10451|MAT:0000422|ZFA:0000509|BAMS:EPI|BAMS:Epi|EHDAA:5433|MA:0000172|MIAA:0000422|TAO:0000509|UMLS:C0152361|EV:0100220|UMLS:C0152361|CALOHA:TS-2060|AAO:0010482|BAMS:ETh|EFO:0000918|BAMS:EpT|BIRNLEX:1710|BM:Die-Epi|BTO:0000175|VHOG:0000178|HBA:4520|OpenCyc:Mx4rvneLQpwpEbGdrcN5Y29ycA|EHDAA2:0000448|GAID:455|EMAPA:17532|MBA:958|PBA:128013147|FMA:62009|NCIT:C12457|MESH:D019261 hp.json epithalamus|ETh http://purl.obolibrary.org/obo/UBERON_0001899 pheno_slim|efo_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0001898 biolink:AnatomicalEntity hypothalamus A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia]. BIRNLEX:734|EHDAA:5446|ZFA:0000032|GAID:460|galen:Hypothalamus|MAT:0000112|MA:0000173|TAO:0000032|AAO:0010484|BAMS:HY|BAMS:Hy|CALOHA:TS-0469|MIAA:0000112|UMLS:C0020663|VHOG:0000179|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=292|EMAPA:17536|EHDAA2:0000802|XAO:0004070|HBA:4540|UMLS:C0020663|DHBA:10467|MESH:D007031|BM:Die-Hy|NCIT:C12458|BTO:0000614|EFO:0000107|FMA:62008|OpenCyc:Mx4rwEgr9JwpEbGdrcN5Y29ycA|EV:0100225|MBA:1097 hp.json preoptico-hypothalamic region|hypothalamus|preoptico-hypothalamic area|Hy http://purl.obolibrary.org/obo/UBERON_0001898 pheno_slim|efo_slim|human_reference_atlas|uberon_slim|vertebrate_core HP:0031034 biolink:PhenotypicFeature Abnormal insulin like growth factor binding protein acid labile subunit level A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. hp.json http://purl.obolibrary.org/obo/HP_0031034 HP:0033697 biolink:PhenotypicFeature Vesicular eruption A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic. hp.json http://purl.obolibrary.org/obo/HP_0033697 HP:0033696 biolink:PhenotypicFeature Pseudo-chilblain Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet. hp.json Chilblain-like lesion http://purl.obolibrary.org/obo/HP_0033696 UBERON:0011220 biolink:AnatomicalEntity mastoid process of temporal bone The mastoid process is a conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. It is located just behind the external acoustic meatus, and lateral to the styloid process. Its size and form vary somewhat; it is larger in the male than in the female. This process serves for the attachment of the posterior belly of the digastric, sternocleidomastoid, splenius capitis, and longissimus capitis muscles. The word is derived from the Greek 'masto-', alluding to its resemblance to the breast. FMA:52872|UMLS:C0446908|NCIT:C12503 hp.json mastoid|mastoid process|processus mastoideus ossis temporalis|mastoid process of skull http://purl.obolibrary.org/obo/UBERON_0011220 pheno_slim HP:0031035 biolink:PhenotypicFeature Chronic infection Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. hp.json http://purl.obolibrary.org/obo/HP_0031035 HP:0033699 biolink:PhenotypicFeature Polymorphic vesicular eruption A type of vesicular eruption in which the vesicles are at different stages. hp.json http://purl.obolibrary.org/obo/HP_0033699 HP:0031036 biolink:PhenotypicFeature Reduced growth-hormone binding protein level A decreased blood concentration of growth hormone binding protein. hp.json Decreased plasma GH-binding protein http://purl.obolibrary.org/obo/HP_0031036 HP:0033698 biolink:PhenotypicFeature Monomorphic vesicular eruption A type of vesicular eruption in which the vesicles are at same stages. hp.json http://purl.obolibrary.org/obo/HP_0033698 HP:0031037 biolink:PhenotypicFeature Reduced insulin-like factor 3 level Blood concentration of insulin-like factor 3 (ILF3) is below normal limits. hp.json Reduced plasma INSL3 level http://purl.obolibrary.org/obo/HP_0031037 HP:0033693 biolink:PhenotypicFeature Phantosmia Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor. hp.json Phantom odor|Phantom smell|Olfactory hallucination|Phantom odour http://purl.obolibrary.org/obo/HP_0033693 HP:0031030 biolink:PhenotypicFeature Elevated carcinoma antigen 125 level An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer. hp.json Increased plasma CA125 http://purl.obolibrary.org/obo/HP_0031030 HP:0033692 biolink:PhenotypicFeature Declarative memory loss Impaired ability to remember facts and events. hp.json Impaired declarative memory http://purl.obolibrary.org/obo/HP_0033692 HP:0031031 biolink:PhenotypicFeature Abnormal retinol-binding protein level A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol. hp.json http://purl.obolibrary.org/obo/HP_0031031 HP:0033695 biolink:PhenotypicFeature Occupational disability This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities. hp.json http://purl.obolibrary.org/obo/HP_0033695 HP:0031032 biolink:PhenotypicFeature Decreased retinol-binding protein level A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity. hp.json http://purl.obolibrary.org/obo/HP_0031032 UBERON:0011222 biolink:AnatomicalEntity intra-ocular muscle EMAPA:18808|FMA:49150|AAO:0010038 hp.json intrinsic muscle of eyeball|intrinsic ocular muscle http://purl.obolibrary.org/obo/UBERON_0011222 HP:0033694 biolink:PhenotypicFeature Tactile hallucination The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object. hp.json Tactile hallucinations http://purl.obolibrary.org/obo/HP_0033694 HP:0031033 biolink:PhenotypicFeature Impaired urinary acidification The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. hp.json Renal acidification defect http://purl.obolibrary.org/obo/HP_0031033 CHEBI:36237 biolink:ChemicalSubstance cholanic acid A steroid acid that consists of cholane having a carboxy group in place of the methyl group at position 24. Reaxys:13246008|Patent:JP2008069152|CAS:25312-65-6 hp.json cholan-24-oic acid http://purl.obolibrary.org/obo/CHEBI_36237 3_STAR UBERON:0011216 biolink:AnatomicalEntity organ system subdivision A subdivision of an anatomical system. FMA:67509|SCTID:91690000|FBbt:00007330 hp.json http://purl.obolibrary.org/obo/UBERON_0011216 upper_level UBERON:0011215 biolink:AnatomicalEntity central nervous system cell part cluster A multi cell part structure that is part of a central nervous system. FMA:83143 hp.json cell part cluster of neuraxis|neuraxis layer http://purl.obolibrary.org/obo/UBERON_0011215 upper_level HP:0031038 biolink:PhenotypicFeature Spermatogenesis maturation arrest Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. hp.json Meiotic maturation arrest of spermatogenesis http://purl.obolibrary.org/obo/HP_0031038 HP:0031039 biolink:PhenotypicFeature Early spermatogenesis maturation arrest A type of maturation arrest in which only spermatogonia or spermatocytes are found. hp.json Spermatocytic arrest http://purl.obolibrary.org/obo/HP_0031039 GO:0120186 biolink:BiologicalProcess negative regulation of protein localization to chromatin Any process that stops, prevents, or reduces the frequency, rate or extent of protein localization to chromatin. hp.json negative regulation of protein localisation to chromatin http://purl.obolibrary.org/obo/GO_0120186 CHEBI:36238 biolink:ChemicalSubstance 5beta-cholanic acid Beilstein:3214794|LIPID_MAPS_instance:LMST04010441|CAS:546-18-9 hp.json 5beta-cholanoic acid|ursocholanic acid|(5beta,17beta)-gamma-methylandrostane-17-butanoic acid|5beta-cholan-24-oic acid|(5beta)-cholan-24-oic acid|5beta-cholanic acid http://purl.obolibrary.org/obo/CHEBI_36238 3_STAR GO:0120187 biolink:BiologicalProcess positive regulation of protein localization to chromatin Any process that activates or increases the frequency, rate or extent of protein localization to chromatin. hp.json positive regulation of protein localisation to chromatin http://purl.obolibrary.org/obo/GO_0120187 HP:0006067 biolink:PhenotypicFeature Multiple carpal ossification centers A delay in the process of formation and maturation of the epiphysis of one or more long bones. UMLS:C1835573 hp.json Multiple carpal ossification centres http://purl.obolibrary.org/obo/HP_0006067 HP:0006069 biolink:PhenotypicFeature obsolete Severe carpal ossification delay hp.json http://purl.obolibrary.org/obo/HP_0006069 PR:000001833 biolink:Protein SLAM family member 1 A protein that is a translation product of the human SLAMF1 gene or a 1:1 ortholog thereof. PANTHER:PTHR12080:SF1 hp.json SLAMF1|IPO-3|CD150|SLAM|CDw150 http://purl.obolibrary.org/obo/PR_000001833 PR:000001836 biolink:Protein CD7 molecule A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. PIRSF:PIRSF038791 hp.json T-cell leukemia antigen|T-cell antigen CD7|T-cell surface antigen Leu-9|TP41|CD7|GP40 http://purl.obolibrary.org/obo/PR_000001836 CHEBI:36233 biolink:ChemicalSubstance disaccharide A compound in which two monosaccharides are joined by a glycosidic bond. KEGG:C01911 hp.json disaccharides|Disaccharide|Disacharid|disacarido|disacaridos|Disaccharid http://purl.obolibrary.org/obo/CHEBI_36233 3_STAR HP:0006064 biolink:PhenotypicFeature Limited interphalangeal movement UMLS:C1840089 hp.json Limited movement of hinge joints http://purl.obolibrary.org/obo/HP_0006064 PR:000001809 biolink:Protein CD59-like glycoprotein A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. PIRSF:PIRSF038782 hp.json CD59-like http://purl.obolibrary.org/obo/PR_000001809 HP:0031040 biolink:PhenotypicFeature Late spermatogenesis maturation arrest A type of maturation arrest in which spermatids are detected without spermatozoa. hp.json Maturation arrest of spermatogenesis at spermatid stage http://purl.obolibrary.org/obo/HP_0031040 HP:0006040 biolink:PhenotypicFeature Long second metacarpal UMLS:C1861531 hp.json Long 2nd long bone of hand http://purl.obolibrary.org/obo/HP_0006040 UBERON:0001887 biolink:AnatomicalEntity internal capsule of telencephalon White matter regional part of brain which is flanked by nuclear masses, consisting of both afferent and efferent fibers projecting between the cerebral cortex and the brainstem and spinal cord. It consists of three distinct parts: an anterior limb, posterior limb, and genu. (Adapted from MSH by Maryann Martone). UMLS:C0152341|MESH:D020772|BAMS:int|FMA:61950|HBA:9263|PBA:10102|BM:IC|DMBA:17770|MBA:6|DHBA:10581|BIRNLEX:1659|EMAPA:35437|UMLS:C0152341|MA:0002748|EMAPA:18206|NCIT:C13082|BAMS:ic|GAID:685 hp.json internal capsule|internal capsule radiations|brain internal capsule|capsula interna http://purl.obolibrary.org/obo/UBERON_0001887 pheno_slim|uberon_slim UBERON:0001889 biolink:AnatomicalEntity trunk of phrenic nerve FMA:6198|MA:0001177|EHDAA2:0001463|EMAPA:37718 hp.json phrenic nerve trunk|phrenic neural trunk http://purl.obolibrary.org/obo/UBERON_0001889 HP:0031045 biolink:PhenotypicFeature Acral blistering Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet). hp.json http://purl.obolibrary.org/obo/HP_0031045 HP:0031046 biolink:PhenotypicFeature Absent soft palate A developmental defect characterized by lack of a soft palate. hp.json Agenesis of the soft palate http://purl.obolibrary.org/obo/HP_0031046 NCBITaxon:131221 biolink:OrganismalEntity Streptophytina GC_ID:1 hp.json Charophyta/Embryophyta group|charophyte/embryophyte group http://purl.obolibrary.org/obo/NCBITaxon_131221 HP:0031047 biolink:PhenotypicFeature Paraproteinemia An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. hp.json Monoclonal hypergammaglobulinemia http://purl.obolibrary.org/obo/HP_0031047 HP:0031048 biolink:PhenotypicFeature Light-chain paraproteinemia An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp.json http://purl.obolibrary.org/obo/HP_0031048 HP:0031041 biolink:PhenotypicFeature Obstruction of the superior vena cava Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction. hp.json Superior vena cava obstruction|Superior vena cava syndrome http://purl.obolibrary.org/obo/HP_0031041 HP:0031042 biolink:PhenotypicFeature Strawberry tongue Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. hp.json Raspberry tongue http://purl.obolibrary.org/obo/HP_0031042 HP:0031043 biolink:PhenotypicFeature Type A4 brachydactyly A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. hp.json http://purl.obolibrary.org/obo/HP_0031043 HP:0031044 biolink:PhenotypicFeature Type A5 brachydactyly A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. hp.json http://purl.obolibrary.org/obo/HP_0031044 HP:0031049 biolink:PhenotypicFeature Heavy-chain paraproteinemia An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp.json http://purl.obolibrary.org/obo/HP_0031049 CHEBI:38867 biolink:ChemicalSubstance anaesthetic Substance which produces loss of feeling or sensation. hp.json anaesthetics|anaesthetic|Anaesthetikum|anesthetic agent|anesthetics|Anaesthetika|anesthetic drug http://purl.obolibrary.org/obo/CHEBI_38867 3_STAR UBERON:0001895 biolink:AnatomicalEntity metencephalon Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. MA:0000197|EHDAA:5498|BAMS:Met|HBA:4833|FMA:62003|Wikipedia:Metencephalon|BTO:0000673|VHOG:0000741|EMAPA:17071|CALOHA:TS-2029|DHBA:10655|UMLS:C1516904|UMLS:C0376353|EHDAA2:0001149|NCIT:C32741|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=543|GAID:594|BIRNLEX:965|MESH:D020540 hp.json epencephalon|epencephalon-2 http://purl.obolibrary.org/obo/UBERON_0001895 pheno_slim|uberon_slim HP:0008697 biolink:PhenotypicFeature Hypoplasia of the fallopian tube Developmental hypoplasia of the fallopian tube. UMLS:C1968706 hp.json Rudimentary fallopian tubes|Underdeveloped fallopian tube http://purl.obolibrary.org/obo/HP_0008697 UBERON:0001894 biolink:AnatomicalEntity diencephalon The division of the forebrain that develops from the foremost primary cerebral vesicle. PBA:128013010|GAID:618|MESH:D004027|MAT:0000420|EHDAA2:0000385|FMA:62001|MA:0000171|EHDAA:3472|BIRNLEX:1503|Wikipedia:Diencephalon|MBA:1129|BTO:0000342|EHDAA:1969|DMBA:16308|MIAA:0000420|UMLS:C0012144|AAO:0010481|UMLS:C0012144|EV:0100194|OpenCyc:Mx4rwC-V0JwpEbGdrcN5Y29ycA|SCTID:279328001|BM:Die|EMAPA:16896|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=288|CALOHA:TS-0199|BAMS:IB|EHDAA:2645|XAO:0000013|DHBA:10389|ZFA:0000101|EFO:0000911|NCIT:C12456|BAMS:Zh.|BAMS:DiE|VHOG:0000318|TAO:0000101|HBA:4391|BAMS:Di|BAMS:DI hp.json diencephalon|mature diencephalon|betweenbrain|DiE|interbrain|thalamencephalon|diencephalon|between brain http://purl.obolibrary.org/obo/UBERON_0001894 pheno_slim|efo_slim|uberon_slim|vertebrate_core HP:0006035 biolink:PhenotypicFeature Cone-shaped epiphyses of phalanges 2 to 5 UMLS:C1857005 hp.json Cone-shaped end part of digital bones 2 to 5 http://purl.obolibrary.org/obo/HP_0006035 HP:0008696 biolink:PhenotypicFeature Renal hamartoma A disordered proliferation of mature tissues that are native to the kidneys. UMLS:C1840396 hp.json http://purl.obolibrary.org/obo/HP_0008696 UBERON:0001897 biolink:AnatomicalEntity dorsal plus ventral thalamus Subcortical brain region consisting of paired gray matter bodies in the dorsal diencephalon and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.(MeSH). The dorsal topographic division of the interbrain. The macrodissected adult human thalamus was clearly illustrated by Vesalius in 1543 and the term as defined here was introduced by His in 1893. It includes the traditional epithalamus, dorsal thalamus, and ventral thalamus of Herrick (1910, pp. 494, 498). Also see Kuhlenbeck (1927, Ch. 9) and Jones (1985, p. 87). BIRNLEX:954|BAMS:Th|BAMS:TH|galen:Thalamus|VHOG:0000657|OpenCyc:Mx4rwMPQ65wpEbGdrcN5Y29ycA|UMLS:C0039729|AAO:0010483|UMLS:C0039729|BTO:0001365|DHBA:10390|EV:0100195|GAID:656|ZFA:0001215|MAT:0000109|NCIT:C12459|MA:0000179|PBA:128013014|TAO:0001215|MBA:549|MIAA:0000109|EFO:0000910|CALOHA:TS-1031|EMAPA:17540|HBA:4392|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=300|DMBA:16376 hp.json wider thalamus|thalamus|thalamencephalon|Th|thalamus opticus|thalami http://purl.obolibrary.org/obo/UBERON_0001897 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0001896 biolink:AnatomicalEntity medulla oblongata Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. MAT:0000367|EMAPA:17550|VHOG:0000181|XAO:0003100|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=698|SCTID:279104005|NCIT:C12442|FMA:62004|MESH:D008526|AAO:0010486|DMBA:17352|GAID:590|EHDAA:7588|MAT:0000111|UMLS:C0025148|BM:Me|OpenCyc:Mx4rvVjxSJwpEbGdrcN5Y29ycA|EHDAA2:0001088|EV:0100275|MBA:354|Wikipedia:Bone_marrow_of_ovary_oblongata|MIAA:0000111|MA:0000206|BAMS:MY|ZFA:0000545|BTO:0000041|EFO:0000924|TAO:0000545|UMLS:C0025148|BIRNLEX:957|OpenCyc:Mx4rwCqnXJwpEbGdrcN5Y29ycA|BAMS:Md|CALOHA:TS-0607|UMLS:C1269575 hp.json medulla|metepencephalon|bulbus|medulla oblonzata|bulb|medulla oblonzata http://purl.obolibrary.org/obo/UBERON_0001896 pheno_slim|efo_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0001891 biolink:AnatomicalEntity midbrain The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. EHDAA:3694|MBA:313|EV:0100242|BAMS:MES|EFO:0000919|DMBA:16649|BM:MB|DHBA:10648|BIRNLEX:1667|MA:0000207|EHDAA2:0001162|VHOG:0000069|ZFA:0000128|SCTID:279099009|EMAPA:16974|Wikipedia:Midbrain|UMLS:C0025462|CALOHA:TS-0630|UMLS:C0025462|RETIRED_EHDAA2:0001104|OpenCyc:Mx4rvsBUqpwpEbGdrcN5Y29ycA|XAO:0000014|TAO:0000128|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=462|MAT:0000106|AAO:0010149|HBA:9001|NCIT:C12510|BTO:0000138|MIAA:0000106|MESH:D008636|FMA:61993 hp.json mesencephalon|mesencephalon|MB http://purl.obolibrary.org/obo/UBERON_0001891 pheno_slim|efo_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0001890 biolink:AnatomicalEntity forebrain The most anterior region of the brain including both the telencephalon and diencephalon. FMA:61992|Wikipedia:Forebrain|EFO:0000909|BAMS:Forebrain|ZFA:0000109|MA:0000170|EHDAA:3470|TAO:0000109|BAMS:FB|UMLS:C0085140|DMBA:15566|EMAPA:16895|VHOG:0000383|UMLS:C0085140|EHDAA2:0000556|SCTID:362291003|MAT:0000105|DHBA:10156|XAO:0000011|MESH:D016548|BIRNLEX:1509|AAO:0010147|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=27|NCIT:C40185|CALOHA:TS-0380|MIAA:0000105|BTO:0000478 hp.json prosencephalon|FB http://purl.obolibrary.org/obo/UBERON_0001890 efo_slim|human_reference_atlas|uberon_slim|vertebrate_core|pheno_slim UBERON:0001893 biolink:AnatomicalEntity telencephalon Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres. SCTID:263353005|MBA:567|HBA:4007|EV:0100165|MA:0000183|BAMS:Tel|Wikipedia:Telencephalon|MIAA:0000421|BAMS:CB|FMA:62000|CALOHA:TS-1018|EMAPA:16910|BIRNLEX:1115|BAMS:IV|UMLS:C0039452|GAID:621|EFO:0000912|DHBA:10158|VHOG:0000283|XAO:0000012|ZFA:0000079|BM:Tel|AAO:0010479|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=31|BTO:0000239|PBA:128011350|BAMS:CH|MESH:D013687|TAO:0000079|MAT:0000421|EHDAA2:0001982 hp.json supratentorial region|endbrain|endbrain|supratentorial region|cerebrum|cerebrum http://purl.obolibrary.org/obo/UBERON_0001893 pheno_slim|efo_slim|uberon_slim|vertebrate_core HP:0008695 biolink:PhenotypicFeature Transient nephrotic syndrome UMLS:C4024638 hp.json Transient nephrosis http://purl.obolibrary.org/obo/HP_0008695 UBERON:0001892 biolink:AnatomicalEntity rhombomere A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure.[WP]. FMA:295666|ZFA:0001064|RETIRED_EHDAA2:0000669|TAO:0001064|MAT:0000272|VHOG:0000672|EMAPA:16148|MIAA:0000272|Wikipedia:Rhombomere|EFO:0003617|DHBA:12664|XAO:0004079 hp.json hindbrain neuromere|rhombomeres|segment of hindbrain|hindbrain segment|hindbrain neuromeres|future rhombencephalon|rhombomere http://purl.obolibrary.org/obo/UBERON_0001892 pheno_slim|efo_slim|uberon_slim|vertebrate_core HP:0008694 biolink:PhenotypicFeature obsolete Hypertrophic labia minora hp.json http://purl.obolibrary.org/obo/HP_0008694 HP:0031050 biolink:PhenotypicFeature Whole-immunoglobulin paraproteinemia An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp.json http://purl.obolibrary.org/obo/HP_0031050 IAO:0100001 biolink:NamedThing term replaced by hp.json http://purl.obolibrary.org/obo/IAO_0100001 HP:0031051 biolink:PhenotypicFeature Tarsal sclerosis An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp.json http://purl.obolibrary.org/obo/HP_0031051 HP:0006051 biolink:PhenotypicFeature Metacarpal periosteal thickening UMLS:C1834347 hp.json http://purl.obolibrary.org/obo/HP_0006051 HP:0031056 biolink:PhenotypicFeature Fusiform cerebral aneurysm A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery. hp.json Intracranial fusiform aneurysm http://purl.obolibrary.org/obo/HP_0031056 HP:0031057 biolink:PhenotypicFeature Skin fissure A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis. hp.json Cracked skin http://purl.obolibrary.org/obo/HP_0031057 HP:0031058 biolink:PhenotypicFeature Impairment of activities of daily living Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. hp.json http://purl.obolibrary.org/obo/HP_0031058 HP:0031059 biolink:PhenotypicFeature Impaired ability to bathe oneself This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing. hp.json http://purl.obolibrary.org/obo/HP_0031059 UBERON:0011203 biolink:AnatomicalEntity urachus mesenchyme Mesenchyme that is part of a developing urachus. EHDAA2:0004726 hp.json http://purl.obolibrary.org/obo/UBERON_0011203 HP:0031052 biolink:PhenotypicFeature Elevated vascular endothelial growth factor level Increased blood concentration of vascular endothelial growth factor (VEGF). hp.json Elevated circulating VEGF concentration http://purl.obolibrary.org/obo/HP_0031052 UBERON:0011202 biolink:AnatomicalEntity urachus epithelium An epithelium that is part of a urachus. EHDAA2:0004725|NCIT:C54210|UMLS:C1711256 hp.json http://purl.obolibrary.org/obo/UBERON_0011202 HP:0031053 biolink:PhenotypicFeature Coarctation in the transverse aortic arch Narrowing or constriction of the aorta localized to the region of the transverse aortic arch. hp.json http://purl.obolibrary.org/obo/HP_0031053 UBERON:0011201 biolink:AnatomicalEntity muscle layer of small intestine A muscle layer that is part of a small intestine. FMA:14932|UMLS:C0227269|NCIT:C33569 hp.json small intestine muscularis propria|tunica muscularis (intestinum tenue)|muscularis externa of small intestine|muscular coat of small intestine|muscular layer of small intestine|tunica muscularis intestini tenuis http://purl.obolibrary.org/obo/UBERON_0011201 HP:0031054 biolink:PhenotypicFeature Long segment coarctation of the aorta Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta. hp.json http://purl.obolibrary.org/obo/HP_0031054 UBERON:0011200 biolink:AnatomicalEntity sacrococcygeal symphysis The sacrococcygeal symphysis (sacrococcygeal articulation, articulation of the sacrum and coccyx) is an amphiarthrodial joint, formed between the oval surface at the apex of the sacrum, and the base of the coccyx. It is a slightly moveable joint which is frequently, partially or completely, obliterated in old age, homologous with the joints between the bodies of the vertebrae. FMA:16210|NCIT:C33506|UMLS:C0224593 hp.json sacrococcygeal joint|sacrococcygeal joint http://purl.obolibrary.org/obo/UBERON_0011200 HP:0031055 biolink:PhenotypicFeature Abnormal branching pattern of left aortic arch A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch). hp.json http://purl.obolibrary.org/obo/HP_0031055 UBERON:0035237 biolink:AnatomicalEntity branch of internal carotid artery NCIT:C32837|FMA:70506|SCTID:360629008|UMLS:C1182571 hp.json subdivision of internal carotid artery|internal carotid arterial subdivision http://purl.obolibrary.org/obo/UBERON_0035237 UBERON:0001884 biolink:AnatomicalEntity phrenic nerve A nerve that arises from the caudal cervical nerves and is primarily the motor nerve of the diaphragm but also sends sensory fibers to the pericardium. UMLS:C0031774|EHDAA:4677|GAID:848|MESH:D010791|SCTID:280344009|Wikipedia:Phrenic_nerve|NCIT:C52813|EMAPA:17813|FMA:6191|MA:0001170|BAMS:phn|BTO:0001063|VHOG:0000728|OpenCyc:Mx4rvtmdUJwpEbGdrcN5Y29ycA hp.json phrenic|nervus phrenicus|nervus phrenicus|nervus phrenicus|diaphragmatic nerve http://purl.obolibrary.org/obo/UBERON_0001884 pheno_slim|human_reference_atlas|uberon_slim PR:000001810 biolink:Protein CSF-1/PDGF receptor-type tyrosine-protein kinase A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. PIRSF:PIRSF000615 hp.json http://purl.obolibrary.org/obo/PR_000001810 HP:0006045 biolink:PhenotypicFeature Short pointed phalanges UMLS:C1849740 hp.json Short pointed digital bones http://purl.obolibrary.org/obo/HP_0006045 UBERON:0001886 biolink:AnatomicalEntity choroid plexus A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces. MBA:108|MESH:D002831|TAO:0001443|BAMS:GHP|UMLS:C0008524|BTO:0000258|GAID:607|NCIT:C12694|BAMS:chpl|BAMS:chp|BAMS:CHP|EMAPA:32741|MA:0000823|VHOG:0001377|EFO:0001915|CALOHA:TS-0145|FMA:61934|ZFA:0001443 hp.json plexus choroideus|chorioid plexus|CP|ventricular choroid plexus|plexus choroideus|choroid plexus of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0001886 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0001885 biolink:AnatomicalEntity dentate gyrus of hippocampal formation Part of the hippocampal formation forming a 'V' or 'U' shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer. UMLS:C0152314|BTO:0002615|NCIT:C32452|DHBA:10295|BAMS:DG|EFO:0001366|BM:Tel-DG|GAID:624|MA:0000190|BTO:0002496|MESH:D018891|CALOHA:TS-2388|BIRNLEX:1178|FMA:61922|DMBA:16115|MBA:726|EMAPA:19037|HBA:12891 hp.json gyrus dentatus|dentate gyrus|dentate area|gyrus dentatus|area dentata|dentate area (dentate gyrus)|fascia dentata|hippocampal dentate gyrus http://purl.obolibrary.org/obo/UBERON_0001885 pheno_slim|efo_slim|uberon_slim HP:0006048 biolink:PhenotypicFeature Distal widening of metacarpals Abnormal increase in width of the distal region of the metacarpal bones. UMLS:C1865254 hp.json Wide outermost end of long bone http://purl.obolibrary.org/obo/HP_0006048 HP:0006042 biolink:PhenotypicFeature Y-shaped metacarpals Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. UMLS:C1861373 hp.json Y-shaped long bone of hand http://purl.obolibrary.org/obo/HP_0006042 UBERON:0011272 biolink:AnatomicalEntity embryonic skin basal layer EHDAA2:0001845 hp.json outer epithelium of body|basal cell layer of skin http://purl.obolibrary.org/obo/UBERON_0011272 UBERON:0011270 biolink:AnatomicalEntity dorsal trunk The part of the trunk that is in the dorsum[cjm]. FMA:25056|Wikipedia:Human_back|EMAPA:35162|MA:0000020 hp.json dorsal part of trunk|dorsum of trunk|back of trunk|trunk back http://purl.obolibrary.org/obo/UBERON_0011270 HP:0033642 biolink:PhenotypicFeature Mitral valve leaflet calcification Deposition of calcium salts in the leaflets (cusps) of the mitral valve. hp.json http://purl.obolibrary.org/obo/HP_0033642 UBERON:0011276 biolink:AnatomicalEntity nail of manual digit 4 A nail that is part of a manual digit 4. FMA:54338|EMAPA:18737 hp.json nail of ring finger|nail plate of ring finger|nail of fourth finger|nail of manual digit IV|ring finger nail|claw of digit 4 of fore-paw http://purl.obolibrary.org/obo/UBERON_0011276 UBERON:0011275 biolink:AnatomicalEntity nail of manual digit 3 A nail that is part of a manual digit 3. FMA:54335|EMAPA:18736 hp.json nail of middle finger|middle finger nail|nail of third finger|nail plate of middle finger|nail of manual digit III|claw of digit 3 of fore-paw http://purl.obolibrary.org/obo/UBERON_0011275 HP:0033641 biolink:PhenotypicFeature Aortic valve leaflet calcification Deposition of calcium salts in the leaflets (cusps) of the aortic valve. hp.json Aortic cusp calcification|Aortic valve cusp calcification http://purl.obolibrary.org/obo/HP_0033641 UBERON:0011274 biolink:AnatomicalEntity nail of manual digit 2 A nail that is part of a manual digit 2. FMA:54332|EMAPA:18735 hp.json index finger nail|nail plate of index finger|nail of manual digit II|claw of digit 2 of fore-paw|nail of second finger|nail of index finger http://purl.obolibrary.org/obo/UBERON_0011274 HP:0033644 biolink:PhenotypicFeature Elevated circulating erythropoietin concentration Increased amount of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. hp.json Elevated circulating erythropoietin http://purl.obolibrary.org/obo/HP_0033644 UBERON:0011273 biolink:AnatomicalEntity nail of manual digit 1 A nail that is part of a manual digit 1. FMA:54329|EMAPA:18734 hp.json nail of thumb|nail of manual digit I|nail plate of thumb|thumb nail|claw of digit 1 of fore-paw http://purl.obolibrary.org/obo/UBERON_0011273 pheno_slim HP:0033643 biolink:PhenotypicFeature Increased circulating very long-chain fatty acid concentration Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons. hp.json Increased plasma levels of very long-chain fatty acid http://purl.obolibrary.org/obo/HP_0033643 UBERON:0011279 biolink:AnatomicalEntity nail of pedal digit 2 A nail that is part of a pedal digit 2. EMAPA:18740|FMA:54347 hp.json second toe nail|nail plate of second toe|nail of second toe|claw of digit 2 of hind-paw|nail of pedal digit II http://purl.obolibrary.org/obo/UBERON_0011279 UBERON:0011278 biolink:AnatomicalEntity nail of pedal digit 1 A nail that is part of a pedal digit 1. EMAPA:18739|FMA:54344 hp.json nail of first toe|nail plate of big toe|nail of pedal digit I|claw of digit 1 of hind-paw|big toe nail|nail of big toe|nail of great toe http://purl.obolibrary.org/obo/UBERON_0011278 pheno_slim HP:0033640 biolink:PhenotypicFeature Acetabular erosions Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint. hp.json http://purl.obolibrary.org/obo/HP_0033640 UBERON:0011277 biolink:AnatomicalEntity nail of manual digit 5 A nail that is part of a manual digit 5. FMA:54341|EMAPA:18738 hp.json nail of fifth finger|nail of little finger|nail plate of little finger|claw of digit 5 of fore-paw|nail of manual digit V|little finger nail http://purl.obolibrary.org/obo/UBERON_0011277 pheno_slim HP:0033649 biolink:PhenotypicFeature Paraseptal emphysema Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae. hp.json Distal acinar emphysema http://purl.obolibrary.org/obo/HP_0033649 HP:0033646 biolink:PhenotypicFeature Absent hippocampal commissure Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum. hp.json Agenesis of the hippocampal commissure http://purl.obolibrary.org/obo/HP_0033646 HP:0033645 biolink:PhenotypicFeature Midline brainstem cleft A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons. hp.json http://purl.obolibrary.org/obo/HP_0033645 HP:0033648 biolink:PhenotypicFeature Pulmonary pseudocavity A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia. hp.json http://purl.obolibrary.org/obo/HP_0033648 HP:0033647 biolink:PhenotypicFeature Silhouette sign The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette. hp.json http://purl.obolibrary.org/obo/HP_0033647 PR:000001865 biolink:Protein interleukin-3 receptor class 2 alpha chain A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. IUPHARobj:1705 hp.json Sut-1|IL-3R subunit alpha|IL-3R-alpha|IL-3RA|IL3R|IL-3 receptor subunit alpha|CD123|interleukin-3 receptor class II alpha chain|IL3RA http://purl.obolibrary.org/obo/PR_000001865 PR:000001867 biolink:Protein interleukin-5 receptor subunit alpha A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. IUPHARobj:1706|PIRSF:PIRSF018419 hp.json CDw125|IL-5RA|IL-5R subunit alpha|IL-5R-alpha|IL5R|CD125|IL-5 receptor subunit alpha|IL5RA http://purl.obolibrary.org/obo/PR_000001867 PR:000001869 biolink:Protein interleukin-7 receptor subunit alpha A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. IUPHARobj:1698|PIRSF:PIRSF001960 hp.json CDw127|IL7R|IL-7RA|IL-7R subunit alpha|IL-7R-alpha|CD127|IL-7 receptor subunit alpha http://purl.obolibrary.org/obo/PR_000001869 HP:0006097 biolink:PhenotypicFeature 3-4 finger syndactyly Syndactyly with fusion of fingers three and four. UMLS:C1856889 hp.json Webbed 3rd-4th fingers|Webbed 3rd-4th finger|Partial or complete syndactyly 3rd-4th fingers http://purl.obolibrary.org/obo/HP_0006097 HP:0006099 biolink:PhenotypicFeature Metacarpophalangeal joint hyperextensibility Increased mobility of one ore more metacarpophalangeal joint. UMLS:C4025092 hp.json http://purl.obolibrary.org/obo/HP_0006099 CHEBI:26878 biolink:ChemicalSubstance tertiary alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. hp.json tertiary alcohol|tertiary alcohols http://purl.obolibrary.org/obo/CHEBI_26878 3_STAR CHEBI:26873 biolink:ChemicalSubstance terpenoid Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group. Wikipedia:Terpenoid hp.json terpenoide|terpenoids|terpenoides|Terpenoid http://purl.obolibrary.org/obo/CHEBI_26873 3_STAR HP:0033653 biolink:PhenotypicFeature Bronchocele A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion. hp.json http://purl.obolibrary.org/obo/HP_0033653 UBERON:0011265 biolink:AnatomicalEntity carpometacarpal joint of digit 1 A carpometacarpal joint that connects to metacarpal 1. FMA:35421 hp.json carpometacarpal joint of digit I|trapeziometacarpal joint|TMJ|carpometacarpal joint of the thumb|carpometacarpal joint of pollex|carpometacarpal joint of thumb http://purl.obolibrary.org/obo/UBERON_0011265 pheno_slim HP:0033652 biolink:PhenotypicFeature Broncholith A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis hp.json http://purl.obolibrary.org/obo/HP_0033652 HP:0033655 biolink:PhenotypicFeature Pulmonary cavity A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick. hp.json Pulmonary cavern http://purl.obolibrary.org/obo/HP_0033655 HP:0033654 biolink:PhenotypicFeature Beaded septum sign Irregular and nodular thickening of interlobular septa reminiscent of a row of beads. hp.json http://purl.obolibrary.org/obo/HP_0033654 HP:0033651 biolink:PhenotypicFeature Pulmonary mycetoma A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma. hp.json Lung fungus ball http://purl.obolibrary.org/obo/HP_0033651 HP:0033650 biolink:PhenotypicFeature Pulmonary parenchymal band A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos. hp.json http://purl.obolibrary.org/obo/HP_0033650 HP:0033657 biolink:PhenotypicFeature Linear atelectasis Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm. hp.json Platelike atelectasis|Discoid atelectasis http://purl.obolibrary.org/obo/HP_0033657 HP:0033656 biolink:PhenotypicFeature Juxtaphrenic peak A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament. hp.json http://purl.obolibrary.org/obo/HP_0033656 PR:000001874 biolink:Protein KLRB1-like protein A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. PIRSF:PIRSF038804 hp.json http://purl.obolibrary.org/obo/PR_000001874 HP:0033659 biolink:PhenotypicFeature obsolete Crazy-paving pattern hp.json http://purl.obolibrary.org/obo/HP_0033659 HP:0033658 biolink:PhenotypicFeature Rounded atelectasis Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung. hp.json Pleural pseudotumor|Blesovsky syndrome|Folded lung syndrome|Comet tail sign|Pleuroma|Helical atelectasis http://purl.obolibrary.org/obo/HP_0033658 CHEBI:38856 biolink:ChemicalSubstance halophenol hp.json halophenol|halophenols http://purl.obolibrary.org/obo/CHEBI_38856 3_STAR PR:000001879 biolink:Protein leukosialin A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. PIRSF:PIRSF001994 hp.json sialophorin|GALGP|B-cell differentiation antigen LP-3|leukocyte sialoglycoprotein|lymphocyte antigen 48|CD43|ly-48|galactoglycoprotein|SPN http://purl.obolibrary.org/obo/PR_000001879 HP:0200150 biolink:PhenotypicFeature Increased serum bile acid concentration during pregnancy UMLS:C4020695|UMLS:C4021882 hp.json Increased serum bile acid concentration during pregnancy, resolves http://purl.obolibrary.org/obo/HP_0200150 HP:0200154 biolink:PhenotypicFeature Agenesis of mandibular lateral incisor UMLS:C4280283|UMLS:C4021880 hp.json Absence of lower lateral incisor|Missing mandibular lateral incisor|Missing lower lateral incisor|Absence of mandibular lateral incisor|Failure of development of mandibular lateral incisor http://purl.obolibrary.org/obo/HP_0200154 UBERON:0011250 biolink:AnatomicalEntity autopod bone A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. hp.json http://purl.obolibrary.org/obo/UBERON_0011250 HP:0200153 biolink:PhenotypicFeature Agenesis of lateral incisor UMLS:C4021881|UMLS:C4227831 hp.json Failure of development of lateral incisor|Missing lateral incisor|Absence of lateral incisor http://purl.obolibrary.org/obo/HP_0200153 HP:0200151 biolink:PhenotypicFeature Cutaneous mastocytosis Multifocal dense infiltrates of mast cells in cutaneous tissue. SNOMEDCT_US:397012002|UMLS:C1136033|MSH:D034701|SNOMEDCT_US:703827008 hp.json http://purl.obolibrary.org/obo/HP_0200151 HP:0031001 biolink:PhenotypicFeature Minifascicle formation A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle. hp.json http://purl.obolibrary.org/obo/HP_0031001 HP:0200158 biolink:PhenotypicFeature Agenesis of permanent mandibular lateral incisor UMLS:C4280282|UMLS:C4021879 hp.json Absence of adult mandibular lateral incisor|Missing permanent mandibular lateral incisor|Absence of permanent mandibular lateral incisor|Failure of development of permanent mandibular lateral incisor|Missing adult lower lateral incisor http://purl.obolibrary.org/obo/HP_0200158 HP:0033664 biolink:PhenotypicFeature Ganglioglioma Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells. NCIT:C3788 hp.json http://purl.obolibrary.org/obo/HP_0033664 HP:0031002 biolink:PhenotypicFeature Neuritis Inflammation of a nerve. hp.json http://purl.obolibrary.org/obo/HP_0031002 HP:0033663 biolink:PhenotypicFeature Air trapping Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse. hp.json http://purl.obolibrary.org/obo/HP_0033663 HP:0033666 biolink:PhenotypicFeature Diminished physical functioning A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning. hp.json Diminished physical health|Decline in physical functional health http://purl.obolibrary.org/obo/HP_0033666 HP:0031003 biolink:PhenotypicFeature Polyneuritis Simulataneous inflammation of multiple nerves. hp.json Multiple neuritis http://purl.obolibrary.org/obo/HP_0031003 HP:0033665 biolink:PhenotypicFeature Diminished health-related quality of life A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles. hp.json http://purl.obolibrary.org/obo/HP_0033665 HP:0031004 biolink:PhenotypicFeature Hemiareflexia Areflexia that is limited to one side of the body. hp.json http://purl.obolibrary.org/obo/HP_0031004 HP:0033660 biolink:PhenotypicFeature Hand paresthesia Tingling (often refered to as a pins and needles feeling) and numbness in the hand. hp.json Hand tingling http://purl.obolibrary.org/obo/HP_0033660 HP:0033662 biolink:PhenotypicFeature Air bronchogram An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma). hp.json http://purl.obolibrary.org/obo/HP_0033662 HP:0031000 biolink:PhenotypicFeature Vestibular saccular degeneration Deterioration or loss of the tissues of the saccule of the vestibule. hp.json http://purl.obolibrary.org/obo/HP_0031000 HP:0200159 biolink:PhenotypicFeature Agenesis of primary mandibular lateral incisor UMLS:C4280281|UMLS:C4280280|UMLS:C4021878 hp.json Absence of deciduous mandibular lateral incisor|Failure of development of deciduous mandibular lateral incisor|Agenesis of deciduous mandibular lateral incisor|Absence of lower front baby tooth|Missing primary mandibular lateral incisor|Missing deciduous mandibular lateral incisor|Absence of primary mandibular lateral incisor|Failure of development of primary mandibular lateral incisor http://purl.obolibrary.org/obo/HP_0200159 HP:0033661 biolink:PhenotypicFeature Air crescent An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer. hp.json http://purl.obolibrary.org/obo/HP_0033661 HP:0031009 biolink:PhenotypicFeature Ainhum Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation. hp.json Dactylolysis spontanea http://purl.obolibrary.org/obo/HP_0031009 UBERON:0011249 biolink:AnatomicalEntity appendicular skeletal system Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. FMA:7484|VHOG:0001666|VSAO:0000306 hp.json http://purl.obolibrary.org/obo/UBERON_0011249 HP:0033668 biolink:PhenotypicFeature Abnormal amygdala morphology A structural anomaly of the amygdala. hp.json Abnormal morphology of the amygdala http://purl.obolibrary.org/obo/HP_0033668 HP:0031005 biolink:PhenotypicFeature obsolete Hyperalgesia hp.json http://purl.obolibrary.org/obo/HP_0031005 HP:0031006 biolink:PhenotypicFeature Acroparesthesia A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. hp.json http://purl.obolibrary.org/obo/HP_0031006 HP:0033667 biolink:PhenotypicFeature Diminished mental health A reduction in the subjective feeling of mental well being. hp.json Mental impairment|Reduced mental health http://purl.obolibrary.org/obo/HP_0033667 HP:0031007 biolink:PhenotypicFeature Orofacial action-specific dystonia induced by speech hp.json Jaw dystonia induced by speaking http://purl.obolibrary.org/obo/HP_0031007 HP:0033669 biolink:PhenotypicFeature Enlarged amygdala A increase in the volume (size) of the amygdyla. hp.json Amygdalar enlargement http://purl.obolibrary.org/obo/HP_0033669 HP:0031008 biolink:PhenotypicFeature Lingual dystonia Involuntary protrusions, movements, spams and contortions of the tongue. hp.json Tongue dystonia http://purl.obolibrary.org/obo/HP_0031008 PR:000001843 biolink:Protein Thy-1 membrane glycoprotein A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. PIRSF:PIRSF038777 hp.json Thy-1|CDw90|THY1|CD90|Thy-1 antigen http://purl.obolibrary.org/obo/PR_000001843 HP:0006077 biolink:PhenotypicFeature Absent proximal finger flexion creases Absence of the proximal interphalangeal flexion creases of the fingers. UMLS:C1850048 hp.json http://purl.obolibrary.org/obo/HP_0006077 HP:0006092 biolink:PhenotypicFeature Malaligned carpal bone Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). UMLS:C1856742 hp.json Incorrect alignment of wrist bone http://purl.obolibrary.org/obo/HP_0006092 HP:0200161 biolink:PhenotypicFeature Agenesis of mandibular incisor UMLS:C4021876|UMLS:C4280277|UMLS:C3150012 hp.json Missing lower front tooth|Absence of lower incisor|Absence of lower front tooth|Agenesis of lower incisor|Missing lower incisor|Failure of development of mandibular incisor|Absence of mandibular incisor http://purl.obolibrary.org/obo/HP_0200161 HP:0200160 biolink:PhenotypicFeature Agenesis of maxillary incisor UMLS:C4280279|UMLS:C4280278|UMLS:C4021877 hp.json Absence of maxillary incisor|Missing upper front tooth|Absence of upper front tooth|Failure of development of maxillary incisor|Missing upper incisor|Failure of development of upper incisor http://purl.obolibrary.org/obo/HP_0200160 HP:0006094 biolink:PhenotypicFeature Finger joint hypermobility UMLS:C0574974|SNOMEDCT_US:298193009 hp.json Increased mobility in finger joint http://purl.obolibrary.org/obo/HP_0006094 HP:0006095 biolink:PhenotypicFeature Wide tufts of distal phalanges UMLS:C1835101 hp.json Wide tips of outermost digital bone http://purl.obolibrary.org/obo/HP_0006095 HP:0033675 biolink:PhenotypicFeature Frailty A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised. hp.json http://purl.obolibrary.org/obo/HP_0033675 HP:0031012 biolink:PhenotypicFeature Thin-cap fibroatheroma Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis. hp.json TCFA http://purl.obolibrary.org/obo/HP_0031012 HP:0033674 biolink:PhenotypicFeature Pulmonary blood flow redistribution Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung. hp.json http://purl.obolibrary.org/obo/HP_0033674 HP:0031013 biolink:PhenotypicFeature Ankylosis A reduction of joint mobility resulting from changes involving the articular surfaces. hp.json http://purl.obolibrary.org/obo/HP_0031013 HP:0033677 biolink:PhenotypicFeature Acute respiratory distress syndrome Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300. hp.json ARDS http://purl.obolibrary.org/obo/HP_0033677 HP:0031014 biolink:PhenotypicFeature Arteria lusoria Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria. hp.json Lusorian artery|Aberrant right subclavian artery http://purl.obolibrary.org/obo/HP_0031014 UBERON:0011241 biolink:AnatomicalEntity ethmoid region The most anterior region of the braincase. Provides structural support for peripheral olfactory organ. AAO:0000986 hp.json http://purl.obolibrary.org/obo/UBERON_0011241 HP:0033676 biolink:PhenotypicFeature Posttraumatic stress symptom A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating). hp.json PTSD http://purl.obolibrary.org/obo/HP_0033676 HP:0031015 biolink:PhenotypicFeature Intrahepatic portal vein sclerosis Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices. hp.json Incomplete septal cirrhosis|Non cirrhotic portal fibrosis|Obliterative portal venopathy|Idiopathic non-cirrhotic portal hypertension http://purl.obolibrary.org/obo/HP_0031015 HP:0033671 biolink:PhenotypicFeature Pulmonary oligemia Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow. hp.json http://purl.obolibrary.org/obo/HP_0033671 HP:0033670 biolink:PhenotypicFeature Organizing pneumonia Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities. hp.json http://purl.obolibrary.org/obo/HP_0033670 HP:0033673 biolink:PhenotypicFeature Positive Phalen test The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger). hp.json Phalen manoeuvre|Phalen maneuver http://purl.obolibrary.org/obo/HP_0033673 HP:0031010 biolink:PhenotypicFeature Hyperphalangy of the 3rd finger An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. hp.json Hyperphalangy of third finger http://purl.obolibrary.org/obo/HP_0031010 HP:0033672 biolink:PhenotypicFeature Positive carpal Tinel sign The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve. hp.json Positive carpal Hoffmann Tinel sign http://purl.obolibrary.org/obo/HP_0033672 HP:0031011 biolink:PhenotypicFeature Fatty streak Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV. hp.json Sudanophilic lesion http://purl.obolibrary.org/obo/HP_0031011 PR:000001850 biolink:Protein cathepsin K A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. IUPHARobj:2350 hp.json cathepsin X|CTSO2|CTSK|cathepsin O2|cathepsin O|CTSO http://purl.obolibrary.org/obo/PR_000001850 HP:0031016 biolink:PhenotypicFeature Alternating radiolucent and radiodense metaphyseal lines Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra. hp.json Zebra stripe sign http://purl.obolibrary.org/obo/HP_0031016 HP:0033679 biolink:PhenotypicFeature Abnormal red nucleus morphology Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement. hp.json http://purl.obolibrary.org/obo/HP_0033679 HP:0033678 biolink:PhenotypicFeature Acute coronary syndrome The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI). hp.json http://purl.obolibrary.org/obo/HP_0033678 HP:0031017 biolink:PhenotypicFeature Swiss cheese atrial septal defect Multiple defects in the atrial septum. hp.json http://purl.obolibrary.org/obo/HP_0031017 HP:0031018 biolink:PhenotypicFeature Eccrine syringofibroadenoma Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA). hp.json Syringofibroadenoma|Eccrine syringofibroadenomatous hyperplasia|Acrosyringeal adenomatosis http://purl.obolibrary.org/obo/HP_0031018 HP:0031019 biolink:PhenotypicFeature Pyknotic bone marrow neutrophils Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments. hp.json http://purl.obolibrary.org/obo/HP_0031019 HP:0006089 biolink:PhenotypicFeature Palmar hyperhidrosis UMLS:C1856953 hp.json Excessive sweating of hands http://purl.obolibrary.org/obo/HP_0006089 HP:0006086 biolink:PhenotypicFeature Thin metacarpal cortices UMLS:C1850160 hp.json http://purl.obolibrary.org/obo/HP_0006086 HP:0006088 biolink:PhenotypicFeature 1-5 finger complete cutaneous syndactyly UMLS:C1861357 hp.json http://purl.obolibrary.org/obo/HP_0006088 UBERON:0001826 biolink:AnatomicalEntity nasal cavity mucosa The mucous membrane that lines the nasal cavity[MP]. CALOHA:TS-0657|EMAPA:36026|GAID:302|FMA:59684|BTO:0000912 hp.json mucosa of nose|nasal mucosa|mucous membrane of nose|tunica mucosa nasalis|tunica mucosa nasi http://purl.obolibrary.org/obo/UBERON_0001826 pheno_slim GO:0097475 biolink:BiologicalProcess motor neuron migration The orderly movement of a motor neuron from one site to another. A motor neuron is an efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement. hp.json http://purl.obolibrary.org/obo/GO_0097475 UBERON:0001825 biolink:AnatomicalEntity paranasal sinus The paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity. CALOHA:TS-2082|FMA:59679|EMAPA:35662|GAID:355|MA:0000431|EV:0100038|UMLS:C0030471|MESH:D010256|NCIT:C12763|EHDAA:6489 hp.json nasal sinus|sinus http://purl.obolibrary.org/obo/UBERON_0001825 uberon_slim|pheno_slim GO:0097474 biolink:BiologicalProcess retinal cone cell apoptotic process Any apoptotic process in a retinal cone cell, one of the two photoreceptor cell types of the vertebrate retina. hp.json cone photoreceptor apoptotic process http://purl.obolibrary.org/obo/GO_0097474 UBERON:0001828 biolink:AnatomicalEntity gingiva The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001]. GAID:1257|EMAPA:35945|EV:0100064|VHOG:0001269|MESH:D005881|BTO:0000519|UMLS:C0017562|FMA:59762|EFO:0001925|NCIT:C32677|OpenCyc:Mx4rvViWnZwpEbGdrcN5Y29ycA|MA:0000342|galen:Gingiva|CALOHA:TS-2074 hp.json gums|gum|gum tissue|gingival mucosa http://purl.obolibrary.org/obo/UBERON_0001828 pheno_slim|efo_slim|uberon_slim UBERON:0001827 biolink:AnatomicalEntity secretion of lacrimal gland Aqueous substance secreted by the lacrimal gland. EMAPA:36537|BTO:0001499|MA:0002508|NCIT:C33739|FMA:59756|galen:Tears|CALOHA:TS-1016|GAID:1173|galen:Tear|MESH:D013666|ENVO:02000034|UMLS:C0039409 hp.json tears|tear fluid|tear|lacrimal fluid|lacrimal gland secretion|lacrimal secretion http://purl.obolibrary.org/obo/UBERON_0001827 uberon_slim GO:0097476 biolink:BiologicalProcess spinal cord motor neuron migration The orderly movement of a spinal cord motor neuron from one site to another. A spinal cord motor neuron is a motor neuron that passes from the spinal cord toward or to a muscle and conducts an impulse that causes movement. hp.json http://purl.obolibrary.org/obo/GO_0097476 UBERON:0001821 biolink:AnatomicalEntity sebaceous gland A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]. VHOG:0001468|NCIT:C33519|EMAPA:35754|GAID:900|BTO:0001980|EV:0100161|MESH:D012627|MA:0002565|CALOHA:TS-2384|UMLS:C0036505|FMA:59160 hp.json sebaceous follicle|glandula sebacea|glandula sebaceae http://purl.obolibrary.org/obo/UBERON_0001821 human_reference_atlas|uberon_slim|organ_slim|pheno_slim UBERON:0001824 biolink:AnatomicalEntity mucosa of larynx The mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx. NCIT:C49246|MESH:D007820|SCTID:361940006|MA:0001766|GAID:301|FMA:59662|EMAPA:18334|UMLS:C0023053 hp.json larynx mucous membrane|laryngeal mucosa|mucosa of organ of larynx|tunica mucosa laryngis|organ mucosa of larynx|mucous membrane of larynx|larynx mucosa|laryngeal mucous membrane|larynx mucosa of organ|larynx organ mucosa http://purl.obolibrary.org/obo/UBERON_0001824 GO:0097473 biolink:BiologicalProcess retinal rod cell apoptotic process Any apoptotic process in a retinal rod cell, one of the two photoreceptor cell types of the vertebrate retina. hp.json rod photoreceptor apoptotic process http://purl.obolibrary.org/obo/GO_0097473 UBERON:0001823 biolink:AnatomicalEntity nasal cartilage One of the cartilage structures in the nose that provide form and support[WP]. CALOHA:TS-0655|FMA:59502|EMAPA:37681|MESH:D055171|NCIT:C49593|MA:0001883|UMLS:C0225415 hp.json cartilage of nose http://purl.obolibrary.org/obo/UBERON_0001823 uberon_slim|pheno_slim HP:0033600 biolink:PhenotypicFeature Fibrillary glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). hp.json http://purl.obolibrary.org/obo/HP_0033600 UBERON:0001829 biolink:AnatomicalEntity major salivary gland One of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands. FMA:59788|NCIT:C12999|MA:0002478|UMLS:C0930553|galen:MajorSalivaryGland hp.json http://purl.obolibrary.org/obo/UBERON_0001829 pheno_slim|organ_slim CHEBI:48299 biolink:ChemicalSubstance butane-1,2,3,4-tetrol A tetritol that is butane substituted by hydroxy groups at positions 1, 2, 3 and 4. Reaxys:1735878|Beilstein:1735878|CAS:7541-59-5|KEGG:C00503|CAS:149-32-6|KEGG:D08915|KNApSAcK:C00001161 hp.json Phycitol|Phycite|Erythrite|1,2,3,4-tetrahydroxybutane|butane-1,2,3,4-tetrol|Erythrol http://purl.obolibrary.org/obo/CHEBI_48299 3_STAR HP:0008639 biolink:PhenotypicFeature Gonadal hypoplasia UMLS:C0239761 hp.json Underdeveloped gonad http://purl.obolibrary.org/obo/HP_0008639 HP:0033606 biolink:PhenotypicFeature Bone marrow maturation arrest Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. hp.json Haematopoietic maturation arrest|Hematopoietic maturation arrest http://purl.obolibrary.org/obo/HP_0033606 HP:0033605 biolink:PhenotypicFeature Pustular rash A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. hp.json Pustulosis http://purl.obolibrary.org/obo/HP_0033605 HP:0033608 biolink:PhenotypicFeature Pulmonary nodule Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging. hp.json Spot on the lung http://purl.obolibrary.org/obo/HP_0033608 HP:0033607 biolink:PhenotypicFeature Bone marrow arrest at the promyelocytic stage A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow. hp.json http://purl.obolibrary.org/obo/HP_0033607 GO:1901052 biolink:BiologicalProcess sarcosine metabolic process The chemical reactions and pathways involving sarcosine. hp.json sarcosine metabolism http://purl.obolibrary.org/obo/GO_1901052 HP:0033602 biolink:PhenotypicFeature Glomerular hyaline subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). hp.json http://purl.obolibrary.org/obo/HP_0033602 HP:0008635 biolink:PhenotypicFeature Hypertrophy of the urinary bladder Abnormal enlargement of the urinary bladder. UMLS:C4021531 hp.json Hypertrophic urinary bladder http://purl.obolibrary.org/obo/HP_0008635 HP:0033601 biolink:PhenotypicFeature Glomerular subepithelial immune-complex deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). hp.json http://purl.obolibrary.org/obo/HP_0033601 HP:0033604 biolink:PhenotypicFeature Glomerular capillary wire loop deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. hp.json http://purl.obolibrary.org/obo/HP_0033604 HP:0033603 biolink:PhenotypicFeature Glomerular subepithelial deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). hp.json http://purl.obolibrary.org/obo/HP_0033603 HP:0008636 biolink:PhenotypicFeature Lobular glomerulopathy UMLS:C4024651 hp.json http://purl.obolibrary.org/obo/HP_0008636 HP:0008631 biolink:PhenotypicFeature Ureteral dysgenesis A developmental anomaly of the ureter. UMLS:C4024653 hp.json http://purl.obolibrary.org/obo/HP_0008631 UBERON:0001831 biolink:AnatomicalEntity parotid gland The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]. EMAPA:18537|AAO:0010095|MESH:D010306|galen:ParotidGland|EV:0100060|NCIT:C12427|OpenCyc:Mx4rvqwyg5wpEbGdrcN5Y29ycA|VHOG:0000308|MA:0001585|EFO:0002558|FMA:59790|UMLS:C0030580|CALOHA:TS-0748|GAID:938|BTO:0001004 hp.json parotid|glandula parotidea http://purl.obolibrary.org/obo/UBERON_0001831 uberon_slim|pheno_slim|efo_slim HP:0008633 biolink:PhenotypicFeature Agonadism Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). UMLS:C4024652 hp.json Gonadal agenesis|Absent gonadal tissue http://purl.obolibrary.org/obo/HP_0008633 HP:0033609 biolink:PhenotypicFeature Solid pulmonary nodule A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance. hp.json http://purl.obolibrary.org/obo/HP_0033609 UBERON:0001815 biolink:AnatomicalEntity lumbosacral nerve plexus An arrangement of nerve fibers, running from the spine that travels to the pelvic appendage where it innervates skin and muscle. GAID:849|NCIT:C52805|EHDAA:4673|BAMS:lsp|MA:0001181|EHDAA2:0001040|EMAPA:17587|VHOG:0000926|FMA:5907|OpenCyc:Mx4rvzYo75wpEbGdrcN5Y29ycA|MESH:D008160|UMLS:C0024093 hp.json lumbosacral plexus|plexus lumbosacralis|plexus lumbosacralis http://purl.obolibrary.org/obo/UBERON_0001815 uberon_slim UBERON:0001814 biolink:AnatomicalEntity brachial nerve plexus An arrangement of nerve fibers, running from the spine where it proceeds through the neck then the axilla and into the arm where it innervates skin and muscle. [WP,modified]. EHDAA:3782|NCIT:C12682|MESH:D001917|OpenCyc:Mx4rwNWmO5wpEbGdrcN5Y29ycA|EMAPA:16988|MA:0001180|GAID:842|UMLS:C0006090|EHDAA2:0000180|VHOG:0000372|FMA:5906 hp.json plexus brachialis|brachial plexus|plexus brachialis http://purl.obolibrary.org/obo/UBERON_0001814 human_reference_atlas|uberon_slim UBERON:0001817 biolink:AnatomicalEntity lacrimal gland The lacrimal glands are paired almond-shaped glands, located in or near the orbital region, that secrete the aqueous layer of the tear film.[WP]. MA:0001296|EFO:0001389|CALOHA:TS-0512|BTO:0000044|VHOG:0001476|EMAPA:35463|EV:0100339|UMLS:C0022907|FMA:59101|NCIT:C12346 hp.json glandula lacrimalis|lacrimal-preorbital gland|preorbital gland|glandula praeorbitalis|tear gland http://purl.obolibrary.org/obo/UBERON_0001817 pheno_slim|efo_slim|uberon_slim|organ_slim UBERON:0001816 biolink:AnatomicalEntity autonomic nerve plexus A nerve plexus that is part of an autonomic nervous system [Automatically generated definition]. FMA:5910|EMAPA:18224|MA:0000221 hp.json plexus nervosus visceralis|visceral nerve plexus|plexus autonomicus|autonomic plexus|visceral plexus|plexus visceralis http://purl.obolibrary.org/obo/UBERON_0001816 UBERON:0001811 biolink:AnatomicalEntity conjunctiva The mucous membrane that lines the inner surface of the eyelids and the front of the eyeball. XAO:0000182|NCIT:C12341|EV:0100340|EFO:0000374|GAID:898|CALOHA:TS-2232|UMLS:C0009758|MESH:D003228|FMA:59011|EMAPA:18233|MA:0000265|BTO:0003415|AAO:0010343 hp.json conjunctivas|wall of conjunctival sac|tunica conjunctiva|conjunctivae http://purl.obolibrary.org/obo/UBERON_0001811 efo_slim|uberon_slim|pheno_slim UBERON:0001810 biolink:AnatomicalEntity nerve plexus Anatomical junction where subdivisions of two or more neural trees interconnect with one another to form a network through which nerve fibers of the constituent nerve trees become regrouped; together with other nerve plexuses, nerves and ganglia, it constitutes the peripheral nervous system. Examples: cervical nerve plexus, brachial nerve plexus, sacral nerve plexus[FMA]. NCIT:C12929|EHDAA:3780|FMA:5901|MA:0002407|EMAPA:37683|UMLS:C0501403|BTO:0000205|EHDAA2:0003138|AEO:0000138 hp.json plexus http://purl.obolibrary.org/obo/UBERON_0001810 human_reference_atlas|uberon_slim UBERON:0001813 biolink:AnatomicalEntity spinal nerve plexus An intermingling of fiber fascicles from adjacent spinal nerves to form a network. FMA:5903|EMAPA:16987|EHDAA2:0001899|MA:0000235|VHOG:0000925|UMLS:C0228603|NCIT:C49601 hp.json plexus of spinal nerves|spinal nerve plexus|somatic nerve plexus|plexus nervorum spinalium http://purl.obolibrary.org/obo/UBERON_0001813 UBERON:0001812 biolink:AnatomicalEntity palpebral conjunctiva A thin transparent mucous membrane that covers the posterior surface of the eyelids and is continuous with the bulbar conjunctiva at the conjunctival fornicies. UMLS:C0229274|NCIT:C12901|FMA:59025|MA:0001265 hp.json conjunctival layer of eyelids|tunica conjunctiva palpebrum|tarsal conjunctiva|eyelid conjunctiva http://purl.obolibrary.org/obo/UBERON_0001812 pheno_slim HP:0033611 biolink:PhenotypicFeature Part-solid pulmonary nodule Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized. hp.json http://purl.obolibrary.org/obo/HP_0033611 HP:0033610 biolink:PhenotypicFeature Subsolid pulmonary nodule Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention. hp.json http://purl.obolibrary.org/obo/HP_0033610 UBERON:0001819 biolink:AnatomicalEntity palpebral fissure Orifice separating upper and lower eyelids. In the human adult this measures about 10mm vertically and 30 mm horizontally. It can be reduced in size in fetal alcohol syndrome. In Trisomy 9 the palpebral fissures can be upslanting. [WP,modified]. FMA:59110|MA:0001266 hp.json rima palpebrarum http://purl.obolibrary.org/obo/UBERON_0001819 pheno_slim|uberon_slim UBERON:0001818 biolink:AnatomicalEntity tarsal gland A modified lobulated sebaceous gland at the rim of an eyelid, responsible for the supply of meibum. UMLS:C0025181|MESH:D008537|NCIT:C33075|GAID:899|FMA:59104|MA:0001249|BTO:0004165 hp.json tarsoconjunctival gland|Meibomian gland|palpebral gland|gland of Meibom|glandula tarsales http://purl.obolibrary.org/obo/UBERON_0001818 pheno_slim|uberon_slim|organ_slim HP:0033617 biolink:PhenotypicFeature Supernumerary tracheal bronchus Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus. hp.json http://purl.obolibrary.org/obo/HP_0033617 HP:0033616 biolink:PhenotypicFeature Accessory cardiac bronchus Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended. hp.json http://purl.obolibrary.org/obo/HP_0033616 HP:0033619 biolink:PhenotypicFeature Typical perifissural nodule A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical). hp.json http://purl.obolibrary.org/obo/HP_0033619 HP:0033618 biolink:PhenotypicFeature Displaced lobar tracheal bronchus Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus. hp.json Bronchus suis|Pig bronchus http://purl.obolibrary.org/obo/HP_0033618 HP:0033613 biolink:PhenotypicFeature Perifissural pulmonary nodule Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. hp.json http://purl.obolibrary.org/obo/HP_0033613 HP:0033612 biolink:PhenotypicFeature Pure ground-glass pulmonary nodule Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed. hp.json http://purl.obolibrary.org/obo/HP_0033612 CHEBI:131565 biolink:ChemicalSubstance steroid aldehyde Any steroid substituted by a formyl group. hp.json steroid aldehydes http://purl.obolibrary.org/obo/CHEBI_131565 3_STAR HP:0008648 biolink:PhenotypicFeature Anteriorly displaced urethral meatus UMLS:C4024648 hp.json http://purl.obolibrary.org/obo/HP_0008648 HP:0033615 biolink:PhenotypicFeature Displaced tracheal bronchus Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus. hp.json http://purl.obolibrary.org/obo/HP_0033615 HP:0008647 biolink:PhenotypicFeature Pubertal developmental failure in females UMLS:C4024649 hp.json http://purl.obolibrary.org/obo/HP_0008647 HP:0033614 biolink:PhenotypicFeature Tracheal bronchus Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced. hp.json http://purl.obolibrary.org/obo/HP_0033614 GO:0036504 biolink:BiologicalProcess Golgi membrane fusion The joining of two lipid bilayers that surround the Golgi apparatus to form a single Golgi membrane. hp.json membrane fusion involved in Golgi reassembly|post-mitotic fusion of Golgi membranes http://purl.obolibrary.org/obo/GO_0036504 UBERON:0001820 biolink:AnatomicalEntity sweat gland Any of the coil glands of the skin that secrete sweat. VHOG:0001467|OpenCyc:Mx4rvVjx15wpEbGdrcN5Y29ycA|GAID:943|BTO:0001331|EV:0100160|CALOHA:TS-0993|NCIT:C33712|MESH:D013545|UMLS:C0038989|FMA:59152|EMAPA:35844|MA:0000150 hp.json glandula sudorifera|sudoriparous gland|sudoriferous gland http://purl.obolibrary.org/obo/UBERON_0001820 uberon_slim|organ_slim|pheno_slim HP:0008643 biolink:PhenotypicFeature Nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. UMLS:C2675558 hp.json http://purl.obolibrary.org/obo/HP_0008643 HP:0008640 biolink:PhenotypicFeature Congenital macroorchidism UMLS:C4024650 hp.json http://purl.obolibrary.org/obo/HP_0008640 UBERON:0001804 biolink:AnatomicalEntity capsule of lens The elastic, clear, membrane-like structure, that is outer most layer of the lens. ZFA:0005574|Wikipedia:Lens_(anatomy)#Lens_capsule|SCTID:244500004|UMLS:C0229232|VHOG:0000550|EHDAA2:0000977|NCIT:C32975|EMAPA:18237|FMA:58881|MA:0001300 hp.json lens capsule|capsula lentis http://purl.obolibrary.org/obo/UBERON_0001804 pheno_slim|uberon_slim|vertebrate_core UBERON:0001803 biolink:AnatomicalEntity epithelium of lens A layer of epithelial cells that is part of the eye. BTO:0001873|SCTID:362523006|EMAPA:32871|XAO:0004094|CALOHA:TS-0543|ZFA:0001326|FMA:58871|Wikipedia:Lens_(anatomy)#Lens_Epithelium|TAO:0001326|MA:0001301 hp.json epithelium lentis|lens epithelium|lens epithelial tissue|eye lens epithelial tissue|epithelial tissue of lens|epithelial tissue of eye lens|epithelium of eye lens|eye lens epithelium http://purl.obolibrary.org/obo/UBERON_0001803 pheno_slim|human_reference_atlas|vertebrate_core UBERON:0001806 biolink:AnatomicalEntity sympathetic ganglion A ganglion of the sympathetic nervous system. Examples: paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia. NCIT:C12467|FMA:5890|AAO:0010773|SCTID:362485003|BTO:0001333|EHDAA2:0001969|CALOHA:TS-0994|UMLS:C0017071|MA:0000226|MESH:D005728|EMAPA:17157|Wikipedia:Sympathetic_ganglion hp.json ganglion of sympathetic part of autonomic division of nervous system|ganglion sympatheticum|sympathetic nervous system ganglion|ganglion sympathicum|ganglion sympathicum|ganglion of sympathetic nervous system|ganglion sympathicum|sympathetic part of autonomic division of nervous system ganglion http://purl.obolibrary.org/obo/UBERON_0001806 pheno_slim|uberon_slim UBERON:0001805 biolink:AnatomicalEntity autonomic ganglion Ganglion that has dendrites that form a junction between autonomic nerves originating from the central nervous system and autonomic nerves innervating their target organs in the periphery. There are two subtypes, sympathetic ganglion and parasympathetic ganglion. EMAPA:18221|MA:0000220|Wikipedia:Autonomic_ganglion|UMLS:C0017068|FMA:5889|AEO:0001001|EMAPA:17157|MESH:D005725|CALOHA:TS-2340|NCIT:C12720 hp.json ganglion of visceral nervous system|autonomic nervous system ganglion|ganglion autonomicum|ganglion autonomicum|ganglion of autonomic nervous system|visceral nervous system ganglion http://purl.obolibrary.org/obo/UBERON_0001805 uberon_slim UBERON:0001800 biolink:AnatomicalEntity sensory ganglion The clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells. MESH:D017950|BTO:0005630|FMA:5885|AEO:0001000|NCIT:C13060|EMAPA:36596|MA:0002566|UMLS:C0206429 hp.json ganglion sensorium http://purl.obolibrary.org/obo/UBERON_0001800 pheno_slim UBERON:0001802 biolink:AnatomicalEntity posterior segment of eyeball Any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive). MA:0002485|Wikipedia:Posterior_segment_of_eyeball|FMA:58868|NCIT:C12906|UMLS:C0278450|SCTID:280659009|EMAPA:36595|ZFA:0005567 hp.json posterior segment eye|segmentum posterius (bulbus oculi)|posterior segment of the eye|posterior segment of eye|eye posterior segment|posterior eye segment|segmentum posterius bulbi oculi|segmentum posterius bulbi oculi http://purl.obolibrary.org/obo/UBERON_0001802 pheno_slim|vertebrate_core UBERON:0001801 biolink:AnatomicalEntity anterior segment of eyeball Any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive). Wikipedia:Anterior_segment_of_eyeball|MA:0002484|SCTID:280658001|FMA:58865|MESH:D000869|UMLS:C0003153|NCIT:C12668|EMAPA:36594|ZFA:0005566 hp.json eye anterior segment|segmentum anterius bulbi oculi|segmentum anterius (bulbus oculi)|anterior segment eye|anterior segment of the eye|anterior segment of eye|segmentum anterius bulbi oculi|anterior eye segment http://purl.obolibrary.org/obo/UBERON_0001801 pheno_slim|vertebrate_core HP:0033620 biolink:PhenotypicFeature Atypical perifissural nodule A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical). hp.json http://purl.obolibrary.org/obo/HP_0033620 HP:0033622 biolink:PhenotypicFeature Migratory erythematous plaque A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin. hp.json http://purl.obolibrary.org/obo/HP_0033622 HP:0033621 biolink:PhenotypicFeature Bronchial diverticula Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum. hp.json http://purl.obolibrary.org/obo/HP_0033621 UBERON:0001808 biolink:AnatomicalEntity parasympathetic ganglion Ganglion containing neurons that receive innervation from parasympathetic neurons in the central nervous system and subserves parasympathetic functions through innervation of smooth muscle, cardiac muscle and glands. Wikipedia:Parasympathetic_ganglion|EMAPA:32813|EHDAA2:0001400|UMLS:C0017069|NLXANAT:100303|BTO:0001256|NCIT:C52557|MA:0002469|SCTID:279284004|FMA:5894|MESH:D005726 hp.json ganglion parasympathicum|ganglion parasympathicum|ganglion parasympathicum http://purl.obolibrary.org/obo/UBERON_0001808 pheno_slim|uberon_slim UBERON:0001809 biolink:AnatomicalEntity enteric ganglion MA:0001144|NCIT:C52709|UMLS:C0501399|EMAPA:35312|FMA:5896 hp.json intramural ganglion http://purl.obolibrary.org/obo/UBERON_0001809 pheno_slim HP:0033628 biolink:PhenotypicFeature Bowel irritability Intermittent abdominal pain with diarrhea and/or constipation. hp.json http://purl.obolibrary.org/obo/HP_0033628 HP:0033627 biolink:PhenotypicFeature Increased urine harderoporphyrin level Increased amount of harderoporphyrin in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033627 HP:0008619 biolink:PhenotypicFeature Bilateral sensorineural hearing impairment A bilateral form of sensorineural hearing impairment. SNOMEDCT_US:194424005|UMLS:C0452138 hp.json Bilateral nerve deafness|Bilateral sensorineural hearing loss|Hearing loss, sensorineural, bilateral|Bilateral sensorineural deafness http://purl.obolibrary.org/obo/HP_0008619 HP:0033629 biolink:PhenotypicFeature IgG4 autoimmune antibody positivity The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues. hp.json http://purl.obolibrary.org/obo/HP_0033629 HP:0033624 biolink:PhenotypicFeature History of congenital CMV infection A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits. hp.json History of congenital cytomegalovirus infection http://purl.obolibrary.org/obo/HP_0033624 HP:0033623 biolink:PhenotypicFeature Birth history Information about the delivery and health status at birth typically elicited as a part of the past medical history. hp.json http://purl.obolibrary.org/obo/HP_0033623 HP:0033626 biolink:PhenotypicFeature Increased non-HDL cholesterol concentration Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol). hp.json Elevated non-HDL cholesterol concentration http://purl.obolibrary.org/obo/HP_0033626 HP:0008615 biolink:PhenotypicFeature Adult onset sensorineural hearing impairment The presence of sensorineural deafness with late onset. UMLS:C4021534 hp.json Sensorineural deafness, late-onset|Late sensorineural hearing loss http://purl.obolibrary.org/obo/HP_0008615 HP:0033625 biolink:PhenotypicFeature Emotional insecurity A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening. hp.json http://purl.obolibrary.org/obo/HP_0033625 HP:0008610 biolink:PhenotypicFeature Infantile sensorineural hearing impairment A form of sensorineural hearing impairment with infantile onset. UMLS:C4021535 hp.json Infantile sensorineural hearing loss http://purl.obolibrary.org/obo/HP_0008610 HP:0033631 biolink:PhenotypicFeature Spondylitis Inflammation of the vertebrae (vertebral bodies) or spine. hp.json http://purl.obolibrary.org/obo/HP_0033631 HP:0033630 biolink:PhenotypicFeature Brain fog Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously. hp.json Mental fog|Mental clouding|Mental fatigue http://purl.obolibrary.org/obo/HP_0033630 HP:0033633 biolink:PhenotypicFeature Decreased alveolar volume An abnormal reduction in alveolar volume. hp.json http://purl.obolibrary.org/obo/HP_0033633 HP:0033632 biolink:PhenotypicFeature Abnormal alveolar volume Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas. hp.json http://purl.obolibrary.org/obo/HP_0033632 HP:0008628 biolink:PhenotypicFeature Abnormality of the stapes An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. UMLS:C4021532 hp.json Stapedial abnormalities http://purl.obolibrary.org/obo/HP_0008628 HP:0033639 biolink:PhenotypicFeature Septic pulmonary embolism Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations. hp.json Septic pulmonary emboli http://purl.obolibrary.org/obo/HP_0033639 HP:0033638 biolink:PhenotypicFeature Intralobular septal thickening Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern. hp.json Intralobular lines http://purl.obolibrary.org/obo/HP_0033638 HP:0008629 biolink:PhenotypicFeature Pulsatile tinnitus Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. SNOMEDCT_US:232322006|UMLS:C0751559|MSH:D014012 hp.json http://purl.obolibrary.org/obo/HP_0008629 HP:0033635 biolink:PhenotypicFeature Post-capillary pulmonary hypertension Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). hp.json Postcapillary pulmonary hypertension http://purl.obolibrary.org/obo/HP_0033635 HP:0033634 biolink:PhenotypicFeature Increased alveolar volume An abnormal elevation in alveolar volume. hp.json http://purl.obolibrary.org/obo/HP_0033634 HP:0033637 biolink:PhenotypicFeature Anti-endomysial antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2). hp.json Anti-transglutaminase 2 antibody positivity http://purl.obolibrary.org/obo/HP_0033637 HP:0033636 biolink:PhenotypicFeature Combined pre- and post-capillary pulmonary hypertension Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). hp.json http://purl.obolibrary.org/obo/HP_0033636 HP:0008625 biolink:PhenotypicFeature Severe sensorineural hearing impairment A severe form of sensorineural hearing impairment. UMLS:C4021533 hp.json Severe sensorineural deafness|Severe sensorineural hearing loss http://purl.obolibrary.org/obo/HP_0008625 CHEBI:36299 biolink:ChemicalSubstance tricarboxylic acid monoanion hp.json tricarboxylic acid monoanions http://purl.obolibrary.org/obo/CHEBI_36299 3_STAR UBERON:0001869 biolink:AnatomicalEntity cerebral hemisphere One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]. SCTID:278251007|EMAPA:16653|UMLS:C0228174|MA:0000133|BIRNLEX:1042|BAMS:HEM|OpenCyc:Mx4rvigx5ZwpEbGdrcN5Y29ycA|VHOG:0001639|MBA:403|DMBA:15739|EFO:0002521|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=241|galen:CerebralHemisphere|NCIT:C12351|CALOHA:TS-2007|FMA:61817|BTO:0000231|Wikipedia:Cerebral_hemisphere|AAO:0010480|UMLS:C0242202 hp.json nucleus medialis amygdalae|hemispherium cerebri|cerebrum|medial amygdalar nucleus|hemispherium cerebri|nucleus amygdaloideus medialis|hemispheric regions|cerebrum|hemisphere http://purl.obolibrary.org/obo/UBERON_0001869 uberon_slim|pheno_slim|efo_slim UBERON:0001866 biolink:AnatomicalEntity sebum Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. ENVO:02000037|FMA:61304|GAID:1168|UMLS:C0036511|NCIT:C13276|BTO:0001981|MESH:D012629|MA:0002538 hp.json http://purl.obolibrary.org/obo/UBERON_0001866 uberon_slim UBERON:0001868 biolink:AnatomicalEntity skin of chest A zone of skin that is part of a chest [Automatically generated definition]. FMA:61416|MA:0000553|EMAPA:37279 hp.json chest zone of skin|zone of skin of pectoral part of chest|chest skin|zone of skin of anterior part of thorax|zone of skin of anterolateral part of thorax|anterior thoracic region zone of skin|zone of skin of anterior chest|zone of skin of chest|zone of skin of front of thorax|anterolateral part of thorax zone of skin|zone of skin of anterior thoracic region|front of thorax zone of skin http://purl.obolibrary.org/obo/UBERON_0001868 pheno_slim UBERON:0001867 biolink:AnatomicalEntity cartilage of external ear A cartilage that is part of a external ear [Automatically generated definition]. EMAPA:37706|GAID:103|MA:0001886|FMA:61339|MESH:D004425|UMLS:C0013445|NCIT:C49225 hp.json external ear cartilage http://purl.obolibrary.org/obo/UBERON_0001867 pheno_slim GO:0012505 biolink:CellularComponent endomembrane system A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. Wikipedia:Endomembrane_system hp.json http://purl.obolibrary.org/obo/GO_0012505 goslim_yeast|goslim_candida|goslim_flybase_ribbon|goslim_aspergillus GO:0012506 biolink:CellularComponent vesicle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. NIF_Subcellular:sao1153182838 hp.json http://purl.obolibrary.org/obo/GO_0012506 CHEBI:24281 biolink:ChemicalSubstance glucosyl group A glycosyl group obtained by removing the hydroxy group from the hemiacetal function of a glucose and, by extension, of a lower oligosaccharide having glucose at the reducing end. hp.json glucosyl groups http://purl.obolibrary.org/obo/CHEBI_24281 3_STAR CHEBI:24280 biolink:ChemicalSubstance D-glucosyl group The glucosyl group formed from D-glucopyranose. hp.json glucopyranosyl group|D-glucopyranosyl|D-glucopyranosyl group|glucosyl group http://purl.obolibrary.org/obo/CHEBI_24280 3_STAR GO:0012501 biolink:BiologicalProcess programmed cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. Wikipedia:Programmed_cell_death hp.json PCD|nonapoptotic programmed cell death|non-apoptotic programmed cell death|caspase-independent cell death|caspase-independent apoptosis|RCD|regulated cell death http://purl.obolibrary.org/obo/GO_0012501 prokaryote_subset|goslim_generic HP:0006016 biolink:PhenotypicFeature Delayed phalangeal epiphyseal ossification Delay in the process of formation and maturation of the epiphysis of one or more phalanx. UMLS:C4021609 hp.json Delayed bone maturation of end part of digital bone|Delayed phalangeal epiphyseal bone maturation http://purl.obolibrary.org/obo/HP_0006016 HP:0008678 biolink:PhenotypicFeature Renal hypoplasia/aplasia Absence or underdevelopment of the kidney. UMLS:C1857453 hp.json Absent/underdeveloped kidney|Renal aplasia/hypoplasia|Absent/small kidney|Renal agenesis/hypoplasia http://purl.obolibrary.org/obo/HP_0008678 HP:0006019 biolink:PhenotypicFeature Reduced proximal interphalangeal joint space UMLS:C1861396 hp.json Decreased space in hinge joint http://purl.obolibrary.org/obo/HP_0006019 UBERON:0001873 biolink:AnatomicalEntity caudate nucleus Subcortical nucleus of telecephalic origin consisting of an elongated gray mass lying lateral to and bordering the lateral ventricle. It is divided into a head, body and tail in some species. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=226|BIRNLEX:1373|UMLS:C0007461|GAID:670|OpenCyc:Mx4rvvyAjJwpEbGdrcN5Y29ycA|MESH:D002421|NCIT:C12451|BAMS:Cd|UMLS:C0007461|BTO:0000211|EV:0100185|EFO:0000907|BAMS:CA|HBA:4278|EHDAA2:0004461|EMAPA:18207|DMBA:15855|PBA:10082|BM:Tel-CA|CALOHA:TS-0121|DHBA:10334|MAT:0000513|FMA:61833|MA:0000894 hp.json nucleus caudatus|nucleus caudatus|Ammon horn fields|caudatum|caudatus http://purl.obolibrary.org/obo/UBERON_0001873 pheno_slim|efo_slim|uberon_slim HP:0008675 biolink:PhenotypicFeature Enlarged polycystic ovaries UMLS:C4024641 hp.json Enlarged ovaries with cysts http://purl.obolibrary.org/obo/HP_0008675 HP:0006012 biolink:PhenotypicFeature Widened metacarpal shaft UMLS:C1850159 hp.json Broad shaft of long bone of hand http://purl.obolibrary.org/obo/HP_0006012 UBERON:0001872 biolink:AnatomicalEntity parietal lobe Upper central part of the cerebral hemisphere. (MSH). HBA:4084|UMLS:C0030560|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=95|EV:0100168|GAID:680|UMLS:C0030560|CALOHA:TS-0747|NCIT:C12354|DHBA:12131|MESH:D010296|BTO:0001001|BIRNLEX:1148|OpenCyc:Mx4rvg-typwpEbGdrcN5Y29ycA|FMA:61826|MAT:0000506|EFO:0000914|BAMS:Parietal_lobe hp.json regio parietalis|parietal region|lobus parietalis http://purl.obolibrary.org/obo/UBERON_0001872 pheno_slim|efo_slim|human_reference_atlas|uberon_slim UBERON:0001875 biolink:AnatomicalEntity globus pallidus Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle. HBA:4293|DHBA:10342|MAT:0000510|EMAPA:35380|MA:0000890|EV:0100188|UMLS:C0017651|UMLS:C0017651|BTO:0002246|PBA:10097|GAID:668|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=231|EFO:0000905|MESH:D005917|BIRNLEX:1234|NCIT:C12449|FMA:61835|CALOHA:TS-2013|BAMS:GP hp.json globus pallidus (Burdach)|pale body|paleostriatum|pallidum|pallidium|nucleus pallidus http://purl.obolibrary.org/obo/UBERON_0001875 pheno_slim|efo_slim|uberon_slim HP:0008677 biolink:PhenotypicFeature Congenital nephrotic syndrome Nephrotic syndrome with onset within the first three months of life. MSH:C535761|UMLS:C3501848|SNOMEDCT_US:48796009 hp.json Congenital nephrosis http://purl.obolibrary.org/obo/HP_0008677 HP:0006014 biolink:PhenotypicFeature Abnormally shaped carpal bones UMLS:C1860111 hp.json Abnormally shaped wrist bones http://purl.obolibrary.org/obo/HP_0006014 HP:0008676 biolink:PhenotypicFeature Congenital megaureter A developmental disturbance with extreme ureteral dilatation. UMLS:C0266324|SNOMEDCT_US:718485003|SNOMEDCT_US:95576001 hp.json Congenital megaloureter http://purl.obolibrary.org/obo/HP_0008676 UBERON:0001874 biolink:AnatomicalEntity putamen Subcortical nucleus of telencephalic , which together with the caudate nucleus, forms the striatum. The putamen lies lateral to the internal capsule and medial to the external medullary lamina, and is separated from the caudate nucleus by the fibers of the internal capsule for most of its length, except at its anterior portion. UMLS:C0034169|GAID:671|BAMS:PU|BAMS:Pu|CALOHA:TS-2041|NCIT:C12452|EV:0100187|BM:Tel-Pu|DMBA:15857|VHOG:0001456|PBA:10086|BIRNLEX:809|DHBA:10338|HBA:4287|FMA:61834|MA:0000895|EMAPA:35719|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=230|MESH:D011699 hp.json nucleus putamen http://purl.obolibrary.org/obo/UBERON_0001874 pheno_slim|human_reference_atlas|uberon_slim HP:0008670 biolink:PhenotypicFeature Partial vaginal septum UMLS:C0750088 hp.json http://purl.obolibrary.org/obo/HP_0008670 UBERON:0001871 biolink:AnatomicalEntity temporal lobe Lower lateral part of the cerebral hemisphere. (MSH). UMLS:C0039485|CALOHA:TS-1020|EV:0100169|BIRNLEX:1160|NCIT:C12353|UMLS:C1268978|OpenCyc:Mx4rwQLi-ZwpEbGdrcN5Y29ycA|BTO:0001355|UMLS:C0039485|MAT:0000508|EFO:0000917|GAID:635|FMA:61825|HBA:4132|DHBA:12139|MESH:D013702|BAMS:Temporal_lobe|EMAPA:18797|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=125|BAMS:TL hp.json lobus temporalis|temporal cortex http://purl.obolibrary.org/obo/UBERON_0001871 pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0001870 biolink:AnatomicalEntity frontal cortex Anterior portion of the neocortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally[NIFSTD,modified]. DMBA:16002|MA:0000905|DHBA:10161|BTO:0000484|EMAPA:35357|FMA:242199|GAID:674|NLXANAT:20090601 hp.json gray matter of frontal lobe|frontal neocortex|frontal lobe cortex|grey matter of frontal lobe|cortex of frontal lobe http://purl.obolibrary.org/obo/UBERON_0001870 pheno_slim|efo_slim|uberon_slim HP:0008672 biolink:PhenotypicFeature Calcium oxalate nephrolithiasis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. SNOMEDCT_US:444717006|UMLS:C1833683|UMLS:C4280806|MSH:C563477 hp.json Ca2+ oxalate nephrolithiasis|Ca2+ oxalate urolithiasis|Oxalate nephrolithiasis|Ca2+ oxalate kidney stone|Calcium oxalate kidney stones|Calcium oxalate urolithiasis|Ca oxalate urolithiasis|Ca oxalate kidney stone|Ca oxalate nephrolithiasis http://purl.obolibrary.org/obo/HP_0008672 HP:0006011 biolink:PhenotypicFeature Cuboidal metacarpal Severely shortened metacarpal with a cuboidal appearance. UMLS:C4025093 hp.json Short, cube shaped long bone of hand http://purl.obolibrary.org/obo/HP_0006011 HP:0008691 biolink:PhenotypicFeature Solitary bladder diverticulum Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder. UMLS:C4024639 hp.json http://purl.obolibrary.org/obo/HP_0008691 UBERON:0001855 biolink:AnatomicalEntity cochlear duct of membranous labyrinth An endolymph filled cavity inside the cochlea, located in between the scala tympani and the scala vestibuli, separated by the basilar membrane and Reissner's membrane (the vestibular membrane) respectively. Houses the organ of Corti[WP]. BTO:0001692|GAID:874|EMAPA:17598|FMA:61119|NCIT:C32335|BIRNLEX:2562|VHOG:0000507|CALOHA:TS-0152|MA:0000243|UMLS:C1323110|EHDAA2:0000262|UMLS:C1323110|EHDAA:4718|UMLS:C1281166|MESH:D003053 hp.json cochlear aqueduct|scala of Loewenberg|cochlea duct|Reissner's canal|scala media|ductus cochlearis|scala medias|membranous cochlea|Reissners canal|ductus cochlearis|cochlear duct http://purl.obolibrary.org/obo/UBERON_0001855 uberon_slim|pheno_slim CHEBI:36278 biolink:ChemicalSubstance cholanic acids hp.json http://purl.obolibrary.org/obo/CHEBI_36278 1_STAR HP:0008689 biolink:PhenotypicFeature Bilateral cryptorchidism Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. SNOMEDCT_US:268228006|UMLS:C0431663|MSH:D003456 hp.json Cryptorchidism, bilateral http://purl.obolibrary.org/obo/HP_0008689 HP:0006028 biolink:PhenotypicFeature Metaphyseal cupping of metacarpals Metaphyseal cupping affecting the metacarpal bones. UMLS:C1855171 hp.json Cupping of wide portion of long bone of hand|Metacarpal/metaphyseal cupping http://purl.obolibrary.org/obo/HP_0006028 UBERON:0001862 biolink:AnatomicalEntity vestibular labyrinth The part of the membranous labyrinth that includes the utricle and saccule lodged within the vestibule and the semicircular ducts lodged eccentrically in the corresponding canals. MA:0000245|MESH:D014722|BTO:0001856|EMAPA:17286|XAO:0004145|NCIT:C33871|FMA:61255|EMAPA:17815|CALOHA:TS-0479|EHDAA:4706|UMLS:C0042606|EHDAA2:0000832 hp.json vestibular apparatus|inner ear vestibular component|vestibular component|labyrinthus vestibularis http://purl.obolibrary.org/obo/UBERON_0001862 pheno_slim HP:0008687 biolink:PhenotypicFeature Hypoplasia of the prostate UMLS:C1844923 hp.json Underdeveloped prostate|Hypoplastic prostate http://purl.obolibrary.org/obo/HP_0008687 HP:0006026 biolink:PhenotypicFeature Rounded epiphyses UMLS:C1850632 hp.json Rounded end part of bone http://purl.obolibrary.org/obo/HP_0006026 HP:0008682 biolink:PhenotypicFeature Renal tubular epithelial necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). SNOMEDCT_US:35455006|UMLS:C0022672|MSH:D007683 hp.json Acute tubular necrosis|Renal tubular necrosis http://purl.obolibrary.org/obo/HP_0008682 CHEBI:36277 biolink:ChemicalSubstance bile acid salt hp.json http://purl.obolibrary.org/obo/CHEBI_36277 HP:0008684 biolink:PhenotypicFeature Aplasia/hypoplasia of the uterus Absence or developmental hypoplasia of the uterus. UMLS:C4024640 hp.json Absent/underdeveloped uterus|Absent/small uterus http://purl.obolibrary.org/obo/HP_0008684 HP:0008683 biolink:PhenotypicFeature Enlarged labia minora Increase in size of the folds of skin between the outer labia. UMLS:C1849358 hp.json Labia minora hypertrophy|Hypertrophic labia minora http://purl.obolibrary.org/obo/HP_0008683 UBERON:0001848 biolink:AnatomicalEntity auricular cartilage Cartilage of the pinna and much of the external ear canal. EMAPA:35158|MA:0001227|FMA:61013 hp.json pinna cartilage|cartilage of pinna http://purl.obolibrary.org/obo/UBERON_0001848 pheno_slim UBERON:0001847 biolink:AnatomicalEntity lobule of pinna The soft lower part of the external ear, projecting below the antitragus. NCIT:C32999|UMLS:C0229315|MA:0002468|FMA:60984 hp.json ear lobule|lobule of auricle of ear|lobule of auricle|lobulus auriculae|ear lobe|auricular lobule|earlobe|pinna lobule|lobe of ear http://purl.obolibrary.org/obo/UBERON_0001847 uberon_slim|pheno_slim UBERON:0001849 biolink:AnatomicalEntity membranous labyrinth Organ with organ cavity which consists of the vestibular labyrinth and the cochlear labyrinth. The membranous labyrinth is lodged within the bony labyrinth and has the same general form; it is, however, considerably smaller and is partly separated from the bony walls by a quantity of fluid, the perilymph.[FMA, WP]. AAO:0011060|EHDAA2:0000899|VHOG:0000729|NCIT:C33090|MA:0000242|EHDAA:4698|EV:0100367|UMLS:C0458700|XAO:0000194|EMAPA:17815|FMA:61022 hp.json labyrinthus membranaceus http://purl.obolibrary.org/obo/UBERON_0001849 uberon_slim|organ_slim|pheno_slim UBERON:0001844 biolink:AnatomicalEntity cochlea The spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. [WP,modified]. MESH:D003051|VHOG:0000691|OpenCyc:Mx4rvqfJmJwpEbGdrcN5Y29ycA|EMAPA:17597|ZFA:0000374|CALOHA:TS-0151|XAO:0000197|FMA:60201|EFO:0000357|UMLS:C0009195|MA:0000240|NIFSTD_RETIRED:birnlex_883|TAO:0000374|MAT:0000144|UMLS:C0009195|BTO:0000267|EV:0100363|AAO:0000253|NCIT:C12395|BIRNLEX:1190|UMLS:C1278895|GAID:724|MIAA:0000144 hp.json lagenas|cochlear organ|cochlear duct|cochleae|lagena|cochlear part of bony labyrinth http://purl.obolibrary.org/obo/UBERON_0001844 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0001846 biolink:AnatomicalEntity internal ear Complex labyrinthine structure that comprises sensory endorgans specialized for vestibular, auditory, and acoustico-vestibular sensation. ZFA:0000217|CALOHA:TS-0478|EFO:0001363|MA:0000237|TAO:0000217|EHDAA:504|UMLS:C1268973|galen:InnerEar|VHOG:0000284|EHDAA2:0000831|GAID:871|AAO:0000238|BIRNLEX:1196|MESH:D007758|NCIT:C12499|UMLS:C0022889|FMA:60909|MAT:0000145|OpenCyc:Mx4rwJ8SsJwpEbGdrcN5Y29ycA|EMAPA:16194|UMLS:C0022889|XAO:0000192|BTO:0000630|MIAA:0000145|EV:0100361 hp.json auris interna|otocyst|inner ear|labyrinth http://purl.obolibrary.org/obo/UBERON_0001846 uberon_slim|vertebrate_core|pheno_slim|efo_slim CHEBI:24261 biolink:ChemicalSubstance glucocorticoid Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. hp.json glucocorticoids http://purl.obolibrary.org/obo/CHEBI_24261 3_STAR CHEBI:36248 biolink:ChemicalSubstance 5beta-cholanic acids Members of the class of cholanic acids based on a 5beta-cholane skeleton. hp.json http://purl.obolibrary.org/obo/CHEBI_36248 3_STAR HP:0008656 biolink:PhenotypicFeature Incomplete male pseudohermaphroditism UMLS:C4024645 hp.json http://purl.obolibrary.org/obo/HP_0008656 HP:0008659 biolink:PhenotypicFeature Multiple small medullary renal cysts The presence of many cysts in the medulla of the kidney. UMLS:C0687120|UMLS:C4024644|SNOMEDCT_US:204958008|UMLS:C4020790 hp.json Medullary cystic disease|Medullary sponge kidney disease http://purl.obolibrary.org/obo/HP_0008659 UBERON:0001851 biolink:AnatomicalEntity cortex Outermost layer of an organ[WP]. FMA:61109|EHDAA:9344|EFO:0000383|galen:Cortex hp.json cortex of organ|cortex http://purl.obolibrary.org/obo/UBERON_0001851 upper_level|pheno_slim|uberon_slim HP:0008653 biolink:PhenotypicFeature Crescentic glomerulonephritis A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. SNOMEDCT_US:236398000|UMLS:C0403416 hp.json http://purl.obolibrary.org/obo/HP_0008653 UBERON:0001850 biolink:AnatomicalEntity lacrimal drainage system A collection of channels that connects the conjunctival sac with the nasal cavity, encompassing the lacrimal ducts, the lacrimal sac and the naso-lacrimal duct. EMAPA:19245|MA:0001295|FMA:61063 hp.json lacrimal duct|tear duct http://purl.obolibrary.org/obo/UBERON_0001850 pheno_slim|uberon_slim HP:0008652 biolink:PhenotypicFeature Autonomic erectile dysfunction Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. UMLS:C1868524 hp.json Impotence due to autonomic dysfunction http://purl.obolibrary.org/obo/HP_0008652 HP:0008655 biolink:PhenotypicFeature Aplasia/Hypoplasia of the fallopian tube Aplasia or developmental hypoplasia of the fallopian tube. UMLS:C4020791|UMLS:C4024646 hp.json Absent or rudimentary fallopian tubes|Absent/underdeveloped fallopian tube|Absent/small fallopian tube http://purl.obolibrary.org/obo/HP_0008655 HP:0008651 biolink:PhenotypicFeature Uric acid urolithiasis independent of gout UMLS:C4024647 hp.json http://purl.obolibrary.org/obo/HP_0008651 CHEBI:36242 biolink:ChemicalSubstance 3-(4-hydroxyphenyl)pyruvate A 2-oxo monocarboxylic acid anion obtained by removal of a proton from the carboxylic acid group of 3-(4-hydroxyphenyl)pyruvic acid. Reaxys:3950858|Beilstein:3950858|KEGG:C01179|PMID:11948155|UM-BBD_compID:c0235|PMID:14593448 hp.json 3-(4-hydroxyphenyl)-2-oxopropanoate|4-Hydroxyphenylpyruvate|HPP|3-(4-hydroxyphenyl)pyruvate|3-(p-hydroxyphenyl)pyruvate|p-hydroxyphenylpyruvate|3-(4-Hydroxyphenyl)pyruvate http://purl.obolibrary.org/obo/CHEBI_36242 3_STAR UBERON:0001837 biolink:AnatomicalEntity duct of salivary gland The duct of a salivary gland. BTO:0005115|EMAPA:35750|FMA:59908|MA:0001586|NCIT:C32486|GAID:939|MESH:D018987 hp.json secretory duct|salivary duct|salivary gland duct http://purl.obolibrary.org/obo/UBERON_0001837 uberon_slim|pheno_slim UBERON:0001836 biolink:AnatomicalEntity saliva A fluid produced in the oral cavity by salivary glands, typically used in predigestion, but also in other functions. NCIT:C13275|galen:Saliva|EMAPA:36536|MA:0002507|FMA:59862|CALOHA:TS-0891|OpenCyc:Mx4rvVjJ95wpEbGdrcN5Y29ycA|ENVO:02000036|UMLS:C0036087|MAT:0000444|MESH:D012463|GAID:1167|BTO:0001202 hp.json saliva molecularis|saliva atomaris|salivary gland secretion|sailva normalis http://purl.obolibrary.org/obo/UBERON_0001836 uberon_slim UBERON:0001839 biolink:AnatomicalEntity bony labyrinth A system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted]. AAO:0011078|EV:0100362|UMLS:C0458699|CALOHA:TS-2080|BTO:0004685|MA:0000238|NCIT:C33227|EMAPA:36580|FMA:60179|VHOG:0001219|XAO:0000193 hp.json osseous labyrinth|osseus labyrinth|labyrinthus osseus http://purl.obolibrary.org/obo/UBERON_0001839 uberon_slim|pheno_slim UBERON:0001838 biolink:AnatomicalEntity sublingual duct A duct of a sublingual gland. FMA:59983|EMAPA:36564|MA:0002699|BTO:0004558 hp.json http://purl.obolibrary.org/obo/UBERON_0001838 uberon_slim|pheno_slim UBERON:0001833 biolink:AnatomicalEntity lip One of the two fleshy folds which surround the opening of the mouth. UMLS:C0023759|galen:Lip|GAID:76|MESH:D008046|SCTID:181221003|Wikipedia:Lip|EMAPA:32839|OpenCyc:Mx4rvVi4U5wpEbGdrcN5Y29ycA|MA:0000343|BTO:0001647|ZFA:0007006|FMA:59816|TAO:0007006|NCIT:C12220|VHOG:0000677|CALOHA:TS-0558 hp.json labia oris|lips|labia oris http://purl.obolibrary.org/obo/UBERON_0001833 uberon_slim|vertebrate_core|pheno_slim UBERON:0001832 biolink:AnatomicalEntity sublingual gland The small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland. MESH:D013361|EV:0100062|GAID:941|VHOG:0000363|MA:0001588|FMA:59791|EMAPA:18809|BTO:0001315|NCIT:C12234|CALOHA:TS-0987|UMLS:C0038553 hp.json ductus sublingualis|submaxillary gland|sublingual salivary gland|glandula sublingualis|Rivinus gland|Rivinus' gland http://purl.obolibrary.org/obo/UBERON_0001832 uberon_slim|pheno_slim UBERON:0001835 biolink:AnatomicalEntity lower lip Lip that covers the lower portion of the mouth.[TAO]. EHDAA2:0001020|MA:0000921|Wikipedia:Lower_lip|UMLS:C0458583|TAO:0002060|OpenCyc:Mx4rv842UpwpEbGdrcN5Y29ycA|NCIT:C94572|EMAPA:17909|ZFA:0005225|FMA:59818|SCTID:245777007 hp.json labium inferius oris|lower jaw lip|labium inferius oris|lower jaw lip http://purl.obolibrary.org/obo/UBERON_0001835 uberon_slim|vertebrate_core|pheno_slim UBERON:0001834 biolink:AnatomicalEntity upper lip Lip that covers the upper portion of the mouth.[TAO]. OpenCyc:Mx4rvWPv7pwpEbGdrcN5Y29ycA|VHOG:0001750|ZFA:0005226|MA:0000919|FMA:59817|TAO:0001970|EMAPA:17925 hp.json labium superius oris|upper jaw lip http://purl.obolibrary.org/obo/UBERON_0001834 uberon_slim|vertebrate_core|pheno_slim HP:0006009 biolink:PhenotypicFeature Broad phalanx Increased side-to-side width of one or more phalanges of the fingers or toes. UMLS:C1855185 hp.json Wide digital bones|Widened phalanges|Wide phalanges|Broad phalanges http://purl.obolibrary.org/obo/HP_0006009 HP:0008668 biolink:PhenotypicFeature Gonadal dysgenesis, male Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation. UMLS:C0018054|MSH:D006061 hp.json 46,xy gonadal dysgenesis http://purl.obolibrary.org/obo/HP_0008668 HP:0006006 biolink:PhenotypicFeature Hypotrophy of the small hand muscles UMLS:C1843228 hp.json Degeneration of small hand muscles http://purl.obolibrary.org/obo/HP_0006006 HP:0008669 biolink:PhenotypicFeature Abnormal spermatogenesis Incomplete maturation or aberrant formation of the male gametes. UMLS:C0520933|SNOMEDCT_US:4529005|UMLS:C4020789 hp.json Impaired spermatogenesis|Abnormal sperm development http://purl.obolibrary.org/obo/HP_0008669 HP:0006008 biolink:PhenotypicFeature Unilateral brachydactyly UMLS:C1868164|UMLS:C4280467 hp.json Short digits on one side http://purl.obolibrary.org/obo/HP_0006008 UBERON:0001840 biolink:AnatomicalEntity semicircular canal One of three half-circular, interconnected tubes located inside each ear[WP]. VHOG:0001144|BTO:0003383|UMLS:C0036622|ZFA:0000431|XAO:0000198|CALOHA:TS-2164|MESH:D012665|TAO:0000431|EMAPA:32832|EV:0100365|FMA:60186|AAO:0011098|GAID:776|MA:0000249|NCIT:C33527 hp.json ductus semicirculares|scc|semicircular ducts|semicircular canals|canalis semicircularis http://purl.obolibrary.org/obo/UBERON_0001840 uberon_slim|vertebrate_core|pheno_slim HP:0008664 biolink:PhenotypicFeature Urethral sphincter sclerosis UMLS:C4024643 hp.json http://purl.obolibrary.org/obo/HP_0008664 HP:0008663 biolink:PhenotypicFeature Renal sarcoma A sarcoma of the kidney. SNOMEDCT_US:254918001|NCIT:C3158|UMLS:C0346251 hp.json http://purl.obolibrary.org/obo/HP_0008663 HP:0008666 biolink:PhenotypicFeature Impaired histidine renal tubular absorption UMLS:C4024642 hp.json http://purl.obolibrary.org/obo/HP_0008666 HP:0008665 biolink:PhenotypicFeature Clitoral hypertrophy Hypertrophy of the clitoris. UMLS:C0156394|SNOMEDCT_US:80212005 hp.json Prominent clitoris|Hypertrophic clitoris|Enlarged clitoris|Clitoromegaly|Clitoral enlargement http://purl.obolibrary.org/obo/HP_0008665 HP:0008660 biolink:PhenotypicFeature Renotubular dysgenesis A developmental defect characterized by absence or poor development of proximal renal tubules. UMLS:C0266313|MSH:C537048|SNOMEDCT_US:702397002 hp.json Renal tubular dysgenesis http://purl.obolibrary.org/obo/HP_0008660 HP:0006000 biolink:PhenotypicFeature Ureteral obstruction Obstruction of the flow of urine through the ureter. Fyler:4492|UMLS:C0041956|MSH:D014517|SNOMEDCT_US:20018005 hp.json http://purl.obolibrary.org/obo/HP_0006000 HP:0008661 biolink:PhenotypicFeature Urethral stenosis Abnormal narrowing of the urethra. SNOMEDCT_US:76618002|SNOMEDCT_US:236647003|MSH:D014525|UMLS:C0041974 hp.json Narrowing of the urethra http://purl.obolibrary.org/obo/HP_0008661 GO:0048469 biolink:BiologicalProcess cell maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. hp.json functional differentiation http://purl.obolibrary.org/obo/GO_0048469 goslim_pir GO:0048468 biolink:BiologicalProcess cell development The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. hp.json terminal differentiation http://purl.obolibrary.org/obo/GO_0048468 goslim_candida GO:0036477 biolink:CellularComponent somatodendritic compartment The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon. hp.json http://purl.obolibrary.org/obo/GO_0036477 GO:0061448 biolink:BiologicalProcess connective tissue development The progression of a connective tissue over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0061448 GO:0048477 biolink:BiologicalProcess oogenesis The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster. Wikipedia:Oogenesis hp.json ovum development http://purl.obolibrary.org/obo/GO_0048477 GO:0097402 biolink:BiologicalProcess neuroblast migration The orderly movement of a neuroblast from one site to another, often during the development of a multicellular organism or multicellular structure. A neuroblast is any cell that will divide and give rise to a neuron. hp.json http://purl.obolibrary.org/obo/GO_0097402 GO:0048486 biolink:BiologicalProcess parasympathetic nervous system development The process whose specific outcome is the progression of the parasympathetic nervous system over time, from its formation to the mature structure. The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia. hp.json http://purl.obolibrary.org/obo/GO_0048486 GO:0048485 biolink:BiologicalProcess sympathetic nervous system development The process whose specific outcome is the progression of the sympathetic nervous system over time, from its formation to the mature structure. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter. hp.json http://purl.obolibrary.org/obo/GO_0048485 GO:0048483 biolink:BiologicalProcess autonomic nervous system development The process whose specific outcome is the progression of the autonomic nervous system over time, from its formation to the mature structure. The autonomic nervous system is composed of neurons that are not under conscious control, and is comprised of two antagonistic components, the sympathetic and parasympathetic nervous systems. The autonomic nervous system regulates key functions including the activity of the cardiac (heart) muscle, smooth muscles (e.g. of the gut), and glands. hp.json http://purl.obolibrary.org/obo/GO_0048483 GO:0061462 biolink:BiologicalProcess protein localization to lysosome A process in which a protein is transported to, or maintained in, a location within a lysosome. hp.json http://purl.obolibrary.org/obo/GO_0061462 GO:0061450 biolink:BiologicalProcess trophoblast cell migration Trophoblast cell migration that is accomplished by extension and retraction of a pseudopodium. Trophoblast cells line the outside of the blastocyst. hp.json http://purl.obolibrary.org/obo/GO_0061450 GO:0061453 biolink:BiologicalProcess interstitial cell of Cajal differentiation The process in which a relatively unspecialized cell acquires specialized features of an interstitial cell of Cajal. An interstitial cell of Cajal is an intestinal neuroepithelial cell that serves as a pacemaker to trigger gut contraction. hp.json ICC differentiation http://purl.obolibrary.org/obo/GO_0061453 GO:0061458 biolink:BiologicalProcess reproductive system development The progression of the reproductive system over time from its formation to the mature structure. The reproductive system consists of the organs that function in reproduction. hp.json http://purl.obolibrary.org/obo/GO_0061458 PR:000011178 biolink:Protein nuclear factor NF-kappa-B p100 subunit A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. hp.json LYT10|nuclear factor of kappa light polypeptide gene enhancer in B-cells 2|lyt10|lymphocyte translocation chromosome 10 protein|H2TF1|oncogene Lyt-10|NFKB2|DNA-binding factor KBF2 http://purl.obolibrary.org/obo/PR_000011178 UBERON:0001902 biolink:AnatomicalEntity epithelium of small intestine An epithelium that is part of a small intestine [Automatically generated definition]. ZFA:0005127|MA:0001553|FMA:62017|TAO:0005127|BTO:0001258|EMAPA:35778|CALOHA:TS-2104 hp.json epithelial tissue of small intestine|mid intestine epithelium|small intestine epithelial tissue|epithelium of small bowel|small intestine epithelium|small intestinal epithelium|epithelial tissue of small bowel|small bowel epithelial tissue|small bowel epithelium http://purl.obolibrary.org/obo/UBERON_0001902 vertebrate_core UBERON:0001905 biolink:AnatomicalEntity pineal body A midline, cone like structure located in the dorso-caudal roof of the 3rd ventricle, attached by peduncles to the habenular and posterior commissures. The stalk contains nerve fibers, blood vessels, connective tissue and parenchymal cells (Paxinos, The Rat Central Nervous System, 2nd ed, pg 399). UMLS:C0031939|MAT:0000448|OpenCyc:Mx4rv2FMGpwpEbGdrcN5Y29ycA|BAMS:Pi|GAID:453|VHOG:0000051|EFO:0000865|NLXANAT:1010009|BIRNLEX:1184|EHDAA2:0001466|MESH:D010870|MBA:953|MA:0000175|NCIT:C12398|EHDAA:7523|galen:PinealGland|DHBA:10460|EV:0100221|XAO:0000160|UMLS:C0031939|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=297|CALOHA:TS-0789|EV:0100131|FMA:62033|HBA:4532|BTO:0001067|ZFA:0000019|EMAPA:18778|BM:P|AAO:0010549|BAMS:PIN|TAO:0000019 hp.json glandula pinealis|conarium|stirnorgan|pineal gland (Galen)|epiphysis cerebri|pineal|pineal gland|pineal organ|epiphysis|glandula pinealis|Pi|frontal organ|corpus pineale http://purl.obolibrary.org/obo/UBERON_0001905 vertebrate_core|organ_slim|pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0001901 biolink:AnatomicalEntity epithelium of trachea The epithelial lining of the trachea which contains numerous ciliated cells. MA:0001862|UMLS:C1179002|NCIT:C33797|EHDAA:5007|CALOHA:TS-1061|FMA:62015|EHDAA2:0002069|EMAPA:18409|BTO:0001389|EMAPA:16855|VHOG:0001045 hp.json trachea epithelial tissue|epithelial tissue of windpipe|epithelium of windpipe|trachea epithelium|windpipe epithelium|epithelial tissue of trachea|windpipe epithelial tissue|tracheal epithelium http://purl.obolibrary.org/obo/UBERON_0001901 pheno_slim|human_reference_atlas GO:0061484 biolink:BiologicalProcess hematopoietic stem cell homeostasis Any biological process involved in the maintenance of the steady-state number of hematopoietic stem cells within a population of cells. hp.json http://purl.obolibrary.org/obo/GO_0061484 UBERON:0001908 biolink:AnatomicalEntity optic tract Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF]. DHBA:10589|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=460|NCIT:C33218|BIRNLEX:1684|BAMS:opt|VHOG:0001164|DMBA:17785|XAO:0004101|ZFA:0000252|EMAPA:35617|MA:0001099|TAO:0000252|MESH:D014795|BM:Tel-OT|MBA:125|HBA:9309|FMA:62046|UMLS:C0152405|GAID:735|UMLS:C0152405|EMAPA:16678 hp.json tractus opticus|optic lemniscus|optic tracts|tractus optici|visual pathway http://purl.obolibrary.org/obo/UBERON_0001908 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas GO:0097435 biolink:BiologicalProcess supramolecular fiber organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a supramolecular fiber, a polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. hp.json fibril organization|extracellular fibril organisation|extracellular fibril organization and biogenesis|fibril organisation|extracellular fibril organization http://purl.obolibrary.org/obo/GO_0097435 HP:0008609 biolink:PhenotypicFeature Morphological abnormality of the middle ear An abnormality of the morphology or structure of the middle ear. UMLS:C1857456 hp.json Middle ear malformation|Morphological abnormality of the middle ear http://purl.obolibrary.org/obo/HP_0008609 HP:0008606 biolink:PhenotypicFeature Supraauricular pit Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. UMLS:C1862059 hp.json Supraauricular sinus|Pit above the ear|Supraauricular sinuses|Supraauricular fistula http://purl.obolibrary.org/obo/HP_0008606 NCBITaxon:554915 biolink:OrganismalEntity Amoebozoa PMID:30257078|PMID:23020233|GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_554915 HP:0008605 biolink:PhenotypicFeature Unilateral external ear deformity UMLS:C1834043 hp.json Deformed external ear on one side http://purl.obolibrary.org/obo/HP_0008605 HP:0008608 biolink:PhenotypicFeature Hypertrophic auricular cartilage UMLS:C1857263 hp.json http://purl.obolibrary.org/obo/HP_0008608 HP:0008607 biolink:PhenotypicFeature Progressive conductive hearing impairment A progressive type of conductive deafness. UMLS:C1861325 hp.json Progressive conductive deafness http://purl.obolibrary.org/obo/HP_0008607 GO:0097447 biolink:CellularComponent dendritic tree The entire complement of dendrites for a neuron, consisting of each primary dendrite and all its branches. NIF_Subcellular:sao172297168 hp.json http://purl.obolibrary.org/obo/GO_0097447 UBERON:5106049 biolink:AnatomicalEntity digit 2 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 2 plus the associated metapodial element. hp.json digit 2 skeleton|digit II digitopodial skeleton|digit 2 http://purl.obolibrary.org/obo/UBERON_5106049 UBERON:5106048 biolink:AnatomicalEntity digit 1 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 1 plus the associated metapodial element. hp.json digit 1 skeleton|digit I digitopodial skeleton|digit 1 http://purl.obolibrary.org/obo/UBERON_5106048 UBERON:5106050 biolink:AnatomicalEntity digit 3 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 3 plus the associated metapodial element. hp.json digit 3|digit III digitopodial skeleton|digit 3 skeleton http://purl.obolibrary.org/obo/UBERON_5106050 UBERON:5106052 biolink:AnatomicalEntity digit 5 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 5 plus the associated metapodial element. hp.json digit 5 skeleton|digit V digitopodial skeleton|digit 5 http://purl.obolibrary.org/obo/UBERON_5106052 UBERON:5106051 biolink:AnatomicalEntity digit 4 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 4 plus the associated metapodial element. hp.json digit 4 skeleton|digit IV digitopodial skeleton|digit 4 http://purl.obolibrary.org/obo/UBERON_5106051 GO:0097427 biolink:CellularComponent microtubule bundle An arrangement of closely apposed microtubules running parallel to each other. NIF_Subcellular:sao1872343973 hp.json microtubule fascicle http://purl.obolibrary.org/obo/GO_0097427 CHEBI:26822 biolink:ChemicalSubstance sulfide Any sulfur molecular entity that involves either covalently bonded or anionic sulfur. hp.json sulphides http://purl.obolibrary.org/obo/CHEBI_26822 3_STAR CHEBI:26820 biolink:ChemicalSubstance sulfates Salts and esters of sulfuric acid hp.json sulfuric acid derivative|sulphates|sulfates http://purl.obolibrary.org/obo/CHEBI_26820 3_STAR HP:0200136 biolink:PhenotypicFeature Oral-pharyngeal dysphagia UMLS:C0267071|SNOMEDCT_US:71457002|MSH:D003680 hp.json Oral pharyngeal dysphagia|Oropharyngeal dysphagia http://purl.obolibrary.org/obo/HP_0200136 CHEBI:38808 biolink:ChemicalSubstance calcium channel modulator A membrane transport modulator that is able to regulate intracellular calcium levels. hp.json calcium channel modulators http://purl.obolibrary.org/obo/CHEBI_38808 3_STAR CHEBI:38807 biolink:ChemicalSubstance calcium channel agonist Agents that increase calcium influx into calcium channels of excitable tissues. hp.json calcium channel agonists|calcium channel activators|calcium channel activator http://purl.obolibrary.org/obo/CHEBI_38807 3_STAR HP:0200135 biolink:PhenotypicFeature obsolete Macrocephaly due to hydrocephalus hp.json http://purl.obolibrary.org/obo/HP_0200135 HP:0200134 biolink:PhenotypicFeature Epileptic encephalopathy A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. UMLS:C0543888 hp.json Convulsive encephalopathy http://purl.obolibrary.org/obo/HP_0200134 HP:0200133 biolink:PhenotypicFeature Lumbosacral meningocele UMLS:C2675557 hp.json http://purl.obolibrary.org/obo/HP_0200133 HP:0200138 biolink:PhenotypicFeature Bilateral choanal atresia/stenosis UMLS:C4021884 hp.json http://purl.obolibrary.org/obo/HP_0200138 GO:2000068 biolink:BiologicalProcess regulation of defense response to insect Any process that modulates the frequency, rate or extent of defense response to insect. hp.json regulation of physiological defense response to insect http://purl.obolibrary.org/obo/GO_2000068 PR:000001786 biolink:Protein prominin-1 A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. hp.json Prom|PROM1|CD133|MSTP061|prominin-like protein 1|antigen AC133|PROML1|antigen AC133 homolog http://purl.obolibrary.org/obo/PR_000001786 PR:000001785 biolink:Protein prominin A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. PIRSF:PIRSF017831|PANTHER:PTHR22730 hp.json http://purl.obolibrary.org/obo/PR_000001785 CHEBI:26833 biolink:ChemicalSubstance sulfur atom KEGG:D06527|CAS:7704-34-9|PPDB:605|KEGG:C00087|CAS:7704-34-9|WebElements:S hp.json sulfur|S|Elemental sulfur|sulfur|sulfur|theion|Schwefel|S|soufre|16S|sulphur|azufre http://purl.obolibrary.org/obo/CHEBI_26833 3_STAR CHEBI:26834 biolink:ChemicalSubstance sulfur-containing amino acid hp.json sulfur-containing amino acids http://purl.obolibrary.org/obo/CHEBI_26834 3_STAR CHEBI:26835 biolink:ChemicalSubstance sulfur molecular entity hp.json sulfur molecular entities|sulfur molecular entity http://purl.obolibrary.org/obo/CHEBI_26835 3_STAR CHEBI:26836 biolink:ChemicalSubstance sulfuric acid A sulfur oxoacid that consists of two oxo and two hydroxy groups joined covalently to a central sulfur atom. PMID:19397353|PMID:22047659|KEGG:C00059|PPDB:606|CAS:7664-93-9|PMID:22364556|CAS:7664-93-9|PMID:22435616|PMID:22296037|KEGG:D05963|KNApSAcK:C00007530|PMID:13568755|Reaxys:2037554|PMID:22136045|PMID:16122922|PMID:22204399|Wikipedia:Sulfuric_acid|PMID:22267186|MolBase:4|Gmelin:2122|CAS:7664-93-9 hp.json Acide sulfurique|sulfuric acid|Acidum sulfuricum|hydrogen tetraoxosulfate(2-)|dihydroxidodioxidosulfur|dihydrogen tetraoxosulfate|tetraoxosulfuric acid|Sulfuric acid|[S(OH)2O2]|Schwefelsaeureloesungen|Acido sulfurico|hydrogen tetraoxosulfate(VI)|sulphuric acid|sulfuric acid|[SO2(OH)2]|H2SO4 http://purl.obolibrary.org/obo/CHEBI_26836 3_STAR HP:0200143 biolink:PhenotypicFeature Megaloblastic erythroid hyperplasia UMLS:C1334688|UMLS:C1850020 hp.json Bone marrow biopsy shows megaloblastic erythroid hyperplasia http://purl.obolibrary.org/obo/HP_0200143 HP:0200141 biolink:PhenotypicFeature Small, conical teeth UMLS:C4280284|UMLS:C1851883|UMLS:C4280285 hp.json Small, pointed teeth|Conical microdontia|Small, peg shaped teeth|Small, cone shaped teeth http://purl.obolibrary.org/obo/HP_0200141 UBERON:0035295 biolink:AnatomicalEntity left ear The organ of hearing located on the left side of the head[ncit,modified]. FMA:53642|NCIT:C81259 hp.json http://purl.obolibrary.org/obo/UBERON_0035295 HP:0200147 biolink:PhenotypicFeature Neuronal loss in basal ganglia A reduction in the number of nerve cells in the basal ganglia. UMLS:C2750913 hp.json http://purl.obolibrary.org/obo/HP_0200147 HP:0200146 biolink:PhenotypicFeature Mucoid extracellular matrix accumulation An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.). MSH:C536230|UMLS:C0392775|SNOMEDCT_US:42182000|SNOMEDCT_US:45894003|SNOMEDCT_US:234021009 hp.json Cystic medial necrosis of the aorta|MEMA http://purl.obolibrary.org/obo/HP_0200146 HP:0200144 biolink:PhenotypicFeature obsolete Anaphylactoid purpura hp.json http://purl.obolibrary.org/obo/HP_0200144 HP:0200149 biolink:PhenotypicFeature CSF lymphocytic pleiocytosis An increased lymphocyte count in the cerebrospinal fluid. UMLS:C0427877|SNOMEDCT_US:167719009 hp.json CSF lymphocytosis http://purl.obolibrary.org/obo/HP_0200149 HP:0200148 biolink:PhenotypicFeature Abnormal liver function tests during pregnancy UMLS:C4021883|UMLS:C2750654 hp.json Abnormal liver function tests during pregnancy|Abnormal liver function tests during pregnancy, resolves postpartum http://purl.obolibrary.org/obo/HP_0200148 GO:0120229 biolink:BiologicalProcess protein localization to motile cilium A process in which a protein is transported to, or maintained in, a location within a motile cilium. hp.json protein localization to nonmotile primary cilium http://purl.obolibrary.org/obo/GO_0120229 GO:0120222 biolink:BiologicalProcess regulation of blastocyst development Any process that modulates the frequency, rate or extent of blastocyst development. hp.json http://purl.obolibrary.org/obo/GO_0120222 GO:0120223 biolink:BiologicalProcess larynx morphogenesis The process in which the larynx is generated and organized. The larynx is a continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration. hp.json laryngeal morphogenesis http://purl.obolibrary.org/obo/GO_0120223 GO:0120224 biolink:BiologicalProcess larynx development The biological process whose specific outcome is the progression of a larynx from an initial condition to its mature state. This process begins with the formation of the larynx and ends with the mature structure. A larynx is a continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration. hp.json http://purl.obolibrary.org/obo/GO_0120224 HGNC:13633 biolink:Gene ADIPOQ (human) A protein coding gene ADIPOQ in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633 UBERON:0011298 biolink:AnatomicalEntity submucosa of uterine tube The submucous layer of the wall of the uterine tube. SCTID:245489008|BTO:0002116 hp.json tela submucosa tubae uterinae|submucosa of fallopian tube|submucous layer of uterine tube|uterine submucosa http://purl.obolibrary.org/obo/UBERON_0011298 HP:0200114 biolink:PhenotypicFeature Metabolic alkalosis Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. UMLS:C0220983|SNOMEDCT_US:1388004 hp.json http://purl.obolibrary.org/obo/HP_0200114 HP:0200113 biolink:PhenotypicFeature Aphalangy of hands and feet UMLS:C4021887 hp.json Aphalangy, hands and feet http://purl.obolibrary.org/obo/HP_0200113 HP:0200111 biolink:PhenotypicFeature Absent stapes head UMLS:C4021888 hp.json http://purl.obolibrary.org/obo/HP_0200111 HP:0200118 biolink:PhenotypicFeature Malabsorption of Vitamin B12 UMLS:C1850013|UMLS:C0750292 hp.json Vitamin B12 deficiency caused by intestinal malabsorption|Malabsorption of cyanocobalamin http://purl.obolibrary.org/obo/HP_0200118 HP:0200117 biolink:PhenotypicFeature Recurrent upper and lower respiratory tract infections Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections. UMLS:C1842777 hp.json http://purl.obolibrary.org/obo/HP_0200117 HP:0200116 biolink:PhenotypicFeature Distal ileal atresia UMLS:C3279409 hp.json http://purl.obolibrary.org/obo/HP_0200116 UBERON:0011299 biolink:AnatomicalEntity white matter of telencephalon A partion of white matter that is part of a telencephalon. This can be further subdivided in some species, for example, into hemisphere white matter and the corpus callosum. ZFA:0000597|TAO:0000597|BIRNLEX:1075|FMA:83930|HBA:9230|HBA:9219 hp.json telencephalic white matter|predominantly white regional part of telencephalon|telencephalic tracts|telencephalic tract/commissure http://purl.obolibrary.org/obo/UBERON_0011299 HP:0200119 biolink:PhenotypicFeature Acute hepatitis Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders. SNOMEDCT_US:37871000|UMLS:C0267797 hp.json Acute liver inflammation http://purl.obolibrary.org/obo/HP_0200119 UBERON:0011282 biolink:AnatomicalEntity nail of pedal digit 5 A nail that is part of a pedal digit 5. FMA:54356|EMAPA:18743 hp.json nail of fifth toe|nail of little toe|nail of pedal digit V|claw of digit 5 of hind-paw|little toe nail|nail plate of little toe http://purl.obolibrary.org/obo/UBERON_0011282 pheno_slim HP:0200120 biolink:PhenotypicFeature Chronic active hepatitis Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. SNOMEDCT_US:197284004|MSH:D006521|UMLS:C0520463 hp.json Hepatitis, chronic active http://purl.obolibrary.org/obo/HP_0200120 UBERON:0011281 biolink:AnatomicalEntity nail of pedal digit 4 A nail that is part of a pedal digit 4. FMA:54353|EMAPA:18742 hp.json nail plate of fourth toe|claw of digit 4 of hind-paw|nail of fourth toe|fourth toe nail|nail of pedal digit IV http://purl.obolibrary.org/obo/UBERON_0011281 UBERON:0011280 biolink:AnatomicalEntity nail of pedal digit 3 A nail that is part of a pedal digit 3. EMAPA:18741|FMA:54350 hp.json nail of pedal digit III|third toe nail|claw of digit 3 of hind-paw|nail of third toe|nail plate of third toe http://purl.obolibrary.org/obo/UBERON_0011280 HP:0200125 biolink:PhenotypicFeature Mitochondrial respiratory chain defects UMLS:C2751582 hp.json http://purl.obolibrary.org/obo/HP_0200125 HP:0200124 biolink:PhenotypicFeature Chronic hepatitis due to cryptosporidium infection Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue. UMLS:C3808820 hp.json Hepatitis, chronic, due to cryptosporidium infection http://purl.obolibrary.org/obo/HP_0200124 HP:0200123 biolink:PhenotypicFeature Chronic hepatitis Hepatitis that lasts for more than six months. UMLS:C0019189|SNOMEDCT_US:76783007|MSH:D006521 hp.json Chronic liver inflammation http://purl.obolibrary.org/obo/HP_0200123 HP:0200122 biolink:PhenotypicFeature Atypical or prolonged hepatitis UMLS:C1848456 hp.json Atypical or prolonged liver inflammation http://purl.obolibrary.org/obo/HP_0200122 HP:0200129 biolink:PhenotypicFeature obsolete Calcific mitral stenosis hp.json http://purl.obolibrary.org/obo/HP_0200129 HP:0200128 biolink:PhenotypicFeature Biventricular hypertrophy Thickening of the heart walls in both ventricles. UMLS:C0281788 hp.json http://purl.obolibrary.org/obo/HP_0200128 UBERON:0011289 biolink:AnatomicalEntity pharyngobasilar fascia The pharyngeal aponeurosis (or pharyngobasilar fascia, or fibrous coat), is situated between the mucous and muscular layers. It is thick above where the muscular fibers are wanting, and is firmly connected to the basilar portion of the occipital and the petrous portions of the temporal bones. As it descends it diminishes in thickness, and is gradually lost. It is strengthened posteriorly by a strong fibrous band, which is attached above to the pharyngeal spine on the under surface of the basilar portion of the occipital bone, and passes downward, forming a median raphe, which gives attachment to the Constrictores pharyngis. FMA:55074 hp.json pharyngeal aponeurosis|pharyngeal aponeurosis http://purl.obolibrary.org/obo/UBERON_0011289 HP:0200127 biolink:PhenotypicFeature Atrial cardiomyopathy Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations. UMLS:C4021885 hp.json http://purl.obolibrary.org/obo/HP_0200127 HP:0200126 biolink:PhenotypicFeature obsolete Amyloid cardiomyopathy hp.json http://purl.obolibrary.org/obo/HP_0200126 CHEBI:26819 biolink:ChemicalSubstance sulfuric ester An ester of an alcohol and sulfuric acid. hp.json sulfuric acid ester|sulfate ester|sulfuric acid esters http://purl.obolibrary.org/obo/CHEBI_26819 3_STAR GO:2000027 biolink:BiologicalProcess regulation of animal organ morphogenesis Any process that modulates the frequency, rate or extent of animal organ morphogenesis. hp.json regulation of histogenesis and organogenesis http://purl.obolibrary.org/obo/GO_2000027 CHEBI:167559 biolink:ChemicalSubstance glycan Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. hp.json glycans http://purl.obolibrary.org/obo/CHEBI_167559 3_STAR PR:000025797 biolink:Protein integrin alpha lacking A domain An integrin alpha that lacks an A domain. This type of integrin is often cleaved into heavy and light chains. PIRSF:PIRSF005666 hp.json fam:ITGAsansA http://purl.obolibrary.org/obo/PR_000025797 PR:000025796 biolink:Protein integrin alpha A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. hp.json http://purl.obolibrary.org/obo/PR_000025796 GO:2000026 biolink:BiologicalProcess regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of multicellular organismal development. hp.json http://purl.obolibrary.org/obo/GO_2000026 HP:0200102 biolink:PhenotypicFeature Sparse or absent eyelashes UMLS:C1835157|UMLS:C1862855|UMLS:C3551431 hp.json Sparse or absent eyelashes|Sparse to absent eyelashes|Partial to total absence of eyelashes http://purl.obolibrary.org/obo/HP_0200102 HP:0200101 biolink:PhenotypicFeature Decreased/absent ankle reflexes UMLS:C1850816 hp.json Decreased/absent ankle reflexes|Decreased or absent ankle reflexes http://purl.obolibrary.org/obo/HP_0200101 HP:0200107 biolink:PhenotypicFeature Shortened inner dynein arms UMLS:C4021890 hp.json http://purl.obolibrary.org/obo/HP_0200107 HP:0200106 biolink:PhenotypicFeature Absent/shortened dynein arms UMLS:C4021891 hp.json http://purl.obolibrary.org/obo/HP_0200106 HP:0200105 biolink:PhenotypicFeature Absent fifth toenail UMLS:C4021892 hp.json Absent fifth toenail|Missing fifth toenail http://purl.obolibrary.org/obo/HP_0200105 HP:0200104 biolink:PhenotypicFeature Absent fifth fingernail Absence of nail of little finger. UMLS:C4020917 hp.json Absent fifth fingernail|Absent nail of fifth finger http://purl.obolibrary.org/obo/HP_0200104 HP:0200109 biolink:PhenotypicFeature Absent/shortened outer dynein arms UMLS:C2750161 hp.json Respiratory cilia have shortened or absent outer dynein arms http://purl.obolibrary.org/obo/HP_0200109 HP:0200108 biolink:PhenotypicFeature Shortened outer dynein arms UMLS:C4021889 hp.json http://purl.obolibrary.org/obo/HP_0200108 GO:2000035 biolink:BiologicalProcess regulation of stem cell division Any process that modulates the frequency, rate or extent of stem cell division. hp.json regulation of stem cell renewal http://purl.obolibrary.org/obo/GO_2000035 UBERON:0035267 biolink:AnatomicalEntity neck of gallbladder The narrowest portion of the gallbladder and distal to the cystic duct. FMA:14538|NCIT:C32649 hp.json gallbladder neck|cervix of gallbladder http://purl.obolibrary.org/obo/UBERON_0035267 GO:0036484 biolink:BiologicalProcess trunk neural crest cell migration The characteristic movement of trunk neural crest cells from the neural tube to other locations in the vertebrate embryo. hp.json trunk NCC migration http://purl.obolibrary.org/obo/GO_0036484 HP:0200095 biolink:PhenotypicFeature obsolete Anterior open bite hp.json http://purl.obolibrary.org/obo/HP_0200095 HP:0200094 biolink:PhenotypicFeature Frontal open bite UMLS:C1857012 hp.json http://purl.obolibrary.org/obo/HP_0200094 HP:0008361 biolink:PhenotypicFeature Corticospinal tract pallor UMLS:C4024690 hp.json http://purl.obolibrary.org/obo/HP_0008361 HP:0008360 biolink:PhenotypicFeature Neonatal hypoproteinemia A neonatal decreased concentration of proteins in the blood. UMLS:C4024691 hp.json http://purl.obolibrary.org/obo/HP_0008360 HP:0200099 biolink:PhenotypicFeature obsolete Peripheral retinal pigmentation abnormalities hp.json http://purl.obolibrary.org/obo/HP_0200099 UBERON:0001546 biolink:AnatomicalEntity posterior tibial vein A vein of the lower limb carries blood from the posterior compartment and plantar surface of the foot to the popliteal vein which it forms when it joins with the anterior tibial vein. Like most deep veins, the posterior tibial vein is accompanied by an artery of the same name, the posterior tibial artery, along its course. [WP,unvetted]. FMA:44332|UMLS:C0226832|EMAPA:37183|MA:0002245|galen:PosteriorTibialVein|OpenCyc:Mx4rwA9GD5wpEbGdrcN5Y29ycA|NCIT:C33386 hp.json venae tibiales posteriores http://purl.obolibrary.org/obo/UBERON_0001546 human_reference_atlas|uberon_slim HP:0200098 biolink:PhenotypicFeature Absent skin pigmentation Lack of skin pigmentation (coloring). UMLS:C2673954 hp.json Absent skin pigmentation|Lack of skin coloration http://purl.obolibrary.org/obo/HP_0200098 UBERON:0001549 biolink:AnatomicalEntity dorsal metatarsal vein The dorsal metatarsal veins are veins which drain the metatarsus of the foot. [WP,unvetted]. FMA:44377|EMAPA:37143|NCIT:C52689|MA:0002105|UMLS:C0835053 hp.json metatarsal vein|venae metatarsales dorsales http://purl.obolibrary.org/obo/UBERON_0001549 human_reference_atlas HP:0200097 biolink:PhenotypicFeature Oral mucosal blisters Blisters arising in the mouth. UMLS:C0853945 hp.json Oral mucosal blisters|Blisters of mouth|Bullae of oral mucosa|Oral mucosa blisters|Blebs of oral mucosa|Oral blistering http://purl.obolibrary.org/obo/HP_0200097 HP:0200096 biolink:PhenotypicFeature Triangular-shaped open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. UMLS:C1859292 hp.json Triangular-shaped open mouth http://purl.obolibrary.org/obo/HP_0200096 HP:0033323 biolink:PhenotypicFeature Glomerular capillary wall duplication with cellular interposition Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. hp.json http://purl.obolibrary.org/obo/HP_0033323 HP:0033322 biolink:PhenotypicFeature Glomerular capillary wall duplication without cellular interposition Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. hp.json http://purl.obolibrary.org/obo/HP_0033322 HP:0033325 biolink:PhenotypicFeature Elevated circulating sebacic acid concentration Increased concentration of sebacic acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033325 HP:0033324 biolink:PhenotypicFeature Elevated circulating homovanillic acid concentration Increased concentration of homovanillic acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033324 HP:0033321 biolink:PhenotypicFeature Glomerular obsolescence Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. hp.json http://purl.obolibrary.org/obo/HP_0033321 HP:0033320 biolink:PhenotypicFeature Mesangial cell loss Loss of mesangial cells segmentally or globally. hp.json http://purl.obolibrary.org/obo/HP_0033320 UBERON:0013525 biolink:AnatomicalEntity stomach lumen The anatomical space that is enclosed by a stomach. FMA:14585|EMAPA:18395 hp.json gastric cavity|cavity of stomach http://purl.obolibrary.org/obo/UBERON_0013525 HP:0033327 biolink:PhenotypicFeature Nail psoriasis Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed. hp.json http://purl.obolibrary.org/obo/HP_0033327 UBERON:8300002 biolink:AnatomicalEntity left forelimb A forelimb that is on the left side of a pectoral complex. FMA:7186 hp.json http://purl.obolibrary.org/obo/UBERON_8300002 UBERON:0013526 biolink:AnatomicalEntity otocyst lumen An anatomical cavity that is part of a ear vesicle. EHDAA2:0004121|EMAPA:25363 hp.json lumen of otocyst http://purl.obolibrary.org/obo/UBERON_0013526 HP:0033326 biolink:PhenotypicFeature Elevated circulating hydroxyphenlyllactic acid concentration An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033326 UBERON:8300001 biolink:AnatomicalEntity right forelimb A forelimb that is on the right side of a pectoral complex. FMA:7185 hp.json http://purl.obolibrary.org/obo/UBERON_8300001 HP:0033329 biolink:PhenotypicFeature Abnormal postural reflex Anomaly of the physiological response to maintain the body's posture when movement and position is altered. hp.json Abnormal postural reaction http://purl.obolibrary.org/obo/HP_0033329 UBERON:8300004 biolink:AnatomicalEntity left hindlimb A hindlimb that is on the left side of a pelvic complex. FMA:7188 hp.json http://purl.obolibrary.org/obo/UBERON_8300004 HP:0033328 biolink:PhenotypicFeature Type II pneumocyte hyperplasia Increase in the number of type II pneumocytes. hp.json http://purl.obolibrary.org/obo/HP_0033328 UBERON:8300003 biolink:AnatomicalEntity right hindlimb A hindlimb that is on the right side of a pelvic complex. FMA:7187 hp.json http://purl.obolibrary.org/obo/UBERON_8300003 UBERON:0001554 biolink:AnatomicalEntity skin of hip A zone of skin that is part of a hip region. EMAPA:18148|FMA:45282|MA:0000658 hp.json zone of skin of hip region|zone of skin of regio coxae|hip region zone of skin|hip skin|regio coxae zone of skin|zone of skin of hip|hip zone of skin http://purl.obolibrary.org/obo/UBERON_0001554 HP:0008356 biolink:PhenotypicFeature obsolete Combined hyperlipidemia hp.json http://purl.obolibrary.org/obo/HP_0008356 PR:000001944 biolink:Protein transcription factor PU.1 A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. hp.json SPI1|Sfpi-1|SFFV proviral integration 1 protein|31 kDa-transforming protein|Sfpi1 http://purl.obolibrary.org/obo/PR_000001944 HP:0008358 biolink:PhenotypicFeature Hyperprolinemia An increased concentration of proline in the blood. UMLS:C0268528|SNOMEDCT_US:59655002 hp.json Prolinemia http://purl.obolibrary.org/obo/HP_0008358 UBERON:0001556 biolink:AnatomicalEntity lower urinary tract Subdivision of urinary system which consists of the urinary bladder and the urethra. MA:0002636|galen:LowerUrinaryTract|FMA:45659 hp.json http://purl.obolibrary.org/obo/UBERON_0001556 uberon_slim|pheno_slim UBERON:0001555 biolink:AnatomicalEntity digestive tract A tube extending from the mouth to the anus. EHDAA2:0000726|OpenCyc:Mx4rvVi0GpwpEbGdrcN5Y29ycA|EMAPA:16247|NCIT:C34082|ZFA:0000112|FBbt:00003125|BILA:0000083|TGMA:0001819|UMLS:C0017189|VHOG:0000309|TAO:0000112|BTO:0000545|galen:AlimentaryTract|MA:0000917|FMA:45615|BTO:0000511|AAO:0010023|WBbt:0005743|EHDAA:518 hp.json digestive tube|alimentary canal|enteric tract|gut|gut tube|digestive canal|alimentary tract http://purl.obolibrary.org/obo/UBERON_0001555 uberon_slim|vertebrate_core HP:0008357 biolink:PhenotypicFeature Reduced factor XIII activity Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. UMLS:C4024692 hp.json http://purl.obolibrary.org/obo/HP_0008357 UBERON:0025525 biolink:AnatomicalEntity motor system The part of the central nervous system that is involved with movement. NLXANAT:090805 hp.json motor system http://purl.obolibrary.org/obo/UBERON_0025525 HP:0008352 biolink:PhenotypicFeature Impaired platelet adhesion An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation. UMLS:C4024694 hp.json Impaired thrombocytes adhesion http://purl.obolibrary.org/obo/HP_0008352 PR:000001945 biolink:Protein transferrin receptor protein 1 A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. hp.json T9|TFRC|TfR1|Trfr|TfR|p90|CD71|TR http://purl.obolibrary.org/obo/PR_000001945 UBERON:0001552 biolink:AnatomicalEntity kidney arcuate artery One of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries. EMAPA:28215|FMA:70497|MA:0002583 hp.json arcuate artery|renal arcuate artery http://purl.obolibrary.org/obo/UBERON_0001552 uberon_slim|pheno_slim|human_reference_atlas HP:0008354 biolink:PhenotypicFeature Factor X activation deficiency Reduced ability to transform factor X into its activated form factor Xa. UMLS:C4024693 hp.json http://purl.obolibrary.org/obo/HP_0008354 UBERON:0001551 biolink:AnatomicalEntity vein of hindlimb zeugopod FMA:44561|MA:0002231|EMAPA:37231 hp.json sural vein http://purl.obolibrary.org/obo/UBERON_0001551 HP:0008353 biolink:PhenotypicFeature Neutral hyperaminoaciduria The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine. UMLS:C1856194 hp.json http://purl.obolibrary.org/obo/HP_0008353 HP:0008372 biolink:PhenotypicFeature Abnormality of vitamin A metabolism UMLS:C4024686 hp.json http://purl.obolibrary.org/obo/HP_0008372 HP:0008371 biolink:PhenotypicFeature Abnormal metatarsal ossification Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. UMLS:C4021543 hp.json Abnormal ossification involving metatarsal bones|Abnormal maturation of long bone of foot http://purl.obolibrary.org/obo/HP_0008371 UBERON:0001536 biolink:AnatomicalEntity left common carotid artery plus branches The leftmost of the two common carotid arteries, originating from the aortic arch in the thorax. OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rvg7rcJwpEbGdrcN5Y29ycA|OpenCyc:Mx4rdz4xcLVIEduAAAAOpmP6tw|Wikipedia:Left_common_carotid_artery|NCIT:C32956|FMA:4058|UMLS:C0226087|SCTID:362043008|EMAPA:35491|MA:0001927 hp.json trunk of left common carotid tree|left common carotid artery|left common carotid artery http://purl.obolibrary.org/obo/UBERON_0001536 human_reference_atlas|uberon_slim UBERON:0001535 biolink:AnatomicalEntity vertebral artery The first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck. NCIT:C12819|ZFA:0005033|TAO:0005033|OpenCyc:Mx4rvg_ir5wpEbGdrcN5Y29ycA|EMAPA:17314|EHDAA2:0002192|VHOG:0000263|EHDAA:5328|MESH:D014711|MA:0002077|UMLS:C0042559|GAID:518|FMA:3956 hp.json arteria vertebralis|vertebral arteries http://purl.obolibrary.org/obo/UBERON_0001535 human_reference_atlas|uberon_slim|vertebrate_core|pheno_slim HP:0033334 biolink:PhenotypicFeature Abnormal embryonic development An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm. hp.json http://purl.obolibrary.org/obo/HP_0033334 HP:0033333 biolink:PhenotypicFeature Jaw contracture Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement. hp.json http://purl.obolibrary.org/obo/HP_0033333 UBERON:0013522 biolink:AnatomicalEntity subdivision of tube hp.json http://purl.obolibrary.org/obo/UBERON_0013522 UBERON:8300000 biolink:AnatomicalEntity skin of scalp A zone of skin that is part of a scalp. FMA:24757 hp.json zone of skin of adult scalp|adult scalp zone of skin|scalp zone of skin|zone of skin of scalp|scalp skin http://purl.obolibrary.org/obo/UBERON_8300000 HP:0033336 biolink:PhenotypicFeature Zygotic cleavage failure Failure of a fertilized oocyte to undergo the first round of cell division. hp.json Failure of zygotic cell division http://purl.obolibrary.org/obo/HP_0033336 HP:0033335 biolink:PhenotypicFeature Abnormal preimplantation embryonic development An anomaly in the development of the embryo in a stage prior to implantation. hp.json http://purl.obolibrary.org/obo/HP_0033335 HP:0033330 biolink:PhenotypicFeature Impaired neck-righting reflex Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years. hp.json http://purl.obolibrary.org/obo/HP_0033330 HP:0033332 biolink:PhenotypicFeature Elevated circulating amyloid A An increased concentration of serum amyloid A in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033332 HP:0033331 biolink:PhenotypicFeature Acute phase response Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing. hp.json http://purl.obolibrary.org/obo/HP_0033331 HP:0033338 biolink:PhenotypicFeature Abnormal female meiosis Anomalous oocyte meiosis hp.json http://purl.obolibrary.org/obo/HP_0033338 UBERON:0013514 biolink:AnatomicalEntity space surrounding organism The space that surrounds an organism. hp.json external to organism|outside of body http://purl.obolibrary.org/obo/UBERON_0013514 UBERON:0013515 biolink:AnatomicalEntity subdivision of oviduct A section through the tube or network of tubes that connects the ovaries to the outside of the body. FMA:18302 hp.json zone of uterine tube|subdivision of fallopian tube|subdivision of uterine tube|subdivision of oviduct|uterine tube zone http://purl.obolibrary.org/obo/UBERON_0013515 non_informative HP:0033337 biolink:PhenotypicFeature Abnormal gametogenesis An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II. hp.json http://purl.obolibrary.org/obo/HP_0033337 HP:0033339 biolink:PhenotypicFeature Increased circulating inosine concentration An increased concentration of inosine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033339 UBERON:0001543 biolink:AnatomicalEntity popliteal lymph node The lymph nodes which drain the legs; contained in the popliteal fossa. UMLS:C0588057|NCIT:C53146|FMA:44227|MA:0000738 hp.json popliteal lymph node|popliteal lymph glands|popliteal glands http://purl.obolibrary.org/obo/UBERON_0001543 uberon_slim|pheno_slim HP:0008366 biolink:PhenotypicFeature Foot joint contracture Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. SNOMEDCT_US:239742004|UMLS:C0343149 hp.json Joint contractures involving the joints of the feet|Contractures of the foot joints|Contractures involving the joints of the feet http://purl.obolibrary.org/obo/HP_0008366 HP:0008369 biolink:PhenotypicFeature Abnormal tarsal ossification An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. UMLS:C4021544|UMLS:C4025075 hp.json Abnormal maturation of ankle bones|Abnormal ossification of tarsal bones|Hardening of ankle bones http://purl.obolibrary.org/obo/HP_0008369 HP:0008368 biolink:PhenotypicFeature Tarsal synostosis Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). UMLS:C0265654|SNOMEDCT_US:27173008|MSH:D000070604 hp.json Fused ankle bones|Tarsal fusion|Tarsal bone synostosis|Tarsal bone fusion|Tarsal fusions|Synostosis involving tarsal bones|Synostosis of tarsal bones http://purl.obolibrary.org/obo/HP_0008368 UBERON:0001544 biolink:AnatomicalEntity popliteal vein The popliteal vein course runs alongside the popliteal artery but carries the blood from the knee joint and muscles in the thigh and calf back to the heart. Its origin is defined by the junction of the posterior tibial vein and anterior tibial vein. It drains the peroneal vein before reaching the knee joint and turns into the femoral vein when leaving the adductor canal (also known as Hunter's canal). The popliteal artery extends from the femoral artery behind the popliteal fossa which is the space behind the knee. [WP,unvetted]. GAID:537|NCIT:C33339|UMLS:C0032652|galen:PoplitealVein|EMAPA:37181|FMA:44327|MA:0002197|OpenCyc:Mx4rv8Ch-JwpEbGdrcN5Y29ycA|MESH:D011152 hp.json vena poplitea http://purl.obolibrary.org/obo/UBERON_0001544 uberon_slim|human_reference_atlas PR:000001954 biolink:Protein tumor necrosis factor receptor superfamily member 11A A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. IUPHARobj:1881|PIRSF:PIRSF038806 hp.json receptor activator of NF-KB|RANK|osteoclast differentiation factor receptor|ODFR|CD265|TNFRSF11A http://purl.obolibrary.org/obo/PR_000001954 HP:0008363 biolink:PhenotypicFeature Aplasia/Hypoplasia of the tarsal bones Absence or underdevelopment of the tarsal bones. UMLS:C1848671 hp.json Absent/underdeveloped ankle bone|Aplastic/hypoplastic tarsals|Absent/small ankle bone http://purl.obolibrary.org/obo/HP_0008363 HP:0008362 biolink:PhenotypicFeature Aplasia/Hypoplasia of the hallux Absence or underdevelopment of the big toe. UMLS:C1836213 hp.json Absent/underdeveloped big toe|Aplastic/hypoplastic halluces|Absent/small big toe http://purl.obolibrary.org/obo/HP_0008362 HP:0008365 biolink:PhenotypicFeature Abnormal talus morphology An abnormality of the talus. UMLS:C4024688 hp.json Abnormal large bone of ankle http://purl.obolibrary.org/obo/HP_0008365 HP:0008364 biolink:PhenotypicFeature Abnormality of the calcaneus An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. UMLS:C4024689 hp.json Abnormal heel bone http://purl.obolibrary.org/obo/HP_0008364 UBERON:0025533 biolink:AnatomicalEntity proprioceptive system The sensory system for the sense of proprioception. NLXANAT:090814 hp.json proprioceptive system http://purl.obolibrary.org/obo/UBERON_0025533 UBERON:0001529 biolink:AnatomicalEntity brachiocephalic artery The short first aortic arch branch and divides into the right subclavian artery and the right common carotid artery. SCTID:244244002|galen:BrachioCephalicArtery|FMA:3932|EMAPA:17615|MESH:D016122|NCIT:C32814|MA:0001922|EFO:0002550|OpenCyc:Mx4rv9mMTpwpEbGdrcN5Y29ycA|EHDAA2:0000835|Wikipedia:Brachiocephalic_artery|UMLS:C0006094|GAID:476 hp.json truncus brachiocephalicus|truncus brachiocephalicus|innominate artery|truncus brachiocephalicus|innominate artery|innominate|brachiocephalic trunk|innominate http://purl.obolibrary.org/obo/UBERON_0001529 pheno_slim|human_reference_atlas|efo_slim|uberon_slim HP:0200073 biolink:PhenotypicFeature Respiratory insufficiency due to defective ciliary clearance UMLS:C3552099 hp.json http://purl.obolibrary.org/obo/HP_0200073 UBERON:0001528 biolink:AnatomicalEntity radio-ulnar joint A joint that connects the radius and the ulna. Examples: proximal and distal radio-ulnar joints. MA:0003145|OpenCyc:Mx4rvlO2nJwpEbGdrcN5Y29ycA|FMA:38863|EMAPA:19206 hp.json articulation of the radus and ulna|radioulnar joint|radioulnar articulation http://purl.obolibrary.org/obo/UBERON_0001528 pheno_slim|uberon_slim HP:0200072 biolink:PhenotypicFeature Episodic quadriplegia Intermittent episodes of paralysis of all four limbs. UMLS:C1863062 hp.json Quadriplegia, episodic http://purl.obolibrary.org/obo/HP_0200072 HP:0011990 biolink:PhenotypicFeature Abnormality of neutrophil physiology A functional abnormality of neutrophils. UMLS:C4023093 hp.json http://purl.obolibrary.org/obo/HP_0011990 HP:0011991 biolink:PhenotypicFeature Abnormal neutrophil count A deviation from the normal range of neutrophil cell counts in the circulation. UMLS:C4023092 hp.json Abnormal neutrophil cell number http://purl.obolibrary.org/obo/HP_0011991 HP:0200071 biolink:PhenotypicFeature Peripheral vitreoretinal degeneration A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina. UMLS:C3280349 hp.json http://purl.obolibrary.org/obo/HP_0200071 HP:0011992 biolink:PhenotypicFeature Abnormality of neutrophil morphology An abnormal form or size of neutrophils. UMLS:C4023091 hp.json http://purl.obolibrary.org/obo/HP_0011992 HP:0200070 biolink:PhenotypicFeature Peripheral retinal atrophy UMLS:C3553016 hp.json Wasting of the outer part of the retina http://purl.obolibrary.org/obo/HP_0200070 HP:0011993 biolink:PhenotypicFeature Impaired neutrophil bactericidal activity A reduction in the ability of neutrophils to kill bacteria. UMLS:C4023090 hp.json http://purl.obolibrary.org/obo/HP_0011993 HP:0011994 biolink:PhenotypicFeature Abnormal atrial septum morphology An abnormality of the interatrial septum. UMLS:C0344722|Fyler:2002|SNOMEDCT_US:253363004 hp.json Abnormality of the atrial septum|Abnormal interatrial septum morphology http://purl.obolibrary.org/obo/HP_0011994 CHEBI:26764 biolink:ChemicalSubstance steroid hormone Any steroid that acts as hormone. hp.json hormona esteroide|Steroidhormon|hormones steroides|Steroidhormone|hormone steroide|hormonas esteroideas|steroid hormones http://purl.obolibrary.org/obo/CHEBI_26764 3_STAR HP:0011995 biolink:PhenotypicFeature Atrial septal dilatation A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. UMLS:C0521533|SNOMEDCT_US:95440004 hp.json Atrial septal aneurysm http://purl.obolibrary.org/obo/HP_0011995 CHEBI:51721 biolink:ChemicalSubstance alpha,beta-unsaturated ketone A ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) or R(1)C#C-C(=O)R(2) (R(2) =/= H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the alpha,beta position. hp.json alpha,beta-unsaturated ketones http://purl.obolibrary.org/obo/CHEBI_51721 3_STAR HP:0011996 biolink:PhenotypicFeature Elevated coagulation factor V activity Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. UMLS:C4021106 hp.json Plasma factor V elevated|Elevated factor V activity http://purl.obolibrary.org/obo/HP_0011996 UBERON:0013510 biolink:AnatomicalEntity lumbar vertebra pre-cartilage condensation A lumbar vertebra endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0013510 HP:0033345 biolink:PhenotypicFeature Neuralgia Pain (An unpleasant sensory and emotional experience) along the course of a nerve. hp.json http://purl.obolibrary.org/obo/HP_0033345 HP:0033344 biolink:PhenotypicFeature Pleural cobblestoning A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura. hp.json http://purl.obolibrary.org/obo/HP_0033344 HP:0033347 biolink:PhenotypicFeature Cognitive epileptic aura A purely subjective manifestation of an epileptic seizure pertaining to altered cognition. hp.json http://purl.obolibrary.org/obo/HP_0033347 HP:0033346 biolink:PhenotypicFeature Psychic epileptic aura Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events. hp.json Psychic aura http://purl.obolibrary.org/obo/HP_0033346 HP:0033341 biolink:PhenotypicFeature Elevated circulating sitosterol concentration An increased concentration of beta-sitosterol in the blood circulation. hp.json Elevated circulating beta-sitosterol concentration http://purl.obolibrary.org/obo/HP_0033341 HP:0033340 biolink:PhenotypicFeature Increased circulating guanosine concentration Increased concentration of guanosine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033340 HP:0033343 biolink:PhenotypicFeature Mucoid diarrhea Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes. hp.json Mucous diarrhea|Mucous diarrhoea http://purl.obolibrary.org/obo/HP_0033343 HP:0033342 biolink:PhenotypicFeature Anti-aquaporin 4 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4. hp.json Anti-AQP4 antibody positivity http://purl.obolibrary.org/obo/HP_0033342 UBERON:0013507 biolink:AnatomicalEntity thoracic vertebra cartilage element A thoracic vertebra endochondral element that is composed primarily of cartilage tissue. EHDAA2:0002014 hp.json thoracic vertebral cartilage condensation group http://purl.obolibrary.org/obo/UBERON_0013507 UBERON:0013508 biolink:AnatomicalEntity thoracic vertebra pre-cartilage condensation A thoracic vertebra endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0013508 UBERON:0013509 biolink:AnatomicalEntity lumbar vertebra cartilage element A lumbar vertebra endochondral element that is composed primarily of cartilage tissue. EHDAA2:0001038 hp.json lumbar vertebral cartilage condensation group http://purl.obolibrary.org/obo/UBERON_0013509 UBERON:0013503 biolink:AnatomicalEntity caudal vertebra cartilage element A caudal vertebra endochondral element that is composed primarily of cartilage tissue. EHDAA2:0000260|EMAPA:18044 hp.json coccygeal vertebral cartilage condensation group|coccygeal vertebra cartilage element|tail vertebral cartilage condensation http://purl.obolibrary.org/obo/UBERON_0013503 HP:0008338 biolink:PhenotypicFeature Partial functional complement factor D deficiency A partial reduction in level of the complement component Factor D in circulation. UMLS:C4024699 hp.json Partial functional adipsin deficiency|Partial functional factor d deficiency http://purl.obolibrary.org/obo/HP_0008338 HP:0033349 biolink:PhenotypicFeature Seizure cluster A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. hp.json Cyclical seizures|Serial seizures|Recurrent seizures|Crescendo seizures|Seizure flurries|Acute repetitive seizures http://purl.obolibrary.org/obo/HP_0033349 HP:0033348 biolink:PhenotypicFeature Epileptic aura An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure. hp.json http://purl.obolibrary.org/obo/HP_0033348 UBERON:0013504 biolink:AnatomicalEntity caudal vertebra pre-cartilage condensation A caudal vertebra endochondral element that is composed primarily of a pre-cartilage condensation. EMAPA:18045 hp.json coccygeal vertebra pre-cartilage condensation|tail vertebral pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0013504 UBERON:0013505 biolink:AnatomicalEntity cervical vertebra cartilage element A cervical vertebra endochondral element that is composed primarily of cartilage tissue. EHDAA2:0000240 hp.json cervical vertebral cartilage condensation group http://purl.obolibrary.org/obo/UBERON_0013505 HP:0008339 biolink:PhenotypicFeature Diaminoaciduria An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine). UMLS:C4024698 hp.json http://purl.obolibrary.org/obo/HP_0008339 UBERON:0013506 biolink:AnatomicalEntity cervical vertebra pre-cartilage condensation A cervical vertebra endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0013506 UBERON:0001532 biolink:AnatomicalEntity internal carotid artery A terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes[MP]. EMAPA:16328|AAO:0011054|SCTID:362045001|OpenCyc:Mx4rvYx8KZwpEbGdrcN5Y29ycA|VHOG:0000267|NCIT:C32836|EHDAA:408|Wikipedia:Internal_carotid_artery|BTO:0004697|UMLS:C0007276|AAO:0010219|MA:0001930|ZFA:0005081|XAO:0000366|TAO:0005081|EHDAA2:0000873|EFO:0001952|FMA:3947|GAID:481|EHDAA:6389|MESH:D002343 hp.json arteria carotis interna|internal carotid|ICA|cranial carotid artery|arteria carotis interna http://purl.obolibrary.org/obo/UBERON_0001532 human_reference_atlas|efo_slim|uberon_slim|vertebrate_core|pheno_slim HP:0011997 biolink:PhenotypicFeature Postprandial hyperlactemia Abnormally increased level of blood lactate following a meal. UMLS:C4023089 hp.json http://purl.obolibrary.org/obo/HP_0011997 HP:0011998 biolink:PhenotypicFeature Postprandial hyperglycemia An increased concentration of glucose in the blood following a meal. MSH:D006943|UMLS:C1855520 hp.json http://purl.obolibrary.org/obo/HP_0011998 UBERON:0001531 biolink:AnatomicalEntity right common carotid artery plus branches The rightmost of the two common carotid arteries, originating from in the neck from the brachiocephalic trunk. FMA:3941|Wikipedia:Right_common_carotid_artery|UMLS:C0226086|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvg7rcJwpEbGdrcN5Y29ycA|EMAPA:35749|OpenCyc:Mx4rtW9-AqgEEdudWQACs5b6Bw|SCTID:362042003|MA:0001928|NCIT:C33473 hp.json right common carotid artery|right common carotid artery|trunk of right common carotid tree http://purl.obolibrary.org/obo/UBERON_0001531 uberon_slim|human_reference_atlas UBERON:0001534 biolink:AnatomicalEntity right subclavian artery The subclavian artery that supplies the right pectoral appendage. FMA:3953|NCIT:C33490|EMAPA:37384|OpenCyc:Mx4rtW7hwqgEEdudWQACs5b6Bw|MA:0002047|EHDAA2:0004514|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvp8u1JwpEbGdrcN5Y29ycA|UMLS:C0226261 hp.json arteria subclavia dextra http://purl.obolibrary.org/obo/UBERON_0001534 human_reference_atlas|uberon_slim|pheno_slim HP:0008336 biolink:PhenotypicFeature Complex organic aciduria UMLS:C3151953 hp.json http://purl.obolibrary.org/obo/HP_0008336 HP:0011999 biolink:PhenotypicFeature Paranoia A persecutory delusion of supposed hostility of others. UMLS:C1456784|SNOMEDCT_US:191667009|MSH:D010259 hp.json Paranoia http://purl.obolibrary.org/obo/HP_0011999 UBERON:0001533 biolink:AnatomicalEntity subclavian artery One of two laterally paired arteries that supplies the pectoral appendages, usually branching from the dorsal aorta. ZFA:0005086|FMA:3951|OpenCyc:Mx4rvp8u1JwpEbGdrcN5Y29ycA|TAO:0005086|GAID:511|EHDAA2:0001933|XAO:0000365|NCIT:C33643|MESH:D013348|EHDAA:4357|UMLS:C0038530|MA:0002045|AAO:0010232|EMAPA:17617 hp.json pectoral artery|arterial tree of upper limb|subclavian arterial tree|PA|arteria subclavia|arteria subclavia http://purl.obolibrary.org/obo/UBERON_0001533 human_reference_atlas|uberon_slim|vertebrate_core|unverified_taxonomic_grouping|pheno_slim HP:0008335 biolink:PhenotypicFeature obsolete Renal aminoaciduria UMLS:C0002534|MSH:D000608 hp.json http://purl.obolibrary.org/obo/HP_0008335 HP:0008330 biolink:PhenotypicFeature Reduced von Willebrand factor activity Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. UMLS:C4024701 hp.json Decreased von willebrand factor activity http://purl.obolibrary.org/obo/HP_0008330 UBERON:0001530 biolink:AnatomicalEntity common carotid artery plus branches A bilaterally paired branched artery that originates from the aortic arches and divides into and includes as parts the internal and external carotid arteries[cjm]. UMLS:C0162859|CALOHA:TS-0116|EHDAA:7331|EMAPA:17855|GAID:479|EHDAA2:0000217|VHOG:0000272|SCTID:362041005|FMA:3939|MESH:D017536|NCIT:C32352|MA:0001926|Wikipedia:Common_carotid_artery hp.json carotid artery|carotid artery system|a. carotis communis|common carotid artery|trunk of common carotid tree|a. carotis communis http://purl.obolibrary.org/obo/UBERON_0001530 uberon_slim|pheno_slim|human_reference_atlas HP:0008331 biolink:PhenotypicFeature Elevated creatine kinase after exercise UMLS:C4024700 hp.json Elevated CK after exercise|Elevated phospho-CK after exercise|Increased creatine phosphokinase after exercise|Elevated creatine phosphokinase after exercise|Increased phospho-CK after exercise|Increased CK after exercise|Elevated CPK after exercise|Increased phospho-creatine kinase after exercise|Increased creatine kinase after exercise|Elevated phospho-creatine kinase after exercise http://purl.obolibrary.org/obo/HP_0008331 HP:0200084 biolink:PhenotypicFeature Giant cell hepatitis Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. UMLS:C4020697|SNOMEDCT_US:69800000|UMLS:C2675624|UMLS:C2673820|UMLS:C0027613 hp.json Giant cell hepatitis shown on biopsy|Giant cell hepatitis on biopsy|Giant cell hepatitis on liver biopsy http://purl.obolibrary.org/obo/HP_0200084 UBERON:0001518 biolink:AnatomicalEntity skin of wrist A zone of skin that is part of a wrist [Automatically generated definition]. UMLS:C0222223|MA:0000638|FMA:38280|EMAPA:37351|NCIT:C52752 hp.json carpal region zone of skin|zone of skin of wrist|wrist zone of skin|zone of skin of carpal region|wrist skin http://purl.obolibrary.org/obo/UBERON_0001518 HP:0200083 biolink:PhenotypicFeature Severe limb shortening UMLS:C1835446 hp.json Severe limb shortening http://purl.obolibrary.org/obo/HP_0200083 UBERON:0001517 biolink:AnatomicalEntity skin of elbow A zone of skin that is part of a elbow [Automatically generated definition]. FMA:38250|EMAPA:18051|NCIT:C52755|MA:0000610|UMLS:C0222213 hp.json elbow skin|zone of skin of cubital region|zone of skin of elbow|cubital region zone of skin|elbow zone of skin http://purl.obolibrary.org/obo/UBERON_0001517 HP:0011980 biolink:PhenotypicFeature Cholesterol gallstones Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. UMLS:C0856727 hp.json http://purl.obolibrary.org/obo/HP_0011980 HP:0033350 biolink:PhenotypicFeature Elevated forced expiratory volume in one second An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject. hp.json Elevated FEV1 http://purl.obolibrary.org/obo/HP_0033350 UBERON:0001519 biolink:AnatomicalEntity skin of manus A zone of skin that is part of a manus [Automatically generated definition]. EMAPA:18486|FMA:38295|UMLS:C0222224|NCIT:C52753|MA:0000630 hp.json manus skin|skin of fore-paw|hand skin|skin of hand http://purl.obolibrary.org/obo/UBERON_0001519 pheno_slim HP:0011981 biolink:PhenotypicFeature Pigment gallstones Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. UMLS:C3278865 hp.json http://purl.obolibrary.org/obo/HP_0011981 HP:0011982 biolink:PhenotypicFeature Black pigment gallstones A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates. UMLS:C4023098 hp.json http://purl.obolibrary.org/obo/HP_0011982 UBERON:0001514 biolink:AnatomicalEntity descending aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. MA:0002571|EMAPA:18606|OpenCyc:Mx4rv4EE35wpEbGdrcN5Y29ycA|SCTID:261399002|FMA:3784|UMLS:C0011666|Wikipedia:Descending_aorta|NCIT:C32455 hp.json pars descendens aortae|aorta descendens|pars descendens aortae|aorta descendens|aorta descendens|pars descendens aortae|aorta descendens http://purl.obolibrary.org/obo/UBERON_0001514 pheno_slim|human_reference_atlas|uberon_slim UBERON:0001513 biolink:AnatomicalEntity skin of pes A zone of skin that is part of a pes [Automatically generated definition]. FMA:37834|EMAPA:18504|UMLS:C0222289|MA:0000654|NCIT:C52750 hp.json skin of hind-paw|skin of foot|foot skin http://purl.obolibrary.org/obo/UBERON_0001513 pheno_slim HP:0011983 biolink:PhenotypicFeature Brown pigment gallstones A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones. UMLS:C4023097 hp.json http://purl.obolibrary.org/obo/HP_0011983 HP:0011984 biolink:PhenotypicFeature Atretic gallbladder Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia. UMLS:C3277945 hp.json Gallbladder atresia http://purl.obolibrary.org/obo/HP_0011984 UBERON:0001516 biolink:AnatomicalEntity abdominal aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. BTO:0002976|EFO:0002524|GAID:470|MESH:D001012|UMLS:C0003484|FMA:3789|EMAPA:17856|Wikipedia:Abdominal_aorta|galen:AbdominalAorta|SCTID:244231007|NCIT:C32038|MA:0000474|OpenCyc:Mx4rvYhWCZwpEbGdrcN5Y29ycA hp.json pars abdominalis aortae|pars abdominalis aortae|abdominal part of aorta|descending abdominal aorta|aorta abdominalis|pars abdominalis aortae|abdominal part of aorta|pars abdominalis aortae|aorta abdominalis|aorta abdominalis http://purl.obolibrary.org/obo/UBERON_0001516 pheno_slim|efo_slim|human_reference_atlas|uberon_slim UBERON:0001515 biolink:AnatomicalEntity thoracic aorta The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. EFO:0002525|UMLS:C1522460|GAID:471|MESH:D001013|Wikipedia:Thoracic_aorta|BTO:0000157|OpenCyc:Mx4rveb9TpwpEbGdrcN5Y29ycA|EMAPA:18603|FMA:3786|MA:0002569|SCTID:302510009|galen:ThoracicAorta|NCIT:C33766 hp.json thoracic part of aorta|pars thoracica aortae|aorta thoracica|pars thoracica aortae|aorta thoracalis|aorta thoracalis http://purl.obolibrary.org/obo/UBERON_0001515 pheno_slim|efo_slim|uberon_slim HP:0011985 biolink:PhenotypicFeature Acholic stools Clay colored stools lacking bile pigment. SNOMEDCT_US:70396004|UMLS:C2675627 hp.json Clay coloured stools|Clay colored stools|Acholia|Discolored, acholic stools http://purl.obolibrary.org/obo/HP_0011985 HP:0200085 biolink:PhenotypicFeature Limb tremor MSH:D014202|UMLS:C0235081 hp.json Involuntary shaking of limb|Limb tremor|Tremor of limbs http://purl.obolibrary.org/obo/HP_0200085 HP:0033356 biolink:PhenotypicFeature Elevated circulating o-phosphoserine concentration An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine. hp.json http://purl.obolibrary.org/obo/HP_0033356 HP:0033355 biolink:PhenotypicFeature Increased urine deoxypyridinoline level An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover. hp.json Elevated urinary DPD http://purl.obolibrary.org/obo/HP_0033355 HP:0033358 biolink:PhenotypicFeature Abnormal urine osmolality A deviation from the normal range of concentration of particles in urine. hp.json http://purl.obolibrary.org/obo/HP_0033358 UBERON:0013501 biolink:AnatomicalEntity cloacal sphincter A sphincter muscle that is part of a cloaca. NCIT:C34129|UMLS:C1516658 hp.json sphincter cloacae http://purl.obolibrary.org/obo/UBERON_0013501 UBERON:0013502 biolink:AnatomicalEntity 5th arch mesenchyme A mesenchyme that is part of a pharyngeal arch 5. hp.json 5th branchial arch mesenchyme|5th pharyngeal arch mesenchyme|pharyngeal arch 5 mesenchyme http://purl.obolibrary.org/obo/UBERON_0013502 HP:0033357 biolink:PhenotypicFeature Limited head rotation Reduced range of motion turning the head side to side. hp.json http://purl.obolibrary.org/obo/HP_0033357 HP:0033352 biolink:PhenotypicFeature Pulmonary hypertensive crisis Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output. hp.json Pulmonary arterial hypertension crisis http://purl.obolibrary.org/obo/HP_0033352 HP:0033351 biolink:PhenotypicFeature Candida esophagitis Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. hp.json Esophageal candidiasis http://purl.obolibrary.org/obo/HP_0033351 HP:0033354 biolink:PhenotypicFeature Abnormal urine metabolite level Any deviation from the normal amount of a metabolite in urine. hp.json http://purl.obolibrary.org/obo/HP_0033354 HP:0033353 biolink:PhenotypicFeature Abnormal blood vessel morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). hp.json http://purl.obolibrary.org/obo/HP_0033353 CL:1001433 biolink:Cell epithelial cell of exocrine pancreas An epithelial cell of the exocrine pancreas. FMA:70986 hp.json exocrine pancreas cell http://purl.obolibrary.org/obo/CL_1001433 HP:0033359 biolink:PhenotypicFeature Hyperosthenuria An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033359 HP:0008348 biolink:PhenotypicFeature Decreased circulating IgG2 level A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. UMLS:C4021545 hp.json Reduced IgG2 levels|Immunoglobulin IgG2 deficiency|Decreased IgG2 level in blood http://purl.obolibrary.org/obo/HP_0008348 HP:0008345 biolink:PhenotypicFeature Hypoplasia of the iris dilator muscle Underdevelopment of the dilatator pupillae. UMLS:C4024696 hp.json Underdeveloped iris dilator muscle|Hypoplasia of the pupil dilator muscle|Underdeveloped pupil dilator muscle http://purl.obolibrary.org/obo/HP_0008345 HP:0011986 biolink:PhenotypicFeature Ectopic ossification Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. MSH:D009999|SNOMEDCT_US:128491006|MEDDRA:10065453|UMLS:C0029396 hp.json Heterotopic ossification|Ectopic bone formation http://purl.obolibrary.org/obo/HP_0011986 HP:0008344 biolink:PhenotypicFeature Elevated plasma branched chain amino acids An increased concentration of a branched chain amino acid in the blood. UMLS:C4024697 hp.json http://purl.obolibrary.org/obo/HP_0008344 HP:0011987 biolink:PhenotypicFeature Ectopic ossification in muscle tissue Formation of abnormal bony tissue within muscle tissue. UMLS:C4023096 hp.json Calcification of muscle tissue http://purl.obolibrary.org/obo/HP_0011987 HP:0008347 biolink:PhenotypicFeature Decreased activity of mitochondrial complex IV A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. UMLS:C4020800 hp.json Respiratory complex IV deficiency http://purl.obolibrary.org/obo/HP_0008347 HP:0011988 biolink:PhenotypicFeature Ectopic ossification in tendon tissue Formation of abnormal bony tissue within tendon tissue. UMLS:C4023095 hp.json http://purl.obolibrary.org/obo/HP_0011988 HP:0008346 biolink:PhenotypicFeature Increased red cell sickling tendency UMLS:C4024695 hp.json Increased sickling of erythrocytes|Increased sickling of red cells http://purl.obolibrary.org/obo/HP_0008346 HP:0011989 biolink:PhenotypicFeature Ectopic ossification in ligament tissue Formation of abnormal bony tissue within ligament tissue. UMLS:C4023094 hp.json http://purl.obolibrary.org/obo/HP_0011989 HP:0008341 biolink:PhenotypicFeature Distal renal tubular acidosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. SNOMEDCT_US:236461000|SNOMEDCT_US:86210009|MSH:D000141|UMLS:C1704380 hp.json Renal tubular acidosis, type I http://purl.obolibrary.org/obo/HP_0008341 PR:000001937 biolink:Protein tartrate-resistant acid phosphatase type 5 A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. PIRSF:PIRSF000898 hp.json type 5 acid phosphatase|ACP5|tartrate-resistant acid ATPase|T5ap|Trap|TrATPase|TR-AP http://purl.obolibrary.org/obo/PR_000001937 NCBITaxon:131567 biolink:OrganismalEntity cellular organisms GC_ID:1 hp.json biota http://purl.obolibrary.org/obo/NCBITaxon_131567 HP:0200050 biolink:PhenotypicFeature Bracket metacarpal epiphyses UMLS:C4021897 hp.json Bracket shaped end part of long bone of hand http://purl.obolibrary.org/obo/HP_0200050 HP:0200055 biolink:PhenotypicFeature Small hand Disproportionately small hand. SNOMEDCT_US:299032009|UMLS:C0575802 hp.json Disproportionately small hands|Small hands|Small hand http://purl.obolibrary.org/obo/HP_0200055 HP:0200054 biolink:PhenotypicFeature Foot monodactyly UMLS:C4021896 hp.json http://purl.obolibrary.org/obo/HP_0200054 HP:0200053 biolink:PhenotypicFeature Hemihypotrophy of lower limb Shortening of a leg affecting only one side. UMLS:C1844734 hp.json Asymmetric leg shortening|Asymmetric lower limb shortness http://purl.obolibrary.org/obo/HP_0200053 HP:0200059 biolink:PhenotypicFeature Metastatic angiosarcoma UMLS:C0854892 hp.json http://purl.obolibrary.org/obo/HP_0200059 HP:0200058 biolink:PhenotypicFeature Angiosarcoma SNOMEDCT_US:33176006|SNOMEDCT_US:403977003|UMLS:C0018923|SNOMEDCT_US:39000009|MSH:D006394 hp.json http://purl.obolibrary.org/obo/HP_0200058 PR:P17433 biolink:Protein transcription factor PU.1 (mouse) A transcription factor PU.1 that is encoded in the genome of mouse. UniProtKB:P17433 hp.json Sfpi-1|SFFV proviral integration 1 protein (mouse)|31 kDa-transforming protein (mouse)|mSPI1|Spi1|Sfpi1 http://purl.obolibrary.org/obo/PR_P17433 HP:0200057 biolink:PhenotypicFeature Marcus Gunn pupil An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. UMLS:C0549122|SNOMEDCT_US:232122003|SNOMEDCT_US:247015002 hp.json Relative afferent pupillary defect|Relative afferent pupil defect http://purl.obolibrary.org/obo/HP_0200057 HP:0200056 biolink:PhenotypicFeature Macular scar Scar tissue in the macula. SNOMEDCT_US:18410006|UMLS:C0423428 hp.json Macular scarring http://purl.obolibrary.org/obo/HP_0200056 CHEBI:61115 biolink:ChemicalSubstance EC 3.5.1.98 (histone deacetylase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the function of histone deacetylase (EC 3.5.1.98). Wikipedia:Histone_deacetylase_inhibitor hp.json histone amidohydrolase inhibitor|histone amidohydrolase inhibitors|HDI|EC 3.5.1.98 inhibitor|histone deacetylase inhibitor|HDAC inhibitors|histone deacetylase (EC 3.5.1.98) inhibitor|HDACi|HDACis|HDAC inhibitor|histone deacetylase (EC 3.5.1.98) inhibitors|EC 3.5.1.98 (histone deacetylase) inhibitors|EC 3.5.1.98 inhibitors|histone deacetylase inhibitors|HDIs http://purl.obolibrary.org/obo/CHEBI_61115 3_STAR UBERON:0001592 biolink:AnatomicalEntity bronchial vein The bronchial veins are small vessels that return blood from the larger bronchi and structures at the roots of the lungs. The right side drains into the azygos vein, while the left side drains into the left superior intercostal vein or the accessory hemiazygos vein. The bronchial veins are counterparts to the bronchial arteries. The veins, however, do not return all of the blood supplied by the arteries; much of the blood that is carried in the bronchial arteries is returned to the heart via the pulmonary veins. [WP,unvetted]. FMA:4749|MA:0002088|NCIT:C53031|UMLS:C0226650|EMAPA:36284 hp.json bronchial venous tree http://purl.obolibrary.org/obo/UBERON_0001592 human_reference_atlas|uberon_slim UBERON:0001591 biolink:AnatomicalEntity thymic vein A vein that drains blood from the thymus. NCIT:C53143|FMA:4747|EMAPA:36325|MA:0002246|UMLS:C0226698 hp.json thymic tributary of brachiocephalic vein|vena thymica|venae thymicae http://purl.obolibrary.org/obo/UBERON_0001591 human_reference_atlas UBERON:0001598 biolink:AnatomicalEntity temporalis muscle Pharyngeal arch 1 muscle that is innervated by the deep temporal branches of the trigeminal nerve and attaches to the wall of the braincase (including the cranial vault) and mandible. UMLS:C0039487|EHDAA:10565|EHDAA2:0002001|EMAPA:25138|MA:0002390|FMA:49006|GAID:148|VHOG:0000929|MESH:D013703|NCIT:C33743 hp.json temporalis|musculus temporalis|musculus temporalis|temporal muscle|jaw adductor muscle http://purl.obolibrary.org/obo/UBERON_0001598 pheno_slim|uberon_slim UBERON:0001597 biolink:AnatomicalEntity masseter muscle Pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors, is innervated by masseteric nerve branches of the trigeminal nerve (CN V), and attaches to mandible and zygomatic arch. MA:0002343|BTO:0001755|MESH:D008406|EFO:0001424|VHOG:0000823|EHDAA:10561|EHDAA2:0001067|NCIT:C13074|FMA:48996|UMLS:C0024876|EMAPA:25135|MFMO:0000075 hp.json musculus masseter|masseter http://purl.obolibrary.org/obo/UBERON_0001597 feed_aligned|pheno_slim|efo_slim|uberon_slim HP:0008399 biolink:PhenotypicFeature Circumungual hyperkeratosis A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails. UMLS:C4024681 hp.json Thick skin around nails http://purl.obolibrary.org/obo/HP_0008399 UBERON:0001599 biolink:AnatomicalEntity stapedius muscle The muscle that stabilizes the stapes bone. The stapedius emerges from a pinpoint foramen in the apex of the pyramidal eminence (a hollow, cone-shaped prominence in the posterior wall of the tympanic cavity), and inserts into the neck of the stapes. [WP,unvetted]. EMAPA:18586|VHOG:0000813|GAID:164|MA:0001220|EHDAA:9029|MESH:D013198|UMLS:C0038151|FMA:49027|NCIT:C33611 hp.json musculus stapedius|stapedius http://purl.obolibrary.org/obo/UBERON_0001599 pheno_slim|uberon_slim HP:0008396 biolink:PhenotypicFeature Chronic monilial nail infection Chronic infection of the nails by Candida species. UMLS:C4024683 hp.json http://purl.obolibrary.org/obo/HP_0008396 UBERON:0001593 biolink:AnatomicalEntity venous plexus A congregation of multiple veins. EMAPA:36327|FMA:4767|MA:0000069 hp.json rete venosum|plexus venosus|venous network http://purl.obolibrary.org/obo/UBERON_0001593 uberon_slim HP:0008398 biolink:PhenotypicFeature Hypoplastic fifth fingernail A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. UMLS:C4024682 hp.json Underdeveloped fifth fingernail|Underdeveloped fingernail of pinkie finger|Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinky finger http://purl.obolibrary.org/obo/HP_0008398 CHEBI:75767 biolink:ChemicalSubstance animal metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. hp.json animal metabolites http://purl.obolibrary.org/obo/CHEBI_75767 3_STAR CHEBI:75768 biolink:ChemicalSubstance mammalian metabolite Any animal metabolite produced during a metabolic reaction in mammals. hp.json mammalian metabolites http://purl.obolibrary.org/obo/CHEBI_75768 3_STAR HP:0200066 biolink:PhenotypicFeature Ribbonlike corneal degeneration UMLS:C4021894 hp.json http://purl.obolibrary.org/obo/HP_0200066 HP:0200065 biolink:PhenotypicFeature Chorioretinal degeneration UMLS:C0521683|SNOMEDCT_US:247177004 hp.json http://purl.obolibrary.org/obo/HP_0200065 HP:0200064 biolink:PhenotypicFeature Asymmetry of iris pigmentation Asymmetry between the two irides or asymmetry between different parts of one iris. SNOMEDCT_US:247033008|MSH:C538115|UMLS:C0423318 hp.json http://purl.obolibrary.org/obo/HP_0200064 CHEBI:75769 biolink:ChemicalSubstance B vitamin Any member of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B) that play important roles in cell metabolism. The group comprises of vitamin B1, B2, B3, B5, B6, B7, B9, and B12 (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such). PMID:22743781|Wikipedia:B_vitamin|PMID:23093174|PMID:23462586|MetaCyc:B-vitamins|PMID:23690582|PMID:23449527|PMID:23238962 hp.json vitamin B|B vitamins|B-group vitamins|B-group vitamin http://purl.obolibrary.org/obo/CHEBI_75769 3_STAR HP:0200063 biolink:PhenotypicFeature Colorectal polyposis Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. SNOMEDCT_US:399505005|UMLS:C0949059 hp.json Colorectal polyps http://purl.obolibrary.org/obo/HP_0200063 HP:0200068 biolink:PhenotypicFeature Nonprogressive visual loss UMLS:C4021893|UMLS:C3553696 hp.json Decreased visual acuity, nonprogressive http://purl.obolibrary.org/obo/HP_0200068 HP:0200067 biolink:PhenotypicFeature Recurrent spontaneous abortion Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. UMLS:C3279439 hp.json Spontaneous abortion, recurrent http://purl.obolibrary.org/obo/HP_0200067 CHEBI:61120 biolink:ChemicalSubstance nucleobase-containing molecular entity Any compound that has a nucleobase as a part. hp.json nucleobase-containing molecular entities|nucleobase-containing compound|nucleobase-containing compounds http://purl.obolibrary.org/obo/CHEBI_61120 3_STAR UBERON:0001581 biolink:AnatomicalEntity depressor labii inferioris A muscle of facial expression, innervated by the facial nerve, attached to the skin of the lower lip, orbicularis oris muscle, and mandible, and superficial and lateral to the mentalis muscle. See Diogo et al., 2009; Burrows et al., 2011). FMA:46816|MA:0002287|NCIT:C53152|UMLS:C0224119|MFMO:0000123|EMAPA:37516 hp.json http://purl.obolibrary.org/obo/UBERON_0001581 uberon_slim UBERON:0001580 biolink:AnatomicalEntity levator labii superioris The levator labii superioris (or quadratus labii superioris) is a broad sheet, the origin of which extends from the side of the nose to the zygomatic bone. Its medial fibers form the angular head, which arises by a pointed extremity from the upper part of the frontal process of the maxilla and passing obliquely downward and lateralward divides into two slips. One of these is inserted into the greater alar cartilage and skin of the nose; the other is prolonged into the lateral part of the upper lip, blending with the infraorbital head and with the Orbicularis oris. The intermediate portion or infraorbital head arises from the lower margin of the orbit immediately above the infraorbital foramen, some of its fibers being attached to the maxilla, others to the zygomatic bone. Its fibers converge, to be inserted into the muscular substance of the upper lip between the angular head and the Caninus. The lateral fibers, forming the zygomatic head, arise from the malar surface of the zygomatic bone immediately behind the zygomaticomaxillary suture and pass downward and medialward to the upper lip. [WP,unvetted]. EMAPA:37503|NCIT:C53164|UMLS:C1704248|MFMO:0000136|MA:0002333|FMA:46805 hp.json musculus levator labii superioris http://purl.obolibrary.org/obo/UBERON_0001580 uberon_slim UBERON:0001587 biolink:AnatomicalEntity subclavian vein The subclavian vein is a paired large vein, one on either side of the body. Their diameter is approximately that of the smallest finger. OpenCyc:Mx4rvvvtMZwpEbGdrcN5Y29ycA|galen:SubclavianVein|AAO:0010510|EHDAA:4455|MA:0002221|NCIT:C12794|FMA:4725|MESH:D013350|GAID:546|UMLS:C0038532|EHDAA2:0001934|EMAPA:17621 hp.json vena subclavia|subclavian venous tree http://purl.obolibrary.org/obo/UBERON_0001587 human_reference_atlas|uberon_slim UBERON:0001586 biolink:AnatomicalEntity internal jugular vein One of two jugular veins that collect the blood from the brain, the superficial parts of the face, and the neck. [WP,unvetted]. galen:InternalJugularVein|AAO:0010236|MA:0002157|XAO:0000382|OpenCyc:Mx4rvqdb95wpEbGdrcN5Y29ycA|SCTID:181372005|RETIRED_EHDAA2:0000878|UMLS:C0226550|FMA:4724|NCIT:C32849|EHDAA:5407|EHDAA2:0000877|Wikipedia:Internal_jugular_vein|EMAPA:17620 hp.json vena jugularis interna|vena jugularis interna|internal jugular|internal jugular venous tree http://purl.obolibrary.org/obo/UBERON_0001586 human_reference_atlas|uberon_slim CHEBI:75763 biolink:ChemicalSubstance eukaryotic metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. hp.json eukaryotic metabolites http://purl.obolibrary.org/obo/CHEBI_75763 3_STAR UBERON:0001582 biolink:AnatomicalEntity buccinator muscle The buccinator is a muscle that is attached to the mandible, skin, pterygomandibular raphe and maxilla, and is innervated by Cranial Nerve VII and participates in oropharyngeal behavior. FMA:46834|MA:0002272|NCIT:C53150|EMAPA:37453|MFMO:0000002|UMLS:C0224121 hp.json musculus buccinator|trumpeters muscle|buccinatorius|musculus buccinator|buccinator http://purl.obolibrary.org/obo/UBERON_0001582 uberon_slim UBERON:0001585 biolink:AnatomicalEntity anterior vena cava A vein that carries deoxygenated blood from the upper half of the body into the right atrium of the heart. VHOG:0001195|EHDAA:8726|Wikipedia:Superior_vena_cava|galen:SuperiorVenaCava|EHDAA2:0001962|MA:0000481|UMLS:C0042459|GAID:549|MESH:D014683|NCIT:C12816|EMAPA:18417|BTO:0002683|FMA:4720|SCTID:181368006 hp.json vena cava superior|vena maxima|superior vena cava|vena cava superior|precava|superior caval vein|vena maxima|superior caval vein|vena cava superior|cranial vena cava http://purl.obolibrary.org/obo/UBERON_0001585 pheno_slim|human_reference_atlas|uberon_slim UBERON:0001584 biolink:AnatomicalEntity left subclavian artery The subclavian artery that supplies the left pectoral appendage. NCIT:C32972|MA:0002046|OpenCyc:Mx4rtW7hw6gEEdudWQACs5b6Bw|UMLS:C0226262|EMAPA:37100|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rvp8u1JwpEbGdrcN5Y29ycA|FMA:4694 hp.json arteria subclavia (sinistra) http://purl.obolibrary.org/obo/UBERON_0001584 pheno_slim|human_reference_atlas|uberon_slim HP:0008383 biolink:PhenotypicFeature Slow-growing nails Nails whose growth is slower than normal. UMLS:C1835238 hp.json Slow-growing nails http://purl.obolibrary.org/obo/HP_0008383 UBERON:0001568 biolink:AnatomicalEntity muscle of larynx The muscles associated with the larynx. NCIT:C32934|MA:0001768|FMA:46562|EMAPA:35473|Wikipedia:Muscles_of_larynx|UMLS:C0023054|GAID:144|BTO:0001626|SCTID:181744001|MESH:D007821 hp.json musculi laryngeales|muscle organ of larynx|larynx muscle organ|larynx muscle|laryngeal muscle http://purl.obolibrary.org/obo/UBERON_0001568 pheno_slim HP:0200032 biolink:PhenotypicFeature Kayser-Fleischer ring Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. SNOMEDCT_US:77103006|UMLS:C0152457 hp.json Fleischer-Struempell ring|Fleischer's ring|Fleischer-Kayser ring http://purl.obolibrary.org/obo/HP_0200032 HP:0200030 biolink:PhenotypicFeature Punctate vasculitis skin lesions UMLS:C3277693 hp.json http://purl.obolibrary.org/obo/HP_0200030 HP:0033301 biolink:PhenotypicFeature Elevated circulating 1-methylhistidine concentration An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine. hp.json http://purl.obolibrary.org/obo/HP_0033301 HP:0200037 biolink:PhenotypicFeature Skin vesicle A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. UMLS:C3814530 hp.json http://purl.obolibrary.org/obo/HP_0200037 HP:0033300 biolink:PhenotypicFeature Increased circulating complement factor H related protein 1 concentration Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033300 HP:0200036 biolink:PhenotypicFeature Skin nodule Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. SNOMEDCT_US:95319004|UMLS:C0037287 hp.json Growth of abnormal tissue on or under the skin http://purl.obolibrary.org/obo/HP_0200036 HP:0200035 biolink:PhenotypicFeature Skin plaque A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. UMLS:C0241148|SNOMEDCT_US:276322001|SNOMEDCT_US:128177006 hp.json http://purl.obolibrary.org/obo/HP_0200035 HP:0033303 biolink:PhenotypicFeature Elevated urinary monocarboxylic acid level Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group. hp.json http://purl.obolibrary.org/obo/HP_0033303 HP:0200034 biolink:PhenotypicFeature Papule A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. SNOMEDCT_US:443871003|UMLS:C0332563|MEDDRA:10033733|SNOMEDCT_US:25694009 hp.json Skin papules|Papules http://purl.obolibrary.org/obo/HP_0200034 hposlim_core HP:0033302 biolink:PhenotypicFeature Elevated circulating 4-hydroxyphenylacetic acid concentration An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033302 GO:0048601 biolink:BiologicalProcess oocyte morphogenesis The process in which the structures of an oocyte are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of an oocyte. hp.json oocyte morphogenesis during differentiation http://purl.obolibrary.org/obo/GO_0048601 HP:0200039 biolink:PhenotypicFeature Pustule A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. SNOMEDCT_US:47002008|SNOMEDCT_US:271760008|UMLS:C0241157|UMLS:C0542346|SNOMEDCT_US:103605005|MEDDRA:10037578|SNOMEDCT_US:285305004 hp.json Pustular lesion|Skin pustules|Pimple|Pustules|Skin pustule|Pustula http://purl.obolibrary.org/obo/HP_0200039 hposlim_core HP:0033309 biolink:PhenotypicFeature Ileoileal intussusception A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum. hp.json http://purl.obolibrary.org/obo/HP_0033309 HP:0033308 biolink:PhenotypicFeature Patellar overgrowth Excessive growth of the kneecap (patella). hp.json http://purl.obolibrary.org/obo/HP_0033308 CHEBI:38700 biolink:ChemicalSubstance organic sodium salt hp.json http://purl.obolibrary.org/obo/CHEBI_38700 GO:0048609 biolink:BiologicalProcess multicellular organismal reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. hp.json reproductive process in a multicellular organism|organismal reproductive process http://purl.obolibrary.org/obo/GO_0048609 GO:0048608 biolink:BiologicalProcess reproductive structure development The reproductive developmental process whose specific outcome is the progression of somatic structures that will be used in the process of creating new individuals from one or more parents, from their formation to the mature structures. hp.json http://purl.obolibrary.org/obo/GO_0048608 HP:0033305 biolink:PhenotypicFeature Abnormal circulating fetuin A concentration Any deviation from the normal concentration of fetuin A in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033305 HP:0033304 biolink:PhenotypicFeature obsolete Elevated urine 4-hydroxyphenylacetic acid level hp.json http://purl.obolibrary.org/obo/HP_0033304 HP:0033307 biolink:PhenotypicFeature Increased circulating fetuin A concentration An elevation above normal of fetuin A in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033307 HP:0033306 biolink:PhenotypicFeature Decreased circulating fetuin A concentration A reduction below normal of fetuin A in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033306 UBERON:0001576 biolink:AnatomicalEntity intrinsic muscle of tongue The intrinsic tongue muscles are an integral part of the tongue and completely contained within the tongue that are innervated by Cranial Nerve XII. EHDAA:9152|VHOG:0000748|FMA:46701|SCTID:244788005|EHDAA2:0002064|EMAPA:18280|MA:0002327 hp.json intrinsic tongue muscle|intrinsic lingual muscle http://purl.obolibrary.org/obo/UBERON_0001576 UBERON:0001575 biolink:AnatomicalEntity extrinsic muscle of tongue A muscle organ that attaches the tongue to some other structure. SCTID:244782006|VHOG:0000825|EMAPA:18275|MA:0002296|EHDAA:9148|FMA:46699|EHDAA2:0002063 hp.json extrinsic lingual muscle|extrinsic tongue muscle http://purl.obolibrary.org/obo/UBERON_0001575 CHEBI:75771 biolink:ChemicalSubstance mouse metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). hp.json Mus musculus metabolite|mouse metabolites|Mus musculus metabolites http://purl.obolibrary.org/obo/CHEBI_75771 3_STAR UBERON:0001578 biolink:AnatomicalEntity orbicularis oculi muscle A circumorbital muscle in the face that closes the eyelid[HP]. NCIT:C52886|UMLS:C0224122|EMAPA:35619|MA:0001254|FMA:46779 hp.json tensor tarsi|musculus orbicularis oculi|orbicularis oculi http://purl.obolibrary.org/obo/UBERON_0001578 pheno_slim|uberon_slim UBERON:0001577 biolink:AnatomicalEntity facial muscle A muscle innervated by a facial nerve. XAO:0001013|GAID:143|MFMO:0000005|UMLS:C0015460|MA:0003160|NCIT:C13073|FMA:46751|MESH:D005152 hp.json mimetic muscles|cranial-facial muscle|facial nerve innervated muscle|facial muscle proper|muscle of facil expression|facial nerve muscle|facial muscle|cranio-facial muscle|muscle organ of face|musculi faciei|muscle of face|face muscle organ|facial muscle|muscles of facial expression|face muscle|craniofacial muscle http://purl.obolibrary.org/obo/UBERON_0001577 pheno_slim|uberon_slim UBERON:0001572 biolink:AnatomicalEntity hyoglossus muscle A muscle that attaches to the hyopid bone and to the tongue and is innervated by cranial nerve XII. FMA:46691|SCTID:244785008|EMAPA:18277|AAO:0010663|NCIT:C53161|Wikipedia:Hyoglossus_muscle|UMLS:C0224196|MA:0002317|MFMO:0000064 hp.json hyoglossus|hyoglossus|m. hyoglossus http://purl.obolibrary.org/obo/UBERON_0001572 uberon_slim HP:0008373 biolink:PhenotypicFeature Puberty and gonadal disorders UMLS:C4024685 hp.json Puberty and gonadal disorders http://purl.obolibrary.org/obo/HP_0008373 UBERON:0001571 biolink:AnatomicalEntity genioglossus muscle Either of a pair of lingual muscles with origin in the mandible, with insertion to the lingual fascia below the mucous membrane and epiglottis, with nerve supply from the hypoglossal nerve, and whose action depresses and protrudes the tongue. EHDAA:9150|Wikipedia:Genioglossus_muscle|UMLS:C0224194|VHOG:0000847|SCTID:244784007|FMA:46690|EMAPA:18276|NCIT:C52928|AAO:0010660|EHDAA2:0000704|MA:0002307 hp.json musculus genioglossus|genioglossus|m. genioglossus http://purl.obolibrary.org/obo/UBERON_0001571 uberon_slim UBERON:0001574 biolink:AnatomicalEntity palatoglossus muscle The palatoglossus, glossopalatinus, or palatoglossal muscle is a small fleshy fasciculus, narrower in the middle than at either end, forming, with the mucous membrane covering its surface, the glossopalatine arch. It arises from the anterior surface of the soft palate, where it is continuous with the muscle of the opposite side, and passing downward, forward, and lateralward in front of the palatine tonsil, is inserted into the side of the tongue, some of its fibers spreading over the dorsum, and others passing deeply into the substance of the organ to intermingle with the Transversus linguæ. [WP,unvetted]. EMAPA:18278|UMLS:C1704249|MA:0002351|NCIT:C53170|FMA:46697 hp.json palatoglossal muscle|palatoglossus|musculus palatoglossus|palatoglossal http://purl.obolibrary.org/obo/UBERON_0001574 uberon_slim HP:0008376 biolink:PhenotypicFeature Nasal, dysarthic speech UMLS:C1834664 hp.json Breathy speech http://purl.obolibrary.org/obo/HP_0008376 CHEBI:75772 biolink:ChemicalSubstance Saccharomyces cerevisiae metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). hp.json S. cerevisiae secondary metabolites|baker's yeast metabolites|S. cerevisiae metabolites|S. cerevisiae metabolite|Saccharomyces cerevisiae secondary metabolites|baker's yeast metabolite|S. cerevisiae secondary metabolite|Saccharomyces cerevisiae metabolites|baker's yeast secondary metabolites|baker's yeast secondary metabolite http://purl.obolibrary.org/obo/CHEBI_75772 3_STAR UBERON:0001573 biolink:AnatomicalEntity styloglossus The Styloglossus, the shortest and smallest of the three styloid muscles, arises from the anterior and lateral surfaces of the styloid process, near its apex, and from the stylomandibular ligament. Passing downward and forward between the internal and external carotid arteries, it divides upon the side of the tongue near its dorsal surface, blending with the fibers of the Longitudinalis inferior in front of the Hyoglossus; the other, oblique, overlaps the Hyoglossus and decussates with its fibers. [WP,unvetted]. EMAPA:18279|FMA:46692|MA:0002387|NCIT:C53071|UMLS:C0224195 hp.json musculus styloglossus|syloglossus muscle http://purl.obolibrary.org/obo/UBERON_0001573 uberon_slim PR:000001969 biolink:Protein urokinase plasminogen activator surface receptor A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. PIRSF:PIRSF002022 hp.json PLAUR|UPAR|CD87|uPAR|monocyte activation antigen Mo3|U-PAR|MO3 http://purl.obolibrary.org/obo/PR_000001969 HP:0200040 biolink:PhenotypicFeature Epidermoid cyst Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. SNOMEDCT_US:419893006|SNOMEDCT_US:419670003|UMLS:C0014511|SNOMEDCT_US:417992006|SNOMEDCT_US:399999000|SNOMEDCT_US:418630001|MSH:D004814|SNOMEDCT_US:418323001|SNOMEDCT_US:419603000 hp.json Infundibular cyst|Sebaceous cyst|Keratin cyst|Epidermoid cysts|Epidermal inclusion cyst|Epidermal cyst|Skin cyst http://purl.obolibrary.org/obo/HP_0200040 HP:0008392 biolink:PhenotypicFeature Subungual hyperkeratosis A thickening of the stratum corneum in the region beneath the nails. SNOMEDCT_US:10165000|UMLS:C0038605 hp.json Thickened, discolored skin under nail|Thickened, discoloured skin under nail http://purl.obolibrary.org/obo/HP_0008392 HP:0008391 biolink:PhenotypicFeature Dystrophic fingernails The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. UMLS:C3551426 hp.json Poor fingernail formation http://purl.obolibrary.org/obo/HP_0008391 CHEBI:75787 biolink:ChemicalSubstance prokaryotic metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. hp.json prokaryotic metabolites http://purl.obolibrary.org/obo/CHEBI_75787 3_STAR HP:0008394 biolink:PhenotypicFeature Congenital onychodystrophy UMLS:C4280413|UMLS:C1393669 hp.json Congenital malformed nails http://purl.obolibrary.org/obo/HP_0008394 HP:0008393 biolink:PhenotypicFeature Congenital curved nail of fourth toe UMLS:C4024684 hp.json http://purl.obolibrary.org/obo/HP_0008393 UBERON:0001558 biolink:AnatomicalEntity lower respiratory tract The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified]. SCTID:281488008|FMA:45662|OpenCyc:Mx4rQRqjUgAKEdyHxgDggVfs8g|MA:0000435|Wikipedia:Lower_respiratory_tract|VHOG:0000382|EHDAA2:0001036|EMAPA:16738 hp.json lower respiratory system http://purl.obolibrary.org/obo/UBERON_0001558 uberon_slim|pheno_slim HP:0200044 biolink:PhenotypicFeature Porokeratosis A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. MSH:D017499|UMLS:C0949506|SNOMEDCT_US:80432009 hp.json http://purl.obolibrary.org/obo/HP_0200044 UBERON:0001557 biolink:AnatomicalEntity upper respiratory tract The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea. EMAPA:17669|FMA:45661|OpenCyc:Mx4rtT2HwgJMEdyAAADggVbxzQ|MA:0000442|VHOG:0000406|EHDAA2:0002136 hp.json http://purl.obolibrary.org/obo/UBERON_0001557 uberon_slim|pheno_slim HP:0200043 biolink:PhenotypicFeature Verrucae Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. MSH:D014860|UMLS:C3665596|SNOMEDCT_US:30285000|SNOMEDCT_US:57019003 hp.json Warts http://purl.obolibrary.org/obo/HP_0200043 HP:0008390 biolink:PhenotypicFeature Recurrent loss of toenails and fingernails Repeated loss, or shedding, of the nails of the fingers and toes. UMLS:C4021542 hp.json Recurrent shedding of toenails and fingernails|Recurrent loss of toenails and fingernails http://purl.obolibrary.org/obo/HP_0008390 HP:0200042 biolink:PhenotypicFeature Skin ulcer A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. SNOMEDCT_US:46742003|UMLS:C0037299|MEDDRA:10040943|MSH:D012883 hp.json Open skin sore http://purl.obolibrary.org/obo/HP_0200042 hposlim_core HP:0200041 biolink:PhenotypicFeature Skin erosion A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. UMLS:C3887524|MEDDRA:10040840|SNOMEDCT_US:93448009 hp.json http://purl.obolibrary.org/obo/HP_0200041 HP:0200048 biolink:PhenotypicFeature Cyanotic episode UMLS:C0578475|SNOMEDCT_US:301795004 hp.json http://purl.obolibrary.org/obo/HP_0200048 HP:0033312 biolink:PhenotypicFeature Abnormal Bowman space morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. hp.json http://purl.obolibrary.org/obo/HP_0033312 HP:0033311 biolink:PhenotypicFeature Abdominal aortic dissection A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers. hp.json http://purl.obolibrary.org/obo/HP_0033311 HP:0200047 biolink:PhenotypicFeature Chondritis of pinna Inflammation of the cartilage of the external ear. UMLS:C0741305 hp.json Inflammation of cartilage of pinna http://purl.obolibrary.org/obo/HP_0200047 HP:0200046 biolink:PhenotypicFeature Cat cry The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. UMLS:C0234861|SNOMEDCT_US:42712003 hp.json cat-like cry|cri de chat-associated cry|Cat cry http://purl.obolibrary.org/obo/HP_0200046 HP:0033314 biolink:PhenotypicFeature Visceral epithelial cell hyperplasia Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. hp.json Hyperplasia of visceral epithelial cells|Podocyte hyperplasia http://purl.obolibrary.org/obo/HP_0033314 HP:0033313 biolink:PhenotypicFeature Urinary space collagenization Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. hp.json Collagenization of the urinary space http://purl.obolibrary.org/obo/HP_0033313 CHEBI:38717 biolink:ChemicalSubstance carboxylic acid trianion A trianion containing at least one carboxy group. hp.json carboxylic acid trianions|carboxylic acid trianion http://purl.obolibrary.org/obo/CHEBI_38717 3_STAR CHEBI:12109 biolink:ChemicalSubstance 5-aminolevulinate Beilstein:3937762 hp.json 5-amino-4-oxopentanoate http://purl.obolibrary.org/obo/CHEBI_12109 3_STAR HP:0033310 biolink:PhenotypicFeature Osmotic diarrhea Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. hp.json http://purl.obolibrary.org/obo/HP_0033310 HP:0200049 biolink:PhenotypicFeature Upper limb hypertonia Increased muscle tone observed in the arms of the affected person. UMLS:C4021898 hp.json http://purl.obolibrary.org/obo/HP_0200049 HP:0033319 biolink:PhenotypicFeature Fibrous crescent A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. hp.json http://purl.obolibrary.org/obo/HP_0033319 CHEBI:38716 biolink:ChemicalSubstance carboxylic acid dianion Any dianion containing at least one carboxy group. hp.json carboxylic acid dianions|carboxylic acid dianion http://purl.obolibrary.org/obo/CHEBI_38716 3_STAR HP:0033316 biolink:PhenotypicFeature Glomerular crescent formation Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. hp.json http://purl.obolibrary.org/obo/HP_0033316 PR:000001971 biolink:Protein vascular endothelial growth factor receptor A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. PIRSF:PIRSF038502 hp.json http://purl.obolibrary.org/obo/PR_000001971 HP:0033315 biolink:PhenotypicFeature Visceral epithelial hyaline droplets Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. hp.json http://purl.obolibrary.org/obo/HP_0033315 HP:0033318 biolink:PhenotypicFeature Fibrocellular crescent A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. hp.json http://purl.obolibrary.org/obo/HP_0033318 HP:0033317 biolink:PhenotypicFeature Cellular crescent A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. hp.json http://purl.obolibrary.org/obo/HP_0033317 UBERON:0001565 biolink:AnatomicalEntity geniohyoid muscle The geniohyoid is a muscle that attaches to the mandible and the hyoid apparatus and is innervated by the first cervical nerve (C1). NCIT:C52930|UMLS:C0224160|EMAPA:36626|FMA:46325|MA:0002308 hp.json genio-hyoideus|m. geniohyoideus|genio-hyoideus muscle|musculus geniohyoideus|geniohyoid|geniohyoideus muscle|geniohyoideus http://purl.obolibrary.org/obo/UBERON_0001565 uberon_slim UBERON:0001564 biolink:AnatomicalEntity mylohyoid muscle The mylohyoid is a pharyngeal arch I muscle that participates in oral/pharyngeal behaviors and is innervated by the nerve to mylohyoid and attaches to the midline raphe linking right and left mylohyoid and the mandible. FMA:46320|NCIT:C52962|MFMO:0000084|MA:0002344|UMLS:C0224159|EMAPA:25136 hp.json mylohyoid|mylohyoideus|mylohyoideus muscle|musculus mylohyoideus|musculus mylohyoideus http://purl.obolibrary.org/obo/UBERON_0001564 uberon_slim HP:0008388 biolink:PhenotypicFeature Abnormal toenail morphology An anomaly of the toenail. SNOMEDCT_US:700189007|UMLS:C3839753 hp.json Abnormality of the toenail|Abnormality of the toenails http://purl.obolibrary.org/obo/HP_0008388 UBERON:0001567 biolink:AnatomicalEntity cheek A fleshy subdivision of one side of the face bounded by an eye, ear and the nose. FMA:46476|OpenCyc:Mx4rvVi5WZwpEbGdrcN5Y29ycA|NCIT:C13070|MA:0002475|MESH:D002610|TAO:0002113|UMLS:C0007966|BTO:0001754|galen:Cheek|GAID:65|EMAPA:37451 hp.json buccae|jowl http://purl.obolibrary.org/obo/UBERON_0001567 uberon_slim|pheno_slim UBERON:0001566 biolink:AnatomicalEntity cricothyroid muscle Intrinsic muscle of the larynx, innervated by the external division of the laryngeal nerve, a branch of the vagus nerve. It attaches to the anterolateral surface of the cricoid cartilage and the external surface of the thyroid cartilage. NCIT:C32404|FMA:46417|MA:0002284|MFMO:0000324|EMAPA:19270|UMLS:C0224178 hp.json M. cricothyroideus|cricothyroideus|musculus cricothyroideus|cricothyroid http://purl.obolibrary.org/obo/UBERON_0001566 uberon_slim UBERON:0001560 biolink:AnatomicalEntity neck of organ FMA:45733 hp.json organ neck http://purl.obolibrary.org/obo/UBERON_0001560 non_informative CHEBI:26739 biolink:ChemicalSubstance sphingolipid Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone. hp.json sphingolipids http://purl.obolibrary.org/obo/CHEBI_26739 3_STAR UBERON:0001562 biolink:AnatomicalEntity digastric muscle group A group of muscles (or in some classifications, muscle bellies) that are located under the jaw and attach to the base of the cranium and typically attaches to the hyoid apparatus via a common tendon. EMAPA:25134|UMLS:C0224155|MA:0002288|NCIT:C32462|FMA:46291 hp.json musculus digastricus|digastricus|musculus digastricus|digastric muscle|digastric|digastric http://purl.obolibrary.org/obo/UBERON_0001562 uberon_slim HP:0008386 biolink:PhenotypicFeature Aplasia/Hypoplasia of the nails Aplasia or developmental hypoplasia of the nail. UMLS:C1859077 hp.json Absent/underdeveloped nails|Nail aplasia/hypoplasia|Absent/hypoplastic nails|Absent/small nails http://purl.obolibrary.org/obo/HP_0008386 HP:0011930 biolink:PhenotypicFeature Hyperextensible skin of chest UMLS:C4021836 hp.json Stretchable chest skin|Hyperelastic chest skin http://purl.obolibrary.org/obo/HP_0011930 HP:0011939 biolink:PhenotypicFeature 3-4 finger cutaneous syndactyly A soft tissue continuity in the A/P axis between fingers 3 and 4. UMLS:C4023115 hp.json http://purl.obolibrary.org/obo/HP_0011939 GO:0010001 biolink:BiologicalProcess glial cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a glial cell. hp.json neuroglia differentiation|glia cell differentiation http://purl.obolibrary.org/obo/GO_0010001 GO:0010002 biolink:BiologicalProcess cardioblast differentiation The process in which a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. hp.json cardioblast cell differentiation|cardiomyocyte generation|cardiac precursor cell differentiation http://purl.obolibrary.org/obo/GO_0010002 HP:0011931 biolink:PhenotypicFeature Abnormal cerebellar peduncle morphology An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. UMLS:C4023121 hp.json Abnormality of the cerebellar peduncle http://purl.obolibrary.org/obo/HP_0011931 HP:0011932 biolink:PhenotypicFeature Abnormal superior cerebellar peduncle morphology An anomaly of the superior cerebellar peduncle. UMLS:C4023120 hp.json Abnormality of the superior cerebellar peduncle http://purl.obolibrary.org/obo/HP_0011932 HP:0011933 biolink:PhenotypicFeature Elongated superior cerebellar peduncle Increased length of the superior cerebellar peduncle. UMLS:C4021109|UMLS:C3810214 hp.json Long cerebellar peduncle|Elongated superior cerebellar peduncles|Long cerebellar peduncles http://purl.obolibrary.org/obo/HP_0011933 HP:0011934 biolink:PhenotypicFeature Dilatation of mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . UMLS:C4023119 hp.json Mesenteric artery aneurysm http://purl.obolibrary.org/obo/HP_0011934 HP:0011935 biolink:PhenotypicFeature Decreased urinary urate Decreased concentration of urate in the urine. UMLS:C4023118 hp.json http://purl.obolibrary.org/obo/HP_0011935 HP:0011936 biolink:PhenotypicFeature Decreased plasma total carnitine A decreased concentration of total carnitine in the blood. UMLS:C4023117 hp.json Decreased plasma total carnitine http://purl.obolibrary.org/obo/HP_0011936 HP:0011937 biolink:PhenotypicFeature Hypoplastic fifth toenail Underdeveloped nails of the fifth toes. UMLS:C4023116 hp.json Small fifth toenail|Underdeveloped fifth toenail http://purl.obolibrary.org/obo/HP_0011937 HP:0011928 biolink:PhenotypicFeature Short proximal phalanx of toe Developmental hypoplasia (shortening) of proximal phalanx of toe. UMLS:C4023123 hp.json Short innermost toe bone http://purl.obolibrary.org/obo/HP_0011928 HP:0011929 biolink:PhenotypicFeature Hypersegmentation of proximal phalanx of third finger Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. UMLS:C4023122 hp.json http://purl.obolibrary.org/obo/HP_0011929 HP:0011920 biolink:PhenotypicFeature Transudative pleural effusion A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. SNOMEDCT_US:79231000|UMLS:C0020312|MSH:D006876 hp.json http://purl.obolibrary.org/obo/HP_0011920 HP:0011921 biolink:PhenotypicFeature Exudative pleural effusion A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. SNOMEDCT_US:13841000119107|UMLS:C3887491 hp.json http://purl.obolibrary.org/obo/HP_0011921 HP:0011922 biolink:PhenotypicFeature Abnormal activity of mitochondrial respiratory chain An increased or decreased activity of the mitochondrial respiratory chain. UMLS:C4023126 hp.json http://purl.obolibrary.org/obo/HP_0011922 HP:0011923 biolink:PhenotypicFeature Decreased activity of mitochondrial complex I A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. UMLS:C2677650|UMLS:C4020739 hp.json Respiratory complex I deficiency http://purl.obolibrary.org/obo/HP_0011923 HP:0011924 biolink:PhenotypicFeature Decreased activity of mitochondrial complex III A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. UMLS:C4020738|UMLS:C3149083 hp.json Respiratory complex III deficiency http://purl.obolibrary.org/obo/HP_0011924 HP:0011925 biolink:PhenotypicFeature Decreased activity of mitochondrial ATP synthase complex A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. UMLS:C4020737|UMLS:C4023125 hp.json Respiratory complex deficiency, ATPase deficiency http://purl.obolibrary.org/obo/HP_0011925 HP:0011926 biolink:PhenotypicFeature Proximal placement of hallux Proximal mislocalization of the big toe from its normal position. UMLS:C4021110 hp.json Proximal placement of big toe|Proximally placed halluces http://purl.obolibrary.org/obo/HP_0011926 HP:0011927 biolink:PhenotypicFeature Short digit One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. UMLS:C1860176|UMLS:C4023124 hp.json Very short digits|Short digit http://purl.obolibrary.org/obo/HP_0011927 GO:0097576 biolink:BiologicalProcess vacuole fusion Merging of two or more vacuoles, or of vacuoles and vesicles within a cell to form a single larger vacuole. hp.json http://purl.obolibrary.org/obo/GO_0097576 PR:Q62226 biolink:Protein sonic hedgehog protein (mouse) A sonic hedgehog protein that is encoded in the genome of mouse. UniProtKB:Q62226 hp.json SHH (mouse)|mSHH|Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains (mouse)|Shh|HHG-1 (mouse)|ShhNC (mouse)|Hhg1 http://purl.obolibrary.org/obo/PR_Q62226 CHEBI:48154 biolink:ChemicalSubstance sulfur oxide hp.json oxides of sulfur|Schwefeloxide|sulfur oxides http://purl.obolibrary.org/obo/CHEBI_48154 3_STAR HP:0011917 biolink:PhenotypicFeature Short 5th toe Underdevelopment (hypoplasia) of the fifth toe. UMLS:C4021111 hp.json Short little toe|Short fifth toe|Short pinkie toe|Short pinky toe http://purl.obolibrary.org/obo/HP_0011917 HP:0011918 biolink:PhenotypicFeature Clinodactyly of the 4th toe Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). UMLS:C4020740 hp.json Curvature of 4th toe|4th toe clinodactyly http://purl.obolibrary.org/obo/HP_0011918 HP:0011919 biolink:PhenotypicFeature Pleural empyema Accumulation of pus in the pleural cavity. SNOMEDCT_US:405950009|UMLS:C0014013|SNOMEDCT_US:58554001|SNOMEDCT_US:405951008|MSH:D016724 hp.json Pyothorax http://purl.obolibrary.org/obo/HP_0011919 HP:0011910 biolink:PhenotypicFeature Shortening of all phalanges of fingers Abnormal reduction in length affecting all phalanges. UMLS:C4023133 hp.json Shortening of all finger bones http://purl.obolibrary.org/obo/HP_0011910 HP:0011911 biolink:PhenotypicFeature Abnormal metacarpophalangeal joint morphology An anomaly of a metacarpophalangeal joint. UMLS:C4023132 hp.json Abnormality of the knuckle|Abnormality of metacarpophalangeal joint http://purl.obolibrary.org/obo/HP_0011911 HP:0011912 biolink:PhenotypicFeature Abnormality of the glenoid fossa An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. UMLS:C4023131 hp.json http://purl.obolibrary.org/obo/HP_0011912 HP:0011913 biolink:PhenotypicFeature Lumbar hypertrichosis Excessive, increased hair growth located in the lumbar region. UMLS:C4023130 hp.json http://purl.obolibrary.org/obo/HP_0011913 HP:0011914 biolink:PhenotypicFeature Thoracic hypertrichosis Excessive, increased hair growth located in the thoracic region. UMLS:C4023129 hp.json http://purl.obolibrary.org/obo/HP_0011914 HP:0011915 biolink:PhenotypicFeature Cardiovascular calcification Abnormal calcification in the cardiovascular system. UMLS:C4023128 hp.json http://purl.obolibrary.org/obo/HP_0011915 CHEBI:36164 biolink:ChemicalSubstance amino dicarboxylic acid hp.json amino dicarboxylic acids http://purl.obolibrary.org/obo/CHEBI_36164 3_STAR HP:0011916 biolink:PhenotypicFeature Toe extensor amyotrophy Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. UMLS:C4023127 hp.json http://purl.obolibrary.org/obo/HP_0011916 CHEBI:145810 biolink:ChemicalSubstance insulin A peptide hormone which consists of two polypeptide chains, A- and B- chains which are linked together by disulfide bonds. The amino acid sequence of insulin varies across species and certain segments of the molecule are highly conserved. In most species, the A chain consists of 21 amino acids and the B chain consists of 30 amino acids. In mammals, insulin is synthesised in the pancreas within the beta cells whereas in certain species of fish, the insulin-producing tissue is uniquely located in separate structures called Brockmann bodies. PMID:6069707|Wikipedia:Insulin|PMID:19251032|PMID:25848166|PMID:5941964|PMID:12137720 hp.json http://purl.obolibrary.org/obo/CHEBI_145810 3_STAR HP:0011906 biolink:PhenotypicFeature Reduced beta/alpha synthesis ratio A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. UMLS:C4023137 hp.json http://purl.obolibrary.org/obo/HP_0011906 HP:0011907 biolink:PhenotypicFeature Reduced alpha/beta synthesis ratio A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. UMLS:C4023136 hp.json http://purl.obolibrary.org/obo/HP_0011907 HP:0011908 biolink:PhenotypicFeature Unilateral radial aplasia Missing radius bone on one side only associated with congenital failure of development. UMLS:C4023135 hp.json http://purl.obolibrary.org/obo/HP_0011908 HP:0011909 biolink:PhenotypicFeature Flattened metacarpal heads Abnormally flat shape of the heads of the metacarpal bones. UMLS:C4023134 hp.json Flattened head of long bone of hand http://purl.obolibrary.org/obo/HP_0011909 HP:0011900 biolink:PhenotypicFeature Hypofibrinogenemia Decreased concentration of fibrinogen in the blood. UMLS:C0553681|SNOMEDCT_US:234457009 hp.json Low fibrinogen activity|Low fibrinogen level http://purl.obolibrary.org/obo/HP_0011900 HP:0011901 biolink:PhenotypicFeature Dysfibrinogenemia Qualitatively abnormal fibrinogen. SNOMEDCT_US:111589005|UMLS:C1260903 hp.json Dysfibrinogenaemia http://purl.obolibrary.org/obo/HP_0011901 HP:0011902 biolink:PhenotypicFeature Abnormal hemoglobin Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. UMLS:C0349705 hp.json Abnormal Hb|Abnormal haemoglobin http://purl.obolibrary.org/obo/HP_0011902 HP:0011903 biolink:PhenotypicFeature HbH hemoglobin Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia. UMLS:C3161174|SNOMEDCT_US:48553001 hp.json HbH haemoglobin|Hemoglobin H|Haemoglobin H http://purl.obolibrary.org/obo/HP_0011903 HP:0011904 biolink:PhenotypicFeature Persistence of hemoglobin F Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. UMLS:C0239941 hp.json Persistence of HbF|Persistence of haemoglobin F|Increased haemoglobin F|Increased hemoglobin F http://purl.obolibrary.org/obo/HP_0011904 HP:0011905 biolink:PhenotypicFeature Reduced hemoglobin A Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. UMLS:C4023138 hp.json Reduced HbA|Reduced haemoglobin A http://purl.obolibrary.org/obo/HP_0011905 UBERON:0001507 biolink:AnatomicalEntity biceps brachii A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted]. MA:0002269|BTO:0003419|FMA:37670|NCIT:C32200|EHDAA2:0000167|EHDAA:8279|UMLS:C0559499|VHOG:0000861|EMAPA:19108 hp.json biceps|musculus biceps brachii|biceps muscle|biceps cubiti|biceps brachii muscle|biceps brachii %26 brachialis muscles http://purl.obolibrary.org/obo/UBERON_0001507 pheno_slim|uberon_slim UBERON:0001509 biolink:AnatomicalEntity triceps brachii The triceps brachii muscle (Latin for 'three-headed' muscle of the arm, it is called a three headed muscle because there are three bundles of muscle, each of different origin, joining together at the elbow) is the large muscle on the back of the human upper limb. It is the muscle principally responsible for extension of the elbow joint (i.e. straightening of the arm). Though a similarly-named muscle, the triceps surae, is found on the lower leg, the triceps brachii is commonly called simply the 'triceps'. [WP,unvetted]. EHDAA2:0002080|MA:0002399|NCIT:C90604|EMAPA:19111|VHOG:0000851|UMLS:C0559502|EHDAA:8287|FMA:37688|NCIT:C33812 hp.json musculus triceps brachii|triceps|triceps muscle|triceps brachii muscle http://purl.obolibrary.org/obo/UBERON_0001509 pheno_slim|uberon_slim HP:0011970 biolink:PhenotypicFeature Cerebral amyloid angiopathy Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. MSH:D016657|UMLS:C0085220|SNOMEDCT_US:230724001 hp.json http://purl.obolibrary.org/obo/HP_0011970 UBERON:0001508 biolink:AnatomicalEntity arch of aorta The convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery. SCTID:181300001|VHOG:0001196|MA:0000475|EFO:0002526|GAID:471|EHDAA2:0000132|FMA:3768|BTO:0000157|EMAPA:17613|Wikipedia:Arch_of_aorta hp.json thoracic aorta|arcus aortae|aortic arch http://purl.obolibrary.org/obo/UBERON_0001508 pheno_slim|human_reference_atlas|uberon_slim HP:0011971 biolink:PhenotypicFeature Dermatographic urticaria An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). UMLS:C0343065|SNOMEDCT_US:402410006|SNOMEDCT_US:7632005|SNOMEDCT_US:402601007 hp.json Skin writing|Dermographism|Dermatographism http://purl.obolibrary.org/obo/HP_0011971 UBERON:0001503 biolink:AnatomicalEntity dorsal interosseous of manus The dorsal interossei of the hand are muscles that occupy the space between the metacarpals. There are four dorsal interossei in each hand. They are specified as 'dorsal' to contrast them with the palmar interossei, which are located on the anterior side of the metacarpals. The dorsal interosseous muscles are bipennate, with each muscle arising by two heads from the adjacent sides of the metacarpal bones, but more extensively from the metacarpal bone of the finger into which the muscle is inserted. They are inserted into the bases of the proximal phalanges and into the extensor expansion of the corresponding extensor digitorum tendon. The middle digit has two dorsal interossei insert onto it while the first digit (thumb) and the fifth digit (little finger) have none[WP]. FMA:37418|NCIT:C52703|EMAPA:37519|MA:0002314|UMLS:C1744530 hp.json dorsal interosseous muscle of hand|dorsal interosseous of hand|dorsal manus interosseous muscle|musculi interossei dorsales manus|dorsal hand interosseus muscle http://purl.obolibrary.org/obo/UBERON_0001503 UBERON:0001502 biolink:AnatomicalEntity interosseous muscle of manus Any of the interosseous muscles of the manus (hand). This includes the dorsal and plantar interossei. UMLS:C0224295|FMA:37417|NCIT:C53173|EMAPA:36216|MA:0002313 hp.json hand interosseous muscle|interosseous muscle of hand|manus interosseous muscle http://purl.obolibrary.org/obo/UBERON_0001502 pheno_slim HP:0011972 biolink:PhenotypicFeature Hypoglycorrhachia Abnormally low glucose concentration in the cerebrospinal fluid. UMLS:C0598121 hp.json Decreased CSF glucose|Low glucose levels in cerebral spinal fluid http://purl.obolibrary.org/obo/HP_0011972 HP:0011973 biolink:PhenotypicFeature Paroxysmal lethargy Repeated episodes of sudden-onset and transient lethargy. UMLS:C1847507 hp.json http://purl.obolibrary.org/obo/HP_0011973 HP:0011974 biolink:PhenotypicFeature Myelofibrosis Replacement of bone marrow by fibrous tissue. UMLS:C0026987|SNOMEDCT_US:52967002 hp.json http://purl.obolibrary.org/obo/HP_0011974 CHEBI:24163 biolink:ChemicalSubstance galactoside hp.json galactosides|galactoside http://purl.obolibrary.org/obo/CHEBI_24163 3_STAR CHEBI:36149 biolink:ChemicalSubstance 2-hydroxyglutarate(1-) A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxylic acid groups of 2-hydroxyglutaric acid. hp.json hydrogen 2-hydroxypentanedioate http://purl.obolibrary.org/obo/CHEBI_36149 3_STAR CHEBI:36147 biolink:ChemicalSubstance oxo dicarboxylate hp.json oxo dicarboxylates|oxo-dicarboxylic acid dianion|oxo-dicarboxylic acid dianions http://purl.obolibrary.org/obo/CHEBI_36147 3_STAR HP:0008316 biolink:PhenotypicFeature Abnormal mitochondria in muscle tissue An abnormality of the mitochondria in muscle tissue. UMLS:C4021546 hp.json Abnormal mitochondria in muscle http://purl.obolibrary.org/obo/HP_0008316 HP:0008315 biolink:PhenotypicFeature Decreased plasma free carnitine A decreased concentration of free (unbound) carnitine in the blood. UMLS:C4015009 hp.json http://purl.obolibrary.org/obo/HP_0008315 HP:0008318 biolink:PhenotypicFeature Elevated leukocyte alkaline phosphatase Increased alkaline phosphatase measured within leukocytes. UMLS:C4024704 hp.json Elevated leukocyte ALP http://purl.obolibrary.org/obo/HP_0008318 UBERON:0001510 biolink:AnatomicalEntity skin of knee A zone of skin that is part of a knee [Automatically generated definition]. EMAPA:18151|NCIT:C64859|FMA:37800|UMLS:C0222275|MA:0000668 hp.json knee zone of skin|zone of skin of knee|knee skin http://purl.obolibrary.org/obo/UBERON_0001510 HP:0011975 biolink:PhenotypicFeature Aminoglycoside-induced hearing loss Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. UMLS:C4023100 hp.json http://purl.obolibrary.org/obo/HP_0011975 HP:0011976 biolink:PhenotypicFeature Elevated urinary catecholamines An increased concentration of catecholamine in the urine. UMLS:C0241577 hp.json Elevated urinary catecholamines http://purl.obolibrary.org/obo/HP_0011976 CHEBI:36141 biolink:ChemicalSubstance quinone Compounds having a fully conjugated cyclic dione structure, such as that of benzoquinones, derived from aromatic compounds by conversion of an even number of -CH= groups into -C(=O)- groups with any necessary rearrangement of double bonds (polycyclic and heterocyclic analogues are included). Wikipedia:Quinone hp.json Chinon|quinones|quinones|quinone http://purl.obolibrary.org/obo/CHEBI_36141 3_STAR HP:0008311 biolink:PhenotypicFeature Spinal cord posterior columns myelin loss UMLS:C4024706 hp.json http://purl.obolibrary.org/obo/HP_0008311 UBERON:0001512 biolink:AnatomicalEntity skin of ankle A zone of skin that is part of an ankle [Automatically generated definition]. EMAPA:37353|FMA:37831|UMLS:C0222286|NCIT:C52751|MA:0000641 hp.json ankle skin|zone of skin of ankle|ankle zone of skin|tarsal region skin http://purl.obolibrary.org/obo/UBERON_0001512 HP:0011977 biolink:PhenotypicFeature Elevated urinary homovanillic acid An increased concentration of homovanillic acid in the urine. UMLS:C4020736 hp.json Increased urinary homovanillic acid http://purl.obolibrary.org/obo/HP_0011977 HP:0008314 biolink:PhenotypicFeature Decreased activity of mitochondrial complex II A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. UMLS:C4020801|UMLS:C4024705 hp.json Respiratory complex II deficiency http://purl.obolibrary.org/obo/HP_0008314 UBERON:0001511 biolink:AnatomicalEntity skin of leg A zone of skin that is part of a leg [Automatically generated definition]. NCIT:C52749|EMAPA:37352|EMAPA:18159|MA:0000674|EMAPA:18156|FMA:37828|UMLS:C0222279 hp.json leg zone of skin|zone of skin of leg|leg skin http://purl.obolibrary.org/obo/UBERON_0001511 HP:0011978 biolink:PhenotypicFeature Elevated urinary vanillylmandelic acid An increased concentration of vanillylmandelic acid in the urine. UMLS:C4020735 hp.json Increased urinary vanillylmandelic acid http://purl.obolibrary.org/obo/HP_0011978 HP:0011979 biolink:PhenotypicFeature Elevated urinary dopamine An increased concentration of dopamine in the urine. UMLS:C4023099 hp.json Elevated urinary dopamine http://purl.obolibrary.org/obo/HP_0011979 CHEBI:36145 biolink:ChemicalSubstance oxo dicarboxylic acid Any dicarboxylic acid carrying one or more oxo groups. hp.json oxo dicarboxylic acids http://purl.obolibrary.org/obo/CHEBI_36145 3_STAR HP:0011960 biolink:PhenotypicFeature Substantia nigra gliosis Focal proliferation of glial cells in the substantia nigra. UMLS:C1846865 hp.json http://purl.obolibrary.org/obo/HP_0011960 HP:0011961 biolink:PhenotypicFeature Non-obstructive azoospermia Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. UMLS:C4021107 hp.json Testicular azoospermia http://purl.obolibrary.org/obo/HP_0011961 HP:0011962 biolink:PhenotypicFeature Obstructive azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. UMLS:C4023106 hp.json http://purl.obolibrary.org/obo/HP_0011962 HP:0011963 biolink:PhenotypicFeature Pretesticular azoospermia Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels. UMLS:C4023105 hp.json http://purl.obolibrary.org/obo/HP_0011963 HP:0008327 biolink:PhenotypicFeature Microscopic nephrocalcinosis The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. UMLS:C0403474|SNOMEDCT_US:236444003 hp.json http://purl.obolibrary.org/obo/HP_0008327 HP:0008326 biolink:PhenotypicFeature Reduced circulating vitamin B6 level An abnormally decreased concentration of vitamin B6 in the blood circulation. MSH:D026681|UMLS:C0936215|SNOMEDCT_US:386080007 hp.json Reduced vitamin b6 levels|Vitamin B6 deficiency http://purl.obolibrary.org/obo/HP_0008326 HP:0011964 biolink:PhenotypicFeature Intermittent painful muscle spasms History of repeated intermittent involuntary muscle contractions that were painful. UMLS:C4023104 hp.json http://purl.obolibrary.org/obo/HP_0011964 HP:0008323 biolink:PhenotypicFeature Abnormal light- and dark-adapted electroretinogram An abnormality of the combined rod-and-cone response on electroretinogram. UMLS:C3151111 hp.json Abnormal rod and cone electroretinogram http://purl.obolibrary.org/obo/HP_0008323 HP:0008322 biolink:PhenotypicFeature Abnormal mitochondrial morphology Any structural anomaly of the mitochondria. UMLS:C4014650 hp.json Abnormal mitochondrion morphology http://purl.obolibrary.org/obo/HP_0008322 HP:0011965 biolink:PhenotypicFeature Abnormal circulating citrulline concentration Any deviation from the normal concentration of citrulline in the blood circulation. UMLS:C4023103 hp.json http://purl.obolibrary.org/obo/HP_0011965 HP:0011966 biolink:PhenotypicFeature Elevated plasma citrulline An increased concentration of citrulline in the blood. UMLS:C4023102 hp.json http://purl.obolibrary.org/obo/HP_0011966 UBERON:0001500 biolink:AnatomicalEntity muscle of manus Any muscle organ that is part of a manus [Automatically generated definition]. EMAPA:32644|MA:0000628|FMA:37372 hp.json manus muscle organ|manus muscle|muscle of hand|muscle organ of manus|hand muscle http://purl.obolibrary.org/obo/UBERON_0001500 HP:0011967 biolink:PhenotypicFeature Decreased circulating copper concentration A reduced concentration of copper in the blood. SNOMEDCT_US:19577007|UMLS:C0268070 hp.json Hypocupremia|Reduced serum copper|Copper deficiency http://purl.obolibrary.org/obo/HP_0011967 HP:0011968 biolink:PhenotypicFeature Feeding difficulties Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. UMLS:C0232466|SNOMEDCT_US:78164000 hp.json Poor feeding|Feeding difficulties|Feeding problems http://purl.obolibrary.org/obo/HP_0011968 hposlim_core HP:0011969 biolink:PhenotypicFeature Elevated circulating luteinizing hormone level An elevated concentration of luteinizing hormone in the blood. UMLS:C4023101 hp.json Elevated LH level|Elevated luteinizing hormone|Increased circulating luteinizing hormone level http://purl.obolibrary.org/obo/HP_0011969 HP:0008321 biolink:PhenotypicFeature Reduced factor X activity Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). SNOMEDCT_US:76642003|UMLS:C4024702|MSH:D005171|UMLS:C0015519 hp.json Decreased factor x activity|Factor X deficiency http://purl.obolibrary.org/obo/HP_0008321 HP:0008320 biolink:PhenotypicFeature Impaired collagen-induced platelet aggregation Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. UMLS:C4024703 hp.json http://purl.obolibrary.org/obo/HP_0008320 CHEBI:24148 biolink:ChemicalSubstance galactonate hp.json http://purl.obolibrary.org/obo/CHEBI_24148 3_STAR HP:0011950 biolink:PhenotypicFeature Bronchiolitis Inflammation of the bronchioles. SNOMEDCT_US:4120002|UMLS:C0006271|MSH:D001988 hp.json http://purl.obolibrary.org/obo/HP_0011950 HP:0011951 biolink:PhenotypicFeature Aspiration pneumonia Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. UMLS:C0032290|MSH:D011015|SNOMEDCT_US:422588002 hp.json http://purl.obolibrary.org/obo/HP_0011951 CHEBI:24149 biolink:ChemicalSubstance galactonic acid A hexonic acid that has been found to increase in red blood cells of galactosemic patients. PMID:14680973 hp.json http://purl.obolibrary.org/obo/CHEBI_24149 3_STAR HP:0011952 biolink:PhenotypicFeature Acute aspiration pneumonia An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. SNOMEDCT_US:35031000119100|UMLS:C4023111 hp.json http://purl.obolibrary.org/obo/HP_0011952 HGNC:553 biolink:Gene AOX1 (human) A protein coding gene AOX1 in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=553 HP:0011953 biolink:PhenotypicFeature Pulmonary lymphoma Lung parenchymal involvement with lymphoma. UMLS:C0519063 hp.json http://purl.obolibrary.org/obo/HP_0011953 HP:0011954 biolink:PhenotypicFeature Nodular regenerative hyperplasia of liver Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. SNOMEDCT_US:715140008|UMLS:C1318485|SNOMEDCT_US:65860006 hp.json Partial nodular transformation of liver|Nodular transformation of liver|Noncirrhotic nodulation http://purl.obolibrary.org/obo/HP_0011954 HP:0011955 biolink:PhenotypicFeature Hepatic granulomatosis The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. UMLS:C4023110 hp.json http://purl.obolibrary.org/obo/HP_0011955 HP:0011956 biolink:PhenotypicFeature Intestinal lymphoid nodular hyperplasia A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. UMLS:C4023109 hp.json http://purl.obolibrary.org/obo/HP_0011956 HP:0011957 biolink:PhenotypicFeature Abnormal pectoral muscle morphology An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. UMLS:C4023108 hp.json Abnormal pec muscles http://purl.obolibrary.org/obo/HP_0011957 HP:0011958 biolink:PhenotypicFeature Retinal perforation A small hole through the whole thickness of the retina. SNOMEDCT_US:40024006|SNOMEDCT_US:95690009|SNOMEDCT_US:232003005|MSH:D012167|SNOMEDCT_US:302888003|UMLS:C0035321 hp.json Torn retina|Retinal tear http://purl.obolibrary.org/obo/HP_0011958 HP:0011959 biolink:PhenotypicFeature Unilateral hypoplasia of pectoralis major muscle Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. UMLS:C4023107 hp.json Small pec muscle on one side|Underdeveloped pec muscle on one side http://purl.obolibrary.org/obo/HP_0011959 HP:0011940 biolink:PhenotypicFeature Anterior wedging of T12 An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front). UMLS:C4021108 hp.json Wedge-shaped 12th thoracic vertebra|Anterior wedging of the 12th thoracic vertebra http://purl.obolibrary.org/obo/HP_0011940 HP:0011941 biolink:PhenotypicFeature Anterior wedging of L2 An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). UMLS:C4023114 hp.json http://purl.obolibrary.org/obo/HP_0011941 HP:0008309 biolink:PhenotypicFeature Medium chain dicarboxylic aciduria An increase in the level of medium chain dicarboxylic acid in the urine. UMLS:C1860081 hp.json http://purl.obolibrary.org/obo/HP_0008309 HP:0008305 biolink:PhenotypicFeature Exercise-induced myoglobinuria Presence of myoglobin in the urine following exercise. UMLS:C1860069|UMLS:C1845155 hp.json Exercise-induced myoglobinuria in adults http://purl.obolibrary.org/obo/HP_0008305 CHEBI:63726 biolink:ChemicalSubstance neuroprotective agent Any compound that can be used for the treatment of neurodegenerative disorders. hp.json neuroprotective agents|neuroprotectant|neuroprotectants http://purl.obolibrary.org/obo/CHEBI_63726 3_STAR HP:0008306 biolink:PhenotypicFeature Abnormal iron deposition in mitochondria UMLS:C3151556 hp.json http://purl.obolibrary.org/obo/HP_0008306 HP:0011942 biolink:PhenotypicFeature Increased urinary sulfite Increased concentration of SO3(2-), i.e., sulfite, in the urine. UMLS:C1848957 hp.json http://purl.obolibrary.org/obo/HP_0011942 HP:0008301 biolink:PhenotypicFeature Dermatan sulfate excretion in urine An increased concentration of dermatan sulfate in the urine. UMLS:C1854774 hp.json Dermatan sulphate excretion in urine http://purl.obolibrary.org/obo/HP_0008301 HP:0011943 biolink:PhenotypicFeature Increased urinary thiosulfate Increased concentration of thiosulfate(2-) in the urine. UMLS:C3148695 hp.json http://purl.obolibrary.org/obo/HP_0011943 HP:0011944 biolink:PhenotypicFeature Small vessel vasculitis A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. UMLS:C4023113 hp.json http://purl.obolibrary.org/obo/HP_0011944 HP:0008303 biolink:PhenotypicFeature Olivary degeneration Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata. UMLS:C4024707 hp.json http://purl.obolibrary.org/obo/HP_0008303 HP:0011945 biolink:PhenotypicFeature Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss. SNOMEDCT_US:129458007|MSH:D018549|UMLS:C0242770 hp.json BOOP|Cryptogenic organising pneumonia|Bronchiolitis obliterans organising pneumonia|Cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/HP_0011945 HP:0011946 biolink:PhenotypicFeature Bronchiolitis obliterans Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways. MSH:D001989|SNOMEDCT_US:40100001|UMLS:C2350875|UMLS:C0006272 hp.json Constrictive bronchiolitis|Obliterative bronchiolitis http://purl.obolibrary.org/obo/HP_0011946 CHEBI:38796 biolink:ChemicalSubstance pteroates hp.json http://purl.obolibrary.org/obo/CHEBI_38796 3_STAR HP:0011947 biolink:PhenotypicFeature Respiratory tract infection An infection of the upper or lower respiratory tract. UMLS:C0035243|MSH:D012141|SNOMEDCT_US:275498002 hp.json Respiratory tract infection|Respiratory infections|Respiratory infection http://purl.obolibrary.org/obo/HP_0011947 CHEBI:38795 biolink:ChemicalSubstance pteroic acids hp.json http://purl.obolibrary.org/obo/CHEBI_38795 3_STAR CHEBI:38794 biolink:ChemicalSubstance pteroic acid DrugBank:DB04196|CAS:119-24-4 hp.json Pteroinsaeure|Pteroic acid http://purl.obolibrary.org/obo/CHEBI_38794 3_STAR HP:0011948 biolink:PhenotypicFeature Recurrent acute respiratory tract infection A history of repeated acute infections of the upper or lower respiratory tract. UMLS:C1442786 hp.json Acute respiratory tract infection http://purl.obolibrary.org/obo/HP_0011948 CHEBI:38793 biolink:ChemicalSubstance pteroate hp.json http://purl.obolibrary.org/obo/CHEBI_38793 3_STAR HP:0011949 biolink:PhenotypicFeature Acute infectious pneumonia Acute inflammation of the lung due to an infection. UMLS:C4023112 hp.json http://purl.obolibrary.org/obo/HP_0011949 GO:0048585 biolink:BiologicalProcess negative regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. hp.json downregulation of response to stimulus|down regulation of response to stimulus|inhibition of response to stimulus|down-regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048585 gocheck_do_not_manually_annotate GO:0048584 biolink:BiologicalProcess positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. hp.json stimulation of response to stimulus|up-regulation of response to stimulus|activation of response to stimulus|upregulation of response to stimulus|up regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048584 gocheck_do_not_manually_annotate GO:0048583 biolink:BiologicalProcess regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. hp.json http://purl.obolibrary.org/obo/GO_0048583 gocheck_do_not_manually_annotate GO:0048582 biolink:BiologicalProcess positive regulation of post-embryonic development Any process that activates or increases the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. hp.json upregulation of post-embryonic development|up regulation of post-embryonic development|stimulation of post-embryonic development|up-regulation of post-embryonic development|activation of post-embryonic development http://purl.obolibrary.org/obo/GO_0048582 GO:0048581 biolink:BiologicalProcess negative regulation of post-embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. hp.json down-regulation of post-embryonic development|downregulation of post-embryonic development|down regulation of post-embryonic development|inhibition of post-embryonic development http://purl.obolibrary.org/obo/GO_0048581 GO:0048580 biolink:BiologicalProcess regulation of post-embryonic development Any process that modulates the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0048580 GO:0048589 biolink:BiologicalProcess developmental growth The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another. hp.json http://purl.obolibrary.org/obo/GO_0048589 GO:0048588 biolink:BiologicalProcess developmental cell growth The growth of a cell, where growth contributes to the progression of the cell over time from one condition to another. hp.json developmental growth of a unicellular organism http://purl.obolibrary.org/obo/GO_0048588 GO:0061560 biolink:BiologicalProcess cranial ganglion formation The process that gives rise to a cranial ganglion. This process pertains to the initial formation of a structure from unspecified parts. hp.json cranial ganglia formation http://purl.obolibrary.org/obo/GO_0061560 GO:0061561 biolink:BiologicalProcess trigeminal ganglion formation The process that gives rise to the trigeminal ganglion. This process pertains to the initial formation of a structure from unspecified parts. hp.json trigeminal ganglia formation http://purl.obolibrary.org/obo/GO_0061561 GO:0061564 biolink:BiologicalProcess axon development The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation). hp.json http://purl.obolibrary.org/obo/GO_0061564 GO:0097512 biolink:CellularComponent cardiac myofibril A cardiac myofibril is a myofibril specific to cardiac muscle cells. hp.json http://purl.obolibrary.org/obo/GO_0097512 GO:0097511 biolink:CellularComponent dendritic cell dendrite A branched cellular projection (or cytoplasmic extension) that is extended from the surface of a dendritic immune cell, and which enables the cell to sample luminal pathogens and increase the surface area for antigen presentation to T cells. hp.json http://purl.obolibrary.org/obo/GO_0097511 GO:0048596 biolink:BiologicalProcess embryonic camera-type eye morphogenesis The process in which the anatomical structures of the eye are generated and organized during embryonic development. hp.json embryonic eye morphogenesis http://purl.obolibrary.org/obo/GO_0048596 GO:0048593 biolink:BiologicalProcess camera-type eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. hp.json camera-style eye morphogenesis http://purl.obolibrary.org/obo/GO_0048593 GO:0048592 biolink:BiologicalProcess eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0048592 GO:1901338 biolink:MolecularActivity catecholamine binding Binding to catecholamine. hp.json http://purl.obolibrary.org/obo/GO_1901338 GO:1903999 biolink:BiologicalProcess negative regulation of eating behavior Any process that stops, prevents or reduces the frequency, rate or extent of eating behavior. hp.json down regulation of eating behavior|inhibition of eating behaviour|down-regulation of eating behaviour|negative regulation of eating behaviour|downregulation of eating behavior|inhibition of eating behavior|downregulation of eating behaviour|down-regulation of eating behavior|down regulation of eating behaviour http://purl.obolibrary.org/obo/GO_1903999 GO:1903998 biolink:BiologicalProcess regulation of eating behavior Any process that modulates the frequency, rate or extent of eating behavior. hp.json regulation of eating behaviour http://purl.obolibrary.org/obo/GO_1903998 GO:1901334 biolink:BiologicalProcess lactone metabolic process The chemical reactions and pathways involving lactone. hp.json lactone metabolism http://purl.obolibrary.org/obo/GO_1901334 GO:0048599 biolink:BiologicalProcess oocyte development The process whose specific outcome is the progression of an oocyte over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. hp.json http://purl.obolibrary.org/obo/GO_0048599 GO:0061550 biolink:BiologicalProcess cranial ganglion development The process whose specific outcome is the progression of a cranial ganglion over time, from its formation to the mature structure. hp.json cranial ganglia development http://purl.obolibrary.org/obo/GO_0061550 GO:0048598 biolink:BiologicalProcess embryonic morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. hp.json embryonic anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0048598 GO:0061551 biolink:BiologicalProcess trigeminal ganglion development The process whose specific outcome is the progression of a trigeminal ganglion over time, from its formation to the mature structure. hp.json trigeminal ganglia development http://purl.obolibrary.org/obo/GO_0061551 GO:0061552 biolink:BiologicalProcess ganglion morphogenesis The process in which the anatomical structures of ganglion are generated and organized. hp.json ganglia morphogenesis http://purl.obolibrary.org/obo/GO_0061552 GO:0061553 biolink:BiologicalProcess ganglion maturation A developmental process, independent of morphogenetic (shape) change, that is required for ganglion to attain its fully functional state. hp.json ganglia maturation http://purl.obolibrary.org/obo/GO_0061553 GO:0061554 biolink:BiologicalProcess ganglion formation The process that gives rise to ganglion. This process pertains to the initial formation of a structure from unspecified parts. hp.json ganglia formation http://purl.obolibrary.org/obo/GO_0061554 GO:0061556 biolink:BiologicalProcess trigeminal ganglion morphogenesis The process in which the anatomical structure of a trigeminal ganglion is generated and organized. hp.json trigeminal ganglia morphogenesis http://purl.obolibrary.org/obo/GO_0061556 GO:0061557 biolink:BiologicalProcess trigeminal ganglion maturation A developmental process, independent of morphogenetic (shape) change, that is required for a trigeminal ganglion to attain its fully functional state. hp.json trigeminal ganglia maturation http://purl.obolibrary.org/obo/GO_0061557 SO:0000704 biolink:SequenceFeature gene A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. hp.json http://purl.obolibrary.org/obo/SO_0000704 GO:0061558 biolink:BiologicalProcess cranial ganglion maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cranial ganglion to attain its fully functional state. hp.json cranial ganglia maturation http://purl.obolibrary.org/obo/GO_0061558 GO:0061559 biolink:BiologicalProcess cranial ganglion morphogenesis The process in which the anatomical structure of a cranial ganglion is generated and organized. hp.json cranial ganglia morphogenesis http://purl.obolibrary.org/obo/GO_0061559 GO:0097529 biolink:BiologicalProcess myeloid leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. hp.json http://purl.obolibrary.org/obo/GO_0097529 PATO:0005021 biolink:NamedThing unicuspidate hp.json http://purl.obolibrary.org/obo/PATO_0005021 GO:0061580 biolink:BiologicalProcess colon epithelial cell migration The orderly movement of a colonic epithelial cell from one site to another, often during the development of a multicellular organism. hp.json http://purl.obolibrary.org/obo/GO_0061580 GO:1901343 biolink:BiologicalProcess negative regulation of vasculature development Any process that stops, prevents or reduces the frequency, rate or extent of vasculature development. hp.json negative regulation of vascular system development|down-regulation of vascular system development|down regulation of vascular system development|down-regulation of vasculature development|downregulation of vascular system development|down regulation of vasculature development|inhibition of vasculature development|downregulation of vasculature development|inhibition of vascular system development http://purl.obolibrary.org/obo/GO_1901343 GO:0061581 biolink:BiologicalProcess corneal epithelial cell migration The orderly movement of a corneal epithelial cell from one site to another, often during the development of a multicellular organism. hp.json http://purl.obolibrary.org/obo/GO_0061581 GO:0061582 biolink:BiologicalProcess intestinal epithelial cell migration The orderly movement of an intestinal epithelial cell from one site to another, often during the development of a multicellular organism. hp.json http://purl.obolibrary.org/obo/GO_0061582 GO:1901342 biolink:BiologicalProcess regulation of vasculature development Any process that modulates the frequency, rate or extent of vasculature development. hp.json regulation of vascular system development http://purl.obolibrary.org/obo/GO_1901342 GO:1901362 biolink:BiologicalProcess organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. hp.json organic cyclic compound biosynthesis|organic cyclic compound formation|organic cyclic compound anabolism|organic cyclic compound synthesis http://purl.obolibrary.org/obo/GO_1901362 CL:0001200 biolink:Cell lymphocyte of B lineage, CD19-positive A lymphocyte of B lineage that is CD19-positive. hp.json http://purl.obolibrary.org/obo/CL_0001200 GO:1901360 biolink:BiologicalProcess organic cyclic compound metabolic process The chemical reactions and pathways involving organic cyclic compound. hp.json organic cyclic compound metabolism http://purl.obolibrary.org/obo/GO_1901360 CL:0001201 biolink:Cell B cell, CD19-positive A B cell that is CD19-positive. hp.json CD19-positive B cell|B-lymphocyte, CD19-positive|CD19+ B cell|B lymphocyte, CD19-positive|B-cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001201 CL:0001204 biolink:Cell CD4-positive, alpha-beta memory T cell, CD45RO-positive CD4-positive, alpha-beta long-lived T cell with the phenotype CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp.json CD4-positive, alpha-beta memory T lymphocyte, CD45RO-positive|CD4-positive, alpha-beta memory T-cell, CD45RO-positive|CD4-positive, alpha-beta memory T-lymphocyte, CD45RO-positive http://purl.obolibrary.org/obo/CL_0001204 CL:0001203 biolink:Cell CD8-positive, alpha-beta memory T cell, CD45RO-positive A CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp.json CD8-positive, alpha-beta memory T-lymphocyte, CD45RO-positive|CD8-positive, alpha-beta memory T lymphocyte, CD45RO-positive|CD8-positive, alpha-beta memory T-cell, CD45RO-positive http://purl.obolibrary.org/obo/CL_0001203 GO:1901363 biolink:MolecularActivity heterocyclic compound binding Binding to heterocyclic compound. hp.json http://purl.obolibrary.org/obo/GO_1901363 HGNC:9445 biolink:Gene PRL (human) A protein coding gene PRL in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9445 GO:1901383 biolink:BiologicalProcess negative regulation of chorionic trophoblast cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of chorionic trophoblast cell proliferation. hp.json downregulation of chorionic trophoblast cell proliferation|down regulation of chorionic trophoblast cell proliferation|inhibition of chorionic trophoblast cell proliferation|down-regulation of chorionic trophoblast cell proliferation http://purl.obolibrary.org/obo/GO_1901383 GO:1901384 biolink:BiologicalProcess positive regulation of chorionic trophoblast cell proliferation Any process that activates or increases the frequency, rate or extent of chorionic trophoblast cell proliferation. hp.json up regulation of chorionic trophoblast cell proliferation|up-regulation of chorionic trophoblast cell proliferation|activation of chorionic trophoblast cell proliferation|upregulation of chorionic trophoblast cell proliferation http://purl.obolibrary.org/obo/GO_1901384 GO:1901382 biolink:BiologicalProcess regulation of chorionic trophoblast cell proliferation Any process that modulates the frequency, rate or extent of chorionic trophoblast cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_1901382 GO:0097530 biolink:BiologicalProcess granulocyte migration The movement of a granulocyte within or between different tissues and organs of the body. hp.json http://purl.obolibrary.org/obo/GO_0097530 GO:0097534 biolink:BiologicalProcess lymphoid lineage cell migration The orderly movement of a lymphoid lineage cell from one site to another. A lymphoid lineage cell, also called a lymphoid lineage restricted progenitor cell, is a progenitor cell restricted to the lymphoid lineage. hp.json lymphoid lineage restricted progenitor cell migration http://purl.obolibrary.org/obo/GO_0097534 HP:0033282 biolink:PhenotypicFeature Abnormal glomerular basement membrane morphology Any abnormal sttructure of the glomerular basement membrane. hp.json http://purl.obolibrary.org/obo/HP_0033282 HP:0033281 biolink:PhenotypicFeature Circulating nucleated red blood cells The presence of nucleated red blood cells in the peripheral blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033281 HP:0033284 biolink:PhenotypicFeature Diffusely thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. hp.json http://purl.obolibrary.org/obo/HP_0033284 GO:1903905 biolink:BiologicalProcess positive regulation of establishment of T cell polarity Any process that activates or increases the frequency, rate or extent of establishment of T cell polarity. hp.json upregulation of establishment of T-lymphocyte polarity|activation of establishment of T cell polarity|up-regulation of establishment of T cell polarity|up-regulation of T lymphocyte polarization|up-regulation of T-cell polarization|upregulation of establishment of T lymphocyte polarity|up regulation of T lymphocyte polarization|activation of T lymphocyte polarization|up-regulation of T cell polarization|upregulation of establishment of T-cell polarity|up regulation of T-cell polarization|positive regulation of establishment of T-lymphocyte polarity|activation of T-cell polarization|positive regulation of T lymphocyte polarization|positive regulation of T-cell polarization|up regulation of establishment of T-lymphocyte polarity|upregulation of establishment of T cell polarity|up regulation of T cell polarization|positive regulation of establishment of T lymphocyte polarity|positive regulation of establishment of T-cell polarity|activation of T cell polarization|positive regulation of T cell polarization|up-regulation of establishment of T-lymphocyte polarity|upregulation of T lymphocyte polarization|up regulation of establishment of T lymphocyte polarity|activation of establishment of T-lymphocyte polarity|upregulation of T-cell polarization|up regulation of establishment of T-cell polarity|up-regulation of establishment of T lymphocyte polarity|activation of establishment of T lymphocyte polarity|upregulation of T cell polarization|up-regulation of establishment of T-cell polarity|up regulation of establishment of T cell polarity|activation of establishment of T-cell polarity http://purl.obolibrary.org/obo/GO_1903905 HP:0033283 biolink:PhenotypicFeature Segmentally thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. hp.json http://purl.obolibrary.org/obo/HP_0033283 GO:1903904 biolink:BiologicalProcess negative regulation of establishment of T cell polarity Any process that stops, prevents or reduces the frequency, rate or extent of establishment of T cell polarity. hp.json down regulation of establishment of T-cell polarity|inhibition of T-cell polarization|downregulation of T-cell polarization|inhibition of establishment of T lymphocyte polarity|down-regulation of establishment of T lymphocyte polarity|inhibition of establishment of T-cell polarity|negative regulation of establishment of T lymphocyte polarity|negative regulation of establishment of T-cell polarity|down-regulation of establishment of T-cell polarity|down regulation of establishment of T cell polarity|inhibition of T cell polarization|downregulation of T cell polarization|inhibition of establishment of T cell polarity|down-regulation of establishment of T cell polarity|down-regulation of T lymphocyte polarization|downregulation of establishment of T-lymphocyte polarity|negative regulation of T lymphocyte polarization|negative regulation of T-cell polarization|down-regulation of T-cell polarization|downregulation of establishment of T lymphocyte polarity|down regulation of T lymphocyte polarization|down regulation of establishment of T-lymphocyte polarity|negative regulation of T cell polarization|down regulation of T-cell polarization|downregulation of establishment of T-cell polarity|down-regulation of T cell polarization|inhibition of establishment of T-lymphocyte polarity|down regulation of T cell polarization|downregulation of T lymphocyte polarization|inhibition of T lymphocyte polarization|down-regulation of establishment of T-lymphocyte polarity|negative regulation of establishment of T-lymphocyte polarity|down regulation of establishment of T lymphocyte polarity|downregulation of establishment of T cell polarity http://purl.obolibrary.org/obo/GO_1903904 HP:0200011 biolink:PhenotypicFeature Abnormal length of corpus callosum UMLS:C4021903 hp.json http://purl.obolibrary.org/obo/HP_0200011 GO:1903903 biolink:BiologicalProcess regulation of establishment of T cell polarity Any process that modulates the frequency, rate or extent of establishment of T cell polarity. hp.json regulation of T cell polarization|regulation of establishment of T-lymphocyte polarity|regulation of establishment of T lymphocyte polarity|regulation of T lymphocyte polarization|regulation of T-cell polarization|regulation of establishment of T-cell polarity http://purl.obolibrary.org/obo/GO_1903903 HP:0033280 biolink:PhenotypicFeature Paratracheal lymphadenopathy Enlargement of lymph nodes surrounding the trachea. hp.json http://purl.obolibrary.org/obo/HP_0033280 GO:0048505 biolink:BiologicalProcess regulation of timing of cell differentiation The process controlling the activation and/or rate at which relatively unspecialized cells acquire specialized features. Any process that modulates the rate, frequency or extent of the XXX at a consistent predetermined time point during its development. hp.json timing of cell differentiation http://purl.obolibrary.org/obo/GO_0048505 HP:0200015 biolink:PhenotypicFeature Symmetric great toe depigmentation UMLS:C4021900 hp.json http://purl.obolibrary.org/obo/HP_0200015 HP:0033289 biolink:PhenotypicFeature Glomerular basement membrane wrinkling Irregular folding of the glomerular basement membrane with an intact lamina densa. hp.json http://purl.obolibrary.org/obo/HP_0033289 HP:0200013 biolink:PhenotypicFeature Neoplasm of fatty tissue A tumor (abnormal growth of tissue) of adipose tissue. UMLS:C4021901|NCIT:C3262 hp.json Tumour of fatty tissue|Tumor of fatty tissue http://purl.obolibrary.org/obo/HP_0200013 HP:0200012 biolink:PhenotypicFeature Short corpus callosum UMLS:C4021902 hp.json http://purl.obolibrary.org/obo/HP_0200012 HP:0033286 biolink:PhenotypicFeature Thickened glomerular basement membranes with electron dense deposits hp.json http://purl.obolibrary.org/obo/HP_0033286 HP:0033285 biolink:PhenotypicFeature Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. hp.json http://purl.obolibrary.org/obo/HP_0033285 HP:0200018 biolink:PhenotypicFeature Protanomaly A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. SNOMEDCT_US:51445007|MSH:D003117|UMLS:C0155015|UMLS:C3887980 hp.json Red-weak|Colorblindness, partial, protan series http://purl.obolibrary.org/obo/HP_0200018 HP:0033288 biolink:PhenotypicFeature Glomerular basement membrane spikes hp.json http://purl.obolibrary.org/obo/HP_0033288 HP:0200017 biolink:PhenotypicFeature Cerebral white matter agenesis Congenital defect with failure of the development of the cerebral white matter. UMLS:C1859969 hp.json White matter agenesis|Agenesis of the cerebral white matter http://purl.obolibrary.org/obo/HP_0200017 HP:0200016 biolink:PhenotypicFeature Acrokeratosis Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. UMLS:C0001202|SNOMEDCT_US:46629009 hp.json Acral keratosis http://purl.obolibrary.org/obo/HP_0200016 HP:0033287 biolink:PhenotypicFeature Glomerular basement membrane lucencies Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. hp.json http://purl.obolibrary.org/obo/HP_0033287 CHEBI:26708 biolink:ChemicalSubstance sodium atom Gmelin:16221|WebElements:Na|KEGG:C01330|CAS:7440-23-5 hp.json sodium|sodium|Natrium|11Na|Na|sodio|natrium http://purl.obolibrary.org/obo/CHEBI_26708 3_STAR CHEBI:26712 biolink:ChemicalSubstance sodium molecular entity hp.json sodium molecular entities|sodium compounds http://purl.obolibrary.org/obo/CHEBI_26712 3_STAR HP:0033293 biolink:PhenotypicFeature Glomerular hyaline pseudothrombus Intracapillary amorphous, eosinophilic material consisting of immune deposits. hp.json http://purl.obolibrary.org/obo/HP_0033293 HP:0033292 biolink:PhenotypicFeature Glomerular fibrin thrombus An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. hp.json http://purl.obolibrary.org/obo/HP_0033292 HP:0033295 biolink:PhenotypicFeature Mesangial Immune complex deposition Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. hp.json http://purl.obolibrary.org/obo/HP_0033295 CHEBI:26714 biolink:ChemicalSubstance sodium salt hp.json http://purl.obolibrary.org/obo/CHEBI_26714 HP:0033294 biolink:PhenotypicFeature Glomerular lipoprotein thrombus Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. hp.json http://purl.obolibrary.org/obo/HP_0033294 PR:000013883 biolink:Protein renin An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. IUPHARobj:2413 hp.json angiotensinogenase|REN http://purl.obolibrary.org/obo/PR_000013883 HP:0200022 biolink:PhenotypicFeature Choroid plexus papilloma Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus. NCIT:C3698|SNOMEDCT_US:18021007|UMLS:C0205770|MSH:D020288 hp.json http://purl.obolibrary.org/obo/HP_0200022 HP:0200021 biolink:PhenotypicFeature Down-sloping shoulders Low set, steeply sloping shoulders. UMLS:C1856872 hp.json Rounded, sloping shoulders|Rounded shoulders|Down-sloping shoulders|Sloping shoulders http://purl.obolibrary.org/obo/HP_0200021 hposlim_core HP:0200020 biolink:PhenotypicFeature Corneal erosion An erosion or abrasion of the cornea's outermost layer of epithelial cells. UMLS:C0392163|SNOMEDCT_US:50792001 hp.json Damage to outer layer of the cornea of the eye http://purl.obolibrary.org/obo/HP_0200020 hposlim_core HP:0033291 biolink:PhenotypicFeature Glomerular karyhorrhectic debris Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. hp.json http://purl.obolibrary.org/obo/HP_0033291 HP:0033290 biolink:PhenotypicFeature Glomerular subendothelial widening Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. hp.json http://purl.obolibrary.org/obo/HP_0033290 HP:0200026 biolink:PhenotypicFeature Ocular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. MSH:D058447|UMLS:C0151827|SNOMEDCT_US:41652007 hp.json Eye pain http://purl.obolibrary.org/obo/HP_0200026 GO:0048515 biolink:NamedThing spermatid differentiation hp.json http://purl.obolibrary.org/obo/GO_0048515 HP:0200025 biolink:PhenotypicFeature Mandibular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. UMLS:C0236000|SNOMEDCT_US:274667000 hp.json Lower jaw pain http://purl.obolibrary.org/obo/HP_0200025 HP:0200024 biolink:PhenotypicFeature Premature chromatid separation The presence of premature sister chromatid segregation. UMLS:C4021899 hp.json http://purl.obolibrary.org/obo/HP_0200024 GO:0048514 biolink:BiologicalProcess blood vessel morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. hp.json http://purl.obolibrary.org/obo/GO_0048514 HP:0200023 biolink:PhenotypicFeature Priapism A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours. UMLS:C0033117|SNOMEDCT_US:6273006|MSH:D011317 hp.json hulseyism http://purl.obolibrary.org/obo/HP_0200023 GO:0048513 biolink:BiologicalProcess animal organ development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. Wikipedia:Organogenesis hp.json development of an organ|organogenesis http://purl.obolibrary.org/obo/GO_0048513 HP:0033297 biolink:PhenotypicFeature Multinucleated visceral epithelial cells Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. hp.json Podocyte multinucleation|Multinucleated podocytes http://purl.obolibrary.org/obo/HP_0033297 GO:0048512 biolink:BiologicalProcess circadian behavior The specific behavior of an organism that recurs with a regularity of approximately 24 hours. hp.json circadian rhythm behavior http://purl.obolibrary.org/obo/GO_0048512 HP:0200029 biolink:PhenotypicFeature Vasculitis in the skin SNOMEDCT_US:53312001|UMLS:C0262988 hp.json Cutaneous vasculitis http://purl.obolibrary.org/obo/HP_0200029 GO:0048511 biolink:BiologicalProcess rhythmic process Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. hp.json rhythm http://purl.obolibrary.org/obo/GO_0048511 goslim_pir HP:0033296 biolink:PhenotypicFeature Binucleated visceral epithelial cells Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. hp.json Binucleated podocytes http://purl.obolibrary.org/obo/HP_0033296 HP:0033299 biolink:PhenotypicFeature Reduced circulating complement factor H related protein 1 concentration Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033299 HP:0200028 biolink:PhenotypicFeature Pretibial myxedema A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet. UMLS:C0033103|UMLS:C0342554|SNOMEDCT_US:78146007|SNOMEDCT_US:237825005 hp.json Graves dermopathy http://purl.obolibrary.org/obo/HP_0200028 HP:0033298 biolink:PhenotypicFeature Abnormal circulating complement factor H related protein 1 concentration A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1) hp.json http://purl.obolibrary.org/obo/HP_0033298 GO:0048519 biolink:BiologicalProcess negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. hp.json downregulation of biological process|negative regulation of physiological process|down regulation of biological process|inhibition of biological process|down-regulation of biological process http://purl.obolibrary.org/obo/GO_0048519 gocheck_do_not_annotate GO:0048518 biolink:BiologicalProcess positive regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. hp.json positive regulation of physiological process|up-regulation of biological process|activation of biological process|upregulation of biological process|up regulation of biological process|stimulation of biological process http://purl.obolibrary.org/obo/GO_0048518 gocheck_do_not_annotate NCBITaxon:10239 biolink:OrganismalEntity Viruses hp.json http://purl.obolibrary.org/obo/NCBITaxon_10239 GO:0048523 biolink:BiologicalProcess negative regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. hp.json downregulation of cellular process|down regulation of cellular process|inhibition of cellular process|negative regulation of cellular physiological process|down-regulation of cellular process http://purl.obolibrary.org/obo/GO_0048523 gocheck_do_not_annotate GO:0048522 biolink:BiologicalProcess positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. hp.json up regulation of cellular process|stimulation of cellular process|activation of cellular process|up-regulation of cellular process|upregulation of cellular process|positive regulation of cellular physiological process http://purl.obolibrary.org/obo/GO_0048522 gocheck_do_not_annotate GO:0048521 biolink:BiologicalProcess negative regulation of behavior Any process that stops, prevents, or reduces the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. hp.json inhibition of behavior|down-regulation of behavior|downregulation of behavior|down regulation of behavior http://purl.obolibrary.org/obo/GO_0048521 GO:0048520 biolink:BiologicalProcess positive regulation of behavior Any process that activates or increases the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. hp.json upregulation of behavior|up regulation of behavior|stimulation of behavior|up-regulation of behavior|activation of behavior http://purl.obolibrary.org/obo/GO_0048520 PR:000001889 biolink:Protein CD14 molecule A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. PIRSF:PIRSF002017 hp.json monocyte differentiation antigen CD14|myeloid cell-specific leucine-rich glycoprotein|CD14 http://purl.obolibrary.org/obo/PR_000001889 HP:0008297 biolink:PhenotypicFeature Transient hyperphenylalaninemia A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). UMLS:C0268464|SNOMEDCT_US:28575006 hp.json http://purl.obolibrary.org/obo/HP_0008297 UBERON:0013581 biolink:AnatomicalEntity metapodium bone 1 A metapodium bone that is part of a digit 1 plus metapodial segment. hp.json metapodium I|metapodium 1 http://purl.obolibrary.org/obo/UBERON_0013581 UBERON:0013582 biolink:AnatomicalEntity metapodium bone 2 A metapodium bone that is part of a digit 2 plus metapodial segment. hp.json metapodium 2|metapodium II http://purl.obolibrary.org/obo/UBERON_0013582 HP:0200000 biolink:PhenotypicFeature Dysharmonic bone age Different levels of maturation of different bones. UMLS:C4020918 hp.json Dysharmonic skeletal maturation http://purl.obolibrary.org/obo/HP_0200000 UBERON:0013587 biolink:AnatomicalEntity fused metacarpal bones 3 and 4 An element formed from the fusion of metacarpal 3 and metacarpal 4. hp.json os metacarpale III et IV|metacarpal 3+4|fused metacarpal 3/4 http://purl.obolibrary.org/obo/UBERON_0013587 HP:0200003 biolink:PhenotypicFeature Splayed epiphyses Flaring (widening) of the epiphysis. UMLS:C4021906 hp.json Splayed end part of bone http://purl.obolibrary.org/obo/HP_0200003 UBERON:0013588 biolink:AnatomicalEntity fused metatarsal bones 3 and 4 An element formed from the fusion of metatarsal 3 and metatarsal 4. hp.json metatarsal 3+4|fused metatarsal 3/4|os metatarsale III et IV (Ru) http://purl.obolibrary.org/obo/UBERON_0013588 HP:0200001 biolink:PhenotypicFeature Dysharmonic accelerated bone age A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones. UMLS:C4021907 hp.json http://purl.obolibrary.org/obo/HP_0200001 HP:0200008 biolink:PhenotypicFeature Intestinal polyposis The presence of multiple polyps in the intestine. UMLS:C0744333|UMLS:C1257915|MSH:D044483 hp.json Growths in inner lining of intestine|Gastrointestinal polyps|Multiple intestinal polyps http://purl.obolibrary.org/obo/HP_0200008 GO:0048534 biolink:BiologicalProcess hematopoietic or lymphoid organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. hp.json haemopoietic or lymphoid organ development|hemopoietic or lymphoid organ development|haematopoietic or lymphoid organ development http://purl.obolibrary.org/obo/GO_0048534 UBERON:0013583 biolink:AnatomicalEntity metapodium bone 3 A metapodial bone that is associated with digit III. hp.json metapodium III|cannon bone|metapodium 3|metapodial bone III|3rd metapodium bone http://purl.obolibrary.org/obo/UBERON_0013583 HP:0200007 biolink:PhenotypicFeature Abnormal size of the palpebral fissures An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. UMLS:C4280286|UMLS:C4021904 hp.json Abnormal size of the eyes|Abnormal size of the opening between the eyelids http://purl.obolibrary.org/obo/HP_0200007 UBERON:0013584 biolink:AnatomicalEntity metapodium bone 4 A metapodium bone that is part of a digit 4 plus metapodial segment. hp.json metapodium 4|metapodium IV http://purl.obolibrary.org/obo/UBERON_0013584 UBERON:0013585 biolink:AnatomicalEntity metapodium bone 5 A metapodium bone that is part of a digit 5 plus metapodial segment. hp.json metapodium V|metapodium 5 http://purl.obolibrary.org/obo/UBERON_0013585 HP:0200006 biolink:PhenotypicFeature Slanting of the palpebral fissure UMLS:C2748932 hp.json Slanting of the opening between the eyelids http://purl.obolibrary.org/obo/HP_0200006 UBERON:0013586 biolink:AnatomicalEntity fused metapodial bones 3 and 4 An element formed from the fusion of metapodium 3 and metapodium 4 (i.e. either metatarsals 3 and 4 or metacarpals 3 and 4). hp.json metapodial 3+4|fused metapodials 3/4|os metapodiale III et IV http://purl.obolibrary.org/obo/UBERON_0013586 HP:0200005 biolink:PhenotypicFeature Abnormal shape of the palpebral fissure The presence of an abnormal shape of the palpebral fissure. UMLS:C4021905 hp.json Abnormal shape of the opening between the eyelids|Abnormal morphology of the palpebral fissure http://purl.obolibrary.org/obo/HP_0200005 hposlim_core PR:000001892 biolink:Protein CD33 molecule A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. IUPHARobj:2601 hp.json CD33|sialic acid-binding Ig-like lectin 3|SIGLEC3|siglec-3|myeloid cell surface antigen CD33|gp67 http://purl.obolibrary.org/obo/PR_000001892 PR:000001896 biolink:Protein natural killer cell receptor 2B4 A protein that is a translation product of the human CD244 gene or a 1:1 ortholog thereof. hp.json NAIL|NK cell type I receptor protein 2B4|SLAMF4|CD244|SLAM family member 4|NKR2B4|non-MHC restricted killing associated|signaling lymphocytic activation molecule 4|Nmrk|NK cell activation-inducing ligand|2B4 http://purl.obolibrary.org/obo/PR_000001896 GO:0048539 biolink:BiologicalProcess bone marrow development The process whose specific outcome is the progression of the bone marrow over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0048539 PR:000001898 biolink:Protein neprilysin A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. PIRSF:PIRSF501074|IUPHARobj:1611 hp.json atriopeptidase|EPN|NEP|skin fibroblast elastase|enkephalinase|MME|CALLA|SFE|neutral endopeptidase|CD10|neutral endopeptidase 24.11|common acute lymphocytic leukemia antigen http://purl.obolibrary.org/obo/PR_000001898 HP:0033240 biolink:PhenotypicFeature Elevated RV/TLC ratio An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation. hp.json Overinflation on pulmonary function test|Hyperinflation on pulmonary function test http://purl.obolibrary.org/obo/HP_0033240 HP:0033246 biolink:PhenotypicFeature Type II pneumocyte hypertrophy Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin. hp.json Hypertrophic alveolar type II pneumocytes|Hypertrophic alveolar type II cells http://purl.obolibrary.org/obo/HP_0033246 HP:0033245 biolink:PhenotypicFeature Abnormal alveolar type II pneumocyte morphology Any structural abnormality of alveolar type 2 (ATII) cells. hp.json Abnormal type II pneumocyte morphology|Abnormal alveolar epithelial type II cell morphology|Abnormal pulmonary type II cell morphology http://purl.obolibrary.org/obo/HP_0033245 HP:0033248 biolink:PhenotypicFeature Multiple pulmonary interstitial hyalinized nodules Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin. hp.json http://purl.obolibrary.org/obo/HP_0033248 GO:1903942 biolink:BiologicalProcess positive regulation of respiratory gaseous exchange Any process that activates or increases the frequency, rate or extent of respiratory gaseous exchange. hp.json up-regulation of respiratory gaseous exchange|activation of respiratory gaseous exchange|upregulation of respiratory gaseous exchange|up regulation of respiratory gaseous exchange http://purl.obolibrary.org/obo/GO_1903942 GO:1903941 biolink:BiologicalProcess negative regulation of respiratory gaseous exchange Any process that stops, prevents or reduces the frequency, rate or extent of respiratory gaseous exchange. hp.json downregulation of respiratory gaseous exchange|down regulation of respiratory gaseous exchange|inhibition of respiratory gaseous exchange|down-regulation of respiratory gaseous exchange http://purl.obolibrary.org/obo/GO_1903941 GO:0048546 biolink:BiologicalProcess digestive tract morphogenesis The process in which the anatomical structures of the digestive tract are generated and organized. The digestive tract is the anatomical structure through which food passes and is processed. hp.json intestinal morphogenesis|alimentary canal morphogenesis|gastrointestinal tract morphogenesis|gut morphogenesis|digestive tube morphogenesis http://purl.obolibrary.org/obo/GO_0048546 HP:0033247 biolink:PhenotypicFeature Pulmonary amyloidosis Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. hp.json http://purl.obolibrary.org/obo/HP_0033247 HP:0033242 biolink:PhenotypicFeature Horseshoe lung A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac. hp.json http://purl.obolibrary.org/obo/HP_0033242 GO:0048545 biolink:BiologicalProcess response to steroid hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. hp.json response to steroid hormone stimulus http://purl.obolibrary.org/obo/GO_0048545 HP:0033241 biolink:PhenotypicFeature Polyalveolar lobe An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold. hp.json http://purl.obolibrary.org/obo/HP_0033241 HP:0033244 biolink:PhenotypicFeature Glycogen accumulation in pulmonary interstitial cells Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells. hp.json http://purl.obolibrary.org/obo/HP_0033244 HP:0033243 biolink:PhenotypicFeature Pulmonary necrosis Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components. hp.json http://purl.obolibrary.org/obo/HP_0033243 GO:0061523 biolink:BiologicalProcess cilium disassembly A cellular process that results in the breakdown of a cilium. hp.json cilium resorption http://purl.obolibrary.org/obo/GO_0061523 HP:0033249 biolink:PhenotypicFeature Focal substantia nigra T2 hyperintensity Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging. hp.json Focal substantia nigra T2 hyperintense lesion http://purl.obolibrary.org/obo/HP_0033249 GO:0061525 biolink:BiologicalProcess hindgut development The process whose specific outcome is the progression of the hindgut over time, from its formation to the mature structure. The hindgut is part of the alimentary canal that lies posterior to the midgut. hp.json http://purl.obolibrary.org/obo/GO_0061525 HP:0033251 biolink:PhenotypicFeature Elevated residual volume Increase in the amount of air remaining in a person's lungs after full exhalation. hp.json Elevated RV http://purl.obolibrary.org/obo/HP_0033251 HP:0033250 biolink:PhenotypicFeature Nailfold capillary tortuosity An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. hp.json http://purl.obolibrary.org/obo/HP_0033250 GO:1903959 biolink:BiologicalProcess regulation of anion transmembrane transport Any process that modulates the frequency, rate or extent of anion transmembrane transport. hp.json http://purl.obolibrary.org/obo/GO_1903959 HP:0033257 biolink:PhenotypicFeature Delayed ability to walk with support A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage. hp.json Delayed ability to cruise http://purl.obolibrary.org/obo/HP_0033257 HP:0033256 biolink:PhenotypicFeature Pancolitis Inflammation of the entire colon. hp.json http://purl.obolibrary.org/obo/HP_0033256 HP:0033259 biolink:PhenotypicFeature Non-motor seizure A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. hp.json http://purl.obolibrary.org/obo/HP_0033259 HP:0033258 biolink:PhenotypicFeature Sudden unexpected death in epilepsy Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death. hp.json SUDEP http://purl.obolibrary.org/obo/HP_0033258 GO:1903951 biolink:BiologicalProcess positive regulation of AV node cell action potential Any process that activates or increases the frequency, rate or extent of AV node cell action potential. hp.json positive regulation of atrioventricular node cardiac muscle cell action potential|up-regulation of AV node cell action potential|upregulation of AV node cardiac muscle cell action potential|up regulation of atrioventricular node cardiac muscle cell action potential|up regulation of AV node cell action potential|activation of AV node cell action potential|up-regulation of atrioventricular node cardiac muscle cell action potential|positive regulation of AV node cardiac muscle cell action potential|activation of atrioventricular node cardiac muscle cell action potential|up regulation of AV node cardiac muscle cell action potential|upregulation of AV node cell action potential|up-regulation of AV node cardiac muscle cell action potential|activation of AV node cardiac muscle cell action potential|upregulation of atrioventricular node cardiac muscle cell action potential http://purl.obolibrary.org/obo/GO_1903951 HP:0033253 biolink:PhenotypicFeature Reduced circulating interferon gamma A reduction in the concentration of interferon gamma measured in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033253 GO:1903950 biolink:BiologicalProcess negative regulation of AV node cell action potential Any process that stops, prevents or reduces the frequency, rate or extent of AV node cell action potential. hp.json inhibition of AV node cell action potential|inhibition of AV node cardiac muscle cell action potential|downregulation of AV node cell action potential|negative regulation of AV node cardiac muscle cell action potential|down-regulation of AV node cardiac muscle cell action potential|downregulation of atrioventricular node cardiac muscle cell action potential|down regulation of atrioventricular node cardiac muscle cell action potential|down-regulation of AV node cell action potential|downregulation of AV node cardiac muscle cell action potential|inhibition of atrioventricular node cardiac muscle cell action potential|negative regulation of atrioventricular node cardiac muscle cell action potential|down-regulation of atrioventricular node cardiac muscle cell action potential|down regulation of AV node cell action potential|down regulation of AV node cardiac muscle cell action potential http://purl.obolibrary.org/obo/GO_1903950 HP:0033252 biolink:PhenotypicFeature Palmar hyperlinearity Exaggerated skin markings (dermatoglyphics) on the palms of the hand. hp.json http://purl.obolibrary.org/obo/HP_0033252 HP:0033255 biolink:PhenotypicFeature Congenital lobar overinflation A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes. hp.json Congenital lobar emphysema http://purl.obolibrary.org/obo/HP_0033255 HP:0033254 biolink:PhenotypicFeature Anorectal stricture Narrowing of the anorectum associated with inflammation or scar tissue. hp.json Stricture of the anorectum http://purl.obolibrary.org/obo/HP_0033254 GO:0061512 biolink:BiologicalProcess protein localization to cilium A process in which a protein is transported to, or maintained in, a location within a cilium. hp.json http://purl.obolibrary.org/obo/GO_0061512 GO:0061515 biolink:BiologicalProcess myeloid cell development The process whose specific outcome is the progression of a myeloid cell over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0061515 GO:0061519 biolink:BiologicalProcess macrophage homeostasis The process of regulating the proliferation and elimination of macrophage cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. hp.json http://purl.obolibrary.org/obo/GO_0061519 HP:0033260 biolink:PhenotypicFeature Livedo racemosa Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. hp.json http://purl.obolibrary.org/obo/HP_0033260 GO:0048562 biolink:BiologicalProcess embryonic organ morphogenesis Morphogenesis, during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. hp.json http://purl.obolibrary.org/obo/GO_0048562 HP:0033262 biolink:PhenotypicFeature Transphyseal fracture of the distal humerus A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis. hp.json Transphyseal distal humerus fracture http://purl.obolibrary.org/obo/HP_0033262 HP:0033261 biolink:PhenotypicFeature Renal artery aneurysm Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. hp.json http://purl.obolibrary.org/obo/HP_0033261 HP:0033268 biolink:PhenotypicFeature Deflation of the glomerular tuft Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. hp.json http://purl.obolibrary.org/obo/HP_0033268 HP:0033267 biolink:PhenotypicFeature Abnormal glomerular capillary lumen morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. hp.json http://purl.obolibrary.org/obo/HP_0033267 HP:0033269 biolink:PhenotypicFeature Glomerular capillary collapse Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). hp.json Collapse of glomerular capillary walls http://purl.obolibrary.org/obo/HP_0033269 GO:0048568 biolink:BiologicalProcess embryonic organ development Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. hp.json embryonic organogenesis http://purl.obolibrary.org/obo/GO_0048568 HP:0033264 biolink:PhenotypicFeature Enlarged platelet dense granules Increased size of platelet dense granules. hp.json http://purl.obolibrary.org/obo/HP_0033264 GO:1903961 biolink:BiologicalProcess positive regulation of anion transmembrane transport Any process that activates or increases the frequency, rate or extent of anion transmembrane transport. hp.json up-regulation of anion transmembrane transport|up regulation of anion transmembrane transport|activation of anion transmembrane transport|upregulation of anion transmembrane transport http://purl.obolibrary.org/obo/GO_1903961 HP:0033263 biolink:PhenotypicFeature Absent platelet dense granules Lack of platelet dense granules, a type of platelet organelles. hp.json Absent platelet dense bodies http://purl.obolibrary.org/obo/HP_0033263 GO:0048565 biolink:BiologicalProcess digestive tract development The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed. hp.json gut development|intestine development|intestinal development http://purl.obolibrary.org/obo/GO_0048565 HP:0033266 biolink:PhenotypicFeature Glomerular pseudocrescent Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. hp.json http://purl.obolibrary.org/obo/HP_0033266 GO:1903960 biolink:BiologicalProcess negative regulation of anion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of anion transmembrane transport. hp.json down-regulation of anion transmembrane transport|down regulation of anion transmembrane transport|inhibition of anion transmembrane transport|downregulation of anion transmembrane transport http://purl.obolibrary.org/obo/GO_1903960 HP:0033265 biolink:PhenotypicFeature Podocyte myelin figures Lamellated intracytoplasmic lipid inclusions within podocytes. hp.json Podocyte myelin inclusions http://purl.obolibrary.org/obo/HP_0033265 GO:0061548 biolink:BiologicalProcess ganglion development The process whose specific outcome is the progression of a ganglion over time, from its formation to the mature structure. hp.json gangliogenesis|ganglia development http://purl.obolibrary.org/obo/GO_0061548 GO:0061549 biolink:BiologicalProcess sympathetic ganglion development The process whose specific outcome is the progression of a sympathetic ganglion over time, from its formation to the mature structure. hp.json sympathetic ganglia development http://purl.obolibrary.org/obo/GO_0061549 HP:0033271 biolink:PhenotypicFeature Glomerular capillary microaneurysm Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. hp.json http://purl.obolibrary.org/obo/HP_0033271 HP:0033270 biolink:PhenotypicFeature Glomerular capillary congestion Global distention of glomerular capillaries with intraluminal intact red blood cells. hp.json Glomerular congestion http://purl.obolibrary.org/obo/HP_0033270 HP:0033273 biolink:PhenotypicFeature Loss of glomerular endothelial cell fenestration Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. hp.json http://purl.obolibrary.org/obo/HP_0033273 HP:0033272 biolink:PhenotypicFeature Abnormal glomerular endothelial cell morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. hp.json http://purl.obolibrary.org/obo/HP_0033272 GO:0048570 biolink:BiologicalProcess notochord morphogenesis The process in which the anatomical structures of the notochord are generated and organized. The notochord is a mesoderm-derived structure located ventral of the developing nerve cord. In vertebrates, the notochord serves as a core around which other mesodermal cells form the vertebrae. In the most primitive chordates, which lack vertebrae, the notochord persists as a substitute for a vertebral column. hp.json http://purl.obolibrary.org/obo/GO_0048570 GO:1901318 biolink:NamedThing negative regulation of flagellated sperm motility hp.json http://purl.obolibrary.org/obo/GO_1901318 GO:1901317 biolink:NamedThing regulation of flagellated sperm motility hp.json http://purl.obolibrary.org/obo/GO_1901317 GO:1903977 biolink:BiologicalProcess positive regulation of glial cell migration Any process that activates or increases the frequency, rate or extent of glial cell migration. hp.json up regulation of glial cell migration|activation of glia cell migration|positive regulation of glia cell migration|up-regulation of glial cell migration|upregulation of glia cell migration|activation of glial cell migration|upregulation of glial cell migration|up-regulation of glia cell migration|up regulation of glia cell migration http://purl.obolibrary.org/obo/GO_1903977 HP:0033279 biolink:PhenotypicFeature Enterocutaneous fistula An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin. hp.json http://purl.obolibrary.org/obo/HP_0033279 HP:0033278 biolink:PhenotypicFeature Reduced CD95-induced lymphocyte apoptosis Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells. hp.json http://purl.obolibrary.org/obo/HP_0033278 GO:1903976 biolink:BiologicalProcess negative regulation of glial cell migration Any process that stops, prevents or reduces the frequency, rate or extent of glial cell migration. hp.json downregulation of glial cell migration|negative regulation of glia cell migration|down-regulation of glia cell migration|down regulation of glia cell migration|down regulation of glial cell migration|inhibition of glial cell migration|down-regulation of glial cell migration|inhibition of glia cell migration|downregulation of glia cell migration http://purl.obolibrary.org/obo/GO_1903976 GO:1903975 biolink:BiologicalProcess regulation of glial cell migration Any process that modulates the frequency, rate or extent of glial cell migration. hp.json regulation of glia cell migration http://purl.obolibrary.org/obo/GO_1903975 HP:0033275 biolink:PhenotypicFeature Glomerular endothelial tubuloreticular inclusion Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. hp.json http://purl.obolibrary.org/obo/HP_0033275 HP:0033274 biolink:PhenotypicFeature Glomerular endotheliosis Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. hp.json http://purl.obolibrary.org/obo/HP_0033274 HP:0033277 biolink:PhenotypicFeature Glomerular fibrinoid necrosis Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. hp.json http://purl.obolibrary.org/obo/HP_0033277 HP:0033276 biolink:PhenotypicFeature obsolete Glomerular endocapillary hypercellularity hp.json http://purl.obolibrary.org/obo/HP_0033276 HP:0008480 biolink:PhenotypicFeature Cervical spondylosis The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. UMLS:C1384641|SNOMEDCT_US:387800004|MSH:D055009|SNOMEDCT_US:387801000|UMLS:C0263854 hp.json Neck arthritis|Cervical osteoarthritis|Cervical spine degeneration http://purl.obolibrary.org/obo/HP_0008480 HP:0008482 biolink:PhenotypicFeature Asymmetry of spinal facet joints UMLS:C4024669 hp.json http://purl.obolibrary.org/obo/HP_0008482 UBERON:0001668 biolink:AnatomicalEntity cerebellar vein A vein that drains the cerebellum. UMLS:C0226601|MA:0002093|FMA:51227|EMAPA:37139|NCIT:C53032 hp.json cerebellum vein|vein of cerebellum|vein of epencephalon-1|epencephalon-1 vein http://purl.obolibrary.org/obo/UBERON_0001668 UBERON:0001667 biolink:AnatomicalEntity tibialis posterior The Tibialis posterior is the most central of all the leg muscles, and is located in the posterior compartment of the leg. It is the key stabilizing muscle of the lower leg. [WP,unvetted]. MA:0002394|FMA:51099|EMAPA:36255|UMLS:C1711425|BTO:0000867|NCIT:C53078 hp.json musculus tibialis posterior|ibialis posticus|posterior tibialis|tibialis posterior muscle|tibialis caudalis http://purl.obolibrary.org/obo/UBERON_0001667 uberon_slim CHEBI:26666 biolink:ChemicalSubstance short-chain fatty acid An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. PMID:16633129|PMID:18203540|PMID:20148677|PMID:16870803 hp.json SCFA|SCFAs|short-chain fatty acids http://purl.obolibrary.org/obo/CHEBI_26666 3_STAR CHEBI:26667 biolink:ChemicalSubstance sialic acid Any of the N-acylneuraminic acids and their esters and other derivatives of the alcoholic hydroxy groups. Wikipedia:Sialic_acid hp.json acides sialique|Sialsaeuren|Sialsaeure|sialic acids|acide sialique http://purl.obolibrary.org/obo/CHEBI_26667 3_STAR HP:0033444 biolink:PhenotypicFeature Elevated circulating dodecanoylcarnitine concentration Increased concentration of dodecanoylcarnitine in the blood circulation. hp.json Elevated circulating O-dodecanoylcarnitine concentration|Elevated plasma dodecanoylcarnitine, C12:0 http://purl.obolibrary.org/obo/HP_0033444 HP:0033443 biolink:PhenotypicFeature Elevated circulating propionylcarnitine concentration Increased concentration of propionylcarnitine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033443 HP:0033446 biolink:PhenotypicFeature Elevated circulating butyrylcarnitine concentration Increased concentration of O-butyrylcarnitine in the blood circulation. hp.json Elevated circulating O-butyrylcarnitine concentration http://purl.obolibrary.org/obo/HP_0033446 HP:0033445 biolink:PhenotypicFeature Reduced circulating acylcarnitine concentration An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. hp.json http://purl.obolibrary.org/obo/HP_0033445 HP:0033440 biolink:PhenotypicFeature Elevated circulating octenoylcarnitine concentration Increased concentration of octenoylcarnitine in the blood circulation. hp.json Elevated circulating O-octenoylcarnitine concentration|Elevated plasma octenoylcarnitine, C8:1 http://purl.obolibrary.org/obo/HP_0033440 HP:0033442 biolink:PhenotypicFeature Elevated circulating glutarylcarnitine concentration Increased concentration of glutarylcarnitine in the blood circulation. hp.json Elevated circulating O-glutarylcarnitine concentration|Elevated plasma glutarylcarnitine, C5-DC http://purl.obolibrary.org/obo/HP_0033442 HP:0033441 biolink:PhenotypicFeature Elevated circulating hexanoylcarnitine concentration Increased concentration of hexanoylcarnitine in the blood circulation. hp.json Elevated circulating O-hexanoylcarnitine concentration|Elevated plasma hexanoylcarnitine, C6:0 http://purl.obolibrary.org/obo/HP_0033441 NCBITaxon:2759 biolink:OrganismalEntity Eukaryota PMID:30257078|PMID:23020233|GC_ID:1 hp.json Eucaryotae|eukaryotes|euk-|Eucarya|eukaryotes|Eukaryotae|Eukarya|eucaryotes http://purl.obolibrary.org/obo/NCBITaxon_2759 UBERON:0013646 biolink:AnatomicalEntity buccal nerve The buccal nerve (also called the long buccal nerve) is a nerve in the face. It is a branch of the mandibular nerve (which is itself a branch of the trigeminal nerve) and transmits sensory information from skin over the buccal membrane (in general, the cheek) and from the second and third molar teeth. BAMS:bucn|FMA:53066 hp.json buccinator branch|buccinator nerve|long buccal nerve|long buccal nerve http://purl.obolibrary.org/obo/UBERON_0013646 HP:0033448 biolink:PhenotypicFeature Increased mid-arm muscle circumference Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. hp.json http://purl.obolibrary.org/obo/HP_0033448 HP:0033447 biolink:PhenotypicFeature Elevated circulating isovalerylcarnitine concentration Increased concentration of O-isovalerylcarnitine in the blood circulation. hp.json Elevated circulating O-isovalerylcarnitine concentration http://purl.obolibrary.org/obo/HP_0033447 UBERON:0013647 biolink:AnatomicalEntity lateral pterygoid nerve A nerve that innervates the lateral pterygoid muscle. FMA:53107 hp.json nervus pterygoideus lateralis|external pterygoid nerve|branch of buccal nerve to lateral pterygoid|nerve to lateral pterygoid http://purl.obolibrary.org/obo/UBERON_0013647 UBERON:0013648 biolink:AnatomicalEntity masseteric artery The masseteric artery is small and passes laterally through the mandibular notch to the deep surface of the masseter muscle, which it supplies. It anastomoses with the masseteric branches of the external maxillary artery and with the transverse facial artery. FMA:49739|NCIT:C53052|UMLS:C0226149 hp.json arteria masseterica http://purl.obolibrary.org/obo/UBERON_0013648 human_reference_atlas HP:0033449 biolink:PhenotypicFeature Decreased mid-arm muscle circumference Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. hp.json http://purl.obolibrary.org/obo/HP_0033449 NCBITaxon:10090 biolink:OrganismalEntity Mus musculus GC_ID:1 hp.json mouse|house mouse http://purl.obolibrary.org/obo/NCBITaxon_10090 UBERON:0013649 biolink:AnatomicalEntity fused tarsal bones 1 and 2 A tarsal bone that is formed from the fusion of the 1st and 2nd tarsal bones. hp.json fused tarsals 1 and 2|os cuneiforme mediointermedium|os tarsale I et II|tarsals 1+2 http://purl.obolibrary.org/obo/UBERON_0013649 UBERON:0001675 biolink:AnatomicalEntity trigeminal ganglion The cranial ganglion that is associated with and extends fibers into the trigeminal nerve. BTO:0001231|EHDAA2:0002085|VHOG:0000694|MA:0001080|EFO:0000903|EMAPA:16797|FMA:52618|NCIT:C62642|MESH:D012668|AAO:0011107|MAT:0000511|UMLS:C0040995|EHDAA:2113|ZFA:0000295|BAMS:5Gn|SCTID:244449009|Wikipedia:Trigeminal_ganglion|TAO:0000295|XAO:0000428|GAID:725|XAO:0000427|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1402|BAMS:GV hp.json trigeminus ganglion|ganglion trigeminale|Gasserian ganglia|ganglion of trigeminal complex|ganglion of trigeminal complex|ganglion of trigeminal nerve|fifth ganglion|ganglion semilunare|ganglion trigeminale|5th ganglion|ganglion semilunare|semilunar ganglion|ganglion trigeminale|gV|Gasserian ganglion|fused trigeminal ganglion|Gasserian ganglion|trigeminal ganglia|Gasser's ganglion|trigeminal V ganglion|Gasserian ganglia http://purl.obolibrary.org/obo/UBERON_0001675 uberon_slim|vertebrate_core|pheno_slim|efo_slim HP:0008477 biolink:PhenotypicFeature Poorly ossified cervical vertebrae Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. UMLS:C4024670 hp.json http://purl.obolibrary.org/obo/HP_0008477 HP:0008476 biolink:PhenotypicFeature Irregular sclerotic endplates UMLS:C1868554 hp.json irregular, dense end plate http://purl.obolibrary.org/obo/HP_0008476 UBERON:0001674 biolink:AnatomicalEntity masseteric vein A plexiform vein accompanying the masseteric artery that empty into the pterygoid venous plexus. FMA:52519|UMLS:C0925179|MA:0002167|EMAPA:37168|NCIT:C53051 hp.json masseteric veins http://purl.obolibrary.org/obo/UBERON_0001674 UBERON:0001677 biolink:AnatomicalEntity sphenoid bone An unpaired bone situated at the base of the skull in front of the temporal bone and basilar part of the occipital bone. The sphenoid bone is one of the seven bones that articulate to form the orbit. Its shape somewhat resembles that of a butterfly or bat with its wings extended. NCIT:C12790|UMLS:C0037884|CALOHA:TS-2343|FMA:52736|GAID:230|OpenCyc:Mx4rwAU9XpwpEbGdrcN5Y29ycA|MA:0001472|EMAPA:18340|MESH:D013100 hp.json sphenoid|os sphenoidale|sphenoidal bone|sphenoid complex|os sphenoidum|os sphenoidale|os sphenoidale|butterfly bone http://purl.obolibrary.org/obo/UBERON_0001677 uberon_slim|pheno_slim HP:0008479 biolink:PhenotypicFeature Hypoplastic vertebral bodies UMLS:C1863353 hp.json Small vertebrae|Underdeveloped back bones|Small vertebral bodies http://purl.obolibrary.org/obo/HP_0008479 UBERON:0001676 biolink:AnatomicalEntity occipital bone The bone at the lower, posterior part of the skull. GAID:227|NCIT:C12757|EMAPA:25112|MA:0001468|SCTID:181796003|FMA:52735|OpenCyc:Mx4rwQtsiZwpEbGdrcN5Y29ycA|UMLS:C0028784|Wikipedia:Occipital_bone|MESH:D009777 hp.json occipital squama|os occipitale|occipital complex|os occipitale|occipital complex http://purl.obolibrary.org/obo/UBERON_0001676 uberon_slim|pheno_slim HP:0008478 biolink:PhenotypicFeature Scheuermann-like vertebral changes UMLS:C1844926 hp.json http://purl.obolibrary.org/obo/HP_0008478 HP:0008473 biolink:PhenotypicFeature Narrow anterio-posterior vertebral body diameter An abnormal reduction of the anterioposterior diameter of the vertebral body. UMLS:C4021540 hp.json Reduced sagittal diameter of vertebrae|Reduced anterior-posterior diameter of vertebral bodies http://purl.obolibrary.org/obo/HP_0008473 HP:0008472 biolink:PhenotypicFeature Prominent protruding coccyx UMLS:C4280412|UMLS:C1850044 hp.json Prominent protruding tailbone|Large tailbone http://purl.obolibrary.org/obo/HP_0008472 HP:0008475 biolink:PhenotypicFeature Hypoplastic sacral vertebrae UMLS:C2751479 hp.json http://purl.obolibrary.org/obo/HP_0008475 HP:0008491 biolink:PhenotypicFeature Premature anterior fontanel closure Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. UMLS:C4024668 hp.json http://purl.obolibrary.org/obo/HP_0008491 CHEBI:75603 biolink:ChemicalSubstance EC 6.* (ligase) inhibitor Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. Wikipedia:Ligase hp.json ligase inhibitor|EC 6.*.*.* inhibitor|EC 6.* (ligase) inhibitors|EC 6.*.*.* inhibitors|ligase inhibitors|EC 6.* inhibitor|EC 6.* inhibitors http://purl.obolibrary.org/obo/CHEBI_75603 3_STAR HP:0008490 biolink:PhenotypicFeature Sacral segmentation defect UMLS:C1850329 hp.json http://purl.obolibrary.org/obo/HP_0008490 CHEBI:75600 biolink:ChemicalSubstance EC 6.3.* (C-N bond-forming ligase) inhibitor A ligase inhibitor that interferes with the action of a C-N bond-forming ligase (EC 6.3.*.*). hp.json C-N bond-forming ligase (EC 6.3.*) inhibitors|EC 6.3.* inhibitors|C-N bond-forming ligase inhibitor|C-N bond-forming ligase inhibitors|EC 6.3.* inhibitor|C-N bond-forming ligase (EC 6.3.*) inhibitor|EC 6.3.* (C-N bond-forming ligase) inhibitorS|EC 6.3.*.* inhibitor|C--N bond-forming ligase inhibitor|C--N bond-forming ligase inhibitors|EC 6.3.*.* inhibitors http://purl.obolibrary.org/obo/CHEBI_75600 3_STAR CHEBI:75604 biolink:ChemicalSubstance EC 6.4.* (C-C bond-forming ligase) inhibitor A ligase inhibitor that interferes with the action of a C-C bond-forming ligase (EC 6.4.*.*). hp.json C-C bond-forming ligase inhibitor|EC 6.4.*.* inhibitors|C-C bond-forming ligase (EC 6.4.*) inhibitor|C--C bond-forming ligase inhibitors|EC 6.4.* inhibitors|EC 6.4.* (C-C bond-forming ligase) inhibitorS|EC 6.4.* inhibitor|C--C bond-forming ligase inhibitor|C-C bond-forming ligase (EC 6.4.*) inhibitorS|EC 6.4.*.* inhibitor|C-C bond-forming ligase inhibitors http://purl.obolibrary.org/obo/CHEBI_75604 3_STAR HP:0033455 biolink:PhenotypicFeature Elevated urinary dicarboxylic acid level Increased amount of a dicarboxylic acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033455 HP:0033454 biolink:PhenotypicFeature Tube feeding Feeding problem necessitating food and nutrient delivery via a tube. hp.json http://purl.obolibrary.org/obo/HP_0033454 HP:0033457 biolink:PhenotypicFeature Elevated urine 3-methyl-2-oxovaleric acid level Increased amount of 3-methyl-2-oxovaleric acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033457 HP:0033456 biolink:PhenotypicFeature Elevated urine keto acid level Increased amount of a keta acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033456 HP:0033451 biolink:PhenotypicFeature Increased circulating prealbumin concentration An elevation above the normal concentration of prealbumin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033451 HP:0033450 biolink:PhenotypicFeature Abnormal circulating prealbumin concentration Any deviation from normal concentration of albumin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033450 HP:0033453 biolink:PhenotypicFeature Limited neck extension Reduced abilty to move the head back towards the ceiling so that one is looking upwards. hp.json http://purl.obolibrary.org/obo/HP_0033453 HP:0033452 biolink:PhenotypicFeature Decreased circulating prealbumin concentration A reduction from the normal concentration of prealbumin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033452 HP:0033459 biolink:PhenotypicFeature Decreased circulating apolipoprotein concentration Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein). hp.json Decreased apolipoprotein level http://purl.obolibrary.org/obo/HP_0033459 HP:0033458 biolink:PhenotypicFeature Elevated urine 4-methyl-2-oxopentanoic acid level Increased amount of 4-methyl-2-oxopentanoic acid in the urine. hp.json Increased urine alpha-ketoisocaproic acid level http://purl.obolibrary.org/obo/HP_0033458 UBERON:0013636 biolink:AnatomicalEntity epithelium of intestinal villus An epithelium that is part of a intestinal villus. FMA:63587 hp.json villous epithelium|intestinal villus epithelium|villus epithelium http://purl.obolibrary.org/obo/UBERON_0013636 UBERON:0013637 biolink:AnatomicalEntity prostate gland lateral lobe The prostate gland lobe that is located on the lateral side of the organ. EMAPA:29822|NCIT:C13092|FMA:19577|MA:0003125 hp.json lateral ventral lobe of prostate gland|lateral prostate|lateral lobe of prostate gland|lateral lobe of prostate http://purl.obolibrary.org/obo/UBERON_0013637 HP:0008488 biolink:PhenotypicFeature Anterior rounding of vertebral bodies UMLS:C1850043 hp.json http://purl.obolibrary.org/obo/HP_0008488 UBERON:0001663 biolink:AnatomicalEntity cerebral vein The cerebral veins are divisible into external and internal groups according to the outer surfaces or the inner parts of the hemispheres they drain into. The external veins are the superior cerebral veins, inferior cerebral veins, and middle cerebral vein. [WP,unvetted]. Wikipedia:Cerebral_veins|XAO:0004160|EMAPA:37140|GAID:530|NCIT:C53037|SCTID:244392000|UMLS:C0007797|FMA:50981|MESH:D002550|MA:0002096 hp.json venae cerebri|venae cerebri|venae encephali|venae encephali http://purl.obolibrary.org/obo/UBERON_0001663 pheno_slim HP:0008489 biolink:PhenotypicFeature Spondylolisthesis at L5-S1 Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1). UMLS:C3275799 hp.json Spondylolysis and spondylolisthesis of l5 http://purl.obolibrary.org/obo/HP_0008489 UBERON:0001665 biolink:AnatomicalEntity triceps surae The triceps surae is a pair of muscles located at the calf - the gastrocnemius and the soleus. These muscles both insert into the calcaneus, the bone of the heel of the human foot, and form the major part of the muscle of the back part of the lower leg, commonly known as the calf muscle. The triceps surae is connected to the foot through the Achilles tendon, and has 3 heads deriving from the 2 major masses of muscle. The superficial portion (the gastrocnemius) gives off 2 heads attaching to the base of the femur directly above the knee. The deep (profundis) mass of muscle (the soleus) forms the remaining head which attaches to the superior posterior area of the tibia. The triceps surae is innervated by the tibial nerve, specifically, nerve roots L5-S2. [WP,unvetted]. NCIT:C53181|FMA:51062|EMAPA:36267|MA:0002400|UMLS:C0224458 hp.json sural triceps|gastrosoleus complex|gastrosoleus|calf muscle|musculus triceps surae http://purl.obolibrary.org/obo/UBERON_0001665 uberon_slim HP:0008484 biolink:PhenotypicFeature Thoracolumbar interpediculate narrowness A reduction of the distance between thoracolumbar vertebral pedicles. UMLS:C1864364 hp.json Narrow thoracolumbar interpediculate distance http://purl.obolibrary.org/obo/HP_0008484 HP:0008483 biolink:PhenotypicFeature Cervical vertebral bodies with decreased anteroposterior diameter UMLS:C1847393 hp.json http://purl.obolibrary.org/obo/HP_0008483 HP:0008486 biolink:PhenotypicFeature Lumbar interpedicular narrowing Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. UMLS:C1849079 hp.json Decreasing lumbar vertebrae interpediculate distance http://purl.obolibrary.org/obo/HP_0008486 UBERON:0001649 biolink:AnatomicalEntity glossopharyngeal nerve Cranial nerve that branches into the ramus communicans (to the skin), the pretrematic (to the walls of the pharynx and mouth, viscero-sensory fibers), and the larval post-trematic branch (lost in the adult). Wikipedia:Glossopharyngeal_nerve|BAMS:IXn|BTO:0004979|BIRNLEX:899|BAMS:9n|GAID:827|MESH:D005930|VHOG:0000701|AAO:0010474|EHDAA2:0000709|FMA:50870|XAO:0003096|OpenCyc:Mx4rwIr5X5wpEbGdrcN5Y29ycA|MA:0001093|SCTID:362465002|ZFA:0000668|MBA:808|UMLS:C0017679|UMLS:C0017679|TAO:0000668|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=701|HBA:9334|EMAPA:17268|NCIT:C12723|EHDAA:3733|UMLS:C1305752 hp.json CN-IX|nervus glossopharyngeus|ninth cranial nerve|nervus glossopharyngeus|glossopharyngeal nerve tree|cranial nerve IX|nerve IX|nervus glossopharyngeus|9n|nervus glossopharyngeus [ix]|glossopharyngeal IX|glossopharyngeal nerve [IX]|glossopharyngeal IX nerve http://purl.obolibrary.org/obo/UBERON_0001649 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core HP:0033460 biolink:PhenotypicFeature Increased circulating apolipoprotein circulation Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein). hp.json http://purl.obolibrary.org/obo/HP_0033460 HP:0008460 biolink:PhenotypicFeature Hypoplastic spinal processes UMLS:C4024674 hp.json Underdeveloped spinal processes http://purl.obolibrary.org/obo/HP_0008460 UBERON:0001646 biolink:AnatomicalEntity abducens nerve Cranial nerve that runs to the eye muscles. BIRNLEX:876|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=550|MBA:710|MA:0001087|OpenCyc:Mx4rvjl41ZwpEbGdrcN5Y29ycA|BAMS:VIn|MESH:D000010|GAID:824|UMLS:C0000741|VHOG:0000697|AAO:0010471|XAO:0003093|UMLS:C0000741|BM:Pons-VIN|EMAPA:18216|HBA:9325|FMA:50867|ZFA:0000310|EHDAA2:0000103|NCIT:C12665|TAO:0000310 hp.json abducent nerve [VI]|abducens nerve tree|nervus abducens [VI]|6n|sixth cranial nerve|lateral rectus nerve|abducens VI nerve|nerve VI|nervus abducens|abducents VI nerve|nervus abducens|CN-VI|abducent nerve|abducens nerve/root|cranial nerve VI|abducens nerve [VI] http://purl.obolibrary.org/obo/UBERON_0001646 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0001645 biolink:AnatomicalEntity trigeminal nerve Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw). EFO:0001402|BM:VN|GAID:726|UMLS:C0040996|MESH:D014276|NCIT:C12806|AAO:0010470|XAO:0003092|Wikipedia:Trigeminal_nerve|EHDAA:3738|EHDAA2:0002084|OpenCyc:Mx4rwMF8CJwpEbGdrcN5Y29ycA|UMLS:C0040996|ZFA:0000697|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=549|EMAPA:17576|BAMS:5n|SCTID:362459002|HBA:9322|BAMS:Vn|BIRNLEX:869|FMA:50866|BTO:0001072|BAMS:nV|MBA:901|TAO:0000697|MFMO:0000093|VHOG:0000704|MA:0001100 hp.json trigeminal V|nervus trigeminus [v]|fifth cranial nerve|trigeminus|trigeminal v nerve|5n|cranial nerve V|nervus trigeminus|nerve V|trigeminal nerve [V]|trigeminal nerve tree|CN-V|nervus trigeminus|nervus trigeminus http://purl.obolibrary.org/obo/UBERON_0001645 pheno_slim|human_reference_atlas|efo_slim|uberon_slim|vertebrate_core UBERON:0001648 biolink:AnatomicalEntity vestibulocochlear nerve Cranial nerve that transmits sound and equilibrium (balance) information from the inner ear to the brain. OpenCyc:Mx4rvVjMFZwpEbGdrcN5Y29ycA|GAID:839|AAO:0010473|BAMS:VIIIn|XAO:0003095|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=553|UMLS:C0001162|EMAPA:17801|MA:0001109|UMLS:C0001162|VHOG:0000695|EHDAA2:0002194|BIRNLEX:890|FMA:50869|ZFA:0000247|UMLS:C1278835|TAO:0000247|NCIT:C12996|BAMS:nVIII|MESH:D000159|BAMS:8n|BTO:0003490|MBA:933|HBA:9331 hp.json nervus octavus|eighth cranial nerve|vestibulocochlear nerve [VIII]|nervus vestibulocochlearis [viii]|acoustic VIII nerve|vestibulocochlear nerve tree|acoustic nerve (Crosby)|VIIIth cranial nerve|nervus statoacusticus|octaval nerve|CN-VIII|statoacoustic nerve|vestibulocochlear VIII nerve|cranial nerve VIII|cochleovestibular nerve|nervus vestibulocochlearis|acoustic nerve|stato-acoustic nerve|8n|cochlear-vestibular nerve|VIII nerve http://purl.obolibrary.org/obo/UBERON_0001648 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0001647 biolink:AnatomicalEntity facial nerve Cranial nerve that branches into the supraorbital (supplying the skin of the eye region and the lateral line organs here), the palatine (to the roof of the buccal cavity), and the hyomandibular (dividing into the jugular and mental branches). UMLS:C0015462|GAID:719|OpenCyc:Mx4rvthgEpwpEbGdrcN5Y29ycA|MBA:798|UMLS:C0015462|AAO:0010472|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=551|XAO:0003094|EHDAA:3729|HBA:9328|MESH:D005154|BM:Pons-VIIN|MA:0001091|NCIT:C12714|BIRNLEX:827|FMA:50868|ZFA:0000664|EMAPA:17796|VHOG:0000706|BAMS:nVII|BAMS:VIIn|BAMS:Viin|BAMS:7n|TAO:0000664|EHDAA2:0000489 hp.json nerve VII|facial nerve tree|nervus facialis [vii]|facial VII|face nerve|facial nerve [VII]|nervus facialis|cranial nerve VII|seventh cranial nerve|nerve of face|nervus facialis|7n|CN-VII|facial nerve or its root|branchiomeric cranial nerve|facial nerve/root|facial VII nerve http://purl.obolibrary.org/obo/UBERON_0001647 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0013631 biolink:AnatomicalEntity sesamoid element Ossicle that develops within bands of dense, regular connective tissue (e.g., tendons and ligaments). Sesamoids are generally located proximate to a bony prominence, over which the dense regular connective tissue wraps, and/or a joint or articulation. VSAO:0000137 hp.json sesamoid http://purl.obolibrary.org/obo/UBERON_0013631 HP:0033466 biolink:PhenotypicFeature Weak grip Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand. hp.json http://purl.obolibrary.org/obo/HP_0033466 UBERON:0013632 biolink:AnatomicalEntity sesamoid cartilage A sesamoid element that is composed primarily of cartilage tissue. FMA:55379 hp.json sesamoid cartilage of cricopharyngeal ligament|cartilago sesamoidea http://purl.obolibrary.org/obo/UBERON_0013632 HP:0033465 biolink:PhenotypicFeature Elevated circulating tetradecanoylcarnitine concentration Elevated circulating tetradecanoyl concentration. hp.json Elevated circulating C14 carnitine concentration|Elevated circulating myristoylcarnitine concentration http://purl.obolibrary.org/obo/HP_0033465 HP:0033468 biolink:PhenotypicFeature 10-minute APGAR score of 0 hp.json http://purl.obolibrary.org/obo/HP_0033468 HP:0033467 biolink:PhenotypicFeature Low 10-minute APGAR score A normal APGAR score can be coded as 'not Low 10-minute APGAR score'. hp.json http://purl.obolibrary.org/obo/HP_0033467 HP:0033462 biolink:PhenotypicFeature Elevated circulating oleylcarnitine concentration Increased concentration of oleylcarnitine in the blood circulation. hp.json Elevated plasma oleylcarnitine, C18:1 http://purl.obolibrary.org/obo/HP_0033462 HP:0033461 biolink:PhenotypicFeature Elevated circulating 3-hydroxylinoleylcarnitine concentration Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation. hp.json Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH http://purl.obolibrary.org/obo/HP_0033461 HP:0033464 biolink:PhenotypicFeature Elevated circulating 3-hydroxypalmitoleylcarnitine concentration Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation. hp.json Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH|Elevated circulating 3-OH-palmitoleylcarnitine concentration http://purl.obolibrary.org/obo/HP_0033464 CL:1001568 biolink:Cell pulmonary artery endothelial cell BTO:0001141 hp.json PAEC cell http://purl.obolibrary.org/obo/CL_1001568 UBERON:0013630 biolink:AnatomicalEntity short bone Short bones are designated as those bones that are as wide as they are long. Their primary function is to provide support and stability with little to no movement. They are one of five types of bones: long, short, flat, irregular and sesamoid. Examples of these bones include the tarsals in the foot and the carpals in the hand. NCIT:C33545|FMA:7475 hp.json http://purl.obolibrary.org/obo/UBERON_0013630 CL:1001567 biolink:Cell lung endothelial cell hp.json endothelial cell of lung|pulmonary vessel endothelial cell http://purl.obolibrary.org/obo/CL_1001567 HP:0033463 biolink:PhenotypicFeature obsolete Elevated circulating palmitoleylcarnitine concentration hp.json http://purl.obolibrary.org/obo/HP_0033463 HP:0008459 biolink:PhenotypicFeature Cervical vertebral agenesis Agenesis of one or more vertebrae of the cervical vertebral column. SNOMEDCT_US:91880006|MSH:C562952|UMLS:C0432160 hp.json Missing cervical vertebrae|Cervical vertebrae agenesis http://purl.obolibrary.org/obo/HP_0008459 HP:0033469 biolink:PhenotypicFeature 10-minute APGAR score of 1 hp.json http://purl.obolibrary.org/obo/HP_0033469 HP:0008458 biolink:PhenotypicFeature Progressive congenital scoliosis A progressive form of scoliosis with congenital onset. UMLS:C1857025 hp.json http://purl.obolibrary.org/obo/HP_0008458 UBERON:0001653 biolink:AnatomicalEntity facial vein The anterior facial vein (facial vein) commences at the side of the root of the nose, and is a direct continuation of the angular vein where it also receives a small nasal branch. It lies behind the facial artery and follows a less tortuous course. It receives blood from the external palatine vein before it either joins the anterior branch of the retromandibular vein to form the common facial vein, or drains directly into the internal jugular vein. [WP,unvetted]. SCTID:181374006|Wikipedia:Facial_vein|UMLS:C0226532|NCIT:C32579|OpenCyc:Mx4rvziz3JwpEbGdrcN5Y29ycA|MA:0002115|AAO:0010513|FMA:50874|EMAPA:19220 hp.json face vein|anterior facial vein|vena facialis anterior|anterior facial vein|vena facialis anterior|vein of face http://purl.obolibrary.org/obo/UBERON_0001653 human_reference_atlas|uberon_slim HP:0008455 biolink:PhenotypicFeature Dysplastic sacrum A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally. UMLS:C1851305 hp.json Sacral dysgenesis|Partial sacral agenesis|Absence of some of the sacral and coccygeal bones http://purl.obolibrary.org/obo/HP_0008455 UBERON:0001652 biolink:AnatomicalEntity left pulmonary artery The pulmonary artery that supplies the left lung. galen:LeftPulmonaryArtery|UMLS:C0923925|EMAPA:37097|NCIT:C32971|Wikipedia:Left_pulmonary_artery|FMA:50873|SCTID:244234004|MA:0002032 hp.json arteria pulmonalis sinistra|left pulmonary arterial tree|left main pulmonary artery|arteria pulmonalis sinistra http://purl.obolibrary.org/obo/UBERON_0001652 human_reference_atlas|uberon_slim HP:0008454 biolink:PhenotypicFeature Lumbar kyphosis Over curvature of the lumbar region. UMLS:C1844818 hp.json Rounded lower back|Lumbar gibbus deformity http://purl.obolibrary.org/obo/HP_0008454 HP:0008457 biolink:PhenotypicFeature Caudal interpedicular narrowing Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. UMLS:C1863734 hp.json Caudal narrowing of interpedicular distances http://purl.obolibrary.org/obo/HP_0008457 HP:0008456 biolink:PhenotypicFeature C2-C3 subluxation A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. UMLS:C2678323 hp.json http://purl.obolibrary.org/obo/HP_0008456 HP:0008451 biolink:PhenotypicFeature Posterior vertebral hypoplasia UMLS:C1856780 hp.json http://purl.obolibrary.org/obo/HP_0008451 HP:0008450 biolink:PhenotypicFeature Narrow vertebral interpedicular distance A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. UMLS:C1832598 hp.json Narrow interpedicular space|Interpedicular narrowing|Narrowing of interpediculate distances|Narrow interpediculate distances http://purl.obolibrary.org/obo/HP_0008450 hposlim_core UBERON:0001651 biolink:AnatomicalEntity right pulmonary artery The pulmonary artery that supplies the right lung. galen:RightPulmonaryArtery|UMLS:C0923924|MA:0002500|NCIT:C33489|Wikipedia:Right_pulmonary_artery|FMA:50872|EMAPA:37378|SCTID:244235003 hp.json arteria pulmonalis dextra|arteria pulmonalis dextra|right main pulmonary artery|right pulmonary arterial tree http://purl.obolibrary.org/obo/UBERON_0001651 human_reference_atlas|uberon_slim HP:0008453 biolink:PhenotypicFeature Congenital kyphoscoliosis SNOMEDCT_US:405772002|UMLS:C0345392 hp.json http://purl.obolibrary.org/obo/HP_0008453 UBERON:0001650 biolink:AnatomicalEntity hypoglossal nerve Cranial nerve that innervates the muscles of the tongue. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=704|MA:0001094|EHDAA:2859|MESH:D007002|BTO:0003386|VHOG:0000693|EMAPA:17269|BAMS:nXII|XAO:0004215|SCTID:362471008|EHDAA2:0000798|Wikipedia:Hypoglossal_nerve|HBA:9343|MBA:813|UMLS:C0020614|NCIT:C12732|BAMS:XIIn|OpenCyc:Mx4rv9eWA5wpEbGdrcN5Y29ycA|AAO:0010477|GAID:828|UMLS:C0020614|BIRNLEX:820|BAMS:12n|FMA:50871 hp.json nervus hypoglossus|cranial nerve XII|nervus hypoglossus|nervi hypoglossalis|CN-XII|twelfth cranial nerve|nervus hypoglossus [xii]|hypoglossal XII|nerve XII|hypoglossal nerve tree|hypoglossal nerve [XII]|12n|hypoglossal XII nerve|hypoglossal nerve/ root http://purl.obolibrary.org/obo/UBERON_0001650 human_reference_atlas|uberon_slim|pheno_slim HP:0008452 biolink:PhenotypicFeature Wafer-thin platyspondyly UMLS:C1865124 hp.json http://purl.obolibrary.org/obo/HP_0008452 UBERON:0001639 biolink:AnatomicalEntity hepatic portal vein A portal vein that transports nutrients from the digestive tract to the liver[Kardong]. ZFA:0005090|AAO:0010214|TAO:0005090|MA:0002132|VHOG:0000642|FMA:50735 hp.json portal vein|primary hepatic portal vein|HPV|vena portae hepatis|portal vein of liver|primary hepatic portal veins|hepatic portal tree|liver portal vein http://purl.obolibrary.org/obo/UBERON_0001639 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core NCBITaxon:10088 biolink:OrganismalEntity Mus GC_ID:1 hp.json mice|mouse|Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 UBERON:0001638 biolink:AnatomicalEntity vein Any of the tubular branching vessels that carry blood from the capillaries toward the heart. SCTID:181367001|OpenCyc:Mx4rvVjkWpwpEbGdrcN5Y29ycA|AEO:0000209|MA:0000067|UMLS:C0042449|MAT:0000037|AAO:0010212|GAID:492|Wikipedia:Vein|MIAA:0000037|BTO:0000234|CALOHA:TS-1108|VHOG:0001743|EHDAA2:0003254|ZFA:0000082|EV:0100031|galen:Vein|TAO:0000082|MESH:D014680|NCIT:C12814|XAO:0000115|EFO:0000816|EMAPA:35906|FMA:50723 hp.json venous vessel|vena|vascular element|venae|vena|venous tree organ part|venous subtree http://purl.obolibrary.org/obo/UBERON_0001638 pheno_slim|efo_slim|uberon_slim|vertebrate_core HP:0033471 biolink:PhenotypicFeature 10-minute APGAR score of 3 hp.json http://purl.obolibrary.org/obo/HP_0033471 HP:0008470 biolink:PhenotypicFeature Lower thoracic interpediculate narrowness A reduction of the distance between the lower thoracic vertebral pedicles. UMLS:C1854940 hp.json Narrowness of interpediculate distances in lower thoracic regions http://purl.obolibrary.org/obo/HP_0008470 HP:0033470 biolink:PhenotypicFeature 10-minute APGAR score of 2 hp.json http://purl.obolibrary.org/obo/HP_0033470 UBERON:0001635 biolink:AnatomicalEntity superior cerebellar artery The superior cerebellar artery (SCA) arises near the termination of the basilar artery. It passes lateralward, immediately below the oculomotor nerve, which separates it from the posterior cerebral artery, winds around the cerebral peduncle, close to the trochlear nerve, and, arriving at the upper surface of the cerebellum, divides into branches which ramify in the pia mater and anastomose with those of the inferior cerebellar arteries. Several branches are given to the pineal body, the anterior medullary velum, and the tela chorioidea of the third ventricle. [WP,unvetted]. FMA:50573|EHDAA2:0000681|EMAPA:19309|MA:0001934|UMLS:C0149575|NCIT:C33669 hp.json arteria superior cerebelli http://purl.obolibrary.org/obo/UBERON_0001635 human_reference_atlas|uberon_slim UBERON:0001637 biolink:AnatomicalEntity artery An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. Wikipedia:Artery|AEO:0000208|FMA:50720|MESH:D001158|EV:0100026|AAO:0010211|galen:Artery|MA:0000064|EHDAA2:0000143|MAT:0000034|EHDAA2:0003253|NCIT:C12372|BTO:0000573|MIAA:0000034|EMAPA:35147|GAID:468|XAO:0000114|ZFA:0000005|SCTID:362877004|OpenCyc:Mx4rvVjknZwpEbGdrcN5Y29ycA|EFO:0000814|UMLS:C0003842|CALOHA:TS-0054|TAO:0000005|VHOG:0001251 hp.json arterial vessel|arterial tree organ part|arterial system|arteries|arterial subtree http://purl.obolibrary.org/obo/UBERON_0001637 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0013620 biolink:AnatomicalEntity lower primary molar tooth A primary molar tooth that is part of a lower jaw region. FMA:84213 hp.json primary lower molar tooth|lower deciduous molar tooth http://purl.obolibrary.org/obo/UBERON_0013620 HP:0033477 biolink:PhenotypicFeature Abnormal circulating lipoprotein lipase concentration A deviation from the normal concentration of lipoprotein lipase in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033477 UBERON:0013621 biolink:AnatomicalEntity lower secondary molar tooth A secondary molar tooth that is part of a lower jaw region. FMA:55721 hp.json lower permanent molar|lower permanent molar tooth|mandibular secondary molar tooth http://purl.obolibrary.org/obo/UBERON_0013621 HP:0033476 biolink:PhenotypicFeature Extractable nuclear antigen positivity The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution. hp.json http://purl.obolibrary.org/obo/HP_0033476 CHEBI:26650 biolink:ChemicalSubstance serine family amino acid An L-alpha-amino acid which is biosynthesised from 3-phosphoglycerate (i.e. serine, glycine, cysteine and homocysteine). A closed class. PMID:20709681 hp.json serine family amino acids|3-phosphoglycerate family amino acids|3-phosphoglycerate family amino acid http://purl.obolibrary.org/obo/CHEBI_26650 3_STAR HP:0033479 biolink:PhenotypicFeature Abnormal circulating bilirubin concentration hp.json http://purl.obolibrary.org/obo/HP_0033479 HP:0033478 biolink:PhenotypicFeature Increased circulating lipoprotein lipase concentration Increased concentration of lipoprotein lipase in the blood circulation. hp.json Elevated lipoprotein lipase level http://purl.obolibrary.org/obo/HP_0033478 HP:0033473 biolink:PhenotypicFeature 10-minute APGAR score of 5 hp.json http://purl.obolibrary.org/obo/HP_0033473 HP:0033472 biolink:PhenotypicFeature 10-minute APGAR score of 4 hp.json http://purl.obolibrary.org/obo/HP_0033472 HP:0033475 biolink:PhenotypicFeature Limited shoulder abduction Decreased ability to move the arm away from the midline of the body. hp.json http://purl.obolibrary.org/obo/HP_0033475 HP:0033474 biolink:PhenotypicFeature 10-minute APGAR score of 6 hp.json http://purl.obolibrary.org/obo/HP_0033474 UBERON:0013617 biolink:AnatomicalEntity upper primary molar tooth A primary molar tooth that is part of a upper jaw region. FMA:84210 hp.json upper deciduous molar tooth|primary upper molar tooth|upper primary molar tooth|upper deciduous molar http://purl.obolibrary.org/obo/UBERON_0013617 UBERON:0013618 biolink:AnatomicalEntity secondary molar tooth FMA:84207 hp.json secondary molar tooth|permanent molar tooth http://purl.obolibrary.org/obo/UBERON_0013618 pheno_slim UBERON:0013619 biolink:AnatomicalEntity upper secondary molar tooth A secondary molar tooth that is part of a upper jaw region. FMA:55720 hp.json upper permanent molar tooth|maxillary secondary molar tooth|upper secondary molar tooth http://purl.obolibrary.org/obo/UBERON_0013619 CHEBI:38632 biolink:ChemicalSubstance membrane transport modulator Any agent that affects the transport of molecular entities across a biological membrane. hp.json membrane transport modulators http://purl.obolibrary.org/obo/CHEBI_38632 3_STAR HP:0008469 biolink:PhenotypicFeature Cervical vertebral dysplasia Dysplasia of the cervical vertebral column. UMLS:C1861693|MSH:C566140 hp.json http://purl.obolibrary.org/obo/HP_0008469 UBERON:0013616 biolink:AnatomicalEntity primary molar tooth FMA:84206 hp.json deciduous molar tooth|primary molar tooth|temporary molar tooth http://purl.obolibrary.org/obo/UBERON_0013616 pheno_slim UBERON:0001641 biolink:AnatomicalEntity transverse sinus One of the dural venous sinuses and drains the superior sagittal sinus the occipital sinus and the straight sinus, and empties into the sigmoid sinus which in turn reaches the jugular bulb. MA:0001868|EMAPA:18637|OpenCyc:Mx4rwDb62ZwpEbGdrcN5Y29ycA|FMA:50763|ncithesaurus:Transverse_Sinus hp.json transverse sinus|sinus transversus durae matris|transverse sinus vein|groove for right and left transverse sinuses|lateral sinus|sinus transversus http://purl.obolibrary.org/obo/UBERON_0001641 human_reference_atlas|uberon_slim HP:0008465 biolink:PhenotypicFeature Absent vertebra A developmental defect characterized by agenesis of one or more vertebral bodies. UMLS:C0158776|SNOMEDCT_US:15843004 hp.json Absent vertebrae http://purl.obolibrary.org/obo/HP_0008465 UBERON:0001644 biolink:AnatomicalEntity trochlear nerve A cranial nerve that runs to the eye muscles. GAID:838|NCIT:C12808|OpenCyc:Mx4rvyeBQ5wpEbGdrcN5Y29ycA|MESH:D014321|BAMS:nIV|HBA:9319|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=466|EMAPA:18218|BM:IVN|BIRNLEX:1654|XAO:0003091|ZFA:0000600|BAMS:4n|MA:0001105|TAO:0000600|UMLS:C0041159|AAO:0010469|VHOG:0000705|FMA:50865|EHDAA2:0002090|BAMS:IVn|MBA:911|UMLS:C0041159 hp.json CN-IV|trochlear IV nerve|nerve IV|pathetic nerve|trochlear nerve/root|trochlear nerve tree|cranial nerve IV|trochlear|4n|nervus trochlearis|trochlear nerve or its root|nervus trochlearis [IV]|fourth cranial nerve|superior oblique nerve|trochlear nerve [IV] http://purl.obolibrary.org/obo/UBERON_0001644 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core HP:0008468 biolink:PhenotypicFeature Abnormal sacral segmentation An abnormality related to a defect of vertebral separation of sacral vertebrae during development. UMLS:C1968942 hp.json http://purl.obolibrary.org/obo/HP_0008468 UBERON:0001643 biolink:AnatomicalEntity oculomotor nerve Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles. MESH:D009802|UMLS:C0028864|OpenCyc:Mx4rvj7pZpwpEbGdrcN5Y29ycA|BIRNLEX:1646|MA:0001095|ZFA:0000405|EHDAA2:0001284|UMLS:C0028864|HBA:9316|TAO:0000405|NCIT:C12758|EHDAA:3736|BAMS:3n|XAO:0003090|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=488|VHOG:0000692|BM:MB-IIIN|EMAPA:17574|AAO:0010468|FMA:50864|BAMS:IIIn|GAID:829|MBA:832 hp.json nerve III|nervus oculomotorius|third cranial nerve|occulomotor|oculomotor III|cranial nerve III|oculomotor III nerve|oculomotor nerve tree|CN-III|oculomotor nerve or its root|3n|oculomotor nerve [III]|nervus oculomotorius [III] http://purl.obolibrary.org/obo/UBERON_0001643 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core HP:0008467 biolink:PhenotypicFeature Thoracic hemivertebrae Absence of one half of the vertebral body in the thoracic spine. UMLS:C4020799|UMLS:C0432152|SNOMEDCT_US:95304000 hp.json Midthoracic hemivertebrae http://purl.obolibrary.org/obo/HP_0008467 CHEBI:38631 biolink:ChemicalSubstance aminoalkylindole hp.json aminoalkylindoles http://purl.obolibrary.org/obo/CHEBI_38631 3_STAR HP:0008462 biolink:PhenotypicFeature Cervical instability UMLS:C1863314 hp.json http://purl.obolibrary.org/obo/HP_0008462 HP:0008461 biolink:PhenotypicFeature Cervical vertebral facet hypoplasia UMLS:C4024673 hp.json http://purl.obolibrary.org/obo/HP_0008461 UBERON:0001640 biolink:AnatomicalEntity celiac artery The first major branch of the abdominal aorta. UMLS:C0007569|NCIT:C52846|EMAPA:35202|MA:0001931|FMA:50737|EHDAA2:0004519|MESH:D002445|GAID:483 hp.json coeliac trunck|coeliac artery|truncus cœliacus|celiac trunk|arteria coeliaca|truncus coeliacus|truncus coeliacus|arteria cœliaca|coeliac trunk|celiac tree|coeliac axis http://purl.obolibrary.org/obo/UBERON_0001640 human_reference_atlas|uberon_slim|pheno_slim PR:P05533 biolink:Protein lymphocyte antigen 6A-2/6E-1 (mouse) A lymphocyte antigen 6A-2/6E-1 that is encoded in the genome of mouse. UniProtKB:P05533 hp.json Stem cell antigen 1 (mouse)|TAP (mouse)|T-cell-activating protein (mouse)|SCA-1 (mouse)|mLy6a|Ly6|Ly-6A.2/Ly-6E.1 (mouse)|Ly6a http://purl.obolibrary.org/obo/PR_P05533 HP:0008464 biolink:PhenotypicFeature Absent spinous processes of lower thoracic and lumbar vertebrae UMLS:C4024671 hp.json http://purl.obolibrary.org/obo/HP_0008464 PR:P05532 biolink:Protein mast/stem cell growth factor receptor Kit (mouse) A mast/stem cell growth factor receptor that is encoded in the genome of mouse. UniProtKB:P05532 hp.json SCFR (mouse)|mKIT|CD117 (mouse)|tyrosine-protein kinase Kit (mouse)|proto-oncogene c-Kit (mouse)|Sl|Kit http://purl.obolibrary.org/obo/PR_P05532 HP:0008463 biolink:PhenotypicFeature Central vertebral hypoplasia UMLS:C4024672 hp.json http://purl.obolibrary.org/obo/HP_0008463 UBERON:0013691 biolink:AnatomicalEntity buttock A zone of soft tissue located on the posterior of the lateral side of the pelvic region corresponding to the gluteal muscles. EFO:0003070|UMLS:C0006497|NCIT:C89806|FMA:25245|CALOHA:TS-2224|MESH:D002081 hp.json regio glutealis|gluteal region|buttocks|gluteal part of pelvic girdle|clunis http://purl.obolibrary.org/obo/UBERON_0013691 pheno_slim|efo_slim HP:0033400 biolink:PhenotypicFeature Acute abdomen A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction. hp.json Acute abdominal pain http://purl.obolibrary.org/obo/HP_0033400 UBERON:0013697 biolink:AnatomicalEntity exocrine pancreas epithelium Epithelium lining the exocrine pancreas. CALOHA:TS-2108 hp.json epithelium of exocrine pancreas|exocrine pancreas epithelial cell http://purl.obolibrary.org/obo/UBERON_0013697 UBERON:0013698 biolink:AnatomicalEntity strand of pubic hair A hair in the frontal genital area of adolescent and adult humans, located on and around the sex organs, the crotch, and sometimes at the top of the inside of the thighs, in the pubic region around the pubis bone. NCIT:C33424|FMA:54319|UMLS:C1305636 hp.json pubic hair http://purl.obolibrary.org/obo/UBERON_0013698 pheno_slim UBERON:0013699 biolink:AnatomicalEntity strand of axillary hair A strand of hair that is part of a axilla. FMA:54253 hp.json axillary hair|hair of axilla|axilla hair http://purl.obolibrary.org/obo/UBERON_0013699 pheno_slim HP:0033402 biolink:PhenotypicFeature Digital ischemia Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. hp.json http://purl.obolibrary.org/obo/HP_0033402 HP:0033401 biolink:PhenotypicFeature Tissue ischemia Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. hp.json http://purl.obolibrary.org/obo/HP_0033401 UBERON:0013694 biolink:AnatomicalEntity brain endothelium Vascular endothelium found in blood vessels of the blood-brain-barrier. CALOHA:TS-0092|BTO:0001852|BTO:0003248 hp.json cerebromicrovascular endothelium http://purl.obolibrary.org/obo/UBERON_0013694 UBERON:0013695 biolink:AnatomicalEntity colon endothelium Vascular endothelium found in colon blood vessels. CALOHA:TS-0162 hp.json colonic endothelium|colon endothelial cells|colonic endothelial cell|colorectal endothelium|colorectal endothelial cell|colon endothelial cell http://purl.obolibrary.org/obo/UBERON_0013695 UBERON:0013696 biolink:AnatomicalEntity tonsil epithelium The epithelium that forms the surface of the tonsil dips into the underlying connective tissue in numerous places, forming crypts kown as tonsillar crypts. Stratified squamous epithelium, that may be heavily infiltrated by lymphocytes. Epithelial cells are present in the germinal as well as in the periphery of the nodule. CALOHA:TS-2070 hp.json epithelium of tonsil|tonsil epithelial cell http://purl.obolibrary.org/obo/UBERON_0013696 HP:0033408 biolink:PhenotypicFeature Elevated circulating acetoacetic acid concentration An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies. hp.json http://purl.obolibrary.org/obo/HP_0033408 HP:0033407 biolink:PhenotypicFeature Elevated urine acetoacetic acid level Elevated amount of acetoacetic acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033407 GO:0048709 biolink:BiologicalProcess oligodendrocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system. hp.json http://purl.obolibrary.org/obo/GO_0048709 HP:0033409 biolink:PhenotypicFeature Elevated urinary 2-hydroxybutyric acid An increased amount of 2-hydroxybutyric acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033409 HP:0033404 biolink:PhenotypicFeature Intestinal ischemia Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain. hp.json http://purl.obolibrary.org/obo/HP_0033404 HP:0033403 biolink:PhenotypicFeature Testicular ischemia Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis. hp.json http://purl.obolibrary.org/obo/HP_0033403 HP:0033406 biolink:PhenotypicFeature Elevated circulating o-phosphoethanolamine concentration An increased concentration of o-phosphoethanolamine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033406 GO:0048705 biolink:BiologicalProcess skeletal system morphogenesis The process in which the anatomical structures of the skeleton are generated and organized. hp.json skeletal morphogenesis http://purl.obolibrary.org/obo/GO_0048705 HP:0033405 biolink:PhenotypicFeature Abnormal circulating organic amino compound concentration Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. hp.json http://purl.obolibrary.org/obo/HP_0033405 UBERON:0013680 biolink:AnatomicalEntity inner canthus of left eye An inner canthus that is part of a left eye. FMA:59320 hp.json medial angle of left eye|medial canthus of left eye|left medial palpebral commissure|left medial canthus|left inner canthus http://purl.obolibrary.org/obo/UBERON_0013680 UBERON:0013686 biolink:AnatomicalEntity anatomical conduit space An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. FMA:9338 hp.json foramen space http://purl.obolibrary.org/obo/UBERON_0013686 GO:0048714 biolink:BiologicalProcess positive regulation of oligodendrocyte differentiation Any process that activates or increases the frequency, rate or extent of oligodendrocyte differentiation. hp.json up regulation of oligodendrocyte differentiation|activation of oligodendrocyte differentiation|stimulation of oligodendrocyte differentiation|upregulation of oligodendrocyte differentiation|up-regulation of oligodendrocyte differentiation http://purl.obolibrary.org/obo/GO_0048714 HP:0033411 biolink:PhenotypicFeature Lower extremity akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities. hp.json http://purl.obolibrary.org/obo/HP_0033411 UBERON:0013687 biolink:AnatomicalEntity pericranium Periosteum that is part of a skull. FMA:76623 hp.json periosteum externum cranii http://purl.obolibrary.org/obo/UBERON_0013687 GO:0048713 biolink:BiologicalProcess regulation of oligodendrocyte differentiation Any process that modulates the frequency, rate or extent of oligodendrocyte differentiation. hp.json http://purl.obolibrary.org/obo/GO_0048713 HP:0033410 biolink:PhenotypicFeature Elevated circulating cartilage oligomeric matrix protein concentration An increased blood concentration of cartilage oligomeric matrix protein (COMP). hp.json http://purl.obolibrary.org/obo/HP_0033410 HP:0033413 biolink:PhenotypicFeature Upper extremity hypokinesia Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. hp.json Hypokinesia of the upper extremities http://purl.obolibrary.org/obo/HP_0033413 UBERON:0013688 biolink:AnatomicalEntity tonsil germinal center A germinal center that is part of a tonsil. CALOHA:TS-1288 hp.json tonsil reaction center http://purl.obolibrary.org/obo/UBERON_0013688 HP:0033412 biolink:PhenotypicFeature Upper extremity akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities. hp.json Akinesia of the upper extremities http://purl.obolibrary.org/obo/HP_0033412 UBERON:0013683 biolink:AnatomicalEntity left dorsal thalamus A dorsal thalamus that is in_the_left_side_of a diencephalon. FMA:258716 hp.json left thalamus http://purl.obolibrary.org/obo/UBERON_0013683 pheno_slim UBERON:0013684 biolink:AnatomicalEntity right dorsal thalamus A dorsal thalamus that is in_the_right_side_of a diencephalon. FMA:258714 hp.json right thalamus http://purl.obolibrary.org/obo/UBERON_0013684 pheno_slim UBERON:0013685 biolink:AnatomicalEntity foramen of skull Anatomical space that is an opening in a bone of the skull. Wikipedia:Foramina_of_the_skull|SCTID:276742007|FMA:53165 hp.json foramina of the skull|cranial foramen|foramen of skull|cranial conduit|foramina of the skull|foramen of skull http://purl.obolibrary.org/obo/UBERON_0013685 UBERON:0011024 biolink:AnatomicalEntity extrinsic extensor muscle of manus The extrinsic extensor muscles of the hand are located in the back of the forearm and have long tendons connecting them to bones in the hand, where they exert their action. hp.json extrinsic extensor muscle of hand http://purl.obolibrary.org/obo/UBERON_0011024 HP:0033419 biolink:PhenotypicFeature Elevated circulating 3-hydroxybutyric acid concentration Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range. hp.json http://purl.obolibrary.org/obo/HP_0033419 HP:0033418 biolink:PhenotypicFeature Elevated circulating 2-hydroxybutyric acid concentration Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range. hp.json http://purl.obolibrary.org/obo/HP_0033418 HP:0033415 biolink:PhenotypicFeature Cardiac tamponade The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling. hp.json http://purl.obolibrary.org/obo/HP_0033415 UBERON:0013679 biolink:AnatomicalEntity inner canthus of right eye An inner canthus that is part of a right eye. FMA:59319 hp.json right inner canthus|medial canthus of right eye|medial angle of right eye|right medial palpebral commissure|right medial canthus http://purl.obolibrary.org/obo/UBERON_0013679 HP:0033414 biolink:PhenotypicFeature Lower extremity hypokinesia Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. hp.json Hypokinesia of the lower extremities http://purl.obolibrary.org/obo/HP_0033414 HP:0033417 biolink:PhenotypicFeature Elevated circulating hydroxybutyric acid concentration An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent. hp.json http://purl.obolibrary.org/obo/HP_0033417 GO:0048715 biolink:BiologicalProcess negative regulation of oligodendrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of oligodendrocyte differentiation. hp.json downregulation of oligodendrocyte differentiation|down-regulation of oligodendrocyte differentiation|down regulation of oligodendrocyte differentiation|inhibition of oligodendrocyte differentiation http://purl.obolibrary.org/obo/GO_0048715 HP:0033416 biolink:PhenotypicFeature Hip adductor weakness Reduced ability to bring the leg toward the midline of the body. hp.json http://purl.obolibrary.org/obo/HP_0033416 PR:P05555 biolink:Protein integrin alpha-M (mouse) An integrin alpha-M that is encoded in the genome of mouse. UniProtKB:P05555 hp.json mITGAM|cell surface glycoprotein MAC-1 subunit alpha (mouse)|CR-3 alpha chain (mouse)|Itgam|CD11b (mouse)|CD11 antigen-like family member B (mouse)|leukocyte adhesion receptor MO1 (mouse) http://purl.obolibrary.org/obo/PR_P05555 UBERON:0001689 biolink:AnatomicalEntity malleus bone The malleus or hammer is a hammer-shaped small bone or ossicle of the middle ear which connects with the incus and is attached to the inner surface of the eardrum. The word is Latin for hammer. It transmits the sound vibrations from the eardrum to the incus. The malleus is unique to mammals, and evolved from a lower jaw bone in basal amniotes called the articular, which still forms part of the jaw joint in reptiles. Embryologically it is derived from the first pharyngeal arch along with the rest of the bones of mastication, such as the maxilla and mandible. [WP,unvetted]. NCIT:C33051|MA:0001216|UMLS:C0024631|VHOG:0000690|EMAPA:18584|MESH:D008307|FMA:52753|GAID:867 hp.json malleus|anguloarticular - malleus|malleus http://purl.obolibrary.org/obo/UBERON_0001689 uberon_slim|pheno_slim HP:0033422 biolink:PhenotypicFeature Pulmonary artery adventitial fibrosis Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree. hp.json http://purl.obolibrary.org/obo/HP_0033422 HP:0033421 biolink:PhenotypicFeature Pulmonary artery intimal thickening Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%. hp.json http://purl.obolibrary.org/obo/HP_0033421 HP:0033424 biolink:PhenotypicFeature Pulmonary arterial hypertension with lack of acute response to NO challenge A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm). hp.json http://purl.obolibrary.org/obo/HP_0033424 UBERON:0013678 biolink:AnatomicalEntity anatomical line between inner canthi An anatomical line of the face that connects the two inner (medial) canthi of the eye. The length of this line is known as the inter canthal distance. FMA:284806 hp.json inter inner canthal line|bicanthal plane|inter-canthal line|inter medial canthal line|intercanthal line http://purl.obolibrary.org/obo/UBERON_0013678 HP:0033423 biolink:PhenotypicFeature Pulmonary arterial hypertension with positive acute response to NO challenge A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm. hp.json http://purl.obolibrary.org/obo/HP_0033423 HP:0033420 biolink:PhenotypicFeature Pulmonary arterial plexiform lesion Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels. hp.json http://purl.obolibrary.org/obo/HP_0033420 HP:0033429 biolink:PhenotypicFeature Neuroinflammation Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain. hp.json http://purl.obolibrary.org/obo/HP_0033429 UBERON:0001691 biolink:AnatomicalEntity external ear Part of the ear external to the tympanum (eardrum). It typically consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO]. EMAPA:16991|EHDAA:3786|MAT:0000147|BIRNLEX:1705|AAO:0011037|OpenCyc:Mx4rwOHtXJwpEbGdrcN5Y29ycA|EV:0100354|EHDAA2:0000462|MIAA:0000147|MESH:D004431|UMLS:C1269548|XAO:0000190|VHOG:0000311|FMA:52781|UMLS:C0013453|BTO:0002100|EFO:0004221|NCIT:C12292|UMLS:C0013453|GAID:104|MA:0000258 hp.json auricular region of head|auricular region|outer ear|auris externa http://purl.obolibrary.org/obo/UBERON_0001691 pheno_slim|efo_slim|uberon_slim UBERON:0001690 biolink:AnatomicalEntity ear Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. CALOHA:TS-1165|EHDAA2:0000423|MAT:0000138|OpenCyc:Mx4rvVjL05wpEbGdrcN5Y29ycA|BIRNLEX:1062|AAO:0011014|BTO:0000368|MIAA:0000138|MESH:D004423|UMLS:C0013443|galen:Ear|EV:0100353|EMAPA:16193|NCIT:C12394|OpenCyc:Mx4rvViXS5wpEbGdrcN5Y29ycA|FMA:52780|GAID:62|UMLS:C0013443|VHOG:0000330|EFO:0000826|MA:0000236|UMLS:C0521421|EHDAA:502|XAO:0000189 hp.json auris|auditory apparatus http://purl.obolibrary.org/obo/UBERON_0001690 organ_slim|pheno_slim|efo_slim|uberon_slim HP:0033426 biolink:PhenotypicFeature Pulmonary air embolism Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation. hp.json Venous air embolism http://purl.obolibrary.org/obo/HP_0033426 GO:0048729 biolink:BiologicalProcess tissue morphogenesis The process in which the anatomical structures of a tissue are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0048729 HP:0033425 biolink:PhenotypicFeature Periungual erythema Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail. hp.json http://purl.obolibrary.org/obo/HP_0033425 HP:0033428 biolink:PhenotypicFeature Systemic autoinflammation Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body. hp.json http://purl.obolibrary.org/obo/HP_0033428 HP:0033427 biolink:PhenotypicFeature Pulmonary capillary angioectasia Focal accumulation of dilated pulmonary capillaries. hp.json http://purl.obolibrary.org/obo/HP_0033427 UBERON:0001697 biolink:AnatomicalEntity orbit of skull Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball. FMA:53074|GAID:223|ZFA:0001410|NCIT:C12347|galen:Orbit|MESH:D009915|TAO:0001410|MA:0002482|UMLS:C0029180|BTO:0004687|XAO:0003171|OpenCyc:Mx4rvW8EgZwpEbGdrcN5Y29ycA hp.json eye socket|bony orbit|orbit of skull|orbit http://purl.obolibrary.org/obo/UBERON_0001697 uberon_slim|vertebrate_core|pheno_slim HP:0008499 biolink:PhenotypicFeature High hypermetropia A severe form of hypermetropia with over +5.00 diopters. UMLS:C4024665 hp.json Severe farsightedness|High-grade hypermetropia|High hyperopia|Severe long-sightedness http://purl.obolibrary.org/obo/HP_0008499 HP:0008498 biolink:PhenotypicFeature No permanent dentition UMLS:C4024666 hp.json Missing adult teeth|Absence of secondary dentition|No adult dentition|No secondary dentition|Absence of adult teeth http://purl.obolibrary.org/obo/HP_0008498 HP:0008494 biolink:PhenotypicFeature Inferior lens subluxation Partial displacement of the lens in the inferior direction. UMLS:C2036842 hp.json Inferior subluxated lens http://purl.obolibrary.org/obo/HP_0008494 CHEBI:26607 biolink:ChemicalSubstance saturated fatty acid Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess. PMID:20237329|PMID:16492686|PMID:19763019 hp.json saturated fatty acids|SFAs|saturated fatty acid|SFA http://purl.obolibrary.org/obo/CHEBI_26607 3_STAR UBERON:0001695 biolink:AnatomicalEntity squamous part of temporal bone A bone which is fused with the temporal bone in many mammals and forms part of the cheek region articulating with quadrate and pterygoid in other vertebrates. VHOG:0001561|MA:0001473|EMAPA:18021|AAO:0000574|FMA:52883 hp.json temporal bone squamous part|squamosum|pars squamosa ossis temporalis|squamosal|squama|os squamosum|squamous bone|squama temporalis|squamosal bone|squama temporalis|pars squamosa (os temporale) http://purl.obolibrary.org/obo/UBERON_0001695 pheno_slim HP:0008497 biolink:PhenotypicFeature Congenital craniofacial dysostosis UMLS:C4024667 hp.json http://purl.obolibrary.org/obo/HP_0008497 UBERON:0001694 biolink:AnatomicalEntity petrous part of temporal bone The petrous portion of the temporal bone or pyramid is pyramidal and is wedged in at the base of the skull between the sphenoid and occipital bones. Directed medially, forward, and a little upward, it presents for examination a base, an apex, three surfaces, and three angles, and contains, in its interior, the essential parts of the organ of hearing. The petrous portion is among the most basal elements of the skull and forms part of the endocranium.[WP,unvetted]. MESH:D010579|UMLS:C1261761|GAID:234|MA:0001477|EMAPA:17683|EHDAA2:0001452|FMA:52871|VHOG:0001553|NCIT:C32316 hp.json petromastoid part of temporal bone|petrosal bone|pars petrosa (os temporale)|pars petrosa ossis temporalis|temporal bone petrous part|petrosal|petrous bone http://purl.obolibrary.org/obo/UBERON_0001694 uberon_slim HP:0008496 biolink:PhenotypicFeature Multiple rows of eyelashes UMLS:C0423848|SNOMEDCT_US:95339000|UMLS:C3550336 hp.json Two rows of eyelashes|Extra rows of eyelashes|Multiple rows of eyelashes|Double row of eyelashes http://purl.obolibrary.org/obo/HP_0008496 NCBITaxon:58023 biolink:OrganismalEntity Tracheophyta GC_ID:1 hp.json vascular plants|vascular plants http://purl.obolibrary.org/obo/NCBITaxon_58023 NCBITaxon:58024 biolink:OrganismalEntity Spermatophyta GC_ID:1 hp.json seed plants|seed plants http://purl.obolibrary.org/obo/NCBITaxon_58024 UBERON:0001679 biolink:AnatomicalEntity ethmoid bone A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]. EMAPA:19018|GAID:212|NCIT:C12711|BTO:0004140|OpenCyc:Mx4rvuUPh5wpEbGdrcN5Y29ycA|UMLS:C0015027|MA:0001483|VHOG:0001317|FMA:52740|MESH:D005004 hp.json os ethmoidale|ethmoid|os ethmoidale|ethmoidal bone http://purl.obolibrary.org/obo/UBERON_0001679 uberon_slim|pheno_slim UBERON:0001678 biolink:AnatomicalEntity temporal bone The large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous. EHDAA:6035|SCTID:181795004|Wikipedia:Temporal_bone|FMA:52737|OpenCyc:Mx4rvbkAk5wpEbGdrcN5Y29ycA|MESH:D013701|GAID:232|MA:0001476|NCIT:C12797|EMAPA:17682|VHOG:0000800|UMLS:C0039484 hp.json os temporale|os temporale http://purl.obolibrary.org/obo/UBERON_0001678 uberon_slim|pheno_slim HP:0033433 biolink:PhenotypicFeature Ileocecal ulcer An erosion of the mucous membrane in the region connecting the ileum and cecum. hp.json Ileo-cecal ulcer http://purl.obolibrary.org/obo/HP_0033433 GO:0048736 biolink:BiologicalProcess appendage development The process whose specific outcome is the progression of an appendage over time, from its formation to the mature structure. An appendage is an organ or part that is attached to the trunk of an organism, such as a limb or a branch. hp.json http://purl.obolibrary.org/obo/GO_0048736 HP:0033432 biolink:PhenotypicFeature Opportunistic viral infection hp.json http://purl.obolibrary.org/obo/HP_0033432 HP:0033435 biolink:PhenotypicFeature Abnormal circulating keto acid concentration A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group. hp.json http://purl.obolibrary.org/obo/HP_0033435 HP:0033434 biolink:PhenotypicFeature Nasal septum perforation A full-thickness defect of the nasal septum. hp.json Nasal-septum perforation|Perforation of the nasal septum http://purl.obolibrary.org/obo/HP_0033434 CL:1001516 biolink:Cell intestinal enteroendocrine cell The various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract. hp.json http://purl.obolibrary.org/obo/CL_1001516 GO:0048732 biolink:BiologicalProcess gland development The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion. hp.json http://purl.obolibrary.org/obo/GO_0048732 GO:0048731 biolink:BiologicalProcess system development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. hp.json http://purl.obolibrary.org/obo/GO_0048731 goslim_mouse UBERON:0011004 biolink:AnatomicalEntity pharyngeal arch cartilage A cartilage element that is part of a splanchnocranium. ZFA:0001460|EFO:0003689|TAO:0001460 hp.json pharyngeal arch cartilages|splanchnocranium cartilage http://purl.obolibrary.org/obo/UBERON_0011004 efo_slim HP:0033431 biolink:PhenotypicFeature Cytomegalovirus colitis A form of cytomegalovirus infection characterized by infection and inflammation of the colon. hp.json CMV colitis http://purl.obolibrary.org/obo/HP_0033431 GO:0048730 biolink:BiologicalProcess epidermis morphogenesis The process in which the anatomical structures of the epidermis are generated and organized. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. hp.json hypodermis morphogenesis http://purl.obolibrary.org/obo/GO_0048730 HP:0033430 biolink:PhenotypicFeature Non-infectious meningitis Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. hp.json http://purl.obolibrary.org/obo/HP_0033430 UBERON:0001680 biolink:AnatomicalEntity lacrimal bone The irregularly thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla. MA:0001486|FMA:52741|NCIT:C32906|VHOG:0001149|UMLS:C0222733 hp.json infraorbital 1|lacrymal bone - infraorbital 1|lacrimal - infraorbital 1|lachrymal bone|lacrimal|os lacrimale|lachrymal bone - infraorbital 1|lacrymal bone http://purl.obolibrary.org/obo/UBERON_0001680 vertebrate_core|pheno_slim|uberon_slim HP:0033437 biolink:PhenotypicFeature Elevated circulating 4-methyl-2-oxopentanoic acid concentration Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation. hp.json Increased circulating alpha-ketoisocaproic acid concentration http://purl.obolibrary.org/obo/HP_0033437 HP:0033436 biolink:PhenotypicFeature Elevated circulating 3-methyl-2-oxovaleric acid concentration An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033436 HP:0033439 biolink:PhenotypicFeature Elevated circulating decenoylcarnitine concentration Increased concentration of decenoylcarnitine in the blood circulation. hp.json Elevated circulating O-decenoylcarnitine concentration|Elevated plasma decenoylcarnitine, C10:1 http://purl.obolibrary.org/obo/HP_0033439 GO:0048738 biolink:BiologicalProcess cardiac muscle tissue development The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure. hp.json heart muscle development http://purl.obolibrary.org/obo/GO_0048738 HP:0033438 biolink:PhenotypicFeature Elevated circulating myoglobin concentration An increased blood concentration of myoglobin. hp.json http://purl.obolibrary.org/obo/HP_0033438 UBERON:0001686 biolink:AnatomicalEntity auditory ossicle bone One of 3 small bones contained within the middle ear space and serve to transmit sounds from the air to the fluid-filled labyrinth. The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss. The term 'ossicles' literally means 'tiny bones' and commonly refers to the auditory ossicles, though the term may refer to any small bone throughout the body. [WP,unvetted]. EHDAA2:0001183|XAO:0000214|VHOG:0000461|MA:0000254|AAO:0011015|EHDAA:5697|NCIT:C32164|FMA:52750|EMAPA:17824|UMLS:C0013450|EV:0100360 hp.json ear ossicle|ear bone|auditory ossicle|ear ossicles|ossicle of inner ear|auditory bone|ossicle of ear|middle ear ossicle|middle ear bone|ossicular chain|ossicle http://purl.obolibrary.org/obo/UBERON_0001686 uberon_slim|pheno_slim UBERON:0001685 biolink:AnatomicalEntity hyoid bone A horseshoe shaped bone situated in the anterior midline of the neck between the chin and the thyroid cartilage. The hyoid bone provides attachment to the muscles of the floor of the mouth and the tongue above, the larynx below, and the epiglottis and pharynx behind. [WP,modified]. MESH:D006928|FMA:52749|Wikipedia:Hyoid_bone|NCIT:C32752|EMAPA:18650|GAID:197|MA:0001484|AAO:0000684|UMLS:C0020417|VHOG:0001325|SCTID:263352000 hp.json os hyoideum|hyoid bone|lingual bone|os hyoideum|hyoid|hyoid bone|lingual bone|hyoid|hyoideum|os hyoideum|os hyoideum|hyoideum http://purl.obolibrary.org/obo/UBERON_0001685 uberon_slim|pheno_slim UBERON:0001688 biolink:AnatomicalEntity incus bone The incus or anvil is the anvil-shaped small bone or ossicle in the middle ear. It connects the malleus to the stapes. It was first described by Alessandro Achillin of Bologna. The incus transmits sound vibrations from the malleus to the stapes. The incus only exists in mammals, and is derived from a reptilian upper jaw bone, the quadrate bone. Embryologically it is derived from the first pharyngeal arch along with the rest of the bones of mastication, such as the maxilla and mandible. [WP,unvetted]. GAID:866|MESH:D007188|MA:0001215|UMLS:C0021181|EMAPA:18583|NCIT:C32770|VHOG:0000689|FMA:52752 hp.json quadrate - incus|incus|incus bone http://purl.obolibrary.org/obo/UBERON_0001688 uberon_slim|pheno_slim UBERON:0001687 biolink:AnatomicalEntity stapes bone The stapes or stirrup is the stirrup-shaped small bone or ossicle in the middle ear which is attached to the incus laterally and to the fenestra ovalis, the 'oval window' medially. The oval window is adjacent to the vestibule of the inner ear. The stapes is the smallest and lightest bone in the human body. The stapes transmits the sound vibrations from the incus to the membrane of the inner ear inside the fenestra ovalis. The stapes is also stabilized by the stapedius muscle, which is innervated by the facial nerve. In non-mammalian vertebrates, the bone homologous to the stapes is usually called the columella; however, in reptiles, either term may be used[WP,unvetted]. MA:0001217|UMLS:C0038152|NCIT:C33612|EMAPA:18585|OpenCyc:Mx4rv5UnkZwpEbGdrcN5Y29ycA|FMA:52751|MESH:D013199|VHOG:0000688|GAID:868 hp.json stilus columellare|stirrup|columellare|columella|os intermedium|mesostapediale|mediostapediale|stapellos|stelidium|stapes|interstapediale|columella auris|os columellare http://purl.obolibrary.org/obo/UBERON_0001687 uberon_slim|pheno_slim UBERON:0001682 biolink:AnatomicalEntity palatine bone A paired dermal bone situated in the mid-palate[Palaeos]. TAO:0000015|FMA:52746|EMAPA:36619|MA:0001495|UMLS:C0222734|NCIT:C52745 hp.json os palatinum|dermopalatine|palatum|palate bone|palatine http://purl.obolibrary.org/obo/UBERON_0001682 pheno_slim|uberon_slim UBERON:0001681 biolink:AnatomicalEntity nasal bone One of two small oblong bones, varying in size and form in different individuals; they are placed side by side at the middle and upper part of the face, and form, by their junction, 'the bridge' of the nose[WP]. Paired dermal bones, likened to a bone tube, positioned lateral to the supraethmoid. Nasal bones are transversed by the anterior most part of the supraorbital canals and bear one neuromast foramen in zebrafish[ZFA]. GAID:222|ZFA:0000365|EMAPA:19202|MESH:D009295|UMLS:C0027422|FMA:52745|VHOG:0001370|NCIT:C33157|TAO:0000365|AAO:0000312|MA:0001494|OpenCyc:Mx4rwGOTZJwpEbGdrcN5Y29ycA hp.json os nasale|nasals|nasal bones http://purl.obolibrary.org/obo/UBERON_0001681 vertebrate_core|pheno_slim|uberon_slim UBERON:0001684 biolink:AnatomicalEntity mandible A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton. CALOHA:TS-2225|NCIT:C12290|FMA:52748|BTO:0001748|MA:0001487|UMLS:C0024687|EFO:0001965|galen:Mandible|EHDAA2:0001059|EHDAA:8007|GAID:68|MESH:D008334|EMAPA:18290 hp.json mandibular series|lower mandibula|mandibulla|mandibula|lower jaw bone|mandibula|mammaliam mandible|lower jaw|inferior maxillary bone http://purl.obolibrary.org/obo/UBERON_0001684 uberon_slim|pheno_slim|efo_slim UBERON:0001683 biolink:AnatomicalEntity jugal bone The quadrilateral bone that forms the prominence of the cheek. GAID:225|EMAPA:25111|FMA:52747|MA:0001497|VHOG:0001638|MFMO:0000146 hp.json zygoma|malar bone|orbital bone|zygomatic|cheek bone|jugal|os zygomaticum|os zygomaticus|zygomatic bone|os zygomaticum|jugale|zygoma|jugal bone http://purl.obolibrary.org/obo/UBERON_0001683 uberon_slim|pheno_slim GO:0009135 biolink:BiologicalProcess purine nucleoside diphosphate metabolic process The chemical reactions and pathways involving purine nucleoside diphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with diphosphate on the sugar. hp.json purine nucleoside diphosphate metabolism http://purl.obolibrary.org/obo/GO_0009135 GO:0009132 biolink:BiologicalProcess nucleoside diphosphate metabolic process The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar. hp.json nucleoside diphosphate metabolism http://purl.obolibrary.org/obo/GO_0009132 GO:0009141 biolink:BiologicalProcess nucleoside triphosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. hp.json nucleoside triphosphate metabolism http://purl.obolibrary.org/obo/GO_0009141 CHEBI:36063 biolink:ChemicalSubstance oxytocic A drug that stimulates contraction of the myometrium. Oxytocics are used to induce labour, obstetric at term, to prevent or control postpartum or postabortion haemorrhage, and to assess foetal status in high risk pregnancies. They may also be used alone or with other drugs to induce abortions (abortifacients). hp.json oxytocic agents|oxytocic|oxytocic drugs|uterine stimulants http://purl.obolibrary.org/obo/CHEBI_36063 3_STAR CHEBI:36080 biolink:ChemicalSubstance protein A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. hp.json proteins http://purl.obolibrary.org/obo/CHEBI_36080 3_STAR GO:0009144 biolink:BiologicalProcess purine nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. hp.json purine nucleoside triphosphate metabolism http://purl.obolibrary.org/obo/GO_0009144 HP:0008407 biolink:PhenotypicFeature Hyperconvex thumb nails UMLS:C1855290 hp.json Tightly curved thumb nail http://purl.obolibrary.org/obo/HP_0008407 GO:0009150 biolink:BiologicalProcess purine ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. hp.json purine ribonucleotide metabolism http://purl.obolibrary.org/obo/GO_0009150 HP:0008404 biolink:PhenotypicFeature Nail dystrophy Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. SNOMEDCT_US:87065009|MEDDRA:10028698|UMLS:C0221260 hp.json Poor nail formation|Onychodystrophy|Dystrophic nails http://purl.obolibrary.org/obo/HP_0008404 HP:0008400 biolink:PhenotypicFeature Onycholysis of distal fingernails Detachment of the distal fingernails from the nail bed. UMLS:C4024680 hp.json Detachment of outermost fingernails http://purl.obolibrary.org/obo/HP_0008400 HP:0008402 biolink:PhenotypicFeature Ridged fingernail Longitudinal, linear prominences in the fingernail plate. UMLS:C1849392 hp.json Ridged fingernail|Ridged fingernails|Longitudinally grooved fingernails http://purl.obolibrary.org/obo/HP_0008402 HP:0008401 biolink:PhenotypicFeature Onychogryposis of toenails Thickened toenails. UMLS:C4024679 hp.json Overgrowth and curving of toenails http://purl.obolibrary.org/obo/HP_0008401 CHEBI:36078 biolink:ChemicalSubstance cholanoid LIPID_MAPS_class:LMST04 hp.json cholanoids|bile acids and derivatives http://purl.obolibrary.org/obo/CHEBI_36078 3_STAR GO:0000785 biolink:CellularComponent chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. NIF_Subcellular:sao1615953555 hp.json chromosome scaffold|cytoplasmic chromatin|nuclear chromatin http://purl.obolibrary.org/obo/GO_0000785 CHEBI:51689 biolink:ChemicalSubstance enone An alpha,beta-unsaturated ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) in which the C=O function is conjugated to a C=C double bond at the alpha,beta position. Wikipedia:Enone hp.json enones http://purl.obolibrary.org/obo/CHEBI_51689 3_STAR GO:0009117 biolink:BiologicalProcess nucleotide metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). hp.json nucleotide metabolism http://purl.obolibrary.org/obo/GO_0009117 goslim_pir GO:0009112 biolink:BiologicalProcess nucleobase metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. hp.json nucleobase metabolism http://purl.obolibrary.org/obo/GO_0009112 CHEBI:51683 biolink:ChemicalSubstance methoxybenzenes Any aromatic ether that consists of a benzene skeleton substituted with one or more methoxy groups. hp.json methoxybenzene http://purl.obolibrary.org/obo/CHEBI_51683 3_STAR CHEBI:36043 biolink:ChemicalSubstance antimicrobial drug A drug used to treat or prevent microbial infections. hp.json antimicrobial drugs http://purl.obolibrary.org/obo/CHEBI_36043 3_STAR CHEBI:36044 biolink:ChemicalSubstance antiviral drug A substance used in the prophylaxis or therapy of virus diseases. hp.json anti-viral drug|anti-virus drug|antiviral drugs http://purl.obolibrary.org/obo/CHEBI_36044 3_STAR GO:0000792 biolink:CellularComponent heterochromatin A compact and highly condensed form of chromatin that is refractory to transcription. Wikipedia:Heterochromatin|NIF_Subcellular:sao581845896 hp.json transcriptionally inactive chromatin|nuclear heterochromatin|transcriptionally silent chromatin http://purl.obolibrary.org/obo/GO_0000792 GO:0000791 biolink:CellularComponent euchromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. NIF_Subcellular:sao445485807|Wikipedia:Euchromatin hp.json nuclear euchromatin|transcriptionally active chromatin http://purl.obolibrary.org/obo/GO_0000791 CHEBI:36059 biolink:ChemicalSubstance hydroxy monocarboxylic acid anion Any monocarboxylic acid anion carrying at least one hydroxy substituent. hp.json hydroxymonocarboxylic acid anions|hydroxy monocarboxylic acid anions|hydroxymonocarboxylic acid anion http://purl.obolibrary.org/obo/CHEBI_36059 3_STAR UBERON:0001628 biolink:AnatomicalEntity posterior communicating artery One of a pair of right-sided and left-sided blood vessels in the circle of Willis. It connects the three cerebral arteries of the same side. Anteriorly, it is one portion of the terminal trifurcation of the internal carotid artery. The anterior cerebral artery and the middle cerebral artery are the other two branches of the trifurcation. Posteriorly, it communicates with the posterior cerebral artery. NCIT:C33357|Wikipedia:Posterior_communicating_artery|SCTID:181314001|MA:0002023|ZFA:0005001|OpenCyc:Mx4rwDDlqpwpEbGdrcN5Y29ycA|EHDAA:3352|TAO:0005001|FMA:50084|RETIRED_EHDAA2:0001487|EHDAA2:0004518|EMAPA:18600|UMLS:C0149559 hp.json PCS|PCA|arteria cerebri communicans posterior|arteria cerebri communicans posterior|caudal communicating segment|posterior communicating segment of the basilar artery http://purl.obolibrary.org/obo/UBERON_0001628 vertebrate_core|human_reference_atlas|uberon_slim UBERON:0001627 biolink:AnatomicalEntity middle cerebral artery The middle cerebral artery (MCA) is one of the three major paired arteries that supplies blood to the cerebrum. The MCA arises from the internal carotid and continues into the lateral sulcus where it then branches and projects to many parts of the lateral cerebral cortex. It also supplies blood to the anterior temporal lobes and the insular cortices. The left and right MCAs rise from trifurcations of the internal carotid arteries and thus are connected to the anterior cerebral arteries and the posterior communicating arteries, which connect to the posterior cerebral arteries. The MCAs are not considered a part of the Circle of Willis. [WP,unvetted]. GAID:487|NCIT:C12830|EHDAA2:0001179|FMA:50079|UMLS:C0149566|OpenCyc:Mx4rvh3qQ5wpEbGdrcN5Y29ycA|BTO:0005206|EHDAA:5298|MA:0001935|MESH:D020768|EMAPA:18239 hp.json arteria cerebri media|Sylvian artery http://purl.obolibrary.org/obo/UBERON_0001627 human_reference_atlas|uberon_slim UBERON:0001623 biolink:AnatomicalEntity dorsal nasal artery The dorsal nasal artery (nasal artery) is an artery of the head. It is one of the two terminal branches of the ophthalmic artery. [WP,unvetted]. EMAPA:35292|FMA:50000|MA:0001945|UMLS:C0226194|NCIT:C52983 hp.json dorsal nasal branch of ophthalmic artery|arteria dorsalis nasi|external nasal artery http://purl.obolibrary.org/obo/UBERON_0001623 human_reference_atlas|uberon_slim HP:0008437 biolink:PhenotypicFeature Bifid thoracic vertebrae UMLS:C2751478 hp.json http://purl.obolibrary.org/obo/HP_0008437 HP:0008436 biolink:PhenotypicFeature Absent/hypoplastic coccyx UMLS:C1856644 hp.json Absent/small tailbone|Absent/underdeveloped tailbone http://purl.obolibrary.org/obo/HP_0008436 HP:0008439 biolink:PhenotypicFeature Lumbar hemivertebrae Absence of one half of the vertebral body in the lumbar spine. UMLS:C0432149|SNOMEDCT_US:93167001 hp.json http://purl.obolibrary.org/obo/HP_0008439 HP:0008438 biolink:PhenotypicFeature Vertebral arch anomaly A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. UMLS:C1835764 hp.json Vertebral arch abnormalities http://purl.obolibrary.org/obo/HP_0008438 UBERON:0001631 biolink:AnatomicalEntity thoracic duct A major lymphatic vessel that drains lymph from the lower body, left appendage, and left thorax into the junction of the left jugular and subclavian veins. EHDAA2:0004501|FMA:5031|ZFA:0005110|TAO:0005110|UMLS:C0039979|MA:0002801|NCIT:C33768|GAID:1290|MESH:D013897|EMAPA:19310 hp.json ductus thoracicus|trunk of thoracic duct tree http://purl.obolibrary.org/obo/UBERON_0001631 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core HP:0008433 biolink:PhenotypicFeature Reversed usual vertebral column curves UMLS:C4024676 hp.json http://purl.obolibrary.org/obo/HP_0008433 HP:0008432 biolink:PhenotypicFeature Anterior wedging of L1 An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). UMLS:C4024677 hp.json http://purl.obolibrary.org/obo/HP_0008432 UBERON:0001630 biolink:AnatomicalEntity muscle organ Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. EV:0100146|ZFA:0005145|XAO:0000172|AAO:0011066|TAO:0005145|EMAPA:37474|VHOG:0001245|OpenCyc:Mx4rv2kf-5wpEbGdrcN5Y29ycA|galen:Muscle|SCTID:71616004|MA:0000015|EMAPA:32715|FMA:5022|GAID:131 hp.json muscle http://purl.obolibrary.org/obo/UBERON_0001630 pheno_slim|uberon_slim|vertebrate_core|organ_slim GO:0000768 biolink:BiologicalProcess syncytium formation by plasma membrane fusion The formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells. hp.json cell fusion http://purl.obolibrary.org/obo/GO_0000768 UBERON:0001633 biolink:AnatomicalEntity basilar artery A major artery that supplues the hindbrain and runs along the ventral keel of the hindbrain. MESH:D001488|UMLS:C0004811|FMA:50542|ZFA:0005002|VHOG:0000237|TAO:0005002|EHDAA2:0000163|EMAPA:17307|EHDAA:5285|MA:0001920|OpenCyc:Mx4rwJTtcZwpEbGdrcN5Y29ycA|GAID:474|NCIT:C12676 hp.json BA http://purl.obolibrary.org/obo/UBERON_0001633 unverified_taxonomic_grouping|pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core HP:0008435 biolink:PhenotypicFeature Absent in utero ossification of vertebral bodies UMLS:C1842698 hp.json http://purl.obolibrary.org/obo/HP_0008435 HP:0008434 biolink:PhenotypicFeature Hypoplastic cervical vertebrae UMLS:C1835570 hp.json Underdeveloped cervical vertebrae|Cervical vertebrae hypoplasia http://purl.obolibrary.org/obo/HP_0008434 HP:0008430 biolink:PhenotypicFeature Anterior beaking of lumbar vertebrae Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. UMLS:C4021541 hp.json Anterior tongue-like protrusion of lumbar vertebral bodies http://purl.obolibrary.org/obo/HP_0008430 UBERON:0001617 biolink:AnatomicalEntity mental artery The mental branch of inferior alveolar artery escapes with the nerve at the mental foramen, supplies the chin, and anastomoses with the submental and inferior labial arteries. [WP,unvetted]. NCIT:C52973|MA:0002002|EMAPA:37105|UMLS:C0226144|FMA:49701 hp.json mental branch of inferior alveolar artery|ramus mentalis (arteria alveolaris inferior) http://purl.obolibrary.org/obo/UBERON_0001617 human_reference_atlas|uberon_slim UBERON:0001616 biolink:AnatomicalEntity maxillary artery An artery that supplies deep structures of the face. It comes just out behind the neck of the mandible. [WP,unvetted]. FMA:49675|GAID:498|SCTID:181326006|NCIT:C34205|EMAPA:17311|UMLS:C0024949|MA:0001919|EHDAA2:0001069|MESH:D008438|Wikipedia:Maxillary_artery|EHDAA:7357|OpenCyc:Mx4rwDDJ45wpEbGdrcN5Y29ycA hp.json arteria maxillaris|arteria maxillaris|internal maxillary artery http://purl.obolibrary.org/obo/UBERON_0001616 human_reference_atlas|uberon_slim UBERON:0001619 biolink:AnatomicalEntity ophthalmic artery The ophthalmic artery is a branch of the internal carotid artery which supplies branches to supply the eye and other structures in the orbit. It enters the orbit together with the Optic nerve through the Optic foramen/canal. [WP,modified]. OpenCyc:Mx4rvcCxpJwpEbGdrcN5Y29ycA|MESH:D009880|NCIT:C33216|UMLS:C0029078|EHDAA2:0001300|AAO:0010497|MA:0002011|FMA:49868|GAID:503|EHDAA:7363|EMAPA:17007|XAO:0000368 hp.json opthalmic artery|arteria ophthalmica http://purl.obolibrary.org/obo/UBERON_0001619 uberon_slim|human_reference_atlas UBERON:0001618 biolink:AnatomicalEntity buccal artery The buccal artery (buccinator artery) is small and runs obliquely forward, between the Pterygoideus internus and the insertion of the Temporalis, to the outer surface of the Buccinator, to which it is distributed, anastomosing with branches of the external maxillary and with the infraorbital. [WP,unvetted]. EMAPA:37073|UMLS:C0226151|NCIT:C52847|MA:0001924|FMA:49754 hp.json arteria buccalis|arteria buccinatoria http://purl.obolibrary.org/obo/UBERON_0001618 uberon_slim|human_reference_atlas UBERON:0001613 biolink:AnatomicalEntity occipital artery The occipital artery arises opposite the facial artery, its path is below the posterior belly of digastric to the occipital region. This artery supplies blood to the back of the scalp and sterno-mastoid muscles. Other muscles it supplies are deep muscles in the back and neck. [WP,unvetted]. FMA:49586|UMLS:C0226117|OpenCyc:Mx4rwC1IFJwpEbGdrcN5Y29ycA|EMAPA:37672|NCIT:C33194|MA:0002009 hp.json arteria occipitalis http://purl.obolibrary.org/obo/UBERON_0001613 human_reference_atlas|uberon_slim UBERON:0001612 biolink:AnatomicalEntity facial artery A branch of the external carotid artery that supplies structures of the face. [WP,unvetted]. SCTID:181328007|MA:0001950|EMAPA:19213|Wikipedia:Facial_artery|OpenCyc:Mx4rwCt95ZwpEbGdrcN5Y29ycA|FMA:49549|UMLS:C0226109|NCIT:C32578 hp.json arteria maxillaris externa|arteria maxillaris externa|external maxillary artery http://purl.obolibrary.org/obo/UBERON_0001612 human_reference_atlas|uberon_slim GO:0009101 biolink:BiologicalProcess glycoprotein biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. hp.json glycoprotein anabolism|glycoprotein biosynthesis|glycoprotein synthesis|glycoprotein formation http://purl.obolibrary.org/obo/GO_0009101 GO:0009100 biolink:BiologicalProcess glycoprotein metabolic process The chemical reactions and pathways involving glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. hp.json glycoprotein metabolism http://purl.obolibrary.org/obo/GO_0009100 goslim_drosophila HP:0008447 biolink:PhenotypicFeature Hypoplastic coccygeal vertebrae UMLS:C2751480 hp.json http://purl.obolibrary.org/obo/HP_0008447 HP:0008449 biolink:PhenotypicFeature Progressive cervical vertebral spine fusion UMLS:C1851129 hp.json http://purl.obolibrary.org/obo/HP_0008449 UBERON:0001620 biolink:AnatomicalEntity central retinal artery The central retinal artery (retinal artery) branches off the ophthalmic artery, running inferior to the optic nerve within its dural sheath to the eyeball. [WP,unvetted]. GAID:508|FMA:49879|EMAPA:37113|MESH:D012161|NCIT:C52997|UMLS:C0035301|MA:0002038 hp.json central artery of the retina|retinal artery|central artery of retina|arteria centralis retinae|arteria centralis retinae|Zinn's artery http://purl.obolibrary.org/obo/UBERON_0001620 human_reference_atlas|uberon_slim HP:0008444 biolink:PhenotypicFeature Posterior wedging of vertebral bodies An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). UMLS:C1969679 hp.json Posterior wedging http://purl.obolibrary.org/obo/HP_0008444 HP:0008443 biolink:PhenotypicFeature Neuropathic spinal arthropathy A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures. UMLS:C0575157|SNOMEDCT_US:298380006 hp.json Spinal deformities|Charcot spinal arthropathy|Spinal neuroarthropathy http://purl.obolibrary.org/obo/HP_0008443 UBERON:0001622 biolink:AnatomicalEntity lacrimal artery The lacrimal artery arises close to the optic foramen, and is one of the largest branches derived from the ophthalmic artery: not infrequently it is given off before the artery enters the orbit. It accompanies the lacrimal nerve along the upper border of the Lateral Rectus, supplies the lacrimal gland. [WP,unvetted]. FMA:49927|NCIT:C52948|MA:0001988|EMAPA:37094|UMLS:C0226171 hp.json a. lacrimalis http://purl.obolibrary.org/obo/UBERON_0001622 human_reference_atlas|uberon_slim UBERON:0001621 biolink:AnatomicalEntity coronary artery An artery that supplies the myocardium. galen:CoronaryArtery|MA:0002453|OpenCyc:Mx4rvoL56ZwpEbGdrcN5Y29ycA|VHOG:0001557|EV:0100383|EFO:0002551|EMAPA:19160|ZFA:0005812|UMLS:C0205042|CALOHA:TS-0176|NCIT:C12843|FMA:49893|BTO:0000290 hp.json coronary vessel|coronary arterial tree http://purl.obolibrary.org/obo/UBERON_0001621 pheno_slim|efo_slim|uberon_slim HP:0008445 biolink:PhenotypicFeature Cervical spinal canal stenosis An abnormal narrowing of the cervical spinal canal. UMLS:C1844925 hp.json Narrow cervical spinal canal http://purl.obolibrary.org/obo/HP_0008445 HP:0008440 biolink:PhenotypicFeature C1-C2 vertebral abnormality Any abnormality of the atlas and the axis. UMLS:C4024675 hp.json http://purl.obolibrary.org/obo/HP_0008440 HP:0008442 biolink:PhenotypicFeature Vertebral hyperostosis Excessive growth of the bones of the vertebral bodies. UMLS:C1834057 hp.json http://purl.obolibrary.org/obo/HP_0008442 HP:0008441 biolink:PhenotypicFeature Herniation of intervertebral nuclei The presence of one or more herniated nucleus pulposus of intervertebral disk. UMLS:C1832597|MSH:D007405|SNOMEDCT_US:73589001|UMLS:C0021818 hp.json Herniated disc|Herniated disk|Herniated intervertebral nuclei http://purl.obolibrary.org/obo/HP_0008441 hposlim_core UBERON:0001606 biolink:AnatomicalEntity muscle of iris . SCTID:280888007|FMA:49154|Wikipedia:Iris_muscle|MA:0001287|EMAPA:35448 hp.json iris muscle organ|iris muscle|muscle organ of iris http://purl.obolibrary.org/obo/UBERON_0001606 uberon_slim UBERON:0001605 biolink:AnatomicalEntity ciliary muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. UMLS:C0559230|NCIT:C32315|Wikipedia:Ciliary_muscle|MA:0001269|EMAPA:35240|BTO:0000654|FMA:49151|SCTID:280862009 hp.json musculus ciliarus|ciliaris|Bowman`s muscles|musculus ciliaris|musculus ciliaris|ciliaris http://purl.obolibrary.org/obo/UBERON_0001605 uberon_slim|pheno_slim UBERON:0001608 biolink:AnatomicalEntity dilatator pupillae A smooth muscle of the eye, running radially in the iris that functions as a dilator. [WP,unvetted]. UMLS:C0229190|BTO:0001371|FMA:49158|EMAPA:35286|MA:0001288|NCIT:C32463 hp.json pupillary dilator|pupillary muscle|iris dilator muscle|pupil dilator muscle|dilator muscle of pupil|radial muscle of iris|radial muscle|dilator pupillae muscle|musculus dilatator pupillae|iris dilator|pupillary dilator muscle|dilator pupillae muscle|dilator of pupil|radiating fibers|pupil dilator|musculus dilator pupillae|dilator pupillae|musculus dilatator pupillae http://purl.obolibrary.org/obo/UBERON_0001608 uberon_slim UBERON:0001607 biolink:AnatomicalEntity sphincter pupillae A sphincter muscle that is part of the iris. FMA:49157|MA:0001289|NCIT:C33586|BTO:0000656|UMLS:C0229189|EMAPA:35788 hp.json M. sphincter pupillae|pupillary sphincter muscle|pupillary constrictor muscle|circular fibers|pupillary sphincter|musculus sphincter pupillae|sphincter pupillae|iris constrictor|constrictor pupillae|spincter pupillae|sphincter muscle of pupil|iris sphincter|m. sphincter pupillae|iris sphincter muscle|iris constrictor muscle|sphincter pupillae muscle http://purl.obolibrary.org/obo/UBERON_0001607 uberon_slim UBERON:0001602 biolink:AnatomicalEntity medial rectus extraocular muscle The medial rectus muscle is a muscle in the orbit. As with most of the muscles of the orbit, it is innervated by the inferior division of the oculomotor nerve (Cranial Nerve III). This muscle shares an origin with several other extrinsic eye muscles, the anulus tendineus, or common tendon. It is the largest of the extraocular muscles and its only action is adduction of the eyeball. [WP,unvetted]. ZFA:0000301|FMA:49037|TAO:0000301|NCIT:C33068|AAO:0010113|VHOG:0001127|UMLS:C0582820|MA:0001281 hp.json m. rectus medialis|medial rectus|medial rectus extraocular muscle|medial recti|medial rectus muscle|musculus rectus medialis|musculus rectus medialis bulbi http://purl.obolibrary.org/obo/UBERON_0001602 vertebrate_core|pheno_slim|uberon_slim UBERON:0001601 biolink:AnatomicalEntity extra-ocular muscle Skeletal muscle derived from cranial mesoderm and controls eye movements. TAO:0000511|EMAPA:18234|AAO:0010028|FMA:49033|EFO:0001921|VHOG:0000549|BTO:0001579|CALOHA:TS-0305|MA:0001271|EHDAA2:0000482|EHDAA:5729|ZFA:0000511 hp.json extraocular muscle|extrinsic eye muscle|extrinsic ocular muscle|musculi externi bulbi oculi|extrinsic muscle of eyeball|extraocular musculature|extraocular skeletal muscle|extra-ocular skeletal muscle http://purl.obolibrary.org/obo/UBERON_0001601 vertebrate_core|pheno_slim|efo_slim|uberon_slim UBERON:0001604 biolink:AnatomicalEntity levator palpebrae superioris The levator palpebrae superioris (or levator muscle of upper eyelid) is the muscle in the orbit that elevates the superior (upper) eyelid. [WP,unvetted]. UMLS:C0224134|EMAPA:36652|FMA:49041|MA:0001272|NCIT:C52802 hp.json http://purl.obolibrary.org/obo/UBERON_0001604 uberon_slim|pheno_slim GO:0000741 biolink:BiologicalProcess karyogamy The creation of a single nucleus from multiple nuclei as a result of fusing the lipid bilayers that surround each nuclei. Wikipedia:Karyogamy hp.json nuclear fusion|nuclear fusion during karyogamy http://purl.obolibrary.org/obo/GO_0000741 UBERON:0001603 biolink:AnatomicalEntity lateral rectus extra-ocular muscle The lateral rectus muscle is a muscle in the orbit. It is one of six extraocular muscles that control the movements of the eye (abduction in this case) and the only muscle innervated by the abducens nerve, cranial nerve VI. [WP,unvetted]. FMA:49038|UMLS:C0582821|AAO:0010107|ZFA:0000383|VHOG:0001129|TAO:0000383|MA:0001280|NCIT:C32945 hp.json musculus rectus lateralis bulbi|lateral recti|lateral rectus|musculus rectus lateralis|lateral rectus extraocular muscle|lateral extraocular muscle|lateral rectus muscle|posterior rectus|M. rectus lateralis http://purl.obolibrary.org/obo/UBERON_0001603 vertebrate_core|pheno_slim|uberon_slim GO:0000740 biolink:BiologicalProcess nuclear membrane fusion The joining of 2 or more lipid bilayer membranes that surround the nucleus. hp.json http://purl.obolibrary.org/obo/GO_0000740 HGNC:438 biolink:Gene ALPL (human) A protein coding gene ALPL in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=438 HGNC:437 biolink:Gene ALPI (human) A protein coding gene ALPI in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=437 CHEBI:24020 biolink:ChemicalSubstance fat-soluble vitamin (role) Any vitamin that dissolves in fats and are stored in body tissues. Unlike the water-soluble vitamins, they are stored in the body for long periods of time and generally pose a greater risk for toxicity when consumed in excess. PMID:33549284|PMID:34045883|PMID:32057251|PMID:31838543 hp.json fat-soluble vitamin|fettloesliche Vitamine|fat-soluble vitamins http://purl.obolibrary.org/obo/CHEBI_24020 3_STAR HGNC:439 biolink:Gene ALPP (human) A protein coding gene ALPP in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=439 HP:0008419 biolink:PhenotypicFeature Intervertebral disc degeneration The presence of degenerative changes of intervertebral disk. MSH:D055959|SNOMEDCT_US:77547008|UMLS:C0158266 hp.json Degenerative disc disease|Degenerative intervertebral disc|Degeneration of intervertebral disks|Degeneration of intervertebral discs|Degenerative intervertebral disk http://purl.obolibrary.org/obo/HP_0008419 HP:0008418 biolink:PhenotypicFeature Squared-off platyspondyly UMLS:C1849051 hp.json http://purl.obolibrary.org/obo/HP_0008418 HP:0008414 biolink:PhenotypicFeature Lumbar kyphosis in infancy UMLS:C1863423 hp.json Hunched back in infancy|Round back in infancy http://purl.obolibrary.org/obo/HP_0008414 HP:0008417 biolink:PhenotypicFeature Vertebral hypoplasia Small, underdeveloped vertebral bodies. UMLS:C0345394|SNOMEDCT_US:205456006 hp.json Underdeveloped vertebrae http://purl.obolibrary.org/obo/HP_0008417 hposlim_core HP:0008416 biolink:PhenotypicFeature Six lumbar vertebrae UMLS:C1839279 hp.json http://purl.obolibrary.org/obo/HP_0008416 HP:0008410 biolink:PhenotypicFeature Subungual hyperkeratotic fragments UMLS:C1852311 hp.json http://purl.obolibrary.org/obo/HP_0008410 UBERON:0001611 biolink:AnatomicalEntity sublingual artery A branch of the lingual artery that supplies the sublingual gland. MA:0002049|NCIT:C53002|EMAPA:37115|AAO:0010491|UMLS:C0226106|FMA:49543 hp.json arteria sublingualis|sublingual branch of lingual artery http://purl.obolibrary.org/obo/UBERON_0001611 human_reference_atlas|uberon_slim UBERON:0001610 biolink:AnatomicalEntity lingual artery The lingual artery arises from the external carotid between the superior thyroid and facial artery[WP]. OpenCyc:Mx4rvfqDCZwpEbGdrcN5Y29ycA|MA:0001992|SCTID:181327002|UMLS:C0226104|FMA:49526|AAO:0010492|EMAPA:36324|Wikipedia:Lingual_artery|NCIT:C52961 hp.json arteria lingualis|lingual branch of external carotid artery|arteria lingualis http://purl.obolibrary.org/obo/UBERON_0001610 human_reference_atlas|uberon_slim dcterms:license biolink:NamedThing license http://purl.org/dc/terms/license hp.json http://purl.org/dc/terms/license HGNC:441 biolink:Gene ALPG (human) A protein coding gene ALPG in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=441 HP:0008425 biolink:PhenotypicFeature Cuboid-shaped thoracolumbar vertebral bodies UMLS:C1855289 hp.json http://purl.obolibrary.org/obo/HP_0008425 HP:0008428 biolink:PhenotypicFeature Vertebral clefting Schisis (cleft or cleavage) of vertebral bodies. UMLS:C1855828 hp.json Vertebral clefts http://purl.obolibrary.org/obo/HP_0008428 HP:0008422 biolink:PhenotypicFeature Vertebral wedging An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. UMLS:C1695776 hp.json Wedge-shaped vertebrae|anterior wedging|Wedged vertebrae http://purl.obolibrary.org/obo/HP_0008422 HP:0008421 biolink:PhenotypicFeature Tall lumbar vertebral bodies UMLS:C1863313 hp.json http://purl.obolibrary.org/obo/HP_0008421 UBERON:0001600 biolink:AnatomicalEntity tensor tympani The larger of the two muscles of the tympanic cavity, is contained in the bony canal above the osseous portion of the auditory tube. Its role is to dampen sounds produced from chewing. It arises from the cartilaginous portion of the auditory tube and the adjoining part of the great wing of the sphenoid, as well as from the osseous canal in which it is contained. Passing backward through the canal, it ends in a slender tendon which enters the tympanic cavity, makes a sharp bend around the extremity of the septum, known as the processus cochleariformis[1], and is inserted into the manubrium of the malleus, near its root[WP]. EMAPA:18587|UMLS:C0039529|GAID:166|MA:0001221|EHDAA:10167|EHDAA2:0002002|VHOG:0000698|MESH:D013719|NCIT:C33748|FMA:49028|EHDAA:10191 hp.json M. tensor tympani|eustachian muscle|tensor tympani muscle|tympanic muscle|musculus tensor tympani http://purl.obolibrary.org/obo/UBERON_0001600 uberon_slim HP:0008424 biolink:PhenotypicFeature Hypoplastic 5th lumbar vertebrae UMLS:C1859366 hp.json Underdeveloped 5th lumbar vertebrae http://purl.obolibrary.org/obo/HP_0008424 HP:0008423 biolink:PhenotypicFeature Spinal dysplasia The presence of developmental dysplasia of the vertebral column. UMLS:C4021853 hp.json http://purl.obolibrary.org/obo/HP_0008423 HP:0008420 biolink:PhenotypicFeature Punctate vertebral calcifications The presence of punctiform calcification of the bone of the vertebral bodies. UMLS:C4024678 hp.json http://purl.obolibrary.org/obo/HP_0008420 GO:1903867 biolink:BiologicalProcess extraembryonic membrane development The process whose specific outcome is the progression of an extraembryonic membrane over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_1903867 GO:1901202 biolink:BiologicalProcess negative regulation of extracellular matrix assembly Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix assembly. hp.json down-regulation of extracellular matrix assembly|down regulation of extracellular matrix assembly|downregulation of extracellular matrix assembly|inhibition of extracellular matrix assembly http://purl.obolibrary.org/obo/GO_1901202 GO:1901203 biolink:BiologicalProcess positive regulation of extracellular matrix assembly Any process that activates or increases the frequency, rate or extent of extracellular matrix assembly. hp.json up regulation of extracellular matrix assembly|activation of extracellular matrix assembly|upregulation of extracellular matrix assembly|up-regulation of extracellular matrix assembly http://purl.obolibrary.org/obo/GO_1901203 GO:1901201 biolink:BiologicalProcess regulation of extracellular matrix assembly Any process that modulates the frequency, rate or extent of extracellular matrix assembly. hp.json http://purl.obolibrary.org/obo/GO_1901201 PR:Q15848 biolink:Protein adiponectin (human) An adiponectin that is encoded in the genome of human. UniProtKB:Q15848 hp.json apM-1 (human)|ACDC|gelatin-binding protein (human)|adipocyte complement-related 30 kDa protein (human)|ACRP30|ADIPOQ|adipocyte, C1q and collagen domain-containing protein (human)|GBP28|adipose most abundant gene transcript 1 protein (human)|30 kDa adipocyte complement-related protein (human)|APM1|hADIPOQ http://purl.obolibrary.org/obo/PR_Q15848 GO:1901219 biolink:BiologicalProcess regulation of cardiac chamber morphogenesis Any process that modulates the frequency, rate or extent of cardiac chamber morphogenesis. hp.json regulation of heart chamber morphogenesis http://purl.obolibrary.org/obo/GO_1901219 GO:1901215 biolink:BiologicalProcess negative regulation of neuron death Any process that stops, prevents or reduces the frequency, rate or extent of neuron death. hp.json down regulation of neuronal cell death|inhibition of neuron death|negative regulation of neuron cell death|down-regulation of neuron death|down-regulation of neuron cell death|inhibition of neuronal cell death|downregulation of neuronal cell death|down regulation of neuron cell death|inhibition of neuron cell death|downregulation of neuron cell death|downregulation of neuron death|negative regulation of neuronal cell death|down-regulation of neuronal cell death|down regulation of neuron death http://purl.obolibrary.org/obo/GO_1901215 GO:1901216 biolink:BiologicalProcess positive regulation of neuron death Any process that activates or increases the frequency, rate or extent of neuron death. hp.json upregulation of neuron cell death|upregulation of neuron death|up-regulation of neuronal cell death|up regulation of neuronal cell death|up regulation of neuron death|activation of neuronal cell death|up-regulation of neuron cell death|positive regulation of neuronal cell death|up-regulation of neuron death|up regulation of neuron cell death|activation of neuron death|upregulation of neuronal cell death|positive regulation of neuron cell death|activation of neuron cell death http://purl.obolibrary.org/obo/GO_1901216 GO:1901214 biolink:BiologicalProcess regulation of neuron death Any process that modulates the frequency, rate or extent of neuron death. hp.json regulation of neuronal cell death|regulation of neuron cell death http://purl.obolibrary.org/obo/GO_1901214 GO:1901211 biolink:BiologicalProcess negative regulation of cardiac chamber formation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac chamber formation. hp.json downregulation of cardiac chamber formation|down regulation of heart chamber formation|downregulation of heart chamber formation|down-regulation of cardiac chamber formation|inhibition of heart chamber formation|down regulation of cardiac chamber formation|negative regulation of heart chamber formation|down-regulation of heart chamber formation|inhibition of cardiac chamber formation http://purl.obolibrary.org/obo/GO_1901211 GO:1901212 biolink:BiologicalProcess positive regulation of cardiac chamber formation Any process that activates or increases the frequency, rate or extent of cardiac chamber formation. hp.json up-regulation of cardiac chamber formation|up regulation of cardiac chamber formation|activation of cardiac chamber formation|up-regulation of heart chamber formation|up regulation of heart chamber formation|upregulation of cardiac chamber formation|positive regulation of heart chamber formation|upregulation of heart chamber formation|activation of heart chamber formation http://purl.obolibrary.org/obo/GO_1901212 GO:1901210 biolink:BiologicalProcess regulation of cardiac chamber formation Any process that modulates the frequency, rate or extent of cardiac chamber formation. hp.json regulation of heart chamber formation http://purl.obolibrary.org/obo/GO_1901210 GO:1901220 biolink:BiologicalProcess negative regulation of cardiac chamber morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of cardiac chamber morphogenesis. hp.json downregulation of heart chamber morphogenesis|inhibition of heart chamber morphogenesis|down-regulation of cardiac chamber morphogenesis|down regulation of cardiac chamber morphogenesis|negative regulation of heart chamber morphogenesis|down-regulation of heart chamber morphogenesis|downregulation of cardiac chamber morphogenesis|inhibition of cardiac chamber morphogenesis|down regulation of heart chamber morphogenesis http://purl.obolibrary.org/obo/GO_1901220 GO:1901221 biolink:BiologicalProcess positive regulation of cardiac chamber morphogenesis Any process that activates or increases the frequency, rate or extent of cardiac chamber morphogenesis. hp.json up regulation of cardiac chamber morphogenesis|activation of cardiac chamber morphogenesis|up-regulation of heart chamber morphogenesis|up regulation of heart chamber morphogenesis|activation of heart chamber morphogenesis|upregulation of cardiac chamber morphogenesis|positive regulation of heart chamber morphogenesis|upregulation of heart chamber morphogenesis|up-regulation of cardiac chamber morphogenesis http://purl.obolibrary.org/obo/GO_1901221 GO:0009084 biolink:BiologicalProcess glutamine family amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. hp.json glutamine family amino acid synthesis|glutamine family amino acid formation|glutamine family amino acid anabolism|glutamine family amino acid biosynthesis http://purl.obolibrary.org/obo/GO_0009084 GO:0009081 biolink:BiologicalProcess branched-chain amino acid metabolic process The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine. hp.json branched chain family amino acid metabolism http://purl.obolibrary.org/obo/GO_0009081 GO:0061695 biolink:CellularComponent transferase complex, transferring phosphorus-containing groups A transferase complex capable of catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). hp.json http://purl.obolibrary.org/obo/GO_0061695 GO:0061696 biolink:CellularComponent pituitary gonadotropin complex A protein complex that is a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. capable of regulating normal growth, sexual development, and reproductive function. hp.json http://purl.obolibrary.org/obo/GO_0061696 GO:0010070 biolink:BiologicalProcess zygote asymmetric cell division The division of the zygote into two daughter cells that will adopt developmentally distinct potentials. hp.json zygote asymmetric cytokinesis http://purl.obolibrary.org/obo/GO_0010070 GO:0022032 biolink:BiologicalProcess telencephalon oligodendrocyte cell migration The multiplication or reproduction of telencephalon oligodendrocyte cells, resulting in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/GO_0022032 UBERON:0035083 biolink:AnatomicalEntity transverse process-bearing vertebra A vertebra that has a transverse process. hp.json pygal vertebra|TP vertebra http://purl.obolibrary.org/obo/UBERON_0035083 GO:0022035 biolink:BiologicalProcess rhombomere cell migration The movement of a cell within a rhombomere. This process is known to occur as an early step in the generation of anatomical structure from a rhombomere. hp.json http://purl.obolibrary.org/obo/GO_0022035 GO:0022037 biolink:BiologicalProcess metencephalon development The process whose specific outcome is the progression of the metencephalon over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0022037 GO:1901248 biolink:BiologicalProcess positive regulation of lung ciliated cell differentiation Any process that activates or increases the frequency, rate or extent of lung ciliated cell differentiation. hp.json upregulation of lung ciliated cell differentiation|up regulation of lung ciliated cell differentiation|up-regulation of lung ciliated cell differentiation|activation of lung ciliated cell differentiation http://purl.obolibrary.org/obo/GO_1901248 GO:1901246 biolink:BiologicalProcess regulation of lung ciliated cell differentiation Any process that modulates the frequency, rate or extent of lung ciliated cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_1901246 GO:1901247 biolink:BiologicalProcess negative regulation of lung ciliated cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of lung ciliated cell differentiation. hp.json down-regulation of lung ciliated cell differentiation|downregulation of lung ciliated cell differentiation|down regulation of lung ciliated cell differentiation|inhibition of lung ciliated cell differentiation http://purl.obolibrary.org/obo/GO_1901247 GO:0009059 biolink:BiologicalProcess macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. hp.json macromolecule synthesis|macromolecule formation|biopolymer biosynthetic process|macromolecule biosynthesis|macromolecule anabolism http://purl.obolibrary.org/obo/GO_0009059 goslim_pir GO:0009058 biolink:BiologicalProcess biosynthetic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. Wikipedia:Anabolism hp.json anabolism|multicellular organismal biosynthetic process|formation|synthesis|single-organism biosynthetic process|biosynthesis http://purl.obolibrary.org/obo/GO_0009058 goslim_plant|goslim_chembl|goslim_metagenomics GO:0009057 biolink:NamedThing macromolecule catabolic process hp.json http://purl.obolibrary.org/obo/GO_0009057 GO:0009056 biolink:BiologicalProcess catabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. Wikipedia:Catabolism hp.json degradation|breakdown|single-organism catabolic process|catabolism|multicellular organismal catabolic process http://purl.obolibrary.org/obo/GO_0009056 goslim_plant|goslim_chembl|goslim_agr GO:0022030 biolink:BiologicalProcess telencephalon glial cell migration The orderly movement of glial cells through the telencephalon. hp.json http://purl.obolibrary.org/obo/GO_0022030 GO:0009064 biolink:BiologicalProcess glutamine family amino acid metabolic process The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. hp.json glutamine family amino acid metabolism http://purl.obolibrary.org/obo/GO_0009064 UBERON:0035091 biolink:AnatomicalEntity extrinsic post-anal tail muscle A post-anal tail that attaches outside the tail. hp.json http://purl.obolibrary.org/obo/UBERON_0035091 UBERON:0035096 biolink:AnatomicalEntity fascia of tail hp.json http://purl.obolibrary.org/obo/UBERON_0035096 UBERON:0035097 biolink:AnatomicalEntity iliocaudalis muscle A muscle that attaches to the iliac crest and to a caudal vertebra. hp.json iliocaudalis|M. iliocaudalis http://purl.obolibrary.org/obo/UBERON_0035097 GO:0009069 biolink:BiologicalProcess serine family amino acid metabolic process The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. hp.json serine family amino acid metabolism http://purl.obolibrary.org/obo/GO_0009069 GO:0009066 biolink:BiologicalProcess aspartate family amino acid metabolic process The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. hp.json aspartate family amino acid metabolism http://purl.obolibrary.org/obo/GO_0009066 GO:0009072 biolink:BiologicalProcess aromatic amino acid family metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). hp.json aromatic amino acid family metabolism http://purl.obolibrary.org/obo/GO_0009072 GO:0022029 biolink:BiologicalProcess telencephalon cell migration The orderly movement of a cell from one site to another at least one of which is located in the telencephalon. hp.json http://purl.obolibrary.org/obo/GO_0022029 GO:0022010 biolink:BiologicalProcess central nervous system myelination The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of oligodendrocytes in the central nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. hp.json myelination in central nervous system http://purl.obolibrary.org/obo/GO_0022010 GO:0022011 biolink:BiologicalProcess myelination in peripheral nervous system The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. hp.json peripheral nervous system myelination http://purl.obolibrary.org/obo/GO_0022011 GO:1901264 biolink:BiologicalProcess carbohydrate derivative transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_1901264 HGNC:399 biolink:Gene ALB (human) A protein coding gene ALB in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=399 GO:0010039 biolink:BiologicalProcess response to iron ion Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an iron ion stimulus. hp.json response to iron http://purl.obolibrary.org/obo/GO_0010039 GO:0010032 biolink:BiologicalProcess meiotic chromosome condensation Compaction of chromatin structure prior to meiosis in eukaryotic cells. hp.json chromosome condensation involved in meiotic cell cycle http://purl.obolibrary.org/obo/GO_0010032 GO:0010033 biolink:BiologicalProcess response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. hp.json process resulting in tolerance to organic substance http://purl.obolibrary.org/obo/GO_0010033 GO:0010035 biolink:BiologicalProcess response to inorganic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an inorganic substance stimulus. hp.json http://purl.obolibrary.org/obo/GO_0010035 GO:0010038 biolink:BiologicalProcess response to metal ion Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metal ion stimulus. hp.json response to metal|response to heavy metal|heavy metal sensitivity/resistance http://purl.obolibrary.org/obo/GO_0010038 GO:0022008 biolink:BiologicalProcess neurogenesis Generation of cells within the nervous system. Wikipedia:Neurogenesis hp.json neural cell differentiation|nervous system cell generation http://purl.obolibrary.org/obo/GO_0022008 GO:0022009 biolink:BiologicalProcess central nervous system vasculogenesis The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes in the central nervous system. The capillary endothelial cells in the brain are specialized to form the blood-brain barrier. hp.json http://purl.obolibrary.org/obo/GO_0022009 UBERON:0035045 biolink:AnatomicalEntity parotid gland intralobular duct Any of the tubular canals of the parotid gland located within the parenchymal (secretory) tissue i.e. within lobules; both intercalated and striated (secretory) ducts are intralobular ducts. hp.json http://purl.obolibrary.org/obo/UBERON_0035045 CHEBI:63571 biolink:ChemicalSubstance trisaccharide derivative An oligosaccharide derivative that is formally obtained from a trisaccharide. hp.json trisaccharide derivatives http://purl.obolibrary.org/obo/CHEBI_63571 3_STAR UBERON:0035049 biolink:AnatomicalEntity excretory duct of salivary gland Any of the interlobular excretory ducts of a salivary gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts[MP,generalized]. FMA:60052 hp.json http://purl.obolibrary.org/obo/UBERON_0035049 UBERON:0035048 biolink:AnatomicalEntity parotid gland excretory duct Any of the interlobular excretory ducts of the parotid gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts; ultimately, the excretory ducts of the parotid gland coalesce and form a single main excretory duct (Stensen's duct) that opens into the oral cavity; excretory ducts do not change the secretory product. hp.json http://purl.obolibrary.org/obo/UBERON_0035048 GO:0048628 biolink:BiologicalProcess myoblast maturation A developmental process, independent of morphogenetic (shape) change, that is required for a myoblast to attain its fully functional state. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. hp.json http://purl.obolibrary.org/obo/GO_0048628 GO:0048627 biolink:BiologicalProcess myoblast development The process whose specific outcome is the progression of the myoblast over time, from its formation to the mature structure. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. hp.json http://purl.obolibrary.org/obo/GO_0048627 UBERON:0035050 biolink:AnatomicalEntity excretory duct hp.json http://purl.obolibrary.org/obo/UBERON_0035050 HP:0430009 biolink:PhenotypicFeature Hypoplasia of eyelid Developmental hypoplasia of the eyelid. UMLS:C4280274|SNOMEDCT_US:204203001|UMLS:C0344499 hp.json Hypoplasia of the eyelid|Decreased size of eyelid|Small eyelid|Underdevelopment of eyelid|Short eyelid|Hypoplastic eyelid http://purl.obolibrary.org/obo/HP_0430009 HP:0430008 biolink:PhenotypicFeature Accessory eyelid The presence of more than the normal number of eyelids. UMLS:C4280275|SNOMEDCT_US:24606006|UMLS:C0266576 hp.json Double eyelid|Extra eyelid http://purl.obolibrary.org/obo/HP_0430008 UBERON:0035053 biolink:AnatomicalEntity interlobular duct of salivary gland FMA:60053 hp.json http://purl.obolibrary.org/obo/UBERON_0035053 GO:0048636 biolink:BiologicalProcess positive regulation of muscle organ development Any process that activates, maintains or increases the rate of muscle development. hp.json up regulation of muscle development|stimulation of muscle development|up-regulation of muscle development|activation of muscle development|upregulation of muscle development http://purl.obolibrary.org/obo/GO_0048636 GO:0048635 biolink:BiologicalProcess negative regulation of muscle organ development Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development. hp.json downregulation of muscle development|down regulation of muscle development|inhibition of muscle development|down-regulation of muscle development http://purl.obolibrary.org/obo/GO_0048635 GO:0048634 biolink:BiologicalProcess regulation of muscle organ development Any process that modulates the frequency, rate or extent of muscle development. hp.json http://purl.obolibrary.org/obo/GO_0048634 GO:0048633 biolink:BiologicalProcess positive regulation of skeletal muscle tissue growth Any process that activates, maintains or increases the rate of skeletal muscle growth. hp.json up-regulation of skeletal muscle growth|activation of skeletal muscle growth|upregulation of skeletal muscle growth|up regulation of skeletal muscle growth|stimulation of skeletal muscle growth http://purl.obolibrary.org/obo/GO_0048633 GO:0048632 biolink:BiologicalProcess negative regulation of skeletal muscle tissue growth Any process that stops, prevents, or reduces the frequency, rate or extent of skeletal muscle growth. hp.json downregulation of skeletal muscle growth|down regulation of skeletal muscle growth|inhibition of skeletal muscle growth|down-regulation of skeletal muscle growth http://purl.obolibrary.org/obo/GO_0048632 GO:0048631 biolink:BiologicalProcess regulation of skeletal muscle tissue growth Any process that modulates the frequency, rate or extent of skeletal muscle growth. hp.json http://purl.obolibrary.org/obo/GO_0048631 GO:0048630 biolink:BiologicalProcess skeletal muscle tissue growth The increase in size or mass of a skeletal muscle. This may be due to a change in the fiber number or size. hp.json http://purl.obolibrary.org/obo/GO_0048630 GO:0048639 biolink:BiologicalProcess positive regulation of developmental growth Any process that activates, maintains or increases the rate of developmental growth. hp.json up-regulation of developmental growth|activation of developmental growth|upregulation of developmental growth|up regulation of developmental growth|stimulation of developmental growth http://purl.obolibrary.org/obo/GO_0048639 GO:0048638 biolink:BiologicalProcess regulation of developmental growth Any process that modulates the frequency, rate or extent of developmental growth. hp.json http://purl.obolibrary.org/obo/GO_0048638 HP:0430007 biolink:PhenotypicFeature Symblepharon A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. UMLS:C0152454|SNOMEDCT_US:90216006 hp.json Eyelid stuck to eyeball|Eyelid adhesion to globe of eye http://purl.obolibrary.org/obo/HP_0430007 HP:0430006 biolink:PhenotypicFeature Ectopic cilia of eyelid An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. SNOMEDCT_US:95504004|UMLS:C0521574 hp.json http://purl.obolibrary.org/obo/HP_0430006 HP:0430005 biolink:PhenotypicFeature Abnormal ethmoid bone morphology An abnormality of the ethmoid bone UMLS:C4021869 hp.json Malformation of the ethmoid bone|Deformity of the ethmoid bone|Abnormality of ethmoid bone|Anomaly of the ethmoid bone http://purl.obolibrary.org/obo/HP_0430005 HP:0430004 biolink:PhenotypicFeature Frontomalar faciosynostosis UMLS:C4021870 hp.json http://purl.obolibrary.org/obo/HP_0430004 HP:0430003 biolink:PhenotypicFeature Abnormal palatine bone morphology An abnormality of the palatine bone. UMLS:C4021871 hp.json Malformation of the palatine bone|Deformity of the palatine bone|Anomaly of the palatine bone|Abnormality of the palatine bone http://purl.obolibrary.org/obo/HP_0430003 HP:0430002 biolink:PhenotypicFeature Abnormal lacrimal bone morphology An abnormality of the lacrimal bone. UMLS:C4021872 hp.json Deformity of the lacrimal bone|Malformation of the lacrimal bone|Anomaly of the lacrimal bone http://purl.obolibrary.org/obo/HP_0430002 HP:0430000 biolink:PhenotypicFeature Abnormal frontal bone morphology An abnormality of the frontal bone. UMLS:C4021873 hp.json Abnormal morphology of frontal bone|Abnormality of the frontal bone|Abnormality of the bone of the forehead|Anomaly of the frontal bone|Malformation of the frontal bone|Deformity of the frontal bone http://purl.obolibrary.org/obo/HP_0430000 GO:0048640 biolink:BiologicalProcess negative regulation of developmental growth Any process that stops, prevents, or reduces the frequency, rate or extent of developmental growth. hp.json down regulation of developmental growth|inhibition of developmental growth|down-regulation of developmental growth|downregulation of developmental growth http://purl.obolibrary.org/obo/GO_0048640 UBERON:0011050 biolink:AnatomicalEntity thoracic vertebra 8 The eighth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. FMA:9991|UMLS:C0459953|EMAPA:19549|MA:0001445|NCIT:C33730 hp.json eighth dorsal vertebra|T8 vertebra|eighth thoracic vertebra http://purl.obolibrary.org/obo/UBERON_0011050 GO:0048646 biolink:BiologicalProcess anatomical structure formation involved in morphogenesis The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. hp.json formation of an anatomical structure involved in morphogenesis http://purl.obolibrary.org/obo/GO_0048646 goslim_chembl GO:0048645 biolink:BiologicalProcess animal organ formation The process pertaining to the initial formation of an animal organ from unspecified parts. The process begins with the specific processes that contribute to the appearance of the discrete structure, such as inductive events, and ends when the structural rudiment of the organ is recognizable, such as a condensation of mesenchymal cells into the organ rudiment. Organs are a natural part or structure in an animal or a plant, capable of performing some special action (termed its function), which is essential to the life or well-being of the whole. The heart and lungs are organs of animals, and the petal and leaf are organs of plants. In animals the organs are generally made up of several tissues, one of which usually predominates, and determines the principal function of the organ. hp.json initiation of an animal organ primordium|animal organ primordium initiation http://purl.obolibrary.org/obo/GO_0048645 GO:0048644 biolink:BiologicalProcess muscle organ morphogenesis The process in which the anatomical structures of muscle are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0048644 GO:0048643 biolink:BiologicalProcess positive regulation of skeletal muscle tissue development Any process that activates, maintains or increases the rate of skeletal muscle tissue development. hp.json up-regulation of skeletal muscle development|up regulation of skeletal muscle development|activation of skeletal muscle development|stimulation of skeletal muscle development|upregulation of skeletal muscle development http://purl.obolibrary.org/obo/GO_0048643 GO:0048642 biolink:BiologicalProcess negative regulation of skeletal muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of skeletal muscle tissue development. hp.json down regulation of skeletal muscle development|inhibition of skeletal muscle development|downregulation of skeletal muscle development|down-regulation of skeletal muscle development http://purl.obolibrary.org/obo/GO_0048642 GO:0048641 biolink:BiologicalProcess regulation of skeletal muscle tissue development Any process that modulates the frequency, rate or extent of skeletal muscle tissue development. hp.json http://purl.obolibrary.org/obo/GO_0048641 GO:0061626 biolink:BiologicalProcess pharyngeal arch artery morphogenesis The process in which the anatomical structures of a pharyngeal arch artery is generated and organized. The pharyngeal arch arteries are a series of six paired embryological vascular structures, the development of which give rise to several major arteries, such as the stapedial artery, the middle meningeal artery, the internal carotid artery and the pulmonary artery. hp.json aortic arch artery morphogenesis http://purl.obolibrary.org/obo/GO_0061626 GO:0061629 biolink:MolecularActivity RNA polymerase II-specific DNA-binding transcription factor binding Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. hp.json RNA polymerase II activating transcription factor binding|RNA polymerase II transcription factor binding|RNA polymerase II repressing transcription factor binding|RNA polymerase II sequence-specific DNA binding transcription factor binding|RNA polymerase II sequence-specific DNA-binding transcription factor binding http://purl.obolibrary.org/obo/GO_0061629 UBERON:0035074 biolink:AnatomicalEntity duct of apocrine sweat gland FMA:70643 hp.json ductal part of apocrine sweat gland http://purl.obolibrary.org/obo/UBERON_0035074 UBERON:0035073 biolink:AnatomicalEntity duct of eccrine sweat gland FMA:70617 hp.json ductal part of eccrine sweat gland http://purl.obolibrary.org/obo/UBERON_0035073 UBERON:0035075 biolink:AnatomicalEntity thymus subunit FMA:71193 hp.json lobe or lobule of thymus http://purl.obolibrary.org/obo/UBERON_0035075 GO:0048659 biolink:BiologicalProcess smooth muscle cell proliferation The multiplication or reproduction of smooth muscle cells, resulting in the expansion of a cell population. hp.json SMC proliferation http://purl.obolibrary.org/obo/GO_0048659 UBERON:0035078 biolink:AnatomicalEntity parotid gland interlobular duct Any of the excretory ducts of the parotid gland which are found in the connective tissue septa i.e. between lobules. hp.json http://purl.obolibrary.org/obo/UBERON_0035078 PR:000049996 biolink:Protein active alpha-amylase isozyme (human) An active alpha-amylase isozyme that is encoded in the genome of human. hp.json fam:hAMY http://purl.obolibrary.org/obo/PR_000049996 PR:000049995 biolink:Protein active alpha-amylase isozyme A protein that has alpha-amylase activity. hp.json fam:AMY http://purl.obolibrary.org/obo/PR_000049995 GO:0048662 biolink:BiologicalProcess negative regulation of smooth muscle cell proliferation Any process that stops, prevents or reduces the rate or extent of smooth muscle cell proliferation. hp.json down regulation of smooth muscle cell proliferation|inhibition of smooth muscle cell proliferation|down-regulation of smooth muscle cell proliferation|negative regulation of SMC proliferation|downregulation of smooth muscle cell proliferation http://purl.obolibrary.org/obo/GO_0048662 GO:0048661 biolink:BiologicalProcess positive regulation of smooth muscle cell proliferation Any process that activates or increases the rate or extent of smooth muscle cell proliferation. hp.json positive regulation of SMC proliferation|upregulation of smooth muscle cell proliferation|up regulation of smooth muscle cell proliferation|stimulation of smooth muscle cell proliferation|up-regulation of smooth muscle cell proliferation|activation of smooth muscle cell proliferation http://purl.obolibrary.org/obo/GO_0048661 GO:1903829 biolink:BiologicalProcess positive regulation of protein localization Any process that activates or increases the frequency, rate or extent of a protein localization. hp.json up-regulation of cellular protein localisation|upregulation of cellular protein localization|up regulation of cellular protein localisation|positive regulation of cellular protein localisation|up-regulation of cellular protein localization|upregulation of cellular protein localisation|up regulation of cellular protein localization|positive regulation of cellular protein localization http://purl.obolibrary.org/obo/GO_1903829 GO:0048660 biolink:BiologicalProcess regulation of smooth muscle cell proliferation Any process that modulates the frequency, rate or extent of smooth muscle cell proliferation. hp.json regulation of SMC proliferation http://purl.obolibrary.org/obo/GO_0048660 HP:0033361 biolink:PhenotypicFeature Nasal ulcer An open sore of the nasal mucosa. hp.json http://purl.obolibrary.org/obo/HP_0033361 HP:0033360 biolink:PhenotypicFeature Impaired ability to shift attention A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible. hp.json Impaired task shifting http://purl.obolibrary.org/obo/HP_0033360 GO:1903828 biolink:BiologicalProcess negative regulation of protein localization Any process that stops, prevents or reduces the frequency, rate or extent of a protein localization. hp.json inhibition of cellular protein localisation|down-regulation of cellular protein localization|downregulation of cellular protein localisation|negative regulation of cellular protein localization|down regulation of cellular protein localization|inhibition of cellular protein localization|downregulation of cellular protein localization|negative regulation of cellular protein localisation|down-regulation of cellular protein localisation|down regulation of cellular protein localisation http://purl.obolibrary.org/obo/GO_1903828 GO:1903825 biolink:BiologicalProcess organic acid transmembrane transport The process in which an organic acid is transported across a membrane. hp.json http://purl.obolibrary.org/obo/GO_1903825 HP:0033367 biolink:PhenotypicFeature Orthodeoxia Low level of blood oxygen induced by changing from a recumbent to an upright position. hp.json http://purl.obolibrary.org/obo/HP_0033367 HP:0033366 biolink:PhenotypicFeature Exogenous lipoid pneumonia A type of lipoid pneumonia in which the source of the lipids is external to the body. hp.json http://purl.obolibrary.org/obo/HP_0033366 GO:0046005 biolink:BiologicalProcess positive regulation of circadian sleep/wake cycle, REM sleep Any process that activates or increases the duration or quality of rapid eye movement (REM) sleep. hp.json up-regulation of circadian sleep/wake cycle, REM sleep|up regulation of circadian sleep/wake cycle, REM sleep|activation of circadian sleep/wake cycle, REM sleep|stimulation of circadian sleep/wake cycle, REM sleep|upregulation of circadian sleep/wake cycle, REM sleep|positive regulation of REM sleep http://purl.obolibrary.org/obo/GO_0046005 HP:0033369 biolink:PhenotypicFeature Cavitating leukodystrophy A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity. hp.json http://purl.obolibrary.org/obo/HP_0033369 GO:0048667 biolink:BiologicalProcess cell morphogenesis involved in neuron differentiation The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron. hp.json neuron morphogenesis involved in differentiation http://purl.obolibrary.org/obo/GO_0048667 HP:0033368 biolink:PhenotypicFeature Platypnea A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position. hp.json http://purl.obolibrary.org/obo/HP_0033368 GO:0048666 biolink:BiologicalProcess neuron development The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. hp.json http://purl.obolibrary.org/obo/GO_0048666 HP:0033363 biolink:PhenotypicFeature Hyaline membranes Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. hp.json http://purl.obolibrary.org/obo/HP_0033363 UBERON:0035005 biolink:AnatomicalEntity preputial swelling of male EMAPA:29220 hp.json prepuce of male http://purl.obolibrary.org/obo/UBERON_0035005 HP:0033362 biolink:PhenotypicFeature Recurrent coughing spasms Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing. hp.json http://purl.obolibrary.org/obo/HP_0033362 UBERON:0035004 biolink:AnatomicalEntity preputial swelling EMAPA:35702 hp.json http://purl.obolibrary.org/obo/UBERON_0035004 HP:0033365 biolink:PhenotypicFeature Endogenous lipoid pneumonia A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace. hp.json http://purl.obolibrary.org/obo/HP_0033365 HP:0033364 biolink:PhenotypicFeature Lipoid pneumonia A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid. hp.json http://purl.obolibrary.org/obo/HP_0033364 UBERON:0035006 biolink:AnatomicalEntity preputial swelling of female EMAPA:30478 hp.json prepuce of female http://purl.obolibrary.org/obo/UBERON_0035006 CL:1001588 biolink:Cell colon glandular cell Glandular cell of colon epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells. CALOHA:TS-1274 hp.json colon glandular cells http://purl.obolibrary.org/obo/CL_1001588 GO:0034097 biolink:BiologicalProcess response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. hp.json response to cytokine stimulus http://purl.obolibrary.org/obo/GO_0034097 HP:0033370 biolink:PhenotypicFeature Bronchial telangiectasia Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system. hp.json Endobronchial telangiectasia http://purl.obolibrary.org/obo/HP_0033370 HP:0033372 biolink:PhenotypicFeature Abnormal KCO Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O. hp.json http://purl.obolibrary.org/obo/HP_0033372 HP:0033371 biolink:PhenotypicFeature Bronchocentric granulomatosis Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen. hp.json http://purl.obolibrary.org/obo/HP_0033371 HP:0033378 biolink:PhenotypicFeature Increased airway neuroepithelial bodies Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts. hp.json http://purl.obolibrary.org/obo/HP_0033378 HP:0033377 biolink:PhenotypicFeature Increased airway neuroendocrine cells Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs). hp.json http://purl.obolibrary.org/obo/HP_0033377 GO:1903831 biolink:BiologicalProcess signal transduction involved in cellular response to ammonium ion Any signal transduction that is involved in cellular response to ammonium ion. hp.json signalling cascade involved in cellular response to ammonium ion|signaling cascade involved in cellular response to ammonium ion|signalling pathway involved in cellular response to ammonium ion|signaling pathway involved in cellular response to ammonium ion http://purl.obolibrary.org/obo/GO_1903831 HP:0033379 biolink:PhenotypicFeature Bilateral superior vena cava The presence of a left and a right superior vena cava. hp.json Bilateral SVC http://purl.obolibrary.org/obo/HP_0033379 GO:0046014 biolink:BiologicalProcess negative regulation of T cell homeostatic proliferation Any process that stops, prevents or reduces the rate or extent of resting T cell proliferation. hp.json negative regulation of T-lymphocyte homeostatic proliferation|downregulation of T cell homeostatic proliferation|negative regulation of resting T cell proliferation|down regulation of T cell homeostatic proliferation|inhibition of T cell homeostatic proliferation|down-regulation of T cell homeostatic proliferation|negative regulation of T-cell homeostatic proliferation|negative regulation of T lymphocyte homeostatic proliferation http://purl.obolibrary.org/obo/GO_0046014 HP:0033374 biolink:PhenotypicFeature Decreased KCO Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). hp.json http://purl.obolibrary.org/obo/HP_0033374 HP:0033373 biolink:PhenotypicFeature Increased KCO Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). hp.json http://purl.obolibrary.org/obo/HP_0033373 HP:0033376 biolink:PhenotypicFeature Alveolar septal thickening Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology. hp.json http://purl.obolibrary.org/obo/HP_0033376 CL:1001579 biolink:Cell cerebral cortex glial cell Glial cell of cerebral cortex. CALOHA:TS-1256 hp.json cerebral cortex glial cells|cerebrum cortex glial cell|brain cortex glial cell http://purl.obolibrary.org/obo/CL_1001579 GO:0046013 biolink:BiologicalProcess regulation of T cell homeostatic proliferation Any process that modulates the frequency, rate or extent of resting T cell proliferation. hp.json regulation of resting T cell proliferation|regulation of T-cell homeostatic proliferation|regulation of T lymphocyte homeostatic proliferation|regulation of T-lymphocyte homeostatic proliferation http://purl.obolibrary.org/obo/GO_0046013 HP:0033375 biolink:PhenotypicFeature Anthracosis Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers. hp.json http://purl.obolibrary.org/obo/HP_0033375 CL:1001576 biolink:Cell oral mucosa squamous cell Squamous cell of oral epithelium. CALOHA:TS-1252 hp.json oral mucosa squamous epithelial cell|oral cavity mucosa squamous epithelial cell|oral mucosa squamous epithelial cells|oral cavity mucosa squamous cell http://purl.obolibrary.org/obo/CL_1001576 CL:1001572 biolink:Cell colon endothelial cell A vascular endothelial cell found in colon blood vessels. CALOHA:TS-2397 hp.json colon endothelial cells|colonic endothelial cell http://purl.obolibrary.org/obo/CL_1001572 UBERON:0011092 biolink:AnatomicalEntity right pelvic girdle region A pelvic girdle region that is in the right side of a multicellular organism. FMA:16582 hp.json right pelvic girdle http://purl.obolibrary.org/obo/UBERON_0011092 HP:0033381 biolink:PhenotypicFeature Elevated circulating stearoylcarnitine concentration Abnormally increased concentration of O-stearoylcarnitine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033381 UBERON:0011091 biolink:AnatomicalEntity skeleton of left pelvic girdle A skeleton of pelvic girdle that is part of a left pelvic girdle region. FMA:87594 hp.json http://purl.obolibrary.org/obo/UBERON_0011091 HP:0033380 biolink:PhenotypicFeature Nasal chondritis Inflammation of the cartilage of the nose. hp.json Nose chondritis http://purl.obolibrary.org/obo/HP_0033380 UBERON:0011090 biolink:AnatomicalEntity skeleton of right pelvic girdle A skeleton of pelvic girdle that is part of a right pelvic girdle region. FMA:87593 hp.json http://purl.obolibrary.org/obo/UBERON_0011090 HP:0033383 biolink:PhenotypicFeature Decreased compound muscle action potential amplitude Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. hp.json Decreased CMAP amplitude http://purl.obolibrary.org/obo/HP_0033383 HP:0033382 biolink:PhenotypicFeature Elevated circulating palmitoylcarnitine concentration Abnormally increased concentration of palmitoylcarnitine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033382 UBERON:0011096 biolink:AnatomicalEntity lacrimal nerve The lacrimal nerve is the smallest of the three branches of the ophthalmic division of the trigeminal nerve. FMA:52628|NCIT:C32908 hp.json nervus lacrimalis http://purl.obolibrary.org/obo/UBERON_0011096 GO:1903849 biolink:BiologicalProcess positive regulation of aorta morphogenesis Any process that activates or increases the frequency, rate or extent of aorta morphogenesis. hp.json up regulation of aorta morphogenesis|activation of aorta morphogenesis|upregulation of aorta morphogenesis|up-regulation of aorta morphogenesis http://purl.obolibrary.org/obo/GO_1903849 GO:1903848 biolink:BiologicalProcess negative regulation of aorta morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of aorta morphogenesis. hp.json down-regulation of aorta morphogenesis|down regulation of aorta morphogenesis|inhibition of aorta morphogenesis|downregulation of aorta morphogenesis http://purl.obolibrary.org/obo/GO_1903848 UBERON:0011095 biolink:AnatomicalEntity vertebra pre-cartilage condensation The pre-cartilaginous form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. EMAPA:32671|VHOG:0000582 hp.json vertebral pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0011095 UBERON:0035021 biolink:AnatomicalEntity right vagus X nerve trunk EMAPA:37799|MA:0001152|FMA:18151 hp.json right vagus neural trunk|trunk of right vagus|posterior vagus X nerve trunk http://purl.obolibrary.org/obo/UBERON_0035021 GO:1903847 biolink:BiologicalProcess regulation of aorta morphogenesis Any process that modulates the frequency, rate or extent of aorta morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_1903847 UBERON:0011094 biolink:AnatomicalEntity vertebra cartilage element The cartilaginous form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. VHOG:0000584|EMAPA:32669 hp.json vertebral cartilage condensation http://purl.obolibrary.org/obo/UBERON_0011094 HP:0430019 biolink:PhenotypicFeature Abnormality of muscle of facial expression An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression. UMLS:C4073201 hp.json Abnormality of musculature of facial expression|Abnormality of muscle of facial expression http://purl.obolibrary.org/obo/HP_0430019 UBERON:0035020 biolink:AnatomicalEntity left vagus X nerve trunk EMAPA:37798|MA:0001151|FMA:18157 hp.json left vagus neural trunk|trunk of left vagus|anterior vagus X nerve trunk http://purl.obolibrary.org/obo/UBERON_0035020 UBERON:0011093 biolink:AnatomicalEntity left pelvic girdle region A pelvic girdle region that is in the left side of a multicellular organism. FMA:16583 hp.json left pelvic girdle http://purl.obolibrary.org/obo/UBERON_0011093 HP:0033389 biolink:PhenotypicFeature Bronchopulmonary anastomosis Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries. hp.json http://purl.obolibrary.org/obo/HP_0033389 HP:0033388 biolink:PhenotypicFeature Abnormal bronchial artery morphology Any structural abnormality of a bronchial artery. hp.json http://purl.obolibrary.org/obo/HP_0033388 HP:0033385 biolink:PhenotypicFeature Elevated urine pyridinoline level An increased amount of pyridinoline in the urine. hp.json Elevated urine hydroxylysyl-pyridinoline level http://purl.obolibrary.org/obo/HP_0033385 HP:0033384 biolink:PhenotypicFeature Elevated urinary collagen degradation products Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. hp.json http://purl.obolibrary.org/obo/HP_0033384 HP:0033387 biolink:PhenotypicFeature Elevated circulating pyridinoline concentration An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033387 HP:0033386 biolink:PhenotypicFeature Abnormal circulating collagen degradation product concentration Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. hp.json http://purl.obolibrary.org/obo/HP_0033386 HP:0430010 biolink:PhenotypicFeature Microblepharia Abnormal shortness of the vertical dimensions of the eyelids. UMLS:C0685873|SNOMEDCT_US:94684003 hp.json Abnormally small eyelid http://purl.obolibrary.org/obo/HP_0430010 HP:0430018 biolink:PhenotypicFeature Abnormality of nasal musculature An abnormality of the muscles of the structure of the nose. UMLS:C4073200 hp.json Abnormality of nasal musculature|Abnormality of musculature of the nose|Abnormality of muscle of nose http://purl.obolibrary.org/obo/HP_0430018 HP:0430017 biolink:PhenotypicFeature Abnormality of uvular muscle An abnormality of the uvular muscle UMLS:C4073199 hp.json Abnormality of musculus uvulae http://purl.obolibrary.org/obo/HP_0430017 HP:0430016 biolink:PhenotypicFeature Abnormality of tensor veli palatini muscle An abnormality of the tensor veli palatini muscle UMLS:C4073198 hp.json http://purl.obolibrary.org/obo/HP_0430016 HP:0430015 biolink:PhenotypicFeature Abnormal morphology of musculature of pharynx An abnormality of any of the muscles of the pharynx. UMLS:C4073197 hp.json Abnormality of muscles of the pharynx|Abnormality of pharyngeal musculature|Abnormality of musculature of pharynx|Abnormality of pharynx musculature http://purl.obolibrary.org/obo/HP_0430015 HP:0430014 biolink:PhenotypicFeature Abnormality of musculature of soft palate An abnormality of one or more of the five muscles of the soft palate. UMLS:C4073196 hp.json Abnormality of soft palate muscles http://purl.obolibrary.org/obo/HP_0430014 HP:0430013 biolink:PhenotypicFeature Absent palatine bone ossification Lack of formation of the palatine bone. UMLS:C4021867 hp.json Absence of palatine bone mineralization|Absence of palatine bone calcification|Absence of palatine bone formation http://purl.obolibrary.org/obo/HP_0430013 HP:0430012 biolink:PhenotypicFeature Incomplete ossification of palatine bone Failure to complete ossification (maturation and calcification) of the palatine bone. UMLS:C0685213|SNOMEDCT_US:93595006 hp.json Incomplete formation of palatine bone|Incomplete mineralization of palatine bone|Incomplete calcification of palatine bone http://purl.obolibrary.org/obo/HP_0430012 HP:0430011 biolink:PhenotypicFeature Defect of palpebral conjunctiva An abnormality of the palpebral conjunctiva. UMLS:C4021868 hp.json http://purl.obolibrary.org/obo/HP_0430011 HP:0033392 biolink:PhenotypicFeature Perivascular pre-capillary pulmonary artery inflammation Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer). hp.json Perivascular inflammation of pre-capillary pulmonary arteries|Perivascular inflammation of arterioles in the pulmonary circulation http://purl.obolibrary.org/obo/HP_0033392 HP:0033391 biolink:PhenotypicFeature Bronchial artery hypertrophy Increase in the volume of bronchial artery wall due to the enlargement of its component cells. hp.json http://purl.obolibrary.org/obo/HP_0033391 HP:0033394 biolink:PhenotypicFeature Anti-carbonic anhydrase II antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II. hp.json http://purl.obolibrary.org/obo/HP_0033394 HP:0033393 biolink:PhenotypicFeature Irregularly shaped sperm tail Irregular or changing caliber (diameter) along the tail of the sperm. hp.json Sperm flagella with irregular calibre|Sperm flagella with irregular caliber http://purl.obolibrary.org/obo/HP_0033393 GO:0046031 biolink:BiologicalProcess ADP metabolic process The chemical reactions and pathways involving ADP, adenosine 5'-diphosphate. hp.json ADP metabolism http://purl.obolibrary.org/obo/GO_0046031 UBERON:0011085 biolink:AnatomicalEntity palatoquadrate arch The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG]. VHOG:0000511|TAO:0001272|EFO:0003659|ZFA:0001272 hp.json palatoquadrate arch|upper pharyngeal jaw|dorsal pharyngeal arch 1|dorsal visceral arch 1|upper pharyngeal jaw|dorsal visceral arch 1|upper jaw|dorsal mandibular arch http://purl.obolibrary.org/obo/UBERON_0011085 efo_slim UBERON:0035032 biolink:AnatomicalEntity abdominal oblique muscle Either the external or internal abdominal oblique muscles. MA:0003024|EMAPA:35603|MESH:D000071596 hp.json oblique abdominal muscle http://purl.obolibrary.org/obo/UBERON_0035032 HP:0033390 biolink:PhenotypicFeature Bronchial artery dilatation Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm. hp.json Dilatation of a bronchial artery|Bronchial artery enlargement http://purl.obolibrary.org/obo/HP_0033390 UBERON:0035034 biolink:AnatomicalEntity eyelid epithelium An epithelium that is part of an eyelid [Automatically generated definition]. MA:0003163|EMAPA:32758 hp.json http://purl.obolibrary.org/obo/UBERON_0035034 UBERON:0011088 biolink:AnatomicalEntity ligament of knee joint A ligament that is part of a knee joint. FMA:44580 hp.json knee joint ligament http://purl.obolibrary.org/obo/UBERON_0011088 human_reference_atlas HP:0033399 biolink:PhenotypicFeature Persistent fever Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks. hp.json http://purl.obolibrary.org/obo/HP_0033399 UBERON:0035036 biolink:AnatomicalEntity naris epithelium An epithelium that is part of a naris [Automatically generated definition]. EMAPA:35959|MA:0003172 hp.json http://purl.obolibrary.org/obo/UBERON_0035036 GO:0048699 biolink:BiologicalProcess generation of neurons The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons. hp.json neuron generation http://purl.obolibrary.org/obo/GO_0048699 HP:0033396 biolink:PhenotypicFeature Glomerular extracapillary fibrin Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. hp.json http://purl.obolibrary.org/obo/HP_0033396 UBERON:0035038 biolink:AnatomicalEntity carpal tunnel The fibro-osseous passageway on the palmar side of the wrist that connects the distal forearm to the middle compartment of the deep plane of the palm. FMA:42352 hp.json carpal canal|carpel tunnel http://purl.obolibrary.org/obo/UBERON_0035038 HP:0033395 biolink:PhenotypicFeature Antilactoferrin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin. hp.json http://purl.obolibrary.org/obo/HP_0033395 UBERON:0035037 biolink:AnatomicalEntity jaw epithelium MA:0003220|EMAPA:32904 hp.json http://purl.obolibrary.org/obo/UBERON_0035037 HP:0033398 biolink:PhenotypicFeature Pleural plaque Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). hp.json http://purl.obolibrary.org/obo/HP_0033398 GO:0046034 biolink:BiologicalProcess ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. hp.json ATP metabolism http://purl.obolibrary.org/obo/GO_0046034 UBERON:0035039 biolink:AnatomicalEntity rectal artery SCTID:277967008 hp.json hemorrhoidal artery http://purl.obolibrary.org/obo/UBERON_0035039 HP:0033397 biolink:PhenotypicFeature Bowman-space proteinaceous debris The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. hp.json http://purl.obolibrary.org/obo/HP_0033397 CL:1001599 biolink:Cell pancreas exocrine glandular cell Glandular cell of exocrine pancreas epithelium. Example: pancreatic acinar cell, glandular cells in pancreatic canaliculi, glandular cells in pancreatic ducts. CALOHA:TS-1242|BTO:0000028 hp.json exocrine pancreas glandular cell|pancreas exocrine glandular cells http://purl.obolibrary.org/obo/CL_1001599 HP:0430021 biolink:PhenotypicFeature Abnormal common carotid artery morphology An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. UMLS:C4073203 hp.json Abnormality of the common carotid artery http://purl.obolibrary.org/obo/HP_0430021 HP:0430020 biolink:PhenotypicFeature Abnormality of levator labii superioris alaeque nasi muscle An abnormality of the levator labii superioris alaeque nasi muscle. UMLS:C4073202 hp.json http://purl.obolibrary.org/obo/HP_0430020 CL:1001595 biolink:Cell rectum glandular cell Glandular cell of rectal epithelium. Example: Goblet cell; enterocytes or absorptive cells; enteroendocrine and M cells. CALOHA:TS-1281 hp.json rectal glandular cell|rectum glandular cells http://purl.obolibrary.org/obo/CL_1001595 CL:1001593 biolink:Cell parathyroid glandular cell Glandular cell of parathyroid epithelium. Example: Parathyroid chief cell and parathyroid oxyphil cells. CALOHA:TS-1279 hp.json parathyroid gland glandular cells|parathyroid gland glandular cell http://purl.obolibrary.org/obo/CL_1001593 CL:1001591 biolink:Cell oviduct glandular cell Glandular cell of oviduct epithelium. Example: peg cells, ciliated cells. CALOHA:TS-1277 hp.json fallopian tube glandular cell|uterine tube glandular cell|fallopian tube glandular cells http://purl.obolibrary.org/obo/CL_1001591 HP:0430029 biolink:PhenotypicFeature Hyperplasia of the premaxilla An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. UMLS:C4073210 hp.json Hyperplasia of the primary palate bone|Primary palate bone excess|Premaxillary excess|Hyperplasia of the intermaxillary bone|Increased size of premaxilla|Large premaxilla|Large primary palate bone|Increased size of the primary palate bone http://purl.obolibrary.org/obo/HP_0430029 HP:0430028 biolink:PhenotypicFeature Hyperplasia of the maxilla Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. UMLS:C4073209|SNOMEDCT_US:28070007|UMLS:C2227090|UMLS:C4280273|UMLS:C4280272|UMLS:C0266081 hp.json Prominent upper jaw|Maxillary hyperplasia|Increased size of maxilla|Prognathia of the upper jaw|Hypertrophy of maxilla|Upper jaw bone excess|Maxillary prognathia|Maxillary excess|Prominent maxilla|Upper jaw excess|Increased projection of upper jaw|Big upper jaw|Maxillary prominence|Increased projection of maxilla|Large upper jaw|Big maxilla|Hypertrophy of upper jaw|Increased size of upper jaw|Hyperplasia of upper jaw|Large maxilla|Maxillary macrognathia http://purl.obolibrary.org/obo/HP_0430028 HP:0430026 biolink:PhenotypicFeature obsolete Abnormality of the shape of the midface hp.json http://purl.obolibrary.org/obo/HP_0430026 HP:0430025 biolink:PhenotypicFeature Bilateral facial palsy Two-sided or bilateral weakness of the muscles of facial expression and eye closure. UMLS:C4073207 hp.json Bilateral facial paralysis|Bilateral facial muscle weakness|Paralysis of both sides of the face|Weakness of both sides of the face|Bilateral facial muscle paralysis http://purl.obolibrary.org/obo/HP_0430025 HP:0430024 biolink:PhenotypicFeature Abnormality of external jugular vein An abnormality of an external jugular vein of the neck. UMLS:C4073206 hp.json http://purl.obolibrary.org/obo/HP_0430024 HP:0430023 biolink:PhenotypicFeature Abnormality of the maxillary sinus An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. UMLS:C4073205 hp.json Abnormality of the upper jaw sinus|Abnormality of the antrum of Highmore|Abnormality of the maxillary antrum http://purl.obolibrary.org/obo/HP_0430023 GO:0034067 biolink:BiologicalProcess protein localization to Golgi apparatus A process in which a protein is transported to, or maintained in, a location within the Golgi apparatus. hp.json establishment of protein localization in Golgi|protein localization in Golgi apparatus|protein-Golgi targeting|protein targeting to Golgi|establishment of protein localisation to Golgi|establishment of protein localization to Golgi apparatus|establishment of protein localization to Golgi|protein localisation in Golgi apparatus http://purl.obolibrary.org/obo/GO_0034067 HP:0430022 biolink:PhenotypicFeature Abnormality of the sphenoid sinus An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. UMLS:C4073204 hp.json Abnormality of the sphenoidal sinus http://purl.obolibrary.org/obo/HP_0430022 NCBITaxon:2058949 biolink:OrganismalEntity Dictyosteliales GC_ID:1|PMID:29367151 hp.json http://purl.obolibrary.org/obo/NCBITaxon_2058949 GO:0090327 biolink:NamedThing negative regulation of locomotion involved in locomotory behavior hp.json http://purl.obolibrary.org/obo/GO_0090327 GO:1905126 biolink:BiologicalProcess regulation of axo-dendritic protein transport Any process that modulates the frequency, rate or extent of axo-dendritic protein transport. hp.json regulation of axonal protein transport http://purl.obolibrary.org/obo/GO_1905126 PR:P37237 biolink:Protein fibroblast growth factor 8 (mouse) A fibroblast growth factor 8 that is encoded in the genome of mouse. UniProtKB:P37237 hp.json androgen-induced growth factor (mouse)|mFGF8|Fgf8|FGF-8 (mouse)|HBGF-8 (mouse)|heparin-binding growth factor 8 (mouse)|AIGF (mouse)|Aigf http://purl.obolibrary.org/obo/PR_P37237 GO:0090325 biolink:BiologicalProcess regulation of locomotion involved in locomotory behavior Any process that modulates the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. hp.json http://purl.obolibrary.org/obo/GO_0090325 GO:1905127 biolink:BiologicalProcess negative regulation of axo-dendritic protein transport Any process that stops, prevents or reduces the frequency, rate or extent of axo-dendritic protein transport. hp.json down-regulation of axo-dendritic protein transport|downregulation of axonal protein transport|down regulation of axo-dendritic protein transport|down regulation of axonal protein transport|inhibition of axo-dendritic protein transport|downregulation of axo-dendritic protein transport|down-regulation of axonal protein transport|negative regulation of axonal protein transport|inhibition of axonal protein transport http://purl.obolibrary.org/obo/GO_1905127 GO:1905128 biolink:BiologicalProcess positive regulation of axo-dendritic protein transport Any process that activates or increases the frequency, rate or extent of axo-dendritic protein transport. hp.json up regulation of axonal protein transport|upregulation of axo-dendritic protein transport|up-regulation of axonal protein transport|up-regulation of axo-dendritic protein transport|activation of axonal protein transport|upregulation of axonal protein transport|up regulation of axo-dendritic protein transport|activation of axo-dendritic protein transport|positive regulation of axonal protein transport http://purl.obolibrary.org/obo/GO_1905128 GO:0090326 biolink:NamedThing positive regulation of locomotion involved in locomotory behavior hp.json http://purl.obolibrary.org/obo/GO_0090326 GO:0090322 biolink:BiologicalProcess regulation of superoxide metabolic process Any process that modulates the rate, frequency, or extent of superoxide metabolism, the chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. hp.json regulation of superoxide metabolism http://purl.obolibrary.org/obo/GO_0090322 GO:1905140 biolink:BiologicalProcess regulation of apical ectodermal ridge formation Any process that modulates the frequency, rate or extent of apical ectodermal ridge formation. hp.json regulation of crista ectodermalis apicalis formation|regulation of AER formation|regulation of apical epidermal ridge formation http://purl.obolibrary.org/obo/GO_1905140 GO:1905141 biolink:BiologicalProcess negative regulation of apical ectodermal ridge formation Any process that stops, prevents or reduces the frequency, rate or extent of apical ectodermal ridge formation. hp.json downregulation of apical ectodermal ridge formation|down-regulation of apical epidermal ridge formation|inhibition of apical ectodermal ridge formation|negative regulation of apical epidermal ridge formation|inhibition of crista ectodermalis apicalis formation|inhibition of AER formation|down-regulation of AER formation|negative regulation of AER formation|downregulation of crista ectodermalis apicalis formation|downregulation of apical epidermal ridge formation|down-regulation of apical ectodermal ridge formation|down regulation of AER formation|down regulation of apical ectodermal ridge formation|down regulation of crista ectodermalis apicalis formation|down regulation of apical epidermal ridge formation|downregulation of AER formation|negative regulation of crista ectodermalis apicalis formation|down-regulation of crista ectodermalis apicalis formation|inhibition of apical epidermal ridge formation http://purl.obolibrary.org/obo/GO_1905141 GO:1905142 biolink:BiologicalProcess positive regulation of apical ectodermal ridge formation Any process that activates or increases the frequency, rate or extent of apical ectodermal ridge formation. hp.json upregulation of apical epidermal ridge formation|up regulation of AER formation|up-regulation of apical ectodermal ridge formation|positive regulation of AER formation|positive regulation of crista ectodermalis apicalis formation|up regulation of apical ectodermal ridge formation|up regulation of crista ectodermalis apicalis formation|positive regulation of apical epidermal ridge formation|upregulation of AER formation|up regulation of apical epidermal ridge formation|activation of AER formation|up-regulation of crista ectodermalis apicalis formation|upregulation of apical ectodermal ridge formation|up-regulation of apical epidermal ridge formation|up-regulation of AER formation|upregulation of crista ectodermalis apicalis formation http://purl.obolibrary.org/obo/GO_1905142 GO:1905139 biolink:BiologicalProcess apical ectodermal ridge formation The process that gives rise to the apical ectodermal ridge. This process pertains to the initial formation of a structure from unspecified parts. hp.json crista ectodermalis apicalis formation|apical epidermal ridge formation|AER formation http://purl.obolibrary.org/obo/GO_1905139 PR:P01270 biolink:Protein parathyroid hormone (human) A parathyroid hormone that is encoded in the genome of human. UniProtKB:P01270 hp.json parathormone (human)|hPTH|PTH|parathyrin (human) http://purl.obolibrary.org/obo/PR_P01270 GO:0090330 biolink:BiologicalProcess regulation of platelet aggregation Any process that modulates the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. hp.json http://purl.obolibrary.org/obo/GO_0090330 GO:0090331 biolink:BiologicalProcess negative regulation of platelet aggregation Any process that decreases the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. hp.json platelet disaggregation http://purl.obolibrary.org/obo/GO_0090331 PR:P01275 biolink:Protein pro-glucagon (human) A pro-glucagon that is encoded in the genome of human. Reactome:R-HSA-400456|UniProtKB:P01275 hp.json GCG|hGCG http://purl.obolibrary.org/obo/PR_P01275 GO:1905147 biolink:BiologicalProcess regulation of smooth muscle hypertrophy Any process that modulates the frequency, rate or extent of smooth muscle hypertrophy. hp.json http://purl.obolibrary.org/obo/GO_1905147 GO:1905148 biolink:BiologicalProcess negative regulation of smooth muscle hypertrophy Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle hypertrophy. hp.json down-regulation of smooth muscle hypertrophy|down regulation of smooth muscle hypertrophy|downregulation of smooth muscle hypertrophy|inhibition of smooth muscle hypertrophy http://purl.obolibrary.org/obo/GO_1905148 GO:1905149 biolink:BiologicalProcess positive regulation of smooth muscle hypertrophy Any process that activates or increases the frequency, rate or extent of smooth muscle hypertrophy. hp.json up regulation of smooth muscle hypertrophy|activation of smooth muscle hypertrophy|upregulation of smooth muscle hypertrophy|up-regulation of smooth muscle hypertrophy http://purl.obolibrary.org/obo/GO_1905149 GO:0090303 biolink:BiologicalProcess positive regulation of wound healing Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. hp.json http://purl.obolibrary.org/obo/GO_0090303 GO:0090304 biolink:BiologicalProcess nucleic acid metabolic process Any cellular metabolic process involving nucleic acids. hp.json http://purl.obolibrary.org/obo/GO_0090304 GO:0090301 biolink:BiologicalProcess negative regulation of neural crest formation Any process that decreases the rate, frequency, or extent of neural crest formation. Neural crest formation is the formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation procedes. hp.json http://purl.obolibrary.org/obo/GO_0090301 GO:0090300 biolink:BiologicalProcess positive regulation of neural crest formation Any process that increases the rate, frequency, or extent of neural crest formation. Neural crest formation is the formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation procedes. hp.json http://purl.obolibrary.org/obo/GO_0090300 GO:0090316 biolink:BiologicalProcess positive regulation of intracellular protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. hp.json http://purl.obolibrary.org/obo/GO_0090316 GO:0090317 biolink:BiologicalProcess negative regulation of intracellular protein transport Any process that decreases the frequency, rate or extent of the directed movement of proteins within cells. hp.json http://purl.obolibrary.org/obo/GO_0090317 HP:0001528 biolink:PhenotypicFeature Hemihypertrophy Overgrowth of only one side of the body. UMLS:C0332890|SNOMEDCT_US:56007004|SNOMEDCT_US:205838004 hp.json Asymmetric limb hypertrophy|Asymmetric overgrowth http://purl.obolibrary.org/obo/HP_0001528 HP:0001525 biolink:PhenotypicFeature Severe failure to thrive UMLS:C1855514 hp.json Marked failure to thrive|Severe weight faltering|Severe faltering weight|Severe postnatal failure to thrive http://purl.obolibrary.org/obo/HP_0001525 HP:0001520 biolink:PhenotypicFeature Large for gestational age The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. UMLS:C1848395 hp.json Macrosomia, neonatal|Birth weight > 90th percentile|Fetal macrosomia|Birthweight > 90th percentile|Macrosomia|Foetal macrosomia http://purl.obolibrary.org/obo/HP_0001520 HP:0001522 biolink:PhenotypicFeature Death in infancy Death within the first 24 months of life. UMLS:C1858430|UMLS:C1844947 hp.json Infantile death|Death in early childhood|Death in infancy|Lethal in infancy http://purl.obolibrary.org/obo/HP_0001522 GO:0090368 biolink:BiologicalProcess regulation of ornithine metabolic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. hp.json http://purl.obolibrary.org/obo/GO_0090368 HP:0001538 biolink:PhenotypicFeature Protuberant abdomen A thrusting or bulging out of the abdomen. UMLS:C1854928 hp.json Belly sticks out|Abdominal protuberance|Extended belly http://purl.obolibrary.org/obo/HP_0001538 HP:0001539 biolink:PhenotypicFeature Omphalocele A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. UMLS:C0795690|MSH:D006554|MEDDRA:10030309|SNOMEDCT_US:18735004|Fyler:4404 hp.json Omphalocoele|Exomphalos http://purl.obolibrary.org/obo/HP_0001539 hposlim_core HP:0001537 biolink:PhenotypicFeature Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Fyler:4445|UMLS:C0019322|SNOMEDCT_US:396347007 hp.json Umbilical hernias http://purl.obolibrary.org/obo/HP_0001537 hposlim_core HP:0001530 biolink:PhenotypicFeature Mild postnatal growth retardation A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. UMLS:C3550204|UMLS:C1835580 hp.json Postnatal onset of mild growth retardation|Mild growth deficiency http://purl.obolibrary.org/obo/HP_0001530 HP:0001531 biolink:PhenotypicFeature Failure to thrive in infancy UMLS:C1867873 hp.json Faltering weight in infancy|Weight faltering in infancy|Failure to thrive in first year of life http://purl.obolibrary.org/obo/HP_0001531 HP:0001533 biolink:PhenotypicFeature Slender build Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. UMLS:C1850573 hp.json Slender build|Thin build|Asthenic habitus|Thin body habitus http://purl.obolibrary.org/obo/HP_0001533 HP:0001504 biolink:PhenotypicFeature Metacarpal osteolysis UMLS:C1854610 hp.json Metacarpals osteolysis http://purl.obolibrary.org/obo/HP_0001504 HP:0001507 biolink:PhenotypicFeature Growth abnormality UMLS:C0262361 hp.json Growth issue|Abnormal growth|Growth abnormality http://purl.obolibrary.org/obo/HP_0001507 HP:0001508 biolink:PhenotypicFeature Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. UMLS:C2315100|SNOMEDCT_US:36440009|SNOMEDCT_US:432788009|UMLS:C0231246 hp.json Undergrowth|Poor weight gain|Postnatal failure to thrive|Weight faltering|Faltering weight http://purl.obolibrary.org/obo/HP_0001508 HP:0001501 biolink:PhenotypicFeature 6 metacarpals UMLS:C1861360 hp.json 6 long bones of hand http://purl.obolibrary.org/obo/HP_0001501 HP:0001500 biolink:PhenotypicFeature Broad finger Increased width of a non-thumb digit of the hand. UMLS:C1844906 hp.json Wide fingers|Broad fingers|Broad finger http://purl.obolibrary.org/obo/HP_0001500 hposlim_core HP:0001518 biolink:PhenotypicFeature Small for gestational age Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. UMLS:C0235991|UMLS:C0024032|MSH:D007230|SNOMEDCT_US:276610007|SNOMEDCT_US:267258002 hp.json Small for gestational age|Birth weight less than 10th percentile|Low birth weight http://purl.obolibrary.org/obo/HP_0001518 HP:0001519 biolink:PhenotypicFeature Disproportionate tall stature A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. SNOMEDCT_US:62250003|MSH:D054119|UMLS:C1836996|UMLS:C0003706 hp.json Dolichostenomelia|Marfanoid habitus|Reduced upper-lower segment ratio|Marfanoid body habitus http://purl.obolibrary.org/obo/HP_0001519 GO:0090358 biolink:BiologicalProcess positive regulation of tryptophan metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. hp.json positive regulation of tryptophan metabolism http://purl.obolibrary.org/obo/GO_0090358 HP:0001513 biolink:PhenotypicFeature Obesity Accumulation of substantial excess body fat. SNOMEDCT_US:414915002|SNOMEDCT_US:414916001|MSH:D009765|UMLS:C0028754 hp.json Obesity|Having too much body fat http://purl.obolibrary.org/obo/HP_0001513 HP:0001510 biolink:PhenotypicFeature Growth delay A deficiency or slowing down of growth pre- and postnatally. UMLS:C0878787|SNOMEDCT_US:276617005|UMLS:C0151686|SNOMEDCT_US:444896005|UMLS:C1837385|UMLS:C0456070|UMLS:C3552463|SNOMEDCT_US:59576002 hp.json Growth failure|Growth retardation|Growth delay|Retarded growth|Poor growth|Delayed growth|Very poor growth|Growth deficiency http://purl.obolibrary.org/obo/HP_0001510 HP:0001511 biolink:PhenotypicFeature Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. MSH:D005317|UMLS:C0015934|SNOMEDCT_US:22033007|UMLS:C1386048|MSH:D007236|SNOMEDCT_US:199612005|UMLS:C0021296 hp.json Prenatal growth retardation|Small for gestational age infant|In utero growth retardation|Prenatal growth deficiency|Intrauterine growth retardation, IUGR|Prenatal onset growth retardation|Intrauterine growth restriction|IUGR|Prenatal-onset growth retardation|Intrauterine growth failure|Intrauterine retardation|Prenatal growth failure http://purl.obolibrary.org/obo/HP_0001511 GO:0090357 biolink:BiologicalProcess regulation of tryptophan metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. hp.json regulation of tryptophan metabolism http://purl.obolibrary.org/obo/GO_0090357 UBERON:0018146 biolink:AnatomicalEntity transverse process of lumbar vertebra A transverse process that is part of a lumbar vertebra. FMA:65469|FMA:16080 hp.json costa lumbalis|lumbar transverse process http://purl.obolibrary.org/obo/UBERON_0018146 GO:2000508 biolink:BiologicalProcess regulation of dendritic cell chemotaxis Any process that modulates the frequency, rate or extent of dendritic cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_2000508 GO:2000509 biolink:BiologicalProcess negative regulation of dendritic cell chemotaxis Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_2000509 UBERON:0018144 biolink:AnatomicalEntity cervical rib A rib that is attached to a cervical vertebra. EMAPA:37825|UBERONTEMP:d522e981-3a43-4cab-9862-4344b5c3ff22|MESH:D057070 hp.json http://purl.obolibrary.org/obo/UBERON_0018144 UBERON:0018145 biolink:AnatomicalEntity lumbar rib A rib that is attached to a lumbar vertebra. hp.json http://purl.obolibrary.org/obo/UBERON_0018145 UBERON:0018142 biolink:AnatomicalEntity caudal vertebra endochondral element Any vertebra endochondral element that is part of the caudal region of the vertebral column (tail or coccyx). hp.json coccygeal vertebra element|tail vertebra element|coccyx vertebra element|caudal vertebra element http://purl.obolibrary.org/obo/UBERON_0018142 UBERON:0018143 biolink:AnatomicalEntity transverse process of cervical vertebra A transverse process that is part of a cervical vertebra. FMA:23894|FMA:9913 hp.json http://purl.obolibrary.org/obo/UBERON_0018143 UBERON:0018149 biolink:AnatomicalEntity angle of oral opening The lateral limit of each lateral part of the oral fissure. FMA:77269|MFMO:0000145 hp.json angle of mouth|mouth angle http://purl.obolibrary.org/obo/UBERON_0018149 CL:0008007 biolink:Cell visceral muscle cell A muscle cell that is part of some visceral muscle hp.json http://purl.obolibrary.org/obo/CL_0008007 CL:0008008 biolink:Cell striated visceral muscle cell A visceral muscle cell that is striated. Examples include the visceral muscle cells of arhtropods. hp.json http://purl.obolibrary.org/obo/CL_0008008 CHEBI:16336 biolink:ChemicalSubstance hyaluronic acid A mucopolysaccharide composed of N-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells. PMID:11122186|KEGG:C00518|Wikipedia:Hyaluronan|Beilstein:8538277|CAS:9004-61-9|KEGG:G10505|CAS:9004-61-9|KEGG:D08043|PMID:18056362|PMID:18290544|Reaxys:8187837|HMDB:HMDB0010366 hp.json [beta-N-Acetyl-D-glucosaminyl(1,4)beta-D-glucuronosyl(1,3)]n|acido hialuronico|Hyaluronsaeure|acide hyaluronique|[beta-D-glucopyranuronosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)]n|Hyaluronic acid|hyaluronan http://purl.obolibrary.org/obo/CHEBI_16336 3_STAR CL:0008009 biolink:Cell transversely striated visceral muscle cell A visceral muscle that is transversely striated. Examples include the visceral muscle cells of arthropods. hp.json http://purl.obolibrary.org/obo/CL_0008009 CL:0008002 biolink:Cell skeletal muscle fiber A transversely striated, synctial cell of skeletal muscle. It is formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. hp.json http://purl.obolibrary.org/obo/CL_0008002 CL:0008000 biolink:Cell non-striated muscle cell Any muscle cell in which the fibers are not organised into sarcomeres. hp.json http://purl.obolibrary.org/obo/CL_0008000 CL:0008001 biolink:Cell hematopoietic precursor cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. hp.json http://purl.obolibrary.org/obo/CL_0008001 UBERON:0018135 biolink:AnatomicalEntity fibrocollagenous connective tissue FMA:83521 hp.json http://purl.obolibrary.org/obo/UBERON_0018135 UBERON:0018132 biolink:AnatomicalEntity tail fat pad Encapsulated adipose tissue that is part of a tail. hp.json tail fat depot http://purl.obolibrary.org/obo/UBERON_0018132 CL:0008017 biolink:Cell adult skeletal muscle myoblast A skeletal muscle myoblast that is part of a skeletal mucle. These cells are formed following acivation and division of skeletal muscle satellite cells. They form a transient population that is lost when they fuse to form skeletal muscle fibers. hp.json myogenic precursor cell http://purl.obolibrary.org/obo/CL_0008017 CL:0008019 biolink:Cell mesenchymal cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. hp.json mesenchyme cell http://purl.obolibrary.org/obo/CL_0008019 GO:2000510 biolink:BiologicalProcess positive regulation of dendritic cell chemotaxis Any process that activates or increases the frequency, rate or extent of dendritic cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_2000510 PR:P27814 biolink:Protein killer cell lectin-like receptor subfamily B member 1C (mouse) A killer cell lectin-like receptor subfamily B member 1C that is encoded in the genome of mouse. UniProtKB:P27814 hp.json mKlrb1c|CD161 antigen-like family member C (mouse)|NKR-P1.9 (mouse)|Nkrp1c|NKR-P1 40 (mouse)|Ly-55c (mouse)|lymphocyte antigen 55c (mouse)|Ly55c|NKR-P1C (mouse)|Klrb1c|natural killer cell surface protein P1-40 (mouse)|CD161c (mouse)|NK1.1 (mouse) http://purl.obolibrary.org/obo/PR_P27814 CHEBI:5391 biolink:ChemicalSubstance glucagon A 29-amino acid peptide hormone consisting of His, Ser, Gln, Gly, Thr, Phe, Thr, Ser, Asp, Tyr, Ser, Lys, Tyr, Leu, Asp, Ser, Arg, Arg, Ala, Gln, Asp, Phe, Val, Gln, Trp, Leu, Met, Asn and Thr residues joined in sequence. PMID:22166985|DrugBank:DB00040|PMID:22399501|PMID:22167521|PMID:22214853|Wikipedia:Glucagon|CAS:9007-92-5|PMID:22154917|CAS:9007-92-5|PMID:21940356|Reaxys:13191924|CAS:16941-32-5|PMID:22318544|PMID:22438981|PMID:22014161|PMID:22227186|PMID:22294753|PMID:22286080|KEGG:C01501|KEGG:D00116|PMID:22454291|Drug_Central:2994|PMID:22334714 hp.json glucagonum|L-histidyl-L-seryl-L-glutaminylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-aspartyl-L-tyrosyl-L-seryl-L-lysyl-L-tyrosyl-L-leucyl-L-alpha-aspartyl-L-seryl-L-arginyl-L-arginyl-L-alanyl-L-glutaminyl-L-alpha-aspartyl-L-phenylalanyl-L-valyl-L-glutaminyl-L-tryptophyl-L-leucyl-L-methionyl-L-asparaginyl-L-threonine|His-ser-glu(nh2)-gly-thr-phe-thr-ser-asp-tyr-ser-lys-tyr-leu-asp-ser-arg-arg-ala-glu(NH2)-asp-phe-val-glu(NH2)-trp-leu-met-asp(NH2)-thr|His-Ser-Gln-Gly-Thr-Phe-Thr-Ser-Asp-Tyr-Ser-Lys-Tyr-Leu-Asp-Ser-Arg-Arg-Ala-Gln-Asp-Phe-Val-Gln-Trp-Leu-Met-Asn-Thr|Glucagon|Glucagone|glucagon|HSQGTFTSDYSKYLDSRRAQDFVQWLMNT http://purl.obolibrary.org/obo/CHEBI_5391 3_STAR UBERON:0018120 biolink:AnatomicalEntity right renal medulla interstitium A renal medulla interstitium that is part of a right kidney. hp.json medullary interstitial tissue of right kidney http://purl.obolibrary.org/obo/UBERON_0018120 CHEBI:28300 biolink:ChemicalSubstance glutamine An alpha-amino acid that consists of butyric acid bearing an amino substituent at position 2 and a carbamoyl substituent at position 4. CAS:585-21-7|KNApSAcK:C00001359|Beilstein:1723795|Reaxys:1723795|KEGG:C00303|CAS:6899-04-3|CAS:6899-04-3|Wikipedia:Glutamine|Gmelin:27318 hp.json 2,5-diamino-5-oxopentanoic acid|Glutamin|Hgln|glutamine|2-amino-4-carbamoylbutanoic acid|Glutamine|glutamic acid gamma-amide|2-Aminoglutaramic acid|Glutaminsaeure-5-amid http://purl.obolibrary.org/obo/CHEBI_28300 3_STAR GO:2000527 biolink:BiologicalProcess regulation of myeloid dendritic cell chemotaxis Any process that modulates the frequency, rate or extent of myeloid dendritic cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_2000527 GO:2000528 biolink:BiologicalProcess negative regulation of myeloid dendritic cell chemotaxis Any process that stops, prevents or reduces the frequency, rate or extent of myeloid dendritic cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_2000528 GO:2000529 biolink:BiologicalProcess positive regulation of myeloid dendritic cell chemotaxis Any process that activates or increases the frequency, rate or extent of myeloid dendritic cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_2000529 CHEBI:5386 biolink:ChemicalSubstance globin COMe:PRX000257|KEGG:C06258 hp.json Globin|globins|pentacoordinate globin http://purl.obolibrary.org/obo/CHEBI_5386 3_STAR UBERON:0018113 biolink:AnatomicalEntity left kidney interstitium A kidney interstitium that is part of a left kidney. FMA:74271 hp.json stroma of left kidney|left renal stroma http://purl.obolibrary.org/obo/UBERON_0018113 UBERON:0018114 biolink:AnatomicalEntity right kidney interstitium A kidney interstitium that is part of a right kidney. FMA:74270 hp.json right renal stroma|stroma of right kidney http://purl.obolibrary.org/obo/UBERON_0018114 UBERON:0018111 biolink:AnatomicalEntity muscle layer of rectum A muscle layer that is part of the rectum. FMA:15035 hp.json tunica muscularis recti|tunica muscularis (rectum)|muscular coat of rectum|rectal muscularis propria|muscularis externa of rectum http://purl.obolibrary.org/obo/UBERON_0018111 UBERON:0018112 biolink:AnatomicalEntity rectum smooth muscle tissue Any portion of smooth muscle tissue that is part of the rectum. hp.json rectal smooth muscle tissue|rectum smooth muscle|smooth muscle of rectum http://purl.obolibrary.org/obo/UBERON_0018112 UBERON:0018119 biolink:AnatomicalEntity left renal medulla interstitium A renal medulla interstitium that is part of a left kidney. hp.json medullary interstitial tissue of left kidney http://purl.obolibrary.org/obo/UBERON_0018119 UBERON:0018117 biolink:AnatomicalEntity left renal cortex interstitium A renal cortex interstitium that is part of a left kidney. hp.json cortical interstitial tissue of left kidney http://purl.obolibrary.org/obo/UBERON_0018117 UBERON:0018118 biolink:AnatomicalEntity right renal cortex interstitium A renal cortex interstitium that is part of a right kidney. hp.json cortical interstitial tissue of right kidney http://purl.obolibrary.org/obo/UBERON_0018118 UBERON:0018115 biolink:AnatomicalEntity left renal pelvis A renal pelvis that is part of a left ureter. FMA:15579 hp.json pelvis of left ureter|renal pelvis of left kidney http://purl.obolibrary.org/obo/UBERON_0018115 UBERON:0018116 biolink:AnatomicalEntity right renal pelvis A renal pelvis that is part of a right ureter. FMA:15578 hp.json pelvis of right kidney|pelvis of right ureter http://purl.obolibrary.org/obo/UBERON_0018116 UBERON:0006135 biolink:AnatomicalEntity myelinated nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH). NCIT:C12627|UMLS:C0027750|SCTID:362296008|FMA:5915|MESH:D009413|GAID:745 hp.json http://purl.obolibrary.org/obo/UBERON_0006135 pheno_slim UBERON:0006134 biolink:AnatomicalEntity nerve fiber A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. BAMS:nfi|Wikipedia:Nervous_system_fiber|SCTID:88545005|FMA:5914|MESH:A08.663.542|MESH:D009412 hp.json neurofibra|neurofibrum|neurofibra|nerve fibre|nerve fibers|neurofibra http://purl.obolibrary.org/obo/UBERON_0006134 human_reference_atlas UBERON:0006133 biolink:AnatomicalEntity funiculus of neuraxis The cerebrospinal nerves consist of numerous nerve fibers collected together and enclosed in membranous sheaths. A small bundle of fibers, enclosed in a tubular sheath, is called a funiculus; if the nerve is of small size, it may consist only of a single funiculus; but if large, the funiculi are collected together into larger bundles or fasciculi, which are bound together in a common membranous investment. Examples include: Anterior funiculus of the spinal cord Lateral funiculus of the spinal cord Posterior funiculus of the spinal cord Funiculus solitarius of the medulla Funiculus separans. FMA:76738 hp.json http://purl.obolibrary.org/obo/UBERON_0006133 UBERON:0006136 biolink:AnatomicalEntity unmyelinated nerve fiber NCIT:C33835|UMLS:C0501409|SCTID:46920005|FMA:5916|MESH:D036421|GAID:767 hp.json non-myelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006136 PR:P01236 biolink:Protein prolactin (human) A prolactin that is encoded in the genome of human. UniProtKB:P01236 hp.json PRL|hPRL http://purl.obolibrary.org/obo/PR_P01236 CHEBI:16313 biolink:ChemicalSubstance D-proline The D-enantiomer of proline. DrugBank:DB02853|HMDB:HMDB0003411|CAS:344-25-2|Reaxys:80811|Beilstein:80811|MetaCyc:D-PROLINE|PMID:21563681|PMID:19023642|Wikipedia:D-proline|PMID:20023020|CAS:344-25-2|PMID:20959625|Gmelin:833984|KEGG:C00763|PMID:22479580|PDBeChem:DPR|PMID:22475019|PMID:21374575 hp.json (2R)-pyrrolidine-2-carboxylic acid|D-Proline|(R)-pyrrolidine-2-carboxylic acid|D-PROLINE|D-Prolin|(R)-2-Carboxypyrrolidine|D-proline|DPR http://purl.obolibrary.org/obo/CHEBI_16313 3_STAR UBERON:0006183 biolink:AnatomicalEntity mesonephric glomerular capillary hp.json http://purl.obolibrary.org/obo/UBERON_0006183 UBERON:0018156 biolink:AnatomicalEntity malleal ligament A skeletal ligament that attaches to the malleus. hp.json http://purl.obolibrary.org/obo/UBERON_0018156 UBERON:0018154 biolink:AnatomicalEntity ligament of middle ear A ligament that is part of a middle ear. hp.json http://purl.obolibrary.org/obo/UBERON_0018154 UBERON:0018151 biolink:AnatomicalEntity skin of upper lip A zone of skin that is part of a upper lip. FMA:24765 hp.json upper lip skin http://purl.obolibrary.org/obo/UBERON_0018151 UBERON:0006170 biolink:AnatomicalEntity mesonephric capsule The mesonephric capsule is the tough fibrous layer surrounding the mesonephros, covered in a thick layer of perinephric adipose tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0006170 GO:1905114 biolink:BiologicalProcess cell surface receptor signaling pathway involved in cell-cell signaling Any cell surface receptor signaling pathway that is involved in cell-cell signaling. hp.json cell surface receptor linked signal transduction involved in cell-cell signaling|cell surface receptor linked signalling pathway involved in cell-cell signalling|cell surface receptor linked signaling pathway involved in cell-cell signaling|cell surface receptor linked signaling pathway involved in cell-cell signalling|cell surface receptor signaling pathway involved in cell-cell signalling|cell surface receptor linked signal transduction involved in cell-cell signalling|cell surface receptor linked signalling pathway involved in cell-cell signaling http://purl.obolibrary.org/obo/GO_1905114 UBERON:0018150 biolink:AnatomicalEntity skin of lower lip A zone of skin that is part of a lower lip. FMA:24767|SCTID:281630002 hp.json lower lip skin http://purl.obolibrary.org/obo/UBERON_0018150 GO:0006942 biolink:BiologicalProcess regulation of striated muscle contraction Any process that modulates the frequency, rate or extent of striated muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_0006942 GO:0006940 biolink:BiologicalProcess regulation of smooth muscle contraction Any process that modulates the frequency, rate or extent of smooth muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_0006940 GO:0006941 biolink:BiologicalProcess striated muscle contraction A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. hp.json sarcomeric muscle contraction http://purl.obolibrary.org/obo/GO_0006941 HP:0025497 biolink:PhenotypicFeature Coronary artery spasm A brief and sudden narrowing of a coronary artery. hp.json Coronary artery vasospasm http://purl.obolibrary.org/obo/HP_0025497 HP:0025498 biolink:PhenotypicFeature Aceruloplasminemia Absence of ceruloplasmin in the blood. hp.json Aceruloplasminaemia http://purl.obolibrary.org/obo/HP_0025498 HP:0025499 biolink:PhenotypicFeature Class I obesity Obesity with a body mass index of 30 to 34.9 kg per square meter. hp.json Obesity grade 1 http://purl.obolibrary.org/obo/HP_0025499 UBERON:0008867 biolink:AnatomicalEntity trabecular network of bone The network of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force. NCIT:C82999|UMLS:C2826619 hp.json bone trabecula|bone trabeculae http://purl.obolibrary.org/obo/UBERON_0008867 pheno_slim UBERON:0006208 biolink:AnatomicalEntity auditory hillocks A collection of protruberances derived from pharyngeal arches 1 and 2 that develop into the folds of the pinna and gradually shift upwards and backwards to their final position on the head. EHDAA2:0000155|EHDAA:4685|NCIT:C34110|EMAPA:17280|VHOG:0001364 hp.json auditory tubercles|auditory hillock of Hiss|hillock of Hiss|auricular hillock http://purl.obolibrary.org/obo/UBERON_0006208 emapa_ehdaa2 HP:0025490 biolink:PhenotypicFeature Myocardial bridging A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course. hp.json Intramyocardial coronary artery course http://purl.obolibrary.org/obo/HP_0025490 UBERON:0006207 biolink:AnatomicalEntity aortico-pulmonary spiral septum The spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta[MP]. The aorticopulmonary septum is developmentally formed from neural crest, specifically the cardiac neural crest, and actively separates the aorta and pulmonary arteries and fuses with the interventricular septum within the heart during development. The actual mechanism of septation of the outflow tract is poorly understood, but is recognized as a dynamic process with contributions from contractile, hemodynamic, and extracellular matrix interactions. Wikipedia:Aorticopulmonary_septum|EHDAA2:0000136|CALOHA:TS-2409|EMAPA:16827|VHOG:0000502|EHDAA:2592 hp.json spiral septum|septum aorticopulmonale|aortico-pulmonary septum|spiral septum|septum aorticopulmonale|aorticopulmonary septum|aortic septum|aortico-pulmonary septum|aorticopulmonary septum|aortic septum http://purl.obolibrary.org/obo/UBERON_0006207 emapa_ehdaa2|pheno_slim HP:0025491 biolink:PhenotypicFeature Venous stenosis Narrowing of a vein due to intimal hyperplasia and fibrosis. hp.json http://purl.obolibrary.org/obo/HP_0025491 UBERON:0006206 biolink:AnatomicalEntity iridocorneal angle Acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye[MP]. FMA:58577 hp.json anterior chamber angle http://purl.obolibrary.org/obo/UBERON_0006206 pheno_slim HP:0025492 biolink:PhenotypicFeature Microcoria A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. hp.json http://purl.obolibrary.org/obo/HP_0025492 HP:0025493 biolink:PhenotypicFeature Palmoplantar erythema Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. hp.json http://purl.obolibrary.org/obo/HP_0025493 HP:0025494 biolink:PhenotypicFeature Coated aorta Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans hp.json http://purl.obolibrary.org/obo/HP_0025494 UBERON:0008861 biolink:AnatomicalEntity pyloric gastric gland The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. NCIT:C33431|FMA:14922|EMAPA:27211|UMLS:C0227239 hp.json pyloric antrum gland|pyloric mucuous gland|glandula pylorica|pyloric gland http://purl.obolibrary.org/obo/UBERON_0008861 pheno_slim UBERON:0006204 biolink:AnatomicalEntity inguinal ligament A band running from the pubic tubercle to the anterior superior iliac spine. Its anatomy is very important for operating on hernia patients. It forms the base of the inguinal canal through which an indirect inguinal hernia may develop. The inguinal ligament runs from the anterior superior iliac spine of the ilium to the pubic tubercle of the pubic bone. It is formed by the external abdominal oblique aponeurosis and is continuous with the fascia lata of the thigh. FMA:19855 hp.json fallopian ligament|Vesalius' ligament|Poupart's ligament http://purl.obolibrary.org/obo/UBERON_0006204 HP:0025495 biolink:PhenotypicFeature Descending aorta hypoplasia Significant luminal narrowing of a long segment of the descending aorta. hp.json http://purl.obolibrary.org/obo/HP_0025495 UBERON:0006203 biolink:AnatomicalEntity conchal part of pinna FMA:61006|UMLS:C0229316|NCIT:C32362 hp.json concha of pinna|concha auriculae|concha|concha of auricle http://purl.obolibrary.org/obo/UBERON_0006203 pheno_slim HP:0025496 biolink:PhenotypicFeature Abnormal coronary artery physiology Any anomaly of the function of a coronary artery. hp.json http://purl.obolibrary.org/obo/HP_0025496 GO:0006949 biolink:BiologicalProcess syncytium formation The formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane. Syncytia are normally derived from single cells that fuse or fail to complete cell division. hp.json http://purl.obolibrary.org/obo/GO_0006949 goslim_pir GO:0006955 biolink:BiologicalProcess immune response Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. hp.json http://purl.obolibrary.org/obo/GO_0006955 goslim_drosophila GO:0006956 biolink:BiologicalProcess complement activation Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. hp.json complement response|complement cascade|complement activity http://purl.obolibrary.org/obo/GO_0006956 GO:0006954 biolink:BiologicalProcess inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. Wikipedia:Inflammation hp.json inflammation http://purl.obolibrary.org/obo/GO_0006954 goslim_generic GO:0006952 biolink:BiologicalProcess defense response Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. hp.json defense/immunity protein activity|antimicrobial peptide activity|defence response|physiological defense response http://purl.obolibrary.org/obo/GO_0006952 GO:0006950 biolink:BiologicalProcess response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). hp.json response to biotic stress|response to abiotic stress http://purl.obolibrary.org/obo/GO_0006950 gocheck_do_not_manually_annotate|goslim_plant|goslim_drosophila|goslim_metagenomics|goslim_aspergillus|goslim_chembl|goslim_generic|goslim_candida HP:0025486 biolink:PhenotypicFeature Fused labia majora The outer labia are sealed together. hp.json http://purl.obolibrary.org/obo/HP_0025486 UBERON:0008854 biolink:AnatomicalEntity root of molar tooth The part of a molar tooth that is implanted in the gum; mandibular and maxillary molars usually have two and three roots, respectively. FMA:85302|EMAPA:37948 hp.json molar tooth root|molar root http://purl.obolibrary.org/obo/UBERON_0008854 pheno_slim HP:0025487 biolink:PhenotypicFeature Abnormality of bladder morphology Any structural anomaly of the bladder. hp.json http://purl.obolibrary.org/obo/HP_0025487 HP:0025488 biolink:PhenotypicFeature Detrusor sphincter dyssynergia A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. hp.json http://purl.obolibrary.org/obo/HP_0025488 GO:0043903 biolink:BiologicalProcess regulation of biological process involved in symbiotic interaction Any process that modulates the frequency, rate or extent of symbiosis, an interaction between two organisms living together in more or less intimate association. hp.json regulation of symbiotic process|regulation of symbiosis, encompassing mutualism through parasitism|regulation of interspecies interactions between organisms http://purl.obolibrary.org/obo/GO_0043903 UBERON:0008856 biolink:AnatomicalEntity stomach muscularis externa The smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines. SCTID:362132003|FMA:14909 hp.json tunica muscularis (gaster)|gastric muscularis|muscularis externa of stomach|tunica muscularis gastris|muscle layer of stomach http://purl.obolibrary.org/obo/UBERON_0008856 pheno_slim HP:0025489 biolink:PhenotypicFeature Bladder duplication A congenital anomaly characterized by the presence of two bladders. hp.json http://purl.obolibrary.org/obo/HP_0025489 UBERON:0008858 biolink:AnatomicalEntity pyloric canal The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter. EMAPA:37944|FMA:14580 hp.json canalis pyloricus|canalis pyloricus http://purl.obolibrary.org/obo/UBERON_0008858 pheno_slim GO:0043900 biolink:BiologicalProcess regulation of multi-organism process Any process that modulates the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. hp.json http://purl.obolibrary.org/obo/GO_0043900 HP:0025480 biolink:PhenotypicFeature Lipomyelomeningocele A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft. hp.json http://purl.obolibrary.org/obo/HP_0025480 HP:0025481 biolink:PhenotypicFeature Cervical hemivertebrae Absence of one half of the vertebral body in the cervical spine. hp.json http://purl.obolibrary.org/obo/HP_0025481 HP:0025482 biolink:PhenotypicFeature Positive perchlorate discharge test An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. hp.json http://purl.obolibrary.org/obo/HP_0025482 CHEBI:16285 biolink:ChemicalSubstance phytanic acid A branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15. KEGG:C01607|PMID:9819701|PMID:12187408|CAS:14721-66-5|Beilstein:1789963|CAS:14721-66-5|Reaxys:1789963|LIPID_MAPS_instance:LMFA01020251|PMID:17956237 hp.json 3,7,11,15-tetramethyl-hexadecanoic acid|3,7,11,15-Tetramethyl-hexadecansaeure|3,7,11,15-tetramethyl hexadecanoic acid|Phytanic acid|3,7,11,15-tetramethylhexadecanoic acid http://purl.obolibrary.org/obo/CHEBI_16285 3_STAR HP:0025483 biolink:PhenotypicFeature Abnormal circulating thyroglobulin level A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. hp.json http://purl.obolibrary.org/obo/HP_0025483 HP:0025484 biolink:PhenotypicFeature Increased circulating thyroglobulin level An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. hp.json http://purl.obolibrary.org/obo/HP_0025484 GO:0006959 biolink:BiologicalProcess humoral immune response An immune response mediated through a body fluid. Wikipedia:Humoral_immunity hp.json http://purl.obolibrary.org/obo/GO_0006959 HP:0025485 biolink:PhenotypicFeature Vaginal adenosis Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life. hp.json http://purl.obolibrary.org/obo/HP_0025485 GO:0006925 biolink:BiologicalProcess inflammatory cell apoptotic process Any apoptotic process in an inflammatory cell, any cell participating in the inflammatory response to a foreign substance e.g. neutrophil, macrophage. hp.json programmed cell death of inflammatory cells by apoptosis|programmed cell death, inflammatory cells|inflammatory cell apoptosis|killing of inflammatory cells|apoptosis of inflammatory cells|inflammatory cell programmed cell death by apoptosis http://purl.obolibrary.org/obo/GO_0006925 GO:0006921 biolink:BiologicalProcess cellular component disassembly involved in execution phase of apoptosis The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. hp.json cellular component disassembly involved in apoptosis|cellular component disassembly involved in apoptotic process|disassembly of cell structures http://purl.obolibrary.org/obo/GO_0006921 NCBITaxon:6656 biolink:OrganismalEntity Arthropoda GC_ID:1 hp.json arthropods|arthropods http://purl.obolibrary.org/obo/NCBITaxon_6656 CHEBI:65256 biolink:ChemicalSubstance antimicrobial food preservative A food preservative which prevents decomposition of food by preventing the growth of fungi or bacteria. In European countries, E-numbers for permitted food preservatives are from E200 to E299, divided into sorbates (E200-209), benzoates (E210-219), sulfites (E220-229), phenols and formates (E230-239), nitrates (E240-259), acetates (E260-269), lactates (E270-279), propionates (E280-289) and others (E290-299). hp.json antimicrobial preservatives|antimicrobial preservative|antimicrobial food preservatives http://purl.obolibrary.org/obo/CHEBI_65256 3_STAR CHEBI:65255 biolink:ChemicalSubstance food preservative Substances which are added to food in order to prevent decomposition caused by microbial growth or by undesirable chemical changes. hp.json food preservatives http://purl.obolibrary.org/obo/CHEBI_65255 3_STAR HP:0025475 biolink:PhenotypicFeature Erythematous macule A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. hp.json http://purl.obolibrary.org/obo/HP_0025475 UBERON:0008842 biolink:AnatomicalEntity suspensory ligament of testis The cranial atrophic portion of the urogenital ridge attached to the cranial pole of the intraabdominal embryonic testis. hp.json scrotal ligament http://purl.obolibrary.org/obo/UBERON_0008842 UBERON:0008843 biolink:AnatomicalEntity gubernaculum testis The fetal ligament attached to the inferior end of the epididymis and testis and, at its other end, to the bottom of the scrotum; it is present during, and is thought to guide, the descent of the testis into the scrotum and then atrophies. MA:0003248|BTO:0002813|EMAPA:19089|FMA:20421 hp.json gubernaculum|Hunter's gubernaculum|male gubernaculum http://purl.obolibrary.org/obo/UBERON_0008843 HP:0025476 biolink:PhenotypicFeature Testicular lipomatosis Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm. hp.json http://purl.obolibrary.org/obo/HP_0025476 UBERON:0008844 biolink:AnatomicalEntity gubernaculum (female) A gubernaculum that is part of a female reproductive system. hp.json gubernaculum ovarii|female gubernaculum http://purl.obolibrary.org/obo/UBERON_0008844 HP:0025477 biolink:PhenotypicFeature Periarticular calcification Calcified deposits in soft tissue structures outside a joint. hp.json http://purl.obolibrary.org/obo/HP_0025477 UBERON:0008845 biolink:AnatomicalEntity nonskeletal ligament A ligament that does not connect two skeletal elements. MA:0003004|FMA:25625 hp.json non-skeletal ligament|fibrous ligament http://purl.obolibrary.org/obo/UBERON_0008845 HP:0025478 biolink:PhenotypicFeature Atrial standstill Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram. hp.json Silent atrium http://purl.obolibrary.org/obo/HP_0025478 HP:0025479 biolink:PhenotypicFeature Self-neglect Neglecting one's own needs and well-being. hp.json http://purl.obolibrary.org/obo/HP_0025479 UBERON:0008846 biolink:AnatomicalEntity skeletal ligament Dense regular connective tissue connecting two or more adjacent skeletal elements[VSAO,modified]. CALOHA:TS-2146|VSAO:0000072|MA:0003005|AAO:0010444|AEO:0000090|EV:0100144|FMA:25624|EHDAA2:0003232|GAID:118 hp.json articular larua|true ligament|ligament|articular ligament http://purl.obolibrary.org/obo/UBERON_0008846 NCBITaxon:89593 biolink:OrganismalEntity Craniata GC_ID:1 hp.json Craniata http://purl.obolibrary.org/obo/NCBITaxon_89593 HP:0025470 biolink:PhenotypicFeature Telogen effluvium A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles. hp.json http://purl.obolibrary.org/obo/HP_0025470 GO:0006928 biolink:BiologicalProcess movement of cell or subcellular component The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. hp.json cellular component motion|cell movement|cellular component movement http://purl.obolibrary.org/obo/GO_0006928 goslim_pir|gocheck_do_not_annotate HP:0025471 biolink:PhenotypicFeature Congenital panfollicular nevus A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation. hp.json http://purl.obolibrary.org/obo/HP_0025471 HP:0025472 biolink:PhenotypicFeature Recurrent plantar mycosis A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching. hp.json http://purl.obolibrary.org/obo/HP_0025472 HP:0025473 biolink:PhenotypicFeature Hyperpigmented papule A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. hp.json http://purl.obolibrary.org/obo/HP_0025473 HP:0025474 biolink:PhenotypicFeature Erythematous plaque A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. hp.json Violaceous plaque http://purl.obolibrary.org/obo/HP_0025474 UBERON:0008841 biolink:AnatomicalEntity suspensory ligament A ligament that supports a body part, especially an organ. hp.json http://purl.obolibrary.org/obo/UBERON_0008841 GO:0006935 biolink:BiologicalProcess chemotaxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). Wikipedia:Chemotaxis hp.json taxis in response to chemical stimulus http://purl.obolibrary.org/obo/GO_0006935 GO:0006936 biolink:BiologicalProcess muscle contraction A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Wikipedia:Muscle_contraction hp.json http://purl.obolibrary.org/obo/GO_0006936 goslim_pir HP:0025464 biolink:PhenotypicFeature Increased reactive oxygen species production An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage. hp.json Oxidative stress|Increased ROS production http://purl.obolibrary.org/obo/HP_0025464 HP:0025465 biolink:PhenotypicFeature Abnormal circulating beta globulin level A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood. hp.json http://purl.obolibrary.org/obo/HP_0025465 HP:0025466 biolink:PhenotypicFeature Beta 2-microglobulinuria Increased level of beta 2-microglobulins in the urine. hp.json http://purl.obolibrary.org/obo/HP_0025466 UBERON:0008833 biolink:AnatomicalEntity great auricular nerve A nerve arising from the second and third cervical nerves from the cervical plexus and innervating the skin over the parotid gland, the skin of part of the ear, the adjacent portion of the scalp, cheek, and angle of the jaw. FMA:6872 hp.json great auricular|nervus auricularis magnus|greater auricular nerve http://purl.obolibrary.org/obo/UBERON_0008833 human_reference_atlas UBERON:0008835 biolink:AnatomicalEntity hepatic diverticulum An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. XAO:0000101|UMLS:C1512407|EHDAA2:0000740|EHDAA:1530|AAO:0011057|NCIT:C34187 hp.json liver diverticulum|diverticulum hepaticum http://purl.obolibrary.org/obo/UBERON_0008835 pheno_slim HP:0025469 biolink:PhenotypicFeature Anagen effluvium An abnormal loss of anagen (growth phase) hairs. hp.json http://purl.obolibrary.org/obo/HP_0025469 UBERON:0008836 biolink:AnatomicalEntity liver bud BTO:0001642 hp.json http://purl.obolibrary.org/obo/UBERON_0008836 UBERON:0008837 biolink:AnatomicalEntity palmar/plantar part of autopod hp.json http://purl.obolibrary.org/obo/UBERON_0008837 GO:0006939 biolink:BiologicalProcess smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length. hp.json visceral muscle contraction http://purl.obolibrary.org/obo/GO_0006939 HP:0025460 biolink:PhenotypicFeature High myoinositol in brain by MRS An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). hp.json High myo-inositol in brain by MRS http://purl.obolibrary.org/obo/HP_0025460 HP:0025461 biolink:PhenotypicFeature Abnormal cell morphology Any anomaly of cell structure. hp.json http://purl.obolibrary.org/obo/HP_0025461 GO:0006937 biolink:BiologicalProcess regulation of muscle contraction Any process that modulates the frequency, rate or extent of muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_0006937 HP:0025462 biolink:PhenotypicFeature obsolete Abnormal cellular physiology hp.json http://purl.obolibrary.org/obo/HP_0025462 HP:0025463 biolink:PhenotypicFeature Abnormality of redox activity An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions. hp.json http://purl.obolibrary.org/obo/HP_0025463 GO:0006903 biolink:BiologicalProcess vesicle targeting The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. hp.json http://purl.obolibrary.org/obo/GO_0006903 UBERON:0018229 biolink:AnatomicalEntity renin-angiotensin system A system consisting of renin, angiotensin-converting enzyme, and angiotensin II. Renin, an enzyme produced in the kidney, acts on angiotensinogen, an alpha-2 globulin produced by the liver, forming angiotensin I. The converting enzyme contained in the lung acts on angiotensin I in the plasma converting it to angiotensin II, the most powerful directly pressor substance known. It causes contraction of the arteriolar smooth muscle and has other indirect actions mediated through the adrenal cortex. MESH:D012084|FMA:74787 hp.json renin angiotensin system|renin angiotensin aldosterone system|renin-angiotensin system|renin-angiotensin-aldosterone system http://purl.obolibrary.org/obo/UBERON_0018229 pheno_slim GO:2000547 biolink:BiologicalProcess regulation of dendritic cell dendrite assembly Any process that modulates the frequency, rate or extent of dendritic cell dendrite assembly. hp.json regulation of dendritic extension http://purl.obolibrary.org/obo/GO_2000547 UBERON:0018227 biolink:AnatomicalEntity pulmonary lymphatic vessel A lymphatic vessel that is part of a lung. FMA:234006 hp.json lymphatic vessel of lung http://purl.obolibrary.org/obo/UBERON_0018227 human_reference_atlas GO:2000548 biolink:BiologicalProcess negative regulation of dendritic cell dendrite assembly Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell dendrite assembly. hp.json negative regulation of dendritic extension http://purl.obolibrary.org/obo/GO_2000548 GO:2000549 biolink:BiologicalProcess positive regulation of dendritic cell dendrite assembly Any process that activates or increases the frequency, rate or extent of dendritic cell dendrite assembly. hp.json positive regulation of dendritic extension http://purl.obolibrary.org/obo/GO_2000549 UBERON:0018226 biolink:AnatomicalEntity pulmonary part of lymphatic system An organ system subdivision that is the part of the lymphoid system that includes the pulmonary lymphatic vessels. FMA:67999 hp.json pulmonary lymphatic vasculature|pulmonary lymphatic chain http://purl.obolibrary.org/obo/UBERON_0018226 pheno_slim UBERON:0006245 biolink:AnatomicalEntity humerus cartilage element A humerus endochondral element that is composed primarily of cartilage tissue. EMAPA:17713|EHDAA:6240|VHOG:0001120|EHDAA2:0000787 hp.json humeral cartilage condensation http://purl.obolibrary.org/obo/UBERON_0006245 emapa_ehdaa2 UBERON:0006244 biolink:AnatomicalEntity hip joint primordium EHDAA:8462|EHDAA2:0000785|EMAPA:17739 hp.json http://purl.obolibrary.org/obo/UBERON_0006244 emapa_ehdaa2 UBERON:0006242 biolink:AnatomicalEntity gall bladder primordium A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. XAO:0004205|EHDAA2:0000700|EHDAA:3047|EMAPA:16713 hp.json http://purl.obolibrary.org/obo/UBERON_0006242 emapa_ehdaa2 UBERON:0006241 biolink:AnatomicalEntity future spinal cord EMAPA:16755|TAO:0000417|EHDAA:898|EFO:0003438|EHDAA2:0000674|ZFA:0000417|EMAPA:16092 hp.json presumptive spinal cord neural keel|presumptive spinal cord|presumptive spinal cord neural rod|presumptive spinal cord neural plate http://purl.obolibrary.org/obo/UBERON_0006241 vertebrate_core|efo_slim GO:0043931 biolink:BiologicalProcess ossification involved in bone maturation The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the skeleton from its formation to its mature state. hp.json ossification involved in skeletal development|ossification involved in bone modeling http://purl.obolibrary.org/obo/GO_0043931 UBERON:0006240 biolink:AnatomicalEntity future forebrain A presumptive structure that has the potential to develop into a forebrain. EMAPA:16640|EHDAA:2643|BAMS:Pros|EHDAA2:0000661|ZFA:0000062|EFO:0003423|Wikipedia:Prosencephalon|TAO:0000062 hp.json presumptive forebrain|future prosencephalon|prosencephalon|presumptive prosencephalon http://purl.obolibrary.org/obo/UBERON_0006240 vertebrate_core|emapa_ehdaa2|efo_slim NCBITaxon:436489 biolink:OrganismalEntity Saurischia GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_436489 GO:0043933 biolink:BiologicalProcess protein-containing complex organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. hp.json cellular macromolecular complex organization|protein-containing complex subunit organization|cellular macromolecular complex subunit organization|protein complex subunit organisation|macromolecular complex subunit organisation|protein complex subunit organization|macromolecular complex organization|cellular macromolecular complex subunit organisation|macromolecular complex subunit organization http://purl.obolibrary.org/obo/GO_0043933 NCBITaxon:436486 biolink:OrganismalEntity Dinosauria GC_ID:1 hp.json dinosaurs|dinosaur http://purl.obolibrary.org/obo/NCBITaxon_436486 GO:2000542 biolink:BiologicalProcess negative regulation of gastrulation Any process that stops, prevents or reduces the frequency, rate or extent of gastrulation. hp.json http://purl.obolibrary.org/obo/GO_2000542 GO:0043932 biolink:BiologicalProcess ossification involved in bone remodeling The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli. hp.json ossification involved in bone remodelling http://purl.obolibrary.org/obo/GO_0043932 GO:2000543 biolink:BiologicalProcess positive regulation of gastrulation Any process that activates or increases the frequency, rate or extent of gastrulation. hp.json http://purl.obolibrary.org/obo/GO_2000543 GO:0006909 biolink:BiologicalProcess phagocytosis A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. Wikipedia:Phagocytosis hp.json http://purl.obolibrary.org/obo/GO_0006909 GO:0006906 biolink:BiologicalProcess vesicle fusion Fusion of the membrane of a transport vesicle with its target membrane. hp.json http://purl.obolibrary.org/obo/GO_0006906 UBERON:0006248 biolink:AnatomicalEntity incus pre-cartilage condensation An incus endochondral element that is composed primarily of a pre-cartilage condensation. EMAPA:17825|EHDAA:9024|EHDAA2:0000813|VHOG:0000957 hp.json http://purl.obolibrary.org/obo/UBERON_0006248 emapa_ehdaa2 UBERON:0006247 biolink:AnatomicalEntity iliac pre-cartilage condensation An iliac endochondral element that is composed primarily of a pre-cartilage condensation. EMAPA:18029|EHDAA2:0000809|EHDAA:9568|VHOG:0000964 hp.json http://purl.obolibrary.org/obo/UBERON_0006247 emapa_ehdaa2 UBERON:0006246 biolink:AnatomicalEntity humerus pre-cartilage condensation A humerus endochondral element that is composed primarily of a pre-cartilage condensation. VHOG:0000950|EMAPA:17427|EHDAA:4192|EHDAA2:0000788 hp.json humeral pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0006246 emapa_ehdaa2 UBERON:0006234 biolink:AnatomicalEntity femur pre-cartilage condensation A femur endochondral element that is composed primarily of a pre-cartilage condensation. VHOG:0000951|EHDAA2:0000508|EMAPA:17502 hp.json femoral pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0006234 emapa_ehdaa2 UBERON:0006233 biolink:AnatomicalEntity female genital tubercle A differentiated genital tubercle that is part of a female reproductive system. VHOG:0000666|RETIRED_EHDAA2:0000500|EHDAA:8118|EMAPA:18680 hp.json genital tubercle of female http://purl.obolibrary.org/obo/UBERON_0006233 emapa_ehdaa2 UBERON:0006232 biolink:AnatomicalEntity facio-acoustic VII-VIII preganglion complex RETIRED_EHDAA2:0000496|EHDAA:1477|VHOG:0000715|EMAPA:16660 hp.json facio-acoustic preganglion complex http://purl.obolibrary.org/obo/UBERON_0006232 emapa_ehdaa2 CHEBI:28260 biolink:ChemicalSubstance galactose An aldohexose that is the C-4 epimer of glucose. CAS:26566-61-0|Wikipedia:Galactose|CAS:26566-61-0|KEGG:C01582 hp.json Gal|galactose|Galactose|Galaktose|galacto-hexose http://purl.obolibrary.org/obo/CHEBI_28260 3_STAR UBERON:0006230 biolink:AnatomicalEntity extrinsic ocular pre-muscle mass EMAPA:17845|EHDAA:2925|EHDAA2:0000483 hp.json http://purl.obolibrary.org/obo/UBERON_0006230 emapa_ehdaa2 CHEBI:16247 biolink:ChemicalSubstance phospholipid A lipid containing phosphoric acid as a mono- or di-ester. The term encompasses phosphatidic acids and phosphoglycerides. KEGG:C00865 hp.json a phospholipid derivative|phospholipids|Phospholipid http://purl.obolibrary.org/obo/CHEBI_16247 3_STAR OBO:chebi#is_tautomer_of biolink:NamedThing is tautomer of hp.json http://purl.obolibrary.org/obo/chebi#is_tautomer_of UBERON:0006239 biolink:AnatomicalEntity future central tendon A tendon that has the potential to develop into a central tendon. EHDAA2:0000593|EMAPA:25035|EHDAA:4118 hp.json cranial derivative of septum transversum|cranial derivative of septum transversum|cranial part of septum transversum|cranial part of septum transversum http://purl.obolibrary.org/obo/UBERON_0006239 emapa_ehdaa2 UBERON:0006238 biolink:AnatomicalEntity future brain The embryonic precursor of the brain. FMA:312967|BAMS:Enc|EFO:0003431|ZFA:0000146|EHDAA:830|EMAPA:16089|TAO:0000146|BTO:0004726|EHDAA:300|RETIRED_EHDAA2:0000591 hp.json brain rudiment|presumptive brain|embryonic brain|encephalon http://purl.obolibrary.org/obo/UBERON_0006238 efo_slim|cumbo|vertebrate_core|emapa_ehdaa2 NCBITaxon:436491 biolink:OrganismalEntity Theropoda GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_436491 NCBITaxon:436492 biolink:OrganismalEntity Coelurosauria GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_436492 UBERON:0008895 biolink:AnatomicalEntity splanchnocranium Subdivision of endoskeleton derived from pharyngeal arches. ZFA:0001216|TAO:0001216|Wikipedia:Facial_skeleton|AAO:0010157|XAO:0003176|VSAO:0000149|VHOG:0000315 hp.json gill arch skeleton|branchial arch skeleton|viscerocranium|pharyngeal arch|pharyngeal skeleton|visceral skeletal system|visceral cranium|visceral skeletal system|visceral cranium|pharyngeal endoskeleton|pharyngeal endoskeleton|viscerocranium|pharyngeal arch skeleton|visceral skeleton http://purl.obolibrary.org/obo/UBERON_0008895 GO:0006915 biolink:BiologicalProcess apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. Wikipedia:Apoptosis hp.json apoptosis|type I programmed cell death|signaling (initiator) caspase activity|cell suicide|apoptosis activator activity|caspase-dependent programmed cell death|commitment to apoptosis|induction of apoptosis|apoptosis signaling|apoptotic programmed cell death|apoptotic cell death|cellular suicide|apoptotic program|programmed cell death by apoptosis|induction of apoptosis by p53|activation of apoptosis http://purl.obolibrary.org/obo/GO_0006915 UBERON:0006236 biolink:AnatomicalEntity tetrapod frontal bone primordium FMA:312589|EHDAA:9540|EMAPA:18017|EHDAA2:0000577 hp.json frontal bone primordium http://purl.obolibrary.org/obo/UBERON_0006236 emapa_ehdaa2 UBERON:0006235 biolink:AnatomicalEntity foregut-midgut junction An anatomical junctions that overlaps the foregut and midgut. EHDAA:526|EHDAA2:0000569|EMAPA:16363|VHOG:0000291 hp.json http://purl.obolibrary.org/obo/UBERON_0006235 emapa_ehdaa2 UBERON:0008896 biolink:AnatomicalEntity post-hyoid pharyngeal arch A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher. AAO:0010362|ZFA:0001613|EFO:0003694|BTO:0002152|SCTID:308766004|XAO:0000099|TAO:0001597 hp.json visceral arches 3-7|branchial bar|branchial arches|branchial arch|gill arch|gill bar|branchial bars|pharyngeal arch 3-7|gill arches 1-5|gill bar http://purl.obolibrary.org/obo/UBERON_0008896 efo_slim CL:0008030 biolink:Cell excitatory neuron hp.json http://purl.obolibrary.org/obo/CL_0008030 UBERON:8420000 biolink:AnatomicalEntity hair of scalp Hair that grows on the scalp. hp.json hair http://purl.obolibrary.org/obo/UBERON_8420000 CHEBI:65296 biolink:ChemicalSubstance primary ammonium ion An ammonium ion derivative resulting from the protonation of the nitrogen atom of a primary amino compound. Major species at pH 7.3. hp.json substituted ammonium|a primary amine http://purl.obolibrary.org/obo/CHEBI_65296 3_STAR UBERON:0008886 biolink:AnatomicalEntity pulmonary vascular system The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. FMA:45621|Wikipedia:Pulmonary_circulation hp.json pulmonary system|pulmonary circulatory system http://purl.obolibrary.org/obo/UBERON_0008886 UBERON:0008887 biolink:AnatomicalEntity rectal venous plexus The hemorrhoidal plexus (or rectal venous plexus) surrounds the rectum, and communicates in front with the vesical venous plexus in the male, and the uterovaginal plexus in the female. A free communication between the portal and systemic venous systems is established through the hemorrhoidal plexus. NCIT:C32728|FMA:18933|UMLS:C0226766 hp.json haemorrhoidal plexus|hemorrhoidal plexus|plexus haemorrhoidalis|plexus venosus rectalis http://purl.obolibrary.org/obo/UBERON_0008887 UBERON:0006222 biolink:AnatomicalEntity future diencephalon The foremost region of the future forebrain that develops into the diencephalon. EFO:0003442|EMAPA:16514|EHDAA:844|RETIRED_EHDAA2:0000386|EHDAA2:0000600|ZFA:0000574|TAO:0000574 hp.json presumptive diencephalon http://purl.obolibrary.org/obo/UBERON_0006222 efo_slim|vertebrate_core|emapa_ehdaa2 CL:0008028 biolink:Cell visual system neuron hp.json http://purl.obolibrary.org/obo/CL_0008028 CL:0008024 biolink:Cell pancreatic endocrine cell An endocrine cell that is part of the pancreas. hp.json http://purl.obolibrary.org/obo/CL_0008024 UBERON:0006227 biolink:AnatomicalEntity ethmoid bone primordium EHDAA:8363|FMA:312597|EHDAA2:0000456|EMAPA:18023 hp.json http://purl.obolibrary.org/obo/UBERON_0006227 emapa_ehdaa2 UBERON:0008882 biolink:AnatomicalEntity spinal cord commissure The nerve fiber tracts that span the midline of the spinal cord. EMAPA:37955 hp.json http://purl.obolibrary.org/obo/UBERON_0008882 pheno_slim UBERON:0008883 biolink:AnatomicalEntity osteoid Bone tissue that is an unmineralized bone matrix deposited by osteoblasts prior to the mineralization of bone tissue. galen:Osteoid|FMA:66830|VSAO:0000046|NCIT:C33228|EMAPA:37923|XAO:0004035|UMLS:C0682561 hp.json pre-bone|osteoid tissue|prebone tissue|prebone http://purl.obolibrary.org/obo/UBERON_0008883 pheno_slim UBERON:0008884 biolink:AnatomicalEntity left putamen A putamen that is part of a left cerebral hemisphere. FMA:72829|HBA:4288 hp.json http://purl.obolibrary.org/obo/UBERON_0008884 CL:0008022 biolink:Cell endocardial cushion cell A mesenchymal cell of the endocardial cushion. These cells develop via an epithelial to mesenchymal transition when endocardial cells break cell-to-cell contacts and migrate into the cardiac jelly. Cells from this population form the heart septa and valves. hp.json http://purl.obolibrary.org/obo/CL_0008022 UBERON:0008885 biolink:AnatomicalEntity right putamen A putamen that is part of a right cerebral hemisphere. FMA:72828|HBA:4289 hp.json http://purl.obolibrary.org/obo/UBERON_0008885 UBERON:0006224 biolink:AnatomicalEntity elbow joint primordium EHDAA:8483|EMAPA:17710|EHDAA2:0000431 hp.json http://purl.obolibrary.org/obo/UBERON_0006224 emapa_ehdaa2 UBERON:0006211 biolink:AnatomicalEntity buccopharyngeal membrane The thin bilaminar membrane derived from the prechordal plate that is devoid of mesoderm and formed by the apposition of the stomodeal ectoderm with the foregut endoderm; after the embryonic head fold has evolved it lies at the caudal limit of the stomodeum, forming a septum between the primitive mouth and pharynx; the membrane eventually disappears, and thus a communication is established between the mouth and the future pharynx. EHDAA2:0000189|FMA:313607|SCTID:361412007|Wikipedia:Buccopharyngeal_membrane|EMAPA:16259|EHDAA:536|VHOG:0000380 hp.json oral membrane|oral plate|pharyngeal membrane|oropharyngeal membrane|oropharyngeal membrane http://purl.obolibrary.org/obo/UBERON_0006211 pheno_slim|emapa_ehdaa2 UBERON:0008876 biolink:AnatomicalEntity hypodermis skeletal muscle layer Any skeletal muscle organ in the hypodermis / superficial fascia. MA:0003140|EMAPA:18188 hp.json panniculus carnosus|hypodermis muscle layer|hypodermal muscle layer|superficial fascia muscular layer http://purl.obolibrary.org/obo/UBERON_0008876 pheno_slim UBERON:0006210 biolink:AnatomicalEntity body-wall mesenchyme EHDAA:3217|EMAPA:16893|EHDAA2:0000179 hp.json http://purl.obolibrary.org/obo/UBERON_0006210 emapa_ehdaa2 UBERON:0008878 biolink:AnatomicalEntity palmar part of manus NCIT:C33252|FMA:24920|UMLS:C0931849|galen:Palm hp.json palm of hand|palm|palmar region|front of hand|regio palmaris http://purl.obolibrary.org/obo/UBERON_0008878 pheno_slim CL:0008035 biolink:Cell microcirculation associated smooth muscle cell hp.json http://purl.obolibrary.org/obo/CL_0008035 UBERON:0006219 biolink:AnatomicalEntity deltoid pre-muscle mass EHDAA2:0000340|EMAPA:17749|EHDAA:6002 hp.json http://purl.obolibrary.org/obo/UBERON_0006219 emapa_ehdaa2 UBERON:0006218 biolink:AnatomicalEntity common atrial chamber EMAPA:16342|EHDAA:1267|RETIRED_EHDAA2:0000268 hp.json http://purl.obolibrary.org/obo/UBERON_0006218 emapa_ehdaa2 UBERON:0006217 biolink:AnatomicalEntity cloacal membrane The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. EHDAA2:0000257|FMA:295525|UMLS:C0231056|EMAPA:16832|EHDAA:2933|VHOG:0001198|NCIT:C34128|EHDAA:214 hp.json membrana cloacalis|embryonic cloacal membrane http://purl.obolibrary.org/obo/UBERON_0006217 pheno_slim|emapa_ehdaa2 UBERON:0008870 biolink:AnatomicalEntity pulmonary alveolar parenchyma The distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages. EMAPA:37942 hp.json http://purl.obolibrary.org/obo/UBERON_0008870 human_reference_atlas|pheno_slim UBERON:0006215 biolink:AnatomicalEntity rhombic lip The posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system. ZFA:0001440|EHDAA2:0000231|EMAPA:17074|TAO:0001440|DHBA:10664|XAO:0004135 hp.json rostral rhombic lip|cerebellum primordium|cerebellar anlage|presumptive cerebellum|cerebellar primordium|dorsal part of alar plate of metencephalon|future cerebellum http://purl.obolibrary.org/obo/UBERON_0006215 pheno_slim|vertebrate_core UBERON:0006214 biolink:AnatomicalEntity carpus pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a carpal bone. EHDAA2:0000222|VHOG:0000955|EHDAA:6324|EMAPA:17724 hp.json carpal pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0006214 CL:0008034 biolink:Cell mural cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. hp.json http://purl.obolibrary.org/obo/CL_0008034 added_for_HCA UBERON:0006213 biolink:AnatomicalEntity carpus cartilage element A cartilaginous condensation that has the potential to develop into a carpal bone. EHDAA2:0000221|EHDAA:8544|VHOG:0001123|EMAPA:18102 hp.json carpal cartilage condensation http://purl.obolibrary.org/obo/UBERON_0006213 UBERON:0008874 biolink:AnatomicalEntity pulmonary acinus The part of the airway consisting of a respiratory bronchiole and all of its branches. EMAPA:37941|UMLS:C0225696|NCIT:C33426|FMA:7313 hp.json arbor alveolaris|respiratory lobule|acinus pulmonaris|lobulus pulmonis primarius|primary pulmonary lobule http://purl.obolibrary.org/obo/UBERON_0008874 pheno_slim|human_reference_atlas GO:0031987 biolink:BiologicalProcess locomotion involved in locomotory behavior Self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. hp.json locomotion during locomotory behaviour http://purl.obolibrary.org/obo/GO_0031987 HP:0025417 biolink:PhenotypicFeature Patulous urethra Urethra more open or expanded than normal. hp.json http://purl.obolibrary.org/obo/HP_0025417 HP:0025418 biolink:PhenotypicFeature Renal cortical necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. hp.json Necrosis of the kidney cortex http://purl.obolibrary.org/obo/HP_0025418 HP:0025419 biolink:PhenotypicFeature Pulmonary pneumatocele A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung. hp.json Pulmonary pneumatocoele http://purl.obolibrary.org/obo/HP_0025419 HP:0001449 biolink:PhenotypicFeature Duplication of metatarsal bones UMLS:C4025778 hp.json Duplication of long bones of foot http://purl.obolibrary.org/obo/HP_0001449 HP:0001442 biolink:PhenotypicFeature Somatic mosaicism The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. UMLS:C1866227 hp.json http://purl.obolibrary.org/obo/HP_0001442 HP:0001443 biolink:PhenotypicFeature Abnormality of the gluteal musculature UMLS:C4025782 hp.json Abnormality of glutes http://purl.obolibrary.org/obo/HP_0001443 HP:0025410 biolink:PhenotypicFeature Splenogonadal fusion Joining of the spleen and a gonad during embryological development. hp.json http://purl.obolibrary.org/obo/HP_0025410 HP:0001440 biolink:PhenotypicFeature Metatarsal synostosis UMLS:C1862697 hp.json Fusion of metatarsals|Fusion of the long bones of the feet|Synostosis involving metatarsal bones http://purl.obolibrary.org/obo/HP_0001440 HP:0001441 biolink:PhenotypicFeature Abnormality of the musculature of the thigh UMLS:C4025783 hp.json Abnormal thigh muscles http://purl.obolibrary.org/obo/HP_0001441 HP:0001446 biolink:PhenotypicFeature Abnormality of the musculature of the upper limbs UMLS:C4025779 hp.json Abnormal upper limb muscles http://purl.obolibrary.org/obo/HP_0001446 HP:0025413 biolink:PhenotypicFeature Fossa navicularis urethral stricture A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis. hp.json http://purl.obolibrary.org/obo/HP_0025413 HP:0025414 biolink:PhenotypicFeature Pendulous urethral stricture A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa. hp.json http://purl.obolibrary.org/obo/HP_0025414 HP:0001444 biolink:PhenotypicFeature Autosomal dominant somatic cell mutation Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body. UMLS:C4025781 hp.json http://purl.obolibrary.org/obo/HP_0001444 HP:0025415 biolink:PhenotypicFeature Bulbar urethral stricture A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis. hp.json http://purl.obolibrary.org/obo/HP_0025415 HP:0001445 biolink:PhenotypicFeature Abnormality of the hip-girdle musculature UMLS:C4025780 hp.json http://purl.obolibrary.org/obo/HP_0001445 HP:0025416 biolink:PhenotypicFeature Vaginal stricture A narrowing of the vagina owing to scar formation. hp.json http://purl.obolibrary.org/obo/HP_0025416 GO:0031982 biolink:CellularComponent vesicle Any small, fluid-filled, spherical organelle enclosed by membrane. Wikipedia:Vesicle_(biology)|NIF_Subcellular:sao221389602 hp.json membrane-bounded vesicle|membrane-enclosed vesicle http://purl.obolibrary.org/obo/GO_0031982 goslim_pir GO:0031981 biolink:CellularComponent nuclear lumen The volume enclosed by the nuclear inner membrane. hp.json http://purl.obolibrary.org/obo/GO_0031981 GO:0090289 biolink:BiologicalProcess regulation of osteoclast proliferation Any process that modulates the rate, frequency, or extent of the multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. hp.json http://purl.obolibrary.org/obo/GO_0090289 GO:0090290 biolink:BiologicalProcess positive regulation of osteoclast proliferation Any process that increases the rate, frequency, or extent of the multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. hp.json http://purl.obolibrary.org/obo/GO_0090290 GO:0031975 biolink:CellularComponent envelope A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers. hp.json http://purl.obolibrary.org/obo/GO_0031975 GO:0090291 biolink:BiologicalProcess negative regulation of osteoclast proliferation Any process that decreases the rate, frequency, or extent of the multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. hp.json http://purl.obolibrary.org/obo/GO_0090291 GO:0031974 biolink:CellularComponent membrane-enclosed lumen The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. hp.json http://purl.obolibrary.org/obo/GO_0031974 HP:0025406 biolink:PhenotypicFeature Asthenia A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. hp.json Lack of energy and strength|Prostration|Weakness http://purl.obolibrary.org/obo/HP_0025406 HP:0025407 biolink:PhenotypicFeature Rectourethral fistula An abnormal connection (fistula) between the rectum and the urethra. hp.json Urethrorectal fistula http://purl.obolibrary.org/obo/HP_0025407 HP:0001459 biolink:PhenotypicFeature 1-3 toe syndactyly Syndactyly with fusion of toes one to three. UMLS:C4025774 hp.json Webbed 1st-3rd toes http://purl.obolibrary.org/obo/HP_0001459 HP:0025408 biolink:PhenotypicFeature Abnormal spleen morphology Any anomaly of the structure of the spleen. hp.json Splenic lesion http://purl.obolibrary.org/obo/HP_0025408 HP:0025409 biolink:PhenotypicFeature Abnormal spleen physiology Any anomaly of the function of the spleen. hp.json http://purl.obolibrary.org/obo/HP_0025409 HP:0001454 biolink:PhenotypicFeature Abnormality of the upper arm UMLS:C4025776 hp.json http://purl.obolibrary.org/obo/HP_0001454 HP:0025400 biolink:PhenotypicFeature Nodular-random pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern. hp.json http://purl.obolibrary.org/obo/HP_0025400 HP:0025401 biolink:PhenotypicFeature Staring gaze An abnormality in which the eyes are held permanently wide open. hp.json Staring eyes http://purl.obolibrary.org/obo/HP_0025401 HP:0001452 biolink:PhenotypicFeature obsolete Autosomal dominant contiguous gene syndrome hp.json http://purl.obolibrary.org/obo/HP_0001452 HP:0001457 biolink:PhenotypicFeature Abnormality of the musculature of the upper arm UMLS:C4025775 hp.json http://purl.obolibrary.org/obo/HP_0001457 HP:0025402 biolink:PhenotypicFeature Square-wave jerks Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. hp.json http://purl.obolibrary.org/obo/HP_0025402 HP:0025403 biolink:PhenotypicFeature Stooped posture A habitual positioning of the body with the head and upper back bent forward. hp.json http://purl.obolibrary.org/obo/HP_0025403 HP:0025404 biolink:PhenotypicFeature Abnormal visual fixation Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. hp.json http://purl.obolibrary.org/obo/HP_0025404 HP:0025405 biolink:PhenotypicFeature Visual fixation instability A deficit in the ability to fixate eye movements in order to stabilize images on the retina hp.json Instability of ocular fixation http://purl.obolibrary.org/obo/HP_0025405 HP:0001450 biolink:PhenotypicFeature Y-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. UMLS:C0814045|MSH:D050173 hp.json monoallelic_Y_hemizygous|Y-linked http://purl.obolibrary.org/obo/HP_0001450 GO:0090299 biolink:BiologicalProcess regulation of neural crest formation Any process that modulates the rate, frequency, or extent of neural crest formation. Neural crest formation is the formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation proceeds. hp.json http://purl.obolibrary.org/obo/GO_0090299 GO:0031968 biolink:CellularComponent organelle outer membrane The outer, i.e. cytoplasm-facing in a cellular organelle, lipid bilayer of an organelle envelope. hp.json http://purl.obolibrary.org/obo/GO_0031968 GO:0031966 biolink:CellularComponent mitochondrial membrane Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. NIF_Subcellular:sao1045389829 hp.json http://purl.obolibrary.org/obo/GO_0031966 GO:0031967 biolink:CellularComponent organelle envelope A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes. hp.json http://purl.obolibrary.org/obo/GO_0031967 goslim_mouse GO:0031965 biolink:CellularComponent nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. NIF_Subcellular:sao1687101204 hp.json http://purl.obolibrary.org/obo/GO_0031965 HP:0001428 biolink:PhenotypicFeature Somatic mutation A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation. SNOMEDCT_US:124975008|UMLS:C0544886 hp.json http://purl.obolibrary.org/obo/HP_0001428 HP:0001426 biolink:PhenotypicFeature Multifactorial inheritance A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. UMLS:C0600599|MSH:D020412 hp.json Familial predisposition http://purl.obolibrary.org/obo/HP_0001426 HP:0001427 biolink:PhenotypicFeature Mitochondrial inheritance A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). UMLS:C0887941|MSH:D050259 hp.json mitochondrial|Mitochondrial http://purl.obolibrary.org/obo/HP_0001427 HP:0001421 biolink:PhenotypicFeature Abnormality of the musculature of the hand UMLS:C4025786 hp.json Abnormal hand muscles http://purl.obolibrary.org/obo/HP_0001421 HP:0001425 biolink:PhenotypicFeature obsolete Heterogeneous hp.json Genetic heterogeneity http://purl.obolibrary.org/obo/HP_0001425 GO:0016325 biolink:BiologicalProcess oocyte microtubule cytoskeleton organization Formation and maintenance of a polarized microtubule array originating from a microtubule-organizing center (MTOC) in the oocyte. An example of this is found in Drosophila melanogaster. hp.json oocyte microtubule cytoskeleton organisation http://purl.obolibrary.org/obo/GO_0016325 HP:0001423 biolink:PhenotypicFeature X-linked dominant inheritance A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. UMLS:C1847879 hp.json X-linked dominant http://purl.obolibrary.org/obo/HP_0001423 GO:0016321 biolink:BiologicalProcess female meiosis chromosome segregation The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female. hp.json http://purl.obolibrary.org/obo/GO_0016321 HP:0001437 biolink:PhenotypicFeature Abnormality of the musculature of the lower limbs UMLS:C4025784 hp.json http://purl.obolibrary.org/obo/HP_0001437 HP:0001438 biolink:PhenotypicFeature Abnormal abdomen morphology A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. UMLS:C4020869 hp.json Abdomen abnormality|Abnormality of abdomen morphology|Abnormality of the abdomen|Abnormality of abdomen structure http://purl.obolibrary.org/obo/HP_0001438 CHEBI:53291 biolink:ChemicalSubstance 2-halophenol A halophenol in which the halogen atom is bonded to the carbon atom adjacent to the C-OH group. hp.json 2-halophenols http://purl.obolibrary.org/obo/CHEBI_53291 3_STAR HP:0001430 biolink:PhenotypicFeature Abnormality of the calf musculature UMLS:C4021779 hp.json Abnormality of calf musculature|Abnormal calf muscles http://purl.obolibrary.org/obo/HP_0001430 HP:0001435 biolink:PhenotypicFeature Abnormality of the shoulder girdle musculature UMLS:C4021778 hp.json Abnormality of shoulder musculature http://purl.obolibrary.org/obo/HP_0001435 HP:0001436 biolink:PhenotypicFeature Abnormality of the foot musculature An anomaly of the musculature of foot. UMLS:C4025785 hp.json Abnormal foot muscles http://purl.obolibrary.org/obo/HP_0001436 HP:0001433 biolink:PhenotypicFeature Hepatosplenomegaly Simultaneous enlargement of the liver and spleen. SNOMEDCT_US:36760000|UMLS:C0019214 hp.json Enlarged liver and spleen http://purl.obolibrary.org/obo/HP_0001433 GO:0090275 biolink:BiologicalProcess negative regulation of somatostatin secretion Any process that decreases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. hp.json http://purl.obolibrary.org/obo/GO_0090275 GO:0090276 biolink:BiologicalProcess regulation of peptide hormone secretion Any process that modulates the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. hp.json http://purl.obolibrary.org/obo/GO_0090276 GO:0016331 biolink:BiologicalProcess morphogenesis of embryonic epithelium The process in which the anatomical structures of embryonic epithelia are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0016331 GO:0090273 biolink:BiologicalProcess regulation of somatostatin secretion Any process that modulates the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. hp.json http://purl.obolibrary.org/obo/GO_0090273 GO:0090274 biolink:BiologicalProcess positive regulation of somatostatin secretion Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. hp.json http://purl.obolibrary.org/obo/GO_0090274 CHEBI:507393 biolink:ChemicalSubstance taurine zwitterion The zwitterion formed from taurine by transfer of a proton from the sulfonyl to the amino group. It is the major species existing at physiological pH. PMID:17765547 hp.json taurine|2-azaniumylethane-1-sulfonate|2-ammonioethanesulfonate http://purl.obolibrary.org/obo/CHEBI_507393 3_STAR GO:0090277 biolink:BiologicalProcess positive regulation of peptide hormone secretion Any process that increases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. hp.json http://purl.obolibrary.org/obo/GO_0090277 GO:0090278 biolink:BiologicalProcess negative regulation of peptide hormone secretion Any process that decreases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. hp.json http://purl.obolibrary.org/obo/GO_0090278 GO:0031946 biolink:NamedThing regulation of glucocorticoid biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0031946 GO:0031947 biolink:NamedThing negative regulation of glucocorticoid biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0031947 GO:0031944 biolink:NamedThing negative regulation of glucocorticoid metabolic process hp.json http://purl.obolibrary.org/obo/GO_0031944 GO:0031945 biolink:NamedThing positive regulation of glucocorticoid metabolic process hp.json http://purl.obolibrary.org/obo/GO_0031945 GO:0031943 biolink:NamedThing regulation of glucocorticoid metabolic process hp.json http://purl.obolibrary.org/obo/GO_0031943 UBERON:0008817 biolink:AnatomicalEntity thymus primordium endoderm An endoderm that is part of a thymus primordium. hp.json http://purl.obolibrary.org/obo/UBERON_0008817 GO:0031948 biolink:NamedThing positive regulation of glucocorticoid biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0031948 HP:0025453 biolink:PhenotypicFeature Delayed adrenarche Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development. hp.json http://purl.obolibrary.org/obo/HP_0025453 HP:0025454 biolink:PhenotypicFeature Abnormal CSF metabolite concentration Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. hp.json Abnormal cerebrospinal fluid metabolite concentration|Abnormal CSF metabolite level http://purl.obolibrary.org/obo/HP_0025454 HP:0001487 biolink:PhenotypicFeature obsolete Hypopigmented fundi hp.json http://purl.obolibrary.org/obo/HP_0001487 HP:0025455 biolink:PhenotypicFeature Decreased CSF 5-hydroxyindolacetic acid CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal. hp.json Decreased CSF 5-HIAA|Low CSF 5-HIAA|Low CSF 5-hydroxyindolacetic acid http://purl.obolibrary.org/obo/HP_0025455 UBERON:0008823 biolink:AnatomicalEntity neural tube derived brain A brain that develops_from a neural tube. hp.json vertebrate brain http://purl.obolibrary.org/obo/UBERON_0008823 HP:0025456 biolink:PhenotypicFeature Abnormal CSF protein level Any deviation from the normal range of a protein concentration in the cerebrospinal fluid. hp.json http://purl.obolibrary.org/obo/HP_0025456 UBERON:0008824 biolink:AnatomicalEntity duct of epididymis Any duct branching of of the main epididymis duct. MA:0001735|UMLS:C0458632|FMA:18297|NCIT:C32484|EMAPA:36525 hp.json epididymal duct|epididymis duct http://purl.obolibrary.org/obo/UBERON_0008824 GO:0016301 biolink:MolecularActivity kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. Reactome:R-HSA-6788867|Reactome:R-HSA-6788855 hp.json phosphokinase activity http://purl.obolibrary.org/obo/GO_0016301 goslim_plant|goslim_drosophila|goslim_chembl|goslim_metagenomics|goslim_yeast HP:0025457 biolink:PhenotypicFeature Decreased CSF protein CSF total protein level is below the lower limit of normal. hp.json Hypoproteinorrhachia|Decreased cerebrospinal fluid total protein|Low CSF total protein http://purl.obolibrary.org/obo/HP_0025457 HP:0025458 biolink:PhenotypicFeature Decreased CSF albumin concentration CSF albumin level is below the lower limit of normal. hp.json Low CSF albumin http://purl.obolibrary.org/obo/HP_0025458 HP:0025459 biolink:PhenotypicFeature Increased CSF/serum albumin ratio An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. hp.json http://purl.obolibrary.org/obo/HP_0025459 HP:0001488 biolink:PhenotypicFeature Bilateral ptosis UMLS:C1865916 hp.json Drooping of both upper eyelids http://purl.obolibrary.org/obo/HP_0001488 HP:0001489 biolink:PhenotypicFeature Posterior vitreous detachment Separation of the vitreous humor from the retina. SNOMEDCT_US:247081001|UMLS:C0423361|MSH:D020255 hp.json Vitreous detachment http://purl.obolibrary.org/obo/HP_0001489 HP:0001482 biolink:PhenotypicFeature Subcutaneous nodule Slightly elevated lesions on or in the skin with a diameter of over 5 mm. UMLS:C0151811|UMLS:C0746926|SNOMEDCT_US:95325000 hp.json Growth of abnormal tissue under the skin|Firm lump under the skin|Nodule below the skin|Subcutaneous nodules|Multiple, subcutaneous nodules http://purl.obolibrary.org/obo/HP_0001482 hposlim_core HP:0001483 biolink:PhenotypicFeature Eye poking Repetitive pressing, poking, and/or rubbing in the eyes. UMLS:C0233593|SNOMEDCT_US:78894008 hp.json Oculodigital phenomenon|Ocular auto-stimulation http://purl.obolibrary.org/obo/HP_0001483 HP:0001480 biolink:PhenotypicFeature Freckling The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. SNOMEDCT_US:403536009|SNOMEDCT_US:699225003|MSH:D008548|UMLS:C0016689 hp.json Freckling http://purl.obolibrary.org/obo/HP_0001480 HP:0025451 biolink:PhenotypicFeature Testicular adrenal rest tumor Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. hp.json Testicular adrenal rest tumour http://purl.obolibrary.org/obo/HP_0025451 HP:0025452 biolink:PhenotypicFeature Pyoderma gangrenosum A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer. hp.json http://purl.obolibrary.org/obo/HP_0025452 GO:0006997 biolink:BiologicalProcess nucleus organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus. hp.json nuclear organization and biogenesis|nuclear organisation|nucleus organization and biogenesis|nuclear morphology|nuclear organization http://purl.obolibrary.org/obo/GO_0006997 goslim_pir|goslim_aspergillus|goslim_drosophila|goslim_yeast|goslim_candida GO:0004333 biolink:MolecularActivity fumarate hydratase activity Catalysis of the reaction: (S)-malate = fumarate + H(2)O. MetaCyc:FUMHYDR-RXN|RHEA:12460|Reactome:R-HSA-451033|KEGG_REACTION:R01082|EC:4.2.1.2|Reactome:R-HSA-70982 hp.json (S)-malate hydro-lyase activity|(S)-malate hydro-lyase (fumarate-forming)|L-malate hydro-lyase activity|fumarase activity http://purl.obolibrary.org/obo/GO_0004333 GO:0006998 biolink:BiologicalProcess nuclear envelope organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear envelope. hp.json nuclear envelope organization and biogenesis|nuclear envelope organisation http://purl.obolibrary.org/obo/GO_0006998 GO:0006996 biolink:BiologicalProcess organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. hp.json single-organism organelle organization|organelle organization and biogenesis|organelle organisation|single organism organelle organization http://purl.obolibrary.org/obo/GO_0006996 goslim_pir|goslim_aspergillus|goslim_candida UBERON:0008810 biolink:AnatomicalEntity nasopalatine nerve A branch of that maxillary nerve that innervates the mucous membrane of the hard palate. BAMS:npal|FMA:52797 hp.json Scarpa's nerve|naso-palatine nerve|nasopalatine nerves|nervus nasopalatinus|nasopalatine http://purl.obolibrary.org/obo/UBERON_0008810 HP:0001498 biolink:PhenotypicFeature Carpal bone hypoplasia Underdevelopment of one or more carpal bones. UMLS:C4280594|UMLS:C1863749 hp.json Hypoplastic carpal bones|Hypoplasia of carpal bones|Small carpal bones|Small wrist bones|Small carpals http://purl.obolibrary.org/obo/HP_0001498 hposlim_core HP:0025443 biolink:PhenotypicFeature Abnormal cardiac atrial physiology An abnormality of the function of the cardiac atria. hp.json http://purl.obolibrary.org/obo/HP_0025443 UBERON:0008811 biolink:AnatomicalEntity intromittent organ An external organ of a male organism that is specialized to deliver sperm during copulation. Intromittent organs are found most often in terrestrial species, as most aquatic species fertilize their eggs externally, although there are exceptions[WP]. TGMA:0000585|FBbt:00004850|TAO:0002036|AAO:0010255|HAO:0000091 hp.json aedeagus|penis|copulatory organ http://purl.obolibrary.org/obo/UBERON_0008811 organ_slim|grouping_class HP:0025444 biolink:PhenotypicFeature Reduced amygdala volume A decrease in the volume (size) of the amygdyla. hp.json Decrease in amygdala volume http://purl.obolibrary.org/obo/HP_0025444 HP:0001495 biolink:PhenotypicFeature Carpal osteolysis Osteolysis affecting carpal bones. UMLS:C1833734 hp.json Carpal bone osteolysis http://purl.obolibrary.org/obo/HP_0001495 hposlim_core HP:0025445 biolink:PhenotypicFeature Morphological abnormality of the papillary muscles Any structural anomaly of the papillary muscles of the left ventricle. hp.json http://purl.obolibrary.org/obo/HP_0025445 HP:0025446 biolink:PhenotypicFeature Anomalous insertion of papillary muscle directly into anterior mitral leaflet A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet. hp.json http://purl.obolibrary.org/obo/HP_0025446 HP:0025447 biolink:PhenotypicFeature Displacement of the papillary muscles Abnormal location of the insertion of a papillary muscle into the left ventricular wall. hp.json http://purl.obolibrary.org/obo/HP_0025447 UBERON:0008814 biolink:AnatomicalEntity pharyngeal arch system A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. UMLS:C1519038|FMA:293041|NCIT:C34248|EHDAA2:0000187 hp.json pharyngeal complex|pharyngeal system|pharyngeal arches and clefts|embryonic pharyngeal complex|pharyngeal arch region|pharyngeal apparatus|pharyngeal arch complex http://purl.obolibrary.org/obo/UBERON_0008814 HP:0025448 biolink:PhenotypicFeature Anterior displacement of the papillary muscles Abnormally anterior location of the papillary muscles of the left ventricle. hp.json Anteriorly displaced papillary muscles http://purl.obolibrary.org/obo/HP_0025448 UBERON:0008816 biolink:AnatomicalEntity embryonic head A head that is part of a embryo. FMA:293011|CALOHA:TS-0246|FBbt:00000155 hp.json http://purl.obolibrary.org/obo/UBERON_0008816 non_informative HP:0025449 biolink:PhenotypicFeature Apically displaced anterolateral papillary muscle Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, hp.json Apically displaced papillary muscles http://purl.obolibrary.org/obo/HP_0025449 GO:0016310 biolink:BiologicalProcess phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. Wikipedia:Phosphorylation hp.json http://purl.obolibrary.org/obo/GO_0016310 goslim_chembl|goslim_metagenomics GO:0016311 biolink:BiologicalProcess dephosphorylation The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. Wikipedia:Dephosphorylation hp.json http://purl.obolibrary.org/obo/GO_0016311 HP:0001493 biolink:PhenotypicFeature Falciform retinal fold An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. SNOMEDCT_US:204181009|UMLS:C0344550 hp.json Congenital retinal fold http://purl.obolibrary.org/obo/HP_0001493 HP:0025440 biolink:PhenotypicFeature Warm reactive autoantibody positivity Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C. hp.json http://purl.obolibrary.org/obo/HP_0025440 HP:0001491 biolink:PhenotypicFeature Congenital fibrosis of extraocular muscles Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. MSH:C580012|UMLS:C1302995|SNOMEDCT_US:400946004 hp.json Congenital fibrosis of the extraocular muscles|Congenital ophthalmoplegia|CFEOM http://purl.obolibrary.org/obo/HP_0001491 hposlim_core HP:0025441 biolink:PhenotypicFeature Achilles tendon calcification Ectopic deposition of calcium salts in the Achilles tendon. hp.json Calcification of the Achilles tendon http://purl.obolibrary.org/obo/HP_0025441 HP:0001492 biolink:PhenotypicFeature Axenfeld anomaly Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. UMLS:C0266548|MSH:C535679|SNOMEDCT_US:204152008 hp.json http://purl.obolibrary.org/obo/HP_0001492 hposlim_core HP:0025439 biolink:PhenotypicFeature Pharyngitis Inflammation (due to infection or irritation) of the pharynx. hp.json http://purl.obolibrary.org/obo/HP_0025439 CHEBI:65212 biolink:ChemicalSubstance polysaccharide derivative A carbohydrate derivative that is any derivative of a polysaccharide. hp.json polysaccharide derivatives http://purl.obolibrary.org/obo/CHEBI_65212 3_STAR HP:0001464 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the shoulder musculature Absence or underdevelopment of the muscles of the shoulder. UMLS:C4025772 hp.json Absent/small shoulder muscles|Absent/underdeveloped shoulder muscles http://purl.obolibrary.org/obo/HP_0001464 HP:0025431 biolink:PhenotypicFeature Staccato cry A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations. hp.json http://purl.obolibrary.org/obo/HP_0025431 HP:0001465 biolink:PhenotypicFeature Amyotrophy involving the shoulder musculature UMLS:C4025771 hp.json Shoulder muscle degeneration|Wasting of shoulder muscles http://purl.obolibrary.org/obo/HP_0001465 HP:0025432 biolink:PhenotypicFeature Acanthoma A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm. hp.json http://purl.obolibrary.org/obo/HP_0025432 HP:0025433 biolink:PhenotypicFeature Decreased lecithin cholesterol acyl transferase level Reduced level of the enzyme lecithin cholesterol acyl transferase. hp.json http://purl.obolibrary.org/obo/HP_0025433 UBERON:0008801 biolink:AnatomicalEntity parotid gland primordium EHDAA:9246|EHDAA2:0001413 hp.json http://purl.obolibrary.org/obo/UBERON_0008801 HP:0025434 biolink:PhenotypicFeature Reduced hemolytic complement activity A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. hp.json Reduced CH50 http://purl.obolibrary.org/obo/HP_0025434 HP:0025435 biolink:PhenotypicFeature Increased circulating lactate dehydrogenase concentration An elevated level of the enzyme lactate dehydrogenase in the blood circulation. hp.json Increased lactate dehydrogenase level http://purl.obolibrary.org/obo/HP_0025435 HP:0001468 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the musculature of the upper arm Absence or underdevelopment of the muscles of the upper arm. UMLS:C4025769 hp.json Absent/small upper arm muscles|Absent/underdeveloped upper arm muscles http://purl.obolibrary.org/obo/HP_0001468 HP:0001469 biolink:PhenotypicFeature Abnormal morphology of the pelvis musculature UMLS:C4025768 hp.json Abnormality of the musculature of the pelvis http://purl.obolibrary.org/obo/HP_0001469 HP:0025436 biolink:PhenotypicFeature Elevated serum 11-deoxycortisol Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. hp.json Elevated serum deoxycorticosterone|Elevated serum 21-hydroxyprogesterone http://purl.obolibrary.org/obo/HP_0025436 UBERON:0008803 biolink:AnatomicalEntity skin of cheek A zone of skin that is part of a cheek. FMA:24759 hp.json cheek skin http://purl.obolibrary.org/obo/UBERON_0008803 pheno_slim HP:0001466 biolink:PhenotypicFeature Contiguous gene syndrome A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes UMLS:C1855496 hp.json http://purl.obolibrary.org/obo/HP_0001466 HP:0025437 biolink:PhenotypicFeature Macrocephalic sperm head Increased size of the head of sperm. hp.json http://purl.obolibrary.org/obo/HP_0025437 UBERON:0008805 biolink:AnatomicalEntity gingival groove The gingival sulcus is an area of potential space between a tooth and the surrounding gingival tissue and is lined by sulcular epithelium. The depth of the sulcus (Latin for groove) is bounded by two entities: apically by the gingival fibers of the connective tissue attachment and coronally by the free gingival margin. FMA:74580|NCIT:C114645 hp.json gingival sulcus|sulcus gingivalis|sulcus gingivalis|tooth-gingiva interface http://purl.obolibrary.org/obo/UBERON_0008805 HP:0001467 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the musculature of the upper limbs Absence or underdevelopment of the musculature of the upper limbs. UMLS:C4025770 hp.json Absent/small upper limb muscles|Absent/underdeveloped upper limb muscles http://purl.obolibrary.org/obo/HP_0001467 HP:0001460 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the skeletal musculature Absence or underdevelopment of the musculature. UMLS:C4025773 hp.json Absent/small skeletal muscles|Absent/underdeveloped skeletal muscles http://purl.obolibrary.org/obo/HP_0001460 HP:0025430 biolink:PhenotypicFeature High-pitched cry A type of crying in an abnormally high-pitched voice. hp.json http://purl.obolibrary.org/obo/HP_0025430 GO:0006974 biolink:BiologicalProcess cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. hp.json DNA damage response|cellular DNA damage response|response to genotoxic stress|response to DNA damage stimulus http://purl.obolibrary.org/obo/GO_0006974 goslim_yeast HP:0025428 biolink:PhenotypicFeature Bronchospasm A spasm (sudden, involuntary constriction) of the bronchioles. hp.json http://purl.obolibrary.org/obo/HP_0025428 HP:0025429 biolink:PhenotypicFeature Abnormal cry Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. hp.json http://purl.obolibrary.org/obo/HP_0025429 HP:0025420 biolink:PhenotypicFeature Diffuse alveolar hemorrhage A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. hp.json Diffuse alveolar haemorrhage http://purl.obolibrary.org/obo/HP_0025420 HP:0001475 biolink:PhenotypicFeature Male-limited expression Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex. UMLS:C4025764 hp.json http://purl.obolibrary.org/obo/HP_0001475 HP:0001476 biolink:PhenotypicFeature Delayed closure of the anterior fontanelle A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. SNOMEDCT_US:295091000119100|UMLS:C4072831|UMLS:C3840083 hp.json Delayed closure anterior fontanel|Delayed closure of the soft spot on the skull|Late closure of the bregma sutures|Late closure of anterior fontanelle|Delayed closure of the bregma sutures|Delayed closure of anterior fontanelle|Late closure of large anterior fontanel|Persistent anterior fontanelle|Late closure of soft spot on the skull|Later than typical closing of soft spot of skull http://purl.obolibrary.org/obo/HP_0001476 HP:0025421 biolink:PhenotypicFeature Pneumomediastinum The presence of free air in the mediastinum. hp.json http://purl.obolibrary.org/obo/HP_0025421 HP:0001473 biolink:PhenotypicFeature Metatarsal osteolysis Osteolysis involving metatarsal bones. UMLS:C1854614 hp.json Osteolysis involving metatarsal bones http://purl.obolibrary.org/obo/HP_0001473 HP:0025422 biolink:PhenotypicFeature Pleural cyst A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance. hp.json http://purl.obolibrary.org/obo/HP_0025422 GO:0018958 biolink:BiologicalProcess phenol-containing compound metabolic process The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. UM-BBD_pathwayID:phe hp.json hydroxybenzene metabolism|carbolic acid metabolic process|phenol-containing compound metabolism|carbolic acid metabolism|hydroxybenzene metabolic process http://purl.obolibrary.org/obo/GO_0018958 HP:0025423 biolink:PhenotypicFeature Abnormal larynx morphology Any anomaly of the structure of the larynx. hp.json http://purl.obolibrary.org/obo/HP_0025423 HP:0001474 biolink:PhenotypicFeature Sclerotic scapulae Increased density of the bony tissue of the scapula. UMLS:C1849263 hp.json http://purl.obolibrary.org/obo/HP_0001474 hposlim_core HP:0025424 biolink:PhenotypicFeature Abnormal larynx physiology Any anomaly of the function of the larynx. hp.json http://purl.obolibrary.org/obo/HP_0025424 HP:0025425 biolink:PhenotypicFeature Laryngospasm A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe. hp.json http://purl.obolibrary.org/obo/HP_0025425 HP:0001477 biolink:PhenotypicFeature Compensatory chin elevation A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. UMLS:C1846911 hp.json Compensatory head tilt/chin elevation http://purl.obolibrary.org/obo/HP_0001477 HP:0025426 biolink:PhenotypicFeature Abnormal bronchus morphology Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. hp.json Abnormality of the bronchi http://purl.obolibrary.org/obo/HP_0025426 HP:0025427 biolink:PhenotypicFeature Abnormal bronchus physiology Any anomaly of the function of the bronchi. hp.json http://purl.obolibrary.org/obo/HP_0025427 HP:0001471 biolink:PhenotypicFeature Aplasia/Hypoplasia of the musculature of the pelvis UMLS:C4025766 hp.json Absent/small pelvis muscles|Absent/underdeveloped pelvis muscles http://purl.obolibrary.org/obo/HP_0001471 HP:0001472 biolink:PhenotypicFeature obsolete Familial predisposition hp.json http://purl.obolibrary.org/obo/HP_0001472 HP:0001470 biolink:PhenotypicFeature Sex-limited expression Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex. UMLS:C4025767 hp.json http://purl.obolibrary.org/obo/HP_0001470 HP:0001604 biolink:PhenotypicFeature Vocal cord paresis Decreased strength of the vocal folds. SNOMEDCT_US:445424004|SNOMEDCT_US:302912005|UMLS:C0751576|MSH:D014826|UMLS:C1843187|UMLS:C1853729|UMLS:C1832690 hp.json Weakness of the vocal cords|Hoarse voice due to vocal cord paresis|Vocal cord paresis in severe cases http://purl.obolibrary.org/obo/HP_0001604 OBI:0002600 biolink:NamedThing collecting specimen with swab A specimen collection process that uses a swab as the collection device. A swab is an absorbent material (e.g. cotton) on a rod (e.g., wooden stick). hp.json http://purl.obolibrary.org/obo/OBI_0002600 HP:0001605 biolink:PhenotypicFeature Vocal cord paralysis A loss of the ability to move the vocal folds. SNOMEDCT_US:302912005|UMLS:C0042928|UMLS:C1854345|MSH:D014826 hp.json Inability to move vocal cords|Laryngeal paralysis http://purl.obolibrary.org/obo/HP_0001605 HP:0001602 biolink:PhenotypicFeature Laryngeal stenosis Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. UMLS:C0023075|MSH:D007829|SNOMEDCT_US:75547007 hp.json http://purl.obolibrary.org/obo/HP_0001602 HP:0001608 biolink:PhenotypicFeature Abnormality of the voice UMLS:C4021776 hp.json Voice abnormality|Abnormality of the voice http://purl.obolibrary.org/obo/HP_0001608 HP:0001609 biolink:PhenotypicFeature Hoarse voice Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. SNOMEDCT_US:50219008|UMLS:C0019825|MSH:D006685|UMLS:C1854348 hp.json Husky voice|Hoarseness|Hoarse voice http://purl.obolibrary.org/obo/HP_0001609 HP:0001606 biolink:PhenotypicFeature obsolete Vocal cord paralysis (caused by tumor impingement) hp.json http://purl.obolibrary.org/obo/HP_0001606 HP:0001607 biolink:PhenotypicFeature Subglottic stenosis SNOMEDCT_US:22668006|UMLS:C0238441 hp.json http://purl.obolibrary.org/obo/HP_0001607 HP:0001600 biolink:PhenotypicFeature Abnormality of the larynx An abnormality of the larynx. UMLS:C4021777 hp.json Laryngeal anomalies|Laryngeal abnormalities http://purl.obolibrary.org/obo/HP_0001600 HP:0001601 biolink:PhenotypicFeature Laryngomalacia Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. MSH:D055092|SNOMEDCT_US:38086007|UMLS:C0264303 hp.json Softening of voice box tissue http://purl.obolibrary.org/obo/HP_0001601 HP:0001615 biolink:PhenotypicFeature Hoarse cry UMLS:C2678303 hp.json Hoarse cry http://purl.obolibrary.org/obo/HP_0001615 HP:0001613 biolink:PhenotypicFeature obsolete Hoarse voice (caused by tumor impingement) hp.json http://purl.obolibrary.org/obo/HP_0001613 HP:0001618 biolink:PhenotypicFeature Dysphonia An impairment in the ability to produce voice sounds. SNOMEDCT_US:47004009|MSH:D055154|UMLS:C1527344 hp.json Inability to produce voice sounds|Voice change http://purl.obolibrary.org/obo/HP_0001618 HP:0001611 biolink:PhenotypicFeature Nasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech. UMLS:C0454555|SNOMEDCT_US:289190003|UMLS:C0566620|SNOMEDCT_US:229645001 hp.json Hypernasal speech|Nasal voice|Hypernasal voice|Nasal speech http://purl.obolibrary.org/obo/HP_0001611 HP:0001612 biolink:PhenotypicFeature Weak cry UMLS:C0234860|SNOMEDCT_US:2120003 hp.json http://purl.obolibrary.org/obo/HP_0001612 NCBITaxon:314145 biolink:OrganismalEntity Laurasiatheria hp.json http://purl.obolibrary.org/obo/NCBITaxon_314145 NCBITaxon:314146 biolink:OrganismalEntity Euarchontoglires PMID:15522813|PMID:11214319|PMID:12878460|GC_ID:1|PMID:12082125 hp.json http://purl.obolibrary.org/obo/NCBITaxon_314146 NCBITaxon:314147 biolink:OrganismalEntity Glires PMID:15522813|PMID:11214319|GC_ID:1|PMID:12082125 hp.json Rodents and rabbits http://purl.obolibrary.org/obo/NCBITaxon_314147 PR:P13379 biolink:Protein T-cell surface glycoprotein CD5 (mouse) A T-cell surface glycoprotein CD5 that is encoded in the genome of mouse. UniProtKB:P13379 hp.json CD5 (mouse)|Cd5|Ly-1|lymphocyte antigen 1 (mouse)|Lyt-1 (mouse)|mCD5 http://purl.obolibrary.org/obo/PR_P13379 GO:1905038 biolink:BiologicalProcess regulation of membrane lipid metabolic process Any process that modulates the frequency, rate or extent of membrane lipid metabolic process. hp.json regulation of membrane lipid metabolism http://purl.obolibrary.org/obo/GO_1905038 GO:0090435 biolink:BiologicalProcess protein localization to nuclear envelope A process in which a protein is transported to, or maintained at, a location within a nuclear envelope. hp.json protein localization in nuclear envelope http://purl.obolibrary.org/obo/GO_0090435 GO:1905039 biolink:BiologicalProcess carboxylic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. hp.json http://purl.obolibrary.org/obo/GO_1905039 HP:0025615 biolink:PhenotypicFeature Abscess hp.json http://purl.obolibrary.org/obo/HP_0025615 HP:0001648 biolink:PhenotypicFeature Cor pulmonale Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. UMLS:C0034072|SNOMEDCT_US:274096000|MSH:D011660|SNOMEDCT_US:83291003 hp.json http://purl.obolibrary.org/obo/HP_0001648 HP:0025616 biolink:PhenotypicFeature Sterile abscess An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms. hp.json http://purl.obolibrary.org/obo/HP_0025616 HP:0001649 biolink:PhenotypicFeature Tachycardia A rapid heartrate that exceeds the range of the normal resting heartrate for age. UMLS:C4020868|SNOMEDCT_US:86651002|UMLS:C0039231|SNOMEDCT_US:3424008|MSH:D013610 hp.json Racing heart|Increased heart rate|Rapid heart beat|Fast heart rate|Elevated heart rate|Heart racing http://purl.obolibrary.org/obo/HP_0001649 HP:0001646 biolink:PhenotypicFeature Abnormal aortic valve morphology Any abnormality of the aortic valve. Fyler:1400|UMLS:C3164445|Fyler:1408|SNOMEDCT_US:448743001 hp.json Abnormality of the aortic valve http://purl.obolibrary.org/obo/HP_0001646 HP:0025617 biolink:PhenotypicFeature Abnormal plasma cell count An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. hp.json http://purl.obolibrary.org/obo/HP_0025617 HP:0001647 biolink:PhenotypicFeature Bicuspid aortic valve The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). UMLS:C0149630|MSH:C562388|SNOMEDCT_US:72352009 hp.json Aortic valve has two leaflets rather than three http://purl.obolibrary.org/obo/HP_0001647 HP:0025618 biolink:PhenotypicFeature Reduced plasma cell count An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. hp.json http://purl.obolibrary.org/obo/HP_0025618 HP:0025619 biolink:PhenotypicFeature Elevated plasma cell count An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. hp.json http://purl.obolibrary.org/obo/HP_0025619 HP:0001640 biolink:PhenotypicFeature Cardiomegaly Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. SNOMEDCT_US:8186001|UMLS:C0018800|MSH:D006332 hp.json Increased heart size|Enlarged heart http://purl.obolibrary.org/obo/HP_0001640 HP:0001641 biolink:PhenotypicFeature Abnormal pulmonary valve morphology Any structural abnormality of the pulmonary valve. SNOMEDCT_US:448643005|UMLS:C3164374|Fyler:1602|Fyler:1600 hp.json Abnormality of the pulmonary valve|Anomaly of the pulmonary valve http://purl.obolibrary.org/obo/HP_0001641 HP:0025610 biolink:PhenotypicFeature Posterior blepharitis A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. hp.json Meibomian gland disease|Meibomian gland dysfunction http://purl.obolibrary.org/obo/HP_0025610 HP:0001644 biolink:PhenotypicFeature Dilated cardiomyopathy Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. MSH:D002311|SNOMEDCT_US:195021004|UMLS:C0007193|Fyler:1843|SNOMEDCT_US:399020009 hp.json DCM|Stretched and thinned heart muscle|Congestive cardiomyopathy|Cardiomyopathy, dilated http://purl.obolibrary.org/obo/HP_0001644 HP:0025611 biolink:PhenotypicFeature Epicanthus superciliaris A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). hp.json http://purl.obolibrary.org/obo/HP_0025611 HP:0001645 biolink:PhenotypicFeature Sudden cardiac death The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). MSH:D016757|SNOMEDCT_US:95281009|UMLS:C0085298 hp.json Premature sudden cardiac death|Sudden cardiac death http://purl.obolibrary.org/obo/HP_0001645 HP:0025612 biolink:PhenotypicFeature Corneal astigmatism A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. hp.json http://purl.obolibrary.org/obo/HP_0025612 HP:0001642 biolink:PhenotypicFeature Pulmonic stenosis A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). UMLS:C1956257|SNOMEDCT_US:56786000|MSH:D011666|Fyler:1611 hp.json Pulmonary valve stenosis|Pulmonary stenosis|Pulmonic valve stenosis|Narrowing of pulmonic valve http://purl.obolibrary.org/obo/HP_0001642 HP:0025613 biolink:PhenotypicFeature Focal emotional seizure Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. hp.json Affective seizure|Focal affective seizure|Partial emotional seizure|Emotional seizure http://purl.obolibrary.org/obo/HP_0025613 HP:0001643 biolink:PhenotypicFeature Patent ductus arteriosus In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. UMLS:C0013274|Fyler:2100|SNOMEDCT_US:83330001|MSH:D004374 hp.json Patent ductus Botalli|PDA|Persistent arterial duct|Persistent ductus arteriosus|Ductus arteriosus http://purl.obolibrary.org/obo/HP_0001643 HP:0025604 biolink:PhenotypicFeature Orbital schwannoma A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit. hp.json http://purl.obolibrary.org/obo/HP_0025604 HP:0001659 biolink:PhenotypicFeature Aortic regurgitation An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. UMLS:C0003504|SNOMEDCT_US:60234000|MSH:D001022 hp.json Aortic insufficiency|Aortic valve regurgitation http://purl.obolibrary.org/obo/HP_0001659 GO:1905063 biolink:BiologicalProcess regulation of vascular associated smooth muscle cell differentiation Any process that modulates the frequency, rate or extent of vascular smooth muscle cell differentiation. hp.json regulation of VSMC differentiation|regulation of vascular smooth muscle cell differentiation http://purl.obolibrary.org/obo/GO_1905063 HP:0025605 biolink:PhenotypicFeature Lid lag on downgaze Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. hp.json Lid lag|Eyelid lag|von Graefe sign http://purl.obolibrary.org/obo/HP_0025605 GO:1905064 biolink:BiologicalProcess negative regulation of vascular associated smooth muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell differentiation. hp.json downregulation of vascular smooth muscle cell differentiation|down regulation of VSMC differentiation|inhibition of VSMC differentiation|down-regulation of VSMC differentiation|negative regulation of VSMC differentiation|downregulation of vascular associated smooth muscle cell differentiation|negative regulation of vascular smooth muscle cell differentiation|down-regulation of vascular smooth muscle cell differentiation|down regulation of vascular associated smooth muscle cell differentiation|inhibition of vascular associated smooth muscle cell differentiation|down regulation of vascular smooth muscle cell differentiation|down-regulation of vascular associated smooth muscle cell differentiation|downregulation of VSMC differentiation|inhibition of vascular smooth muscle cell differentiation http://purl.obolibrary.org/obo/GO_1905064 HP:0001657 biolink:PhenotypicFeature Prolonged QT interval Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). UMLS:C0151878|SNOMEDCT_US:111975006 hp.json Prolong qt interval on ekg|Long QT syndrome|Long Q-T syndrome http://purl.obolibrary.org/obo/HP_0001657 HP:0025606 biolink:PhenotypicFeature Abnormal medial rectus muscle physiology A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. hp.json http://purl.obolibrary.org/obo/HP_0025606 GO:1905065 biolink:BiologicalProcess positive regulation of vascular associated smooth muscle cell differentiation Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell differentiation. hp.json activation of VSMC differentiation|up-regulation of vascular smooth muscle cell differentiation|up regulation of vascular smooth muscle cell differentiation|up regulation of vascular associated smooth muscle cell differentiation|positive regulation of vascular smooth muscle cell differentiation|activation of vascular smooth muscle cell differentiation|upregulation of VSMC differentiation|up-regulation of vascular associated smooth muscle cell differentiation|activation of vascular associated smooth muscle cell differentiation|upregulation of vascular smooth muscle cell differentiation|positive regulation of VSMC differentiation|up regulation of VSMC differentiation|upregulation of vascular associated smooth muscle cell differentiation|up-regulation of VSMC differentiation http://purl.obolibrary.org/obo/GO_1905065 HP:0001658 biolink:PhenotypicFeature Myocardial infarction Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. UMLS:C0027051|SNOMEDCT_US:22298006|MSH:D009203 hp.json MI|Heart attack http://purl.obolibrary.org/obo/HP_0001658 HP:0025607 biolink:PhenotypicFeature Upper eyelid entropion An inward turning (inversion) of the margin of the upper eyelid. hp.json http://purl.obolibrary.org/obo/HP_0025607 HP:0025608 biolink:PhenotypicFeature Cicatricial ectropion An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. hp.json http://purl.obolibrary.org/obo/HP_0025608 HP:0025609 biolink:PhenotypicFeature Anterior blepharitis A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. hp.json http://purl.obolibrary.org/obo/HP_0025609 GO:1905069 biolink:BiologicalProcess allantois development The process whose specific outcome is the progression of an allantois over time, from its formation to the mature structure. hp.json allantoic bud development http://purl.obolibrary.org/obo/GO_1905069 HP:0001651 biolink:PhenotypicFeature Dextrocardia The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. UMLS:C0011813|EPCC:02.01.02|SNOMEDCT_US:27637000|ICD-10:Q24.0|Fyler:110|MSH:D003914|Fyler:0110 hp.json Thoracic situs inversus|Heart tip and four chambers point towards right side of body http://purl.obolibrary.org/obo/HP_0001651 HP:0001650 biolink:PhenotypicFeature Aortic valve stenosis The presence of a stenosis (narrowing) of the aortic valve. SNOMEDCT_US:60573004|UMLS:C0003507|MSH:D001024|Fyler:1411 hp.json Narrowing of aortic valve|Aortic stenosis|Valvular aortic stenosis http://purl.obolibrary.org/obo/HP_0001650 HP:0001655 biolink:PhenotypicFeature Patent foramen ovale Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Fyler:2020|SNOMEDCT_US:204317008|ICD-10:Q21.1|UMLS:C0016522|MSH:D054092 hp.json Persistent foramen ovale http://purl.obolibrary.org/obo/HP_0001655 HP:0025600 biolink:PhenotypicFeature Abnormal inferior rectus muscle physiology A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. hp.json http://purl.obolibrary.org/obo/HP_0025600 HP:0025601 biolink:PhenotypicFeature Inferior rectus muscle weakness Decreased strength of the inferior rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0025601 HP:0025602 biolink:PhenotypicFeature Inferior rectus muscle restriction Mechanical limitation of the range of movement of the inferior rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0025602 HP:0001653 biolink:PhenotypicFeature Mitral regurgitation An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. SNOMEDCT_US:48724000|UMLS:C3551535|Fyler:1151|MSH:D008944|UMLS:C0026266 hp.json Mitral regurgitation, mild|Mitral valve insufficiency|Mitral insufficiency|Mitral incompetence|Mitral valve regurgitation http://purl.obolibrary.org/obo/HP_0001653 HP:0001654 biolink:PhenotypicFeature Abnormal heart valve morphology Any structural abnormality of a cardiac valve. MSH:D006349|UMLS:C0241654|UMLS:C0018824|SNOMEDCT_US:368009 hp.json Valvular abnormality|Abnormality of the heart valves|Valvular heart disease http://purl.obolibrary.org/obo/HP_0001654 HP:0025603 biolink:PhenotypicFeature Abnormal superior rectus muscle physiology A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. hp.json http://purl.obolibrary.org/obo/HP_0025603 GO:0090493 biolink:BiologicalProcess catecholamine uptake The directed movement of catecholamine into a cell. hp.json http://purl.obolibrary.org/obo/GO_0090493 GO:0090494 biolink:BiologicalProcess dopamine uptake The directed movement of dopamine into a cell. hp.json http://purl.obolibrary.org/obo/GO_0090494 GO:0090497 biolink:BiologicalProcess mesenchymal cell migration The orderly movement of a mesenchymal cell from one site to another, often during the development of a multicellular organism. hp.json http://purl.obolibrary.org/obo/GO_0090497 CHEBI:5254 biolink:ChemicalSubstance galactolipid hp.json http://purl.obolibrary.org/obo/CHEBI_5254 HP:0001626 biolink:PhenotypicFeature Abnormality of the cardiovascular system Any abnormality of the cardiovascular system. SNOMEDCT_US:49601007|MSH:D018376|MSH:D002318|UMLS:C0007222|UMLS:C0243050 hp.json Cardiovascular disease|Cardiovascular abnormality|Abnormality of the cardiovascular system http://purl.obolibrary.org/obo/HP_0001626 HP:0001627 biolink:PhenotypicFeature Abnormal heart morphology Any structural anomaly of the heart. UMLS:C0152021|UMLS:C0018798|MSH:D006330|SNOMEDCT_US:13213009 hp.json Cardiac anomalies|Congenital heart defects|Congenital heart defect|Heart defect|Cardiac abnormality|Abnormality of cardiac morphology|Abnormally shaped heart|Abnormality of the heart|Cardiac anomaly http://purl.obolibrary.org/obo/HP_0001627 HP:0001629 biolink:PhenotypicFeature Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. MSH:D006345|SNOMEDCT_US:253549006|Fyler:1300|SNOMEDCT_US:30288003|UMLS:C0018818 hp.json Hole in heart wall separating two lower heart chambers|Ventricular septal defects|VSD|Ventriculoseptal defect http://purl.obolibrary.org/obo/HP_0001629 HP:0001622 biolink:PhenotypicFeature Premature birth The birth of a baby of less than 37 weeks of gestational age. MSH:D047928|UMLS:C0151526|SNOMEDCT_US:367494004|SNOMEDCT_US:49550006|SNOMEDCT_US:282020008|UMLS:C0233315 hp.json Premature delivery of affected infants|Premature delivery|Shortened gestation time|Premature birth|Preterm birth|Preterm delivery http://purl.obolibrary.org/obo/HP_0001622 HP:0001623 biolink:PhenotypicFeature Breech presentation A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. MSH:D001946|UMLS:C0006157|SNOMEDCT_US:6096002|SNOMEDCT_US:249101006 hp.json Feet or buttocks of fetus positioned near opening of uterus|Feet or buttocks of foetus positioned near opening of uterus|Breech presentation at birth http://purl.obolibrary.org/obo/HP_0001623 HP:0001620 biolink:PhenotypicFeature High pitched voice An abnormal increase in the pitch (frequency) of the voice. UMLS:C0241703|SNOMEDCT_US:51406002 hp.json High pitched voice|High-pitched voice http://purl.obolibrary.org/obo/HP_0001620 HP:0001621 biolink:PhenotypicFeature Weak voice Reduced intensity (volume) of speech. SNOMEDCT_US:34527004|SNOMEDCT_US:8614008|MSH:D014832|UMLS:C0241700|UMLS:C0521007 hp.json Hypophonia|Quiet voice|Soft voice|Weak voice http://purl.obolibrary.org/obo/HP_0001621 GO:0016485 biolink:BiologicalProcess protein processing Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. hp.json peptidolysis during protein maturation http://purl.obolibrary.org/obo/GO_0016485 GO:0090461 biolink:BiologicalProcess glutamate homeostasis Any process involved in the maintenance of an internal steady state of glutamate within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0090461 HP:0001637 biolink:PhenotypicFeature Abnormal myocardium morphology A structural anomaly of the muscle layer of the heart wall. UMLS:C4025758 hp.json Abnormality of the myocardium http://purl.obolibrary.org/obo/HP_0001637 HP:0001638 biolink:PhenotypicFeature Cardiomyopathy A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. MSH:D009202|Fyler:1840|UMLS:C0878544|SNOMEDCT_US:57809008|SNOMEDCT_US:85898001 hp.json Disease of the heart muscle http://purl.obolibrary.org/obo/HP_0001638 HP:0001635 biolink:PhenotypicFeature Congestive heart failure The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. SNOMEDCT_US:42343007|MSH:D006333|SNOMEDCT_US:84114007|UMLS:C0018802|UMLS:C0018801 hp.json Chronic heart failure|Heart failure|Cardiac insufficiency|Cardiac failures|Cardiac failure|CHF http://purl.obolibrary.org/obo/HP_0001635 HP:0001636 biolink:PhenotypicFeature Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. SNOMEDCT_US:86299006|UMLS:C0039685|ICD-10:Q21.3|MSH:D013771 hp.json Tetrology of fallot http://purl.obolibrary.org/obo/HP_0001636 HP:0001639 biolink:PhenotypicFeature Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. SNOMEDCT_US:45227007|MSH:D002312|UMLS:C0007194|SNOMEDCT_US:233873004 hp.json HCM|Enlarged and thickened heart muscle|Cardiomyopathy, hypertrophic http://purl.obolibrary.org/obo/HP_0001639 HP:0001633 biolink:PhenotypicFeature Abnormal mitral valve morphology Any structural anomaly of the mitral valve. UMLS:C4025759 hp.json Abnormality of the mitral valve http://purl.obolibrary.org/obo/HP_0001633 HP:0001634 biolink:PhenotypicFeature Mitral valve prolapse One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Fyler:1533|SNOMEDCT_US:8074002|UMLS:C0026267|SNOMEDCT_US:409712001|MSH:D008945 hp.json http://purl.obolibrary.org/obo/HP_0001634 HP:0001631 biolink:PhenotypicFeature Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. SNOMEDCT_US:405752007|UMLS:C0018817|SNOMEDCT_US:253366007|Fyler:2050|ICD-10:Q21.1|MSH:D006344|SNOMEDCT_US:70142008 hp.json Atrial septum defect|ASD|Atria septal defect|Defect in the atrial septum|Hole in heart wall separating two upper heart chambers|An opening in the wall separating the top two chambers of the heart|Atrioseptal defect http://purl.obolibrary.org/obo/HP_0001631 GO:0016491 biolink:MolecularActivity oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. Reactome:R-HSA-9026917|Reactome:R-HSA-8936442|Reactome:R-HSA-1614362|Reactome:R-HSA-8878581|Reactome:R-HSA-9024624|Reactome:R-HSA-9693722|Reactome:R-HSA-9025007|Reactome:R-HSA-9026001|Reactome:R-HSA-209921|Reactome:R-HSA-390438|Reactome:R-HSA-9024630|Reactome:R-HSA-390425|EC:1.-.-.-|Reactome:R-HSA-9027033|Reactome:R-HSA-3095889|Reactome:R-HSA-9020249|Reactome:R-HSA-9020260|Reactome:R-HSA-209960|Reactome:R-HSA-5662660 hp.json oxidoreductase activity, acting on other substrates|redox activity http://purl.obolibrary.org/obo/GO_0016491 goslim_candida|goslim_yeast|goslim_generic|prokaryote_subset|goslim_pir|goslim_drosophila|goslim_metagenomics|goslim_chembl|goslim_mouse CHEBI:7896 biolink:ChemicalSubstance hexadecanoate A long-chain fatty acid anion that is the conjugate base of hexadecanoic acid (palmitic acid); major species at pH 7.3. HMDB:HMDB0000220|Gmelin:344266|CAS:143-20-4|MetaCyc:PALMITATE|Reaxys:3589907|Beilstein:3589907 hp.json hexadecanoate|Hexadecanoic acid, ion(1-)|n-hexadecoate|CH3-[CH2]14-COO(-)|hexadecanoate|n-hexadecanoate|pentadecanecarboxylate|1-pentadecanecarboxylate|(16:0)|palmitate|1-hexyldecanoate http://purl.obolibrary.org/obo/CHEBI_7896 3_STAR UBERON:0018265 biolink:AnatomicalEntity anterior root of zygomatic arch The anterior or rostral end of the zygomatic arch, which includes the temporal process of the zygomatic bone, but also including some of the body of the zygomatic bone. It may also include the zygomatico-temporal suture and the most rostral portion of the zygomatic process of the temporal bone. MFMO:0000109 hp.json http://purl.obolibrary.org/obo/UBERON_0018265 UBERON:0018261 biolink:AnatomicalEntity muscular coat of digestive tract A muscular coat that is part of a digestive tract. hp.json muscular layer of digestive tract|muscularis externa of digestive tract|tunica muscularis of digestive tract|tunica externa of digestive tract http://purl.obolibrary.org/obo/UBERON_0018261 UBERON:0006289 biolink:AnatomicalEntity rib pre-cartilage condensation A rib endochondral element that is composed primarily of a pre-cartilage condensation. VHOG:0000681|EMAPA:17397|EHDAA:6026|EHDAA2:0001717 hp.json http://purl.obolibrary.org/obo/UBERON_0006289 emapa_ehdaa2 UBERON:0006288 biolink:AnatomicalEntity rib cartilage element A rib endochondral element that is composed primarily of cartilage tissue. EHDAA:8347|EHDAA2:0001716|EMAPA:17678|VHOG:0001122 hp.json http://purl.obolibrary.org/obo/UBERON_0006288 emapa_ehdaa2 UBERON:0006287 biolink:AnatomicalEntity radius-ulna pre-cartilage condensation A radius-ulna endochondral element that is composed primarily of a pre-cartilage condensation. VHOG:0000949|EMAPA:17420|EHDAA2:0001587|EHDAA:4178 hp.json http://purl.obolibrary.org/obo/UBERON_0006287 UBERON:0006286 biolink:AnatomicalEntity radius cartilage element A cartilaginous condensation that has the potential to develop into a radius bone. VHOG:0001318|EHDAA2:0001585|EMAPA:18054|EHDAA:7267 hp.json http://purl.obolibrary.org/obo/UBERON_0006286 UBERON:0006285 biolink:AnatomicalEntity pubic pre-cartilage condensation A pubic endochondral element that is composed primarily of a pre-cartilage condensation. VHOG:0000965|EHDAA2:0001574|EMAPA:18349|EHDAA:9572 hp.json http://purl.obolibrary.org/obo/UBERON_0006285 emapa_ehdaa2 UBERON:0006284 biolink:AnatomicalEntity early prosencephalic vesicle Future brain vesicle that gives rise to telencephalic ventricle/lateral ventricles and 3rd ventricle. TAO:0001259|EHDAA:1356|DHBA:10595|VHOG:0000644|EHDAA2:0001571|ZFA:0001259|EMAPA:16521 hp.json forebrain vesicle|preevaginated forebrain vesicle|prosencephalic ventricle|prosencephalic vesicle|forebrain ventricle http://purl.obolibrary.org/obo/UBERON_0006284 UBERON:0006283 biolink:AnatomicalEntity future cardiac ventricle Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. FMA:71006|EMAPA:16350|ZFA:0001719|EHDAA2:0001531|Wikipedia:Embryonic_ventricle|TAO:0002231|NCIT:C34160|SCTID:361524003 hp.json primordial cardiac ventricle|early heart ventricle|future heart ventricle|embryonic heart ventricle|presumptive cardiac ventricle heart tube|primitive ventricle|primordial ventricle|primitive ventricle of heart|embryonic ventricle http://purl.obolibrary.org/obo/UBERON_0006283 UBERON:0018260 biolink:AnatomicalEntity layer of muscle tissue Any organ component layer that consists of muscle tissue. UMLS:C0225358|FMA:45634|NCIT:C75444 hp.json http://purl.obolibrary.org/obo/UBERON_0018260 UBERON:0018256 biolink:AnatomicalEntity lacrimal vein A vein that drains a lacrimal gland. FMA:51779 hp.json http://purl.obolibrary.org/obo/UBERON_0018256 human_reference_atlas UBERON:0018257 biolink:AnatomicalEntity submucosa of digestive tract Any portion of submucosa that lines the digestive tract. hp.json http://purl.obolibrary.org/obo/UBERON_0018257 UBERON:0018254 biolink:AnatomicalEntity skeletal musculature EHDAA2:0001842|MA:0000165|EMAPA:35578 hp.json http://purl.obolibrary.org/obo/UBERON_0018254 grouping_class UBERON:0018255 biolink:AnatomicalEntity jejunal artery A branch of the superior mesenteric artery that supplies the jejunum. FMA:14808 hp.json jejunal branch of superior mesenteric artery http://purl.obolibrary.org/obo/UBERON_0018255 UBERON:0018252 biolink:AnatomicalEntity internal pudendal vein Accompanying vein of internal pudendal artery. FMA:18917 hp.json internal pudic vein|vena pudenda interna http://purl.obolibrary.org/obo/UBERON_0018252 human_reference_atlas UBERON:0018251 biolink:AnatomicalEntity meningeal vein One of the veins draining a meninix. SCTID:84842006|FMA:50839 hp.json http://purl.obolibrary.org/obo/UBERON_0018251 UBERON:0006274 biolink:AnatomicalEntity tetrapod parietal bone primordium EHDAA2:0001404|FMA:312593|EHDAA:9544|EMAPA:18019 hp.json parietal bone primordium http://purl.obolibrary.org/obo/UBERON_0006274 emapa_ehdaa2 UBERON:0006273 biolink:AnatomicalEntity otic pit The pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles. NCIT:C34238|EHDAA2:0001336|EHDAA:929|FMA:302911|EMAPA:16536|VHOG:0001147 hp.json otic cup http://purl.obolibrary.org/obo/UBERON_0006273 emapa_ehdaa2|pheno_slim UBERON:0006271 biolink:AnatomicalEntity orbital fissure Either of two openings transmitting nerves and blood vessels to or from the orbit. EMAPA:18717|EHDAA:10648|EHDAA2:0001328 hp.json http://purl.obolibrary.org/obo/UBERON_0006271 emapa_ehdaa2 UBERON:0006279 biolink:AnatomicalEntity pleuroperitoneal canal Each of the canals that links the peritoneal cavity and the caudal part of a pleural cavity. SCTID:361413002|EHDAA:4128|VHOG:0001505|EMAPA:17707|EMAPA:17704|EHDAA2:0001481 hp.json pleuroperitoneal channel http://purl.obolibrary.org/obo/UBERON_0006279 emapa_ehdaa2 UBERON:0018246 biolink:AnatomicalEntity thyroid vein A vein that drains a thyroid gland. EMAPA:18648 hp.json http://purl.obolibrary.org/obo/UBERON_0018246 UBERON:0018243 biolink:AnatomicalEntity thymic artery A vein that supplies blood to the thymus. FMA:10647 hp.json thymic arteries|thymic branch of internal thoracic artery http://purl.obolibrary.org/obo/UBERON_0018243 human_reference_atlas GO:2000401 biolink:BiologicalProcess regulation of lymphocyte migration Any process that modulates the frequency, rate or extent of lymphocyte migration. hp.json http://purl.obolibrary.org/obo/GO_2000401 GO:2000402 biolink:BiologicalProcess negative regulation of lymphocyte migration Any process that stops, prevents or reduces the frequency, rate or extent of lymphocyte migration. hp.json http://purl.obolibrary.org/obo/GO_2000402 GO:2000403 biolink:BiologicalProcess positive regulation of lymphocyte migration Any process that activates or increases the frequency, rate or extent of lymphocyte migration. hp.json http://purl.obolibrary.org/obo/GO_2000403 GO:2000404 biolink:BiologicalProcess regulation of T cell migration Any process that modulates the frequency, rate or extent of T cell migration. hp.json regulation of T lymphocyte migration|regulation of T-lymphocyte migration|regulation of T-cell migration http://purl.obolibrary.org/obo/GO_2000404 GO:2000405 biolink:BiologicalProcess negative regulation of T cell migration Any process that stops, prevents or reduces the frequency, rate or extent of T cell migration. hp.json negative regulation of T-cell migration|negative regulation of T lymphocyte migration|negative regulation of T-lymphocyte migration http://purl.obolibrary.org/obo/GO_2000405 GO:2000406 biolink:BiologicalProcess positive regulation of T cell migration Any process that activates or increases the frequency, rate or extent of T cell migration. hp.json positive regulation of T-cell migration|positive regulation of T lymphocyte migration|positive regulation of T-lymphocyte migration http://purl.obolibrary.org/obo/GO_2000406 UBERON:0018247 biolink:AnatomicalEntity cervical thymic artery An artery that supplies a cervical thymus. hp.json http://purl.obolibrary.org/obo/UBERON_0018247 UBERON:0006267 biolink:AnatomicalEntity notochordal plate The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. VHOG:0001212|EMAPA:16101|UMLS:C1518429|EHDAA2:0001278|EHDAA:264|NCIT:C34231 hp.json http://purl.obolibrary.org/obo/UBERON_0006267 emapa_ehdaa2 UBERON:0006266 biolink:AnatomicalEntity nasolacrimal groove Groove between maxillary prominence and lateral nasal process. NCIT:C34218|FMA:300055|EHDAA2:0001238|VHOG:0001307|EHDAA:4770|UMLS:C1513875|EMAPA:16679 hp.json s. lacrimalis maxillae|naso-lacrimal groove http://purl.obolibrary.org/obo/UBERON_0006266 emapa_ehdaa2 UBERON:0006264 biolink:AnatomicalEntity mouth-foregut junction An anatomical junctions that overlaps the mouth and foregut. EMAPA:16258|VHOG:0000592|EHDAA:534|RETIRED_EHDAA2:0001205 hp.json http://purl.obolibrary.org/obo/UBERON_0006264 emapa_ehdaa2 UBERON:0006263 biolink:AnatomicalEntity Meckel's cartilage pre-cartilage condensation EMAPA:17358|VHOG:0001121|EHDAA2:0001074 hp.json http://purl.obolibrary.org/obo/UBERON_0006263 emapa_ehdaa2 UBERON:0006262 biolink:AnatomicalEntity malleus pre-cartilage condensation A malleus endochondral element that is composed primarily of a pre-cartilage condensation. VHOG:0000958|EHDAA2:0001055|EMAPA:17826|EHDAA:9026 hp.json http://purl.obolibrary.org/obo/UBERON_0006262 emapa_ehdaa2 UBERON:0006261 biolink:AnatomicalEntity male genital tubercle A differentiated genital tubercle that is part of a male reproductive system. EHDAA:8138|VHOG:0000667|EMAPA:17969|RETIRED_EHDAA2:0001048 hp.json genital tubercle of male|penis anlage http://purl.obolibrary.org/obo/UBERON_0006261 emapa_ehdaa2 UBERON:0006260 biolink:AnatomicalEntity lingual swellings EHDAA2:0000996|EMAPA:17186|VHOG:0000449 hp.json lingual swelling http://purl.obolibrary.org/obo/UBERON_0006260 emapa_ehdaa2 CHEBI:16235 biolink:ChemicalSubstance guanine A 2-aminopurine carrying a 6-oxo substituent. CAS:73-40-5|MetaCyc:GUANINE|Wikipedia:Guanine|CAS:73-40-5|PMID:22770225|Gmelin:431879|CAS:73-40-5|KEGG:C00242|PDBeChem:GUN|Beilstein:147911|Reaxys:147911|PMID:8070089|KNApSAcK:C00001501|HMDB:HMDB0000132|DrugBank:DB02377 hp.json GUANINE|Gua|guanine|2-Amino-6-hydroxypurine|2-amino-6-oxopurine|G|2-amino-1,9-dihydro-6H-purin-6-one|Guanine http://purl.obolibrary.org/obo/CHEBI_16235 3_STAR UBERON:0006268 biolink:AnatomicalEntity notochordal process A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot. EMAPA:16102|EHDAA:224|EHDAA2:0001279|FMA:293135|UMLS:C1518430|NCIT:C34232|VHOG:0001213 hp.json chordamesoderm|presumptive notochord http://purl.obolibrary.org/obo/UBERON_0006268 emapa_ehdaa2 UBERON:0018234 biolink:AnatomicalEntity stroma of pancreas A stroma that is part of a pancreas. FMA:63121 hp.json pancreatic stroma http://purl.obolibrary.org/obo/UBERON_0018234 human_reference_atlas UBERON:0018235 biolink:AnatomicalEntity capsule of pancreas A capsule that divides the parenchyma of the pancreas into lobes and lobules. hp.json pancreatic capsule http://purl.obolibrary.org/obo/UBERON_0018235 UBERON:0018232 biolink:AnatomicalEntity axillary sweat gland A sweat gland that is part of a axilla. hp.json sweat gland of axilla|axillary apocrine sweat gland http://purl.obolibrary.org/obo/UBERON_0018232 UBERON:0018239 biolink:AnatomicalEntity rhombomere boundary A boundary delimiting a rhombomere. hp.json rhombomere junction http://purl.obolibrary.org/obo/UBERON_0018239 UBERON:0006256 biolink:AnatomicalEntity knee joint primordium EHDAA2:0000897|EMAPA:17740|EHDAA:8467 hp.json http://purl.obolibrary.org/obo/UBERON_0006256 emapa_ehdaa2 UBERON:0006255 biolink:AnatomicalEntity ischial pre-cartilage condensation An ischial endochondral element that is composed primarily of a pre-cartilage condensation. EHDAA:7153|EMAPA:18348|EHDAA2:0000891|VHOG:0000962 hp.json http://purl.obolibrary.org/obo/UBERON_0006255 emapa_ehdaa2 UBERON:0006254 biolink:AnatomicalEntity ischial cartilage element An ischial endochondral element that is composed primarily of cartilage tissue. EMAPA:26930|EHDAA:9570|EHDAA2:0000890 hp.json ischial cartilage condensation http://purl.obolibrary.org/obo/UBERON_0006254 emapa_ehdaa2 UBERON:0018299 biolink:AnatomicalEntity mandibular symphyseal tooth Tooth of the lower jaw that is adjacent to the mandibular symphysis. UBERONTEMP:2f99ad4b-d842-4ae9-8886-87ee98811fe5 hp.json symphyseal tooth|lower jaw symphyseal tooth http://purl.obolibrary.org/obo/UBERON_0018299 OBI:0002650 biolink:NamedThing biopsy A specimen collection that obtains a sample of tissue or cell from a living multicellular organism body for diagnostic purposes by means intended to be minimally invasive. hp.json http://purl.obolibrary.org/obo/OBI_0002650 OBI:0002651 biolink:NamedThing image guided biopsy A biopsy which uses an imaging procedure to guide a needle biopsy. hp.json http://purl.obolibrary.org/obo/OBI_0002651 OBI:0002654 biolink:NamedThing needle biopsy A biopsy that uses a hollow needle to extract cells. hp.json http://purl.obolibrary.org/obo/OBI_0002654 OBI:0002655 biolink:NamedThing fine needle aspiration biopsy A biopsy that uses a thin needle to extract cells. hp.json http://purl.obolibrary.org/obo/OBI_0002655 OBI:0002652 biolink:NamedThing computed tomography assisted biopsy A needle biopsy guided by real-time computed tomography (CT) scan images. hp.json http://purl.obolibrary.org/obo/OBI_0002652 OBI:0002653 biolink:NamedThing ultrasound-guided needle biopsy A needle biopsy guided by ultrasound visualization. hp.json http://purl.obolibrary.org/obo/OBI_0002653 OBI:0002656 biolink:NamedThing core needle biopsy A biopsy that uses a hollow tube to collect a core of tissue. hp.json http://purl.obolibrary.org/obo/OBI_0002656 OBI:0002657 biolink:NamedThing surgical biopsy A biopsy involving a surgical incision into an organism to access the biopsy material. hp.json http://purl.obolibrary.org/obo/OBI_0002657 PR:P01350 biolink:Protein gastrin (human) A gastrin that is encoded in the genome of human. UniProtKB:P01350 hp.json hGAST|GAST|GAS http://purl.obolibrary.org/obo/PR_P01350 OBO:uberon/core#conduit_for biolink:NamedThing conduit for x is a conduit for y iff y passes through the lumen of x. hp.json http://purl.obolibrary.org/obo/uberon/core#conduit_for UBERON:0006292 biolink:AnatomicalEntity shoulder joint primordium EMAPA:17712|EHDAA2:0001836|EHDAA:8493 hp.json http://purl.obolibrary.org/obo/UBERON_0006292 emapa_ehdaa2 UBERON:0006291 biolink:AnatomicalEntity scapula pre-cartilage condensation A scapula endochondral element that is composed primarily of a pre-cartilage condensation. VHOG:0000960|EHDAA:6041|EMAPA:18027|EHDAA2:0001778 hp.json http://purl.obolibrary.org/obo/UBERON_0006291 emapa_ehdaa2 UBERON:0006290 biolink:AnatomicalEntity scapula cartilage element A scapula endochondral element that is composed primarily of cartilage tissue. EHDAA:8368|VHOG:0001125|EHDAA2:0001777|EMAPA:18343 hp.json http://purl.obolibrary.org/obo/UBERON_0006290 emapa_ehdaa2 UBERON:0006298 biolink:AnatomicalEntity submandibular gland primordium A primordium that has the potential to develop into a submandibular gland. EHDAA2:0001939|EHDAA:9255|EMAPA:17755 hp.json submaxillary gland primordium http://purl.obolibrary.org/obo/UBERON_0006298 emapa_ehdaa2 UBERON:0006297 biolink:AnatomicalEntity sublingual gland primordium A primordium that has the potential to develop into a sublingual gland. EHDAA:7989|EHDAA2:0001935|EMAPA:17752 hp.json http://purl.obolibrary.org/obo/UBERON_0006297 emapa_ehdaa2 UBERON:0006295 biolink:AnatomicalEntity sternebral bone pre-cartilage condensation VHOG:0000961|EHDAA:9565|EHDAA2:0001912|EMAPA:18345 hp.json http://purl.obolibrary.org/obo/UBERON_0006295 emapa_ehdaa2 UBERON:0006294 biolink:AnatomicalEntity stapes pre-cartilage condensation A stapes endochondral element that is composed primarily of a pre-cartilage condensation. EHDAA:5699|VHOG:0000956|EMAPA:17827|EHDAA2:0001910 hp.json stapedial anlage http://purl.obolibrary.org/obo/UBERON_0006294 emapa_ehdaa2 UBERON:0006293 biolink:AnatomicalEntity spleen primordium A dense syncitial-like mesenchymal thickening in the dorsal mesogastrium[ISBN]. the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen[MP]. EHDAA:3003|XAO:0000326|EHDAA2:0001904|EMAPA:18535 hp.json spleen mesenchyme|splenic primordium|left spleen primordium|splenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0006293 pheno_slim CHEBI:16180 biolink:ChemicalSubstance N-acylglycine An N-acyl-amino acid in which amino acid specified is glycine. MetaCyc:CPD-426|KEGG:C02055 hp.json N-Acylglycine http://purl.obolibrary.org/obo/CHEBI_16180 3_STAR UBERON:0018302 biolink:AnatomicalEntity upper molar 1 First molar (counting anteroposteriorly) in the upper jaw. UBERONTEMP:12acbe6c-9036-48e3-b1a0-1f2fdaa0241d hp.json http://purl.obolibrary.org/obo/UBERON_0018302 UBERON:0018303 biolink:AnatomicalEntity adrenal tissue Tissue that is part of some adrenal gland. UBERONTEMP:a7bf197b-0db2-467e-824e-be45b39e2672|NCIT:C32051 hp.json adrenal gland tissue http://purl.obolibrary.org/obo/UBERON_0018303 UBERON:0006322 biolink:AnatomicalEntity inferior rectus extraocular muscle A muscle in the orbit that depresses, adducts, and helps extort (rotate laterally) the eye. The inferior rectus muscle is the only muscle that is capable of depressing the pupil when it is in a fully abducted position. UMLS:C0582819|AAO:0010101|NCIT:C32790|ZFA:0000457|TAO:0000457|FMA:49036|MA:0001279|VHOG:0001130 hp.json m. rectus inferior|inferior rectus muscle|ventral rectus|inferior rectus|ventral recti|musculus rectus inferior|ventral rectus extraocular muscle|musculus rectus inferior bulbi http://purl.obolibrary.org/obo/UBERON_0006322 vertebrate_core UBERON:0006321 biolink:AnatomicalEntity superior oblique extraocular muscle The superior oblique muscle, or obliquus oculi superior, is a fusiform muscle in the upper, medial side of the orbit whose primary action is downward, lateral rotation of the eye. One of the extraocular muscles, the superior oblique is the only muscle innervated by the trochlear nerve (the fourth cranial nerve). MA:0001277|ZFA:0000738|TAO:0000738|FMA:49039|AAO:0010119|VHOG:0001131|UMLS:C0582816|NCIT:C33688 hp.json obliquus oculi superior|M. obliquus superior|musculus obliquus superior bulbi|dorsal oblique extraocular muscles|superior oblique|dorsal oblique extraocular muscle|obliquus superior|superior oblique muscle|musculus obliquus superior http://purl.obolibrary.org/obo/UBERON_0006321 vertebrate_core UBERON:0006320 biolink:AnatomicalEntity inferior oblique extraocular muscle Thin, narrow muscle placed near the anterior margin of the floor of the orbit. TAO:0000861|UMLS:C0582817|MA:0001276|NCIT:C32783|FMA:49040|VHOG:0001132|ZFA:0000861|AAO:0010117 hp.json m. obliquus inferior|musculus obliquus inferior bulbi|musculus obliquus inferior bulbi|inferior oblique|obliquus inferior|ventral oblique extraocular muscles|inferior oblique muscle|obliquus oculi inferior|ventral oblique extraocular muscle|musculus obliquus inferior http://purl.obolibrary.org/obo/UBERON_0006320 vertebrate_core UBERON:0008987 biolink:AnatomicalEntity renal parenchyma The functional tissue of the kidney, consisting of the nephrons. BTO:0003604|FMA:15574 hp.json parenchyma of kidney|kidney parenchyma http://purl.obolibrary.org/obo/UBERON_0008987 UBERON:0008989 biolink:AnatomicalEntity submucosal esophageal gland One of the racemose glands in the walls of the esophagus that in humans are small and serve principally to lubricate the food but in some birds secrete a milky fluid on which the young are fed. Wikipedia:Esophageal_glands|UMLS:C0227178|BTO:0003634|NCIT:C32536|SCTID:322749003|FMA:9404 hp.json submocosal esophageal gland|glandulae oesophageae|glandulae oesophageae|esophageal gland|mucous gland of submucosa of esophagus http://purl.obolibrary.org/obo/UBERON_0008989 UBERON:0006328 biolink:AnatomicalEntity laryngeal intrinsic muscle MA:0001770|EMAPA:37630|FMA:55226 hp.json intrinsic laryneal muscles|intrinsic laryngeal muscle|intrinsic muscle of larynx http://purl.obolibrary.org/obo/UBERON_0006328 UBERON:0008982 biolink:AnatomicalEntity fascia A dense regular connective tissue that that connects muscles together[WP, modified]. MESH:D005205|BTO:0002930|EV:0100150|UMLS:C0015641|NCIT:C13108|FMA:30318 hp.json fascia cluster http://purl.obolibrary.org/obo/UBERON_0008982 pheno_slim UBERON:0006325 biolink:AnatomicalEntity laryngeal intrinsic ligament FMA:72058|MA:0001757|EMAPA:37628 hp.json intrinsic ligament of larynx http://purl.obolibrary.org/obo/UBERON_0006325 UBERON:0008974 biolink:AnatomicalEntity apocrine gland Any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk. EMAPA:35141|MA:0003040|MESH:D001050|BTO:0001162 hp.json true apocrine gland http://purl.obolibrary.org/obo/UBERON_0008974 organ_slim|pheno_slim|human_reference_atlas UBERON:0006311 biolink:AnatomicalEntity chamber of eyeball A segment of the eyeball that is filled with refractive media. NCIT:C32301|FMA:58071|UMLS:C0459556|SCTID:280540004|MA:0002459|BTO:0002085|EMAPA:37529 hp.json chamber of eye|eyeball chamber|eye chamber http://purl.obolibrary.org/obo/UBERON_0006311 GO:2000471 biolink:BiologicalProcess regulation of hematopoietic stem cell migration Any process that modulates the frequency, rate or extent of hematopoietic stem cell migration. hp.json regulation of hemopoietic stem cell migration http://purl.obolibrary.org/obo/GO_2000471 GO:2000472 biolink:BiologicalProcess negative regulation of hematopoietic stem cell migration Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic stem cell migration. hp.json negative regulation of hemopoietic stem cell migration http://purl.obolibrary.org/obo/GO_2000472 GO:2000473 biolink:BiologicalProcess positive regulation of hematopoietic stem cell migration Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell migration. hp.json positive regulation of hemopoietic stem cell migration http://purl.obolibrary.org/obo/GO_2000473 CHEBI:43799 biolink:ChemicalSubstance butan-1-amine A primary aliphatic amine that is butane substituted by an amino group at position 1. CAS:109-73-9|PMID:23470444|Wikipedia:N-Butylamine|MetaCyc:BUTYLAMINE|PDBeChem:LYT|PMID:23734590|CAS:109-73-9|Beilstein:605269|Reaxys:605269|DrugBank:DB03659|Gmelin:1784|PMID:16387436 hp.json mono-n-butylamine|butanamine|1-aminobutane|monobutylamine|n-Butylamin|butan-1-amine|1-butanamine|butylamine|1-butylamine|n-butylamine|BUTYLAMINE|1-Aminobutan|n-C4H9NH2 http://purl.obolibrary.org/obo/CHEBI_43799 3_STAR OIO:hasRelatedSynonym biolink:NamedThing has_related_synonym hp.json http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym UBERON:0006314 biolink:AnatomicalEntity bodily fluid Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. GAID:266|BIRNLEX:20|FMA:280556|galen:BodyFluid|EMAPA:37441|MESH:D001826|Wikipedia:Body_fluid hp.json fluid|body fluid http://purl.obolibrary.org/obo/UBERON_0006314 pheno_slim UBERON:0006312 biolink:AnatomicalEntity ocular refractive media Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. MA:0001911 hp.json http://purl.obolibrary.org/obo/UBERON_0006312 CHEBI:77119 biolink:ChemicalSubstance EC 1.1.1.189 (prostaglandin-E2 9-reductase) inhibitor An EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that interferes with the action of prostaglandin-E2 9-reductase (EC 1.1.1.189). Wikipedia:Prostaglandin-E2_9-reductase hp.json PGE2-9-ketoreductase inhibitors|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 9-oxidoreductase inhibitor|prostaglandin E 9-ketoreductase inhibitors|prostaglandin E2-9-oxoreductase inhibitor|PGE2-9-OR inhibitor|PGE2-9-OR inhibitors|prostaglandin E2-9-oxoreductase inhibitors|prostaglandin E 9-ketoreductase inhibitor|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 9-oxidoreductase inhibitors|PGE2-9-ketoreductase inhibitor|9-keto-prostaglandin E2 reductase inhibitor|reductase, 15-hydroxy-9-oxoprostaglandin inhibitors|EC 1.1.1.189 inhibitor|PGE-9-ketoreductase inhibitors|9-ketoprostaglandin reductase inhibitor|prostaglandin 9-ketoreductase inhibitor|PGE2 9-oxoreductase inhibitor|prostaglandin-E2 9-reductase (EC 1.1.1.189) inhibitor|prostaglandin-E2 9-reductase (EC 1.1.1.189) inhibitors|EC 1.1.1.189 (prostaglandin-E2 9-reductase) inhibitors|PGE2 9-oxoreductase inhibitors|prostaglandin 9-ketoreductase inhibitors|9-ketoprostaglandin reductase inhibitors|PGE-9-ketoreductase inhibitor|EC 1.1.1.189 inhibitors|reductase, 15-hydroxy-9-oxoprostaglandin inhibitor|9-keto-prostaglandin E2 reductase inhibitors http://purl.obolibrary.org/obo/CHEBI_77119 3_STAR HP:0025596 biolink:PhenotypicFeature Abnormal inferior oblique muscle physiology A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve. hp.json http://purl.obolibrary.org/obo/HP_0025596 HP:0025597 biolink:PhenotypicFeature Inferior oblique muscle restriction Mechanical limitation of the range of movement of the inferior oblique muscle. hp.json http://purl.obolibrary.org/obo/HP_0025597 HP:0025598 biolink:PhenotypicFeature Inferior oblique muscle weakness Decreased strength of the inferior oblique muscle. hp.json Inferior oblique palsy http://purl.obolibrary.org/obo/HP_0025598 HP:0025599 biolink:PhenotypicFeature Inferior oblique muscle overaction A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. hp.json http://purl.obolibrary.org/obo/HP_0025599 UBERON:0008969 biolink:AnatomicalEntity dental follicle A sac containing the developing tooth and its odontogenic organ. The dental follicle (DF) differentiates into the periodontal ligament. In addition, it may be the precursor of other cells of the periodontium, including osteoblasts, cementoblasts and fibroblasts. They develop into the alveolar bone, the cementum with Sharpey's fibers and the periodontal ligament fibers respectively. EMAPA:35275|NCIT:C34138|BTO:0000337|MA:0003121 hp.json dental sac|tooth follicle http://purl.obolibrary.org/obo/UBERON_0008969 CHEBI:16199 biolink:ChemicalSubstance urea A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O). Beilstein:635724|UM-BBD_compID:c0165|CAS:57-13-6|HMDB:HMDB0000294|Reaxys:635724|PMID:18037357|PDBeChem:URE|CAS:57-13-6|KNApSAcK:C00007314|CAS:57-13-6|PMID:22770225|DrugBank:DB03904|KEGG:D00023|Wikipedia:Urea|KEGG:C00086|Drug_Central:4264|MetaCyc:UREA|YMDB:YMDB00003|Gmelin:1378|PPDB:1728|ECMDB:ECMDB04172 hp.json carbonyldiamide|UREA|Harnstoff|carbamide|urea|ur|uree|Karbamid|urea|E927b|Carbamide|Urea|H2NC(O)NH2|1728 http://purl.obolibrary.org/obo/CHEBI_16199 3_STAR HP:0025590 biolink:PhenotypicFeature Abnormal extraocular muscle physiology A functional anomaly of the muscles of the eye. hp.json http://purl.obolibrary.org/obo/HP_0025590 UBERON:0006306 biolink:AnatomicalEntity ulna cartilage element A cartilaginous condensation that has the potential to develop into a ulna. VHOG:0001155|EMAPA:18055|EHDAA:7269|EHDAA2:0002098 hp.json http://purl.obolibrary.org/obo/UBERON_0006306 HP:0025591 biolink:PhenotypicFeature Abnormal superior oblique muscle physiology A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve. hp.json http://purl.obolibrary.org/obo/HP_0025591 HP:0025592 biolink:PhenotypicFeature Superior oblique muscle weakness Decreased strength of the superior oblique muscle. hp.json Superior oblique palsy http://purl.obolibrary.org/obo/HP_0025592 UBERON:0006304 biolink:AnatomicalEntity future trigeminal ganglion EMAPA:16663|RETIRED_EHDAA2:0002089|EHDAA:924 hp.json trigeminal V preganglion|trigeminal preganglion http://purl.obolibrary.org/obo/UBERON_0006304 emapa_ehdaa2 HP:0025593 biolink:PhenotypicFeature Superior oblique muscle restriction Mechanical limitation of the range of movement of the superior oblique muscle. hp.json http://purl.obolibrary.org/obo/HP_0025593 HP:0025594 biolink:PhenotypicFeature Superior oblique muscle overaction An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye. hp.json http://purl.obolibrary.org/obo/HP_0025594 UBERON:0008962 biolink:AnatomicalEntity forelimb bone A bone that is part of a forelimb region. Examples: humerus, any of the phalanges. Counter-example: scapula (a bone of the pectoral girdle). Note that we consider the forelimb to end at the shoulder. UMLS:C0003793|GAID:178|NCIT:C12983|MESH:D001133 hp.json free forelimb bone|wing bone|wing bone http://purl.obolibrary.org/obo/UBERON_0008962 HP:0025595 biolink:PhenotypicFeature Superior oblique muscle underaction Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. hp.json Under-depression in adduction http://purl.obolibrary.org/obo/HP_0025595 CHEBI:28159 biolink:ChemicalSubstance D-asparagine An optically active form of asparagine having D-configuration. KEGG:C01905|DrugBank:DB03943|Reaxys:1723526|Beilstein:1723526|Gmelin:101784|HMDB:HMDB0033780|PMID:767332|YMDB:YMDB00849|PDBeChem:DSG|Patent:CN101333175|CAS:2058-58-4|CAS:2058-58-4|MetaCyc:CPD-3633 hp.json D-2-aminosuccinamic acid|D-asparagine|D-Asparagin|D-Asparagine|(2R)-2-amino-3-carbamoylpropanoic acid|D-aspartic acid beta-amide|DSG|(R)-2-amino-3-carbamoylpropanoic acid|(2R)-2,4-diamino-4-oxobutanoic acid http://purl.obolibrary.org/obo/CHEBI_28159 3_STAR HP:0025585 biolink:PhenotypicFeature Hyperphoria Tendency for the visual axis of one eye to be higher than that of the other. hp.json http://purl.obolibrary.org/obo/HP_0025585 HP:0025586 biolink:PhenotypicFeature Hypertropia A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. hp.json http://purl.obolibrary.org/obo/HP_0025586 HP:0025587 biolink:PhenotypicFeature Hyperdeviation A type of strabismus in which the visual axis of one eye is higher than that of the other. hp.json http://purl.obolibrary.org/obo/HP_0025587 GO:2000495 biolink:BiologicalProcess regulation of cell proliferation involved in compound eye morphogenesis Any process that modulates the frequency, rate or extent of cell proliferation involved in compound eye morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_2000495 HP:0025588 biolink:PhenotypicFeature Hypodeviation A type of strabismus in which the visual axis of one eye is lower than that of the other. hp.json http://purl.obolibrary.org/obo/HP_0025588 GO:2000496 biolink:BiologicalProcess negative regulation of cell proliferation involved in compound eye morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of cell proliferation involved in compound eye morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_2000496 HP:0025589 biolink:PhenotypicFeature Cyclodeviation Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes. hp.json http://purl.obolibrary.org/obo/HP_0025589 GO:2000497 biolink:BiologicalProcess positive regulation of cell proliferation involved in compound eye morphogenesis Any process that activates or increases the frequency, rate or extent of cell proliferation involved in compound eye morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_2000497 CHEBI:16189 biolink:ChemicalSubstance sulfate A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid. PMID:16742508|PMID:17420092|PMID:16656509|PMID:16742518|Reaxys:3648446|Beilstein:3648446|PMID:15093386|CAS:14808-79-8|MetaCyc:SULFATE|PMID:14597181|PMID:16534979|Gmelin:2120|Wikipedia:Sulfate|PMID:12668033|PMID:11200094|PMID:19047345|PMID:17120760|PMID:16345535|PDBeChem:SO4|PMID:12166931|KEGG:C00059|PMID:30398859|PMID:18398178|CAS:14808-79-8|PMID:19244483|PMID:16348007|PMID:19812358|PMID:16186560|PMID:18846414|KEGG:D05963|PMID:15984785|PMID:19544990|HMDB:HMDB0001448|PMID:17439666|PMID:11798107|PMID:18815700|PMID:11452993|PMID:11581495|PMID:16347366|PMID:16483812|PMID:17709180|PMID:19628332 hp.json SULFATE ION|Sulfate|tetraoxosulfate(VI)|sulphate|Sulfate dianion|Sulfate(2-)|SO4(2-)|Sulfuric acid ion(2-)|Sulfate anion(2-)|sulfate|tetraoxosulfate(2-)|sulphate ion|[SO4](2-)|sulfate|tetraoxidosulfate(2-) http://purl.obolibrary.org/obo/CHEBI_16189 3_STAR HP:0025580 biolink:PhenotypicFeature Abnormal right atrium morphology Any structural abnormality of the right atrium. Fyler:1770 hp.json http://purl.obolibrary.org/obo/HP_0025580 HP:0025581 biolink:PhenotypicFeature Foveal hemorrhage Bleeding occurring within the fovea. hp.json Foveal haemorrhage http://purl.obolibrary.org/obo/HP_0025581 HP:0025582 biolink:PhenotypicFeature Submacular hemorrhage Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. hp.json Sub-macular haemorrhage|Submacular haemorrhage|Sub-macular hemorrhage http://purl.obolibrary.org/obo/HP_0025582 HP:0025583 biolink:PhenotypicFeature Tapetal-like fundal reflex Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals. hp.json http://purl.obolibrary.org/obo/HP_0025583 HP:0025584 biolink:PhenotypicFeature Hypotropia A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. hp.json http://purl.obolibrary.org/obo/HP_0025584 CHEBI:16137 biolink:ChemicalSubstance chondroitin D-glucuronate A mucopolysaccharide composed of repeating beta-D-glucopyranuronosyl-(1->3)-beta-D-N-acetylgalactosaminyl units. KEGG:G11334|KEGG:C00401 hp.json Chondroitin|Chondroitin-D-glucuronate http://purl.obolibrary.org/obo/CHEBI_16137 3_STAR CHEBI:16135 biolink:ChemicalSubstance isobutyric acid A branched fatty acid comprising propanoic acid carrying a methyl branch at C-2. LIPID_MAPS_instance:LMFA01020071|CAS:79-31-2|Beilstein:635770|PMID:17877388|Reaxys:635770|MetaCyc:ISOBUTYRATE|Wikipedia:Isobutyric_acid|KNApSAcK:C00029462|HMDB:HMDB0001873|CAS:79-31-2|CAS:79-31-2|PMID:17580301|PMID:10757489|Gmelin:49630|DrugBank:DB02531|UM-BBD_compID:c0383|BPDB:3128|PDBeChem:ALQ|KEGG:C02632|PPDB:3128 hp.json Isobutyric acid|alpha-methylpropanoic acid|2,2-dimethylacetic acid|ISOBUTYRIC ACID|Isobuttersaeure|2-Methylpropanoic acid|isobutanoic acid|Dimethylacetic acid|Isobutyrate|alpha-methylpropionic acid|2-Methylpropanoate|2-METHYL-PROPIONIC ACID|iso-C3H7COOH|Isobutanoate|iso-butyric acid|alpha-isobutyric acid|2-methylpropanoic acid|2-Methylpropionsaeure|isopropylformic acid http://purl.obolibrary.org/obo/CHEBI_16135 3_STAR CHEBI:16134 biolink:ChemicalSubstance ammonia An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. PMID:22240068|PMID:11540049|PMID:16349403|KNApSAcK:C00007267|PMID:17025297|PMID:15092448|PMID:17737668|PMID:11783653|PMID:17439666|PMID:22130175|PMID:11139349|PMID:22560242|PMID:22002069|PMID:11746427|PMID:22290316|Gmelin:79|KEGG:D02916|MolBase:930|PMID:14663195|MetaCyc:AMMONIA|PMID:15969015|PMID:13753780|CAS:7664-41-7|Beilstein:3587154|Wikipedia:Ammonia|Reaxys:3587154|Drug_Central:4625|PMID:16664306|PMID:16008360|PMID:18670398|PMID:16842901|PMID:22342082|PDBeChem:NH3|PMID:22100291|HMDB:HMDB0000051|PMID:16050680|PMID:15094021|CAS:7664-41-7|PMID:22385337|PMID:22443779|CAS:7664-41-7|PMID:15554424|KEGG:C00014|PMID:22150211|PMID:22088435|PMID:16348008|PMID:110589|PMID:17569513|PMID:16614889|PMID:22081570 hp.json ammonia|NH3|NH3|Ammoniak|spirit of hartshorn|Ammonia|R-717|azane|NH3|AMMONIA|amoniaco|[NH3]|ammoniac http://purl.obolibrary.org/obo/CHEBI_16134 3_STAR UBERON:0006355 biolink:AnatomicalEntity superior vesical vein EMAPA:18646|MA:0002227 hp.json http://purl.obolibrary.org/obo/UBERON_0006355 human_reference_atlas PR:000005794 biolink:Protein ceruloplasmin A protein that is a translation product of the human CP gene or a 1:1 ortholog thereof. hp.json ferroxidase|CP http://purl.obolibrary.org/obo/PR_000005794 UBERON:0006356 biolink:AnatomicalEntity epigastric vein A vein that drains the anterior abdominal wall. UMLS:C1707930|EMAPA:18759|MA:0002114|NCIT:C53045 hp.json http://purl.obolibrary.org/obo/UBERON_0006356 UBERON:0018321 biolink:AnatomicalEntity foramen for glossopharyngeal nerve Foramen that allows the passge of the glossopharyngeal nerve (cranial nerve IX). UBERONTEMP:9ca0bda7-9111-4f59-bc72-5d47bc3d7d61 hp.json http://purl.obolibrary.org/obo/UBERON_0018321 PR:P01308 biolink:Protein insulin gene translation product (human) An insulin gene translation product that is encoded in the genome of human. UniProtKB:P01308 hp.json hINS http://purl.obolibrary.org/obo/PR_P01308 UBERON:0018326 biolink:AnatomicalEntity ilioischiadic foramen Situated just caudal to the acetabulum, the foramen is bound dorsally by the illium and ventrally by the ischium. The foramen transmitts the ischiadic nerves and vessels (Baumel et al. 1993). UBERONTEMP:63e09c69-ac98-49ba-b232-2da5c7b19019 hp.json http://purl.obolibrary.org/obo/UBERON_0018326 UBERON:0006340 biolink:AnatomicalEntity fourth ventricle choroid plexus stroma A choroid plexus stroma that is part of a fourth ventricle. MA:0000985 hp.json http://purl.obolibrary.org/obo/UBERON_0006340 UBERON:0006349 biolink:AnatomicalEntity epigastric artery An external iliac artery branch that supplies blood to the anterior abdominal wall. EMAPA:18750|MA:0001948|UMLS:C0282640|NCIT:C52860|MESH:D019074 hp.json http://purl.obolibrary.org/obo/UBERON_0006349 UBERON:0006347 biolink:AnatomicalEntity communicating artery An artery that connects two larger arteries. MA:0001938|UMLS:C1707451|NCIT:C52851|EMAPA:18598 hp.json http://purl.obolibrary.org/obo/UBERON_0006347 CHEBI:28115 biolink:ChemicalSubstance methylcobalamin PDBeChem:COB|Gmelin:124528|KEGG:D03246|DrugBank:DB03614|KEGG:C06453|CAS:13422-55-4|CAS:13422-55-4|COMe:MOL000085 hp.json mecobalamin|CO-METHYLCOBALAMIN|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-methylcobamide|methylcobalamin|Methylcobalamin|methylcob(III)alamin|MeCbl http://purl.obolibrary.org/obo/CHEBI_28115 3_STAR UBERON:0006333 biolink:AnatomicalEntity snout ZFA:0005496|MA:0001910|TAO:0001712|EMAPA:32806 hp.json muzzle http://purl.obolibrary.org/obo/UBERON_0006333 vertebrate_core UBERON:0008998 biolink:AnatomicalEntity vasculature of brain System pertaining to blood vessels in the brain. ZFA:0000099|TAO:0000099|FMA:242007|BTO:0003840|FMA:61935|SCTID:362029003|EFO:0003491|EMAPA:35186 hp.json brain vasculature|intracerebral vasculature|cerebrovascular system http://purl.obolibrary.org/obo/UBERON_0008998 efo_slim UBERON:0006331 biolink:AnatomicalEntity brainstem nucleus A nucleus of brain that is part of a brainstem. MA:0000821|EMAPA:32790 hp.json brain stem nucleus http://purl.obolibrary.org/obo/UBERON_0006331 UBERON:0006339 biolink:AnatomicalEntity third ventricle choroid plexus stroma A choroid plexus stroma that is part of a third ventricle. MA:0000881|EMAPA:37056 hp.json http://purl.obolibrary.org/obo/UBERON_0006339 UBERON:0006338 biolink:AnatomicalEntity lateral ventricle choroid plexus stroma A choroid plexus stroma that is part of a lateral ventricle. MA:0000963 hp.json http://purl.obolibrary.org/obo/UBERON_0006338 UBERON:0008995 biolink:AnatomicalEntity nucleus of cerebellar nuclear complex Four accumulations of gray substance embedded in the white substance of the cerebellum, comprising the nucleus dentatus, nucleus emboliformis, nucleus globosus, and nucleus fastigii. BTO:0003835|FMA:321695|MA:0000203|EMAPA:35272 hp.json cerebellar nucleus|deep cerebellar nucleus http://purl.obolibrary.org/obo/UBERON_0008995 pheno_slim HP:0025538 biolink:PhenotypicFeature Palmar edema An abnormal accumulation of fluid beneath the skin on the palm of the hand. hp.json Palmar oedema http://purl.obolibrary.org/obo/HP_0025538 HP:0025539 biolink:PhenotypicFeature Abnormal B cell subset distribution hp.json http://purl.obolibrary.org/obo/HP_0025539 HP:0001563 biolink:PhenotypicFeature Fetal polyuria Abnormally increased production of urine by the fetus resulting in polyhydramnios. UMLS:C1865279 hp.json Foetal polyuria http://purl.obolibrary.org/obo/HP_0001563 HP:0025530 biolink:PhenotypicFeature Xanthomas of the palmar creases The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. hp.json Xanthoma striatum palmare|Xanthoma palmare striatum http://purl.obolibrary.org/obo/HP_0025530 HP:0025531 biolink:PhenotypicFeature Harlequin phenomenon The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. hp.json http://purl.obolibrary.org/obo/HP_0025531 HP:0001561 biolink:PhenotypicFeature Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy. MSH:D006831|SNOMEDCT_US:86203003|UMLS:C0020224 hp.json Increased amniotic fluid index|Hydramnios|High levels of amniotic fluid http://purl.obolibrary.org/obo/HP_0001561 HP:0025532 biolink:PhenotypicFeature Positive pathergy test With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result. hp.json http://purl.obolibrary.org/obo/HP_0025532 HP:0025533 biolink:PhenotypicFeature Peau d'orange hp.json http://purl.obolibrary.org/obo/HP_0025533 HP:0001562 biolink:PhenotypicFeature Oligohydramnios Diminished amniotic fluid volume in pregnancy. MSH:D016104|SNOMEDCT_US:59566000|UMLS:C3550658|UMLS:C0079924 hp.json Maternal oligohydramnios|Decreased amniotic fluid index|Low levels of amniotic fluid http://purl.obolibrary.org/obo/HP_0001562 HP:0025534 biolink:PhenotypicFeature Ocular melanocytosis A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared. hp.json Melanosis oculi|Ocular melanosis http://purl.obolibrary.org/obo/HP_0025534 HP:0025535 biolink:PhenotypicFeature Shawl sign Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back. hp.json http://purl.obolibrary.org/obo/HP_0025535 HP:0025536 biolink:PhenotypicFeature V-sign Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest. hp.json http://purl.obolibrary.org/obo/HP_0025536 GO:0016469 biolink:CellularComponent proton-transporting two-sector ATPase complex A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible. hp.json hydrogen-transporting two-sector ATPase complex|vacuolar hydrogen-transporting ATPase http://purl.obolibrary.org/obo/GO_0016469 goslim_pir|goslim_metagenomics HP:0001566 biolink:PhenotypicFeature Widely-spaced maxillary central incisors Increased distance between the maxillary central permanent incisor tooth. UMLS:C1835762|UMLS:C4280252|UMLS:C1845110 hp.json Widely spaced upper incisors|Wide upper central incisors|Diastema between maxillary central incisors|Gap between upper front teeth|Diastema between upper front teeth|Wide gap between upper central incisors|Diastasis of the central incisors|Separated superior central incisors|Diastema between upper incisors|Central incisor gap http://purl.obolibrary.org/obo/HP_0001566 HP:0025537 biolink:PhenotypicFeature Plantar edema An abnormal accumulation of fluid beneath the skin on sole of the foot. hp.json Plantar oedema http://purl.obolibrary.org/obo/HP_0025537 HP:0001560 biolink:PhenotypicFeature Abnormality of the amniotic fluid Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. UMLS:C0266781|SNOMEDCT_US:42170009 hp.json Abnormal amniotic fluid http://purl.obolibrary.org/obo/HP_0001560 HP:0025527 biolink:PhenotypicFeature Serpiginous cutaneous lesion A skin lesion with a snake- or serpent-like distribution. hp.json Serpiginous eruption http://purl.obolibrary.org/obo/HP_0025527 GO:0004494 biolink:MolecularActivity methylmalonyl-CoA mutase activity Catalysis of the reaction: (R)-methylmalonyl-CoA = succinyl-CoA. RHEA:22888|MetaCyc:METHYLMALONYL-COA-MUT-RXN|Reactome:R-HSA-71010|UM-BBD_reactionID:r0922|EC:5.4.99.2|Reactome:R-HSA-3322971|KEGG_REACTION:R00833 hp.json (R)-methylmalonyl-CoA CoA-carbonylmutase activity|(R)-2-methyl-3-oxopropanoyl-CoA CoA-carbonylmutase activity|methylmalonyl-CoA CoA-carbonyl mutase activity|(S)-methylmalonyl-CoA mutase activity|methylmalonyl coenzyme A mutase activity|methylmalonyl coenzyme A carbonylmutase activity http://purl.obolibrary.org/obo/GO_0004494 HP:0025528 biolink:PhenotypicFeature Annular cutaneous lesion A lesion of the skin with a ring-like distribution. hp.json http://purl.obolibrary.org/obo/HP_0025528 HP:0025529 biolink:PhenotypicFeature Hyperpigmented nodule A nodule of the skin that exhibits an increased amount of pigmentation. hp.json http://purl.obolibrary.org/obo/HP_0025529 HP:0001574 biolink:PhenotypicFeature Abnormality of the integument An abnormality of the integument, which consists of the skin and the superficial fascia. UMLS:C4025761 hp.json http://purl.obolibrary.org/obo/HP_0001574 HP:0025520 biolink:PhenotypicFeature Calcinosis cutis Deposition of calcium in the skin. hp.json Cutaneous calcification http://purl.obolibrary.org/obo/HP_0025520 HP:0001575 biolink:PhenotypicFeature obsolete Mood changes hp.json http://purl.obolibrary.org/obo/HP_0001575 HP:0001572 biolink:PhenotypicFeature Macrodontia Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. UMLS:C0266036|UMLS:C4280592|UMLS:C4280591|SNOMEDCT_US:71485000|UMLS:C4280590 hp.json Hyperplasia of tooth|Tooth mass excess|Large tooth|Increased size of tooth|Hypertrophy of tooth|Megalodontia|Increased width of tooth http://purl.obolibrary.org/obo/HP_0001572 hposlim_core HP:0025521 biolink:PhenotypicFeature Increased body fat percentage The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males. hp.json http://purl.obolibrary.org/obo/HP_0025521 HP:0025522 biolink:PhenotypicFeature Elongated chordae tendinae of the mitral valve Abnormal increased in length of the chordae tendinae of the mitral valve. hp.json http://purl.obolibrary.org/obo/HP_0025522 GO:0016477 biolink:BiologicalProcess cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. Wikipedia:Cell_migration hp.json http://purl.obolibrary.org/obo/GO_0016477 HP:0025523 biolink:PhenotypicFeature Abnormal morphology of the chordae tendinae of the mitral valve A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. hp.json http://purl.obolibrary.org/obo/HP_0025523 HP:0025524 biolink:PhenotypicFeature Palmoplantar scaling skin Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. hp.json Palmoplantar psoriasis http://purl.obolibrary.org/obo/HP_0025524 HP:0001579 biolink:PhenotypicFeature Primary hypercortisolism Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. UMLS:C4025760|UMLS:C1968852 hp.json ACTH-independent hypercortisolemia http://purl.obolibrary.org/obo/HP_0001579 HP:0025525 biolink:PhenotypicFeature Scaling skin on fingertip Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips. hp.json http://purl.obolibrary.org/obo/HP_0025525 HP:0025526 biolink:PhenotypicFeature Psoriasiform lesion A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus. hp.json Psoriatic-like lesion|Erythematosquamous plaque|Erythemato-squamous plaque http://purl.obolibrary.org/obo/HP_0025526 PR:P50283 biolink:Protein T-cell antigen CD7 (mouse) A CD7 molecule that is encoded in the genome of mouse. UniProtKB:P50283 hp.json mCD7|CD7 (mouse)|Cd7 http://purl.obolibrary.org/obo/PR_P50283 HP:0001571 biolink:PhenotypicFeature Multiple impacted teeth The presence of multiple impacted teeth. UMLS:C1839965|UMLS:C4280593 hp.json Multiple retained teeth|Multiple impacted teeth|Impacted teeth|Multiple buried teeth http://purl.obolibrary.org/obo/HP_0001571 HP:0025516 biolink:PhenotypicFeature Coronary-pulmonary artery fistula A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. hp.json http://purl.obolibrary.org/obo/HP_0025516 HP:0001549 biolink:PhenotypicFeature Abnormal ileum morphology UMLS:C4025762 hp.json Abnormality of the ileum http://purl.obolibrary.org/obo/HP_0001549 HP:0025517 biolink:PhenotypicFeature Hypoplastic hippocampus Underdevelopment of the hippocampus. hp.json Underdeveloped hippocampus|Small hippocampus http://purl.obolibrary.org/obo/HP_0025517 HP:0025518 biolink:PhenotypicFeature Visual gaze preference An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion. hp.json http://purl.obolibrary.org/obo/HP_0025518 HP:0001547 biolink:PhenotypicFeature Abnormal rib cage morphology A morphological anomaly of the rib cage. UMLS:C4025763 hp.json Abnormality of the rib cage http://purl.obolibrary.org/obo/HP_0001547 HP:0001548 biolink:PhenotypicFeature Overgrowth Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. UMLS:C1849265|UMLS:C3150281|UMLS:C1851731 hp.json Generalized overgrowth|General overgrowth|Generalised overgrowth http://purl.obolibrary.org/obo/HP_0001548 HP:0025519 biolink:PhenotypicFeature Multiple biliary hamartomas Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver. hp.json Von Meyenburg complexes|Biliary hamartoma|Multiple bile duct hamartomas http://purl.obolibrary.org/obo/HP_0025519 HP:0001541 biolink:PhenotypicFeature Ascites Accumulation of fluid in the peritoneal cavity. MSH:D001201|SNOMEDCT_US:389026000|UMLS:C0003962 hp.json Accumulation of fluid in the abdomen http://purl.obolibrary.org/obo/HP_0001541 hposlim_core HP:0025510 biolink:PhenotypicFeature Nevus spilus A tan, regularly bordered patch with darker macules within the lesion. hp.json Speckled lentiginous Nevus http://purl.obolibrary.org/obo/HP_0025510 HP:0025511 biolink:PhenotypicFeature Nevus sebaceus A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood. hp.json http://purl.obolibrary.org/obo/HP_0025511 HP:0001540 biolink:PhenotypicFeature Diastasis recti A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). UMLS:C0221766|SNOMEDCT_US:62629000 hp.json Gap between large left and right abdominal muscles http://purl.obolibrary.org/obo/HP_0001540 hposlim_core HP:0001545 biolink:PhenotypicFeature Anteriorly placed anus Anterior malposition of the anus. UMLS:C1838705 hp.json Anus anteposition|Anteriorly displaced anus http://purl.obolibrary.org/obo/HP_0001545 hposlim_core HP:0025512 biolink:PhenotypicFeature Skin-colored papule A papule with the same color as the surrounding skin. hp.json Flesh-colored papule http://purl.obolibrary.org/obo/HP_0025512 HP:0025513 biolink:PhenotypicFeature Scleral rupture Breakage of the sclera. hp.json http://purl.obolibrary.org/obo/HP_0025513 HP:0025514 biolink:PhenotypicFeature Morning glory anomaly An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. hp.json Morning glory optic disc|Morning glory disc anomaly http://purl.obolibrary.org/obo/HP_0025514 HP:0001543 biolink:PhenotypicFeature Gastroschisis A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. MSH:D020139|MEDDRA:10018046|UMLS:C0265706|SNOMEDCT_US:72951007 hp.json http://purl.obolibrary.org/obo/HP_0001543 hposlim_core HP:0001544 biolink:PhenotypicFeature Prominent umbilicus Abnormally prominent umbilicus (belly button). UMLS:C1837795 hp.json Prominent belly button|Prominent navel http://purl.obolibrary.org/obo/HP_0001544 HP:0025515 biolink:PhenotypicFeature Delayed thelarche Later than normal development of the breasts. hp.json http://purl.obolibrary.org/obo/HP_0025515 HP:0025505 biolink:PhenotypicFeature Anomalous origin of the circumflex artery from the right sinus of Valsalva The circumflex coronary artery originates from the right aortic sinus of Valsalva. hp.json http://purl.obolibrary.org/obo/HP_0025505 HP:0025506 biolink:PhenotypicFeature Coronary artery sandwich anomaly Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, hp.json Anomalous coronary artery with aortic origin and course between the great arteries http://purl.obolibrary.org/obo/HP_0025506 HP:0025507 biolink:PhenotypicFeature Yellow papule A papule with yellow color. hp.json Yellow-orange papule http://purl.obolibrary.org/obo/HP_0025507 HP:0001558 biolink:PhenotypicFeature Decreased fetal movement An abnormal reduction in quantity or strength of fetal movements. UMLS:C0235659|SNOMEDCT_US:276369006 hp.json Decreased foetal movement|Decreased foetal activity|Reduced fetal movements|Decreased foetal movements|Reduced fetal movement|Dminished fetal movement|Decreased movement in utero|Less than 10 foetal movements in 12 hours|Reduced foetal movement|Foetal hypokinesia|Reduced foetal movements|Decreased fetal movements|Decreased fetal activity|Less than 10 fetal movements in 12 hours|Fetal hypokinesia http://purl.obolibrary.org/obo/HP_0001558 HP:0025508 biolink:PhenotypicFeature Gottron's papules Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. hp.json Gottron papules http://purl.obolibrary.org/obo/HP_0025508 HP:0025509 biolink:PhenotypicFeature Piezogenic pedal papules Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum. hp.json http://purl.obolibrary.org/obo/HP_0025509 HP:0001552 biolink:PhenotypicFeature Barrel-shaped chest A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. UMLS:C0264172|SNOMEDCT_US:24228002 hp.json Barrel chest|Barrel-shaped chest http://purl.obolibrary.org/obo/HP_0001552 hposlim_core HP:0001551 biolink:PhenotypicFeature Abnormal umbilicus morphology An abnormality of the structure or appearance of the umbilicus. UMLS:C1849338 hp.json Abnormal belly button|Abnormal umbilicus|Abnormal navel http://purl.obolibrary.org/obo/HP_0001551 HP:0025500 biolink:PhenotypicFeature Class II obesity Obesity with a body mass index of 35 to 39.9 kg per square meter. hp.json Obesity grade 2 http://purl.obolibrary.org/obo/HP_0025500 HP:0025501 biolink:PhenotypicFeature Class III obesity Obesity with a body mass index of 40 kg per square meter or higher. hp.json Obesity grade 3 http://purl.obolibrary.org/obo/HP_0025501 HP:0001557 biolink:PhenotypicFeature Prenatal movement abnormality An abnormality of fetal movement. UMLS:C1849510 hp.json Abnormal intrauterine movements http://purl.obolibrary.org/obo/HP_0001557 HP:0025502 biolink:PhenotypicFeature Overweight Increased body weight with a body mass index of 25-29.9 kg per square meter. hp.json http://purl.obolibrary.org/obo/HP_0025502 HP:0025503 biolink:PhenotypicFeature Anomalous coronary artery arising from the opposite sinus Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. hp.json http://purl.obolibrary.org/obo/HP_0025503 HP:0001555 biolink:PhenotypicFeature Asymmetry of the thorax Lack of symmetry between the left and right halves of the thorax. UMLS:C1858033 hp.json Asymmetric chest http://purl.obolibrary.org/obo/HP_0001555 hposlim_core HP:0025574 biolink:PhenotypicFeature Macular hemorrhage Bleeding occurring within the macula lutea of the retina. hp.json Macular haemorrhage http://purl.obolibrary.org/obo/HP_0025574 HP:0025575 biolink:PhenotypicFeature Abnormal superior vena cava morphology Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. Fyler:2820 hp.json http://purl.obolibrary.org/obo/HP_0025575 HP:0025576 biolink:PhenotypicFeature Abnormal inferior vena cava morphology Any structural anomaly of the principal vein draining blood from the lower portion of the body. Fyler:2810 hp.json http://purl.obolibrary.org/obo/HP_0025576 HP:0025578 biolink:PhenotypicFeature Aortic valve prolapse Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus. Fyler:1452 hp.json http://purl.obolibrary.org/obo/HP_0025578 UBERON:0008946 biolink:AnatomicalEntity lung parenchyma A parenchyma that is part of a lung. EMAPA:35522|SCTID:201712001|MA:0003168|FMA:27360 hp.json pulmonary parenchyma|parenchyma of lung|respiratory portion of lung http://purl.obolibrary.org/obo/UBERON_0008946 HP:0025579 biolink:PhenotypicFeature Abnormal left atrium morphology Any structural abnormality of the left atrium. Fyler:3010 hp.json http://purl.obolibrary.org/obo/HP_0025579 UBERON:0008947 biolink:AnatomicalEntity respiratory primordium NCIT:C34283|UMLS:C1514898|EHDAA2:0004069 hp.json http://purl.obolibrary.org/obo/UBERON_0008947 GO:0016421 biolink:MolecularActivity CoA carboxylase activity Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. hp.json http://purl.obolibrary.org/obo/GO_0016421 HP:0025570 biolink:PhenotypicFeature Choroidal vascular hyperpermeability Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA). hp.json Choroidal hyperpermeability http://purl.obolibrary.org/obo/HP_0025570 HP:0025571 biolink:PhenotypicFeature Christmas tree cataract A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. hp.json http://purl.obolibrary.org/obo/HP_0025571 HP:0025572 biolink:PhenotypicFeature Punctal stenosis Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. hp.json Stenosis of the lacrimal punctum|Lacrimal punctum stenosis http://purl.obolibrary.org/obo/HP_0025572 HP:0025573 biolink:PhenotypicFeature Mild myopia A mild form of myopia with up to -3.00 diopters. hp.json http://purl.obolibrary.org/obo/HP_0025573 HP:0025563 biolink:PhenotypicFeature Anterior chamber cells grade 0 Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp.json http://purl.obolibrary.org/obo/HP_0025563 HP:0025564 biolink:PhenotypicFeature Anterior chamber cells grade 2+ Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp.json http://purl.obolibrary.org/obo/HP_0025564 HP:0025565 biolink:PhenotypicFeature Anterior chamber cells grade 3+ Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp.json http://purl.obolibrary.org/obo/HP_0025565 HP:0025566 biolink:PhenotypicFeature Anterior chamber cells grade 4+ Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp.json http://purl.obolibrary.org/obo/HP_0025566 HP:0025567 biolink:PhenotypicFeature Central serous chorioretinopathy An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. hp.json http://purl.obolibrary.org/obo/HP_0025567 HP:0025568 biolink:PhenotypicFeature Abnormal morphology of the choroidal vasculature hp.json http://purl.obolibrary.org/obo/HP_0025568 HP:0025569 biolink:PhenotypicFeature Polypoidal choroidal vasculopathy The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization. hp.json http://purl.obolibrary.org/obo/HP_0025569 HP:0025560 biolink:PhenotypicFeature Anterior chamber cells Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp.json http://purl.obolibrary.org/obo/HP_0025560 HP:0025561 biolink:PhenotypicFeature Anterior chamber cells grade 1+ Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp.json http://purl.obolibrary.org/obo/HP_0025561 HP:0025562 biolink:PhenotypicFeature Anterior chamber cells grade 0.5+ Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp.json http://purl.obolibrary.org/obo/HP_0025562 GO:0016409 biolink:MolecularActivity palmitoyltransferase activity Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule. Reactome:R-HSA-203567|Reactome:R-HSA-5686304 hp.json http://purl.obolibrary.org/obo/GO_0016409 HP:0025552 biolink:PhenotypicFeature Periorbital purpura Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding. hp.json http://purl.obolibrary.org/obo/HP_0025552 HP:0001586 biolink:PhenotypicFeature Vesicovaginal fistula The presence of a fistula connecting the urinary bladder to the vagina. UMLS:C0042582|MSH:D014719|SNOMEDCT_US:89405008 hp.json http://purl.obolibrary.org/obo/HP_0001586 HP:0025553 biolink:PhenotypicFeature Periorbital ecchymosis with tarsal plate sparing Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. hp.json Raccoon eyes http://purl.obolibrary.org/obo/HP_0025553 HP:0001583 biolink:PhenotypicFeature Rotary nystagmus A form of nystagmus in which the eyeball makes rotary motions around the axis. SNOMEDCT_US:95783006|SNOMEDCT_US:44526006|MSH:D009759|UMLS:C0240595 hp.json Rotatory Nystagmus http://purl.obolibrary.org/obo/HP_0001583 hposlim_core HP:0025554 biolink:PhenotypicFeature Yellow nodule A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion). hp.json http://purl.obolibrary.org/obo/HP_0025554 GO:0016406 biolink:MolecularActivity carnitine O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the carnitine molecule. hp.json http://purl.obolibrary.org/obo/GO_0016406 HP:0025555 biolink:PhenotypicFeature Periungual teleangiectasia Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails. hp.json http://purl.obolibrary.org/obo/HP_0025555 HP:0025558 biolink:PhenotypicFeature Lamellar cataract with riders Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. hp.json http://purl.obolibrary.org/obo/HP_0025558 HP:0001587 biolink:PhenotypicFeature obsolete Primary ovarian failure hp.json http://purl.obolibrary.org/obo/HP_0001587 HP:0025559 biolink:PhenotypicFeature Coronary cataract A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. hp.json http://purl.obolibrary.org/obo/HP_0025559 HP:0001581 biolink:PhenotypicFeature Recurrent skin infections Infections of the skin that happen multiple times. UMLS:C1853193 hp.json Cutaneous infections|Skin infections, recurrent|Recurrent skin infections http://purl.obolibrary.org/obo/HP_0001581 HP:0001582 biolink:PhenotypicFeature Redundant skin Loose and sagging skin often associated with loss of skin elasticity. SNOMEDCT_US:201093004|UMLS:C0581342 hp.json Redundant skin folds|Loose redundant skin|Sagging, redundant skin http://purl.obolibrary.org/obo/HP_0001582 HP:0025550 biolink:PhenotypicFeature Elevated circulating ribitol concentration An increase above the normal concentration of ribitol in the blood. hp.json Increased level of ribitol in serum http://purl.obolibrary.org/obo/HP_0025550 HP:0001580 biolink:PhenotypicFeature Pigmented micronodular adrenocortical disease UMLS:C1968851 hp.json http://purl.obolibrary.org/obo/HP_0001580 HP:0025551 biolink:PhenotypicFeature Optic nerve misrouting Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). hp.json Optic pathway misrouting|Visual pathway misrouting http://purl.obolibrary.org/obo/HP_0025551 HP:0025549 biolink:PhenotypicFeature Eccentric visual fixation A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. hp.json Eccentric fixation http://purl.obolibrary.org/obo/HP_0025549 UBERON:0008907 biolink:AnatomicalEntity dermal bone Skeletal element that forms superficially in the organism, usually in association with the ectoderm[VSAO]. XAO:0004015|Wikipedia:Dermal_bone|ZFA:0001590|TAO:0001590|AAO:0010769|VSAO:0000130 hp.json dermal bones http://purl.obolibrary.org/obo/UBERON_0008907 CHEBI:546807 biolink:ChemicalSubstance beta-D-Galp-(1->3)-D-GalpNAc An amino disaccharide consisting of D-galactopyranose at the non-reducing end joined by a (1->3) glycosidic linkage to N-acetyl-D-galactopyranosamine. PMID:2584393|PMID:11294842|PMID:3360006|PMID:2055602|PMID:2470785|PMID:12472179|PMID:19506091|PMID:19443021|PMID:11459848|PMID:15963963|GlyTouCan:G78436BB|PMID:7757427|GlyGen:G78436BB|PMID:11425800|CAS:20972-29-6|PMID:2457603|PMID:19221437|PMID:16776550|PMID:19913595|KEGG:C07278|PMID:9405387|PMID:1291050|PMID:59831|Reaxys:4788642|Beilstein:4788642|PMID:28188832|PMID:2461959|KEGG:G10607|PMID:1933953 hp.json TF epitope|beta-D-galactosyl-(1->3)-N-acetyl-D-galactosamine|beta-D-Galp-(1->3)-D-GalpNAc|WURCS=2.0/2,2,1/[a2112h-1x_1-5_2*NCC/3=O][a2112h-1b_1-5]/1-2/a3-b1|beta-D-Galactopyranosyl-(1->3)-N-acetyl-D-galactosamine|2-(acetylamino)-2-deoxy-3-O-beta-D-galactopyranosyl-D-galactopyranose|2-acetamido-2-deoxy-3-O-beta-D-galactopyranosyl-D-galactopyranose|Thomsen-Friedenreich epitope|beta-D-galactosyl-3-N-acetyl-D-galactosamine|(Gal)1 (GalNAc)1|beta-D-galactopyranosyl-(1->3)-2-acetamido-2-deoxy-D-galactopyranose|Galbeta1-3GalNAc|beta-D-Gal-(1->3)-D-GalNAc|Galbeta1->3GalNAc http://purl.obolibrary.org/obo/CHEBI_546807 3_STAR UBERON:0008909 biolink:AnatomicalEntity perichordal bone Bone element that is adjacent to the notochord. AAO:0010777|VSAO:0000307|ZFA:0001629|TAO:0001639 hp.json perichordal bones|perichordal bone http://purl.obolibrary.org/obo/UBERON_0008909 HP:0001596 biolink:PhenotypicFeature Alopecia A noncongenital process of hair loss, which may progress to partial or complete baldness. MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:56317004|UMLS:C0002170|MEDDRA:10001760 hp.json Hair loss http://purl.obolibrary.org/obo/HP_0001596 hposlim_core HP:0025541 biolink:PhenotypicFeature obsolete Decreased activity of complement receptor hp.json http://purl.obolibrary.org/obo/HP_0025541 HP:0001597 biolink:PhenotypicFeature Abnormality of the nail Abnormality of the nail. SNOMEDCT_US:17790008|MSH:D009264|UMLS:C0853087|MSH:D009260|UMLS:C0027339 hp.json Abnormality of the nail|Nail disease http://purl.obolibrary.org/obo/HP_0001597 GO:0016416 biolink:MolecularActivity O-palmitoyltransferase activity Catalysis of the transfer of a palmitoyl group to an oxygen atom on the acceptor molecule. Reactome:R-HSA-2404137|Reactome:R-HSA-2453855|Reactome:R-HSA-2466710 hp.json http://purl.obolibrary.org/obo/GO_0016416 HP:0001595 biolink:PhenotypicFeature Abnormal hair morphology An abnormality of the hair. UMLS:C2677869|UMLS:C0157733 hp.json Abnormality of the hair shaft|Abnormality of the hair|Hair abnormality http://purl.obolibrary.org/obo/HP_0001595 hposlim_core HP:0025546 biolink:PhenotypicFeature Abnormal mean corpuscular hemoglobin concentration A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. hp.json Abnormal mean corpuscular haemoglobin|Abnormal mean corpuscular haemoglobin concentration|Abnormal MCH|Abnormal MCHC|Abnormal mean corpuscular Hb concentration http://purl.obolibrary.org/obo/HP_0025546 HP:0001598 biolink:PhenotypicFeature Concave nail The natural longitudinal (posterodistal) convex arch is not present or is inverted. UMLS:C0221261|SNOMEDCT_US:66270006 hp.json Spoon-shaped nails|Koilonychia http://purl.obolibrary.org/obo/HP_0001598 hposlim_core HP:0025547 biolink:PhenotypicFeature Decreased mean corpuscular hemoglobin concentration A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. hp.json Decreased mean corpuscular Hb concentration|Decreased mean corpuscular haemoglobin|Decreased mean corpuscular haemoglobin concentration|Decreased MCHC|Decreased MCH http://purl.obolibrary.org/obo/HP_0025547 HP:0025548 biolink:PhenotypicFeature Increased mean corpuscular hemoglobin concentration An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). hp.json Increased mean corpuscular haemoglobin concentration|Increased MCH|Increased mean corpuscular Hb concentration|Increased MCHC|Increased mean corpuscular haemoglobin http://purl.obolibrary.org/obo/HP_0025548 HP:0001592 biolink:PhenotypicFeature Selective tooth agenesis Agenesis specifically affecting one of the classes incisor, premolar, or molar. UMLS:C1970308|UMLS:C4280251 hp.json Absence of a tooth|Agenesis of a tooth|Failure of development of a tooth|Missing a tooth http://purl.obolibrary.org/obo/HP_0001592 HP:0001593 biolink:PhenotypicFeature Maxillary lateral incisor microdontia Decreased size of the maxillary permanent incisor. UMLS:C4280589|UMLS:C4280588|UMLS:C1845111 hp.json Decreased width of upper lateral incisor|Hypotrophic maxillary lateral incisor|Hypotrophic upper lateral incisor|Decreased size of maxillary lateral incisor|Decreased size of upper lateral incisor|Small maxillary lateral incisor|Small upper lateral incisor http://purl.obolibrary.org/obo/HP_0001593 HP:0001591 biolink:PhenotypicFeature Bell-shaped thorax The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. UMLS:C1865186 hp.json Narrow, bell-shaped thorax|Constricted, bell-shaped thorax|Bell-shaped chest http://purl.obolibrary.org/obo/HP_0001591 hposlim_core HP:0025540 biolink:PhenotypicFeature Abnormal T cell subset distribution Any abnormality in the proportion T cells subsets relative to the total number of T cells. hp.json http://purl.obolibrary.org/obo/HP_0025540 HP:0003909 biolink:PhenotypicFeature Cortical subperiosteal resorption of humeral metaphyses UMLS:C4025515 hp.json http://purl.obolibrary.org/obo/HP_0003909 HP:0003904 biolink:PhenotypicFeature Wide epiphyses of the upper limbs UMLS:C4021709 hp.json Broad epiphyses of the upper limbs|Wide end part of upper limb bones http://purl.obolibrary.org/obo/HP_0003904 HP:0003903 biolink:PhenotypicFeature Broad humeral epiphyses Increased width of the humeral epiphysis. UMLS:C4021710 hp.json Wide humeral epiphyses|Wide end part of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003903 HP:0003902 biolink:PhenotypicFeature Epiphyseal stippling of the humerus The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis. UMLS:C4021711 hp.json Stippled ossification of the humeral epiphyses http://purl.obolibrary.org/obo/HP_0003902 HP:0003901 biolink:PhenotypicFeature Stippled calcification of the humeral epiphyses UMLS:C4025519 hp.json http://purl.obolibrary.org/obo/HP_0003901 HP:0003908 biolink:PhenotypicFeature Corner fracture of metaphysis Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. UMLS:C4025516 hp.json Metaphyseal corner fracture|Bucket handle fracture http://purl.obolibrary.org/obo/HP_0003908 HP:0003907 biolink:PhenotypicFeature Abnormal humeral metaphysis morphology UMLS:C4025517 hp.json Abnormality of the humeral metaphyses|Abnormality of the wide portion of the long bone in upper arm http://purl.obolibrary.org/obo/HP_0003907 HP:0003906 biolink:PhenotypicFeature Broad humeral epiphyseal plate Increased width of the humeral epiphyseal growth plate. UMLS:C4280540|UMLS:C4021708 hp.json Wide humeral epiphyseal plate|Wide long bone of arm growth plate http://purl.obolibrary.org/obo/HP_0003906 HP:0003905 biolink:PhenotypicFeature Abnormality of the humeral epiphyseal plate UMLS:C4025518|UMLS:C4280541 hp.json Abnormality of arm long bone growth plate http://purl.obolibrary.org/obo/HP_0003905 HP:0003900 biolink:PhenotypicFeature Small humeral epiphyses UMLS:C4025520 hp.json Small end part of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003900 HP:0003915 biolink:PhenotypicFeature Lytic defects of the humeral metaphysis UMLS:C4025512 hp.json http://purl.obolibrary.org/obo/HP_0003915 HP:0003914 biolink:PhenotypicFeature Irregular ossification of humeral metaphyses UMLS:C4025513 hp.json Irregular bone maturation of the wide portion of the long bone in upper arm http://purl.obolibrary.org/obo/HP_0003914 HP:0003913 biolink:PhenotypicFeature Humeral metaphyseal irregularity UMLS:C4021706 hp.json Irregular wide portion of long bone in upper arm|Irregular humeral metaphyses http://purl.obolibrary.org/obo/HP_0003913 GO:1905383 biolink:BiologicalProcess protein localization to presynapse A process in which a protein is transported to, or maintained in, a location within a presynapse. hp.json recruitment of presynaptic proteins|protein localisation in presynapse|protein localisation to presynapse|protein localization in presynapse http://purl.obolibrary.org/obo/GO_1905383 HP:0003912 biolink:PhenotypicFeature Frayed humeral metaphyses UMLS:C4025514 hp.json http://purl.obolibrary.org/obo/HP_0003912 GO:1905384 biolink:BiologicalProcess regulation of protein localization to presynapse Any process that modulates the frequency, rate or extent of protein localization to presynapse. hp.json regulation of protein localisation in presynapse|regulation of protein localisation to presynapse|regulation of protein localization in presynapse|regulation of recruitment of presynaptic proteins http://purl.obolibrary.org/obo/GO_1905384 GO:1905385 biolink:BiologicalProcess negative regulation of protein localization to presynapse Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to presynapse. hp.json inhibition of protein localisation to presynapse|downregulation of protein localization to presynapse|down-regulation of protein localisation to presynapse|downregulation of recruitment of presynaptic proteins|inhibition of recruitment of presynaptic proteins|negative regulation of protein localisation to presynapse|inhibition of protein localization in presynapse|down-regulation of protein localization in presynapse|negative regulation of protein localization in presynapse|downregulation of protein localisation in presynapse|down regulation of protein localization to presynapse|inhibition of protein localization to presynapse|down regulation of protein localisation in presynapse|down-regulation of protein localization to presynapse|negative regulation of recruitment of presynaptic proteins|down-regulation of recruitment of presynaptic proteins|inhibition of protein localisation in presynapse|downregulation of protein localisation to presynapse|negative regulation of protein localisation in presynapse|down-regulation of protein localisation in presynapse|downregulation of protein localization in presynapse|down regulation of recruitment of presynaptic proteins|down regulation of protein localisation to presynapse|down regulation of protein localization in presynapse http://purl.obolibrary.org/obo/GO_1905385 HP:0003919 biolink:PhenotypicFeature Sclerotic humeral metaphysis with longitudinal striations UMLS:C4025508 hp.json http://purl.obolibrary.org/obo/HP_0003919 GO:1905386 biolink:BiologicalProcess positive regulation of protein localization to presynapse Any process that activates or increases the frequency, rate or extent of protein localization to presynapse. hp.json up regulation of protein localisation in presynapse|up-regulation of protein localization to presynapse|up-regulation of recruitment of presynaptic proteins|upregulation of protein localisation to presynapse|upregulation of protein localization in presynapse|activation of protein localization to presynapse|up regulation of recruitment of presynaptic proteins|up-regulation of protein localisation in presynapse|activation of protein localisation in presynapse|positive regulation of protein localisation to presynapse|activation of recruitment of presynaptic proteins|positive regulation of protein localization in presynapse|positive regulation of recruitment of presynaptic proteins|up regulation of protein localisation to presynapse|up regulation of protein localization in presynapse|upregulation of protein localization to presynapse|upregulation of recruitment of presynaptic proteins|up-regulation of protein localisation to presynapse|up-regulation of protein localization in presynapse|upregulation of protein localisation in presynapse|activation of protein localisation to presynapse|activation of protein localization in presynapse|up regulation of protein localization to presynapse|positive regulation of protein localisation in presynapse http://purl.obolibrary.org/obo/GO_1905386 HP:0003918 biolink:PhenotypicFeature Sclerotic humeral metaphysis UMLS:C4025509 hp.json Stiffening of wide portion of long bone of upper arm|Hardening of wide portion of long bone of upper arm http://purl.obolibrary.org/obo/HP_0003918 HP:0003917 biolink:PhenotypicFeature Pointed humeral metaphysis UMLS:C4025510 hp.json Pointed wide portion of long bone of upper arm http://purl.obolibrary.org/obo/HP_0003917 HP:0003916 biolink:PhenotypicFeature Normal-density transverse humeral bands UMLS:C4025511 hp.json http://purl.obolibrary.org/obo/HP_0003916 HP:0003911 biolink:PhenotypicFeature Flared humeral metaphysis Flaring (increase of width with a splayed appearance) of the humeral metaphysis. UMLS:C4020835|UMLS:C4020912 hp.json Wide/broad humeral metaphysis|Flared wide portion of long bone of upper arm|Flared humerus http://purl.obolibrary.org/obo/HP_0003911 HP:0003910 biolink:PhenotypicFeature Enlarged humeral metaphyses UMLS:C4021707 hp.json Expanded humeral metaphyses|Enlarged wide portion of long bone of upper arm http://purl.obolibrary.org/obo/HP_0003910 HP:0003948 biolink:PhenotypicFeature Irregular epiphyses of the elbow UMLS:C4025486 hp.json Irregular end part of the elbow bone http://purl.obolibrary.org/obo/HP_0003948 HP:0003947 biolink:PhenotypicFeature Delayed elbow epiphyseal ossification A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow. UMLS:C4025487 hp.json Delayed maturation of the end part of the elbow bone http://purl.obolibrary.org/obo/HP_0003947 HP:0003946 biolink:PhenotypicFeature Abnormality of the epiphyses of the elbow UMLS:C4025488 hp.json Abnormality of end part of the elbow bone http://purl.obolibrary.org/obo/HP_0003946 HP:0003945 biolink:PhenotypicFeature Irregular articular surfaces of the elbow joints UMLS:C4025489 hp.json http://purl.obolibrary.org/obo/HP_0003945 HP:0003949 biolink:PhenotypicFeature Abnormal elbow metaphysis morphology UMLS:C4025485 hp.json Abnormal wide portion of elbow bone http://purl.obolibrary.org/obo/HP_0003949 HP:0003940 biolink:PhenotypicFeature Osteoarthritis of the elbow SNOMEDCT_US:239866002|UMLS:C0409954 hp.json http://purl.obolibrary.org/obo/HP_0003940 HP:0003944 biolink:PhenotypicFeature Narrow joint spaces of the elbow UMLS:C4025490 hp.json Narrow joint spaces of the elbow http://purl.obolibrary.org/obo/HP_0003944 HP:0003943 biolink:PhenotypicFeature Abnormality of the joint spaces of the elbow UMLS:C4025491 hp.json Abnormality of the joint spaces of the elbow http://purl.obolibrary.org/obo/HP_0003943 HP:0003942 biolink:PhenotypicFeature Synovial chondromatosis of the elbow UMLS:C4025492 hp.json http://purl.obolibrary.org/obo/HP_0003942 HP:0003941 biolink:PhenotypicFeature Stippled calcification of the elbow UMLS:C4025493 hp.json http://purl.obolibrary.org/obo/HP_0003941 HP:0003959 biolink:PhenotypicFeature Deformed forearm bones UMLS:C4025479 hp.json Deformed forearm bones http://purl.obolibrary.org/obo/HP_0003959 HP:0003958 biolink:PhenotypicFeature Cross-fusion of the forearm bones UMLS:C4025480 hp.json http://purl.obolibrary.org/obo/HP_0003958 HP:0003957 biolink:PhenotypicFeature Cortical thickening of the forearm bones UMLS:C4021842 hp.json http://purl.obolibrary.org/obo/HP_0003957 HP:0003956 biolink:PhenotypicFeature Bowed forearm bones A bending or abnormal curvature affecting either the radius, the ulna, or both. UMLS:C4025481 hp.json Bowed forearm bones http://purl.obolibrary.org/obo/HP_0003956 HP:0003951 biolink:PhenotypicFeature Distal humeral metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow). UMLS:C4021703 hp.json Irregular wide portion of elbow bone|Irregular metaphyses of elbow http://purl.obolibrary.org/obo/HP_0003951 HP:0003950 biolink:PhenotypicFeature Flared elbow metaphyses UMLS:C4025484 hp.json Flared wide portion of elbow bone http://purl.obolibrary.org/obo/HP_0003950 HP:0003955 biolink:PhenotypicFeature Bone-in-a-bone appearance of forearm A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. UMLS:C4025482 hp.json Bone-in-a-bone appearance of forearm http://purl.obolibrary.org/obo/HP_0003955 HP:0003954 biolink:PhenotypicFeature Angulated forearm bones UMLS:C4025483 hp.json Angulated forearm bones http://purl.obolibrary.org/obo/HP_0003954 HP:0003953 biolink:PhenotypicFeature Absent forearm bone Absence of one or more forearm bones associated with congenital failure of development. UMLS:C4021701 hp.json Aplasia of the forearm bones|Absent forearm bone http://purl.obolibrary.org/obo/HP_0003953 HP:0003952 biolink:PhenotypicFeature Sclerotic foci of metaphyses of the elbow UMLS:C4021702 hp.json Vertical linear mixed lucent and sclerotic pattern of metaphyses http://purl.obolibrary.org/obo/HP_0003952 HP:0003926 biolink:PhenotypicFeature Abnormal humeral diaphysis morphology An anomaly of the humeral diaphysis. UMLS:C4025502 hp.json Abnormality of the humeral diaphysis|Abnormality of shaft of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003926 HP:0003924 biolink:PhenotypicFeature Stippled calcification of humeral metaphysis UMLS:C4025503 hp.json Speckled calcification in metaphysis of long bone of upper arm http://purl.obolibrary.org/obo/HP_0003924 HP:0003923 biolink:PhenotypicFeature Square humeral metaphysis UMLS:C4025504 hp.json Square metaphysis of long bone of upper arm http://purl.obolibrary.org/obo/HP_0003923 HP:0003929 biolink:PhenotypicFeature Ground glass opacity of humeral diaphysis UMLS:C4025499 hp.json http://purl.obolibrary.org/obo/HP_0003929 HP:0003928 biolink:PhenotypicFeature Cortical thickening of humeral diaphysis UMLS:C4025500 hp.json http://purl.obolibrary.org/obo/HP_0003928 HP:0003927 biolink:PhenotypicFeature Cortical irregularity of humeral diaphysis An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus. UMLS:C4025501 hp.json http://purl.obolibrary.org/obo/HP_0003927 HP:0003922 biolink:PhenotypicFeature Spurred humeral metaphysis UMLS:C4025505 hp.json Spurred metaphysis of long bone of upper arm http://purl.obolibrary.org/obo/HP_0003922 HP:0003921 biolink:PhenotypicFeature Laterally sloping humeral metaphysis UMLS:C4025506 hp.json Laterally sloping metaphysis of long bone of upper arm http://purl.obolibrary.org/obo/HP_0003921 HP:0003920 biolink:PhenotypicFeature Sloping humeral metaphysis UMLS:C4025507 hp.json Sloping metaphysis of long bone of upper arm http://purl.obolibrary.org/obo/HP_0003920 HP:0003935 biolink:PhenotypicFeature Wide humeral diaphysis Increased width of the humeral diaphysis. UMLS:C4021704 hp.json Broad humeral diaphysis|Wide shaft of long bone in upper arm|Broad shaft of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003935 HP:0003934 biolink:PhenotypicFeature Slender humeral diaphysis UMLS:C4025495 hp.json Slender shaft of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003934 HP:0003939 biolink:PhenotypicFeature Humeroulnar synostosis An abnormal osseous union (fusion) between the ulna and the humerus. SNOMEDCT_US:205330003|UMLS:C0431799 hp.json Humeral ulnar synostosis http://purl.obolibrary.org/obo/HP_0003939 HP:0003938 biolink:PhenotypicFeature Synostosis involving the elbow UMLS:C4025494 hp.json Bone fusion involving the elbow http://purl.obolibrary.org/obo/HP_0003938 HP:0003933 biolink:PhenotypicFeature Sclerosis of humeral diaphysis UMLS:C4025496 hp.json Increased bone density in shaft of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003933 HP:0003932 biolink:PhenotypicFeature Sclerotic foci of humeral diaphysis UMLS:C4025497 hp.json http://purl.obolibrary.org/obo/HP_0003932 HP:0003931 biolink:PhenotypicFeature Periosteal new bone of humeral diaphysis UMLS:C4025498 hp.json http://purl.obolibrary.org/obo/HP_0003931 HP:0003930 biolink:PhenotypicFeature Lytic defects of humeral diaphysis UMLS:C4021705 hp.json Humeral diaphyseal lysis http://purl.obolibrary.org/obo/HP_0003930 GO:0090594 biolink:BiologicalProcess inflammatory response to wounding The immediate defensive reaction by vertebrate tissue to injury caused by chemical or physical agents. hp.json http://purl.obolibrary.org/obo/GO_0090594 GO:0090596 biolink:BiologicalProcess sensory organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. hp.json http://purl.obolibrary.org/obo/GO_0090596 UBERON:0008585 biolink:AnatomicalEntity levator veli palatini The levator veli palatini is the elevator muscle of the velum palatinum in the human body. During swallowing, it contracts, elevating the soft palate to help prevent food from entering the nasopharynx. It is innervated via the pharyngeal plexus, primarily by the vagus nerve (CN X). The levator veli palatini (Levator palati) is a thick, rounded muscle situated lateral to the choanC&. It arises from the under surface of the apex of the petrous part of the temporal bone and from the medial lamina of the cartilage of the auditory tube. After passing above the upper concave margin of the Constrictor pharyngis superior it spreads out in the palatine velum, its fibers extending obliquely downward and medially to the middle line, where they blend with those of the opposite side. FMA:46727 hp.json levator veli|levator palati|levator veli palatini muscle|levator velum palatini muscle|musculus levator veli palatini http://purl.obolibrary.org/obo/UBERON_0008585 UBERON:0008588 biolink:AnatomicalEntity procerus The Procerus is a small pyramidal slip of muscle deep to the superior orbital nerve, artery and vein. FMA:46769 hp.json pyramidalis nasi|pyramidalis nasi|procerus muscle|depressor glabellae|depressor glabellae|musculus procerus glabellae http://purl.obolibrary.org/obo/UBERON_0008588 GO:1905300 biolink:BiologicalProcess positive regulation of intestinal epithelial cell development Any process that activates or increases the frequency, rate or extent of intestinal epithelial cell development. hp.json up regulation of intestinal epithelial cell development|up-regulation of intestinal epithelial cell development|activation of intestinal epithelial cell development|upregulation of intestinal epithelial cell development http://purl.obolibrary.org/obo/GO_1905300 UBERON:0008571 biolink:AnatomicalEntity suprahyoid muscle A muscle in the region above the hyoid bone in the neck. The suprahyoid muscles include digastric, stylohyoid, geniohyoid, and mylohyoid. FMA:46290 hp.json suprahyoid|musculi suprahyoidei|suprahyoidala http://purl.obolibrary.org/obo/UBERON_0008571 UBERON:0008572 biolink:AnatomicalEntity posterior crico-arytenoid The posterior cricoarytenoid muscles are extremely small, paired muscles that extend from the posterior cricoid cartilage to the arytenoid cartilages in the larynx. By rotating the arytenoid cartilages laterally, these muscles abduct the vocal cords and thereby open the rima glottidis. Their action opposes the lateral cricoarytenoid muscles. The posterior cricoarytenoid muscles receive innervation from the recurrent laryngeal branch of the vagus nerve (CN X). Paralysis of the posterior cricoarytenoid muscles may lead to asphyxiation as they are the only laryngeal muscles to open the true vocal folds, allowing inspiration and expiration. FMA:46576 hp.json cricoarytaenoideus posterior|posterior cricoarytenoideus|posterior cricoarytenoid|posterior cricoarytenoid muscle|musculus cricoarytenoideus posterior|cricoarytænoideus posterior http://purl.obolibrary.org/obo/UBERON_0008572 UBERON:0008573 biolink:AnatomicalEntity lateral crico-arytenoid The lateral cricoarytenoid (also anterior cricoarytenoid) muscles extend from the lateral cricoid cartilage to the ipsilateral arytenoid cartilage. By rotating the arytenoid cartilages medially, these muscles adduct the vocal cords and thereby close the rima glottidis, protecting the airway. (Their action is antagonistic to that of the posterior cricoarytenoid muscles. ) The lateral cricoarytenoid muscles receive innervation from the recurrent laryngeal branch of the vagus nerve (CN X). FMA:46579 hp.json cricoarytaenoideus lateralis muscle|lateral cricoarytenoid muscle|cricoarytænoideus lateralis muscle|musculus cricoarytenoideus lateralis|lateral cricoarytenoideus|lateral cricoarytenoid|cricoarytænoideus lateralis|cricoarytaenoideus lateralis http://purl.obolibrary.org/obo/UBERON_0008573 GO:1905310 biolink:BiologicalProcess regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis Any process that modulates the frequency, rate or extent of cardiac neural crest cell migration involved in outflow tract morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_1905310 GO:1905311 biolink:BiologicalProcess negative regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of cardiac neural crest cell migration involved in outflow tract morphogenesis. hp.json inhibition of cardiac neural crest cell migration involved in outflow tract morphogenesis|downregulation of cardiac neural crest cell migration involved in outflow tract morphogenesis|down-regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis|down regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis http://purl.obolibrary.org/obo/GO_1905311 GO:1905304 biolink:BiologicalProcess regulation of cardiac myofibril assembly Any process that modulates the frequency, rate or extent of cardiac myofibril assembly. hp.json regulation of heart myofibril assembly|regulation of cardiac myofibril morphogenesis|regulation of cardiac myofibril development http://purl.obolibrary.org/obo/GO_1905304 GO:1905305 biolink:BiologicalProcess negative regulation of cardiac myofibril assembly Any process that stops, prevents or reduces the frequency, rate or extent of cardiac myofibril assembly. hp.json down regulation of cardiac myofibril morphogenesis|down regulation of cardiac myofibril assembly|down regulation of heart myofibril assembly|inhibition of cardiac myofibril assembly|down-regulation of cardiac myofibril development|negative regulation of cardiac myofibril development|negative regulation of heart myofibril assembly|down-regulation of cardiac myofibril assembly|inhibition of cardiac myofibril morphogenesis|downregulation of cardiac myofibril morphogenesis|down-regulation of heart myofibril assembly|down regulation of cardiac myofibril development|inhibition of heart myofibril assembly|downregulation of cardiac myofibril development|inhibition of cardiac myofibril development|negative regulation of cardiac myofibril morphogenesis|downregulation of cardiac myofibril assembly|downregulation of heart myofibril assembly|down-regulation of cardiac myofibril morphogenesis http://purl.obolibrary.org/obo/GO_1905305 GO:1905306 biolink:BiologicalProcess positive regulation of cardiac myofibril assembly Any process that activates or increases the frequency, rate or extent of cardiac myofibril assembly. hp.json activation of cardiac myofibril assembly|up regulation of cardiac myofibril development|upregulation of cardiac myofibril morphogenesis|up-regulation of cardiac myofibril assembly|activation of cardiac myofibril development|positive regulation of cardiac myofibril development|activation of heart myofibril assembly|upregulation of cardiac myofibril development|upregulation of heart myofibril assembly|up-regulation of cardiac myofibril morphogenesis|upregulation of cardiac myofibril assembly|up regulation of cardiac myofibril morphogenesis|positive regulation of heart myofibril assembly|activation of cardiac myofibril morphogenesis|up regulation of heart myofibril assembly|positive regulation of cardiac myofibril morphogenesis|up regulation of cardiac myofibril assembly|up-regulation of cardiac myofibril development|up-regulation of heart myofibril assembly http://purl.obolibrary.org/obo/GO_1905306 CHEBI:16113 biolink:ChemicalSubstance cholesterol A cholestanoid consisting of cholestane having a double bond at the 5,6-position as well as a 3beta-hydroxy group. CAS:57-88-5|PMID:4696527|PMID:25522988|PMID:8838010|DrugBank:DB04540|PMID:16341241|PMID:24287311|PMID:25977713|CAS:57-88-5|KEGG:C00187|CAS:57-88-5|MetaCyc:CHOLESTEROL|PMID:25451949|Wikipedia:Cholesterol|LIPID_MAPS_instance:LMST01010001|PMID:11412894|KNApSAcK:C00003648|KEGG:D00040|Gmelin:550297|PMID:25658343|PMID:25308664|HMDB:HMDB0000067|PMID:10901445|Beilstein:2060565|PDBeChem:CLR|Reaxys:2060565 hp.json cholest-5-en-3beta-ol|Cholesterol|(3beta,14beta,17alpha)-cholest-5-en-3-ol|CHOLESTEROL|cholesterol|Cholest-5-en-3beta-ol|Cholesterin http://purl.obolibrary.org/obo/CHEBI_16113 3_STAR GO:1905320 biolink:BiologicalProcess regulation of mesenchymal stem cell migration Any process that modulates the frequency, rate or extent of mesenchymal stem cell migration. hp.json http://purl.obolibrary.org/obo/GO_1905320 GO:1905321 biolink:BiologicalProcess negative regulation of mesenchymal stem cell migration Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal stem cell migration. hp.json down-regulation of mesenchymal stem cell migration|down regulation of mesenchymal stem cell migration|inhibition of mesenchymal stem cell migration|downregulation of mesenchymal stem cell migration http://purl.obolibrary.org/obo/GO_1905321 GO:1905322 biolink:BiologicalProcess positive regulation of mesenchymal stem cell migration Any process that activates or increases the frequency, rate or extent of mesenchymal stem cell migration. hp.json upregulation of mesenchymal stem cell migration|up-regulation of mesenchymal stem cell migration|up regulation of mesenchymal stem cell migration|activation of mesenchymal stem cell migration http://purl.obolibrary.org/obo/GO_1905322 PR:000027222 biolink:Protein CALCA gene translation product A protein that is a translation product of the human CALCA gene or a 1:1 ortholog thereof. hp.json CALCA|CALC http://purl.obolibrary.org/obo/PR_000027222 GO:1905312 biolink:BiologicalProcess positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis Any process that activates or increases the frequency, rate or extent of cardiac neural crest cell migration involved in outflow tract morphogenesis. hp.json up-regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis|up regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis|activation of cardiac neural crest cell migration involved in outflow tract morphogenesis|upregulation of cardiac neural crest cell migration involved in outflow tract morphogenesis http://purl.obolibrary.org/obo/GO_1905312 GO:1905315 biolink:BiologicalProcess cell proliferation involved in endocardial cushion morphogenesis Any cell proliferation that is involved in endocardial cushion morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_1905315 GO:1905319 biolink:BiologicalProcess mesenchymal stem cell migration The orderly movement of a mesenchymal stem cell from one site to another. hp.json http://purl.obolibrary.org/obo/GO_1905319 GO:1905330 biolink:BiologicalProcess regulation of morphogenesis of an epithelium Any process that modulates the frequency, rate or extent of morphogenesis of an epithelium. hp.json regulation of epithelium morphogenesis http://purl.obolibrary.org/obo/GO_1905330 GO:1905331 biolink:BiologicalProcess negative regulation of morphogenesis of an epithelium Any process that stops, prevents or reduces the frequency, rate or extent of morphogenesis of an epithelium. hp.json down-regulation of morphogenesis of an epithelium|downregulation of epithelium morphogenesis|down regulation of epithelium morphogenesis|inhibition of epithelium morphogenesis|negative regulation of epithelium morphogenesis|down-regulation of epithelium morphogenesis|downregulation of morphogenesis of an epithelium|down regulation of morphogenesis of an epithelium|inhibition of morphogenesis of an epithelium http://purl.obolibrary.org/obo/GO_1905331 GO:1905332 biolink:BiologicalProcess positive regulation of morphogenesis of an epithelium Any process that activates or increases the frequency, rate or extent of morphogenesis of an epithelium. hp.json upregulation of morphogenesis of an epithelium|up-regulation of epithelium morphogenesis|activation of epithelium morphogenesis|up regulation of morphogenesis of an epithelium|upregulation of epithelium morphogenesis|up-regulation of morphogenesis of an epithelium|activation of morphogenesis of an epithelium|positive regulation of epithelium morphogenesis|up regulation of epithelium morphogenesis http://purl.obolibrary.org/obo/GO_1905332 GO:1905349 biolink:BiologicalProcess ciliary transition zone assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. hp.json ciliary transition zone formation|cilial transition zone formation|cilium transition zone assembly|cilium transition zone formation|cilial transition zone assembly http://purl.obolibrary.org/obo/GO_1905349 UBERON:0008593 biolink:AnatomicalEntity zygomaticus major muscle Facial muscle attached to the modiolus, corner (angle) of the mouth, and zygomatic bone. See Diogo 2008; Diogo et al., 2009; Burrows et al.., 2011., also DuBrul, 1980. NCIT:C53183|FMA:46810|UMLS:C0224115|MFMO:0000138 hp.json auriculolabialis superior|zygomatic major|zygomaticus major|zygomaticcus major|zygomatic major muscle|musculus zygomaticus major|zygomatic muscle http://purl.obolibrary.org/obo/UBERON_0008593 feed_aligned UBERON:0008594 biolink:AnatomicalEntity zygomaticus minor muscle Facial muscle attached to the modiolus, corner (angle) of the mouth, and zygomatic bone. This muscle is ventral to the zygomaticus minor and dorsal to the platysma muscle. In many mammals this muscle also has an attachment to the cartilage of the external ear, in which case it is called the auriculolabialis inferior. See Diogo 2008; Diogo et al., 2009; Burrows et al.., 2011., also DuBrul, 1980. MFMO:0000137|FMA:46811|NCIT:C53184|UMLS:C0224116 hp.json auriculolabialis superior|square muscle of the upper lip, zygomatic head|auriculolabialis superior|musculus quadratus labii superioris, zygomatic head|musculus zygomaticus minor http://purl.obolibrary.org/obo/UBERON_0008594 feed_aligned UBERON:0008595 biolink:AnatomicalEntity levator anguli oris The levator anguli oris (caninus) is a facial muscle of the mouth arising from the canine fossa, immediately below the infraorbital foramen. Its fibers are inserted into the angle of the mouth, intermingling with those of the Zygomaticus, Triangularis, and Orbicularis oris. FMA:46822 hp.json levator anguli oris|musculus levator anguli oris|caninus|levator anguli oris muscle|caninus muscle http://purl.obolibrary.org/obo/UBERON_0008595 UBERON:0008596 biolink:AnatomicalEntity mentalis muscle A muscle of facial expression, innervated by the facial nerve, attached to the skin of the lower lip and inferior to the lower lip (in humans this region is called the chin or mental region), the orbicularis oris muscle, and the mandible in the symphyseal region. See Diogo et al., 2009; Burrows et al., 2011). MFMO:0000122|FMA:46825 hp.json musculus mentalis|mentalis http://purl.obolibrary.org/obo/UBERON_0008596 UBERON:0008597 biolink:AnatomicalEntity depressor anguli oris muscle The Depressor anguli oris (Triangularis) arises from the oblique line of the mandible, whence its fibers converge, to be inserted, by a narrow fasciculus, into the angle of the mouth. FMA:46828|EMAPA:37842 hp.json musculus depressor anguli oris|triangularis|triangularis muscle|depressor anguli oris http://purl.obolibrary.org/obo/UBERON_0008597 UBERON:0008598 biolink:AnatomicalEntity risorius muscle Facial muscle that attaches to the fascia of the masseter muscle and the facia of the skin in the region of the corner (angle) of the mouth. Even in species in which this muscle is present, it is highly variable. A true risorius muscle may only be present in Hominins (humans and great apes). See Diogo 2008; Diogo et al., 2009; Burrows et al.., 2011., also DuBrul, 1980. MFMO:0000141|FMA:46838 hp.json musculus risorius|risorius http://purl.obolibrary.org/obo/UBERON_0008598 feed_aligned CHEBI:28044 biolink:ChemicalSubstance phenylalanine An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group. CAS:150-30-1|Wikipedia:Phenylalanine|PMID:22264337|KEGG:C02057|PMID:17439666|Beilstein:1910407|CAS:150-30-1|Reaxys:1910407|Gmelin:50836 hp.json Phenylalanin|Phenylalanine|2-amino-3-phenylpropanoic acid|PHE|phenylalanine|alpha-Amino-beta-phenylpropionic acid|phenylalanine|DL-Phenylalanine|F|fenilalanina http://purl.obolibrary.org/obo/CHEBI_28044 3_STAR HP:0001288 biolink:PhenotypicFeature Gait disturbance The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. SNOMEDCT_US:22325002|UMLS:C0575081 hp.json Impaired gait|Abnormal walk|Gait abnormalities|Gait difficulties|Abnormal gait|Gait disturbances http://purl.obolibrary.org/obo/HP_0001288 CHEBI:28050 biolink:ChemicalSubstance homocarnosine A histidine derivative that is histidine in which one of the hydrogens attached to the alpha-amino group has been replaced by a 4-aminobutanoyl group. Reaxys:11612459 hp.json N-(4-aminobutanoyl)histidine|N-(4-aminobutyryl)histidine|gamma-Aminobutyryl histidine http://purl.obolibrary.org/obo/CHEBI_28050 3_STAR HP:0025255 biolink:PhenotypicFeature Ameliorated by pregnancy Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female. hp.json Pregnancy relieves symptoms http://purl.obolibrary.org/obo/HP_0025255 HP:0001289 biolink:PhenotypicFeature Confusion Lack of clarity and coherence of thought, perception, understanding, or action. MSH:D003221|SNOMEDCT_US:286933003|UMLS:C0009676 hp.json Mental disorientation|Confusion|Easily confused|Disorientation http://purl.obolibrary.org/obo/HP_0001289 HP:0025256 biolink:PhenotypicFeature Ameliorated by heat Applies to a sign or symptom that is improved or made more bearable by heat (including fever). hp.json Fever improves condition|Heat improves condition|Heat improves symptom http://purl.obolibrary.org/obo/HP_0025256 HP:0025257 biolink:PhenotypicFeature Ameliorated by carbohydrate ingestion Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar). hp.json http://purl.obolibrary.org/obo/HP_0025257 HP:0001287 biolink:PhenotypicFeature Meningitis Inflammation of the meninges. UMLS:C0025289|MSH:D008581|SNOMEDCT_US:7180009 hp.json http://purl.obolibrary.org/obo/HP_0001287 HP:0025258 biolink:PhenotypicFeature Stiff neck A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. hp.json Stiff neck|Neck stiffness http://purl.obolibrary.org/obo/HP_0025258 HP:0025259 biolink:PhenotypicFeature Stiff elbow A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity. hp.json Elbow stiffness|Stiff elbow http://purl.obolibrary.org/obo/HP_0025259 HP:0001281 biolink:PhenotypicFeature Tetany A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. UMLS:C0039621|MSH:D013746|SNOMEDCT_US:10629009 hp.json Intermittent involuntary muscle spasm http://purl.obolibrary.org/obo/HP_0001281 HP:0025250 biolink:PhenotypicFeature Closed comedo A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead. hp.json Whitehead http://purl.obolibrary.org/obo/HP_0025250 HP:0025251 biolink:PhenotypicFeature Open comedo A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black. hp.json Blackhead http://purl.obolibrary.org/obo/HP_0025251 HP:0001284 biolink:PhenotypicFeature Areflexia Absence of neurologic reflexes such as the knee-jerk reaction. UMLS:C0241772|MSH:D012021|UMLS:C0234146|UMLS:C0278124|SNOMEDCT_US:37280007|SNOMEDCT_US:349006 hp.json Absent reflexes|Loss of deep tendon reflexes|Deep tendon reflexes absent|Absent deep tendon reflexes|Absent tendon reflexes http://purl.obolibrary.org/obo/HP_0001284 HP:0025252 biolink:PhenotypicFeature Geographic tongue An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map. hp.json Wandering rash of the tongue|Annulus migrans|Glossitis areata exfoliativa|Benign migratory glossitis|Lingual erythema migrans http://purl.obolibrary.org/obo/HP_0025252 HP:0001285 biolink:PhenotypicFeature Spastic tetraparesis Spastic weakness affecting all four limbs. UMLS:C0575059|SNOMEDCT_US:298282001 hp.json Spastic quadriparesis http://purl.obolibrary.org/obo/HP_0001285 HP:0025253 biolink:PhenotypicFeature Claustrophobia An abnormal fear of being in a closed or narrow space with no escape. hp.json http://purl.obolibrary.org/obo/HP_0025253 CHEBI:53000 biolink:ChemicalSubstance epitope The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds. hp.json epitope function|epitope role|antigenic determinant http://purl.obolibrary.org/obo/CHEBI_53000 3_STAR HP:0025254 biolink:PhenotypicFeature Ameliorated by An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable hp.json Improved by http://purl.obolibrary.org/obo/HP_0025254 HP:0001283 biolink:PhenotypicFeature Bulbar palsy Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. UMLS:C4082299|UMLS:C1301959|SNOMEDCT_US:398432008|MSH:D010244 hp.json Bulbar palsies|Bulbar muscle weakness|Bulbar weakness http://purl.obolibrary.org/obo/HP_0001283 HP:0025244 biolink:PhenotypicFeature Subretinal pigment epithelium hemorrhage An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane. hp.json Subretinal pigment epithelium haemorrhage http://purl.obolibrary.org/obo/HP_0025244 HP:0025245 biolink:PhenotypicFeature Cutaneous cyst A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material. hp.json http://purl.obolibrary.org/obo/HP_0025245 HP:0001297 biolink:PhenotypicFeature Stroke Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. UMLS:C0038454|SNOMEDCT_US:230690007|MSH:D020521 hp.json Cerebrovascular accidents|Cerebral vascular events|Cerebrovascular accident|Stroke http://purl.obolibrary.org/obo/HP_0001297 GO:2000351 biolink:BiologicalProcess regulation of endothelial cell apoptotic process Any process that modulates the frequency, rate or extent of endothelial cell apoptotic process. hp.json regulation of endothelial cell programmed cell death by apoptosis|regulation of programmed cell death of endothelial cells by apoptosis|regulation of programmed cell death, endothelial cells|regulation of endothelial cell apoptosis|regulation of apoptosis of endothelial cells|regulation of killing of endothelial cells http://purl.obolibrary.org/obo/GO_2000351 HP:0025246 biolink:PhenotypicFeature Trichilemmal cyst Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous. hp.json Pilar cyst http://purl.obolibrary.org/obo/HP_0025246 OBO:uberon/core#subdivision_of biolink:NamedThing subdivision of hp.json http://purl.obolibrary.org/obo/uberon/core#subdivision_of HP:0001298 biolink:PhenotypicFeature Encephalopathy Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. MSH:D001927|SNOMEDCT_US:81308009|UMLS:C0085584 hp.json http://purl.obolibrary.org/obo/HP_0001298 GO:2000352 biolink:BiologicalProcess negative regulation of endothelial cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process. hp.json negative regulation of programmed cell death of endothelial cells by apoptosis|negative regulation of apoptosis of endothelial cells|negative regulation of killing of endothelial cells|negative regulation of programmed cell death, endothelial cells|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell programmed cell death by apoptosis http://purl.obolibrary.org/obo/GO_2000352 HP:0025247 biolink:PhenotypicFeature Dermoid cyst A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. hp.json http://purl.obolibrary.org/obo/HP_0025247 HP:0025248 biolink:PhenotypicFeature Eruptive vellus hair cyst A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge. hp.json http://purl.obolibrary.org/obo/HP_0025248 GO:2000353 biolink:BiologicalProcess positive regulation of endothelial cell apoptotic process Any process that activates or increases the frequency, rate or extent of endothelial cell apoptotic process. hp.json positive regulation of endothelial cell apoptosis|positive regulation of apoptosis of endothelial cells|positive regulation of endothelial cell programmed cell death by apoptosis|positive regulation of killing of endothelial cells|positive regulation of programmed cell death of endothelial cells by apoptosis|positive regulation of programmed cell death, endothelial cells http://purl.obolibrary.org/obo/GO_2000353 HP:0025249 biolink:PhenotypicFeature Comedo A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle). hp.json http://purl.obolibrary.org/obo/HP_0025249 HP:0001291 biolink:PhenotypicFeature Abnormal cranial nerve morphology Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. UMLS:C1854510|UMLS:C4020872 hp.json Cranial nerve abnormality|Abnormality of cranial nerve|Abnormality of the cranial nerves|Cranial nerve disease|Cranial nerve involvement http://purl.obolibrary.org/obo/HP_0001291 HP:0001290 biolink:PhenotypicFeature Generalized hypotonia Generalized muscular hypotonia (abnormally low muscle tone). UMLS:C1858120 hp.json Hypotonia, generalized|Generalised decreased muscle tone|Generalized decreased muscle tone|Generalized muscular hypotonia|Hypotonia, generalised|Generalised hypotonia|Generalised muscular hypotonia http://purl.obolibrary.org/obo/HP_0001290 HP:0025240 biolink:PhenotypicFeature Preretinal hemorrhage An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. hp.json Preretinal heme|Preretinal haemorrhage http://purl.obolibrary.org/obo/HP_0025240 HP:0025241 biolink:PhenotypicFeature Flame-shaped retinal hemorrhage A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells). hp.json Flame-shaped retinal haemorrhage|Feathered retinal heme|Linear retina heme http://purl.obolibrary.org/obo/HP_0025241 HP:0025242 biolink:PhenotypicFeature Dot-and-blot retinal hemorrhage Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location. hp.json Round retinal heme|Dot-and-blot retinal haemorrhage http://purl.obolibrary.org/obo/HP_0025242 HP:0001293 biolink:PhenotypicFeature Cranial nerve compression SNOMEDCT_US:95664006|UMLS:C0521670 hp.json http://purl.obolibrary.org/obo/HP_0001293 CHEBI:16042 biolink:ChemicalSubstance halide anion A monoatomic monoanion resulting from the addition of an electron to any halogen atom. KEGG:C00462 hp.json a halide anion|halide anions|halogen anion|Halide|halides|halide(1-)|HX|halide ions http://purl.obolibrary.org/obo/CHEBI_16042 3_STAR HP:0025243 biolink:PhenotypicFeature Subretinal hemorrhage Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium. hp.json Subretinal haemorrhage|Subretinal heme http://purl.obolibrary.org/obo/HP_0025243 CHEBI:16080 biolink:ChemicalSubstance gamma-amino-beta-hydroxybutyric acid A gamma-amino acid comprising 4-aminobutyric acid having a 2-hydroxy substituent. Drug_Central:1263|Beilstein:1752568|KEGG:D00174|CAS:352-21-6|CAS:352-21-6|KEGG:C03678|Beilstein:1721708 hp.json 4-Amino-3-hydroxybutanoic acid|4-amino-3-hydroxybutanoic acid|3-hydroxy-GABA|GABOB|gamma-Amino-beta-hydroxybutyric acid|4-amino-3-hydroxybutyric acid http://purl.obolibrary.org/obo/CHEBI_16080 3_STAR HP:0001266 biolink:PhenotypicFeature Choreoathetosis Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). UMLS:C0234967|UMLS:C0085583|SNOMEDCT_US:43105007 hp.json Choreoathetoid movements http://purl.obolibrary.org/obo/HP_0001266 HP:0025233 biolink:PhenotypicFeature Sleep paralysis An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes. hp.json http://purl.obolibrary.org/obo/HP_0025233 HP:0025234 biolink:PhenotypicFeature Parasomnia An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep. hp.json http://purl.obolibrary.org/obo/HP_0025234 HP:0025235 biolink:PhenotypicFeature Non-rapid eye movement parasomnia A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep). hp.json NREM parasomnia http://purl.obolibrary.org/obo/HP_0025235 HP:0001264 biolink:PhenotypicFeature Spastic diplegia Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. UMLS:C0023882|SNOMEDCT_US:281411007|MSH:D002547 hp.json Spastic diplegic|Spastic diparesis http://purl.obolibrary.org/obo/HP_0001264 HP:0001265 biolink:PhenotypicFeature Hyporeflexia Reduction of neurologic reflexes such as the knee-jerk reaction. SNOMEDCT_US:405946002|UMLS:C0700078 hp.json Decreased reflex response|Decreased reflexes http://purl.obolibrary.org/obo/HP_0001265 HP:0025236 biolink:PhenotypicFeature Somnambulism Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated. hp.json Sleep walking http://purl.obolibrary.org/obo/HP_0025236 HP:0025237 biolink:PhenotypicFeature Confusional arousal A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours. hp.json http://purl.obolibrary.org/obo/HP_0025237 HP:0025238 biolink:PhenotypicFeature Foot pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot. hp.json Foot pain http://purl.obolibrary.org/obo/HP_0025238 HP:0025239 biolink:PhenotypicFeature Subhyaloid hemorrhage A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area. hp.json Subhyaloid haemorrhage|Subhyaloid heme http://purl.obolibrary.org/obo/HP_0025239 HP:0001268 biolink:PhenotypicFeature Mental deterioration Loss of previously present mental abilities, generally in adults. MSH:D060825|UMLS:C0234985 hp.json Progressive cognitive decline|Intellectual deterioration|Cognitive decline, progressive|Mental deterioration|Cognitive decline http://purl.obolibrary.org/obo/HP_0001268 HP:0001269 biolink:PhenotypicFeature Hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. SNOMEDCT_US:127377003|UMLS:C0018989|MSH:D010291|SNOMEDCT_US:20022000 hp.json Weakness of one side of body http://purl.obolibrary.org/obo/HP_0001269 HP:0001262 biolink:PhenotypicFeature Excessive daytime somnolence A state of abnormally strong desire for sleep during the daytime. SNOMEDCT_US:79519003|UMLS:C2830004|SNOMEDCT_US:271782001 hp.json More than typical sleepiness during day|Excessive daytime sleepiness http://purl.obolibrary.org/obo/HP_0001262 HP:0001263 biolink:PhenotypicFeature Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. UMLS:C1864897|UMLS:C0557874|UMLS:C4020875|SNOMEDCT_US:224958001 hp.json Developmental delay, global|Delayed psychomotor development|Psychomotor development deficiency|Delayed development|Retarded psychomotor development|Retarded development|Delayed developmental milestones|Psychomotor developmental delay|Developmental retardation|Delayed intellectual development|Developmental delay|Cognitive delay|Delayed cognitive development|Developmental delay in early childhood|Lack of psychomotor development|Psychomotor development failure|Motor and developmental delay|Psychomotor delay|Mental and motor retardation|Retarded mental development|Motormental retardation|Delayed milestones http://purl.obolibrary.org/obo/HP_0001263 HP:0025230 biolink:PhenotypicFeature Tendonitis Inflammation of a tendon. hp.json Teninitis http://purl.obolibrary.org/obo/HP_0025230 HP:0001260 biolink:PhenotypicFeature Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. MSH:D004401|SNOMEDCT_US:8011004|UMLS:C0013362 hp.json Difficulty articulating speech|Dysarthric speech http://purl.obolibrary.org/obo/HP_0001260 HP:0025231 biolink:PhenotypicFeature Abnormal synovial bursa morphology A structural anomaly of a synovial bursa. hp.json Abnormality of synovial bursa morphology http://purl.obolibrary.org/obo/HP_0025231 HP:0025232 biolink:PhenotypicFeature Bursitis Inflammation of a synovial bursa. hp.json http://purl.obolibrary.org/obo/HP_0025232 CHEBI:16070 biolink:ChemicalSubstance 1,5-anhydro-D-glucitol An anhydro sugar of D-glucitol. PMID:19796288|KEGG:C07326|PMID:18492944|CAS:154-58-5|HMDB:HMDB0002712|CAS:154-58-5|Wikipedia:1,5-Anhydroglucitol|PMID:15277408|Reaxys:80736|PDBeChem:ASO hp.json 1,5-anhydroglucitol|1,5-anhydro-D-sorbitol|1,5-ANHYDROSORBITOL|1,5-anhydro-D-glucitol|1,5-anhydro-D-glucitol|(2R,3S,4R,5S)-2-(hydroxymethyl)oxane-3,4,5-triol|1,5-Anhydroglucitol|1,5-Anhydro-D-sorbitol|1,5-Anhydro-D-glucitol http://purl.obolibrary.org/obo/CHEBI_16070 3_STAR GO:2000379 biolink:BiologicalProcess positive regulation of reactive oxygen species metabolic process Any process that activates or increases the frequency, rate or extent of reactive oxygen species metabolic process. hp.json positive regulation of reactive oxygen species metabolism|positive regulation of ROS metabolic process http://purl.obolibrary.org/obo/GO_2000379 CHEBI:65023 biolink:ChemicalSubstance anti-asthmatic agent Any compound that has anti-asthmatic effects. hp.json anti-asthmatic agents|antiasthmatic agents|antiasthmatic agent http://purl.obolibrary.org/obo/CHEBI_65023 3_STAR HP:0025222 biolink:PhenotypicFeature Triggered by sleep deprivation Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep. hp.json Triggered by sleep deprivation|Sleep deprivation triggered symptoms http://purl.obolibrary.org/obo/HP_0025222 HP:0025223 biolink:PhenotypicFeature Triggered by smoking Applies to a sign or symptom that is provoked or brought about by smoking. hp.json Triggered by cigarette consumption|Triggered by smoking|Triggered by tobacco use|Smoking triggered symptoms http://purl.obolibrary.org/obo/HP_0025223 HP:0001278 biolink:PhenotypicFeature Orthostatic hypotension A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. SNOMEDCT_US:28651003|UMLS:C0020651|MSH:D007024 hp.json Decrease in blood pressure upon standing up|Postural hypotension http://purl.obolibrary.org/obo/HP_0001278 HP:0025224 biolink:PhenotypicFeature Triggered by sodium ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium. hp.json Triggered by sodium intake|Triggered by Na ingestion|Sodium ingestion triggered symptoms|Triggered by salt ingestion|Triggered by Na+ ingestion|Sodium intake triggered attacks http://purl.obolibrary.org/obo/HP_0025224 HP:0025225 biolink:PhenotypicFeature Triggered by sound Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise. hp.json Sound triggered symptoms|Triggered by sound http://purl.obolibrary.org/obo/HP_0025225 HP:0001276 biolink:PhenotypicFeature Hypertonia A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. SNOMEDCT_US:41581000|MSH:D009122|SNOMEDCT_US:56731001|UMLS:C0026826 hp.json Spasticity and rigidity of muscles|Hypertonicity|Muscle hypertonia|Increased muscle tone http://purl.obolibrary.org/obo/HP_0001276 GO:2000374 biolink:BiologicalProcess regulation of oxygen metabolic process Any process that modulates the frequency, rate or extent of oxygen metabolic process. hp.json regulation of oxygen metabolism|regulation of diatomic oxygen metabolic process http://purl.obolibrary.org/obo/GO_2000374 GO:2000375 biolink:BiologicalProcess negative regulation of oxygen metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of oxygen metabolic process. hp.json negative regulation of diatomic oxygen metabolic process|negative regulation of oxygen metabolism http://purl.obolibrary.org/obo/GO_2000375 HP:0025226 biolink:PhenotypicFeature Triggered by stress Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension. hp.json Stress triggered symptoms|Triggered by stress http://purl.obolibrary.org/obo/HP_0025226 GO:2000376 biolink:BiologicalProcess positive regulation of oxygen metabolic process Any process that activates or increases the frequency, rate or extent of oxygen metabolic process. hp.json positive regulation of diatomic oxygen metabolic process|positive regulation of oxygen metabolism http://purl.obolibrary.org/obo/GO_2000376 HP:0025227 biolink:PhenotypicFeature Triggered by excitement Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled. hp.json Triggered by excitement|Excitement triggered symptoms|Triggered by startle http://purl.obolibrary.org/obo/HP_0025227 HP:0025228 biolink:PhenotypicFeature Triggered by sudden movement Applies to a sign or symptom that is provoked or brought about by a sudden movement. hp.json Sudden movement triggered symptoms|Kinesigenic|Triggered by sudden movement http://purl.obolibrary.org/obo/HP_0025228 GO:2000377 biolink:BiologicalProcess regulation of reactive oxygen species metabolic process Any process that modulates the frequency, rate or extent of reactive oxygen species metabolic process. hp.json regulation of reactive oxygen species metabolism|regulation of ROS metabolic process http://purl.obolibrary.org/obo/GO_2000377 HP:0001279 biolink:PhenotypicFeature Syncope Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. SNOMEDCT_US:272030005|SNOMEDCT_US:271594007|MSH:D013575|UMLS:C0039070|SNOMEDCT_US:309585006 hp.json Fainting spell http://purl.obolibrary.org/obo/HP_0001279 HP:0025229 biolink:PhenotypicFeature Triggered by vestibular stimulation Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair. hp.json Vestibular stimulation triggered attacks|Vestibular stimulation triggered symptoms http://purl.obolibrary.org/obo/HP_0025229 GO:2000378 biolink:BiologicalProcess negative regulation of reactive oxygen species metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species metabolic process. hp.json negative regulation of ROS metabolic process|negative regulation of reactive oxygen species metabolism http://purl.obolibrary.org/obo/GO_2000378 HP:0001270 biolink:PhenotypicFeature Motor delay A type of Developmental delay characterized by a delay in acquiring motor skills. UMLS:C1854301|UMLS:C4020874 hp.json Delayed motor milestones|Locomotor delay|Delayed early motor milestones|Motor retardation|Motor developmental milestones not achieved|Delayed motor development|Delay in motor development|Retarded motor development|No development of motor milestones|Motor developmental delay http://purl.obolibrary.org/obo/HP_0001270 HP:0001273 biolink:PhenotypicFeature Abnormal corpus callosum morphology Abnormality of the corpus callosum. UMLS:C1842581 hp.json Abnormal corpus callosum|Corpus callosum abnormality|Abnormality of the corpus callosum http://purl.obolibrary.org/obo/HP_0001273 HP:0001274 biolink:PhenotypicFeature Agenesis of corpus callosum Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Fyler:4321|UMLS:C0175754|SNOMEDCT_US:5102002|MSH:D061085 hp.json Absence of corpus callosum|Absent corpus callosum|Callosal agenesis|Dysplastic or absent corpus callosum|Corpus callosum agenesis|Agenesis of the corpus callosum http://purl.obolibrary.org/obo/HP_0001274 HP:0025220 biolink:PhenotypicFeature Triggered by menstruation Applies to a sign or symptom that is provoked or brought about by menstruation in a female. hp.json Triggered by monthly period|Triggered by period|Menstruation triggered symptoms http://purl.obolibrary.org/obo/HP_0025220 HP:0001271 biolink:PhenotypicFeature Polyneuropathy A generalized disorder of peripheral nerves. SNOMEDCT_US:42658009|MSH:D010523|UMLS:C0031117|MSH:D011115|SNOMEDCT_US:42345000|SNOMEDCT_US:302226006|UMLS:C0152025 hp.json Peripheral nerve disease http://purl.obolibrary.org/obo/HP_0001271 HP:0001272 biolink:PhenotypicFeature Cerebellar atrophy Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. UMLS:C0740279|UMLS:C0262404|UMLS:C4020873|SNOMEDCT_US:95646004 hp.json Atrophic cerebellum|Degeneration of cerebellum|Infratentorial atrophy http://purl.obolibrary.org/obo/HP_0001272 HP:0025221 biolink:PhenotypicFeature Triggered by pregnancy Applies to a sign or symptom that is provoked or brought about by pregnancy in a female. hp.json Pregnancy triggered symptoms|Triggered by pregnancy http://purl.obolibrary.org/obo/HP_0025221 UBERON:0006003 biolink:AnatomicalEntity integumentary adnexa Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. EMAPA:37883|Wikipedia:Skin_appendage hp.json body hair or bristle|skin appendage|skin adnexa|adnexae cutis|skin appendage|adnexae cutis|skin adnexa|skin adnexal structure http://purl.obolibrary.org/obo/UBERON_0006003 pheno_slim UBERON:0006002 biolink:AnatomicalEntity vitelline artery The paired arteries that carry blood to the yolk sac from the dorsal aorta. EHDAA2:0002208|Wikipedia:Vitelline_arteries|EMAPA:16207 hp.json http://purl.obolibrary.org/obo/UBERON_0006002 pheno_slim CHEBI:422 biolink:ChemicalSubstance (S)-lactic acid An optically active form of lactic acid having (S)-configuration. PMID:22538963|Gmelin:362717|PMID:22367529|PMID:22534372|PMID:22461545|Reaxys:1720251|Beilstein:1720251|CAS:79-33-4|PMID:22424924|HMDB:HMDB0000190|CAS:79-33-4|KEGG:C00186|CAS:79-33-4|PMID:21996028|PMID:22443585|Wikipedia:Lactic_Acid|KNApSAcK:C00001191|PMID:22578598|PMID:22336740 hp.json (S)-(+)-lactic acid|(2S)-2-hydroxypropanoic acid|(+)-lactic acid|(S)-2-hydroxypropionic acid|L-(+)-alpha-hydroxypropionic acid|L-(+)-lactic acid|L-Milchsaeure|L-Lactic acid|(S)-2-hydroxypropanoic acid http://purl.obolibrary.org/obo/CHEBI_422 3_STAR HP:0025291 biolink:PhenotypicFeature Lower-body predominance Applies to an abnormality that affects the legs more than the arms, trunk, head. hp.json http://purl.obolibrary.org/obo/HP_0025291 CHEBI:16015 biolink:ChemicalSubstance L-glutamic acid An optically active form of glutamic acid having L-configuration. Wikipedia:L-Glutamic_Acid|LINCS:LSM-36375|PMID:16892196|MetaCyc:GLT|CAS:56-86-0|PMID:15930465|BPDB:2297|Gmelin:3502|HMDB:HMDB0000148|Reaxys:1723801|Beilstein:1723801|CAS:56-86-0|PDBeChem:GLU_LFOH|CAS:56-86-0|PMID:15739367|KNApSAcK:C00001358|PMID:22735334|PMID:22219301|PMID:19581495|DrugBank:DB00142|KEGG:D00007|PMID:16719819|Drug_Central:1310|KEGG:C00025 hp.json Glutamate|L-Glutaminsaeure|GLUTAMIC ACID|E|acido glutamico|L-Glutaminic acid|L-glutamic acid|(S)-2-aminopentanedioic acid|glutamic acid|(2S)-2-aminopentanedioic acid|Glu|L-Glu|L-Glutamic acid|acide glutamique|(S)-glutamic acid|acidum glutamicum http://purl.obolibrary.org/obo/CHEBI_16015 3_STAR HP:0025292 biolink:PhenotypicFeature Acral Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose). hp.json http://purl.obolibrary.org/obo/HP_0025292 UBERON:0006009 biolink:AnatomicalEntity cusp of cardiac valve The part of the heart valves that serves to seal the heart valves when closed. There are three cusps for each valve except for the mitral valve, which has only two (hence its alternate name, 'bicuspid valve'). 'Nodules' are located at the tip of the valve, to form a tighter seal[WP]. NCIT:C33849|FMA:7232|UMLS:C0225923 hp.json cardiac valvular cusp|cardiac valve cusp|cardiac valvule|cardial valve cusp|semilunar valvule http://purl.obolibrary.org/obo/UBERON_0006009 HP:0025293 biolink:PhenotypicFeature Distributed along Blaschko lines Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body. hp.json http://purl.obolibrary.org/obo/HP_0025293 HP:0025294 biolink:PhenotypicFeature Dermatomal Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution. hp.json Radicular http://purl.obolibrary.org/obo/HP_0025294 UBERON:0006008 biolink:AnatomicalEntity fibrous ring of heart A ring of ribrous tissue that surrounds the atrioventricular and arterial orifices. BTO:0003628|FMA:9497|EMAPA:37422 hp.json coronary tendon|Lower's ring|anulus fibrosus of heart|fibrous ring of heart|anulus fibrosus cordis|annulus fibrosus cordis|aortic annulus|atrioventricular ring http://purl.obolibrary.org/obo/UBERON_0006008 CHEBI:16010 biolink:ChemicalSubstance 5-oxoproline An oxoproline having the oxo group placed at the 5-position. It is an intermediate metabolite in the glutathione cycle. Reaxys:82131|Beilstein:82131|Wikipedia:Pyroglutamic_acid|PMID:23217740|CAS:149-87-1|PMID:22770225|CAS:149-87-1|PMID:17439666 hp.json 5-oxoproline|5-Pyrrolidone-2-carboxylic acid|5-oxopyrrolidine-2-carboxylic acid|Pyroglutamic acid|Pyroglutamate|5-Oxoproline|2-pyrrolidone-5-carboxylic acid|Glp|5-OXOPROLINE|5-oxo-DL-proline http://purl.obolibrary.org/obo/CHEBI_16010 3_STAR HP:0025295 biolink:PhenotypicFeature Herpetiform Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections. hp.json http://purl.obolibrary.org/obo/HP_0025295 HP:0025296 biolink:PhenotypicFeature Morbilliform Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent. hp.json http://purl.obolibrary.org/obo/HP_0025296 HP:0025297 biolink:PhenotypicFeature Prolonged Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). hp.json http://purl.obolibrary.org/obo/HP_0025297 NCBITaxon:451864 biolink:OrganismalEntity Dikarya PMID:17572334|PMID:16151185|PMID:17051209|GC_ID:1|PMID:15689432|PMID:17010206 hp.json http://purl.obolibrary.org/obo/NCBITaxon_451864 HP:0025290 biolink:PhenotypicFeature Upper-body predominance Applies to an abnormality that affects the arms, trunk, head more than the legs. hp.json http://purl.obolibrary.org/obo/HP_0025290 NCBITaxon:451866 biolink:OrganismalEntity Taphrinomycotina GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_451866 HP:0025289 biolink:PhenotypicFeature Cervical lymphadenopathy Enlarged lymph nodes in the neck. hp.json Swollen lymph nodes in the neck http://purl.obolibrary.org/obo/HP_0025289 HP:0025280 biolink:PhenotypicFeature Pain characteristic A pain characteristic is defined as a subjective category or type of pain. hp.json http://purl.obolibrary.org/obo/HP_0025280 CHEBI:16004 biolink:ChemicalSubstance (R)-lactate An optically active form of lactate having (R)-configuration. Reaxys:4655978|Beilstein:4655978|Gmelin:362716|MetaCyc:D-LACTATE|KEGG:C00256 hp.json D-2-hydroxypropionate|D-lactate|(R)-lactate|D-2-hydroxypropanoate|(2R)-2-hydroxypropanoate http://purl.obolibrary.org/obo/CHEBI_16004 3_STAR HP:0025281 biolink:PhenotypicFeature Sharp Applied to pain that is described as sharp, i.e., sudden and severe. hp.json http://purl.obolibrary.org/obo/HP_0025281 HP:0025282 biolink:PhenotypicFeature Dull Applied to pain that is dull, i.e., not severe but that continues over a long period of time. hp.json Dull pain http://purl.obolibrary.org/obo/HP_0025282 HP:0025283 biolink:PhenotypicFeature Tender Applied to pain that is tender, i.e., elicited by touching the affected body part. hp.json http://purl.obolibrary.org/obo/HP_0025283 HP:0025284 biolink:PhenotypicFeature Sleep-interrupting Applied to pain that wakes the affecting individual from sleep. hp.json http://purl.obolibrary.org/obo/HP_0025284 HP:0025285 biolink:PhenotypicFeature Aggravated by An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe. hp.json Exacerbated by http://purl.obolibrary.org/obo/HP_0025285 HP:0025286 biolink:PhenotypicFeature Aggravated by activity Applied to a sign or symptom that is aggravated by activity, exertion, or exercise. hp.json Aggravated by exercise|Worsened by activity|Worse with activity|Aggravated by exertion http://purl.obolibrary.org/obo/HP_0025286 HP:0025287 biolink:PhenotypicFeature Axial Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs. hp.json http://purl.obolibrary.org/obo/HP_0025287 HP:0025277 biolink:PhenotypicFeature Gustatory sweating Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating). hp.json http://purl.obolibrary.org/obo/HP_0025277 HP:0025278 biolink:PhenotypicFeature Cold-induced sweating Sweating provoked by cold temperature rather than by heat. hp.json http://purl.obolibrary.org/obo/HP_0025278 HP:0025279 biolink:PhenotypicFeature Migratory hp.json http://purl.obolibrary.org/obo/HP_0025279 HP:0025270 biolink:PhenotypicFeature Abnormal esophagus physiology Any physiological abnormality of the esophagus. hp.json Abnormality of oesophagus physiology|Functional abnormality of the oesophagus|Abnormality of esophagus physiology|Functional abnormality of the esophagus http://purl.obolibrary.org/obo/HP_0025270 HP:0025271 biolink:PhenotypicFeature Esophageal spasms Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful. hp.json http://purl.obolibrary.org/obo/HP_0025271 HP:0025272 biolink:PhenotypicFeature Melasma Symmetrical, blotchy, brownish facial pigmentation. hp.json Chloasma|Facial melanosis http://purl.obolibrary.org/obo/HP_0025272 HP:0025273 biolink:PhenotypicFeature Achilles tendonitis Inflammation of the Achilles tendon. hp.json http://purl.obolibrary.org/obo/HP_0025273 HP:0025274 biolink:PhenotypicFeature Ovarian dermoid cyst An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others. hp.json Mature cystic ovarian teratoma http://purl.obolibrary.org/obo/HP_0025274 HP:0025275 biolink:PhenotypicFeature Lateral Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure. hp.json http://purl.obolibrary.org/obo/HP_0025275 HP:0025276 biolink:PhenotypicFeature Abnormality of skin adnexa physiology Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. hp.json http://purl.obolibrary.org/obo/HP_0025276 HP:0025266 biolink:PhenotypicFeature obsolete Cervical osteoarthritis hp.json http://purl.obolibrary.org/obo/HP_0025266 HP:0025267 biolink:PhenotypicFeature Snoring Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping. hp.json Snores|Snore|Snoring symptoms http://purl.obolibrary.org/obo/HP_0025267 HP:0025268 biolink:PhenotypicFeature Stuttering Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds. hp.json Stuttering|Stammering http://purl.obolibrary.org/obo/HP_0025268 HP:0025269 biolink:PhenotypicFeature Panic attack A sudden episode of intense fear in a situation in which there is no danger or apparent cause. hp.json Panic attack http://purl.obolibrary.org/obo/HP_0025269 HP:0025260 biolink:PhenotypicFeature Stiff wrist A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity. hp.json Wrist stiffness|Stiff wrist http://purl.obolibrary.org/obo/HP_0025260 HP:0025261 biolink:PhenotypicFeature Stiff finger A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity. hp.json Stiff finger|Finger stiffness http://purl.obolibrary.org/obo/HP_0025261 CHEBI:16024 biolink:ChemicalSubstance D-mannose A mannose with D-configuration. hp.json D-mannose|D-manno-hexose http://purl.obolibrary.org/obo/CHEBI_16024 3_STAR NCBITaxon:147554 biolink:OrganismalEntity Schizosaccharomycetes GC_ID:1 hp.json Archiascomycota http://purl.obolibrary.org/obo/NCBITaxon_147554 HP:0025262 biolink:PhenotypicFeature Stiff hip A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity. hp.json Hip stiffness|Stiff hip http://purl.obolibrary.org/obo/HP_0025262 HP:0025263 biolink:PhenotypicFeature Stiff knee A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity. hp.json Knee stiffness|Stiff knee http://purl.obolibrary.org/obo/HP_0025263 HP:0025264 biolink:PhenotypicFeature Stiff ankle A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity. hp.json Ankle stiffness|Stiff ankle http://purl.obolibrary.org/obo/HP_0025264 HP:0025265 biolink:PhenotypicFeature Stiff toe A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity. hp.json Stiff toe|Toe stiffness http://purl.obolibrary.org/obo/HP_0025265 HP:0003869 biolink:PhenotypicFeature Humeral cortical thinning UMLS:C4025541 hp.json http://purl.obolibrary.org/obo/HP_0003869 HP:0003868 biolink:PhenotypicFeature Humeral cortical thickening UMLS:C4025542 hp.json http://purl.obolibrary.org/obo/HP_0003868 HP:0003863 biolink:PhenotypicFeature Angulated humerus UMLS:C4025546 hp.json Angulated long bone in upper arm http://purl.obolibrary.org/obo/HP_0003863 HP:0003862 biolink:PhenotypicFeature Absent humerus Missing humerus bone associated with congenital failure of development. UMLS:C2678399 hp.json Aplasia of the humerus|Absent long bone in upper arm|Aplastic humerus http://purl.obolibrary.org/obo/HP_0003862 hposlim_core HP:0003861 biolink:PhenotypicFeature Broad diaphyses of the upper limbs UMLS:C4021718 hp.json Wide shaft of long bone of the upper limbs|Broad shaft of long bone of the upper limbs|Wide diaphyses of the upper limbs http://purl.obolibrary.org/obo/HP_0003861 HP:0003860 biolink:PhenotypicFeature Diaphyseal sclerosis of the upper limbs An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4025547 hp.json Increased bone density in central part of long bone of upper limbs http://purl.obolibrary.org/obo/HP_0003860 HP:0001204 biolink:PhenotypicFeature Distal symphalangism of hands The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. UMLS:C1862158 hp.json Symphalangism affecting the distal phalanges of the hand|Synostosis of distal phalanges|Fused outermost bones of hand|Terminal symphalangism http://purl.obolibrary.org/obo/HP_0001204 HP:0003867 biolink:PhenotypicFeature Humeral cortical irregularity UMLS:C4025543 hp.json http://purl.obolibrary.org/obo/HP_0003867 HP:0003866 biolink:PhenotypicFeature Coarse humeral trabeculae UMLS:C4025544 hp.json http://purl.obolibrary.org/obo/HP_0003866 HP:0003865 biolink:PhenotypicFeature Bowed humerus A bending or abnormal curvature of the humerus. UMLS:C1859460 hp.json Bowing of the humerus|Humeral bowing|Bowed long bone in upper arm http://purl.obolibrary.org/obo/HP_0003865 hposlim_core HP:0003864 biolink:PhenotypicFeature Bifid humerus Clefting affecting the humerus. UMLS:C4025545 hp.json Notched long bone in upper arm http://purl.obolibrary.org/obo/HP_0003864 HP:0001217 biolink:PhenotypicFeature Clubbing Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. SNOMEDCT_US:367004|UMLS:C0149651 hp.json Digital clubbing|Clubbing of fingers and toes http://purl.obolibrary.org/obo/HP_0001217 HP:0001218 biolink:PhenotypicFeature Autoamputation Spontaneous detachment (amputation) of an appendage from the body. UMLS:C1833222 hp.json http://purl.obolibrary.org/obo/HP_0001218 HP:0003879 biolink:PhenotypicFeature Humeral pseudarthrosis UMLS:C4025532 hp.json False joint (long bone in upper arm) http://purl.obolibrary.org/obo/HP_0003879 HP:0001211 biolink:PhenotypicFeature Abnormal fingertip morphology An abnormal structure of the tip (end) of a finger. UMLS:C4025796 hp.json Abnormality of the fingertips http://purl.obolibrary.org/obo/HP_0001211 HP:0003874 biolink:PhenotypicFeature Humerus varus UMLS:C4025537 hp.json http://purl.obolibrary.org/obo/HP_0003874 hposlim_core HP:0001212 biolink:PhenotypicFeature Prominent fingertip pads A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. UMLS:C1835807 hp.json Persistent fetal fingertip pads|Prominent finger pads|Persistent foetal fingertip pads|Persistence of fingerpads|Prominent fingertip pads http://purl.obolibrary.org/obo/HP_0001212 hposlim_core HP:0003872 biolink:PhenotypicFeature Humeral exostoses Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. UMLS:C4025538 hp.json http://purl.obolibrary.org/obo/HP_0003872 HP:0003871 biolink:PhenotypicFeature Deformed humerus UMLS:C4025539 hp.json Deformed long bone in upper arm http://purl.obolibrary.org/obo/HP_0003871 HP:0003878 biolink:PhenotypicFeature Periosteal new bone of humerus UMLS:C4025533 hp.json http://purl.obolibrary.org/obo/HP_0003878 HP:0001215 biolink:PhenotypicFeature Camptodactyly of 2nd-5th fingers The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. UMLS:C1859368 hp.json http://purl.obolibrary.org/obo/HP_0001215 HP:0001216 biolink:PhenotypicFeature Delayed ossification of carpal bones Ossification of carpal bones occurs later than age-adjusted norms. UMLS:C4280599|UMLS:C1841684 hp.json Delayed carpal ossification|Delayed maturation of wrist bone|Carpal delayed ossification|Delayed maturation of carpal bones|Delayed carpal bone age http://purl.obolibrary.org/obo/HP_0001216 hposlim_core HP:0003877 biolink:PhenotypicFeature Oval transradiancy of humerus UMLS:C4025534 hp.json Humeral oval transradiancy http://purl.obolibrary.org/obo/HP_0003877 HP:0003876 biolink:PhenotypicFeature Osteoporotic humerus UMLS:C4025535 hp.json http://purl.obolibrary.org/obo/HP_0003876 HP:0003875 biolink:PhenotypicFeature Humeral lytic defects Destruction of an area of humerus bone due to a disease process, such as cancer. UMLS:C4025536 hp.json Lytic defects of the humerus http://purl.obolibrary.org/obo/HP_0003875 OBO:hp#layperson biolink:NamedThing layperson term hp.json http://purl.obolibrary.org/obo/hp#layperson GO:0016595 biolink:MolecularActivity glutamate binding Binding to glutamate, the anion of 2-aminopentanedioic acid. hp.json glutamic acid binding http://purl.obolibrary.org/obo/GO_0016595 GO:0016597 biolink:MolecularActivity amino acid binding Binding to an amino acid, organic acids containing one or more amino substituents. hp.json http://purl.obolibrary.org/obo/GO_0016597 goslim_pir|goslim_metagenomics NCBITaxon:147537 biolink:OrganismalEntity Saccharomycotina GC_ID:1 hp.json true yeasts http://purl.obolibrary.org/obo/NCBITaxon_147537 HP:0003870 biolink:PhenotypicFeature Crumpled humerus UMLS:C4025540 hp.json Crumpled long bone in upper arm http://purl.obolibrary.org/obo/HP_0003870 HP:0003849 biolink:PhenotypicFeature Flared upper limb metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. UMLS:C4021721 hp.json Flared metaphyses of the upper limbs|Flared wide portion of the upper limb bone http://purl.obolibrary.org/obo/HP_0003849 HP:0003848 biolink:PhenotypicFeature Cupped metaphyses of the upper limbs UMLS:C4025555 hp.json Cupped wide portion of the upper limb bone http://purl.obolibrary.org/obo/HP_0003848 HP:0003846 biolink:PhenotypicFeature Wide epiphyseal plates of the upper limbs UMLS:C4020913 hp.json Broad epiphyseal plates of the upper limbs|Broad growth plates of upper limbs http://purl.obolibrary.org/obo/HP_0003846 HP:0003841 biolink:PhenotypicFeature Fragmented epiphyses of the upper limbs UMLS:C4025559 hp.json Fragmented end part of upper limb bones http://purl.obolibrary.org/obo/HP_0003841 HP:0003840 biolink:PhenotypicFeature Delayed upper limb epiphyseal ossification A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs. UMLS:C4025560|UMLS:C4280544 hp.json Delayed maturation fo the end part of the upper limb bone http://purl.obolibrary.org/obo/HP_0003840 HP:0003844 biolink:PhenotypicFeature Small epiphyses of the upper limbs UMLS:C4025556 hp.json Small end part of upper limb bones http://purl.obolibrary.org/obo/HP_0003844 HP:0003843 biolink:PhenotypicFeature Round epiphyses of the upper limbs UMLS:C4025557 hp.json Round end part of upper limb bones http://purl.obolibrary.org/obo/HP_0003843 HP:0003842 biolink:PhenotypicFeature Irregular epiphyses of the upper limbs UMLS:C4025558 hp.json Irregular end part of upper limb bones http://purl.obolibrary.org/obo/HP_0003842 HP:0003859 biolink:PhenotypicFeature Cortical diaphyseal thickening of the upper limbs UMLS:C4025548 hp.json http://purl.obolibrary.org/obo/HP_0003859 HP:0003858 biolink:PhenotypicFeature Cortical diaphyseal irregularity of the upper limbs UMLS:C4025549 hp.json http://purl.obolibrary.org/obo/HP_0003858 HP:0003852 biolink:PhenotypicFeature Normal density transverse bands in metaphyses of the upper limbs UMLS:C4025553 hp.json http://purl.obolibrary.org/obo/HP_0003852 HP:0003851 biolink:PhenotypicFeature Lytic defects in metaphyses of the upper limbs UMLS:C4025554 hp.json http://purl.obolibrary.org/obo/HP_0003851 HP:0003850 biolink:PhenotypicFeature Upper-limb metaphyseal irregularity UMLS:C4021720 hp.json Irregular metaphyses of the upper limbs|Irregular wide portion of upper limb bones http://purl.obolibrary.org/obo/HP_0003850 HP:0003856 biolink:PhenotypicFeature Upper limb metaphyseal widening Increased width (breadth) of metaphyses of the arms. UMLS:C4021719 hp.json Broad wide portion of upper limb bone|Wide/broad metaphyses of the upper limbs http://purl.obolibrary.org/obo/HP_0003856 HP:0003855 biolink:PhenotypicFeature Spurred metaphyses of the upper limbs UMLS:C4025550 hp.json Spurred wide portion of upper limb bone http://purl.obolibrary.org/obo/HP_0003855 HP:0003854 biolink:PhenotypicFeature Sclerosis of metaphyses of the upper limbs UMLS:C4025551 hp.json Increased bone density in wide portion of the upper limb bones http://purl.obolibrary.org/obo/HP_0003854 HP:0003853 biolink:PhenotypicFeature Sclerosis with transverse striations in metaphyses of the upper limbs UMLS:C4025552 hp.json http://purl.obolibrary.org/obo/HP_0003853 GO:0004565 biolink:MolecularActivity beta-galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides. Reactome:R-HSA-2265534|Reactome:R-HSA-1630306|Reactome:R-HSA-1605624|Reactome:R-HSA-1793217|MetaCyc:BGALACT-PWY|Reactome:R-HSA-9036061|MetaCyc:3.2.1.23-RXN|EC:3.2.1.23|Reactome:R-HSA-1606312|Reactome:R-HSA-2090079 hp.json exo-(1->4)-beta-D-galactanase activity|beta-D-galactanase activity|beta-lactosidase activity|beta-D-galactoside galactohydrolase activity|beta-D-lactosidase activity|hydrolact http://purl.obolibrary.org/obo/GO_0004565 HP:0025219 biolink:PhenotypicFeature Triggered by vaccination Applies to a sign or symptom that is provoked or brought about by a vaccination. hp.json Triggered by immunization|Vaccination triggered symptoms|Triggered by vaccination|Triggered by immunisation http://purl.obolibrary.org/obo/HP_0025219 CHEBI:28087 biolink:ChemicalSubstance glycogen A polydisperse, highly branched glucan composed of chains of D-glucopyranose residues in alpha(1->4) glycosidic linkage, joined together by alpha(1->6) glycosidic linkages. A small number of alpha(1->3) glycosidic linkages and some cumulative alpha(1->6) links also may occur. The branches in glycogen typically contain 8 to 12 glucose residues. HMDB:HMDB0000757|KEGG:C00182|GlyTouCan:G99991IU|GlyGen:G99991IU|Wikipedia:Glycogen|CAS:9005-79-2|CAS:9005-79-2|MetaCyc:CPD0-971 hp.json liver starch|animal starch|WURCS=2.0/1,4,3/[a2122h-1a_1-5]/1-1-1-1/a4-b1_b4-c1_b6-d1|Glycogen http://purl.obolibrary.org/obo/CHEBI_28087 3_STAR GO:2000382 biolink:BiologicalProcess positive regulation of mesoderm development Any process that activates or increases the frequency, rate or extent of mesoderm development. hp.json http://purl.obolibrary.org/obo/GO_2000382 HP:0025211 biolink:PhenotypicFeature Triggered by ethanol ingestion Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol. hp.json Triggered by alcohol ingestion|Ethanol ingestion triggered symptoms http://purl.obolibrary.org/obo/HP_0025211 HP:0025212 biolink:PhenotypicFeature Triggered by fasting Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting). hp.json Fasting triggered symptoms|Triggered by fasting|Fasting triggered attacks http://purl.obolibrary.org/obo/HP_0025212 HP:0001245 biolink:PhenotypicFeature Small thenar eminence Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. UMLS:C1846474 hp.json Thenar muscle hypoplasia|Hypoplastic thenar eminences|Thenar hypoplasia|Decreased thenar eminence http://purl.obolibrary.org/obo/HP_0001245 hposlim_core GO:2000383 biolink:BiologicalProcess regulation of ectoderm development Any process that modulates the frequency, rate or extent of ectoderm development. hp.json http://purl.obolibrary.org/obo/GO_2000383 HP:0025213 biolink:PhenotypicFeature Triggered by galactose ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose. hp.json Triggered by ingestion of lactose-containing milk http://purl.obolibrary.org/obo/HP_0025213 GO:2000384 biolink:BiologicalProcess negative regulation of ectoderm development Any process that stops, prevents or reduces the frequency, rate or extent of ectoderm development. hp.json http://purl.obolibrary.org/obo/GO_2000384 HP:0025214 biolink:PhenotypicFeature Triggered by heat Applies to a sign or symptom that is provoked or brought about by exposure to heat. hp.json Heat triggered symptoms|Triggered by heat http://purl.obolibrary.org/obo/HP_0025214 GO:2000385 biolink:BiologicalProcess positive regulation of ectoderm development Any process that activates or increases the frequency, rate or extent of ectoderm development. hp.json http://purl.obolibrary.org/obo/GO_2000385 HP:0025215 biolink:PhenotypicFeature Triggered by febrile illness Applies to a sign or symptom that is provoked or brought about by febrile illness. hp.json Febrile illness triggered symptoms|Triggered by fever http://purl.obolibrary.org/obo/HP_0025215 HP:0001248 biolink:PhenotypicFeature Short tubular bones of the hand Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. UMLS:C4025795 hp.json Shortened short tubular bones of the hand http://purl.obolibrary.org/obo/HP_0001248 HP:0001249 biolink:PhenotypicFeature Intellectual disability Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. UMLS:C4020876|UMLS:C0025362|MSH:D008607|UMLS:C0423903|SNOMEDCT_US:91138005|SNOMEDCT_US:247578003|UMLS:C3714756|SNOMEDCT_US:228156007|UMLS:C1843367|UMLS:C0917816 hp.json Mental deficiency|Mental retardation, nonspecific|Mental-retardation|Poor school performance|Intellectual disability|Mental retardation|Nonprogressive mental retardation|Low intelligence|Nonprogressive intellectual disability|Dull intelligence http://purl.obolibrary.org/obo/HP_0001249 HP:0025216 biolink:PhenotypicFeature Triggered by heavy meal Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal. hp.json Triggered by overeating|Heavy meal triggered symptoms http://purl.obolibrary.org/obo/HP_0025216 HP:0025217 biolink:PhenotypicFeature Triggered by high-fat diet Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids. hp.json High-fat diet triggered symptoms|Triggered by high-fat diet http://purl.obolibrary.org/obo/HP_0025217 HP:0025218 biolink:PhenotypicFeature Triggered by hyperventilation Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing. hp.json Triggered by hyperventilation|Hyperventilation triggered symptoms http://purl.obolibrary.org/obo/HP_0025218 HP:0001241 biolink:PhenotypicFeature Capitate-hamate fusion UMLS:C1857002 hp.json Fusion of hamate and capitate|Fused capitate and hamate|Capitate-hamate fusions|Fusion of capitate and hamate http://purl.obolibrary.org/obo/HP_0001241 GO:2000380 biolink:BiologicalProcess regulation of mesoderm development Any process that modulates the frequency, rate or extent of mesoderm development. hp.json http://purl.obolibrary.org/obo/GO_2000380 HP:0025210 biolink:PhenotypicFeature Triggered by glucose ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose. hp.json http://purl.obolibrary.org/obo/HP_0025210 GO:2000381 biolink:BiologicalProcess negative regulation of mesoderm development Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development. hp.json http://purl.obolibrary.org/obo/GO_2000381 CHEBI:16094 biolink:ChemicalSubstance thiosulfate(2-) A divalent inorganic anion obtained by removal of both protons from thiosulfuric acid. CAS:14383-50-7|Gmelin:2031|PDBeChem:THJ hp.json Hyposulfite|trioxidosulfidosulfate(2-)|trioxido-1kappa(3)O-disulfate(S--S)(2-)|sulfurothioate|S2O3|TETRATHIONATE|Thiosulfate|thiosulfate ion(2-)|thiosulphate|thiosulfate|[SO3S](2-)|S2O3(2-) http://purl.obolibrary.org/obo/CHEBI_16094 3_STAR HP:0025208 biolink:PhenotypicFeature Triggered by carbohydrate ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates. hp.json Carbohydrate ingestion triggered symptoms|Triggered by carbohydrate ingestion http://purl.obolibrary.org/obo/HP_0025208 HP:0025209 biolink:PhenotypicFeature Triggered by fructose ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose. hp.json Trigged by fruit sugar http://purl.obolibrary.org/obo/HP_0025209 HP:0025200 biolink:PhenotypicFeature Muscle fiber actin filament accumulation Accumulation in muscle cells of filaments composed of actin. hp.json Muscle fibre actin filament accumulation http://purl.obolibrary.org/obo/HP_0025200 HP:0025201 biolink:PhenotypicFeature Abnormal circulating apolipoprotein concentration A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation. hp.json Abnormal apolipoprotein level http://purl.obolibrary.org/obo/HP_0025201 HP:0001256 biolink:PhenotypicFeature Intellectual disability, mild Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. UMLS:C0026106|SNOMEDCT_US:86765009 hp.json Mild and nonprogressive mental retardation|Mild mental retardation|Intellectual disability, mild|Mental retardation, borderline-mild|Mental retardation, mild http://purl.obolibrary.org/obo/HP_0001256 HP:0025202 biolink:PhenotypicFeature Elevated circulating apolipoprotein A-IV concentration An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II. hp.json Elevated apolipoprotein A-IV level http://purl.obolibrary.org/obo/HP_0025202 HP:0025203 biolink:PhenotypicFeature Caput medusae Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins. hp.json Palm tree sign http://purl.obolibrary.org/obo/HP_0025203 HP:0001254 biolink:PhenotypicFeature Lethargy A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. MSH:D053609|SNOMEDCT_US:214264003|UMLS:C0023380 hp.json Lethargy http://purl.obolibrary.org/obo/HP_0001254 HP:0001259 biolink:PhenotypicFeature Coma Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. ICD-10:R40.2|UMLS:C0009421|MSH:D003128|SNOMEDCT_US:371632003 hp.json Coma http://purl.obolibrary.org/obo/HP_0001259 HP:0025204 biolink:PhenotypicFeature Triggered by A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation. hp.json http://purl.obolibrary.org/obo/HP_0025204 HP:0025205 biolink:PhenotypicFeature Triggered by breast feeding Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant. hp.json Triggered by breastfeeding|Breastfeeding triggered symptoms http://purl.obolibrary.org/obo/HP_0025205 HP:0001257 biolink:PhenotypicFeature Spasticity A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. UMLS:C0026838|SNOMEDCT_US:397790002|MSH:D009128|SNOMEDCT_US:221360009 hp.json Muscular spasticity|Muscle spasticity|Involuntary muscle stiffness, contraction, or spasm http://purl.obolibrary.org/obo/HP_0001257 HP:0025206 biolink:PhenotypicFeature Triggered by cold Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings. hp.json Cold triggered symptoms|Triggered by cold temperature http://purl.obolibrary.org/obo/HP_0025206 HP:0001258 biolink:PhenotypicFeature Spastic paraplegia Spasticity and weakness of the leg and hip muscles. SNOMEDCT_US:192967009|MSH:D010264|UMLS:C0037772 hp.json Spastic paraplegia, lower limb http://purl.obolibrary.org/obo/HP_0001258 HP:0025207 biolink:PhenotypicFeature Triggered by dehydration Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water. hp.json Dehydration triggered symptoms|Triggered by dehydration http://purl.obolibrary.org/obo/HP_0025207 HP:0001251 biolink:PhenotypicFeature Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). UMLS:C0007758|SNOMEDCT_US:85102008|MSH:D002524 hp.json Cerebellar ataxia http://purl.obolibrary.org/obo/HP_0001251 HP:0001252 biolink:PhenotypicFeature Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. SNOMEDCT_US:398152000|SNOMEDCT_US:398151007|MSH:D009123|UMLS:C0026827 hp.json Peripheral hypotonia|Muscle hypotonia|Low muscle tone|Muscular hypotonia|Central hypotonia|Low or weak muscle tone http://purl.obolibrary.org/obo/HP_0001252 HP:0001250 biolink:PhenotypicFeature Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. SNOMEDCT_US:91175000|MSH:D012640|SNOMEDCT_US:128613002|SNOMEDCT_US:246545002|UMLS:C0014544|SNOMEDCT_US:313307000|UMLS:C0036572|MSH:D004827|SNOMEDCT_US:84757009 hp.json Epilepsy|Epileptic seizure|Seizures|Seizures http://purl.obolibrary.org/obo/HP_0001250 HP:0003885 biolink:PhenotypicFeature Undermodeled humerus UMLS:C4025529 hp.json http://purl.obolibrary.org/obo/HP_0003885 HP:0001222 biolink:PhenotypicFeature Spatulate thumbs Spoon-shaped, broad thumbs. UMLS:C0241395 hp.json Spoon shaped thumbs http://purl.obolibrary.org/obo/HP_0001222 GO:0016525 biolink:BiologicalProcess negative regulation of angiogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. hp.json downregulation of angiogenesis|down regulation of angiogenesis|inhibition of angiogenesis|down-regulation of angiogenesis http://purl.obolibrary.org/obo/GO_0016525 HP:0003884 biolink:PhenotypicFeature Triangular humerus UMLS:C4025530 hp.json Triangular long bone of upper arm http://purl.obolibrary.org/obo/HP_0003884 HP:0001223 biolink:PhenotypicFeature Pointed proximal second through fifth metacarpals All of the metacarpal bones of the hand have a pointed proximal appearance. UMLS:C1854787 hp.json http://purl.obolibrary.org/obo/HP_0001223 HP:0001220 biolink:PhenotypicFeature Interphalangeal joint contracture of finger Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. UMLS:C4021784 hp.json Interphalangeal joint flexion contractures http://purl.obolibrary.org/obo/HP_0001220 HP:0003883 biolink:PhenotypicFeature Tapered humerus UMLS:C4025531 hp.json Tapered long bone of upper arm http://purl.obolibrary.org/obo/HP_0003883 GO:0016528 biolink:CellularComponent sarcoplasm The cytoplasm of a muscle cell; includes the sarcoplasmic reticulum. Wikipedia:Sarcoplasm hp.json http://purl.obolibrary.org/obo/GO_0016528 HP:0003882 biolink:PhenotypicFeature Slender humerus Reduction in diameter of the humerus. UMLS:C4021851 hp.json Slender long bone of upper arm http://purl.obolibrary.org/obo/HP_0003882 HP:0001226 biolink:PhenotypicFeature obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits hp.json http://purl.obolibrary.org/obo/HP_0001226 HP:0003889 biolink:PhenotypicFeature Abnormal deltoid tuberosity morphology UMLS:C4025527 hp.json Abnormality of the deltoid tuberosities http://purl.obolibrary.org/obo/HP_0003889 HP:0001227 biolink:PhenotypicFeature Abnormality of the thenar eminence An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. UMLS:C4021783 hp.json Thenar abnormality http://purl.obolibrary.org/obo/HP_0001227 HP:0003888 biolink:PhenotypicFeature Flattened humeral heads UMLS:C3808869 hp.json Flattended head of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003888 HP:0003887 biolink:PhenotypicFeature Abnormal humeral head morphology UMLS:C4025528 hp.json Abnormal head of long bone in upper arm|Abnormality of the humeral heads http://purl.obolibrary.org/obo/HP_0003887 HP:0001225 biolink:PhenotypicFeature Wrist swelling UMLS:C0241760 hp.json Wrist swelling http://purl.obolibrary.org/obo/HP_0001225 HP:0003886 biolink:PhenotypicFeature Wide humerus UMLS:C4021715 hp.json Wide long bone of upper arm|Broad humerus http://purl.obolibrary.org/obo/HP_0003886 HP:0003881 biolink:PhenotypicFeature Humeral sclerosis UMLS:C4021716 hp.json Increased bone density in long bone of upper arm|Sclerosis of humerus http://purl.obolibrary.org/obo/HP_0003881 HP:0003880 biolink:PhenotypicFeature Sclerotic foci of the humerus UMLS:C4021717 hp.json Humeral sclerotic foci http://purl.obolibrary.org/obo/HP_0003880 GO:0004553 biolink:MolecularActivity hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of any O-glycosyl bond. EC:3.2.1.-|Reactome:R-HSA-5694563|Reactome:R-HSA-6786652|Reactome:R-HSA-9661820 hp.json O-glucosyl hydrolase activity http://purl.obolibrary.org/obo/GO_0004553 GO:0004556 biolink:MolecularActivity alpha-amylase activity Catalysis of the endohydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides containing three or more alpha-(1->4)-linked D-glucose units. hp.json 1,4-alpha-D-glucan glucanohydrolase activity http://purl.obolibrary.org/obo/GO_0004556 HP:0001239 biolink:PhenotypicFeature Wrist flexion contracture A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. SNOMEDCT_US:202275008|UMLS:C0409345 hp.json Wrist flexion deformity|Wrist contracture http://purl.obolibrary.org/obo/HP_0001239 HP:0001233 biolink:PhenotypicFeature 2-3 finger syndactyly Syndactyly with fusion of fingers two and three. UMLS:C0432055|SNOMEDCT_US:205139009 hp.json Syndactyly, 2-3 finger|Webbed 2nd-3rd fingers|Syndactyly 2nd-3rd fingers http://purl.obolibrary.org/obo/HP_0001233 HP:0003896 biolink:PhenotypicFeature Irregular humeral epiphyses UMLS:C4025524 hp.json Irregular end part of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003896 HP:0001234 biolink:PhenotypicFeature Hitchhiker thumb With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. UMLS:C1857269 hp.json Hitchhiker thumb|Abducted thumb http://purl.obolibrary.org/obo/HP_0001234 hposlim_core HP:0003895 biolink:PhenotypicFeature Flattened humeral epiphyses UMLS:C4025525 hp.json Flattened end part of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003895 HP:0001231 biolink:PhenotypicFeature Abnormal fingernail morphology An abnormality of the fingernails. UMLS:C4021782 hp.json Abnormal fingernails|Abnormality of the fingernails http://purl.obolibrary.org/obo/HP_0001231 HP:0003894 biolink:PhenotypicFeature Delayed humeral epiphyseal ossification A delay in the process of formation and maturation of the humeral epiphysis. UMLS:C4280543|UMLS:C4021712 hp.json Delayed maturation of the end part of the long bone in upper arm|Delayed maturation/delayed ossification of the humeral epiphyses http://purl.obolibrary.org/obo/HP_0003894 HP:0001232 biolink:PhenotypicFeature Nail bed telangiectasia Telangiectases in the area of the nails. UMLS:C1838167 hp.json Nail bed telangiectases http://purl.obolibrary.org/obo/HP_0001232 HP:0003893 biolink:PhenotypicFeature Advanced ossification of the humeral epiphysis Ossification of the humeral epiphysis at an earlier age than normal. UMLS:C4025526|UMLS:C4020836 hp.json Advanced maturation of the humeral epiphyses|Accelerated maturation of end part of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003893 HP:0001238 biolink:PhenotypicFeature Slender finger Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. UMLS:C1857482 hp.json Slender finger|Narrow fingers|Slender fingers|thin fingers http://purl.obolibrary.org/obo/HP_0001238 hposlim_core HP:0003899 biolink:PhenotypicFeature Round humeral epiphyses UMLS:C4025521 hp.json Round end part of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003899 HP:0003898 biolink:PhenotypicFeature Large humeral epiphyses UMLS:C4025522 hp.json Large end part of long bone in upper arm http://purl.obolibrary.org/obo/HP_0003898 HP:0003897 biolink:PhenotypicFeature Irregular ossification of the humeral epiphyses UMLS:C4025523|UMLS:C4280542 hp.json Irregular maturation of the end part of the long bone in upper arm http://purl.obolibrary.org/obo/HP_0003897 HP:0003892 biolink:PhenotypicFeature Absent humeral epiphyseal ossification Lack of formation of bone in the epiphysis of the humerus. UMLS:C4021713 hp.json Absent maturation of end part of long bone in upper arm|Absent ossification of the humeral epiphyses http://purl.obolibrary.org/obo/HP_0003892 HP:0003891 biolink:PhenotypicFeature Abnormality of the humeral epiphysis An anomaly of the humeral epiphysis. UMLS:C4021714 hp.json Abnormality of the humeral epiphyses|Abnormality of end part of the long bone of the upper arm http://purl.obolibrary.org/obo/HP_0003891 HP:0001230 biolink:PhenotypicFeature Broad metacarpals Abnormally broad metacarpal bones. UMLS:C1842229 hp.json Wide metacarpals|Wide long bones of hand http://purl.obolibrary.org/obo/HP_0001230 hposlim_core HP:0003890 biolink:PhenotypicFeature Prominent deltoid tuberosities UMLS:C2674600 hp.json http://purl.obolibrary.org/obo/HP_0003890 GO:0051078 biolink:BiologicalProcess meiotic nuclear membrane disassembly The cell cycle process in which the controlled breakdown of the nuclear membranes during meiotic cell division occurs. hp.json meiotic nuclear envelope breakdown|meiotic nuclear envelope catabolism|meiotic nuclear envelope degradation|meiotic nuclear envelope disassembly http://purl.obolibrary.org/obo/GO_0051078 GO:0090685 biolink:BiologicalProcess RNA localization to nucleus A macromolecular localization process in which RNA is transported to and maintained in a location within the nucleus. hp.json RNA localisation to nucleus http://purl.obolibrary.org/obo/GO_0090685 UBERON:0018099 biolink:AnatomicalEntity distal mesopodial endochondral element An endochondral element in the distal portion of the mesopodial skeleton, between the central mesopodial skeleton and the metapodial skeleton. hp.json distal mesopodial http://purl.obolibrary.org/obo/UBERON_0018099 GO:0051081 biolink:BiologicalProcess nuclear membrane disassembly The controlled breakdown of the nuclear membranes, for example during cellular division. hp.json nuclear envelope catabolism|nuclear envelope degradation|nuclear envelope disassembly|nuclear envelope breakdown http://purl.obolibrary.org/obo/GO_0051081 GO:1905276 biolink:BiologicalProcess regulation of epithelial tube formation Any process that modulates the frequency, rate or extent of epithelial tube formation. hp.json http://purl.obolibrary.org/obo/GO_1905276 GO:1905277 biolink:BiologicalProcess negative regulation of epithelial tube formation Any process that stops, prevents or reduces the frequency, rate or extent of epithelial tube formation. hp.json inhibition of epithelial tube formation|downregulation of epithelial tube formation|down-regulation of epithelial tube formation|down regulation of epithelial tube formation http://purl.obolibrary.org/obo/GO_1905277 GO:1905278 biolink:BiologicalProcess positive regulation of epithelial tube formation Any process that activates or increases the frequency, rate or extent of epithelial tube formation. hp.json up-regulation of epithelial tube formation|up regulation of epithelial tube formation|activation of epithelial tube formation|upregulation of epithelial tube formation http://purl.obolibrary.org/obo/GO_1905278 GO:1905268 biolink:BiologicalProcess negative regulation of chromatin organization Any process that stops, prevents or reduces the frequency, rate or extent of chromatin organization. hp.json inhibition of establishment or maintenance of chromatin architecture|inhibition of chromatin organisation|down-regulation of establishment or maintenance of chromatin architecture|negative regulation of establishment or maintenance of chromatin architecture|downregulation of chromatin organization|down-regulation of chromatin organisation|negative regulation of chromatin assembly/disassembly|negative regulation of chromatin organisation|negative regulation of chromatin modification|down regulation of chromatin organization|down-regulation of chromatin assembly or disassembly|negative regulation of chromatin assembly or disassembly|inhibition of chromatin organization|inhibition of chromatin assembly or disassembly|down-regulation of chromatin organization|down regulation of chromatin assembly or disassembly|downregulation of establishment or maintenance of chromatin architecture|downregulation of chromatin organisation|downregulation of chromatin assembly or disassembly|down regulation of establishment or maintenance of chromatin architecture|down regulation of chromatin organisation http://purl.obolibrary.org/obo/GO_1905268 GO:1905269 biolink:BiologicalProcess positive regulation of chromatin organization Any process that activates or increases the frequency, rate or extent of chromatin organization. hp.json up regulation of chromatin organization|stimulation of chromatin assembly or disassembly|up regulation of chromatin assembly or disassembly|upregulation of establishment or maintenance of chromatin architecture|upregulation of chromatin assembly or disassembly|activation of chromatin organization|upregulation of chromatin organisation|up-regulation of chromatin organization|positive regulation of chromatin assembly or disassembly|positive regulation of establishment or maintenance of chromatin architecture|positive regulation of chromatin organisation|up regulation of establishment or maintenance of chromatin architecture|up regulation of chromatin organisation|upregulation of chromatin organization|positive regulation of chromatin modification|activation of establishment or maintenance of chromatin architecture|positive regulation of chromatin assembly/disassembly|up-regulation of establishment or maintenance of chromatin architecture|up-regulation of chromatin organisation|activation of chromatin organisation|up-regulation of chromatin assembly or disassembly|activation of chromatin assembly or disassembly http://purl.obolibrary.org/obo/GO_1905269 GO:0051093 biolink:BiologicalProcess negative regulation of developmental process Any process that stops, prevents or reduces the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). hp.json downregulation of developmental process|inhibition of developmental process|down-regulation of developmental process|down regulation of developmental process http://purl.obolibrary.org/obo/GO_0051093 GO:0051094 biolink:BiologicalProcess positive regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). hp.json up-regulation of developmental process|up regulation of developmental process|activation of developmental process|stimulation of developmental process|upregulation of developmental process http://purl.obolibrary.org/obo/GO_0051094 GO:0051098 biolink:BiologicalProcess regulation of binding Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. hp.json http://purl.obolibrary.org/obo/GO_0051098 GO:0051099 biolink:BiologicalProcess positive regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. hp.json up-regulation of binding|up regulation of binding|activation of binding|stimulation of binding|upregulation of binding http://purl.obolibrary.org/obo/GO_0051099 GO:0099003 biolink:BiologicalProcess vesicle-mediated transport in synapse Any vesicle-mediated transport that occurs in a synapse. hp.json http://purl.obolibrary.org/obo/GO_0099003 goslim_synapse GO:1905288 biolink:BiologicalProcess vascular associated smooth muscle cell apoptotic process Any apoptotic process in a vascular associated smooth muscle cell. hp.json vascular smooth muscle cell apoptosis|vascular associated smooth muscle cell apoptosis|vascular smooth muscle cell apoptotic process|VSMC apoptosis|VSMC apoptotic process http://purl.obolibrary.org/obo/GO_1905288 UBERON:0006098 biolink:AnatomicalEntity basal nuclear complex The deep nuclei of telencephalic origin found in the basal region of the forebrain. BAMS:BNC|EV:0100182|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=224|UMLS:C0004781|BIRNLEX:1629|BAMS:BG hp.json basal ganglia (anatomic)|basal nuclei|ganglia basales|corpus striatum (Savel'ev)|basal ganglia|basal nuclei of the forebrain http://purl.obolibrary.org/obo/UBERON_0006098 GO:0099054 biolink:BiologicalProcess presynapse assembly The aggregation, arrangement and bonding together of a set of components to form a presynapse. hp.json presynaptic terminal assembly|presynapse biogenesis http://purl.obolibrary.org/obo/GO_0099054 goslim_synapse GO:1905292 biolink:BiologicalProcess regulation of neural crest cell differentiation Any process that modulates the frequency, rate or extent of neural crest cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_1905292 GO:1905293 biolink:BiologicalProcess negative regulation of neural crest cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of neural crest cell differentiation. hp.json inhibition of neural crest cell differentiation|downregulation of neural crest cell differentiation|down-regulation of neural crest cell differentiation|down regulation of neural crest cell differentiation http://purl.obolibrary.org/obo/GO_1905293 HP:0001406 biolink:PhenotypicFeature Intrahepatic cholestasis Impairment of bile flow due to obstruction in the small bile ducts within the liver. UMLS:C0008372|SNOMEDCT_US:4637005|MSH:D002780 hp.json Impaired release of bile from liver http://purl.obolibrary.org/obo/HP_0001406 GO:1905294 biolink:BiologicalProcess positive regulation of neural crest cell differentiation Any process that activates or increases the frequency, rate or extent of neural crest cell differentiation. hp.json up-regulation of neural crest cell differentiation|up regulation of neural crest cell differentiation|activation of neural crest cell differentiation|upregulation of neural crest cell differentiation http://purl.obolibrary.org/obo/GO_1905294 HP:0001407 biolink:PhenotypicFeature Hepatic cysts UMLS:C0267834|SNOMEDCT_US:85057007 hp.json Liver cysts http://purl.obolibrary.org/obo/HP_0001407 HP:0001404 biolink:PhenotypicFeature Hepatocellular necrosis UMLS:C1855038 hp.json Death of liver cells|Hepatocellular loss http://purl.obolibrary.org/obo/HP_0001404 HP:0001405 biolink:PhenotypicFeature Periportal fibrosis The presence of fibrosis affecting the interlobular stroma of liver. UMLS:C1849766 hp.json http://purl.obolibrary.org/obo/HP_0001405 GO:1905298 biolink:BiologicalProcess regulation of intestinal epithelial cell development Any process that modulates the frequency, rate or extent of intestinal epithelial cell development. hp.json http://purl.obolibrary.org/obo/GO_1905298 HP:0001408 biolink:PhenotypicFeature Bile duct proliferation Proliferative changes of the bile ducts. SNOMEDCT_US:20239009|UMLS:C0267818 hp.json Proliferation of bile canaliculi http://purl.obolibrary.org/obo/HP_0001408 GO:1905299 biolink:BiologicalProcess negative regulation of intestinal epithelial cell development Any process that stops, prevents or reduces the frequency, rate or extent of intestinal epithelial cell development. hp.json downregulation of intestinal epithelial cell development|down regulation of intestinal epithelial cell development|inhibition of intestinal epithelial cell development|down-regulation of intestinal epithelial cell development http://purl.obolibrary.org/obo/GO_1905299 HP:0001409 biolink:PhenotypicFeature Portal hypertension Increased pressure in the portal vein. SNOMEDCT_US:34742003|MSH:D006975|UMLS:C0020541 hp.json http://purl.obolibrary.org/obo/HP_0001409 HP:0001402 biolink:PhenotypicFeature Hepatocellular carcinoma A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. UMLS:C2239176|SNOMEDCT_US:109841003|MSH:D006528|SNOMEDCT_US:25370001|UMLS:C1867955|SNOMEDCT_US:187769009|UMLS:C1862761|NCIT:C3099 hp.json Increased incidence of hepatocellular carcinoma|Increased hepatocellular carcinoma risk http://purl.obolibrary.org/obo/HP_0001402 HP:0001403 biolink:PhenotypicFeature Macrovesicular hepatic steatosis A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. UMLS:C1837256 hp.json Macrovesicular steatosis http://purl.obolibrary.org/obo/HP_0001403 HP:0001400 biolink:PhenotypicFeature obsolete Hepatic abscesses due to immunodeficiency hp.json http://purl.obolibrary.org/obo/HP_0001400 HP:0001401 biolink:PhenotypicFeature Intrahepatic biliary dysgenesis UMLS:C1859235 hp.json http://purl.obolibrary.org/obo/HP_0001401 GO:0099068 biolink:BiologicalProcess postsynapse assembly The aggregation, arrangement and bonding together of a set of components to form a postsynapse. hp.json postsynapse biogenesis http://purl.obolibrary.org/obo/GO_0099068 HP:0001417 biolink:PhenotypicFeature X-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. UMLS:C0241764|MSH:D050172|SNOMEDCT_US:263934009 hp.json monoallelic_X_hemizygous|X-linked form|X-linked http://purl.obolibrary.org/obo/HP_0001417 HP:0001419 biolink:PhenotypicFeature X-linked recessive inheritance A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. UMLS:C1845977 hp.json X-linked recessive http://purl.obolibrary.org/obo/HP_0001419 HP:0001410 biolink:PhenotypicFeature Decreased liver function Reduced ability of the liver to perform its functions. SNOMEDCT_US:75183008|UMLS:C0232744|UMLS:C0086565|UMLS:C3279149|MSH:D008107|SNOMEDCT_US:77981007 hp.json Decreased liver function|Liver dysfunction|Liver dysfunction, mild|Hepatopathy http://purl.obolibrary.org/obo/HP_0001410 HP:0001413 biolink:PhenotypicFeature Micronodular cirrhosis A type of cirrhosis characterized by the presence of small regenerative nodules. SNOMEDCT_US:21861000|UMLS:C0267812 hp.json http://purl.obolibrary.org/obo/HP_0001413 HP:0001414 biolink:PhenotypicFeature Microvesicular hepatic steatosis A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. UMLS:C1850415 hp.json Microvesicular steatosis http://purl.obolibrary.org/obo/HP_0001414 HP:0001412 biolink:PhenotypicFeature Enteroviral hepatitis Inflammation of the liver due to infection with enterovirus. UMLS:C1843995 hp.json http://purl.obolibrary.org/obo/HP_0001412 GO:0002089 biolink:BiologicalProcess lens morphogenesis in camera-type eye The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. hp.json lens morphogenesis in camera-style eye|lens morphogenesis http://purl.obolibrary.org/obo/GO_0002089 GO:0014070 biolink:BiologicalProcess response to organic cyclic compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. hp.json response to organic cyclic substance http://purl.obolibrary.org/obo/GO_0014070 GO:0002085 biolink:BiologicalProcess inhibition of neuroepithelial cell differentiation Any process that prevents the activation of neuroepithelial cell differentiation. Neuroepithelial cell differentiation is the process in which epiblast cells acquire specialized features of neuroepithelial cells. hp.json negative regulation of neural plate formation|repression of premature neural plate formation http://purl.obolibrary.org/obo/GO_0002085 GO:0002087 biolink:BiologicalProcess regulation of respiratory gaseous exchange by nervous system process A process carried out by the nervous system that is required for the proper control of respiratory gaseous exchange. This process occurs in the respiratory center of the brain in vertebrates. hp.json regulation of respiratory gaseous exchange by neurological system process|neurological control of breathing http://purl.obolibrary.org/obo/GO_0002087 GO:0002088 biolink:BiologicalProcess lens development in camera-type eye The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. hp.json lens development in camera-style eye|lens development http://purl.obolibrary.org/obo/GO_0002088 GO:0014063 biolink:BiologicalProcess negative regulation of serotonin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin. hp.json positive regulation of serotonin release|down-regulation of serotonin secretion|down regulation of serotonin secretion|inhibition of serotonin secretion|downregulation of serotonin secretion http://purl.obolibrary.org/obo/GO_0014063 GO:0014062 biolink:BiologicalProcess regulation of serotonin secretion Any process that modulates the frequency, rate or extent of the regulated release of serotonin. hp.json regulation of serotonin release http://purl.obolibrary.org/obo/GO_0014062 GO:0014061 biolink:BiologicalProcess regulation of norepinephrine secretion Any process that modulates the frequency, rate or extent of the regulated release of norepinephrine. hp.json regulation of noradrenaline secretion http://purl.obolibrary.org/obo/GO_0014061 GO:0014064 biolink:BiologicalProcess positive regulation of serotonin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin. hp.json positive regulation of serotonin release|stimulation of serotonin secretion|upregulation of serotonin secretion|up-regulation of serotonin secretion|up regulation of serotonin secretion|activation of serotonin secretion http://purl.obolibrary.org/obo/GO_0014064 GO:0038023 biolink:MolecularActivity signaling receptor activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. hp.json receptor activity|receptor activity involved in signal transduction|signalling receptor activity http://purl.obolibrary.org/obo/GO_0038023 goslim_pir|goslim_plant|goslim_flybase_ribbon|goslim_drosophila|goslim_chembl|goslim_mouse|goslim_metagenomics|goslim_agr GO:0014075 biolink:BiologicalProcess response to amine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amine stimulus. An amine is a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. hp.json response to amine stimulus http://purl.obolibrary.org/obo/GO_0014075 UBERON:0006049 biolink:AnatomicalEntity digit 2 A digit that is part of a digit 2 plus metapodial segment. EMAPA:37286 hp.json autopod digit 2|second digit|limb digit 2|digit II http://purl.obolibrary.org/obo/UBERON_0006049 UBERON:0006048 biolink:AnatomicalEntity digit 1 A digit that is part of a digit 1 plus metapodial segment. MA:0003023|EMAPA:37285 hp.json limb digit 1|autopod digit 1|digit I|dewclaw http://purl.obolibrary.org/obo/UBERON_0006048 pheno_slim NCBITaxon:41665 biolink:OrganismalEntity Neopterygii GC_ID:1 hp.json Neopterygi http://purl.obolibrary.org/obo/NCBITaxon_41665 UBERON:0006010 biolink:AnatomicalEntity hyaloid canal A small transparent canal running through the vitreous body from the optical nerve disc to the lens. It is formed by an invagination of the hyaloid, a membrane which encloses the vitreous body[WP]. FMA:58837 hp.json canal of Cloquet|Stilling's canal|Cloquet's canal|canalis hyaloideus http://purl.obolibrary.org/obo/UBERON_0006010 PR:P13595 biolink:Protein neural cell adhesion molecule 1 (mouse) A neural cell adhesion molecule 1 that is encoded in the genome of mouse. UniProtKB:P13595 hp.json Ncam1|NCAM-1 (mouse)|N-CAM-1 (mouse)|CD56 (mouse)|mNCAM1|Ncam http://purl.obolibrary.org/obo/PR_P13595 GO:1905207 biolink:BiologicalProcess regulation of cardiocyte differentiation Any process that modulates the frequency, rate or extent of cardiocyte differentiation. hp.json regulation of cardiac cell differentiation|regulation of heart cell differentiation http://purl.obolibrary.org/obo/GO_1905207 GO:1905208 biolink:BiologicalProcess negative regulation of cardiocyte differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiocyte differentiation. hp.json down regulation of cardiocyte differentiation|down regulation of heart cell differentiation|inhibition of cardiocyte differentiation|downregulation of cardiac cell differentiation|inhibition of heart cell differentiation|down-regulation of cardiocyte differentiation|down-regulation of heart cell differentiation|negative regulation of heart cell differentiation|down regulation of cardiac cell differentiation|inhibition of cardiac cell differentiation|negative regulation of cardiac cell differentiation|down-regulation of cardiac cell differentiation|downregulation of cardiocyte differentiation|downregulation of heart cell differentiation http://purl.obolibrary.org/obo/GO_1905208 GO:1905209 biolink:BiologicalProcess positive regulation of cardiocyte differentiation Any process that activates or increases the frequency, rate or extent of cardiocyte differentiation. hp.json up-regulation of cardiac cell differentiation|upregulation of cardiocyte differentiation|activation of cardiac cell differentiation|upregulation of heart cell differentiation|positive regulation of heart cell differentiation|up regulation of cardiocyte differentiation|upregulation of cardiac cell differentiation|up regulation of heart cell differentiation|up-regulation of cardiocyte differentiation|activation of cardiocyte differentiation|up-regulation of heart cell differentiation|positive regulation of cardiac cell differentiation|activation of heart cell differentiation|up regulation of cardiac cell differentiation http://purl.obolibrary.org/obo/GO_1905209 GO:0051049 biolink:BiologicalProcess regulation of transport Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0051049 goslim_yeast GO:0051047 biolink:BiologicalProcess positive regulation of secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. hp.json stimulation of secretion|upregulation of secretion|up-regulation of secretion|up regulation of secretion|activation of secretion http://purl.obolibrary.org/obo/GO_0051047 GO:0051048 biolink:BiologicalProcess negative regulation of secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. hp.json down-regulation of secretion|down regulation of secretion|inhibition of secretion|downregulation of secretion http://purl.obolibrary.org/obo/GO_0051048 UBERON:0006072 biolink:AnatomicalEntity cervical region of vertebral column That portion of the spine comprising the cervical vertebrae. The neck area of the spine. FMA:24138|BTO:0004148|EHDAA:5051|EMAPA:17215|UMLS:C0728985|EHDAA2:0000238|AAO:0000092|NCIT:C69313|MA:0003154 hp.json cervical skeleton|cervical vertebrae series|axial skeleton cervical region|cervical spinal column|cervical spine|cervical vertebral column|skeletal system of neck http://purl.obolibrary.org/obo/UBERON_0006072 pheno_slim UBERON:0006071 biolink:AnatomicalEntity caudal region Subdivision of an organism along anterior-posterior axis that is the posteriormost region, extending past the anus (or cloaca, if present), consisting of a tail in some fully formed chordates (or a tail bud in embryos). In animals that have a sacral region, this is the region immediately posterior to this. XAO:0000087 hp.json post-anal caudal region|tail region|postsacral region|post-anal tail region http://purl.obolibrary.org/obo/UBERON_0006071 GO:1905223 biolink:BiologicalProcess epicardium morphogenesis The developmental process by which an epicardium is generated and organized. hp.json visceral serous pericardium proper morphogenesis|visceral serous pericardium of heart morphogenesis|pericardium visceral mesothelium morphogenesis|heart epicardium morphogenesis http://purl.obolibrary.org/obo/GO_1905223 GO:1905213 biolink:BiologicalProcess negative regulation of mitotic chromosome condensation Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation. hp.json http://purl.obolibrary.org/obo/GO_1905213 GO:1905214 biolink:BiologicalProcess regulation of RNA binding Any process that modulates the frequency, rate or extent of RNA binding. hp.json http://purl.obolibrary.org/obo/GO_1905214 GO:1905215 biolink:BiologicalProcess negative regulation of RNA binding Any process that stops, prevents or reduces the frequency, rate or extent of RNA binding. hp.json down-regulation of RNA binding|down regulation of RNA binding|downregulation of RNA binding|inhibition of RNA binding http://purl.obolibrary.org/obo/GO_1905215 UBERON:0006077 biolink:AnatomicalEntity subdivision of vertebral column A collection of all skeletal elements in some subdivision of the vertebral column. FMA:16201 hp.json vertebral subdivision|vertebral series|vertebral column subdivision|vertebral region|vertebrae series|subdivision of vertebral skeleton http://purl.obolibrary.org/obo/UBERON_0006077 non_informative GO:1905216 biolink:BiologicalProcess positive regulation of RNA binding Any process that activates or increases the frequency, rate or extent of RNA binding. hp.json activation of RNA binding|upregulation of RNA binding|up-regulation of RNA binding|up regulation of RNA binding http://purl.obolibrary.org/obo/GO_1905216 UBERON:0006076 biolink:AnatomicalEntity caudal region of vertebral column Subdivision of vertebral column that corresponds to the caudal subdivision of the body, containing the caudal vertebrae. AAO:0000082|MA:0003158|EMAPA:18043 hp.json caudal vertebrae series|tail region|caudal skeleton|axial skeleton tail region|postsacral region|caudal region http://purl.obolibrary.org/obo/UBERON_0006076 UBERON:0006075 biolink:AnatomicalEntity sacral region of vertebral column Subdivision of vertebral column that corresponds to the sacral subdivision of the body, containing the sacral vertebrae or sacrum. GAID:32|NCIT:C33508|EMAPA:17676|AAO:0000724|MA:0003157|EHDAA:5059|EHDAA2:0001772 hp.json sacral vertebrae series|axial skeleton sacral region|sacral skeleton|sacrum http://purl.obolibrary.org/obo/UBERON_0006075 UBERON:0006074 biolink:AnatomicalEntity lumbar region of vertebral column Subdivision of vertebral column that corresponds to the lumbar subdivision of the body, containing the lumbar vertebrae. EHDAA:5055|BTO:0004147|GAID:31|FMA:16203|EHDAA2:0001037|NCIT:C69314|MA:0003156|EMAPA:17393 hp.json lumbar skeleton|lumbar spine|lumbar vertebrae series|axial skeleton lumbar region|lumbar vertebral column http://purl.obolibrary.org/obo/UBERON_0006074 pheno_slim UBERON:0006073 biolink:AnatomicalEntity thoracic region of vertebral column That part of the spine comprising the thoracic vertebrae. UMLS:C0581269|FMA:9140|EHDAA:5063|AAO:0000612|NCIT:C69315|BTO:0004150|EMAPA:17396|MA:0003155 hp.json thoracic spine|thoracic vertebral column|thoracic vertebrae series|columna vertebralis thoracicus|axial skeleton thoracic region http://purl.obolibrary.org/obo/UBERON_0006073 pheno_slim GO:0051046 biolink:BiologicalProcess regulation of secretion Any process that modulates the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. hp.json http://purl.obolibrary.org/obo/GO_0051046 GO:0051059 biolink:MolecularActivity NF-kappaB binding Binding to NF-kappaB, a transcription factor for eukaryotic RNA polymerase II promoters. hp.json http://purl.obolibrary.org/obo/GO_0051059 UBERON:0006061 biolink:AnatomicalEntity process of vertebra A process projection from a part of the vertebra such as centrum or arches. Examples: transverse process, diapophyses, parapophyses, and zygapophyses (both the cranial zygapophyses and the caudal zygapophyses). NCIT:C116112|AAO:0000739|FMA:24530 hp.json vertebral process|spinous process|vertebra process http://purl.obolibrary.org/obo/UBERON_0006061 UBERON:0006068 biolink:AnatomicalEntity bone of tail A bone that is part of a post-anal tail. EMAPA:18042|MA:0000696 hp.json tail bone|tail vertebra http://purl.obolibrary.org/obo/UBERON_0006068 pheno_slim UBERON:0006067 biolink:AnatomicalEntity musculature of hindlimb zeugopod Any collection of muscles that is part of a hindlimb zeugopod. FMA:50211 hp.json set of muscles of leg|muscle group of leg|leg musculature http://purl.obolibrary.org/obo/UBERON_0006067 pheno_slim UBERON:0006063 biolink:AnatomicalEntity cartilaginous neural arch One of the cartilaginous structures surrounding the embryonic spinal cord, formed by the dorsal growth of the dorsolateral arcualia; it is the primordium of the vertebral arch. BTO:0001763 hp.json neural arch primordium http://purl.obolibrary.org/obo/UBERON_0006063 UBERON:0006062 biolink:AnatomicalEntity zygapophysis Paired processes at the cephalic and caudal ends of the neural arch. They function as interlocking structures between adjacent vertebrae, and limit dorsoventral flexion and lateral movement of the column in the trunk region[AAO]. The articular processes or zygapophyses of a vertebra, in human anatomy contain two superior and two inferior, spring from the junctions of the pedicles and laminae. These stick out of an end of a vertebra to lock with a zygapophysis on the next vertebra, to make the backbone more stable. The superior processes project upward from a lower vertebra, and their articular surfaces are directed more or less backward. The inferior processes project downward from a higher vertebra, and their articular surfaces are directed more or less forward and outward. The articular surfaces are coated with hyaline cartilage. FMA:11952|ZFA:0001603|TAO:0001549|AAO:0000710 hp.json articular process of vertebra|articular process|zygapophysis|p. articularis vertebrae|processus articularis vertebrae|processus articularis (zygapophysis)|intercalarium articulating process http://purl.obolibrary.org/obo/UBERON_0006062 vertebrate_core GO:0051052 biolink:BiologicalProcess regulation of DNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving DNA. hp.json regulation of DNA metabolism http://purl.obolibrary.org/obo/GO_0051052 goslim_yeast GO:0051053 biolink:BiologicalProcess negative regulation of DNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving DNA. hp.json down regulation of DNA metabolic process|inhibition of DNA metabolic process|downregulation of DNA metabolic process|negative regulation of DNA metabolism|down-regulation of DNA metabolic process http://purl.obolibrary.org/obo/GO_0051053 GO:0051050 biolink:BiologicalProcess positive regulation of transport Any process that activates or increases the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json up-regulation of transport|up regulation of transport|activation of transport|stimulation of transport|upregulation of transport http://purl.obolibrary.org/obo/GO_0051050 GO:0051051 biolink:BiologicalProcess negative regulation of transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json down regulation of transport|inhibition of transport|downregulation of transport|down-regulation of transport http://purl.obolibrary.org/obo/GO_0051051 GO:0051054 biolink:BiologicalProcess positive regulation of DNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving DNA. hp.json up-regulation of DNA metabolic process|up regulation of DNA metabolic process|activation of DNA metabolic process|stimulation of DNA metabolic process|upregulation of DNA metabolic process|positive regulation of DNA metabolism http://purl.obolibrary.org/obo/GO_0051054 GO:0051055 biolink:BiologicalProcess negative regulation of lipid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. hp.json negative regulation of lipid anabolism|negative regulation of lipogenesis|negative regulation of lipid synthesis|downregulation of lipid biosynthetic process|negative regulation of lipid formation|down regulation of lipid biosynthetic process|inhibition of lipid biosynthetic process|down-regulation of lipid biosynthetic process|negative regulation of lipid biosynthesis http://purl.obolibrary.org/obo/GO_0051055 UBERON:0006050 biolink:AnatomicalEntity digit 3 A digit that is part of a digit 3 plus metapodial segment. EMAPA:37287 hp.json autopod digit 3|third digit|digit III|limb digit 3 http://purl.obolibrary.org/obo/UBERON_0006050 UBERON:0006058 biolink:AnatomicalEntity multi-limb segment region A collection of two or more connected limb segments. Examples: arm (comprising stylopod and zeugopod regions). hp.json http://purl.obolibrary.org/obo/UBERON_0006058 non_informative UBERON:0006056 biolink:AnatomicalEntity posterior surface of head hp.json http://purl.obolibrary.org/obo/UBERON_0006056 UBERON:0006052 biolink:AnatomicalEntity digit 5 A digit that is part of a digit 5 plus metapodial segment. EMAPA:37289|EMAPA:17441 hp.json autopod digit 5|limb digit 5|fifth digit|digiti minimi|digit V http://purl.obolibrary.org/obo/UBERON_0006052 UBERON:0006051 biolink:AnatomicalEntity digit 4 A digit that is part of a digit 4 plus metapodial segment. EMAPA:37288 hp.json fourth digit|autopod digit 4|limb digit 4|digit IV http://purl.obolibrary.org/obo/UBERON_0006051 UBERON:0006059 biolink:AnatomicalEntity falx cerebri The falx cerebri, also known as the cerebral falx, so named from its sickle-like form, is a strong, arched fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. It is narrow in front, where it is attached to the crista galli of the ethmoid; and broad behind, where it is connected with the upper surface of the tentorium cerebelli. Its upper margin is convex, and attached to the inner surface of the skull in the middle line, as far back as the internal occipital protuberance; it contains the superior sagittal sinus. Its lower margin is free and concave, and contains the inferior sagittal sinus. The falx cerebri is known to calcify with age. EMAPA:18551|NCIT:C12890|UMLS:C0228120|FMA:83967 hp.json cerebral falx http://purl.obolibrary.org/obo/UBERON_0006059 pheno_slim HP:0025376 biolink:PhenotypicFeature Hyperglutaminuria An increased concentration of glutamine in the urine. hp.json Glutaminuria http://purl.obolibrary.org/obo/HP_0025376 HP:0025377 biolink:PhenotypicFeature Triggered by exertion Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise. hp.json Exertion triggered symptoms|Triggered by physical exercise http://purl.obolibrary.org/obo/HP_0025377 HP:0025379 biolink:PhenotypicFeature Anti-thyroid peroxidase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. hp.json Anti-TPO antibody positivity|TPOAbs http://purl.obolibrary.org/obo/HP_0025379 GO:0016620 biolink:MolecularActivity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP. EC:1.2.1.-|Reactome:R-HSA-1222583 hp.json http://purl.obolibrary.org/obo/GO_0016620 HP:0025370 biolink:PhenotypicFeature Abnormal ossification of the sacrum Abnormal bone tissue formation (ossification) affecting the sacrum. hp.json http://purl.obolibrary.org/obo/HP_0025370 HP:0025371 biolink:PhenotypicFeature Delayed ossification of the sacrum Formation of the sacrum bone tissue occurs later than age-adjusted norms. hp.json http://purl.obolibrary.org/obo/HP_0025371 HP:0025372 biolink:PhenotypicFeature Loud snoring Particularly loud snoring, snoring at high volume. hp.json Have loud snoring|Has loud snoring|Heavy snoring|Snores loudly http://purl.obolibrary.org/obo/HP_0025372 HP:0025373 biolink:PhenotypicFeature Interictal EEG abnormality Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. hp.json http://purl.obolibrary.org/obo/HP_0025373 HP:0025374 biolink:PhenotypicFeature Duplicated odontoid process The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates. hp.json http://purl.obolibrary.org/obo/HP_0025374 HP:0025375 biolink:PhenotypicFeature Orthotopic os odontoideum Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus. hp.json http://purl.obolibrary.org/obo/HP_0025375 GO:0004658 biolink:MolecularActivity propionyl-CoA carboxylase activity Catalysis of the reaction: ATP + propanoyl-CoA + HCO3- = ADP + phosphate + (S)-methylmalonyl-CoA. MetaCyc:PROPIONYL-COA-CARBOXY-RXN|RHEA:23720|Reactome:R-HSA-71031|EC:6.4.1.3 hp.json propionyl coenzyme A carboxylase activity|propanoyl-CoA:carbon-dioxide ligase (ADP-forming)|PCCase activity http://purl.obolibrary.org/obo/GO_0004658 HP:0025367 biolink:PhenotypicFeature Trichoepithelioma A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age. hp.json http://purl.obolibrary.org/obo/HP_0025367 HP:0025368 biolink:PhenotypicFeature Abnormal growth plate morphology A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone). hp.json Abnormality of growth plate morphology http://purl.obolibrary.org/obo/HP_0025368 HP:0025369 biolink:PhenotypicFeature Thick growth plates Increased thickness (dimension along the axis of the bone) of the growth plate. hp.json http://purl.obolibrary.org/obo/HP_0025369 HP:0025360 biolink:PhenotypicFeature Polycalycosis Increased number of calices of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0025360 HP:0025361 biolink:PhenotypicFeature Abnormality of medullary pyramid morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. hp.json http://purl.obolibrary.org/obo/HP_0025361 HP:0025362 biolink:PhenotypicFeature Renal medullary pyramid hypoplasia Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. hp.json Hypoplasia of the medullary pyramids http://purl.obolibrary.org/obo/HP_0025362 HP:0025363 biolink:PhenotypicFeature Glomerular endocapillary hypercellularity Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. hp.json Endocapillary hypercellularity http://purl.obolibrary.org/obo/HP_0025363 HP:0025364 biolink:PhenotypicFeature Glomerular extracapillary hypercellularity Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. hp.json Extracapillary glomerular hypercellularity|Extracapillary hypercellularity http://purl.obolibrary.org/obo/HP_0025364 GO:2000248 biolink:BiologicalProcess negative regulation of establishment or maintenance of neuroblast polarity Any process that stops, prevents, or reduces the frequency, rate or extent of establishment or maintenance of neuroblast polarity. hp.json negative regulation of establishment and/or maintenance of neuroblast cell polarity http://purl.obolibrary.org/obo/GO_2000248 HP:0001387 biolink:PhenotypicFeature Joint stiffness Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. SNOMEDCT_US:84445001|UMLS:C0162298 hp.json Joint stiffness|Stiff joint|Stiff joints http://purl.obolibrary.org/obo/HP_0001387 HP:0025354 biolink:PhenotypicFeature Abnormal cellular phenotype An anomaly of cellular morphology or physiology. hp.json http://purl.obolibrary.org/obo/HP_0025354 HP:0025355 biolink:PhenotypicFeature Retinal arterial macroaneurysms Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative. hp.json http://purl.obolibrary.org/obo/HP_0025355 HP:0001388 biolink:PhenotypicFeature Joint laxity Lack of stability of a joint. SNOMEDCT_US:27911000|UMLS:C0086437|SNOMEDCT_US:298203008|UMLS:C0158359|MSH:D007593 hp.json Ligamentous laxity|Lax joints|Joint instability|Joint ligamentous laxity|Loosejointedness|Loose-jointedness|Hyperlaxity http://purl.obolibrary.org/obo/HP_0001388 GO:2000241 biolink:BiologicalProcess regulation of reproductive process Any process that modulates the frequency, rate or extent of reproductive process. hp.json http://purl.obolibrary.org/obo/GO_2000241 HP:0001385 biolink:PhenotypicFeature Hip dysplasia The presence of developmental dysplasia of the hip. SNOMEDCT_US:48334007|SNOMEDCT_US:52781008|UMLS:C0019555|MSH:D006618 hp.json Abnormal formation of the hip|Congenital hip dysplasia http://purl.obolibrary.org/obo/HP_0001385 HP:0025356 biolink:PhenotypicFeature obsolete Psychomotor retardation hp.json http://purl.obolibrary.org/obo/HP_0025356 GO:2000242 biolink:BiologicalProcess negative regulation of reproductive process Any process that stops, prevents, or reduces the frequency, rate or extent of reproductive process. hp.json http://purl.obolibrary.org/obo/GO_2000242 HP:0001386 biolink:PhenotypicFeature Joint swelling SNOMEDCT_US:271771009|UMLS:C0152031 hp.json Joint swelling http://purl.obolibrary.org/obo/HP_0001386 HP:0025357 biolink:PhenotypicFeature Erratic myoclonus A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. hp.json Fragmentary myoclonus http://purl.obolibrary.org/obo/HP_0025357 HP:0025358 biolink:PhenotypicFeature Uveal ectropion Presence of iris pigment epithelium on the anterior surface of the iris. hp.json Ectropion uveae http://purl.obolibrary.org/obo/HP_0025358 GO:2000243 biolink:BiologicalProcess positive regulation of reproductive process Any process that activates or increases the frequency, rate or extent of reproductive process. hp.json http://purl.obolibrary.org/obo/GO_2000243 HP:0025359 biolink:PhenotypicFeature Polygonal renal calices An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). hp.json Polygonal-shaped calices|Polygonal calices http://purl.obolibrary.org/obo/HP_0025359 HP:0001380 biolink:PhenotypicFeature obsolete Ligamentous laxity hp.json http://purl.obolibrary.org/obo/HP_0001380 HP:0025350 biolink:PhenotypicFeature Giant conjunctival papillae Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein. hp.json http://purl.obolibrary.org/obo/HP_0025350 HP:0001384 biolink:PhenotypicFeature Abnormal hip joint morphology An abnormality of the hip joint. UMLS:C4020870 hp.json Abnormality of the hip joint|Abnormality of the hip joints http://purl.obolibrary.org/obo/HP_0001384 HP:0025351 biolink:PhenotypicFeature Recurrent interdigital mycosis A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers. hp.json Recurrent interdigital tinea http://purl.obolibrary.org/obo/HP_0025351 HP:0025352 biolink:PhenotypicFeature Typically de novo Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals. hp.json Autosomal dominant germline de novo mutation http://purl.obolibrary.org/obo/HP_0025352 HP:0025353 biolink:PhenotypicFeature Anti-multiple nuclear dots antibody positivity A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells. hp.json Anti-MND antibodies http://purl.obolibrary.org/obo/HP_0025353 HP:0001382 biolink:PhenotypicFeature Joint hypermobility The ability of a joint to move beyond its normal range of motion. UMLS:C1844820|SNOMEDCT_US:298181000 hp.json Increased joint mobility|Extensible joints|Flexible joints|Double-Jointed|Joint hyperextensibility|Increased mobility of joints|Hyperextensible joints http://purl.obolibrary.org/obo/HP_0001382 GO:0004634 biolink:MolecularActivity phosphopyruvate hydratase activity Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O. EC:4.2.1.11|Reactome:R-HSA-71660|RHEA:10164|MetaCyc:2PGADEHYDRAT-RXN|Reactome:R-HSA-70494 hp.json 2-phosphoglyceric dehydratase activity|2-phosphoglycerate dehydratase activity|gamma-enolase activity|2-phospho-D-glycerate-hydrolase activity|2-phospho-D-glycerate hydro-lyase activity|phosphoenolpyruvate hydratase activity|14-3-2-protein|enolase activity|2-phospho-D-glycerate hydro-lyase (phosphoenolpyruvate-forming)|nervous-system specific enolase|2-phosphoglycerate enolase activity http://purl.obolibrary.org/obo/GO_0004634 GO:2000258 biolink:BiologicalProcess negative regulation of protein activation cascade Any process that stops, prevents or reduces the frequency, rate or extent of protein activation cascade. hp.json negative regulation of protein activation pathway|negative regulation of protein activitory cascade http://purl.obolibrary.org/obo/GO_2000258 GO:2000259 biolink:BiologicalProcess positive regulation of protein activation cascade Any process that activates or increases the frequency, rate or extent of protein activation cascade. hp.json positive regulation of protein activitory cascade|positive regulation of protein activation pathway http://purl.obolibrary.org/obo/GO_2000259 HP:0025343 biolink:PhenotypicFeature Lupus anticoagulant Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. hp.json http://purl.obolibrary.org/obo/HP_0025343 GO:0016614 biolink:MolecularActivity oxidoreductase activity, acting on CH-OH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. EC:1.1.-.-|Reactome:R-HSA-1500781 hp.json oxidoreductase activity, acting on the CH-OH group of donors, other acceptors http://purl.obolibrary.org/obo/GO_0016614 HP:0001399 biolink:PhenotypicFeature Hepatic failure MSH:D017093|SNOMEDCT_US:59927004|UMLS:C0085605 hp.json Liver failure http://purl.obolibrary.org/obo/HP_0001399 HP:0025344 biolink:PhenotypicFeature Interlobular bile duct destruction Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). hp.json http://purl.obolibrary.org/obo/HP_0025344 GO:2000252 biolink:BiologicalProcess negative regulation of feeding behavior Any process that stops, prevents or reduces the frequency, rate or extent of feeding behavior. hp.json negative regulation of drinking|negative regulation of eating|negative regulation of feeding behaviour|negative regulation of behavioural response to food|negative regulation of behavioral response to food http://purl.obolibrary.org/obo/GO_2000252 HP:0025345 biolink:PhenotypicFeature Abnormality of circulating beta-2-microglobulin level A deviation from the normal concentration of beta-2-microglobulin in the blood. hp.json Abnormality of circulating beta2-m level|Abnormality of circulating beta2 microglobulin level|Abnormality of circulating B2M level|Abnormality of circulating beta2m level http://purl.obolibrary.org/obo/HP_0025345 HP:0001396 biolink:PhenotypicFeature Cholestasis Impairment of bile flow due to obstruction in bile ducts. UMLS:C0008370|SNOMEDCT_US:197446008|SNOMEDCT_US:33688009|MSH:D002779|SNOMEDCT_US:30144000 hp.json Slowed or blocked flow of bile from liver http://purl.obolibrary.org/obo/HP_0001396 GO:0016616 biolink:MolecularActivity oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP. Reactome:R-HSA-975629|EC:1.1.1.- hp.json glycolate reductase|NADH-dependent glyoxylate reductase|glyoxylic acid reductase http://purl.obolibrary.org/obo/GO_0016616 GO:2000253 biolink:BiologicalProcess positive regulation of feeding behavior Any process that activates or increases the frequency, rate or extent of feeding behavior. hp.json positive regulation of feeding behaviour|positive regulation of behavioural response to food|positive regulation of eating|positive regulation of drinking|positive regulation of behavioral response to food http://purl.obolibrary.org/obo/GO_2000253 HP:0025346 biolink:PhenotypicFeature Increased circulating beta-2-microglobulin level Elevated concentration of beta-2-microglobulin in the blood. hp.json Elevated circulating beta-2-microglobulin level http://purl.obolibrary.org/obo/HP_0025346 HP:0001397 biolink:PhenotypicFeature Hepatic steatosis Steatosis is a term used to denote lipid accumulation within hepatocytes. SNOMEDCT_US:197321007|MSH:D005234|UMLS:C2711227|SNOMEDCT_US:442191002 hp.json Fatty infiltration of liver|Liver steatosis|Fatty liver|Steatosis http://purl.obolibrary.org/obo/HP_0001397 UBERON:0008713 biolink:AnatomicalEntity pectoral girdle and thoracic body wall skeletal muscle EHDAA2:0001421|EMAPA:17748|RETIRED_EHDAA2:0001422 hp.json http://purl.obolibrary.org/obo/UBERON_0008713 HP:0025347 biolink:PhenotypicFeature Decreased circulating beta-2-microglobulin level Reduced concentration of beta-2-microglobulin in the blood. hp.json Reduced circulating beta-2-microglobulin level http://purl.obolibrary.org/obo/HP_0025347 HP:0025348 biolink:PhenotypicFeature Abnormal corneal limbus morphology An anomaly of the margin of the cornea overlapped by the sclera. hp.json Abnormality of the corneal limbus http://purl.obolibrary.org/obo/HP_0025348 UBERON:0008715 biolink:AnatomicalEntity muscle tissue of prostate A muscle tissue that is part of a prostate gland. UMLS:C1183911|NCIT:C13100 hp.json prostatic musclular tissue|prostate gland muscle tissue|prostate muscle tissue|prostatic muscle http://purl.obolibrary.org/obo/UBERON_0008715 HP:0025349 biolink:PhenotypicFeature Limbal edema Swelling of the margin of the cornea overlapped by the sclera. hp.json Limbal oedema http://purl.obolibrary.org/obo/HP_0025349 GO:2000257 biolink:BiologicalProcess regulation of protein activation cascade Any process that modulates the frequency, rate or extent of protein activation cascade. hp.json regulation of protein activation pathway|regulation of protein activitory cascade http://purl.obolibrary.org/obo/GO_2000257 HP:0001394 biolink:PhenotypicFeature Cirrhosis A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. SNOMEDCT_US:19943007|MSH:D008103|UMLS:C0023890 hp.json Hepatic cirrhosis|Scar tissue replaces healthy tissue in the liver|Liver cirrhosis http://purl.obolibrary.org/obo/HP_0001394 HP:0001395 biolink:PhenotypicFeature Hepatic fibrosis The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. UMLS:C0239946|MSH:D008103|SNOMEDCT_US:62484002 hp.json Liver fibrosis http://purl.obolibrary.org/obo/HP_0001395 HP:0025340 biolink:PhenotypicFeature Deep episcleral hyperemia Prominence of blood vessels of the deep episcleral tissues. hp.json Deep episcleral hyperaemia http://purl.obolibrary.org/obo/HP_0025340 HP:0025341 biolink:PhenotypicFeature Corneal keratic precipitates An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea. hp.json http://purl.obolibrary.org/obo/HP_0025341 HP:0001392 biolink:PhenotypicFeature Abnormality of the liver An abnormality of the liver. UMLS:C4021780|MSH:D008107|UMLS:C0023895|SNOMEDCT_US:235856003 hp.json Abnormality of the liver|Abnormal liver|Liver disease|Liver abnormality http://purl.obolibrary.org/obo/HP_0001392 HP:0025342 biolink:PhenotypicFeature Central retinal artery occlusion Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss. hp.json http://purl.obolibrary.org/obo/HP_0025342 UBERON:0018102 biolink:AnatomicalEntity distal mesopodial bone A distal mesopodial endochondral element that is composed primarily of a bone tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0018102 UBERON:0018100 biolink:AnatomicalEntity distal mesopodial cartilage element A distal mesopodial endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0018100 RO:0011002 biolink:NamedThing regulates activity of The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B. hp.json http://purl.obolibrary.org/obo/RO_0011002 UBERON:0018101 biolink:AnatomicalEntity distal mesopodial pre-cartilage condensation A distal mesopodial endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0018101 UBERON:0008788 biolink:AnatomicalEntity posterior cranial fossa The infratentorial compartment that contains the CEREBELLUM and BRAIN STEM. It is formed by the posterior third of the superior surface of the body of the sphenoid (SPHENOID BONE), by the occipital, the petrous, and mastoid portions of the TEMPORAL BONE, and the posterior inferior angle of the PARIETAL BONE. GAID:85|CALOHA:TS-2354|MESH:D003388|UMLS:C0010265|FMA:54368|NCIT:C33361 hp.json posterior fossa|fossa cranii posterior http://purl.obolibrary.org/obo/UBERON_0008788 pheno_slim UBERON:0008789 biolink:AnatomicalEntity cranial fossa Any of the three large depressions in the posterior, middle, and anterior aspects of the floor of the cranial cavity. FMA:321144 hp.json http://purl.obolibrary.org/obo/UBERON_0008789 UBERON:0008780 biolink:AnatomicalEntity inner cell mass derived epiblast An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers. EHDAA2:0000444|EHDAA:75|EHDAA:42|EMAPA:16050|NCIT:C34164|UMLS:C1516906 hp.json embryonic epiblast http://purl.obolibrary.org/obo/UBERON_0008780 pheno_slim|early_development UBERON:0008783 biolink:AnatomicalEntity dorsal venous arch The dorsal venous arch of the foot is a superficial vein that connects the small saphenous vein and the great saphenous vein. Anatomically, it is defined by where the dorsal veins of the first and fifth digit, respectively, meet the great saphenous vein and small saphenous vein. MA:0002110|EMAPA:37521|FMA:44356 hp.json arcus venosus dorsalis pedis|arcus venosus dorsalis pedis|dorsal venous arch of foot http://purl.obolibrary.org/obo/UBERON_0008783 UBERON:0008784 biolink:AnatomicalEntity lower limb segment A limb segment that is part of a hindlimb. FMA:24877 hp.json free lower limb subdivision|subdivision of free lower limb|segment of free lower limb|free lower limb segment http://purl.obolibrary.org/obo/UBERON_0008784 UBERON:0006127 biolink:AnatomicalEntity funiculus of spinal cord A funiculus of neuraxis that is part of a spinal cord. FMA:77460 hp.json spinal cord funiculus|white column of spinal cord http://purl.obolibrary.org/obo/UBERON_0006127 UBERON:0008785 biolink:AnatomicalEntity upper limb segment A limb segment that is part of a forelimb. FMA:24876 hp.json free upper limb subdivision|subdivision of free upper limb|segment of free upper limb|free upper limb segment http://purl.obolibrary.org/obo/UBERON_0008785 UBERON:0008777 biolink:AnatomicalEntity hypaxial musculature Musculature that is derived from the hypaxial myotome region, trunk muscles that lie ventral to the horizontal septum of the vertebrae. Hypaxial muscles include some vertebral muscles, the diaphragm, the abdominal muscles, and all limb muscles. XAO:0003228|AAO:0000228|EMAPA:37852 hp.json hypaxial muscle|hypaxial muscles http://purl.obolibrary.org/obo/UBERON_0008777 UBERON:0008778 biolink:AnatomicalEntity epaxial musculature Musculature that is derived from the epaxial myotome region, ventral to the horizontal septum of the vertebrae. Epaxial muscles include other (dorsal) muscles associated with the vertebrae, ribs, and base of the skull. AAO:0000142|XAO:0003229|EMAPA:37851 hp.json epaxial muscles|epaxial muscle http://purl.obolibrary.org/obo/UBERON_0008778 pheno_slim UBERON:0008772 biolink:AnatomicalEntity proximal epiphysis of tibia A proximal epiphysis that is part of a tibia. NCIT:C32722|UMLS:C0932431|FMA:33113 hp.json upper end of tibia|head of tibia|proximal tibial epiphysis|proximal end of tibia http://purl.obolibrary.org/obo/UBERON_0008772 pheno_slim GO:0004619 biolink:MolecularActivity phosphoglycerate mutase activity Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate. EC:5.4.2.1|Reactome:R-HSA-71445|Reactome:R-HSA-71654|MetaCyc:3PGAREARR-RXN|RHEA:15901 hp.json monophosphoglycerate mutase activity|PGA mutase activity|phosphoglycerate phosphomutase activity|diphosphoglycomutase|phosphoglyceromutase activity|GriP mutase|PGM|monophosphoglyceromutase activity|D-phosphoglycerate 2,3-phosphomutase activity|PGAM activity|bisphosphoglyceromutase|MPGM http://purl.obolibrary.org/obo/GO_0004619 UBERON:0008775 biolink:AnatomicalEntity proximal epiphysis of fibula A proximal epiphysis that is part of a fibula. EMAPA:37890|galen:HeadOfFibula|UMLS:C0223908|FMA:33729|NCIT:C32719 hp.json upper end of fibula|caput fibulae|proximal end of fibula|head of fibula|fibular head http://purl.obolibrary.org/obo/UBERON_0008775 pheno_slim GO:0004618 biolink:MolecularActivity phosphoglycerate kinase activity Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+). Reactome:R-HSA-70486|EC:2.7.2.3|Reactome:R-HSA-71850|KEGG_REACTION:R01512|RHEA:14801|MetaCyc:PHOSGLYPHOS-RXN hp.json phosphoglyceric acid kinase activity|glycerophosphate kinase activity|glycerate 3-phosphate kinase activity|phosphoglycerokinase activity|PGK|3-phosphoglyceric kinase activity|3-phosphoglyceric acid kinase activity|3-phosphoglycerate kinase activity|ATP:D-3-phosphoglycerate 1-phosphotransferase activity|phosphoglyceric kinase activity|3-phosphoglycerate phosphokinase activity|3-phosphoglyceric acid phosphokinase activity|3-PGK|ATP-3-phospho-D-glycerate-1-phosphotransferase activity|ATP:3-phospho-D-glycerate 1-phosphotransferase activity http://purl.obolibrary.org/obo/GO_0004618 CL:4030000 biolink:Cell choroidal melanocyte A melanocyte located in the vascular uvea and involved in photoprotection, regulation of oxidative damage and immune responses. hp.json uveal melanocyte http://purl.obolibrary.org/obo/CL_4030000 CL:4030002 biolink:Cell effector memory CD45RA-positive, alpha-beta T cell, terminally differentiated An alpha-beta memory T cell with the phenotype CD45RA-positive. hp.json TEMRA cell|terminally differentiated effector memory CD45RA+ T cells|terminally differentiated effector memory cells re-expressing CD45RA|effector memory RA T cell|TEMRA http://purl.obolibrary.org/obo/CL_4030002 HP:0025398 biolink:PhenotypicFeature Nodular-perilymphatic pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution. hp.json http://purl.obolibrary.org/obo/HP_0025398 HP:0025399 biolink:PhenotypicFeature Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree. hp.json http://purl.obolibrary.org/obo/HP_0025399 HP:0025390 biolink:PhenotypicFeature Reticular pattern on pulmonary HRCT On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. hp.json http://purl.obolibrary.org/obo/HP_0025390 HP:0025391 biolink:PhenotypicFeature Crazy paving pattern The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia. hp.json Crazy-paving pattern|Crazy paving pattern on pulmonary HRCT http://purl.obolibrary.org/obo/HP_0025391 HP:0025392 biolink:PhenotypicFeature Nodular pattern on pulmonary HRCT A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. hp.json http://purl.obolibrary.org/obo/HP_0025392 HP:0025393 biolink:PhenotypicFeature Reticulonodular pattern on pulmonary HRCT Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. hp.json http://purl.obolibrary.org/obo/HP_0025393 HP:0025394 biolink:PhenotypicFeature Cystic pattern on pulmonary HRCT On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. hp.json http://purl.obolibrary.org/obo/HP_0025394 HP:0025395 biolink:PhenotypicFeature Combined cystic and ground-glass pattern on pulmonary HRCT Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, hp.json http://purl.obolibrary.org/obo/HP_0025395 HP:0025396 biolink:PhenotypicFeature Decreased attenuation pattern on pulmonary HRCT Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography. hp.json Black lung pattern on pulmonary HRCT http://purl.obolibrary.org/obo/HP_0025396 HP:0025397 biolink:PhenotypicFeature Mosaic attenuation pattern on pulmonary HRCT A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography. hp.json http://purl.obolibrary.org/obo/HP_0025397 GO:2000214 biolink:BiologicalProcess regulation of proline metabolic process Any process that modulates the frequency, rate or extent of proline metabolic process. hp.json regulation of proline metabolism http://purl.obolibrary.org/obo/GO_2000214 GO:2000215 biolink:BiologicalProcess negative regulation of proline metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process. hp.json negative regulation of proline metabolism http://purl.obolibrary.org/obo/GO_2000215 GO:2000216 biolink:BiologicalProcess positive regulation of proline metabolic process Any process that activates or increases the frequency, rate or extent of proline metabolic process. hp.json positive regulation of proline metabolism http://purl.obolibrary.org/obo/GO_2000216 HP:0025387 biolink:PhenotypicFeature Pill-rolling tremor A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. hp.json Pill rolling http://purl.obolibrary.org/obo/HP_0025387 HP:0025388 biolink:PhenotypicFeature Thyroid nodule A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland. hp.json http://purl.obolibrary.org/obo/HP_0025388 HP:0025389 biolink:PhenotypicFeature Pulmonary interstitial high-resolution computed tomography abnormality High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. hp.json Pulmonary interstitiatial HRCT abnormality http://purl.obolibrary.org/obo/HP_0025389 GO:2000211 biolink:BiologicalProcess regulation of glutamate metabolic process Any process that modulates the frequency, rate or extent of glutamate metabolic process. hp.json regulation of glutamate metabolism|regulation of glutamic acid metabolism|regulation of glutamic acid metabolic process http://purl.obolibrary.org/obo/GO_2000211 PR:000029968 biolink:Protein somatotropin hormone family member A protein that is a standalone version of the Hormone_1 domain (Pfam:PF00103). In the immature form, the domain is preceded by a signal peptide. hp.json fam:GH1 http://purl.obolibrary.org/obo/PR_000029968 GO:2000212 biolink:BiologicalProcess negative regulation of glutamate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of glutamate metabolic process. hp.json negative regulation of glutamic acid metabolic process|negative regulation of glutamate metabolism|negative regulation of glutamic acid metabolism http://purl.obolibrary.org/obo/GO_2000212 GO:2000213 biolink:BiologicalProcess positive regulation of glutamate metabolic process Any process that activates or increases the frequency, rate or extent of glutamate metabolic process. hp.json positive regulation of glutamic acid metabolic process|positive regulation of glutamate metabolism|positive regulation of glutamic acid metabolism http://purl.obolibrary.org/obo/GO_2000213 HP:0025380 biolink:PhenotypicFeature Increased circulating androstenedione concentration Increased concentration of androstenedione in the blood circulation. hp.json Increased serum androstenedione http://purl.obolibrary.org/obo/HP_0025380 HP:0025381 biolink:PhenotypicFeature Anti-pituitary antibody positivity Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function. hp.json http://purl.obolibrary.org/obo/HP_0025381 HP:0025382 biolink:PhenotypicFeature Hypodipsia Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake. hp.json http://purl.obolibrary.org/obo/HP_0025382 HP:0025383 biolink:PhenotypicFeature Dorsocervical fat pad An area of fat accumulation at the back of the neck in the form of a hump. hp.json Buffalo hump http://purl.obolibrary.org/obo/HP_0025383 HP:0025384 biolink:PhenotypicFeature Diet-resistant subcutaneous adipose tissue Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. hp.json http://purl.obolibrary.org/obo/HP_0025384 HP:0025385 biolink:PhenotypicFeature Diet-resistant subcutaneous adipose tissue below waist Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. hp.json http://purl.obolibrary.org/obo/HP_0025385 HP:0025386 biolink:PhenotypicFeature Bitemporal hollowing Depression of profile in both temporal regions. hp.json http://purl.obolibrary.org/obo/HP_0025386 GO:0002067 biolink:BiologicalProcess glandular epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a glandular epithelial cell. A glandular epithelial cell is a columnar/cuboidal epithelial cell found in a two dimensional sheet with a free surface exposed to the lumen of a gland. hp.json http://purl.obolibrary.org/obo/GO_0002067 GO:0002068 biolink:BiologicalProcess glandular epithelial cell development The process whose specific outcome is the progression of a glandular epithelial cell over time, from its formation to the mature structure. A glandular epithelial cell is a columnar/cuboidal epithelial cell is a cell found in a two dimensional sheet with a free surface exposed to the lumen of a gland. hp.json http://purl.obolibrary.org/obo/GO_0002068 GO:0002069 biolink:BiologicalProcess columnar/cuboidal epithelial cell maturation The developmental process, independent of morphogenetic (shape) change, that is required for a columna/cuboidal epithelial cell to attain its fully functional state. A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. hp.json http://purl.obolibrary.org/obo/GO_0002069 GO:0002063 biolink:BiologicalProcess chondrocyte development The process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate. hp.json http://purl.obolibrary.org/obo/GO_0002063 GO:0002064 biolink:BiologicalProcess epithelial cell development The process whose specific outcome is the progression of an epithelial cell over time, from its formation to the mature structure. An epithelial cell is a cell usually found in a two-dimensional sheet with a free surface. hp.json http://purl.obolibrary.org/obo/GO_0002064 HP:0001327 biolink:PhenotypicFeature Photosensitive myoclonic seizure Generalised myoclonic seizure provoked by flashing or flickering light. UMLS:C4025791 hp.json Photomyoclonic seizures|Photomyoclonic seizure|Photically induced myoclonic seizure http://purl.obolibrary.org/obo/HP_0001327 GO:0002065 biolink:BiologicalProcess columnar/cuboidal epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a columnar/cuboidal epithelial cell. A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. hp.json http://purl.obolibrary.org/obo/GO_0002065 HP:0001328 biolink:PhenotypicFeature Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. UMLS:C4025790 hp.json http://purl.obolibrary.org/obo/HP_0001328 HP:0003989 biolink:PhenotypicFeature Notched ulna UMLS:C4025462 hp.json http://purl.obolibrary.org/obo/HP_0003989 GO:0002066 biolink:BiologicalProcess columnar/cuboidal epithelial cell development The process whose specific outcome is the progression of a columnar/cuboidal epithelial cell over time, from its formation to the mature structure. A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. hp.json http://purl.obolibrary.org/obo/GO_0002066 GO:0002062 biolink:BiologicalProcess chondrocyte differentiation The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage. hp.json http://purl.obolibrary.org/obo/GO_0002062 GO:0014049 biolink:BiologicalProcess positive regulation of glutamate secretion Any process that activates or increases the frequency, rate or extent of the controlled release of glutamate. hp.json upregulation of glutamate secretion|up-regulation of glutamate secretion|up regulation of glutamate secretion|activation of glutamate secretion|stimulation of glutamate secretion http://purl.obolibrary.org/obo/GO_0014049 HP:0001321 biolink:PhenotypicFeature Cerebellar hypoplasia Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. UMLS:C0266470|MSH:C562568|SNOMEDCT_US:16026008 hp.json Underdeveloped cerebellum|Small cerebellum|Congenital cerebellar hypoplasia|Hypoplastic cerebellum|Hypoplasia of cerebellum http://purl.obolibrary.org/obo/HP_0001321 HP:0003984 biolink:PhenotypicFeature Posteriorly dislocated ulna UMLS:C4025465 hp.json http://purl.obolibrary.org/obo/HP_0003984 HP:0001322 biolink:PhenotypicFeature obsolete Brain very small hp.json http://purl.obolibrary.org/obo/HP_0001322 GO:0014048 biolink:BiologicalProcess regulation of glutamate secretion Any process that modulates the frequency, rate or extent of the controlled release of glutamate. hp.json http://purl.obolibrary.org/obo/GO_0014048 HP:0003982 biolink:PhenotypicFeature Aplasia of the ulna Missing ulna bone associated with congenital failure of development. UMLS:C2678397 hp.json Absent ossification/absent ulna|Absent ulna|Absent ulnae http://purl.obolibrary.org/obo/HP_0003982 hposlim_core GO:0014047 biolink:BiologicalProcess glutamate secretion The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system. hp.json http://purl.obolibrary.org/obo/GO_0014047 HP:0001320 biolink:PhenotypicFeature Cerebellar vermis hypoplasia Underdevelopment of the vermis of cerebellum. UMLS:C1840379 hp.json Hypoplastic cerebellar vermis|Cerebellar vermal hypoplasia|Hypoplasia of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0001320 GO:0014046 biolink:BiologicalProcess dopamine secretion The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone. hp.json http://purl.obolibrary.org/obo/GO_0014046 HP:0003981 biolink:PhenotypicFeature Broad radius Increased width of the radius. UMLS:C4021698 hp.json Wide radius http://purl.obolibrary.org/obo/HP_0003981 HP:0003988 biolink:PhenotypicFeature Long ulna Increased length of the ulna. UMLS:C1848108 hp.json Disproportionately long ulnae http://purl.obolibrary.org/obo/HP_0003988 hposlim_core HP:0001325 biolink:PhenotypicFeature Hypoglycemic coma UMLS:C0020617|SNOMEDCT_US:267384006 hp.json Hypoglycaemic coma|Coma caused by low blood sugar|Loss of consciousness due to hypoglycemia|Coma, hypoglycemic http://purl.obolibrary.org/obo/HP_0001325 HP:0001326 biolink:PhenotypicFeature EEG with irregular generalized spike and wave complexes EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. UMLS:C4025792 hp.json EEG with irregular generalised spike and wave complexes http://purl.obolibrary.org/obo/HP_0001326 HP:0003987 biolink:PhenotypicFeature Fractured ulna SNOMEDCT_US:54556006|UMLS:C0041601|MSH:D014458 hp.json http://purl.obolibrary.org/obo/HP_0003987 HP:0003986 biolink:PhenotypicFeature Exostoses of the radius UMLS:C4025463 hp.json http://purl.obolibrary.org/obo/HP_0003986 HP:0001324 biolink:PhenotypicFeature Muscle weakness Reduced strength of muscles. SNOMEDCT_US:26544005|MSH:D018908|UMLS:C0151786 hp.json Muscular weakness|Muscle weakness http://purl.obolibrary.org/obo/HP_0001324 HP:0003985 biolink:PhenotypicFeature Exostoses of the ulna UMLS:C4025464 hp.json http://purl.obolibrary.org/obo/HP_0003985 GO:0014041 biolink:BiologicalProcess regulation of neuron maturation Any process that modulates the frequency, rate or extent of neuron maturation, the process leading to the attainment of the full functional capacity of a neuron. This process is independent of morphogenetic change. hp.json http://purl.obolibrary.org/obo/GO_0014041 GO:0014040 biolink:BiologicalProcess positive regulation of Schwann cell differentiation Any process that activates or increases the frequency, rate or extent of Schwann cell differentiation. hp.json upregulation of Schwann cell differentiation|up regulation of Schwann cell differentiation|stimulation of Schwann cell differentiation|up-regulation of Schwann cell differentiation|activation of Schwann cell differentiation http://purl.obolibrary.org/obo/GO_0014040 HP:0003980 biolink:PhenotypicFeature Pseudarthrosis of the radius UMLS:C4025466 hp.json http://purl.obolibrary.org/obo/HP_0003980 GO:0014044 biolink:BiologicalProcess Schwann cell development The process aimed at the progression of a Schwann cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function. hp.json http://purl.obolibrary.org/obo/GO_0014044 GO:0014043 biolink:BiologicalProcess negative regulation of neuron maturation Any process that stops, prevents, or reduces the frequency, rate or extent of neuron maturation. hp.json down-regulation of neuron maturation|down regulation of neuron maturation|inhibition of neuron maturation|downregulation of neuron maturation http://purl.obolibrary.org/obo/GO_0014043 GO:0014042 biolink:BiologicalProcess positive regulation of neuron maturation Any process that activates or increases the frequency, rate or extent of neuron maturation. hp.json stimulation of neuron maturation|upregulation of neuron maturation|up-regulation of neuron maturation|up regulation of neuron maturation|activation of neuron maturation http://purl.obolibrary.org/obo/GO_0014042 HP:0001338 biolink:PhenotypicFeature Partial agenesis of the corpus callosum A partial failure of the development of the corpus callosum. UMLS:C0431368|MSH:C536111|UMLS:C1857278|SNOMEDCT_US:253140003 hp.json Partial-total agenesis of corpus callosum|Partial or complete agenesis of corpus callosum|Corpus callosum agenesis, partial|Partial or complete agenesis of the corpus callosum|Partial corpus callosum agenesis|Partial agenesis of corpus callosum|Partial to complete agenesis of corpus callosum http://purl.obolibrary.org/obo/HP_0001338 HP:0001339 biolink:PhenotypicFeature Lissencephaly A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. UMLS:C0266463|MSH:D054082|SNOMEDCT_US:204036008|UMLS:C1879312 hp.json Fewer or absent grooves in brain http://purl.obolibrary.org/obo/HP_0001339 GO:0002070 biolink:BiologicalProcess epithelial cell maturation The developmental process, independent of morphogenetic (shape) change, that is required for an epithelial cell to attain its fully functional state. An epithelial cell is a cell usually found in a two-dimensional sheet with a free surface. hp.json http://purl.obolibrary.org/obo/GO_0002070 GO:0002071 biolink:BiologicalProcess glandular epithelial cell maturation The developmental process, independent of morphogenetic (shape) change, that is required for a glandular epithelial cell to attain its fully functional state. A glandular epithelial cell is a columnar/cuboidal epithelial cell is a cell found in a two dimensional sheet with a free surface exposed to the lumen of a gland. hp.json http://purl.obolibrary.org/obo/GO_0002071 GO:0002072 biolink:BiologicalProcess optic cup morphogenesis involved in camera-type eye development The invagination of the optic vesicle to form two-walled indentations, the optic cups, that will go on to form the retina. This process begins with the optic vesicle becoming a two-walled structure and its subsequent shape changes. It does not include the fate commitment of cells to become the pigmented retina and the neural retina. An example of this process is found in Mus musculus. hp.json optic cup morphogenesis involved in camera-style eye development http://purl.obolibrary.org/obo/GO_0002072 HGNC:2295 biolink:Gene CP (human) A protein coding gene CP in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2295 HP:0001332 biolink:PhenotypicFeature Dystonia An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. UMLS:C0013421|UMLS:C4020871|MSH:D004421 hp.json Dystonic disease|Dystonic movements http://purl.obolibrary.org/obo/HP_0001332 HP:0003995 biolink:PhenotypicFeature Abnormality of the radial head UMLS:C4021696 hp.json Deformity of radial heads http://purl.obolibrary.org/obo/HP_0003995 HP:0003994 biolink:PhenotypicFeature Dislocated wrist An injury of the wrist with displacement of any of the eight carpal bones. SNOMEDCT_US:125618007|MEDDRA:10013184|UMLS:C0159941 hp.json Dislocated wrist|Dislocations of the wrists http://purl.obolibrary.org/obo/HP_0003994 GO:0014059 biolink:BiologicalProcess regulation of dopamine secretion Any process that modulates the frequency, rate or extent of the regulated release of dopamine. hp.json http://purl.obolibrary.org/obo/GO_0014059 HP:0003993 biolink:PhenotypicFeature Broad ulna Increased width of the ulna. UMLS:C4025460|UMLS:C4020692 hp.json Wide ulna http://purl.obolibrary.org/obo/HP_0003993 HP:0003992 biolink:PhenotypicFeature Slender ulna Reduction in diameter of the ulna. UMLS:C1968814 hp.json http://purl.obolibrary.org/obo/HP_0003992 HP:0001331 biolink:PhenotypicFeature Absent septum pellucidum Absence of the septum pellucidum. MSH:C535562|UMLS:C0431371|SNOMEDCT_US:253143001 hp.json Agenesis of the septum pellucidum|Missing septum pellucidum|Absence of the septum pellucidum|Absence of septum pellucidum http://purl.obolibrary.org/obo/HP_0001331 HP:0003999 biolink:PhenotypicFeature Abnormality of radial epiphyses UMLS:C4021694 hp.json Abnormality of radial epiphyseal plates http://purl.obolibrary.org/obo/HP_0003999 HP:0001336 biolink:PhenotypicFeature Myoclonus Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. UMLS:C1854302|SNOMEDCT_US:127324008|UMLS:C0027066|SNOMEDCT_US:17450006|MSH:D009207 hp.json Jerking|Involuntary jerking movements|Myoclonic jerks http://purl.obolibrary.org/obo/HP_0001336 HP:0001337 biolink:PhenotypicFeature Tremor An unintentional, oscillating to-and-fro muscle movement about a joint axis. UMLS:C0040822|MSH:D014202|SNOMEDCT_US:26079004 hp.json Tremors|Tremor http://purl.obolibrary.org/obo/HP_0001337 HP:0003998 biolink:PhenotypicFeature Constricted radial neck UMLS:C4025458 hp.json http://purl.obolibrary.org/obo/HP_0003998 HP:0003997 biolink:PhenotypicFeature Hypoplastic radial head UMLS:C4021695 hp.json Small radial head http://purl.obolibrary.org/obo/HP_0003997 HP:0001334 biolink:PhenotypicFeature Communicating hydrocephalus A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. SNOMEDCT_US:271569006|MSH:D006849|UMLS:C0009451 hp.json http://purl.obolibrary.org/obo/HP_0001334 HP:0001335 biolink:PhenotypicFeature Bimanual synkinesia Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. UMLS:C0454455|SNOMEDCT_US:229247004 hp.json Mirror hand movements|Hand mirror movements|Mirror movements http://purl.obolibrary.org/obo/HP_0001335 HP:0003996 biolink:PhenotypicFeature Flattened radial head UMLS:C4025459 hp.json http://purl.obolibrary.org/obo/HP_0003996 GO:0014050 biolink:BiologicalProcess negative regulation of glutamate secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of glutamate. hp.json inhibition of glutamate secretion|downregulation of glutamate secretion|down-regulation of glutamate secretion|down regulation of glutamate secretion http://purl.obolibrary.org/obo/GO_0014050 HP:0003991 biolink:PhenotypicFeature Osteosclerosis of the ulna Osteosclerosis (increased density related to increased bone mass) of the ulna. UMLS:C4021697 hp.json Sclerotic ulna http://purl.obolibrary.org/obo/HP_0003991 HP:0003990 biolink:PhenotypicFeature Pointed ulna UMLS:C4025461 hp.json http://purl.obolibrary.org/obo/HP_0003990 HP:0001308 biolink:PhenotypicFeature Tongue fasciculations Fasciculations or fibrillation affecting the tongue muscle. MSH:D005207|SNOMEDCT_US:249878001|UMLS:C0239548 hp.json Lingual twitching|Twitching of the tongue|Tongue fasciculation|Tongue fasciculations/fibrillations|Lingual fasciculations|Tongue twitching|Lingual fibrillations http://purl.obolibrary.org/obo/HP_0001308 HP:0003969 biolink:PhenotypicFeature Slender forearm bones UMLS:C4025471 hp.json http://purl.obolibrary.org/obo/HP_0003969 HP:0001305 biolink:PhenotypicFeature Dandy-Walker malformation A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. UMLS:C0010964|MSH:D003616|SNOMEDCT_US:14447001 hp.json Dandy-walker anomaly|Dandy-Walker cyst http://purl.obolibrary.org/obo/HP_0001305 HP:0003967 biolink:PhenotypicFeature Sclerotic forearm bones UMLS:C4025472 hp.json Increased bone density of forearm bones http://purl.obolibrary.org/obo/HP_0003967 HP:0001300 biolink:PhenotypicFeature Parkinsonism Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. UMLS:C0242422|MSH:D020734|SNOMEDCT_US:32798002 hp.json Parkinsonian disease http://purl.obolibrary.org/obo/HP_0001300 HP:0003961 biolink:PhenotypicFeature Fractured forearm bones Bone fracture in the radius, ulna, or wrist. UMLS:C4025477 hp.json Fractured forearm bones|Fracture of the forearm|Broken forearm http://purl.obolibrary.org/obo/HP_0003961 HP:0003960 biolink:PhenotypicFeature Exostoses of the forearm bones UMLS:C4025478 hp.json http://purl.obolibrary.org/obo/HP_0003960 GO:0014025 biolink:BiologicalProcess neural keel formation The formation of a thickened region of the neurectoderm that is roughly triangular in cross section. The neural keel develops from the neural plate and develops into the neural rod. Neural keel formation occurs during primary neurulation in teleosts. hp.json http://purl.obolibrary.org/obo/GO_0014025 HP:0003966 biolink:PhenotypicFeature Sclerotic foci in forearm bones UMLS:C4025473 hp.json http://purl.obolibrary.org/obo/HP_0003966 HP:0001304 biolink:PhenotypicFeature Torsion dystonia Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. MSH:D004422|UMLS:C0013423|SNOMEDCT_US:22451001|SNOMEDCT_US:431034009 hp.json Dystonia musculorum deformans http://purl.obolibrary.org/obo/HP_0001304 HP:0003965 biolink:PhenotypicFeature Pseudarthrosis of the forearm bones UMLS:C4025474 hp.json http://purl.obolibrary.org/obo/HP_0003965 GO:0014029 biolink:BiologicalProcess neural crest formation The formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation procedes. hp.json http://purl.obolibrary.org/obo/GO_0014029 HP:0001301 biolink:PhenotypicFeature Chronic sensorineural polyneuropathy UMLS:C4025794 hp.json http://purl.obolibrary.org/obo/HP_0001301 HP:0003964 biolink:PhenotypicFeature Osteoporotic forearm bones UMLS:C4025475 hp.json http://purl.obolibrary.org/obo/HP_0003964 GO:0014028 biolink:BiologicalProcess notochord formation The formation of the notochord from the chordamesoderm. The notochord is composed of large cells packed within a firm connective tissue sheath and is found in all chordates at the ventral surface of the neural tube. In vertebrates, the notochord contributes to the vertebral column. hp.json http://purl.obolibrary.org/obo/GO_0014028 HP:0003963 biolink:PhenotypicFeature Lytic defects of the forearm bones UMLS:C4025476 hp.json http://purl.obolibrary.org/obo/HP_0003963 HP:0001302 biolink:PhenotypicFeature Pachygyria Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. SNOMEDCT_US:23024003|MSH:D054082|UMLS:C0266483 hp.json Cerebral pachygyria|Fewer and broader ridges in brain http://purl.obolibrary.org/obo/HP_0001302 GO:0014023 biolink:BiologicalProcess neural rod formation The formation of a solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts. hp.json http://purl.obolibrary.org/obo/GO_0014023 GO:0014020 biolink:BiologicalProcess primary neural tube formation The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube. hp.json primary neurulation|neural rod cavitation|primary neural tube morphogenesis http://purl.obolibrary.org/obo/GO_0014020 GO:0002052 biolink:BiologicalProcess positive regulation of neuroblast proliferation Any process that activates or increases the rate of neuroblast proliferation. hp.json upregulation of neuroblast proliferation|up regulation of neuroblast proliferation|stimulation of neuroblast proliferation|up-regulation of neuroblast proliferation|activation of neuroblast proliferation http://purl.obolibrary.org/obo/GO_0002052 GO:0002053 biolink:BiologicalProcess positive regulation of mesenchymal cell proliferation The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells. hp.json activation of mesenchymal cell proliferation|upregulation of mesenchymal cell proliferation|up regulation of mesenchymal cell proliferation|stimulation of mesenchymal cell proliferation|up-regulation of mesenchymal cell proliferation http://purl.obolibrary.org/obo/GO_0002053 HP:0001319 biolink:PhenotypicFeature Neonatal hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. SNOMEDCT_US:205294008|UMLS:C2267233|MSH:D009123 hp.json Congenital hypotonia|Hypotonia, in neonatal onset|Hypotonia, neonatal|Low muscle tone, in neonatal onset http://purl.obolibrary.org/obo/HP_0001319 GO:0002054 biolink:MolecularActivity nucleobase binding Binding to a nucleobase, any of a class of pyrmidines or purines, organic nitrogenous bases. hp.json http://purl.obolibrary.org/obo/GO_0002054 goslim_pir HP:0003979 biolink:PhenotypicFeature Lytic defects of the radius UMLS:C4021841 hp.json http://purl.obolibrary.org/obo/HP_0003979 HP:0003978 biolink:PhenotypicFeature Fractured radius SNOMEDCT_US:12676007|UMLS:C0034628|MSH:D011885 hp.json http://purl.obolibrary.org/obo/HP_0003978 HP:0001317 biolink:PhenotypicFeature Abnormal cerebellum morphology Any structural abnormality of the cerebellum. UMLS:C1866129|UMLS:C0742038 hp.json Cerebellar signs|Cerebellar abnormality|Abnormality of the cerebellum|Cerebellar abnormalities|Cerebellar anomaly http://purl.obolibrary.org/obo/HP_0001317 HP:0003973 biolink:PhenotypicFeature Wide radioulnar joints UMLS:C4021699 hp.json Broad radioulnar joints http://purl.obolibrary.org/obo/HP_0003973 GO:0014038 biolink:BiologicalProcess regulation of Schwann cell differentiation Any process that modulates the frequency, rate or extent of Schwann cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0014038 HP:0001310 biolink:PhenotypicFeature Dysmetria A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. SNOMEDCT_US:32566006|UMLS:C0234162|MSH:D002524 hp.json Abnormal finger-nose-finger test|Lack of coordination of movement|Abnormal finger chase test http://purl.obolibrary.org/obo/HP_0001310 HP:0001311 biolink:PhenotypicFeature Abnormal nervous system electrophysiology An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. UMLS:C4021781 hp.json Neurophysiologic abnormality|Neurophysiologic abnormalities http://purl.obolibrary.org/obo/HP_0001311 GO:0014037 biolink:BiologicalProcess Schwann cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a Schwann cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function. hp.json http://purl.obolibrary.org/obo/GO_0014037 HP:0003971 biolink:PhenotypicFeature Broad forearm bones Abnormally wide bone of the skeleton of forearm. UMLS:C4021700 hp.json Wide forearm bones|Broad forearm bones http://purl.obolibrary.org/obo/HP_0003971 HP:0003970 biolink:PhenotypicFeature Undermodelled forearm bones UMLS:C4025470 hp.json http://purl.obolibrary.org/obo/HP_0003970 HP:0003977 biolink:PhenotypicFeature Deformed radius UMLS:C4025467 hp.json http://purl.obolibrary.org/obo/HP_0003977 HP:0001315 biolink:PhenotypicFeature Reduced tendon reflexes Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. UMLS:C1866934 hp.json Absent or decreased deep tendon reflexes|Diminished deep tendon reflexes|Decreased/absent deep tendon reflexes|Decreased to absent deep tendon reflexes|Hypoactive to absent deep tendon reflexes|Diminished or absent deep tendon reflexes|Decreased deep tendon reflexes|Decreased tendon reflexes|Diminished or absent tendon reflexes|Reduced/absent deep tendon reflexes|Depressed tendon reflexes|Weak or absent deep tendon reflexes|Impaired tendon reflexes http://purl.obolibrary.org/obo/HP_0001315 HP:0003976 biolink:PhenotypicFeature Constricted radius UMLS:C4025468 hp.json http://purl.obolibrary.org/obo/HP_0003976 HP:0001312 biolink:PhenotypicFeature Giant somatosensory evoked potentials An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. UMLS:C3806961 hp.json Giant SEPS http://purl.obolibrary.org/obo/HP_0001312 HP:0003975 biolink:PhenotypicFeature obsolete Chevron-shaped/cone-shaped radius hp.json http://purl.obolibrary.org/obo/HP_0003975 HP:0003974 biolink:PhenotypicFeature Absent radius Missing radius bone associated with congenital failure of development. UMLS:C1838608|UMLS:C1405984|UMLS:C1849314 hp.json absence of radius and ulna|Missing outer large bone of forearm|Radial aplasia|Aplasia of the radius|Absent ossification/absence of radius http://purl.obolibrary.org/obo/HP_0003974 hposlim_core GO:0014039 biolink:BiologicalProcess negative regulation of Schwann cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of Schwann cell differentiation. hp.json downregulation of Schwann cell differentiation|down regulation of Schwann cell differentiation|inhibition of Schwann cell differentiation|down-regulation of Schwann cell differentiation http://purl.obolibrary.org/obo/GO_0014039 GO:0014033 biolink:BiologicalProcess neural crest cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. hp.json http://purl.obolibrary.org/obo/GO_0014033 GO:0014032 biolink:BiologicalProcess neural crest cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. hp.json http://purl.obolibrary.org/obo/GO_0014032 GO:0014031 biolink:BiologicalProcess mesenchymal cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. hp.json http://purl.obolibrary.org/obo/GO_0014031 GO:0002027 biolink:BiologicalProcess regulation of heart rate Any process that modulates the frequency or rate of heart contraction. hp.json regulation of rate of heart contraction|cardiac chronotropy|regulation of heart contraction rate http://purl.obolibrary.org/obo/GO_0002027 GO:2000269 biolink:BiologicalProcess regulation of fibroblast apoptotic process Any process that modulates the frequency, rate or extent of fibroblast apoptotic process. hp.json regulation of fibroblast apoptosis http://purl.obolibrary.org/obo/GO_2000269 HP:0025332 biolink:PhenotypicFeature Abnormality of foot cortical bone An anomaly of the outer shell (cortex) of a foot bone. hp.json Abnormality of the cortex of foot bones http://purl.obolibrary.org/obo/HP_0025332 GO:2000261 biolink:BiologicalProcess negative regulation of blood coagulation, common pathway Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation, common pathway. hp.json http://purl.obolibrary.org/obo/GO_2000261 HP:0025333 biolink:PhenotypicFeature Cortical thinning of foot bones A reduction in the thickness of the outer shell (cortex) of foot bones. hp.json http://purl.obolibrary.org/obo/HP_0025333 GO:2000262 biolink:BiologicalProcess positive regulation of blood coagulation, common pathway Any process that activates or increases the frequency, rate or extent of blood coagulation, common pathway. hp.json http://purl.obolibrary.org/obo/GO_2000262 HP:0001363 biolink:PhenotypicFeature Craniosynostosis Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. SNOMEDCT_US:57219006|UMLS:C0010278|MSH:D003398|UMLS:C0235942|Fyler:4336 hp.json Craniostenosis|Premature fontanel closure|Cranial suture synostosis|Premature suture closure|Early fusion of cranial sutures|Deformity of the skull|Craniosyostosis|Premature closure of cranial sutures http://purl.obolibrary.org/obo/HP_0001363 hposlim_core HP:0025334 biolink:PhenotypicFeature Triggered by emotion Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion). hp.json Emotion triggered symptoms http://purl.obolibrary.org/obo/HP_0025334 GO:2000263 biolink:BiologicalProcess regulation of blood coagulation, extrinsic pathway Any process that modulates the frequency, rate or extent of blood coagulation, extrinsic pathway. hp.json http://purl.obolibrary.org/obo/GO_2000263 GO:0014003 biolink:BiologicalProcess oligodendrocyte development The process aimed at the progression of an oligodendrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An oligodendrocyte is a type of glial cell involved in myelinating the axons in the central nervous system. hp.json oligodendrocyte cell development http://purl.obolibrary.org/obo/GO_0014003 HP:0025335 biolink:PhenotypicFeature Delayed ability to stand A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. hp.json http://purl.obolibrary.org/obo/HP_0025335 GO:2000264 biolink:BiologicalProcess negative regulation of blood coagulation, extrinsic pathway Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation, extrinsic pathway. hp.json http://purl.obolibrary.org/obo/GO_2000264 GO:0014009 biolink:BiologicalProcess glial cell proliferation The multiplication or reproduction of glial cells by cell division, resulting in the expansion of their population. Glial cells exist throughout the nervous system, and include Schwann cells, astrocytes, and oligodendrocytes among others. hp.json glia proliferation http://purl.obolibrary.org/obo/GO_0014009 HP:0001369 biolink:PhenotypicFeature Arthritis Inflammation of a joint. SNOMEDCT_US:3723001|MSH:D001168|UMLS:C0003864 hp.json Joint inflammation|Arthritis http://purl.obolibrary.org/obo/HP_0001369 HP:0025336 biolink:PhenotypicFeature Delayed ability to sit A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. hp.json http://purl.obolibrary.org/obo/HP_0025336 GO:2000265 biolink:BiologicalProcess positive regulation of blood coagulation, extrinsic pathway Any process that activates or increases the frequency, rate or extent of blood coagulation, extrinsic pathway. hp.json http://purl.obolibrary.org/obo/GO_2000265 HP:0025337 biolink:PhenotypicFeature Red eye A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. hp.json Red eye|Red eyes http://purl.obolibrary.org/obo/HP_0025337 GO:2000266 biolink:BiologicalProcess regulation of blood coagulation, intrinsic pathway Any process that modulates the frequency, rate or extent of blood coagulation, intrinsic pathway. hp.json http://purl.obolibrary.org/obo/GO_2000266 HP:0001367 biolink:PhenotypicFeature Abnormal joint morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. UMLS:C0240083|UMLS:C0022408|MSH:D007592|SNOMEDCT_US:399269003 hp.json Abnormal shape of joints|Abnormality of the joints|Anomaly of the joints|Joint disease http://purl.obolibrary.org/obo/HP_0001367 GO:2000267 biolink:BiologicalProcess negative regulation of blood coagulation, intrinsic pathway Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation, intrinsic pathway. hp.json http://purl.obolibrary.org/obo/GO_2000267 HP:0025338 biolink:PhenotypicFeature Circumlimbal hyperemia A ring of redness at the limbus of the eye, the border between the cornea and the sclera. hp.json Ciliary limbus|Circumlimbal hyperaemia http://purl.obolibrary.org/obo/HP_0025338 GO:0016667 biolink:MolecularActivity oxidoreductase activity, acting on a sulfur group of donors Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. EC:1.8.-.-|Reactome:R-HSA-2213240 hp.json oxidoreductase activity, acting on sulfur group of donors, other acceptors|oxidoreductase activity, acting on sulphur group of donors http://purl.obolibrary.org/obo/GO_0016667 HP:0025339 biolink:PhenotypicFeature Superficial episcleral hyperemia Prominence of blood vessels of the superficial episcleral tissues. hp.json Superficial episcleral hypaeremia http://purl.obolibrary.org/obo/HP_0025339 GO:2000268 biolink:BiologicalProcess positive regulation of blood coagulation, intrinsic pathway Any process that activates or increases the frequency, rate or extent of blood coagulation, intrinsic pathway. hp.json http://purl.obolibrary.org/obo/GO_2000268 HP:0001361 biolink:PhenotypicFeature Nystagmus-induced head nodding Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. UMLS:C4025788 hp.json http://purl.obolibrary.org/obo/HP_0001361 HP:0001362 biolink:PhenotypicFeature Calvarial skull defect A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. UMLS:C4280595|UMLS:C4025787|UMLS:C4280596 hp.json Cranial defect|Skull defect|Calvarial defect http://purl.obolibrary.org/obo/HP_0001362 HP:0025330 biolink:PhenotypicFeature Downgaze palsy A limitation of the ability to direct one's gaze below the horizontal meridian. hp.json Downgaze paresis|Supranuclear downgaze palsy http://purl.obolibrary.org/obo/HP_0025330 HP:0025331 biolink:PhenotypicFeature Upgaze palsy A limitation of the ability to direct one's gaze above the horizontal meridian. hp.json Upgaze paresis|Supranuclear upgaze palsy http://purl.obolibrary.org/obo/HP_0025331 GO:2000260 biolink:BiologicalProcess regulation of blood coagulation, common pathway Any process that modulates the frequency, rate or extent of blood coagulation, common pathway. hp.json http://purl.obolibrary.org/obo/GO_2000260 HP:0001360 biolink:PhenotypicFeature Holoprosencephaly Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. UMLS:C0079541|Fyler:4338|SNOMEDCT_US:30915001|MSH:D016142 hp.json Single brain ventricle http://purl.obolibrary.org/obo/HP_0001360 HP:0025329 biolink:PhenotypicFeature Anti-glutamic acid decarboxylase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. hp.json Anti-GAD antibody positivity http://purl.obolibrary.org/obo/HP_0025329 HP:0025321 biolink:PhenotypicFeature Copper accumulation in liver An anomalous build up of copper (Cu) in the liver. hp.json Liver copper accumulation http://purl.obolibrary.org/obo/HP_0025321 GO:0014016 biolink:BiologicalProcess neuroblast differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuroblast. There are at least four stages through which the pluripotent cells of epiblast or blastula become neuroblasts. hp.json http://purl.obolibrary.org/obo/GO_0014016 GO:2000272 biolink:BiologicalProcess negative regulation of signaling receptor activity Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity. hp.json negative regulation of signalling receptor activity|negative regulation of receptor activity http://purl.obolibrary.org/obo/GO_2000272 HP:0001376 biolink:PhenotypicFeature Limitation of joint mobility A reduction in the freedom of movement of one or more joints. UMLS:C1857108 hp.json Decreased joint mobility|Decreased mobility of joints|Limited joint mobility|Limitation of joint mobility|Limited joint motion http://purl.obolibrary.org/obo/HP_0001376 HP:0001377 biolink:PhenotypicFeature Limited elbow extension Limited ability to straighten the arm at the elbow joint. UMLS:C1867103 hp.json Limitation of elbow extension|Restricted elbow extension|Limited elbow extension|Elbow limited extension|Limited forearm extension|Decreased elbow extension|Limited extension at elbows http://purl.obolibrary.org/obo/HP_0001377 hposlim_core GO:0014015 biolink:BiologicalProcess positive regulation of gliogenesis Any process that activates or increases the frequency, rate or extent of gliogenesis, the formation of mature glia. hp.json stimulation of gliogenesis|upregulation of gliogenesis|up-regulation of gliogenesis|up regulation of gliogenesis|activation of gliogenesis http://purl.obolibrary.org/obo/GO_0014015 GO:2000273 biolink:BiologicalProcess positive regulation of signaling receptor activity Any process that activates or increases the frequency, rate or extent of signaling receptor activity. hp.json positive regulation of signalling receptor activity http://purl.obolibrary.org/obo/GO_2000273 HP:0025322 biolink:PhenotypicFeature Venous occlusion Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein. hp.json http://purl.obolibrary.org/obo/HP_0025322 GO:0014014 biolink:BiologicalProcess negative regulation of gliogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of gliogenesis, the formation of mature glia. hp.json down-regulation of gliogenesis|down regulation of gliogenesis|inhibition of gliogenesis|downregulation of gliogenesis http://purl.obolibrary.org/obo/GO_0014014 HP:0001374 biolink:PhenotypicFeature Congenital hip dislocation SNOMEDCT_US:48334007|SNOMEDCT_US:52781008|UMLS:C0019555|MSH:D006618 hp.json Congenital dislocation of the hips|Congenital dislocation of the hip|Congenital hip dislocations|Dislocated hip since birth|Congenital hip anomaly http://purl.obolibrary.org/obo/HP_0001374 HP:0025323 biolink:PhenotypicFeature Abnormal arterial physiology An anomaly of arterial function. hp.json http://purl.obolibrary.org/obo/HP_0025323 GO:0014013 biolink:BiologicalProcess regulation of gliogenesis Any process that modulates the frequency, rate or extent of gliogenesis, the formation of mature glia. hp.json http://purl.obolibrary.org/obo/GO_0014013 HP:0025324 biolink:PhenotypicFeature Arterial occlusion Blockage of blood flow through an artery. hp.json http://purl.obolibrary.org/obo/HP_0025324 HP:0025325 biolink:PhenotypicFeature Sparse medial eyebrow Decreased density/number and/or decreased diameter of medial eyebrow hairs. hp.json Medial thinning of eyebrow http://purl.obolibrary.org/obo/HP_0025325 HP:0025326 biolink:PhenotypicFeature Retinal arterial occlusion Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina. hp.json Retinal artery occlusion http://purl.obolibrary.org/obo/HP_0025326 GO:0014019 biolink:BiologicalProcess neuroblast development The process aimed at the progression of a neuroblast over time, from initial commitment of the cell to a specific state, to the mature neuroblast. It does not include processes where the neuroblast turns into a glial cell or a neuron. hp.json http://purl.obolibrary.org/obo/GO_0014019 HP:0025327 biolink:PhenotypicFeature Decreased renal parenchymal thickness Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. hp.json http://purl.obolibrary.org/obo/HP_0025327 HP:0025328 biolink:PhenotypicFeature Antepartum hemorrhage Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby. hp.json Prepartum hemorrhage|Prepartum haemorrhage|Antepartum haemorrhage http://purl.obolibrary.org/obo/HP_0025328 HP:0001379 biolink:PhenotypicFeature obsolete Degenerative joint disease hp.json http://purl.obolibrary.org/obo/HP_0001379 HP:0001373 biolink:PhenotypicFeature Joint dislocation Displacement or malalignment of joints. MSH:D004204|SNOMEDCT_US:108367008|UMLS:C0012691|SNOMEDCT_US:87642003 hp.json Joint dislocation|Joint dislocations http://purl.obolibrary.org/obo/HP_0001373 CHEBI:137982 biolink:ChemicalSubstance tertiary ammonium ion An organic cation obtained by protonation of the amino group of any tertiary amino compound. hp.json a tertiary amine|tertiary amine(1+)|tertiary ammonium ions http://purl.obolibrary.org/obo/CHEBI_137982 3_STAR GO:2000270 biolink:BiologicalProcess negative regulation of fibroblast apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of fibroblast apoptotic process. hp.json negative regulation of fibroblast apoptosis http://purl.obolibrary.org/obo/GO_2000270 HP:0001370 biolink:PhenotypicFeature Rheumatoid arthritis Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. UMLS:C0003873|SNOMEDCT_US:69896004|MSH:D001172 hp.json Rheumatoid arthritis|RA http://purl.obolibrary.org/obo/HP_0001370 GO:0014010 biolink:BiologicalProcess Schwann cell proliferation The multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. hp.json http://purl.obolibrary.org/obo/GO_0014010 HP:0001371 biolink:PhenotypicFeature Flexion contracture A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. SNOMEDCT_US:203598005|UMLS:C0009918|UMLS:C0009917|SNOMEDCT_US:57048009|MSH:D003286|UMLS:C1850530|SNOMEDCT_US:55033002|UMLS:C0333068|SNOMEDCT_US:7890003|SNOMEDCT_US:88565003|SNOMEDCT_US:385522000 hp.json Flexion contractures of joints|Flexion contractures|Flexed joint that cannot be straightened http://purl.obolibrary.org/obo/HP_0001371 GO:2000271 biolink:BiologicalProcess positive regulation of fibroblast apoptotic process Any process that activates or increases the frequency, rate or extent of fibroblast apoptotic process. hp.json positive regulation of fibroblast apoptosis http://purl.obolibrary.org/obo/GO_2000271 HP:0025320 biolink:PhenotypicFeature Leakage of dye on fundus fluorescein angiography Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins. hp.json Fluorescein leakage http://purl.obolibrary.org/obo/HP_0025320 GO:0016670 biolink:MolecularActivity oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen. EC:1.8.3.- hp.json oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor http://purl.obolibrary.org/obo/GO_0016670 HP:0025318 biolink:PhenotypicFeature Ovarian carcinoma A malignant neoplasm originating from the surface ovarian epithelium. NCIT:C4908 hp.json Ovarian epithelial cancer http://purl.obolibrary.org/obo/HP_0025318 HP:0025319 biolink:PhenotypicFeature Rubeosis iridis Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. hp.json http://purl.obolibrary.org/obo/HP_0025319 HP:0001349 biolink:PhenotypicFeature Facial diplegia Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). UMLS:C1836003 hp.json Facial paresis, bilateral|Bilateral facial weakness http://purl.obolibrary.org/obo/HP_0001349 hposlim_core GO:2000283 biolink:BiologicalProcess negative regulation of cellular amino acid biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of cellular amino acid biosynthetic process. hp.json negative regulation of cellular amino acid anabolism|negative regulation of amino acid biosynthetic process|negative regulation of cellular amino acid synthesis|negative regulation of cellular amino acid formation|negative regulation of cellular amino acid biosynthesis http://purl.obolibrary.org/obo/GO_2000283 HP:0001343 biolink:PhenotypicFeature Kernicterus Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction. SNOMEDCT_US:50143004|SNOMEDCT_US:74925009|MSH:D007647|UMLS:C0022610 hp.json http://purl.obolibrary.org/obo/HP_0001343 HP:0025310 biolink:PhenotypicFeature Oval pupil An abnormal pupil shape that is elliptical, i.e., egg-like. hp.json http://purl.obolibrary.org/obo/HP_0025310 GO:2000284 biolink:BiologicalProcess positive regulation of cellular amino acid biosynthetic process Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process. hp.json positive regulation of cellular amino acid biosynthesis|positive regulation of cellular amino acid synthesis|positive regulation of cellular amino acid formation|positive regulation of amino acid biosynthetic process|positive regulation of cellular amino acid anabolism http://purl.obolibrary.org/obo/GO_2000284 HP:0001344 biolink:PhenotypicFeature Absent speech Complete lack of development of speech and language abilities. UMLS:C1854882|UMLS:C0746940 hp.json No speech or language development|No speech development|Lack of language development|Lack of speech|Nonverbal|Absent speech development http://purl.obolibrary.org/obo/HP_0001344 HP:0025311 biolink:PhenotypicFeature Anterior chamber cyst A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material. hp.json http://purl.obolibrary.org/obo/HP_0025311 HP:0025312 biolink:PhenotypicFeature Esophoria A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. hp.json http://purl.obolibrary.org/obo/HP_0025312 HP:0001341 biolink:PhenotypicFeature Olfactory lobe agenesis UMLS:C1855331 hp.json Olfactory lobe absence http://purl.obolibrary.org/obo/HP_0001341 HP:0001342 biolink:PhenotypicFeature Cerebral hemorrhage Hemorrhage into the parenchyma of the brain. UMLS:C0553692|UMLS:C2937358|MSH:D020300|SNOMEDCT_US:230706003|MSH:D002543|SNOMEDCT_US:274100004 hp.json Intracerebral hemorrhage|Cerebral haemorrhage|Hemorrhagic stroke|Intracerebral haemorrhage|Bleeding in brain http://purl.obolibrary.org/obo/HP_0001342 HP:0025313 biolink:PhenotypicFeature Exophoria A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. hp.json http://purl.obolibrary.org/obo/HP_0025313 HP:0001347 biolink:PhenotypicFeature Hyperreflexia Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. SNOMEDCT_US:86854008|UMLS:C0151889|MSH:D012021 hp.json Increased reflexes|Increased deep tendon reflexes http://purl.obolibrary.org/obo/HP_0001347 HP:0025314 biolink:PhenotypicFeature Choroidal nevus A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia. hp.json http://purl.obolibrary.org/obo/HP_0025314 GO:2000287 biolink:BiologicalProcess positive regulation of myotome development Any process that activates or increases the frequency, rate or extent of myotome development. hp.json http://purl.obolibrary.org/obo/GO_2000287 HP:0001348 biolink:PhenotypicFeature Brisk reflexes Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. UMLS:C2673700 hp.json Brisk deep tendon reflexes http://purl.obolibrary.org/obo/HP_0001348 GO:2000288 biolink:BiologicalProcess positive regulation of myoblast proliferation Any process that activates or increases the frequency, rate or extent of myoblast proliferation. hp.json http://purl.obolibrary.org/obo/GO_2000288 HP:0025315 biolink:PhenotypicFeature Exacerbated by head trauma Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma. hp.json http://purl.obolibrary.org/obo/HP_0025315 HP:0001345 biolink:PhenotypicFeature Psychotic mentation UMLS:C4025789 hp.json http://purl.obolibrary.org/obo/HP_0001345 HP:0025317 biolink:PhenotypicFeature Cubitus varus A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body. hp.json http://purl.obolibrary.org/obo/HP_0025317 GO:0002009 biolink:BiologicalProcess morphogenesis of an epithelium The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. hp.json epithelium morphogenesis http://purl.obolibrary.org/obo/GO_0002009 HP:0001340 biolink:PhenotypicFeature Enhancement of the C-reflex Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response. UMLS:C3552824 hp.json http://purl.obolibrary.org/obo/HP_0001340 GO:2000282 biolink:BiologicalProcess regulation of cellular amino acid biosynthetic process Any process that modulates the frequency, rate or extent of cellular amino acid biosynthetic process. hp.json regulation of cellular amino acid anabolism|regulation of cellular amino acid biosynthesis|regulation of amino acid biosynthetic process|regulation of cellular amino acid synthesis|regulation of cellular amino acid formation http://purl.obolibrary.org/obo/GO_2000282 GO:0002016 biolink:NamedThing regulation of blood volume by renin-angiotensin hp.json http://purl.obolibrary.org/obo/GO_0002016 GO:0002018 biolink:NamedThing renin-angiotensin regulation of aldosterone production hp.json http://purl.obolibrary.org/obo/GO_0002018 HP:0025307 biolink:PhenotypicFeature Acute emergence over hours Acute appearance of disease manifestations in a period of hours. hp.json http://purl.obolibrary.org/obo/HP_0025307 HP:0025308 biolink:PhenotypicFeature Acute emergence over days Acute appearance of disease manifestations in a period of days. hp.json http://purl.obolibrary.org/obo/HP_0025308 HP:0025309 biolink:PhenotypicFeature Abnormal pupil shape A deviation from the normal circular shape of the pupil hp.json Irregular pupil http://purl.obolibrary.org/obo/HP_0025309 GO:0002011 biolink:BiologicalProcess morphogenesis of an epithelial sheet The process in which the anatomical structures of an epithelial sheet are generated and organized. An epithelial sheet is a flat surface consisting of closely packed epithelial cells. hp.json http://purl.obolibrary.org/obo/GO_0002011 GO:2000294 biolink:BiologicalProcess positive regulation of defecation Any process that activates or increases the frequency, rate or extent of defecation. hp.json http://purl.obolibrary.org/obo/GO_2000294 HP:0025300 biolink:PhenotypicFeature Malar rash An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. hp.json Cheekbone rash|Butterfly rash http://purl.obolibrary.org/obo/HP_0025300 HP:0001355 biolink:PhenotypicFeature Megalencephaly Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). MSH:D058627|SNOMEDCT_US:19410003|UMLS:C0221355 hp.json Macrencephaly|Enlarged brain http://purl.obolibrary.org/obo/HP_0001355 HP:0025301 biolink:PhenotypicFeature Nocturnal Applies to an abnormality that occurs in or is exacerbated during the night. hp.json http://purl.obolibrary.org/obo/HP_0025301 HP:0025302 biolink:PhenotypicFeature Diurnal Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time. hp.json http://purl.obolibrary.org/obo/HP_0025302 HP:0025303 biolink:PhenotypicFeature Episodic Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present. hp.json Now and then http://purl.obolibrary.org/obo/HP_0025303 HP:0025304 biolink:PhenotypicFeature Periodic Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length. hp.json Cyclic|Cyclical http://purl.obolibrary.org/obo/HP_0025304 HP:0025305 biolink:PhenotypicFeature Quotidian Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours). hp.json http://purl.obolibrary.org/obo/HP_0025305 HP:0001357 biolink:PhenotypicFeature Plagiocephaly Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. UMLS:C4072830|UMLS:C4280598|MSH:D059041|UMLS:C4280597|UMLS:C0265529|UMLS:C4280807|SNOMEDCT_US:254024005|SNOMEDCT_US:21850008|MSH:D049068|UMLS:C1450010 hp.json Flattening of cranium|Rhomboid shaped head|Deformational plagiocephaly|Rhomboid shaped cranium|Asymmetry of the posterior skull|Flattening of head|Asymmetry of the posterior head|Flat head syndrome|Positional plagiocephaly|Flattening of skull|Asymmetry of the posterior cranium|Flattening of cranial vault|Rhomboid shaped skull|Flat head http://purl.obolibrary.org/obo/HP_0001357 hposlim_core HP:0025306 biolink:PhenotypicFeature Acute emergence over minutes Acute appearance of disease manifestations in a period of minutes. hp.json http://purl.obolibrary.org/obo/HP_0025306 GO:2000290 biolink:BiologicalProcess regulation of myotome development Any process that modulates the frequency, rate or extent of myotome development. hp.json http://purl.obolibrary.org/obo/GO_2000290 HP:0001350 biolink:PhenotypicFeature Slurred speech Abnormal coordination of muscles involved in speech. UMLS:C0234518|SNOMEDCT_US:289195008 hp.json Slurred speech http://purl.obolibrary.org/obo/HP_0001350 GO:2000291 biolink:BiologicalProcess regulation of myoblast proliferation Any process that modulates the frequency, rate or extent of myoblast proliferation. hp.json http://purl.obolibrary.org/obo/GO_2000291 HP:0001351 biolink:PhenotypicFeature Jerk-locked premyoclonus spikes Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. UMLS:C3552825 hp.json http://purl.obolibrary.org/obo/HP_0001351 GO:2000292 biolink:BiologicalProcess regulation of defecation Any process that modulates the frequency, rate or extent of defecation. hp.json http://purl.obolibrary.org/obo/GO_2000292 GO:2000293 biolink:BiologicalProcess negative regulation of defecation Any process that stops, prevents or reduces the frequency, rate or extent of defecation. hp.json http://purl.obolibrary.org/obo/GO_2000293 GO:0110011 biolink:BiologicalProcess regulation of basement membrane organization Any process that modulates the frequency, rate or extent of the assembly, disassembly or arrangement of constituent parts of the basement membrane. hp.json http://purl.obolibrary.org/obo/GO_0110011 HP:0001967 biolink:PhenotypicFeature Diffuse mesangial sclerosis Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. SNOMEDCT_US:111406002|UMLS:C0268747|MSH:C537346 hp.json Diffuse mesangial sclerosis glomerulopathy|Mesangial sclerosis http://purl.obolibrary.org/obo/HP_0001967 HP:0001965 biolink:PhenotypicFeature Abnormal scalp morphology Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. UMLS:C4025734 hp.json Anomaly of scalp|Abnormality of the scalp http://purl.obolibrary.org/obo/HP_0001965 HP:0001966 biolink:PhenotypicFeature Abnormal glomerular mesangium morphology An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. UMLS:C4025733 hp.json Mesangial abnormality|Abnormality glomerular mesangium morphology|Abnormality of the glomerular mesangium http://purl.obolibrary.org/obo/HP_0001966 HP:0001969 biolink:PhenotypicFeature Abnormal tubulointerstitial morphology An abnormality that involves the tubules and interstitial tissue of the kidney. UMLS:C0041349|MSH:D009395|UMLS:C4025732|SNOMEDCT_US:28689008|SNOMEDCT_US:428255004 hp.json Tubulointerstitial abnormality|Tubulointerstitial nephropathy http://purl.obolibrary.org/obo/HP_0001969 CHEBI:16737 biolink:ChemicalSubstance creatinine A lactam obtained by formal cyclocondensation of creatine. It is a metabolite of creatine. PMID:22498455|PMID:22432114|KEGG:C00791|CAS:60-27-5|PMID:21775764|PMID:22390548|CAS:60-27-5|PMID:22223530|PMID:11256540|PMID:22166252|PMID:22207347|HMDB:HMDB0000562|PMID:22441184|PMID:22121923|PMID:18182718|PMID:22349552|Wikipedia:Creatinine|PMID:11981083|MetaCyc:CREATININE|PMID:17422601|PMID:19236048|PMID:22459582|PMID:19968328|PMID:22331238|PMID:19715855|PMID:22212624|PMID:22047975|Reaxys:112064|KEGG:D03600|CAS:60-27-5|PMID:22338083|PMID:17190852 hp.json 1-Methylhydantoin-2-imide|creatinine|creatinine|1-Methylglycocyamidine|2-Amino-1-methylimidazolin-4-one|2-imino-1-methylimidazolidin-4-one|2-amino-1,5-dihydro-1-methyl-4H-Imidazol-4-one|creatinina|Creatinine|1-methylglycocyamidine|Kreatinin|Creatine anhydride http://purl.obolibrary.org/obo/CHEBI_16737 3_STAR HP:0001960 biolink:PhenotypicFeature Hypokalemic metabolic alkalosis UMLS:C0740898 hp.json http://purl.obolibrary.org/obo/HP_0001960 CHEBI:16733 biolink:ChemicalSubstance D-alpha-amino acid KEGG:C00405 hp.json D-Amino acid|D-alpha-amino acids|D-alpha-amino acids|D-alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_16733 3_STAR HP:0001963 biolink:PhenotypicFeature Abnormal speech discrimination A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. UMLS:C1836752 hp.json Abnormal speech discrimination|Poor speech discrimination http://purl.obolibrary.org/obo/HP_0001963 HP:0001964 biolink:PhenotypicFeature Aplasia/Hypoplasia of metatarsal bones Absence or underdevelopment of the metatarsal bones. UMLS:C1860182 hp.json Absent/underdeveloped long bone of foot|Absent/hypoplastic metacarpals|Absent/hypoplastic metatarsals|Absent/small long bone of foot|Aplastic/hypoplastic metatarsals|Absent or hypoplastic metatarsal http://purl.obolibrary.org/obo/HP_0001964 HP:0001961 biolink:PhenotypicFeature Hypoplastic heart UMLS:C3151525 hp.json Small heart|Underdeveloped heart http://purl.obolibrary.org/obo/HP_0001961 HP:0001962 biolink:PhenotypicFeature Palpitations A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. SNOMEDCT_US:80313002|UMLS:C0030252 hp.json Missed heart beat|Heart palpitations|Skipped heart beat|Palpitations http://purl.obolibrary.org/obo/HP_0001962 GO:0110023 biolink:BiologicalProcess negative regulation of cardiac muscle myoblast proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle myoblast proliferation. hp.json http://purl.obolibrary.org/obo/GO_0110023 GO:0110024 biolink:BiologicalProcess positive regulation of cardiac muscle myoblast proliferation Any process that activates or increases the frequency, rate or extent of cardiac muscle myoblast proliferation. hp.json http://purl.obolibrary.org/obo/GO_0110024 GO:0110021 biolink:BiologicalProcess cardiac muscle myoblast proliferation The multiplication or reproduction of cardiac muscle myoblasts, resulting in the expansion of a cardiac muscle myoblast cell population. A cardiac myoblast is a precursor cell that has been committed to a cardiac muscle cell fate but retains the ability to divide and proliferate throughout life. hp.json http://purl.obolibrary.org/obo/GO_0110021 GO:0099143 biolink:CellularComponent presynaptic actin cytoskeleton The actin cytoskeleton that is part of a presynapse. hp.json http://purl.obolibrary.org/obo/GO_0099143 goslim_synapse GO:0110022 biolink:BiologicalProcess regulation of cardiac muscle myoblast proliferation Any process that modulates the frequency, rate or extent of cardiac muscle myoblast proliferation. hp.json http://purl.obolibrary.org/obo/GO_0110022 HP:0001978 biolink:PhenotypicFeature Extramedullary hematopoiesis The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. UMLS:C1292120|UMLS:C2613439|SNOMEDCT_US:42952007|SNOMEDCT_US:124958002 hp.json Extramedullary erythropoiesis http://purl.obolibrary.org/obo/HP_0001978 GO:0099140 biolink:BiologicalProcess presynaptic actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins in the presynaptic actin cytoskeleton. hp.json http://purl.obolibrary.org/obo/GO_0099140 goslim_synapse GO:0110020 biolink:BiologicalProcess regulation of actomyosin structure organization Any process that modulates the frequency, rate or extent of the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. hp.json http://purl.obolibrary.org/obo/GO_0110020 HP:0001976 biolink:PhenotypicFeature Reduced antithrombin III activity An abnormality of coagulation related to a decreased concentration of antithrombin-III. SNOMEDCT_US:36351005|MSH:D020152|UMLS:C0272375 hp.json Decreased antithrombin III|Anti-thrombin III deficiency|Antithrombin III deficiency http://purl.obolibrary.org/obo/HP_0001976 HP:0001977 biolink:PhenotypicFeature Abnormal thrombosis Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). UMLS:C4025731 hp.json Abnormal blood clotting|Abnormal blood clot http://purl.obolibrary.org/obo/HP_0001977 HP:0001970 biolink:PhenotypicFeature Tubulointerstitial nephritis A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. SNOMEDCT_US:28689008|SNOMEDCT_US:428255004|UMLS:C0041349|MSH:D009395 hp.json Nephritis, Tubulointerstitial|Interstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 HP:0001971 biolink:PhenotypicFeature Hypersplenism A malfunctioning of the spleen in which it prematurely destroys red blood cells. UMLS:C0020532|SNOMEDCT_US:58381000|MSH:D006971 hp.json http://purl.obolibrary.org/obo/HP_0001971 HP:0001974 biolink:PhenotypicFeature Leukocytosis An abnormal increase in the number of leukocytes in the blood. MSH:D007964|UMLS:C0023518|SNOMEDCT_US:111583006 hp.json Increased blood leukocyte number|High white blood count|Elevated white blood count http://purl.obolibrary.org/obo/HP_0001974 HP:0001975 biolink:PhenotypicFeature Decreased platelet glycoprotein IIb-IIIa Decreased cell membrane concentration of glycoprotein IIb-IIIa. UMLS:C0040015|MSH:D013915|UMLS:C4021767|SNOMEDCT_US:32942005 hp.json Glanzmann thrombasthenia|Reduced level of platelet glycoprotein IIb/IIIa complex http://purl.obolibrary.org/obo/HP_0001975 HP:0001972 biolink:PhenotypicFeature Macrocytic anemia A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). UMLS:C0002886|MSH:D000748|SNOMEDCT_US:83414005 hp.json Macrocytic anaemia http://purl.obolibrary.org/obo/HP_0001972 HP:0001973 biolink:PhenotypicFeature Autoimmune thrombocytopenia The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. UMLS:C0920163|SNOMEDCT_US:13172003|SNOMEDCT_US:128091003|SNOMEDCT_US:234490009|MSH:D016553|UMLS:C0242584|SNOMEDCT_US:32273002|UMLS:C0398650 hp.json Idiopathic thrombocytopenia|Idiopathic thrombocytopenic purpura|Immune thrombocytopenia http://purl.obolibrary.org/obo/HP_0001973 GO:0099111 biolink:BiologicalProcess microtubule-based transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. hp.json http://purl.obolibrary.org/obo/GO_0099111 GO:0099112 biolink:BiologicalProcess microtubule polymerization based protein transport The transport of a protein driven by polymerization of a microtubule to which it is attached. hp.json http://purl.obolibrary.org/obo/GO_0099112 HP:0001945 biolink:PhenotypicFeature Fever Body temperature elevated above the normal range. SNOMEDCT_US:386661006|UMLS:C0015967|MSH:D005334|SNOMEDCT_US:50177009 hp.json Pyrexia|Fever|Hyperthermia http://purl.obolibrary.org/obo/HP_0001945 HP:0001946 biolink:PhenotypicFeature Ketosis Presence of elevated levels of ketone bodies in the body. UMLS:C0235430|UMLS:C0022638|SNOMEDCT_US:2538008|SNOMEDCT_US:213281004|MSH:D007662 hp.json High levels of ketone bodies|Hyperketosis http://purl.obolibrary.org/obo/HP_0001946 HP:0001943 biolink:PhenotypicFeature Hypoglycemia A decreased concentration of glucose in the blood. UMLS:C0020615|SNOMEDCT_US:237630007|SNOMEDCT_US:302866003|MSH:D007003|SNOMEDCT_US:271327008 hp.json Hypoglycaemia|Low blood sugar http://purl.obolibrary.org/obo/HP_0001943 HP:0001944 biolink:PhenotypicFeature Dehydration SNOMEDCT_US:34095006|MSH:D003681|UMLS:C0011175 hp.json Dehydration|Exsiccosis http://purl.obolibrary.org/obo/HP_0001944 HP:0001949 biolink:PhenotypicFeature Hypokalemic alkalosis SNOMEDCT_US:22774003|UMLS:C0085570 hp.json http://purl.obolibrary.org/obo/HP_0001949 HP:0001947 biolink:PhenotypicFeature Renal tubular acidosis Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. UMLS:C0001126|MSH:D000141|SNOMEDCT_US:1776003 hp.json Accumulation of acid in body due to kidney problem http://purl.obolibrary.org/obo/HP_0001947 HP:0001948 biolink:PhenotypicFeature Alkalosis Depletion of acid or accumulation base in the body fluids. UMLS:C0002063|MSH:D000471|SNOMEDCT_US:21420006 hp.json http://purl.obolibrary.org/obo/HP_0001948 HP:0001941 biolink:PhenotypicFeature Acidosis Abnormal acid accumulation or depletion of base. MSH:D000138|SNOMEDCT_US:51387008|UMLS:C0001122 hp.json http://purl.obolibrary.org/obo/HP_0001941 HP:0001942 biolink:PhenotypicFeature Metabolic acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. MSH:D000138|SNOMEDCT_US:59455009|UMLS:C0220981 hp.json http://purl.obolibrary.org/obo/HP_0001942 GO:0099118 biolink:BiologicalProcess microtubule-based protein transport A microtubule-based process that results in the transport of proteins. hp.json http://purl.obolibrary.org/obo/GO_0099118 GO:0099124 biolink:BiologicalProcess axonal dopamine secretion The regulated release of dopamine from an axon. hp.json axonal dopamine release|axonal DA release http://purl.obolibrary.org/obo/GO_0099124 GO:0099123 biolink:BiologicalProcess somato-dendritic dopamine secretion The regulated release of dopamine from the somatodendritic compartment (cell body or dendrites) of a neuron. hp.json STD dopamine release|somatodendritic dopamine release|STD DA release http://purl.obolibrary.org/obo/GO_0099123 GO:0110043 biolink:BiologicalProcess positive regulation of pharynx morphogenesis Any process that activates or increases the frequency, rate or extent of pharynx morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_0110043 HP:0001956 biolink:PhenotypicFeature Truncal obesity Obesity located preferentially in the trunk of the body as opposed to the extremities. MSH:D056128|SNOMEDCT_US:248311001|UMLS:C0311277 hp.json Truncal obesity|Centripetal obesity http://purl.obolibrary.org/obo/HP_0001956 GO:0110041 biolink:BiologicalProcess regulation of pharynx morphogenesis Any process that modulates the frequency, rate or extent of pharynx morphogenesis, the process in which the anatomical structure of the pharynx is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0110041 GO:0110042 biolink:BiologicalProcess negative regulation of pharynx morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of pharynx morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_0110042 HP:0001954 biolink:PhenotypicFeature Recurrent fever Periodic (episodic or recurrent) bouts of fever. UMLS:C0277799|SNOMEDCT_US:77957000 hp.json Increased body temperature, episodic|Hyperthermia, episodic|Episodic fever|Intermittent fever http://purl.obolibrary.org/obo/HP_0001954 HP:0001955 biolink:PhenotypicFeature Unexplained fevers Episodes of fever for which no infectious cause can be identified. UMLS:C1844662 hp.json Unexplained fevers http://purl.obolibrary.org/obo/HP_0001955 GO:0110040 biolink:BiologicalProcess pharynx morphogenesis The process in which the anatomical structures of the pharynx are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0110040 HP:0001958 biolink:PhenotypicFeature Nonketotic hypoglycemia UMLS:C1865292 hp.json http://purl.obolibrary.org/obo/HP_0001958 HP:0001959 biolink:PhenotypicFeature Polydipsia Excessive thirst manifested by excessive fluid intake. MSH:D059606|UMLS:C0085602|SNOMEDCT_US:267026004|SNOMEDCT_US:17173007 hp.json Extreme thirst http://purl.obolibrary.org/obo/HP_0001959 HP:0001952 biolink:PhenotypicFeature Glucose intolerance Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). UMLS:C0235401 hp.json Glucose intolerance|Abnormal glucose tolerance http://purl.obolibrary.org/obo/HP_0001952 HP:0001953 biolink:PhenotypicFeature Diabetic ketoacidosis A type of diabetic metabolic abnormality with an accumulation of ketone bodies. SNOMEDCT_US:420422005|MSH:D016883|UMLS:C0011880 hp.json Diabetic ketosis http://purl.obolibrary.org/obo/HP_0001953 CHEBI:16742 biolink:ChemicalSubstance orotic acid A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6. PMID:22371390|MetaCyc:OROTATE|PMID:22863860|Wikipedia:Orotic_acid|PDBeChem:ORO|Gmelin:101990|Drug_Central:3402|Beilstein:383901|PMID:22019295|PMID:11059538|PMID:22770225|DrugBank:DB02262|KNApSAcK:C00019689|PMID:7264771|CAS:65-86-1|Reaxys:383901|PMID:22307261|PMID:22634191|HMDB:HMDB0000226|PMID:22707164|KEGG:D00055|KEGG:C00295|CAS:65-86-1|PMID:22285839|CAS:65-86-1 hp.json OROTIC ACID|Uracil-6-carboxylic acid|2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carboxylic acid|Orotsaeure|Orotic acid http://purl.obolibrary.org/obo/CHEBI_16742 3_STAR HP:0001950 biolink:PhenotypicFeature Respiratory alkalosis Alkalosis due to excess loss of carbon dioxide from the body. SNOMEDCT_US:111378004|MSH:D000472|UMLS:C0002064 hp.json http://purl.obolibrary.org/obo/HP_0001950 HP:0001951 biolink:PhenotypicFeature Episodic ammonia intoxication UMLS:C1839541 hp.json http://purl.obolibrary.org/obo/HP_0001951 UBERON:0008397 biolink:AnatomicalEntity tracheobronchial epithelium Epithelium pertaining to the trachea and bronchi. BTO:0002925|CALOHA:TS-1063 hp.json bronchotracheal epithelium http://purl.obolibrary.org/obo/UBERON_0008397 GO:0038187 biolink:MolecularActivity pattern recognition receptor activity Combining with a pathogen-associated molecular pattern (PAMP), a structure conserved among microbial species to initiate an innate immune response. Wikipedia:Pattern_recognition_receptor hp.json MAMP receptor activity|PRR|signaling pattern recognition receptor activity|PAMP receptor activity|PRR activity|pathogen associated molecular pattern receptor activity|macrophage receptor activity|microbe-associated molecular pattern receptor activity http://purl.obolibrary.org/obo/GO_0038187 HP:0011330 biolink:PhenotypicFeature Metopic synostosis Premature fusion of the metopic suture. UMLS:C1860819|UMLS:C0432122|MSH:C562951|MSH:D003398|SNOMEDCT_US:109409003 hp.json Metopic craniosynostosis|Metopic suture craniosynostosis http://purl.obolibrary.org/obo/HP_0011330 hposlim_core HP:0011331 biolink:PhenotypicFeature Hemifacial atrophy Unilateral atrophy of facial tissues, including muscles, bones and skin. SNOMEDCT_US:95834000|SNOMEDCT_US:718224004|MSH:D005150|UMLS:C0015458 hp.json Atrophy of half of face|Atrophy of one side of the face|Facial hemiatrophy http://purl.obolibrary.org/obo/HP_0011331 hposlim_core HP:0011332 biolink:PhenotypicFeature Hemifacial hypoplasia Unilateral underdevelopment of the facial tissues, including muscles and bones. UMLS:C3495417|MSH:D006053|UMLS:C4023411|SNOMEDCT_US:254025006 hp.json Decrease in size of half of face|Hemifacial microsomia|Shrinking of half of face|Decrease in size of one side of the face|Shrinking of one side of the face|Decreased size of half of the face|Decreased size of one side of the face http://purl.obolibrary.org/obo/HP_0011332 HP:0011333 biolink:PhenotypicFeature Asymmetric crying face Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. UMLS:C4280327|UMLS:C0431406|SNOMEDCT_US:51409009|MSH:C535349 hp.json Partial unilateral facial paresis|Hypoplasia of depressor angula oris muscle|Asymmetric crying face http://purl.obolibrary.org/obo/HP_0011333 GO:0099177 biolink:BiologicalProcess regulation of trans-synaptic signaling Any process that modulates the frequency, rate or extent of trans-synaptic signaling. hp.json http://purl.obolibrary.org/obo/GO_0099177 HP:0011334 biolink:PhenotypicFeature Facial shape deformation UMLS:C4021159 hp.json Facial shape compression|Facial shape deformation|Distortion of facial shape http://purl.obolibrary.org/obo/HP_0011334 HP:0011335 biolink:PhenotypicFeature Frontal hirsutism Excessive amount of hair growth on forehead. UMLS:C1839830 hp.json Hairy forehead|Hirsute forehead http://purl.obolibrary.org/obo/HP_0011335 GO:0099175 biolink:BiologicalProcess regulation of postsynapse organization Any process that modulates the physical form of a postsynapse. hp.json regulation of postsynapse organisation|regulation of postsynapse structure|regulation of postsynapse organization and biogenesis http://purl.obolibrary.org/obo/GO_0099175 goslim_synapse HP:0011336 biolink:PhenotypicFeature Bitemporal forceps marks Bilateral temporal scarlike defects, which are said to resemble forceps marks. UMLS:C4023409|UMLS:C4020754 hp.json Congenital, bilateral, scarlike facial lesions|Congenital ectodermal dysplasia of the face|Bitemporal aplasia cutis congenita|Temporal skin defect|Focal facial dermal dysplasia http://purl.obolibrary.org/obo/HP_0011336 GO:0099173 biolink:BiologicalProcess postsynapse organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a postsynapse. hp.json postsynapse organisation|postsynapse organization and biogenesis|postsynapse morphogenesis|postsynapse development http://purl.obolibrary.org/obo/GO_0099173 goslim_synapse GO:0099174 biolink:BiologicalProcess regulation of presynapse organization Any process that modulates the physical form of a presynapse. hp.json regulation of presynapse organisation|regulation of presynapse structure|regulation of presynapse organization and biogenesis http://purl.obolibrary.org/obo/GO_0099174 goslim_synapse GO:0099171 biolink:BiologicalProcess presynaptic modulation of chemical synaptic transmission Any process, acting in the presynapse that results in modulation of chemical synaptic transmission. hp.json http://purl.obolibrary.org/obo/GO_0099171 goslim_synapse GO:0099172 biolink:BiologicalProcess presynapse organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a presynapse. hp.json presynapse development|presynapse organisation|presynapse organization and biogenesis|presynapse morphogenesis http://purl.obolibrary.org/obo/GO_0099172 goslim_synapse GO:0099170 biolink:BiologicalProcess postsynaptic modulation of chemical synaptic transmission Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission. hp.json http://purl.obolibrary.org/obo/GO_0099170 goslim_synapse HP:0410148 biolink:PhenotypicFeature Idiopathic anaphylaxis A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. hp.json http://purl.obolibrary.org/obo/HP_0410148 HP:0410147 biolink:PhenotypicFeature Eosinophilic infiltration in the stomach mucosa Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. hp.json Eosinophilic gastritis http://purl.obolibrary.org/obo/HP_0410147 HP:0410146 biolink:PhenotypicFeature Increased biotinidase level An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. hp.json http://purl.obolibrary.org/obo/HP_0410146 HP:0410145 biolink:PhenotypicFeature Decreased biotinidase level A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. hp.json http://purl.obolibrary.org/obo/HP_0410145 HP:0410149 biolink:PhenotypicFeature Drug-induced anaphylaxis A form of anaphylaxis that is triggered by intake of drugs or medications. hp.json Drug induced anaphylaxis http://purl.obolibrary.org/obo/HP_0410149 HP:0011337 biolink:PhenotypicFeature Abnormality of mouth size UMLS:C4023408 hp.json Anomaly of mouth size|Abnormality of mouth size http://purl.obolibrary.org/obo/HP_0011337 HP:0011338 biolink:PhenotypicFeature Abnormality of mouth shape An abnormality of the outline, configuration, or contour of the mouth. UMLS:C4023407|Fyler:4874 hp.json Unusual mouth shape|Anomaly of mouth shape|Abnormality of mouth shape http://purl.obolibrary.org/obo/HP_0011338 HP:0011339 biolink:PhenotypicFeature Abnormality of upper lip vermillion An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. UMLS:C4023406 hp.json Anomaly of the upper lip vermillion|Abnormality of the red part of the upper lip|Deformity of the upper lip vermillion|Malformation of the upper lip vermillion http://purl.obolibrary.org/obo/HP_0011339 HP:0410144 biolink:PhenotypicFeature Abnormal biotinidase level An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. hp.json http://purl.obolibrary.org/obo/HP_0410144 HP:0011320 biolink:PhenotypicFeature Unilambdoid synostosis Premature synostosis of only one lambdoid suture. UMLS:C4021162 hp.json Unilateral lambdoid suture synostosis|Unilateral lambdoid craniosynostosis http://purl.obolibrary.org/obo/HP_0011320 hposlim_core HP:0011321 biolink:PhenotypicFeature Left unilambdoid synostosis Premature synostosis of only the left lambdoid suture. UMLS:C4023415 hp.json http://purl.obolibrary.org/obo/HP_0011321 HP:0011322 biolink:PhenotypicFeature Right unilambdoid synostosis Premature synostosis of only the right lambdoid suture. UMLS:C4023414 hp.json http://purl.obolibrary.org/obo/HP_0011322 GO:0099188 biolink:BiologicalProcess postsynaptic cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising cytoskeletal filaments and their associated proteins in the postsynaptic cytoskeleton. hp.json http://purl.obolibrary.org/obo/GO_0099188 goslim_synapse HP:0011323 biolink:PhenotypicFeature Cleft of chin Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. UMLS:C1849227 hp.json Cleft of chin|Midline defect of chin http://purl.obolibrary.org/obo/HP_0011323 HP:0011324 biolink:PhenotypicFeature Multiple suture craniosynostosis Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. UMLS:C4021161 hp.json Multisutural craniosynostosis http://purl.obolibrary.org/obo/HP_0011324 GO:0038170 biolink:BiologicalProcess somatostatin signaling pathway A G protein-coupled receptor signaling pathway initiated by somatostatin binding to a somatostatin receptor (SSTR), and ending with the regulation of a downstream cellular process, e.g. transcription. hp.json SST signaling pathway|somatostatin-activated somatostatin receptor signaling pathway|somatostatin signalling pathway|somatotrophin release inhibiting factor signaling pathway|SRIF signaling pathway|somatostatin-mediated signaling pathway http://purl.obolibrary.org/obo/GO_0038170 GO:0099187 biolink:BiologicalProcess presynaptic cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures and their associated proteins in the presynaptic cytoskeleton. hp.json http://purl.obolibrary.org/obo/GO_0099187 HP:0011325 biolink:PhenotypicFeature Pansynostosis Craniosynostosis of all calvarial sutures. UMLS:C4021827 hp.json Sysnostosis of all cranial sutures http://purl.obolibrary.org/obo/HP_0011325 HP:0410137 biolink:PhenotypicFeature Solar urticaria Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light. hp.json http://purl.obolibrary.org/obo/HP_0410137 GO:0038169 biolink:BiologicalProcess somatostatin receptor signaling pathway A G protein-coupled receptor signaling pathway initiated by somatostatin binding to the somatostatin receptor (SSTR) on the surface of a target cell, and ending with the regulation of a downstream cellular process. hp.json SSTR signaling pathway|SST receptor signaling pathway http://purl.obolibrary.org/obo/GO_0038169 HP:0410136 biolink:PhenotypicFeature Aquagenic urticaria A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. hp.json http://purl.obolibrary.org/obo/HP_0410136 HP:0410135 biolink:PhenotypicFeature Cold urticaria Urticaria may be caused by cold temperatures. hp.json http://purl.obolibrary.org/obo/HP_0410135 HP:0410134 biolink:PhenotypicFeature Physical urticaria Urticaria caused by physical agents, such as heat, cold, light, friction. hp.json http://purl.obolibrary.org/obo/HP_0410134 HP:0410139 biolink:PhenotypicFeature Exercise induced anaphylaxis Anaphylaxis after physical activity. hp.json http://purl.obolibrary.org/obo/HP_0410139 HP:0410138 biolink:PhenotypicFeature Vibratory urticaria Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. hp.json http://purl.obolibrary.org/obo/HP_0410138 HP:0011326 biolink:PhenotypicFeature Anterior plagiocephaly Asymmetry of the anterior part of the skull. SNOMEDCT_US:254020001|UMLS:C4280329|UMLS:C4280328|UMLS:C0432124|UMLS:C4280330|UMLS:C4023413 hp.json Positional anterior plagiocephaly|Unicoronal craniosynostosis|Coronal synostosis|Deformational frontal plagiocephaly|Frontal plagiocephaly|Anterior flat head syndrome|Deformational anterior plagiocephaly|Positional frontal plagiocephaly http://purl.obolibrary.org/obo/HP_0011326 HP:0011327 biolink:PhenotypicFeature Posterior plagiocephaly Asymmetry of the posterior part of the skull. UMLS:C4021160 hp.json Occipital plagiocephaly|Deformational posterior plagiocephaly http://purl.obolibrary.org/obo/HP_0011327 HP:0011328 biolink:PhenotypicFeature Abnormality of fontanelles An abnormality of the fontanelle. UMLS:C4020755 hp.json Anomaly of the fontanelles http://purl.obolibrary.org/obo/HP_0011328 hposlim_core HP:0011329 biolink:PhenotypicFeature Abnormality of cranial sutures Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. UMLS:C4023412 hp.json Abnormality of the bregma sutures|Abnormality of cranial sutures|Abnormality of the skull suture|Abnormality of the cranial sutures|Abnormality of the calvarium sutures http://purl.obolibrary.org/obo/HP_0011329 HP:0410133 biolink:PhenotypicFeature Chronic idiopathic urticaria Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. hp.json Chronic spontaneous urticaria|CSU|CIU http://purl.obolibrary.org/obo/HP_0410133 HP:0410132 biolink:PhenotypicFeature Increased level of L-pyroglutamic acid in urine An increase in the level of L-pyroglutamic acid in the urine. hp.json Increased level of 5-oxo-L-proline in urine|Elevated urine 5-oxoproline http://purl.obolibrary.org/obo/HP_0410132 GO:0099157 biolink:BiologicalProcess trans-synaptic signalling via exosome Transynaptic signaling in which the ligand is carried across the synapse by an exosome. hp.json exosome mediated transynaptic signalling http://purl.obolibrary.org/obo/GO_0099157 goslim_synapse HP:0011310 biolink:PhenotypicFeature Bridged palmar crease A crease that connects the proximal and distal transverse palmar creases. UMLS:C4021166 hp.json Transitional palmar crease|Bridged palm line http://purl.obolibrary.org/obo/HP_0011310 HP:0011311 biolink:PhenotypicFeature Sydney crease Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm. UMLS:C4023420 hp.json http://purl.obolibrary.org/obo/HP_0011311 GO:0099156 biolink:BiologicalProcess cell-cell signaling via exosome Cell-cell signaling in which the ligand is carried between cells by an exosome. hp.json exosome mediated http://purl.obolibrary.org/obo/GO_0099156 HP:0011312 biolink:PhenotypicFeature Fused nails A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature. UMLS:C4023419 hp.json Fused nails http://purl.obolibrary.org/obo/HP_0011312 HP:0011313 biolink:PhenotypicFeature Narrow nail Decreased width of nail. UMLS:C4021829 hp.json Narrow nail http://purl.obolibrary.org/obo/HP_0011313 HP:0011314 biolink:PhenotypicFeature Abnormal long bone morphology An abnormality of size or shape of the long bones. UMLS:C4021165 hp.json Abnormal shape of long bone|Abnormality of the tubular bones|Abnormality of long bone morphology http://purl.obolibrary.org/obo/HP_0011314 HP:0001989 biolink:PhenotypicFeature Fetal akinesia sequence Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). SNOMEDCT_US:401138005|MSH:C536647|UMLS:C1276035|UMLS:C3151520 hp.json Fetal akinesia|Foetal akinesia sequence|Foetal akinesia|Early severe foetal akinesia sequence|Early severe fetal akinesia sequence http://purl.obolibrary.org/obo/HP_0001989 hposlim_core HP:0001987 biolink:PhenotypicFeature Hyperammonemia An increased concentration of ammonia in the blood. MSH:D022124|SNOMEDCT_US:9360008|UMLS:C0220994 hp.json High blood ammonia levels http://purl.obolibrary.org/obo/HP_0001987 HP:0001988 biolink:PhenotypicFeature Recurrent hypoglycemia Recurrent episodes of decreased concentration of glucose in the blood. UMLS:C1846288 hp.json hypoglycaemia, recurrent|Recurrent low blood sugar levels|Recurrent hypoglycemic episodes|Recurrent hypoglycaemia|Hypoglycemic episodes|hypoglycemia, recurrent http://purl.obolibrary.org/obo/HP_0001988 HP:0001981 biolink:PhenotypicFeature Schistocytosis The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. SNOMEDCT_US:385472000|UMLS:C0344386 hp.json Schistocytes http://purl.obolibrary.org/obo/HP_0001981 CHEBI:16716 biolink:ChemicalSubstance benzene A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system. PMID:11993966|PMID:18836923|PMID:14677922|CAS:71-43-2|HMDB:HMDB0001505|PMID:18407866|PMID:21325737|PMID:16161967|PMID:15468289|PMID:18072742|PMID:11684179|Beilstein:969212|Wikipedia:Benzene|Reaxys:969212|PDBeChem:BNZ|PMID:12857942|KEGG:C01407|PMID:17373369|CAS:71-43-2|Gmelin:1671|PMID:23222815|PMID:19228219|PMID:23534829|PMID:6353911|UM-BBD_compID:c0142|PMID:23088855|PMID:15935818|PMID:18409691|CAS:71-43-2|PMID:8124204 hp.json Phene|Benzine|Benzene|Benzen|Pyrobenzole|Pyrobenzol|phenyl hydride|BENZENE|benzene|benzene|benzole|Mineral naphtha|Benzol|cyclohexatriene|benzene|Bicarburet of hydrogen|[6]annulene|Coal naphtha http://purl.obolibrary.org/obo/CHEBI_16716 3_STAR HP:0410169 biolink:PhenotypicFeature Abnormal morphology of the shoulder musculature Any abnormality of the shoulder muscles. hp.json Muscle issues in the shoulder|Abnormality of the shoulder musculature http://purl.obolibrary.org/obo/HP_0410169 HP:0001982 biolink:PhenotypicFeature Sea-blue histiocytosis An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa. UMLS:C0036489|MSH:D012618|SNOMEDCT_US:37821003 hp.json Sea-blue histiocyte http://purl.obolibrary.org/obo/HP_0001982 HP:0410168 biolink:PhenotypicFeature Abnormality of the back musculature Any abnormality of the back muscles. hp.json Muscle issues in the back http://purl.obolibrary.org/obo/HP_0410168 HP:0001980 biolink:PhenotypicFeature Megaloblastic bone marrow Abnormal increased number of megaloblasts in the bone marrow. SNOMEDCT_US:167921008|UMLS:C0238801 hp.json http://purl.obolibrary.org/obo/HP_0001980 HP:0410167 biolink:PhenotypicFeature Abnormal morphology of the chest musculature Any abnormality of the chest muscles. hp.json Abnormality of the chest musculature|Muscle issues in the chest http://purl.obolibrary.org/obo/HP_0410167 HP:0001985 biolink:PhenotypicFeature Hypoketotic hypoglycemia A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. UMLS:C1856438 hp.json Hypoglycemia, hypoketotic http://purl.obolibrary.org/obo/HP_0001985 HP:0001986 biolink:PhenotypicFeature Hypertonic dehydration UMLS:C1112601 hp.json Hyperosmolar dehydration http://purl.obolibrary.org/obo/HP_0001986 HP:0001983 biolink:PhenotypicFeature Reduced lymphocyte surface expression of CD43 A reduction in the expression of CD43 on the cell surface of lymphocytes. UMLS:C4021766 hp.json Reduced lymphocyte surface expression of sialophorin|Cd43 defectively expressed on surface of blood cells http://purl.obolibrary.org/obo/HP_0001983 HP:0001984 biolink:PhenotypicFeature Intolerance to protein UMLS:C1396243 hp.json http://purl.obolibrary.org/obo/HP_0001984 HP:0011315 biolink:PhenotypicFeature Unicoronal synostosis Synostosis affecting only one of the coronal sutures. UMLS:C4023418|UMLS:C4020756 hp.json Unilateral coronal suture synostosis|Unilateral coronal craniosynostosis|Unilateral coronal suture craniosynostosis http://purl.obolibrary.org/obo/HP_0011315 HP:0011316 biolink:PhenotypicFeature Left unicoronal synostosis Synostosis affecting only the left coronal suture. UMLS:C4023417 hp.json http://purl.obolibrary.org/obo/HP_0011316 HP:0011317 biolink:PhenotypicFeature Right unicoronal synostosis Unicoronal synostosis affecting only the right coronal suture. UMLS:C4023416 hp.json http://purl.obolibrary.org/obo/HP_0011317 HP:0011318 biolink:PhenotypicFeature Bicoronal synostosis Synostosis affecting the right and the left coronal suture. UMLS:C4021164 hp.json Bilateral coronal craniosynostosis|Bilateral coronal suture craniosynostosis|Bilateral coronal suture synostosis http://purl.obolibrary.org/obo/HP_0011318 hposlim_core HP:0011319 biolink:PhenotypicFeature Bilambdoid synostosis Premature synostosis of both lambdoid sutures. UMLS:C4021163 hp.json Bilateral lambdoid craniosynostosis|Bilateral lambdoid suture synostosis http://purl.obolibrary.org/obo/HP_0011319 hposlim_core HP:0410166 biolink:PhenotypicFeature Defective interstrand cross-link repair A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. hp.json http://purl.obolibrary.org/obo/HP_0410166 HP:0011300 biolink:PhenotypicFeature Broad fingertip Increased width of the distal segment of a finger. UMLS:C1968816 hp.json Broad fingertips|Broad fingertip http://purl.obolibrary.org/obo/HP_0011300 hposlim_core HP:0011301 biolink:PhenotypicFeature Absent foot The total absence of the foot, with no bony elements distal to the tibia or fibula. UMLS:C0265624|SNOMEDCT_US:371197005 hp.json Aplasia of the foot|Absent foot|Apodia http://purl.obolibrary.org/obo/HP_0011301 hposlim_core HP:0011302 biolink:PhenotypicFeature Long palm For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. UMLS:C4023422 hp.json Long palm http://purl.obolibrary.org/obo/HP_0011302 hposlim_core HP:0011303 biolink:PhenotypicFeature Convex contour of sole The contour of the foot in lateral profile has a convex shape. UMLS:C4023421 hp.json http://purl.obolibrary.org/obo/HP_0011303 HP:0001998 biolink:PhenotypicFeature Neonatal hypoglycemia UMLS:C0158986|SNOMEDCT_US:52767006 hp.json Low blood sugar in newborn http://purl.obolibrary.org/obo/HP_0001998 HP:0001999 biolink:PhenotypicFeature Abnormal facial shape An abnormal morphology (form) of the face or its components. SNOMEDCT_US:398302004|UMLS:C0424503|UMLS:C4072833|SNOMEDCT_US:32003007|UMLS:C1385263|UMLS:C4072832|SNOMEDCT_US:398206004|SNOMEDCT_US:248200007|UMLS:C0266617 hp.json Facial dysmorphism|Abnormal facial shape|Deformity of face|Malformation of face|Unusual facial appearance|Distortion of face|Unusual facies|Dysmorphic facial features|Dysmorphic facies|Distinctive facies|Funny looking face|Abnormal morphology of the face http://purl.obolibrary.org/obo/HP_0001999 hposlim_core CHEBI:16708 biolink:ChemicalSubstance adenine The parent compound of the 6-aminopurines, composed of a purine having an amino group at C-6. PMID:12829005|MetaCyc:ADENINE|KEGG:C00147|Wikipedia:Adenine|DrugBank:DB00173|Drug_Central:89|Gmelin:3903|Beilstein:608603|PMID:15715490|Reaxys:608603|KEGG:D00034|PMID:17439666|PDBeChem:ADE|PMID:12951489|KNApSAcK:C00001490|CAS:73-24-5|PMID:15063338|PMID:11985597|PMID:8070089|HMDB:HMDB0000034|CAS:73-24-5|CAS:73-24-5 hp.json ADENINE|Ade|Adenin|adenine|9H-purin-6-amine|A|6-Aminopurine|Adenine http://purl.obolibrary.org/obo/CHEBI_16708 3_STAR HP:0001992 biolink:PhenotypicFeature Organic aciduria Excretion of non-amino organic acids in urine. UMLS:C0241775 hp.json http://purl.obolibrary.org/obo/HP_0001992 HP:0001993 biolink:PhenotypicFeature Ketoacidosis Acidosis resulting from accumulation of ketone bodies. UMLS:C0220982|SNOMEDCT_US:56051008 hp.json http://purl.obolibrary.org/obo/HP_0001993 HP:0410158 biolink:PhenotypicFeature obsolete Increased urine O-phosphoethanolamine level hp.json Increased level of O-phosphoethanolamine in urine http://purl.obolibrary.org/obo/HP_0410158 HP:0410157 biolink:PhenotypicFeature Increased level of N-acetylneuraminic acid in fibroblasts An increase in the level of N-acetylneuraminic acid in cultured fibroblasts. hp.json Increased level of sialic acid in fibroblasts|Increased level of NANA in fibroblasts|Increased level of Neu5Ac in fibroblasts http://purl.obolibrary.org/obo/HP_0410157 HP:0410156 biolink:PhenotypicFeature Increased level of N-acetylneuraminic acid in urine An increase in the level of N-acetylneuraminic acid in the urine. hp.json Increased level of NANA in urine|Increased level of Neu5Ac in urine http://purl.obolibrary.org/obo/HP_0410156 HP:0001991 biolink:PhenotypicFeature Aplasia/Hypoplasia of toe Absence or hypoplasia of toes. UMLS:C3551148 hp.json Absent/hypoplastic toes|Absent/small toe|Aplastic/hypoplastic toe phalanges|Absent/underdeveloped toe http://purl.obolibrary.org/obo/HP_0001991 HP:0001996 biolink:PhenotypicFeature Chronic metabolic acidosis Longstanding metabolic acidosis. UMLS:C0740749 hp.json http://purl.obolibrary.org/obo/HP_0001996 HP:0001997 biolink:PhenotypicFeature Gout Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. SNOMEDCT_US:190828008|SNOMEDCT_US:48440001|MSH:D015210|SNOMEDCT_US:90560007|SNOMEDCT_US:170733007|MSH:D006073|UMLS:C0018099|UMLS:C0003868 hp.json Gouty arthritis http://purl.obolibrary.org/obo/HP_0001997 HP:0001994 biolink:PhenotypicFeature Renal Fanconi syndrome An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. SNOMEDCT_US:44673006|MSH:D005198|UMLS:C0341703|SNOMEDCT_US:236468006 hp.json Renal tubular fanconi syndrome|De toni-fanconi-debre syndrome http://purl.obolibrary.org/obo/HP_0001994 HP:0001995 biolink:PhenotypicFeature Hyperchloremic acidosis Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. SNOMEDCT_US:18104000|UMLS:C0085569 hp.json http://purl.obolibrary.org/obo/HP_0001995 HP:0011304 biolink:PhenotypicFeature Broad thumb Increased thumb width without increased dorso-ventral dimension. SNOMEDCT_US:249773003|UMLS:C0426891 hp.json Wide/broad thumb|Wide/broad thumb phalanges|Broad thumbs|Broad thumb|Broad phalanges of the thumb http://purl.obolibrary.org/obo/HP_0011304 hposlim_core HP:0410151 biolink:PhenotypicFeature Eosinophilic infiltration of the esophagus Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. hp.json Eosinophilic infiltration of the oesophagus|Eosinophilic esophagitis http://purl.obolibrary.org/obo/HP_0410151 HP:0011305 biolink:PhenotypicFeature Partial absence of toe The absence of a phalangeal segment of a toe or hallux. UMLS:C4021169 hp.json Partial absence of toe|Hypophalangy of toes http://purl.obolibrary.org/obo/HP_0011305 HP:0011307 biolink:PhenotypicFeature Splayed toes Divergence of digits along the anteroposterior axis (in the plane of the sole). UMLS:C2117390 hp.json Splayed toes http://purl.obolibrary.org/obo/HP_0011307 HP:0011308 biolink:PhenotypicFeature Slender toe Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. UMLS:C4021168 hp.json Slender toe|Narrow toe http://purl.obolibrary.org/obo/HP_0011308 HP:0410154 biolink:PhenotypicFeature Increased level of myristic acid in serum An increase in the level of myristic acid in the serum. hp.json Increased level of tetradecanoic acid in serum http://purl.obolibrary.org/obo/HP_0410154 HP:0011309 biolink:PhenotypicFeature Tapered toe The gradual reduction in girth of the toe from proximal to distal. UMLS:C4021167 hp.json Tapered toe|Tapering toes http://purl.obolibrary.org/obo/HP_0011309 HP:0410153 biolink:PhenotypicFeature Increased level of methylsuccinic acid in urine An increase in the level of methylsuccinic acid in the urine. hp.json Increased level of pyrotartaric acid in urine http://purl.obolibrary.org/obo/HP_0410153 HP:0410152 biolink:PhenotypicFeature Eosinophilic microabscess formation in the esophagus The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques. hp.json Eosinophilic microabscess formation in the oesophagus|Eosinophilic micro-abscess formation in the esophagus|Eosinophilic micro-abscess formation in the oesophagus http://purl.obolibrary.org/obo/HP_0410152 HP:0410191 biolink:PhenotypicFeature Increased glucose-6-phosphate dehydrogenase level in leukocytes An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes. hp.json Increased G6PD level in leukocytes http://purl.obolibrary.org/obo/HP_0410191 HP:0410190 biolink:PhenotypicFeature Decreased glucose-6-phosphate dehydrogenase level in leukocytes A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes. hp.json Decreased G6PD level in leukocytes http://purl.obolibrary.org/obo/HP_0410190 GO:1905521 biolink:BiologicalProcess regulation of macrophage migration Any process that modulates the frequency, rate or extent of macrophage migration. hp.json http://purl.obolibrary.org/obo/GO_1905521 GO:1905522 biolink:BiologicalProcess negative regulation of macrophage migration Any process that stops, prevents or reduces the frequency, rate or extent of macrophage migration. hp.json down regulation of macrophage migration|inhibition of macrophage migration|down-regulation of macrophage migration|downregulation of macrophage migration http://purl.obolibrary.org/obo/GO_1905522 GO:1905523 biolink:BiologicalProcess positive regulation of macrophage migration Any process that activates or increases the frequency, rate or extent of macrophage migration. hp.json upregulation of macrophage migration|up regulation of macrophage migration|up-regulation of macrophage migration|activation of macrophage migration http://purl.obolibrary.org/obo/GO_1905523 HP:0410189 biolink:PhenotypicFeature Increased glucose-6-phosphate dehydrogenase level in red blood cells An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells. hp.json Increased G6PD level in red blood cells|Increased G6PD level in RBCs http://purl.obolibrary.org/obo/HP_0410189 UBERON:0035956 biolink:AnatomicalEntity epididymal lumen The lumen of the epididymis. FMA:18274 hp.json lumen of epididymis|epididymis lumen http://purl.obolibrary.org/obo/UBERON_0035956 HP:0410184 biolink:PhenotypicFeature Abnormal glucose-6-phosphate dehydrogenase level in red blood cells An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells. hp.json Abnormal G6PD level in RBCs|Abnormal G6PD level in red blood cells http://purl.obolibrary.org/obo/HP_0410184 HP:0410183 biolink:PhenotypicFeature Abnormal glucose-6-phosphate dehydrogenase level in leukocytes An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes. hp.json Abnormal G6PD level in leukocytes http://purl.obolibrary.org/obo/HP_0410183 UBERON:0008340 biolink:AnatomicalEntity nasal bridge A saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canth[WP]. MA:0002874 hp.json http://purl.obolibrary.org/obo/UBERON_0008340 pheno_slim HP:0410182 biolink:PhenotypicFeature Decreased glucose-6-phosphate dehydrogenase level in dried blood spot A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. hp.json Decreased G6PD level in dried blood spot|Decreased glucose-6-phosphate dehydrogenase level in DBS http://purl.obolibrary.org/obo/HP_0410182 UBERON:0008341 biolink:AnatomicalEntity columella nasi The tissue that links the nasal tip to the nasal base, and separates the nares. It is the inferior margin of the nasal septum[EoM]. EMAPA:37832|FMA:59725 hp.json columella of nose|nasal columella|columella http://purl.obolibrary.org/obo/UBERON_0008341 pheno_slim HP:0410181 biolink:PhenotypicFeature Increased glucose-6-phosphate dehydrogenase level in dried blood spot An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. hp.json Increased glucose-6-phosphate dehydrogenase level in DBS|Increased G6PD level in dried blood spot http://purl.obolibrary.org/obo/HP_0410181 UBERON:0008342 biolink:AnatomicalEntity intestinal villus of duodenum An intestinal villus in the duodenum. FMA:63300 hp.json http://purl.obolibrary.org/obo/UBERON_0008342 HP:0410188 biolink:PhenotypicFeature Decreased glucose-6-phosphate dehydrogenase level in red blood cells A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells. hp.json Decreased G6PD level in RBCs|Decreased G6PD level in red blood cells http://purl.obolibrary.org/obo/HP_0410188 UBERON:0008343 biolink:AnatomicalEntity intestinal villus of jejunum An intestinal villus in the jejunum. FMA:63301 hp.json http://purl.obolibrary.org/obo/UBERON_0008343 HP:0410187 biolink:PhenotypicFeature Decreased glucose-6-phosphate dehydrogenase level in tissue A decrease in the level of glucose-6-phosphate dehydrogenase in tissue. hp.json Decreased G6PD level in tissue http://purl.obolibrary.org/obo/HP_0410187 UBERON:0008344 biolink:AnatomicalEntity intestinal villus of ileum An intestinal villus in the ileum. FMA:63302 hp.json http://purl.obolibrary.org/obo/UBERON_0008344 UBERON:0008345 biolink:AnatomicalEntity ileal epithelium An epithelium that is part of a ileum. EMAPA:35423|MA:0003217|FMA:17233 hp.json epithelium of ileum http://purl.obolibrary.org/obo/UBERON_0008345 HP:0410186 biolink:PhenotypicFeature Increased glucose-6-phosphate dehydrogenase level in tissue An increase in the level of glucose-6-phosphate dehydrogenase in tissue. hp.json Increased G6PD level in tissue http://purl.obolibrary.org/obo/HP_0410186 UBERON:0008346 biolink:AnatomicalEntity duodenal epithelium An epithelium that is part of a duodenum. MA:0003208|CALOHA:TS-2087|FMA:17231|EMAPA:19078 hp.json epithelium of duodenum http://purl.obolibrary.org/obo/UBERON_0008346 human_reference_atlas HP:0410185 biolink:PhenotypicFeature Abnormal glucose-6-phosphate dehydrogenase level in tissue An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue. hp.json Abnormal G6PD level in tissue http://purl.obolibrary.org/obo/HP_0410185 HP:0410180 biolink:PhenotypicFeature Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. hp.json Abnormal G6PD level in dried blood spot|Abnormal glucose-6-phosphate dehydrogenase level in DBS http://purl.obolibrary.org/obo/HP_0410180 GO:0051128 biolink:BiologicalProcess regulation of cellular component organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. hp.json regulation of cell organization|regulation of cellular component organisation|regulation of cell organisation|regulation of cellular component organization and biogenesis http://purl.obolibrary.org/obo/GO_0051128 GO:0051129 biolink:BiologicalProcess negative regulation of cellular component organization Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. hp.json down-regulation of cell organization|negative regulation of cellular component organization and biogenesis|negative regulation of cell organisation|down regulation of cell organization|inhibition of cell organization|downregulation of cell organization http://purl.obolibrary.org/obo/GO_0051129 UBERON:0011980 biolink:AnatomicalEntity crurotarsal joint A joint that connects the bones of the crus to the proximal tarsal bones. hp.json crurotarsal http://purl.obolibrary.org/obo/UBERON_0011980 CHEBI:26155 biolink:ChemicalSubstance plant growth regulator A chemical, natural or artificial, that can affect the rate of growth of a plant. hp.json plant growth regulators http://purl.obolibrary.org/obo/CHEBI_26155 3_STAR UBERON:0011977 biolink:AnatomicalEntity epiphysis of proximal phalanx of manus An epiphysis that is part of a proximal phalanx of manus. hp.json epiphysis of proximal phalanx of finger http://purl.obolibrary.org/obo/UBERON_0011977 pheno_slim UBERON:0011976 biolink:AnatomicalEntity epiphysis of distal phalanx of pes An epiphysis that is part of a distal phalanx of pes. hp.json epiphysis of distal phalanx of toe http://purl.obolibrary.org/obo/UBERON_0011976 UBERON:0035965 biolink:AnatomicalEntity wall of blood vessel FMA:67473|EMAPA:37987|BTO:0004378 hp.json blood vessel wall|vascular wall http://purl.obolibrary.org/obo/UBERON_0035965 HP:0410179 biolink:PhenotypicFeature Decreased glucose-6-phosphate dehydrogenase level in blood A decrease in the level of glucose-6-phosphate dehydrogenase in the blood. hp.json Decreased G6PD level in blood http://purl.obolibrary.org/obo/HP_0410179 UBERON:0008338 biolink:AnatomicalEntity plantar part of pes The sole is the bottom of the foot. galen:SoleOfFoot|CALOHA:TS-0379|UMLS:C0230463|BTO:0005078|NCIT:C33326|FMA:25000 hp.json regio plantaris|sole|soles of the feet|plantar part of foot|sole of foot|planta|planta|sole of foot|sole of the foot|pelma|plantar region http://purl.obolibrary.org/obo/UBERON_0008338 pheno_slim UBERON:0011975 biolink:AnatomicalEntity epiphysis of middle phalanx of pes An epiphysis that is part of a middle phalanx of pes. hp.json epiphysis of middle phalanx of toe http://purl.obolibrary.org/obo/UBERON_0011975 HP:0410178 biolink:PhenotypicFeature Increased glucose-6-phosphate dehydrogenase level in blood An increase in the level of glucose-6-phosphate dehydrogenase in the blood. hp.json Increased G6PD level in blood http://purl.obolibrary.org/obo/HP_0410178 UBERON:0008339 biolink:AnatomicalEntity microvascular endothelium BTO:0003122 hp.json http://purl.obolibrary.org/obo/UBERON_0008339 UBERON:0011974 biolink:AnatomicalEntity epiphysis of proximal phalanx of pes An epiphysis that is part of a proximal phalanx of pes. hp.json epiphysis of proximal phalanx of toe http://purl.obolibrary.org/obo/UBERON_0011974 UBERON:0011979 biolink:AnatomicalEntity epiphysis of distal phalanx of manus An epiphysis that is part of a distal phalanx of manus. FMA:321561 hp.json epiphysis of distal phalanx of finger http://purl.obolibrary.org/obo/UBERON_0011979 UBERON:0011978 biolink:AnatomicalEntity epiphysis of middle phalanx of manus An epiphysis that is part of a middle phalanx of manus. hp.json epiphysis of middle phalanx of finger http://purl.obolibrary.org/obo/UBERON_0011978 HP:0410173 biolink:PhenotypicFeature Increased circulating troponin I concentration An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. hp.json Increased troponin I level in blood http://purl.obolibrary.org/obo/HP_0410173 HP:0410172 biolink:PhenotypicFeature Blood xenobiotic The presence of a xenobiotic in blood. hp.json http://purl.obolibrary.org/obo/HP_0410172 HP:0410171 biolink:PhenotypicFeature Increased cotinine level Increased concentration of cotinine in urine. hp.json http://purl.obolibrary.org/obo/HP_0410171 UBERON:0008331 biolink:AnatomicalEntity clitoral smooth muscle A smooth muscle tissue that is part of a clitoris. BTO:0005000 hp.json clitoris smooth muscle http://purl.obolibrary.org/obo/UBERON_0008331 HP:0410170 biolink:PhenotypicFeature Hippocampal atrophy Partial or complete wasting (loss) of hippocampus tissue that was once present. hp.json Atrophy of the hippocampus|Degeneration of the hippocampus http://purl.obolibrary.org/obo/HP_0410170 HP:0410177 biolink:PhenotypicFeature Abnormal glucose-6-phosphate dehydrogenase level in blood An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood. hp.json Abnormal G6PD level in blood http://purl.obolibrary.org/obo/HP_0410177 HP:0410176 biolink:PhenotypicFeature Abnormal glucose-6-phosphate dehydrogenase level An anomaly in the level of glucose-6-phosphate dehydrogenase. hp.json Abnormal G6PD level http://purl.obolibrary.org/obo/HP_0410176 HP:0410175 biolink:PhenotypicFeature Hyperketonemia An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. hp.json Increased level of ketone bodies in blood|Elevated circulating ketone body concentration|Ketonemia http://purl.obolibrary.org/obo/HP_0410175 HP:0410174 biolink:PhenotypicFeature Increased circulating troponin T concentration An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. hp.json Increased troponin T level in blood http://purl.obolibrary.org/obo/HP_0410174 CHEBI:28789 biolink:ChemicalSubstance L-glucitol The L-enantiomer of glucitol. Reaxys:1721906|Beilstein:1721906|CAS:6706-59-8|YMDB:YMDB00724|CAS:6706-59-8|MetaCyc:CPD-12810|Gmelin:648560|ECMDB:ECMDB00247|PMID:19695255|KEGG:C01722 hp.json L-glucitol|D-gulitol|L-Sorbitol|(2R,3S,4S,5S)-hexane-1,2,3,4,5,6-hexol|L-Glucitol|L-sorbitol|D-Gulitol|L-glucitol|L-glucitol http://purl.obolibrary.org/obo/CHEBI_28789 3_STAR UBERON:0011973 biolink:AnatomicalEntity epiphysis of phalanx of pes An epiphysis that is part of a phalanx of a pes [Automatically generated definition]. hp.json epiphysis of phalanx of toe http://purl.obolibrary.org/obo/UBERON_0011973 UBERON:0011972 biolink:AnatomicalEntity medial ligament of ankle joint A skeletal ligament that connects a tibia and connects a tarsal skeleton. FMA:44055 hp.json ligamentum deltoideum (articulatio talocruralis)|deltoid collateral ligament of ankle joint|ligamentum collaterale mediale (articulatio talocruralis)|deltoid ligament of ankle joint|ligamentum collaterale mediale articulationis talocruralis|medial collateral ligament of ankle joint|ligamentum deltoideum http://purl.obolibrary.org/obo/UBERON_0011972 UBERON:0011971 biolink:AnatomicalEntity calcaneofibular ligament A skeletal ligament that connects the fibula to the calcaneus. FMA:44089 hp.json ligamentum calcaneofibulare http://purl.obolibrary.org/obo/UBERON_0011971 GO:1905553 biolink:BiologicalProcess regulation of blood vessel branching Any process that modulates the frequency, rate or extent of blood vessel branching. hp.json regulation of branching involved in blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_1905553 UBERON:0011970 biolink:AnatomicalEntity talofibular ligament A skeletal ligament that connects the fibula to the talus. Examples: anterior and posterior talofibular ligament. FMA:44080 hp.json talo-fibular ligament|ligamentum talofibulare http://purl.obolibrary.org/obo/UBERON_0011970 UBERON:0011965 biolink:AnatomicalEntity saddle joint In a saddle joint (sellar joint, articulation by reciprocal reception) the opposing surfaces are reciprocally concave-convex. FMA:75298 hp.json articulation by reciprocal reception|sellar joint http://purl.obolibrary.org/obo/UBERON_0011965 UBERON:0011964 biolink:AnatomicalEntity calcaneocuboid joint Calcaneocuboid Articulation (articulation of the calcaneus with the cuboid). The ligaments connecting the calcaneus with the cuboid are five in number, viz. , the articular capsule, the dorsal calcaneocuboid, part of the bifurcated, the long plantar, and the plantar calcaneocuboid. FMA:35207 hp.json calcaneocuboid articulation|articulatio calcaneocubiodea|calcaneocuboidal joint http://purl.obolibrary.org/obo/UBERON_0011964 UBERON:0011963 biolink:AnatomicalEntity talocalcaneonavicular joint The talocalcaneonavicular articulation is an arthrodial joint: the rounded head of the talus being received into the concavity formed by the posterior surface of the navicular, the anterior articular surface of the calcaneus, and the upper surface of the plantar calcaneonavicular ligament. There are two ligaments in this joint: the articular capsule and the dorsal talonavicular. FMA:35204 hp.json talocalcaneonavicular articulation|articulatio talocalcaneonavicularis http://purl.obolibrary.org/obo/UBERON_0011963 CHEBI:38104 biolink:ChemicalSubstance oxacycle Any organic heterocyclic compound containing at least one ring oxygen atom. PMID:17134300 hp.json organooxygen heterocyclic compounds|oxacycles|heterocyclic organooxygen compounds http://purl.obolibrary.org/obo/CHEBI_38104 3_STAR UBERON:0011969 biolink:AnatomicalEntity mesotarsal joint An ankle joint that passes between the proximal and distal tarsals. hp.json http://purl.obolibrary.org/obo/UBERON_0011969 UBERON:0011968 biolink:AnatomicalEntity radio-carpal joint A skeletal joint that connects a radius bone and connects a carpal skeleton. EMAPA:19205|MA:0000461|FMA:35291 hp.json wrist joint|radiocarpal articulation|radiocarpal joint|articulatio radiocarpea http://purl.obolibrary.org/obo/UBERON_0011968 GO:0051130 biolink:BiologicalProcess positive regulation of cellular component organization Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. hp.json positive regulation of cellular component organization and biogenesis|positive regulation of cell organisation|up-regulation of cell organization|up regulation of cell organization|activation of cell organization|stimulation of cell organization|upregulation of cell organization http://purl.obolibrary.org/obo/GO_0051130 UBERON:0008320 biolink:AnatomicalEntity common penile artery The artery that serves blood to the penis. It subdivides into three arteries, the bulbourethral artery, the dorsal artery of the penis and the cavernosal artery. BTO:0005085|FMA:66318 hp.json artery of penis|penile artery http://purl.obolibrary.org/obo/UBERON_0008320 human_reference_atlas UBERON:0008321 biolink:AnatomicalEntity deep artery of penis The deep artery of the penis (artery to the corpus cavernosum), one of the terminal branches of the internal pudendal, arises from that vessel while it is situated between the two fascia of the urogenital diaphragm (deep perineal pouch). It pierces the inferior fascia, and, entering the crus penis obliquely, runs forward in the center of the corpus cavernosum penis, to which its branches are distributed. BTO:0005086|FMA:19794 hp.json arteria profunda penis|deep penile artery|cavernosal artery|arteria cavernosa penis|arteria profunda penis http://purl.obolibrary.org/obo/UBERON_0008321 UBERON:0008322 biolink:AnatomicalEntity deep artery of clitoris The deep artery of clitoris is a branch of the internal pudendal artery. FMA:20870 hp.json arteria profunda clitoridis http://purl.obolibrary.org/obo/UBERON_0008322 human_reference_atlas CHEBI:38101 biolink:ChemicalSubstance organonitrogen heterocyclic compound Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms. hp.json heterocyclic organonitrogen compounds|organonitrogen heterocyclic compounds http://purl.obolibrary.org/obo/CHEBI_38101 3_STAR UBERON:0008324 biolink:AnatomicalEntity erectile tissue With numerous vascular spaces that may become engorged with blood. hp.json http://purl.obolibrary.org/obo/UBERON_0008324 GO:0051148 biolink:BiologicalProcess negative regulation of muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation. hp.json inhibition of muscle cell differentiation|downregulation of muscle cell differentiation|down-regulation of muscle cell differentiation|down regulation of muscle cell differentiation http://purl.obolibrary.org/obo/GO_0051148 GO:0051149 biolink:BiologicalProcess positive regulation of muscle cell differentiation Any process that activates or increases the frequency, rate or extent of muscle cell differentiation. hp.json up-regulation of muscle cell differentiation|up regulation of muscle cell differentiation|activation of muscle cell differentiation|stimulation of muscle cell differentiation|upregulation of muscle cell differentiation http://purl.obolibrary.org/obo/GO_0051149 GO:0051146 biolink:BiologicalProcess striated muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle. hp.json voluntary muscle cell differentiation http://purl.obolibrary.org/obo/GO_0051146 GO:0051147 biolink:BiologicalProcess regulation of muscle cell differentiation Any process that modulates the frequency, rate or extent of muscle cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0051147 UBERON:0011962 biolink:AnatomicalEntity transverse tarsal joint The transverse tarsal joint is formed by the articulation of the calcaneus with the cuboid, and the articulation of the talus with the navicular. The movement which takes place in this joint is more extensive than that in the other tarsal joints, and consists of a sort of rotation by means of which the foot may be slightly flexed or extended, the sole being at the same time carried medially (inverted) or laterally. FMA:35201|NCIT:C102354 hp.json chopart's joint|articulatio tarsi transversa|midtarsal joint http://purl.obolibrary.org/obo/UBERON_0011962 CHEBI:28790 biolink:ChemicalSubstance serotonin A primary amino compound that is the 5-hydroxy derivative of tryptamine. HMDB:HMDB0000259|KEGG:C00780|Beilstein:143524|KNApSAcK:C00001429|PDBeChem:SRO|Reaxys:143524|CAS:50-67-9|Gmelin:1861995|CAS:50-67-9|MetaCyc:SEROTONIN|Wikipedia:Serotonin|PMID:22770225|PMID:24136337|LINCS:LSM-6589|PMID:18593914 hp.json 5-HT|Serotonin|5-Hydroxytryptamine|thrombotonin|Enteramine|3-(2-aminoethyl)-1H-indol-5-ol|SEROTONIN|thrombocytin|serotonine|3-(2-Aminoethyl)-1H-indol-5-ol http://purl.obolibrary.org/obo/CHEBI_28790 3_STAR GO:1905562 biolink:BiologicalProcess regulation of vascular endothelial cell proliferation Any process that modulates the frequency, rate or extent of vascular endothelial cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_1905562 UBERON:0011961 biolink:AnatomicalEntity articular capsule of hip joint An articular capsule that is part of the hip joint. FMA:42821 hp.json capsule of hip joint|fibrous capsule of hip joint|capsula articularis coxae http://purl.obolibrary.org/obo/UBERON_0011961 GO:1905563 biolink:BiologicalProcess negative regulation of vascular endothelial cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of vascular endothelial cell proliferation. hp.json inhibition of vascular endothelial cell proliferation|downregulation of vascular endothelial cell proliferation|down-regulation of vascular endothelial cell proliferation|down regulation of vascular endothelial cell proliferation http://purl.obolibrary.org/obo/GO_1905563 UBERON:0011960 biolink:AnatomicalEntity articular capsule of glenohumeral joint An articular capsule that is part of the glenohumeral joint. FMA:34944 hp.json glenohumeral joint capsule|articular capsule of humerus|fibrous capsule of glenohumeral joint|capsule of shoulder joint|articular capsule of shoulder joint http://purl.obolibrary.org/obo/UBERON_0011960 GO:1905564 biolink:BiologicalProcess positive regulation of vascular endothelial cell proliferation Any process that activates or increases the frequency, rate or extent of vascular endothelial cell proliferation. hp.json up-regulation of vascular endothelial cell proliferation|up regulation of vascular endothelial cell proliferation|activation of vascular endothelial cell proliferation|upregulation of vascular endothelial cell proliferation http://purl.obolibrary.org/obo/GO_1905564 UBERON:0011955 biolink:AnatomicalEntity left hepatic vein A hepatic vein that is part of a left lobe of liver. MA:0003032|FMA:14339|EMAPA:37164 hp.json http://purl.obolibrary.org/obo/UBERON_0011955 human_reference_atlas GO:1905554 biolink:BiologicalProcess negative regulation of vessel branching Any process that stops, prevents or reduces the frequency, rate or extent of blood vessel branching. hp.json downregulation of branching involved in blood vessel morphogenesis|down regulation of branching involved in blood vessel morphogenesis|down-regulation of patterning of blood vessels|inhibition of branching involved in blood vessel morphogenesis|negative regulation of branching involved in blood vessel morphogenesis|down-regulation of branching involved in blood vessel morphogenesis|down regulation of patterning of blood vessels|downregulation of patterning of blood vessels|inhibition of patterning of blood vessels http://purl.obolibrary.org/obo/GO_1905554 GO:0090713 biolink:NamedThing immunological memory process hp.json http://purl.obolibrary.org/obo/GO_0090713 GO:1905555 biolink:BiologicalProcess positive regulation of blood vessel branching Any process that activates or increases the frequency, rate or extent of blood vessel branching. hp.json up regulation of patterning of blood vessels|up-regulation of branching involved in blood vessel morphogenesis|activation of branching involved in blood vessel morphogenesis|activation of patterning of blood vessels|upregulation of patterning of blood vessels|upregulation of branching involved in blood vessel morphogenesis|positive regulation of branching involved in blood vessel morphogenesis|up-regulation of patterning of blood vessels|up regulation of branching involved in blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_1905555 UBERON:0011953 biolink:AnatomicalEntity stomach glandular region A region of the stomach that is lined with glandular epithelium. UMLS:C0227197|MA:0001613|EMAPA:17623|SCTID:27633001|NCIT:C77661 hp.json glandular stomach http://purl.obolibrary.org/obo/UBERON_0011953 pheno_slim GO:1905557 biolink:BiologicalProcess regulation of mitotic nuclear envelope disassembly Any process that modulates the frequency, rate or extent of mitotic nuclear envelope disassembly. hp.json regulation of mitotic nuclear envelope breakdown|regulation of mitotic nuclear envelope degradation|regulation of mitotic nuclear envelope catabolism http://purl.obolibrary.org/obo/GO_1905557 GO:1905558 biolink:BiologicalProcess negative regulation of mitotic nuclear envelope disassembly Any process that stops, prevents or reduces the frequency, rate or extent of mitotic nuclear envelope disassembly. hp.json inhibition of mitotic nuclear envelope catabolism|down regulation of mitotic nuclear envelope disassembly|negative regulation of mitotic nuclear envelope degradation|inhibition of mitotic nuclear envelope disassembly|downregulation of mitotic nuclear envelope catabolism|down-regulation of mitotic nuclear envelope degradation|down regulation of mitotic nuclear envelope breakdown|down-regulation of mitotic nuclear envelope disassembly|inhibition of mitotic nuclear envelope breakdown|down-regulation of mitotic nuclear envelope breakdown|negative regulation of mitotic nuclear envelope breakdown|negative regulation of mitotic nuclear envelope catabolism|downregulation of mitotic nuclear envelope degradation|down-regulation of mitotic nuclear envelope catabolism|downregulation of mitotic nuclear envelope disassembly|down regulation of mitotic nuclear envelope catabolism|down regulation of mitotic nuclear envelope degradation|inhibition of mitotic nuclear envelope degradation|downregulation of mitotic nuclear envelope breakdown http://purl.obolibrary.org/obo/GO_1905558 GO:1905559 biolink:BiologicalProcess positive regulation of mitotic nuclear envelope disassembly Any process that activates or increases the frequency, rate or extent of mitotic nuclear envelope disassembly. hp.json activation of mitotic nuclear envelope breakdown|upregulation of mitotic nuclear envelope degradation|up-regulation of mitotic nuclear envelope catabolism|upregulation of mitotic nuclear envelope disassembly|up regulation of mitotic nuclear envelope catabolism|positive regulation of mitotic nuclear envelope degradation|activation of mitotic nuclear envelope catabolism|upregulation of mitotic nuclear envelope breakdown|positive regulation of mitotic nuclear envelope catabolism|up regulation of mitotic nuclear envelope degradation|up regulation of mitotic nuclear envelope disassembly|up-regulation of mitotic nuclear envelope degradation|upregulation of mitotic nuclear envelope catabolism|positive regulation of mitotic nuclear envelope breakdown|activation of mitotic nuclear envelope degradation|up regulation of mitotic nuclear envelope breakdown|up-regulation of mitotic nuclear envelope disassembly|activation of mitotic nuclear envelope disassembly|up-regulation of mitotic nuclear envelope breakdown http://purl.obolibrary.org/obo/GO_1905559 GO:0090715 biolink:NamedThing immunological memory formation process hp.json http://purl.obolibrary.org/obo/GO_0090715 UBERON:0011956 biolink:AnatomicalEntity right hepatic vein A hepatic vein that is part of a right lobe of liver. FMA:14338|EMAPA:37377|MA:0003034 hp.json http://purl.obolibrary.org/obo/UBERON_0011956 human_reference_atlas HP:0410195 biolink:PhenotypicFeature Decreased uridine diphosphate glucose-4-epimerase level in plasma A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp.json Decreased UDP-glucose 4-epimerase level in plasma http://purl.obolibrary.org/obo/HP_0410195 HP:0410194 biolink:PhenotypicFeature Increased uridine diphosphate glucose-4-epimerase level in plasma An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp.json Increased UDP-glucose 4-epimerase level in plasma http://purl.obolibrary.org/obo/HP_0410194 HP:0410193 biolink:PhenotypicFeature Abnormal uridine diphosphate glucose-4-epimerase level in plasma An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp.json Abnormal UDP-glucose 4-epimerase activity level in plasma http://purl.obolibrary.org/obo/HP_0410193 HP:0410192 biolink:PhenotypicFeature Abnormal uridine diphosphate glucose-4-epimerase level An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. hp.json Abnormal UDP-glucose 4-epimerase level http://purl.obolibrary.org/obo/HP_0410192 UBERON:0008310 biolink:AnatomicalEntity nasopharyngeal gland A gland that is part of a nasopharynx. FMA:55076 hp.json http://purl.obolibrary.org/obo/UBERON_0008310 organ_slim HP:0410199 biolink:PhenotypicFeature Increased CSF urate concentration Increased concentration of urate in the cerebrospinal fluid. hp.json Elevated CSF urate concentration|Increased cerebrospinal fluid urate http://purl.obolibrary.org/obo/HP_0410199 HP:0410198 biolink:PhenotypicFeature Decreased uridine diphosphate glucose-4-epimerase level in red blood cells A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp.json Decreased UDP-glucose 4-epimerase level in red blood cells|Decreased UDP-glucose 4-epimerase level in RBCs http://purl.obolibrary.org/obo/HP_0410198 GO:0051145 biolink:BiologicalProcess smooth muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary. hp.json nonstriated muscle cell differentiation http://purl.obolibrary.org/obo/GO_0051145 HP:0410197 biolink:PhenotypicFeature Increased uridine diphosphate glucose-4-epimerase level in red blood cells An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp.json Increased UDP-glucose 4-epimerase level in RBCs|Increased UDP-glucose 4-epimerase level in red blood cells http://purl.obolibrary.org/obo/HP_0410197 HP:0410196 biolink:PhenotypicFeature Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp.json Abnormal UDP-glucose 4-epimerase level in RBCs|Abnormal UDP-glucose 4-epimerase level in red blood cells http://purl.obolibrary.org/obo/HP_0410196 HP:0001929 biolink:PhenotypicFeature Reduced factor XI activity Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. UMLS:C0015523|MSH:D005173|SNOMEDCT_US:49762007 hp.json Low factor XI activity|Factor XI deficiency http://purl.obolibrary.org/obo/HP_0001929 GO:0110058 biolink:BiologicalProcess positive regulation of blood vessel endothelial cell differentiation Any process that activates or increases the frequency, rate or extent of blood vessel endothelial cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0110058 GO:0110059 biolink:BiologicalProcess negative regulation of blood vessel endothelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel endothelial cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0110059 GO:0110057 biolink:BiologicalProcess regulation of blood vessel endothelial cell differentiation Any process that modulates the frequency, rate or extent of blood vessel endothelial cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0110057 HP:0001923 biolink:PhenotypicFeature Reticulocytosis An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. SNOMEDCT_US:46049004|UMLS:C0206160|MSH:D045262 hp.json Polychromasia|Increased number of immature red blood cells|Increased reticulocytes|Increased reticulocyte count|Increased immature red blood cells http://purl.obolibrary.org/obo/HP_0001923 HP:0001924 biolink:PhenotypicFeature Sideroblastic anemia Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896 hp.json Hypersideremic anaemia|Sideroblastic anaemia|Hypersideremic anemia http://purl.obolibrary.org/obo/HP_0001924 HP:0001922 biolink:PhenotypicFeature Vacuolated lymphocytes The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. UMLS:C1836855 hp.json Enlarged lysosomal vacuoles in lymphocytes|Vacuolated blood lymphocytes http://purl.obolibrary.org/obo/HP_0001922 HP:0001927 biolink:PhenotypicFeature Acanthocytosis Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. SNOMEDCT_US:250249008|UMLS:C0687751 hp.json Acanthocytes|Red cell acanthocytosis http://purl.obolibrary.org/obo/HP_0001927 hposlim_core HP:0001928 biolink:PhenotypicFeature Abnormality of coagulation An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. SNOMEDCT_US:362970003|MSH:D006474|UMLS:C1846821|SNOMEDCT_US:64779008|MSH:D001778|UMLS:C0019087|UMLS:C0005779 hp.json Abnormal blood coagulation studies|Blood coagulation disorder|Coagulation abnormality|Coagulation abnormalities|Haemorrhagic disorders http://purl.obolibrary.org/obo/HP_0001928 HP:0001920 biolink:PhenotypicFeature Renal artery stenosis The presence of stenosis of the renal artery. UMLS:C0035067|SNOMEDCT_US:302233006|SNOMEDCT_US:282664001|MSH:D012078|Fyler:2634 hp.json Narrowing of kidney artery http://purl.obolibrary.org/obo/HP_0001920 GO:0051151 biolink:BiologicalProcess negative regulation of smooth muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle cell differentiation. hp.json downregulation of smooth muscle cell differentiation|down regulation of smooth muscle cell differentiation|inhibition of smooth muscle cell differentiation|down-regulation of smooth muscle cell differentiation http://purl.obolibrary.org/obo/GO_0051151 GO:0051152 biolink:BiologicalProcess positive regulation of smooth muscle cell differentiation Any process that activates or increases the frequency, rate or extent of smooth muscle cell differentiation. hp.json up regulation of smooth muscle cell differentiation|stimulation of smooth muscle cell differentiation|up-regulation of smooth muscle cell differentiation|activation of smooth muscle cell differentiation|upregulation of smooth muscle cell differentiation http://purl.obolibrary.org/obo/GO_0051152 GO:0051150 biolink:BiologicalProcess regulation of smooth muscle cell differentiation Any process that modulates the frequency, rate or extent of smooth muscle cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0051150 GO:0051155 biolink:BiologicalProcess positive regulation of striated muscle cell differentiation Any process that activates or increases the frequency, rate or extent of striated muscle cell differentiation. hp.json upregulation of striated muscle cell differentiation|up regulation of striated muscle cell differentiation|stimulation of striated muscle cell differentiation|up-regulation of striated muscle cell differentiation|activation of striated muscle cell differentiation http://purl.obolibrary.org/obo/GO_0051155 GO:0051153 biolink:BiologicalProcess regulation of striated muscle cell differentiation Any process that modulates the frequency, rate or extent of striated muscle cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0051153 GO:0051154 biolink:BiologicalProcess negative regulation of striated muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation. hp.json inhibition of striated muscle cell differentiation|down-regulation of striated muscle cell differentiation|downregulation of striated muscle cell differentiation|down regulation of striated muscle cell differentiation http://purl.obolibrary.org/obo/GO_0051154 GO:0051169 biolink:BiologicalProcess nuclear transport The directed movement of substances into, out of, or within the nucleus. Wikipedia:Nuclear_transport hp.json nucleus transport http://purl.obolibrary.org/obo/GO_0051169 goslim_yeast HP:0001934 biolink:PhenotypicFeature Persistent bleeding after trauma UMLS:C1844374 hp.json Excessive bleeding after minor trauma|Frequent bleeding with trauma|Prolonged bleeding after minor trauma http://purl.obolibrary.org/obo/HP_0001934 HP:0001935 biolink:PhenotypicFeature Microcytic anemia A kind of anemia in which the volume of the red blood cells is reduced. UMLS:C0085576|SNOMEDCT_US:234349007|MSH:C562385 hp.json Microcytic anaemia http://purl.obolibrary.org/obo/HP_0001935 HP:0001933 biolink:PhenotypicFeature Subcutaneous hemorrhage This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). UMLS:C0854107 hp.json Subcutaneous haemorrhage|Bleeding below the skin http://purl.obolibrary.org/obo/HP_0001933 HP:0001939 biolink:PhenotypicFeature Abnormality of metabolism/homeostasis UMLS:C4021768 hp.json Metabolism abnormality|Laboratory abnormality http://purl.obolibrary.org/obo/HP_0001939 HP:0001937 biolink:PhenotypicFeature Microangiopathic hemolytic anemia SNOMEDCT_US:51071000|UMLS:C0221021|MSH:D000743 hp.json Microangiopathic hemolytic anaemia http://purl.obolibrary.org/obo/HP_0001937 HP:0001930 biolink:PhenotypicFeature Nonspherocytic hemolytic anemia UMLS:C4025735 hp.json Nonspherocytic hemolytic anaemia http://purl.obolibrary.org/obo/HP_0001930 HP:0001931 biolink:PhenotypicFeature Hypochromic anemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. MSH:D000747|UMLS:C0002884|SNOMEDCT_US:44452003 hp.json Hypochromic anaemia http://purl.obolibrary.org/obo/HP_0001931 UBERON:0035927 biolink:AnatomicalEntity sulcus of parietal lobe HBA:9370 hp.json parietal lobe sulci|parietal lobe sulcus|PLs http://purl.obolibrary.org/obo/UBERON_0035927 CHEBI:16765 biolink:ChemicalSubstance tryptamine An aminoalkylindole consisting of indole having a 2-aminoethyl group at the 3-position. PMID:16126914|Reaxys:125513|PMID:24345948|KNApSAcK:C00001434|Gmelin:603448|CAS:61-54-1|PMID:24558969|DrugBank:DB08653|CAS:61-54-1|KEGG:C00398|PMID:22770225|CAS:61-54-1|PDBeChem:TSS|HMDB:HMDB0000303|Wikipedia:Tryptamine|Beilstein:125513|MetaCyc:TRYPTAMINE hp.json 2-(1H-indol-3-yl)ethanamine|3-(2-Aminoethyl)indole|Tryptamine|1H-indole-3-ethanamine|2-(3-indolyl)ethylamine|2-(1H-INDOL-3-YL)ETHANAMINE http://purl.obolibrary.org/obo/CHEBI_16765 3_STAR HP:0001909 biolink:PhenotypicFeature Leukemia A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. SNOMEDCT_US:269475001|UMLS:C0376545|MSH:D019337|SNOMEDCT_US:93143009|SNOMEDCT_US:87163000|SNOMEDCT_US:129154003|MSH:D007938|UMLS:C0023418 hp.json Blood cancer|Leukaemia http://purl.obolibrary.org/obo/HP_0001909 PATO:0040043 biolink:NamedThing increased proportionality to A proportionality quality inhering in a bearer by virtue of the bearer's increased magnitude in respect to a related entity. hp.json increased ratio|increased proportionality|increased quotient|increased proportion http://purl.obolibrary.org/obo/PATO_0040043 relational_slim GO:0051179 biolink:BiologicalProcess localization Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. hp.json single-organism localization|localisation|single organism localization|establishment and maintenance of cellular component location|establishment and maintenance of substance location|establishment and maintenance of substrate location|establishment and maintenance of localization|establishment and maintenance of position http://purl.obolibrary.org/obo/GO_0051179 goslim_pir HP:0001907 biolink:PhenotypicFeature Thromboembolism The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. SNOMEDCT_US:371039008|UMLS:C0085307|MSH:D013923|SNOMEDCT_US:13713005|UMLS:C0040038|MSH:D016769 hp.json Embolism and thrombosis|Thromboembolic disease|Blood clot in blood vessel|Thromboembolic events http://purl.obolibrary.org/obo/HP_0001907 HP:0001908 biolink:PhenotypicFeature Hypoplastic anemia Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. SNOMEDCT_US:167923006|MSH:D000741|SNOMEDCT_US:41614006|UMLS:C0178416 hp.json Hypoplastic anaemia http://purl.obolibrary.org/obo/HP_0001908 GO:0110079 biolink:BiologicalProcess regulation of placenta blood vessel development Any process that modulates the frequency, rate or extent of placenta blood vessel development. hp.json http://purl.obolibrary.org/obo/GO_0110079 PATO:0040047 biolink:NamedThing fragmented Existing or functioning as though broken into separate parts; disorganized; disunified. hp.json http://purl.obolibrary.org/obo/PATO_0040047 GO:0110077 biolink:BiologicalProcess vesicle-mediated intercellular transport A cellular transport process in which transported substances are moved in extracellular vesicles between cells; transported substances are enclosed in the vesicle lumen or located in the extracellular vesicle membrane. hp.json http://purl.obolibrary.org/obo/GO_0110077 PATO:0040048 biolink:NamedThing erythematous Red due to increase blood circulation in a defined area. hp.json erythema|skin redness http://purl.obolibrary.org/obo/PATO_0040048 HP:0001901 biolink:PhenotypicFeature Polycythemia Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. MSH:D011086|UMLS:C0032461|UMLS:C1527405|SNOMEDCT_US:127062003|SNOMEDCT_US:109992005 hp.json Abnormally shaped erythrocytes|Increased red blood cells|Polyglobulia|Erythrocytosis http://purl.obolibrary.org/obo/HP_0001901 HP:0001902 biolink:PhenotypicFeature Giant platelets Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). UMLS:C0333864|SNOMEDCT_US:44687006 hp.json http://purl.obolibrary.org/obo/HP_0001902 HP:0001900 biolink:PhenotypicFeature Increased hemoglobin UMLS:C0549448|SNOMEDCT_US:131141003 hp.json Increased Hb|Increased haemoglobin http://purl.obolibrary.org/obo/HP_0001900 HP:0001905 biolink:PhenotypicFeature Congenital thrombocytopenia Thrombocytopenia with congenital onset. UMLS:C0272278 hp.json thrombocytopenia, congenital http://purl.obolibrary.org/obo/HP_0001905 HP:0001903 biolink:PhenotypicFeature Anemia A reduction in erythrocytes volume or hemoglobin concentration. SNOMEDCT_US:271737000|UMLS:C0002871|UMLS:C0162119|SNOMEDCT_US:165397008|MSH:D000740 hp.json Decreased haemoglobin|Anaemia|Low number of red blood cells or hemoglobin|Decreased hemoglobin|Low number of red blood cells or haemoglobin http://purl.obolibrary.org/obo/HP_0001903 HP:0001904 biolink:PhenotypicFeature Neutropenia in presence of anti-neutropil antibodies A type of neutropenia that is observed in the presence of granulocyte-specific antibodies. UMLS:C0340971|SNOMEDCT_US:234425008 hp.json Autoimmune neutropenia http://purl.obolibrary.org/obo/HP_0001904 GO:0051173 biolink:BiologicalProcess positive regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. hp.json upregulation of nitrogen metabolic process|up regulation of nitrogen metabolic process|positive regulation of nitrogen metabolism|stimulation of nitrogen metabolic process|up-regulation of nitrogen metabolic process|activation of nitrogen metabolic process|positive regulation of nitrogen metabolic process http://purl.obolibrary.org/obo/GO_0051173 GO:0051174 biolink:BiologicalProcess regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. hp.json regulation of phosphorus metabolism http://purl.obolibrary.org/obo/GO_0051174 GO:0051171 biolink:BiologicalProcess regulation of nitrogen compound metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. hp.json regulation of nitrogen metabolic process|regulation of nitrogen metabolism http://purl.obolibrary.org/obo/GO_0051171 GO:0051172 biolink:BiologicalProcess negative regulation of nitrogen compound metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. hp.json downregulation of nitrogen metabolic process|negative regulation of nitrogen metabolism|negative regulation of nitrogen metabolic process|down regulation of nitrogen metabolic process|inhibition of nitrogen metabolic process|down-regulation of nitrogen metabolic process http://purl.obolibrary.org/obo/GO_0051172 GO:0090741 biolink:CellularComponent pigment granule membrane Any membrane that is part of a pigment granule. hp.json http://purl.obolibrary.org/obo/GO_0090741 PATO:0040041 biolink:NamedThing avulsion fractured A fractured quality in which the fragment of bone tears away from the main mass of bone as a result of physical trauma. hp.json fractured, avulsion http://purl.obolibrary.org/obo/PATO_0040041 PATO:0040042 biolink:NamedThing decreased proportionality to A proportionality quality inhering in a bearer by virtue of the bearer's decreased magnitude in respect to a related entity. hp.json decreased quotient|decreased proportion|decreased ratio|decreased proportionality http://purl.obolibrary.org/obo/PATO_0040042 relational_slim GO:0051175 biolink:BiologicalProcess negative regulation of sulfur metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. hp.json inhibition of sulfur metabolic process|down-regulation of sulfur metabolic process|negative regulation of sulphur metabolism|negative regulation of sulphur metabolic process|negative regulation of sulfur metabolism|downregulation of sulfur metabolic process|down regulation of sulfur metabolic process http://purl.obolibrary.org/obo/GO_0051175 UBERON:0008367 biolink:AnatomicalEntity breast epithelium An epithelium that is part of a breast. BTO:0001428 hp.json http://purl.obolibrary.org/obo/UBERON_0008367 GO:0051176 biolink:BiologicalProcess positive regulation of sulfur metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. hp.json upregulation of sulfur metabolic process|positive regulation of sulphur metabolic process|positive regulation of sulfur metabolism|positive regulation of sulphur metabolism|up regulation of sulfur metabolic process|stimulation of sulfur metabolic process|up-regulation of sulfur metabolic process|activation of sulfur metabolic process http://purl.obolibrary.org/obo/GO_0051176 PATO:0040040 biolink:NamedThing compression-fractured A fractured quality that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. hp.json compression fractured|wedge fractured|fractured, compression|fractured, wedge http://purl.obolibrary.org/obo/PATO_0040040 HP:0001919 biolink:PhenotypicFeature Acute kidney injury Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). SNOMEDCT_US:14350001000004108|MSH:D058186|UMLS:C0022660|UMLS:C2609414|SNOMEDCT_US:14669001 hp.json Acute kidney failure|Acute renal failure http://purl.obolibrary.org/obo/HP_0001919 HP:0001912 biolink:PhenotypicFeature Abnormal basophil morphology Any structural abnormality or abnormal count of basophils. UMLS:C4025736 hp.json Abnormality of basophils http://purl.obolibrary.org/obo/HP_0001912 HP:0001913 biolink:PhenotypicFeature Granulocytopenia An abnormally reduced number of granulocytes in the blood. MSH:D000380|SNOMEDCT_US:417672002|SNOMEDCT_US:17182001|UMLS:C0001824 hp.json http://purl.obolibrary.org/obo/HP_0001913 HP:0001911 biolink:PhenotypicFeature Abnormal granulocyte morphology Any structural abnormality or abnormal count of granulocytes. UMLS:C0427515|SNOMEDCT_US:250274006 hp.json Abnormality of granulocytes http://purl.obolibrary.org/obo/HP_0001911 GO:0110081 biolink:BiologicalProcess negative regulation of placenta blood vessel development Any process that stops, prevents or reduces the frequency, rate or extent of placenta blood vessel development. hp.json http://purl.obolibrary.org/obo/GO_0110081 GO:2000977 biolink:BiologicalProcess regulation of forebrain neuron differentiation Any process that modulates the frequency, rate or extent of forebrain neuron differentiation. hp.json http://purl.obolibrary.org/obo/GO_2000977 HP:0001917 biolink:PhenotypicFeature Renal amyloidosis A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). SNOMEDCT_US:48713002|UMLS:C0268382 hp.json http://purl.obolibrary.org/obo/HP_0001917 GO:2000978 biolink:BiologicalProcess negative regulation of forebrain neuron differentiation Any process that stops, prevents or reduces the frequency, rate or extent of forebrain neuron differentiation. hp.json http://purl.obolibrary.org/obo/GO_2000978 GO:2000979 biolink:BiologicalProcess positive regulation of forebrain neuron differentiation Any process that activates or increases the frequency, rate or extent of forebrain neuron differentiation. hp.json http://purl.obolibrary.org/obo/GO_2000979 HP:0001915 biolink:PhenotypicFeature Aplastic anemia Aplastic anemia is defined as pancytopenia with a hypocellular marrow. UMLS:C0002874|SNOMEDCT_US:304132006|SNOMEDCT_US:306058006|MSH:D000741 hp.json Aplastic anaemia http://purl.obolibrary.org/obo/HP_0001915 GO:0110080 biolink:BiologicalProcess positive regulation of placenta blood vessel development Any process that activates or increases the frequency, rate or extent of placenta blood vessel development. hp.json http://purl.obolibrary.org/obo/GO_0110080 UBERON:0011997 biolink:AnatomicalEntity coelom The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. EHDAA2:0004731|Wikipedia:Coelom hp.json coelomic cavity|schizocoelom|enterocoelom|coelem|haemocoelom http://purl.obolibrary.org/obo/UBERON_0011997 CHEBI:16782 biolink:ChemicalSubstance (S)-2-hydroxyglutarate(2-) A 2-hydroxyglutarate(2-) that has (2S)-configuration. Reaxys:5257108|Beilstein:5257108|KEGG:C03196|MetaCyc:CPD-381 hp.json (S)-2-hydroxyglutarate|(2S)-2-hydroxypentanedioate http://purl.obolibrary.org/obo/CHEBI_16782 3_STAR GO:0016746 biolink:MolecularActivity acyltransferase activity Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). Reactome:R-HSA-6792572|Reactome:R-HSA-8858298|Reactome:R-HSA-193491|Reactome:R-HSA-192312|Reactome:R-HSA-159431|EC:2.3.-.- hp.json transferase activity, transferring acyl groups http://purl.obolibrary.org/obo/GO_0016746 goslim_drosophila|goslim_chembl GO:0016747 biolink:MolecularActivity acyltransferase activity, transferring groups other than amino-acyl groups Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor). EC:2.3.1.- hp.json transferase activity, transferring groups other than amino-acyl groups|transferase activity, transferring acyl groups other than amino-acyl groups http://purl.obolibrary.org/obo/GO_0016747 CHEBI:51060 biolink:ChemicalSubstance hormone agonist A chemical substance which binds to specific hormone receptors activating the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. hp.json http://purl.obolibrary.org/obo/CHEBI_51060 3_STAR CHEBI:51061 biolink:ChemicalSubstance hormone receptor modulator A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. hp.json hormone receptor modulators http://purl.obolibrary.org/obo/CHEBI_51061 3_STAR MPATH:0 biolink:NamedThing pathological entity Pathological structure or process hp.json http://purl.obolibrary.org/obo/MPATH_0 GO:0016740 biolink:MolecularActivity transferase activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. Reactome:R-HSA-8868783|EC:2.-.-.-|Reactome:R-HSA-5668414|Reactome:R-HSA-1483089|Reactome:R-HSA-1483186 hp.json http://purl.obolibrary.org/obo/GO_0016740 goslim_pir|goslim_drosophila|goslim_chembl|goslim_aspergillus|goslim_metagenomics|goslim_mouse|goslim_yeast|goslim_generic|goslim_candida|prokaryote_subset|goslim_plant MPATH:1 biolink:NamedThing cell and tissue damage The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. hp.json http://purl.obolibrary.org/obo/MPATH_1 PATO:0040034 biolink:NamedThing fractured A broken quality where an entity is cracked or broken, usually a bone. hp.json http://purl.obolibrary.org/obo/PATO_0040034 PATO:0040030 biolink:NamedThing decreased width and length A width and length quality which is relatively small, where both width and length are decreased. hp.json http://purl.obolibrary.org/obo/PATO_0040030 value_slim CHEBI:63070 biolink:ChemicalSubstance beta-alaninate A beta-amino-acid anion that is the conjugate base of beta-alanine. Reaxys:3536336 hp.json beta-alaninate(1-)|3-aminopropanoate|beta-alaninate anion http://purl.obolibrary.org/obo/CHEBI_63070 3_STAR PATO:0040019 biolink:NamedThing fibrotic Fibrosis is the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. hp.json http://purl.obolibrary.org/obo/PATO_0040019 CHEBI:38077 biolink:ChemicalSubstance polypyrrole A compound composed of two or more pyrrole units. Beilstein:8538310 hp.json poly(pyrrole)s|PPys|polypyrroles http://purl.obolibrary.org/obo/CHEBI_38077 3_STAR UBERON:0008425 biolink:AnatomicalEntity mammary ridge A ridge of epidermal cells that will form the mammary placodes. EMAPA:18541 hp.json mammary line|mammary gland ridge|mammary fold|milk line http://purl.obolibrary.org/obo/UBERON_0008425 UBERON:0008429 biolink:AnatomicalEntity cervical vertebral foramen A vertebral foramen that is part of a cervical vertebra. FMA:13480 hp.json http://purl.obolibrary.org/obo/UBERON_0008429 UBERON:0008420 biolink:AnatomicalEntity buccal epithelium An epithelium that is part of a buccal mucosa. BTO:0004803 hp.json http://purl.obolibrary.org/obo/UBERON_0008420 GO:0004736 biolink:MolecularActivity pyruvate carboxylase activity Catalysis of the reaction: ATP + bicarbonate + pyruvate = ADP + 2 H(+) + oxaloacetate + phosphate. Reactome:R-HSA-70501|EC:6.4.1.1|RHEA:20844|MetaCyc:PYRUVATE-CARBOXYLASE-RXN|KEGG_REACTION:R00344 hp.json pyruvic carboxylase activity|pyruvate:carbon-dioxide ligase (ADP-forming) http://purl.obolibrary.org/obo/GO_0004736 CHEBI:26078 biolink:ChemicalSubstance phosphoric acid A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom. Gmelin:2000|CAS:7664-38-2|CAS:7664-38-2|HMDB:HMDB0002142|PMID:11455380|PMID:17518491|Drug_Central:4478|PMID:15630224|Reaxys:1921286|Beilstein:1921286|PMID:17439666|PMID:22333268|KEGG:D05467|PMID:22401268|CAS:7664-38-2|Wikipedia:Phosphoric_Acid|PMID:22381614|PMID:22282755|KEGG:C00009|KNApSAcK:C00007408 hp.json trihydroxidooxidophosphorus|Phosphorsaeureloesungen|trihydrogen tetraoxophosphate(3-)|[PO(OH)3]|orthophosphoric acid|Orthophosphoric acid|H3PO4|tetraoxophosphoric acid|Phosphorsaeure|Phosphoric acid|acide phosphorique|Phosphate|acidum phosphoricum|phosphoric acid http://purl.obolibrary.org/obo/CHEBI_26078 3_STAR CHEBI:26079 biolink:ChemicalSubstance phosphoric acid derivative hp.json http://purl.obolibrary.org/obo/CHEBI_26079 1_STAR CHEBI:26082 biolink:ChemicalSubstance phosphorus molecular entity hp.json phosphorus molecular entities http://purl.obolibrary.org/obo/CHEBI_26082 3_STAR GO:1905503 biolink:BiologicalProcess regulation of motile cilium assembly Any process that modulates the frequency, rate or extent of motile cilium assembly. hp.json regulation of motile primary cilia formation|regulation of motile primary cilia assembly|regulation of nodal cilium formation|regulation of motile primary cilium assembly|regulation of motile primary cilium formation|regulation of nodal cilium assembly http://purl.obolibrary.org/obo/GO_1905503 GO:1905504 biolink:BiologicalProcess negative regulation of motile cilium assembly Any process that stops, prevents or reduces the frequency, rate or extent of motile cilium assembly. hp.json downregulation of nodal cilium assembly|downregulation of nodal cilium formation|down regulation of motile primary cilia formation|downregulation of motile primary cilium assembly|inhibition of motile primary cilium assembly|downregulation of motile primary cilia assembly|inhibition of nodal cilium assembly|down-regulation of motile primary cilia formation|down regulation of nodal cilium formation|negative regulation of motile primary cilia formation|down regulation of motile primary cilium assembly|negative regulation of nodal cilium formation|negative regulation of motile primary cilium formation|down-regulation of motile primary cilium formation|down-regulation of nodal cilium formation|negative regulation of nodal cilium assembly|down-regulation of motile primary cilium assembly|down-regulation of nodal cilium assembly|negative regulation of motile primary cilium assembly|inhibition of motile primary cilium formation|down regulation of motile primary cilium formation|inhibition of nodal cilium formation|negative regulation of motile primary cilia assembly|down regulation of nodal cilium assembly|down-regulation of motile primary cilia assembly|inhibition of motile primary cilia assembly|downregulation of motile primary cilia formation|inhibition of motile primary cilia formation|down regulation of motile primary cilia assembly|downregulation of motile primary cilium formation http://purl.obolibrary.org/obo/GO_1905504 GO:1905505 biolink:BiologicalProcess positive regulation of motile cilium assembly Any process that activates or increases the frequency, rate or extent of motile cilium assembly. hp.json activation of motile primary cilium formation|up-regulation of motile primary cilium formation|up regulation of motile primary cilium assembly|up-regulation of nodal cilium assembly|up-regulation of nodal cilium formation|up regulation of motile primary cilium formation|up-regulation of motile primary cilium assembly|up regulation of nodal cilium assembly|activation of motile primary cilia assembly|up-regulation of motile primary cilia assembly|positive regulation of motile primary cilium formation|positive regulation of nodal cilium assembly|upregulation of motile primary cilia formation|up regulation of motile primary cilia assembly|activation of nodal cilium formation|positive regulation of motile primary cilia assembly|upregulation of nodal cilium formation|upregulation of motile primary cilium formation|positive regulation of motile primary cilia formation|upregulation of motile primary cilium assembly|upregulation of nodal cilium assembly|activation of motile primary cilia formation|activation of nodal cilium assembly|up regulation of motile primary cilia formation|upregulation of motile primary cilia assembly|positive regulation of nodal cilium formation|up-regulation of motile primary cilia formation|activation of motile primary cilium assembly|positive regulation of motile primary cilium assembly|up regulation of nodal cilium formation http://purl.obolibrary.org/obo/GO_1905505 GO:1905516 biolink:BiologicalProcess positive regulation of fertilization Any process that activates or increases the frequency, rate or extent of fertilization. hp.json up-regulation of fertilization|up-regulation of syngamy|up regulation of fertilization|activation of fertilization|up regulation of syngamy|activation of syngamy|positive regulation of syngamy|upregulation of fertilization|upregulation of syngamy http://purl.obolibrary.org/obo/GO_1905516 GO:1905517 biolink:BiologicalProcess macrophage migration The orderly movement of a macrophage from one site to another. hp.json http://purl.obolibrary.org/obo/GO_1905517 GO:0051100 biolink:BiologicalProcess negative regulation of binding Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. hp.json down-regulation of binding|down regulation of binding|inhibition of binding|downregulation of binding http://purl.obolibrary.org/obo/GO_0051100 HP:0011252 biolink:PhenotypicFeature Cryptotia Invagination of the superior part of the auricle under a fold of temporal skin. UMLS:C2315717|SNOMEDCT_US:429967001 hp.json Hidden ear|Buried ear http://purl.obolibrary.org/obo/HP_0011252 hposlim_core HP:0011253 biolink:PhenotypicFeature Type I cryptotia A type of cryptotia associated with reduction in size of the antihelix and superior crus. UMLS:C4023442 hp.json Type 1 cryptotia http://purl.obolibrary.org/obo/HP_0011253 HP:0011254 biolink:PhenotypicFeature Type II cryptotia A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected. UMLS:C4023441 hp.json Type 2 cryptotia http://purl.obolibrary.org/obo/HP_0011254 HP:0011255 biolink:PhenotypicFeature Absent crus of helix Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha. UMLS:C4021185 hp.json Helix, crus, absent http://purl.obolibrary.org/obo/HP_0011255 HP:0011256 biolink:PhenotypicFeature Crus of helix connected to antihelix Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix. UMLS:C4021184 hp.json Helix, crus, connected to antihelix http://purl.obolibrary.org/obo/HP_0011256 HP:0011257 biolink:PhenotypicFeature Serpiginous crus of helix Curving course of the crus of the helix, approaching or joining the antitragus. UMLS:C4021183 hp.json Helix, crus, serpiginous http://purl.obolibrary.org/obo/HP_0011257 HP:0011258 biolink:PhenotypicFeature Tragal bridge of crus of helix The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix. UMLS:C4021182 hp.json Helix, crus, tragal bridge http://purl.obolibrary.org/obo/HP_0011258 GO:0099098 biolink:BiologicalProcess microtubule polymerization based movement The movement of a cellular component as a result of microtubule polymerization. hp.json http://purl.obolibrary.org/obo/GO_0099098 HP:0011259 biolink:PhenotypicFeature Expanded terminal portion of crus of helix Widening, rather than tapering, of the crus at its posterior border near the antihelix. UMLS:C4021181 hp.json Helix, crus, expanded terminal portion http://purl.obolibrary.org/obo/HP_0011259 GO:0002185 biolink:CellularComponent creatine kinase complex A protein complex having creatine kinase activity. hp.json http://purl.obolibrary.org/obo/GO_0002185 GO:0002187 biolink:CellularComponent mitochondrial creatine kinase complex An octomeric protein complex having creatine kinase activity. hp.json http://purl.obolibrary.org/obo/GO_0002187 HP:0011250 biolink:PhenotypicFeature Bifid antitragus Double rather than single peak of the antitragus. UMLS:C4021187 hp.json Double antitragus http://purl.obolibrary.org/obo/HP_0011250 HP:0011251 biolink:PhenotypicFeature Underdeveloped antitragus Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. UMLS:C4021186 hp.json Hypotrophic antitragus|Small antitragus|Hypoplastic antitragus http://purl.obolibrary.org/obo/HP_0011251 CHEBI:133291 biolink:ChemicalSubstance saturated dicarboxylic acid dianion(2-) A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid that contains no carbon-carbon double bonds. hp.json a saturated dicarboxylic acid|saturated dicarboxylate(2-) http://purl.obolibrary.org/obo/CHEBI_133291 3_STAR CHEBI:133294 biolink:ChemicalSubstance oxo dicarboxylic acid dianion A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of any oxo dicarboxylic acid. hp.json oxo dicarboxylic acid|oxo dicarboxylic acid dianions http://purl.obolibrary.org/obo/CHEBI_133294 3_STAR HP:0011241 biolink:PhenotypicFeature Serpiginous stem of antihelix Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha. UMLS:C4021193 hp.json Antihelix, stem, serpiginous http://purl.obolibrary.org/obo/HP_0011241 HP:0011242 biolink:PhenotypicFeature Underdeveloped stem of antihelix Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix. UMLS:C4021192 hp.json Antihelix, stem, underdeveloped http://purl.obolibrary.org/obo/HP_0011242 HP:0011243 biolink:PhenotypicFeature Abnormality of inferior crus of antihelix An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. UMLS:C4021191 hp.json Abnormality of anterior crus of antihelix http://purl.obolibrary.org/obo/HP_0011243 HP:0011244 biolink:PhenotypicFeature Abnormality of stem of antihelix An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura. UMLS:C4023445 hp.json http://purl.obolibrary.org/obo/HP_0011244 HP:0011245 biolink:PhenotypicFeature Abnormality of superior crus of antihelix An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. UMLS:C4021190 hp.json Abnormality of posterior crus of antihelix http://purl.obolibrary.org/obo/HP_0011245 HP:0011246 biolink:PhenotypicFeature Underdeveloped superior crus of antihelix Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. UMLS:C4021189 hp.json Hypoplastic superior crus of antihelix|Hypotrophic superior crus of antihelix http://purl.obolibrary.org/obo/HP_0011246 HP:0011247 biolink:PhenotypicFeature Prominent superior crus of antihelix Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem. UMLS:C4021188 hp.json Hyperplastic superior crus of antihelix|Hypertrophic superior crus of antihelix http://purl.obolibrary.org/obo/HP_0011247 OBO:hp#plural_form biolink:NamedThing plural form hp.json http://purl.obolibrary.org/obo/hp#plural_form HP:0011248 biolink:PhenotypicFeature Everted antitragus Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear). UMLS:C4023444 hp.json http://purl.obolibrary.org/obo/HP_0011248 HP:0011240 biolink:PhenotypicFeature Prominent stem of antihelix Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix. UMLS:C4020910 hp.json Hyperplastic antihelix stem|Hypertrophic antihelix stem http://purl.obolibrary.org/obo/HP_0011240 HP:0011249 biolink:PhenotypicFeature Absent antitragus Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. UMLS:C4023443 hp.json http://purl.obolibrary.org/obo/HP_0011249 PATO:0015001 biolink:NamedThing absence due to degeneration Absence due to a degenerative process. hp.json http://purl.obolibrary.org/obo/PATO_0015001 value_slim|absent_slim HP:0011230 biolink:PhenotypicFeature Laterally extended eyebrow An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location. UMLS:C4023451 hp.json Laterally extended eyebrows|Increased lateral length of eyebrow|Laterally elongated eyebrow http://purl.obolibrary.org/obo/HP_0011230 HP:0011231 biolink:PhenotypicFeature Prominent eyelashes Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. UMLS:C4023450|UMLS:C1835802 hp.json Prominent eyelashes|Thick eyelashes http://purl.obolibrary.org/obo/HP_0011231 HP:0011232 biolink:PhenotypicFeature Infra-orbital fold Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge. UMLS:C4023449 hp.json Infraorbital fold|Dennie-Morgan fold http://purl.obolibrary.org/obo/HP_0011232 hposlim_core HP:0011233 biolink:PhenotypicFeature Antihelical shelf Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha. UMLS:C4021197 hp.json Conchal shelf http://purl.obolibrary.org/obo/HP_0011233 HP:0011234 biolink:PhenotypicFeature Absent antihelix No discernible ridge between concha and triangular fossa and helix. UMLS:C4023448 hp.json http://purl.obolibrary.org/obo/HP_0011234 HP:0011235 biolink:PhenotypicFeature Additional crus of antihelix Supernumerary ridge or crus of the ear arising from the antihelix. UMLS:C4023447 hp.json http://purl.obolibrary.org/obo/HP_0011235 PATO:0015006 biolink:NamedThing polymeric A quality inhering in a structure by virtue of it consisting of many of repeated, similar or identical subunits, arranged in some orderly array. hp.json http://purl.obolibrary.org/obo/PATO_0015006 value_slim HP:0011236 biolink:PhenotypicFeature Angulated antihelix Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc. UMLS:C4023446 hp.json http://purl.obolibrary.org/obo/HP_0011236 HP:0011237 biolink:PhenotypicFeature Broad inferior crus of antihelix Increased width of the inferred cross-section of the inferior crus. UMLS:C4021196 hp.json Antihelix, inferior crus, broad http://purl.obolibrary.org/obo/HP_0011237 HP:0011238 biolink:PhenotypicFeature Prominent inferior crus of antihelix Increased protrusion of the inferior crus relative to the prominence of the antihelix stem. UMLS:C4021195 hp.json Antihelix, inferior crus, prominent|Hyperplastic inferior crus of antihelix|Hypertrophic inferior crus of antihelix http://purl.obolibrary.org/obo/HP_0011238 HP:0011239 biolink:PhenotypicFeature Underdeveloped inferior crus of antihelix Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem. UMLS:C4021194 hp.json Antihelix, inferior crus, underdeveloped|Hypoplastic inferior crus of antihelix|Hypotrophic inferior crus of antihelix http://purl.obolibrary.org/obo/HP_0011239 PATO:0015007 biolink:NamedThing prominence A quality inhering in a bearer by virtue of the degree to which the bearers stands out or projects beyond a surface or line. hp.json http://purl.obolibrary.org/obo/PATO_0015007 attribute_slim PATO:0015008 biolink:NamedThing distensibility hp.json http://purl.obolibrary.org/obo/PATO_0015008 HP:0011220 biolink:PhenotypicFeature Prominent forehead Forward prominence of the entire forehead, due to protrusion of the frontal bone. UMLS:C1867446|UMLS:C1837260 hp.json Prominence of frontal region|Prominent forehead|Protruding forehead|Bulging forehead|Pronounced forehead http://purl.obolibrary.org/obo/HP_0011220 hposlim_core HP:0011221 biolink:PhenotypicFeature Vertical forehead creases Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. UMLS:C4023456 hp.json Frontal creases of face|Vertical forehead creases|Vertical forehead wrinkles|Vertical forehead rhytids http://purl.obolibrary.org/obo/HP_0011221 hposlim_core HP:0011222 biolink:PhenotypicFeature Depressed glabella Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges. UMLS:C4023455 hp.json Flat glabella|Flat area between the eyebrows|Deficiency of glabella|Concave glabella|Hypoplasia of glabella|Deficient area between the eyebrows http://purl.obolibrary.org/obo/HP_0011222 HP:0011223 biolink:PhenotypicFeature Metopic depression Linear vertical groove in the midline of the forehead, extending from hairline to glabella. UMLS:C4023454 hp.json Depression of frontal cranial suture|Depression of metopic cranial suture|Frontal suture depression http://purl.obolibrary.org/obo/HP_0011223 hposlim_core HP:0011224 biolink:PhenotypicFeature Ablepharon Absent eyelids. UMLS:C0266574|UMLS:C4020757|SNOMEDCT_US:13401001|SNOMEDCT_US:708541009 hp.json Aplasia of the eyelids|Agenesis of eyelids|Ablepharon of eyelid|Absent eyelids|Missing eyelids http://purl.obolibrary.org/obo/HP_0011224 hposlim_core HP:0011225 biolink:PhenotypicFeature Epiblepharon Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva. SNOMEDCT_US:253212001|UMLS:C0344503 hp.json http://purl.obolibrary.org/obo/HP_0011225 hposlim_core HP:0011226 biolink:PhenotypicFeature Aplasia/Hypoplasia of the eyelid Absence or underdevelopment of the eyelid. UMLS:C4023453 hp.json Failure of development of eyelid|Hypotrophic eyelid http://purl.obolibrary.org/obo/HP_0011226 GO:0099083 biolink:BiologicalProcess retrograde trans-synaptic signaling by neuropeptide, modulating synaptic transmission Modulation of synaptic transmittion by cell-cell signaling across the synaptic cleft from postsynapse to presynapse, mediated by a neuropeptide. hp.json http://purl.obolibrary.org/obo/GO_0099083 goslim_synapse GO:0099081 biolink:CellularComponent supramolecular polymer A polymeric supramolecular structure. hp.json http://purl.obolibrary.org/obo/GO_0099081 GO:0099082 biolink:BiologicalProcess retrograde trans-synaptic signaling by neuropeptide Cell-cell signaling from postsynapse to presynapse, across the synaptic cleft, mediated by a neuropeptide. hp.json http://purl.obolibrary.org/obo/GO_0099082 goslim_synapse GO:0099080 biolink:CellularComponent supramolecular complex A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. hp.json http://purl.obolibrary.org/obo/GO_0099080 HP:0011227 biolink:PhenotypicFeature Elevated circulating C-reactive protein concentration An abnormal elevation of the C-reactive protein level in the blood circulation. UMLS:C0742906|UMLS:C4023452 hp.json Elevated CRP|Elevated C-reactive protein level http://purl.obolibrary.org/obo/HP_0011227 HP:0011228 biolink:PhenotypicFeature Horizontal eyebrow An eyebrow that extends straight across the brow, without curve. UMLS:C3277019 hp.json Straight eyebrow|Flat eyebrow|Horizontal eyebrow|Lack of eyebrow arch|Lack of eyebrow curvature|Straight eyebrows http://purl.obolibrary.org/obo/HP_0011228 hposlim_core HP:0011229 biolink:PhenotypicFeature Broad eyebrow Regional increase in the width (height) of the eyebrow. UMLS:C1856121 hp.json Broad eyebrows|Increased vertical width of eyebrow|Flared eyebrow|Increased vertical height of eyebrow|Broad eyebrow|Flared eyebrows|Increased vertical thickness of eyebrow http://purl.obolibrary.org/obo/HP_0011229 hposlim_core HP:0011296 biolink:PhenotypicFeature EEG with temporal sharp waves EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec. UMLS:C2206519 hp.json http://purl.obolibrary.org/obo/HP_0011296 HP:0011297 biolink:PhenotypicFeature Abnormal digit morphology A morphological abnormality of a digit, i.e., of a finger or toe. UMLS:C3550704 hp.json Abnormality of digit|Digital anomalies|Abnormality of fingers or toes http://purl.obolibrary.org/obo/HP_0011297 hposlim_core HP:0011298 biolink:PhenotypicFeature Prominent digit pad A soft tissue prominence of the ventral aspects of the fingertips or toe tips. UMLS:C4023424 hp.json Prominent digit pad http://purl.obolibrary.org/obo/HP_0011298 HP:0011299 biolink:PhenotypicFeature Partial absence of finger The absence of a phalangeal segment of a finger. UMLS:C4023423 hp.json Partial absence of finger http://purl.obolibrary.org/obo/HP_0011299 hposlim_core HP:0011290 biolink:PhenotypicFeature EEG with frontal sharp slow waves EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. UMLS:C4023426 hp.json http://purl.obolibrary.org/obo/HP_0011290 HP:0011291 biolink:PhenotypicFeature EEG with central sharp slow waves EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. UMLS:C4023425 hp.json http://purl.obolibrary.org/obo/HP_0011291 HP:0011292 biolink:PhenotypicFeature EEG with occipital sharp waves EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec. UMLS:C2206521 hp.json http://purl.obolibrary.org/obo/HP_0011292 HP:0011293 biolink:PhenotypicFeature EEG with central sharp waves EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec. UMLS:C2207327 hp.json http://purl.obolibrary.org/obo/HP_0011293 HP:0011294 biolink:PhenotypicFeature EEG with frontal sharp waves EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec. UMLS:C2206518 hp.json http://purl.obolibrary.org/obo/HP_0011294 HP:0011295 biolink:PhenotypicFeature EEG with parietal sharp waves EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. UMLS:C2206520 hp.json http://purl.obolibrary.org/obo/HP_0011295 GO:0016787 biolink:MolecularActivity hydrolase activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Reactome:R-HSA-1236938|Reactome:R-HSA-8938314|Reactome:R-HSA-6786190|Reactome:R-HSA-2029475|Reactome:R-HSA-6788295|Reactome:R-HSA-5695964|EC:3.-.-.-|Reactome:R-HSA-5694583|Reactome:R-HSA-8952137 hp.json http://purl.obolibrary.org/obo/GO_0016787 goslim_mouse|goslim_candida|goslim_yeast|goslim_generic|prokaryote_subset|goslim_plant|goslim_pir|goslim_drosophila|goslim_chembl|goslim_metagenomics GO:0016788 biolink:MolecularActivity hydrolase activity, acting on ester bonds Catalysis of the hydrolysis of any ester bond. Reactome:R-HSA-9023617|Reactome:R-HSA-9023619|EC:3.1.-.-|Reactome:R-HSA-162729 hp.json esterase activity http://purl.obolibrary.org/obo/GO_0016788 goslim_chembl CHEBI:133251 biolink:ChemicalSubstance 3-hydroxydicarboxylate(2-) A dicarboxylic acid dianion that results from the removal of a proton from both of the carboxylic acid groups of any 3-hydroxydicarboxylic acid. hp.json a 3-hydroxy dicarboxylic acid|3-hydroxydicarboxylic acid dianion(2-) http://purl.obolibrary.org/obo/CHEBI_133251 3_STAR HP:0011285 biolink:PhenotypicFeature Long-segment aganglionic megacolon A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. UMLS:C4023430 hp.json http://purl.obolibrary.org/obo/HP_0011285 HP:0011286 biolink:PhenotypicFeature Total colonic aganglionosis A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon. SNOMEDCT_US:253780003|SNOMEDCT_US:360441005|UMLS:C0085758|MSH:D006627 hp.json http://purl.obolibrary.org/obo/HP_0011286 HP:0011287 biolink:PhenotypicFeature EEG with occipital sharp slow waves EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. UMLS:C4023429 hp.json http://purl.obolibrary.org/obo/HP_0011287 HP:0011288 biolink:PhenotypicFeature EEG with parietal sharp slow waves EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. UMLS:C4023428 hp.json http://purl.obolibrary.org/obo/HP_0011288 HP:0011289 biolink:PhenotypicFeature EEG with temporal sharp slow waves EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. UMLS:C4023427 hp.json http://purl.obolibrary.org/obo/HP_0011289 GO:0002158 biolink:BiologicalProcess osteoclast proliferation The multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. hp.json http://purl.obolibrary.org/obo/GO_0002158 HP:0011280 biolink:PhenotypicFeature Abnormality of urine calcium concentration An abnormality of calcium concentration in the urine. UMLS:C4023434 hp.json Abnormality of urine Ca2+ concentration|Abnormality of urine Ca concentration http://purl.obolibrary.org/obo/HP_0011280 HP:0011281 biolink:PhenotypicFeature Abnormality of urine catecholamine level An abnormal amount of urinary catecholamine concentration. UMLS:C4023433|MP:0011478 hp.json http://purl.obolibrary.org/obo/HP_0011281 HP:0011282 biolink:PhenotypicFeature Abnormal hindbrain morphology An abnormality of the hindbrain, also known as the rhombencephalon. UMLS:C4021170 hp.json Abnormality of hindbrain morphology|Abnormal shape of hindbrain|Abnormality of the hindbrain http://purl.obolibrary.org/obo/HP_0011282 HP:0011283 biolink:PhenotypicFeature Abnormal metencephalon morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. UMLS:C4023432 hp.json Abnormality of the metencephalon http://purl.obolibrary.org/obo/HP_0011283 HP:0011284 biolink:PhenotypicFeature Short-segment aganglionic megacolon A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid. UMLS:C4023431 hp.json http://purl.obolibrary.org/obo/HP_0011284 GO:0016798 biolink:MolecularActivity hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any glycosyl bond. EC:3.2.-.-|Reactome:R-HSA-2065233|Reactome:R-HSA-1793176 hp.json glycosidase activity|N-glycosylase|glycosylase http://purl.obolibrary.org/obo/GO_0016798 goslim_yeast|goslim_chembl|goslim_drosophila GO:0016791 biolink:MolecularActivity phosphatase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. Reactome:R-HSA-9636457|MetaCyc:4-NITROPHENYLPHOSPHATASE-RXN|Reactome:R-HSA-4419986|EC:3.1.3.- hp.json para-nitrophenyl phosphatase activity|4-nitrophenylphosphatase activity|p-nitrophenylphosphate phosphohydrolase activity|phosphatase|phosphoric monoester hydrolase activity|p-nitrophenylphosphatase activity|4-nitrophenylphosphate phosphohydrolase activity|K-pNPPase activity|PNPPase activity|ecto-p-nitrophenyl phosphatase activity|NPPase activity|nitrophenyl phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 goslim_candida|goslim_drosophila|goslim_chembl|goslim_metagenomics|goslim_yeast HP:0011274 biolink:PhenotypicFeature Recurrent mycobacterial infections Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection. UMLS:C4023438 hp.json http://purl.obolibrary.org/obo/HP_0011274 HP:0011275 biolink:PhenotypicFeature Recurrent mycobacterium avium complex infections Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection. UMLS:C1737260 hp.json http://purl.obolibrary.org/obo/HP_0011275 HP:0011276 biolink:PhenotypicFeature Vascular skin abnormality SNOMEDCT_US:11263005|UMLS:C0162819|MSH:D017445|UMLS:C1842892 hp.json Vascular abnormalities restricted to skin|Skin vascular malformation http://purl.obolibrary.org/obo/HP_0011276 HP:0011277 biolink:PhenotypicFeature Abnormality of the urinary system physiology UMLS:C4023437 hp.json http://purl.obolibrary.org/obo/HP_0011277 HP:0011278 biolink:PhenotypicFeature Intrapulmonary sequestration A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree. UMLS:C4023436 hp.json http://purl.obolibrary.org/obo/HP_0011278 HP:0011279 biolink:PhenotypicFeature Abnormality of urine bicarbonate level An abnormal amount of hydrogencarbonate in the urine. UMLS:C4023435 hp.json Abnormality of urine HCO3 concentration http://purl.obolibrary.org/obo/HP_0011279 HP:0011270 biolink:PhenotypicFeature Duplicated tragus A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus. UMLS:C4021172 hp.json Accesory tragus|Tragus, duplicated http://purl.obolibrary.org/obo/HP_0011270 HP:0011271 biolink:PhenotypicFeature Prominent tragus Increase posterolateral protrusion of the tragus. UMLS:C4021171 hp.json Hyperplastic tragus|Hypertrophic tragus|Large tragus|Enlarged tragus|Tragus, prominent http://purl.obolibrary.org/obo/HP_0011271 hposlim_core HP:0011272 biolink:PhenotypicFeature Underdeveloped tragus Decreased posterolateral protrusion of the tragus. UMLS:C4013429 hp.json Hypotrophic tragus|Small tragus|Hypoplastic tragus http://purl.obolibrary.org/obo/HP_0011272 HP:0011273 biolink:PhenotypicFeature Anisocytosis Abnormally increased variability in the size of erythrocytes. SNOMEDCT_US:165475005|UMLS:C0221278|SNOMEDCT_US:57241006 hp.json Unequal size of red blood cells http://purl.obolibrary.org/obo/HP_0011273 GO:0016769 biolink:MolecularActivity transferase activity, transferring nitrogenous groups Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor). EC:2.6.-.- hp.json transferase activity, transferring other nitrogenous groups http://purl.obolibrary.org/obo/GO_0016769 CHEBI:51086 biolink:ChemicalSubstance chemical role A role played by the molecular entity or part thereof within a chemical context. hp.json http://purl.obolibrary.org/obo/CHEBI_51086 3_STAR HP:0011263 biolink:PhenotypicFeature Forward facing earlobe Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear. UMLS:C4021177 hp.json Forward facing earlobe|Lobe, forward facing http://purl.obolibrary.org/obo/HP_0011263 HP:0011264 biolink:PhenotypicFeature Discontinuous ascending root of helix Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid. UMLS:C4021176 hp.json Helix, discontinuous ascending root http://purl.obolibrary.org/obo/HP_0011264 HP:0011265 biolink:PhenotypicFeature Cleft earlobe Discontinuity in the convexity of the inferior margin of the lobe. UMLS:C4023440 hp.json Cleft earlobe http://purl.obolibrary.org/obo/HP_0011265 hposlim_core HP:0011266 biolink:PhenotypicFeature Microtia, first degree Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. UMLS:C4021175 hp.json First-degree microtia http://purl.obolibrary.org/obo/HP_0011266 HP:0011267 biolink:PhenotypicFeature Microtia, third degree Presence of some auricular structures, but none of these structures conform to recognized ear components. UMLS:C4021174|UMLS:C4280331 hp.json Abnormal shape/structure of ear|Third-degree microtia http://purl.obolibrary.org/obo/HP_0011267 HP:0011268 biolink:PhenotypicFeature Absent tragus Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. UMLS:C4023439 hp.json http://purl.obolibrary.org/obo/HP_0011268 hposlim_core HP:0011269 biolink:PhenotypicFeature Bifid tragus Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak. UMLS:C4021173 hp.json Tragus, bifid|Notched tragus http://purl.obolibrary.org/obo/HP_0011269 HP:0011260 biolink:PhenotypicFeature Darwin notch of helix Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix. UMLS:C4021180 hp.json Helix, Darwin notch http://purl.obolibrary.org/obo/HP_0011260 HP:0011261 biolink:PhenotypicFeature Darwin tubercle of helix Small expansion of the helical fold at the junction of the superior and descending portions of the helix. UMLS:C4021179 hp.json Helix, Darwin tubercle http://purl.obolibrary.org/obo/HP_0011261 CHEBI:63046 biolink:ChemicalSubstance emulsifier The chemical role played by a substance that stabilizes an emulsion by increasing its kinetic stability. hp.json emulgent|emulgents|emulsifiers http://purl.obolibrary.org/obo/CHEBI_63046 3_STAR HP:0011262 biolink:PhenotypicFeature Crimped helix Linear, circumferential indentation in the convexity of the outer surface of the helix. UMLS:C4021178 hp.json Helix, crimped|Indented helix http://purl.obolibrary.org/obo/HP_0011262 GO:0016774 biolink:MolecularActivity phosphotransferase activity, carboxyl group as acceptor Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to a carboxyl group (acceptor). EC:2.7.2.- hp.json http://purl.obolibrary.org/obo/GO_0016774 GO:0016772 biolink:MolecularActivity transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). EC:2.7.-.- hp.json http://purl.obolibrary.org/obo/GO_0016772 goslim_chembl UBERON:5003625 biolink:AnatomicalEntity manual digit 5 plus metapodial segment A subdivision of the autopod consisting of manual digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json manual digit 5 ( phalanges plus metapodial) plus soft tissue|manual digit 5 ray|manual digit V plus metapodial segment|manual digit 5|manual digit 5 digitopodial subdivision http://purl.obolibrary.org/obo/UBERON_5003625 UBERON:5003624 biolink:AnatomicalEntity manual digit 4 plus metapodial segment A subdivision of the autopod consisting of manual digit 4 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json manual digit 4 ( phalanges plus metapodial) plus soft tissue|manual digit 4 ray|manual digit IV plus metapodial segment|manual digit 4|manual digit 4 digitopodial subdivision http://purl.obolibrary.org/obo/UBERON_5003624 HP:0011410 biolink:PhenotypicFeature Caesarian section Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). SNOMEDCT_US:200144004|UMLS:C1384674 hp.json Caesarian section http://purl.obolibrary.org/obo/HP_0011410 HP:0011411 biolink:PhenotypicFeature Forceps delivery UMLS:C0341808 hp.json Forceps delivery http://purl.obolibrary.org/obo/HP_0011411 HP:0011412 biolink:PhenotypicFeature Ventouse delivery Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. SNOMEDCT_US:61586001|UMLS:C0042225|MSH:D014620|UMLS:C1456852|SNOMEDCT_US:10761101000119105|UMLS:C2825567 hp.json Vacuum-assisted vaginal delivery|Vacuum extraction http://purl.obolibrary.org/obo/HP_0011412 UBERON:5003623 biolink:AnatomicalEntity manual digit 3 plus metapodial segment A subdivision of the autopod consisting of manual digit 3 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json manual digit 3 ( phalanges plus metapodial) plus soft tissue|manual digit III plus metapodial segment|manual digit 3 ray|manual digit 3|manual digit 3 digitopodial subdivision http://purl.obolibrary.org/obo/UBERON_5003623 UBERON:5003622 biolink:AnatomicalEntity manual digit 2 plus metapodial segment A subdivision of the autopod consisting of manual digit 2 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json manual digit II plus metapodial segment|manual digit 2 ( phalanges plus metapodial) plus soft tissue|manual digit 2 ray|manual digit 2|manual digit 2 digitopodial subdivision http://purl.obolibrary.org/obo/UBERON_5003622 HP:0011413 biolink:PhenotypicFeature Shoulder dystocia Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. SNOMEDCT_US:89700002|UMLS:C0269825 hp.json http://purl.obolibrary.org/obo/HP_0011413 GO:1905492 biolink:BiologicalProcess positive regulation of branching morphogenesis of a nerve Any process that activates or increases the frequency, rate or extent of branching morphogenesis of a nerve. hp.json up-regulation of branching morphogenesis of a nerve|activation of branching morphogenesis of a nerve|upregulation of branching morphogenesis of a nerve|up regulation of branching morphogenesis of a nerve http://purl.obolibrary.org/obo/GO_1905492 HP:0410225 biolink:PhenotypicFeature Increased anti-drug IgE antibody level Increased level of IgE antibody against a drug or class of drugs, such as antibiotics. hp.json Increased level of anti-drug IgE antibody http://purl.obolibrary.org/obo/HP_0410225 HP:0410224 biolink:PhenotypicFeature Increased anti-bacteria IgE antibody level Increased level of IgE antibody against bacteria. hp.json Increased level of anti-bacteria IgE antibody http://purl.obolibrary.org/obo/HP_0410224 HP:0410223 biolink:PhenotypicFeature Increased anti-dust mite IgE antibody level Increased level of IgE antibody against dust mites, such as house dust mites. hp.json Increased level of anti-dust mite IgE antibody http://purl.obolibrary.org/obo/HP_0410223 HP:0410222 biolink:PhenotypicFeature Increased anti-seafood IgE antibody level Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone. hp.json Increased level of anti-seafood IgE antibody http://purl.obolibrary.org/obo/HP_0410222 HP:0410229 biolink:PhenotypicFeature Increased anti-gluten IgE antibody level Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye. hp.json Increased level of anti-gluten IgE antibody http://purl.obolibrary.org/obo/HP_0410229 HP:0410228 biolink:PhenotypicFeature Increased anti-plant based food allergen IgE antibody level Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits. hp.json Increased level of anti-plant based food allergen IgE antibody http://purl.obolibrary.org/obo/HP_0410228 HP:0410227 biolink:PhenotypicFeature Increased anti-food allergen IgE antibody level Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish. hp.json Increased level of anti-food allergen IgE antibody http://purl.obolibrary.org/obo/HP_0410227 HP:0410226 biolink:PhenotypicFeature Increased anti-feather IgE antibody level Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers. hp.json http://purl.obolibrary.org/obo/HP_0410226 HP:0011414 biolink:PhenotypicFeature Hydropic placenta An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. SNOMEDCT_US:75094005|UMLS:C0270254 hp.json Hydrops of the placenta http://purl.obolibrary.org/obo/HP_0011414 HP:0011415 biolink:PhenotypicFeature Calcified placenta UMLS:C0426234|SNOMEDCT_US:249174002 hp.json http://purl.obolibrary.org/obo/HP_0011415 HP:0011416 biolink:PhenotypicFeature Placental infarction SNOMEDCT_US:268585006|UMLS:C0554393 hp.json Placental thromboembolism http://purl.obolibrary.org/obo/HP_0011416 HP:0011417 biolink:PhenotypicFeature Long umbilical cord Increased length of the umbilical cord. UMLS:C0405028|SNOMEDCT_US:237261008 hp.json Long umbilical cord http://purl.obolibrary.org/obo/HP_0011417 HP:0410221 biolink:PhenotypicFeature Increased anti-animal protein IgE antibody level Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine. hp.json Increased level of anti-animal protein IgE antibody http://purl.obolibrary.org/obo/HP_0410221 HP:0011418 biolink:PhenotypicFeature Abnormal insertion of umbilical cord Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta. MSH:D055949|SNOMEDCT_US:79668009|UMLS:C0269852 hp.json http://purl.obolibrary.org/obo/HP_0011418 HP:0011419 biolink:PhenotypicFeature Placental abruption Separation of the placenta from the uterus wall before delivery. SNOMEDCT_US:405736009|MSH:D000037|UMLS:C0000832|SNOMEDCT_US:415105001 hp.json Abruptio placentae http://purl.obolibrary.org/obo/HP_0011419 HP:0410220 biolink:PhenotypicFeature Increased anti-dairy protein IgE antibody level Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products. hp.json Increased anti-dairy IgE antibody level http://purl.obolibrary.org/obo/HP_0410220 CHEBI:28616 biolink:ChemicalSubstance carbamic acid A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. CAS:463-77-4|PDBeChem:OUT|CAS:463-77-4|Beilstein:1734754|Wikipedia:Carbamic_acid|KEGG:C01563|Gmelin:130345|DrugBank:DB04261 hp.json CARBAMIC ACID|Carbamate|Aminoameisensaeure|carbamic acid|Aminoformic acid|Carbamidsaeure|Carbamic acid http://purl.obolibrary.org/obo/CHEBI_28616 3_STAR HP:0011400 biolink:PhenotypicFeature Abnormal CNS myelination An abnormality of myelination of nerves in the central nervous system. UMLS:C4021152 hp.json Abnormal formation of myelin sheaths http://purl.obolibrary.org/obo/HP_0011400 HP:0011401 biolink:PhenotypicFeature Delayed peripheral myelination Delayed myelination in the peripheral nervous system. UMLS:C4023374 hp.json http://purl.obolibrary.org/obo/HP_0011401 HP:0011402 biolink:PhenotypicFeature Demyelinating sensory neuropathy Demyelination of peripheral sensory nerves. UMLS:C4023373 hp.json http://purl.obolibrary.org/obo/HP_0011402 HP:0410219 biolink:PhenotypicFeature Hypoplasia of mandible relative to maxilla Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw). hp.json Disorder of mandibular and maxillary dental arch relationship http://purl.obolibrary.org/obo/HP_0410219 HP:0410214 biolink:PhenotypicFeature Hypercapnia in cord blood Abnormally elevated blood carbon dioxide (CO2) level in the cord blood. hp.json High cord blood carbon dioxide level http://purl.obolibrary.org/obo/HP_0410214 HP:0410213 biolink:PhenotypicFeature Hypoxemia in cord blood An abnormally low level of blood oxygen in the cord blood. hp.json Low cord blood oxygen level http://purl.obolibrary.org/obo/HP_0410213 HP:0410212 biolink:PhenotypicFeature Hyperoxemia in cord blood An abnormally high level of blood oxygen in the cord blood. hp.json High cord blood oxygen level http://purl.obolibrary.org/obo/HP_0410212 HP:0410211 biolink:PhenotypicFeature Abnormal blood gas level in cord blood hp.json http://purl.obolibrary.org/obo/HP_0410211 HP:0410218 biolink:PhenotypicFeature Hypoplasia of maxilla relative to mandible Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw). hp.json Disorder of maxillary and mandibular dental arch relationship http://purl.obolibrary.org/obo/HP_0410218 HP:0410217 biolink:PhenotypicFeature Reduced blood 5-methyltetrahydrofolate level A decreased concentration of 5-methyltetrahydrofolate in the blood. hp.json Reduced serum methylfolate Level http://purl.obolibrary.org/obo/HP_0410217 HP:0410216 biolink:PhenotypicFeature Abnormal blood 5-methyltetrahydrofolate level An abnormal concentration of 5-methyltetrahydrofolate in the blood. hp.json Abnormal serum methylfolate Level http://purl.obolibrary.org/obo/HP_0410216 HP:0410215 biolink:PhenotypicFeature Hypocapnia in cord blood Abnormally decreased blood carbon dioxide (CO2) level in the cord blood. hp.json Low cord blood carbon dioxide level http://purl.obolibrary.org/obo/HP_0410215 HP:0011403 biolink:PhenotypicFeature Abnormal umbilical cord blood vessel morphology UMLS:C4023372 hp.json Abnormal umbilical cord blood vessels http://purl.obolibrary.org/obo/HP_0011403 HP:0011404 biolink:PhenotypicFeature Lethal short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth. UMLS:C4021151 hp.json Lethal short-trunk dwarfism http://purl.obolibrary.org/obo/HP_0011404 HP:0011405 biolink:PhenotypicFeature Childhood onset short-limb short stature UMLS:C1867487 hp.json Short-limb dwarfism identifiable during childhood http://purl.obolibrary.org/obo/HP_0011405 HP:0011406 biolink:PhenotypicFeature Infancy onset short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. UMLS:C1846061 hp.json Short-trunk dwarfism, identifiable in infancy http://purl.obolibrary.org/obo/HP_0011406 HP:0410210 biolink:PhenotypicFeature Abnormal cord blood measurement An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level. hp.json http://purl.obolibrary.org/obo/HP_0410210 HP:0011407 biolink:PhenotypicFeature Proportionate tall stature UMLS:C4023371 hp.json http://purl.obolibrary.org/obo/HP_0011407 HP:0011408 biolink:PhenotypicFeature Moderate intrauterine growth retardation Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age. UMLS:C4023370 hp.json http://purl.obolibrary.org/obo/HP_0011408 HP:0011409 biolink:PhenotypicFeature Abnormal placental membrane morphology Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix. UMLS:C4023369 hp.json Abnormality of placental membranes http://purl.obolibrary.org/obo/HP_0011409 HP:0410247 biolink:PhenotypicFeature Increased anti-animal dander IgE antibody level Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats. hp.json Increased level of anti-dander IgE antibody http://purl.obolibrary.org/obo/HP_0410247 HP:0410246 biolink:PhenotypicFeature Increased circulating IgD level An abnormally increased level of immunoglobulin D in blood. hp.json Increased serum IgD|Increased levels of IgD|Elevated IgD|Increased IgD level|IgD hypergammaglobulinemia|Elevated serum IgD http://purl.obolibrary.org/obo/HP_0410246 HP:0410245 biolink:PhenotypicFeature Decreased circulating IgD An abnormally decreased level of immunoglobulin D (IgD) in blood. hp.json Decreased IgD|IgD deficiency|Decreased IgD in blood http://purl.obolibrary.org/obo/HP_0410245 HP:0410244 biolink:PhenotypicFeature Abnormal circulating IgD level An abnormal deviation from normal levels of IgD immunoglobulin in blood. hp.json Abnormal IgD level in blood http://purl.obolibrary.org/obo/HP_0410244 HP:0410249 biolink:PhenotypicFeature Increased anti-alpha-gal IgE antibody level Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat. hp.json Increased anti-galactose-alpha-1, 3 galactose IgE antibody level http://purl.obolibrary.org/obo/HP_0410249 HP:0410248 biolink:PhenotypicFeature Increased anti-house dust mite IgE antibody level Increased level of IgE antibody against house dust mites, a common allergen. hp.json Increased anti-house dust IgE antibody level|Increased level of anti-house dust IgE antibody http://purl.obolibrary.org/obo/HP_0410248 HP:0410243 biolink:PhenotypicFeature Abnormal circulating IgM level An abnormal deviation from normal levels of IgM immunoglobulin in blood. hp.json Abnormal IgM level in blood http://purl.obolibrary.org/obo/HP_0410243 HP:0410242 biolink:PhenotypicFeature Abnormal circulating IgG level An abnormal deviation from normal levels of IgG immunoglobulin in blood. hp.json Abnormal IgG level in blood http://purl.obolibrary.org/obo/HP_0410242 HP:0410241 biolink:PhenotypicFeature Abnormal circulating IgE level An abnormal deviation from normal levels of IgE immunoglobulin in blood. hp.json Abnormal IgE level in blood http://purl.obolibrary.org/obo/HP_0410241 HP:0410240 biolink:PhenotypicFeature Abnormal circulating IgA level An abnormal deviation from normal levels of IgA immunoglobulin in blood. hp.json Abnormal IgA level in blood http://purl.obolibrary.org/obo/HP_0410240 GO:2000818 biolink:BiologicalProcess negative regulation of myoblast proliferation Any process that stops, prevents or reduces the frequency, rate or extent of myoblast proliferation. hp.json http://purl.obolibrary.org/obo/GO_2000818 HP:0410236 biolink:PhenotypicFeature Increased anti-venom IgE antibody level Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets. hp.json http://purl.obolibrary.org/obo/HP_0410236 HP:0410235 biolink:PhenotypicFeature Increased anti-insect IgE antibody level Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches. hp.json http://purl.obolibrary.org/obo/HP_0410235 HP:0410234 biolink:PhenotypicFeature Increased anti-parasite IgE antibody level Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii. hp.json http://purl.obolibrary.org/obo/HP_0410234 HP:0410233 biolink:PhenotypicFeature Increased anti-meat allergen IgE antibody level Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken. hp.json http://purl.obolibrary.org/obo/HP_0410233 HP:0410239 biolink:PhenotypicFeature Positive urine norcotinine test Detection of norcotinine, a metabolite of nicotine, in urine. hp.json http://purl.obolibrary.org/obo/HP_0410239 HP:0410238 biolink:PhenotypicFeature Increased anti-plant product IgE antibody level Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen. hp.json http://purl.obolibrary.org/obo/HP_0410238 HP:0410232 biolink:PhenotypicFeature Increased anti-fungi IgE antibody level Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota. hp.json Increased anti-fungal IgE antibody level|Increased anti-fungus IgE antibody level http://purl.obolibrary.org/obo/HP_0410232 HP:0410231 biolink:PhenotypicFeature Increased anti-egg IgE antibody level Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid. hp.json http://purl.obolibrary.org/obo/HP_0410231 CARO:0000000 biolink:NamedThing anatomical entity hp.json http://purl.obolibrary.org/obo/CARO_0000000 HP:0410230 biolink:PhenotypicFeature Increased anti-nut food product IgE antibody level Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds. hp.json http://purl.obolibrary.org/obo/HP_0410230 CARO:0000003 biolink:NamedThing connected anatomical structure hp.json http://purl.obolibrary.org/obo/CARO_0000003 HP:0011450 biolink:PhenotypicFeature Unusual CNS infection A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. MSH:D002494|UMLS:C0007684|SNOMEDCT_US:128117002 hp.json Central nervous system infection http://purl.obolibrary.org/obo/HP_0011450 HP:0011451 biolink:PhenotypicFeature Primary microcephaly Head circumference below 2 standard deviations below the mean for age and gender at birth. UMLS:C4020749|UMLS:C2677180 hp.json Congenital microcephaly|Small head present at birth|Decreased head circumference present at birth|Small cranium present at birth|Head circumference small for gestational age|Congenital small head|Congenital small head circumference|Small skull present at birth|Congenital small skull|Microcephaly present at birth|Congenital decreased head circumference|Small head circumference present at birth http://purl.obolibrary.org/obo/HP_0011451 HP:0011452 biolink:PhenotypicFeature Functional abnormality of the middle ear An abnormality of the function of the middle ear. UMLS:C4021846 hp.json Functional abnormality of the middle ear http://purl.obolibrary.org/obo/HP_0011452 HP:0011453 biolink:PhenotypicFeature Abnormality of the incus An abnormality of the incus, an ossicle in the middle ear. UMLS:C4023350 hp.json http://purl.obolibrary.org/obo/HP_0011453 CARO:0000006 biolink:NamedThing material anatomical entity hp.json http://purl.obolibrary.org/obo/CARO_0000006 HP:0011454 biolink:PhenotypicFeature Abnormality of the malleus An abnormality of the malleus, an ossicle in the middle ear. UMLS:C4023349 hp.json http://purl.obolibrary.org/obo/HP_0011454 HP:0011455 biolink:PhenotypicFeature Absent malleus Aplasia of the malleus. SNOMEDCT_US:300169003|UMLS:C0576900 hp.json http://purl.obolibrary.org/obo/HP_0011455 HP:0011456 biolink:PhenotypicFeature Absent stapes Aplasia of the stapes. UMLS:C0576909|SNOMEDCT_US:300178009 hp.json http://purl.obolibrary.org/obo/HP_0011456 HP:0011457 biolink:PhenotypicFeature Loss of eyelashes This term refers to the loss of eyelashes that were previously present. SNOMEDCT_US:34887006|UMLS:C0271321 hp.json Eyelashes fell out|Missing eyelashes|Milphosis|Ciliary Madarosis|Loss of eyelashes http://purl.obolibrary.org/obo/HP_0011457 HP:0410269 biolink:PhenotypicFeature Labial hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip. hp.json http://purl.obolibrary.org/obo/HP_0410269 HP:0410268 biolink:PhenotypicFeature Spleen hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen. hp.json Splenic hemangioma http://purl.obolibrary.org/obo/HP_0410268 HP:0410267 biolink:PhenotypicFeature Intestinal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel. hp.json Intestinal hemangiomas|Bowel hemangioma http://purl.obolibrary.org/obo/HP_0410267 HP:0410266 biolink:PhenotypicFeature Visceral hemangioma A hemangioma arising from within visceral structures, the internal organs of the body. hp.json http://purl.obolibrary.org/obo/HP_0410266 HP:0410261 biolink:PhenotypicFeature Wide space between 4th and 5th toe A widely spaced gap between the fourth toe and the fifth (pinky) toe. hp.json Wide space between the 4th and 5th toe http://purl.obolibrary.org/obo/HP_0410261 HP:0011458 biolink:PhenotypicFeature Abdominal symptom A subjective manifestation of disease localized to the abdomen. UMLS:C0740651 hp.json http://purl.obolibrary.org/obo/HP_0011458 HP:0410260 biolink:PhenotypicFeature Asymmetrical gluteal crease The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg. hp.json Asymmetrical gluteal sulcus|Asymmetrical buttock crease|Asymmetrical horizontal gluteal crease http://purl.obolibrary.org/obo/HP_0410260 HP:0011459 biolink:PhenotypicFeature Esophageal carcinoma The presence of a carcinoma of the esophagus. SNOMEDCT_US:372138000|UMLS:C0152018 hp.json http://purl.obolibrary.org/obo/HP_0011459 HP:0410265 biolink:PhenotypicFeature Supraglottic hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords. hp.json http://purl.obolibrary.org/obo/HP_0410265 HP:0410264 biolink:PhenotypicFeature Subglottic hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway. hp.json Airway hemangioma http://purl.obolibrary.org/obo/HP_0410264 HP:0410263 biolink:PhenotypicFeature Brain imaging abnormality An anomaly of metabolism or structure of the brain identified by imaging. hp.json Abnormal brain imaging http://purl.obolibrary.org/obo/HP_0410263 HP:0410262 biolink:PhenotypicFeature Lower cranial nerve dysfunction A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves. hp.json Abnormal lower cranial nerve function http://purl.obolibrary.org/obo/HP_0410262 HP:0011440 biolink:PhenotypicFeature Alcohol-induced rhabdomyolysis Rhabdomyolysis induced by intake of alcohol. UMLS:C4023355 hp.json http://purl.obolibrary.org/obo/HP_0011440 HP:0011441 biolink:PhenotypicFeature Abnormal medulla oblongata morphology An abnormality of the medulla oblongata, the lower half of the brainstem. UMLS:C4021148 hp.json Abnormality of the medulla oblongata|Abnormality of the myencephalon http://purl.obolibrary.org/obo/HP_0011441 HP:0011442 biolink:PhenotypicFeature Abnormal central motor function An anomaly of the control or production of movement in the central nervous system. UMLS:C4023354 hp.json Abnormality of central motor function http://purl.obolibrary.org/obo/HP_0011442 HP:0011443 biolink:PhenotypicFeature Abnormality of coordination UMLS:C4023353 hp.json Coordination issue|Abnormality of coordination http://purl.obolibrary.org/obo/HP_0011443 HP:0011444 biolink:PhenotypicFeature Decorticate rigidity A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus. UMLS:C0231521|SNOMEDCT_US:36423000|MSH:D003655 hp.json http://purl.obolibrary.org/obo/HP_0011444 HP:0011445 biolink:PhenotypicFeature Athetoid cerebral palsy A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone. SNOMEDCT_US:75019001|UMLS:C0270742|MSH:D002547|SNOMEDCT_US:230780007 hp.json Dyskinetic cerebral palsy http://purl.obolibrary.org/obo/HP_0011445 HP:0011446 biolink:PhenotypicFeature Abnormality of higher mental function Cognitive, psychiatric or memory anomaly. UMLS:C4023352 hp.json http://purl.obolibrary.org/obo/HP_0011446 HP:0410258 biolink:PhenotypicFeature Neutrophilia in absence of infection An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders. hp.json http://purl.obolibrary.org/obo/HP_0410258 HP:0410257 biolink:PhenotypicFeature Neutrophilia in presence of infection An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus. hp.json http://purl.obolibrary.org/obo/HP_0410257 HP:0410256 biolink:PhenotypicFeature Infection associated neutropenia Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan. hp.json http://purl.obolibrary.org/obo/HP_0410256 HP:0410255 biolink:PhenotypicFeature Transient neutropenia A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity. hp.json http://purl.obolibrary.org/obo/HP_0410255 HP:0410259 biolink:PhenotypicFeature Hepatopulmonary fusion Fusion of the liver with the lung. hp.json Hepatic pulmonary fusion http://purl.obolibrary.org/obo/HP_0410259 HP:0011447 biolink:PhenotypicFeature Hyposegmentation of neutrophil nuclei Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. SNOMEDCT_US:85559002|UMLS:C4023351|MSH:D010381|UMLS:C0030779 hp.json Hyposegmentation of neutrophil nuclei in peripheral blood|Pelger-Huet anomaly http://purl.obolibrary.org/obo/HP_0011447 HP:0011448 biolink:PhenotypicFeature Ankle clonus Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. SNOMEDCT_US:39055007|UMLS:C0238651 hp.json Abnormal rhythmic movements of ankle http://purl.obolibrary.org/obo/HP_0011448 HP:0011449 biolink:PhenotypicFeature Knee clonus Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes. UMLS:C0520823|SNOMEDCT_US:54360005 hp.json Patellar clonus http://purl.obolibrary.org/obo/HP_0011449 HP:0410254 biolink:PhenotypicFeature Cyclic neutropenia in myeloid maturation arrest in bone marrow Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. hp.json http://purl.obolibrary.org/obo/HP_0410254 HP:0410253 biolink:PhenotypicFeature Myeloid maturation arrest Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. hp.json Myeloid maturation arrest in bone marrow http://purl.obolibrary.org/obo/HP_0410253 HP:0410252 biolink:PhenotypicFeature Chronic neutropenia Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months. hp.json http://purl.obolibrary.org/obo/HP_0410252 HP:0410251 biolink:PhenotypicFeature Abnormal L-selectin shedding An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection. hp.json http://purl.obolibrary.org/obo/HP_0410251 HP:0011430 biolink:PhenotypicFeature Hypoplasia of fetal nasal bone On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637). UMLS:C4023363 hp.json Underdeveloped fetal nose bone|Hypoplasia of foetal nasal bone|Underdeveloped foetal nose bone http://purl.obolibrary.org/obo/HP_0011430 HP:0011431 biolink:PhenotypicFeature Fetal fifth finger clinodactyly Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637). UMLS:C4023362|UMLS:C4280326 hp.json Foetal pinkie finger curvature|Foetal little finger curvature|Foetal fifth finger clinodactyly|Foetal pinky finger curvature|Fetal pinkie finger curvature|Fetal pinky finger curvature|Fetal little finger curvature http://purl.obolibrary.org/obo/HP_0011431 HP:0011432 biolink:PhenotypicFeature High maternal circulating alpha-fetoprotein concentration Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy. UMLS:C4023361 hp.json Increased maternal serum alpha-fetoprotein level|High maternal serum alpha-fetoprotein|MSAFP MoM>2.5|High maternal serum alpha-fetoprotein MoM|High MSAFP MoM http://purl.obolibrary.org/obo/HP_0011432 HP:0410290 biolink:PhenotypicFeature Positive urine norpropoxyphene test Detection of norpropoxyphene in urine. hp.json http://purl.obolibrary.org/obo/HP_0410290 HP:0011433 biolink:PhenotypicFeature High maternal circulating chorionic gonadotropin concentration An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. UMLS:C4021150 hp.json High maternal serum hCG|High maternal serum chorionic gonadotropin http://purl.obolibrary.org/obo/HP_0011433 HP:0011434 biolink:PhenotypicFeature Low maternal circulating chorionic gonadotropin concentration An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. UMLS:C4021149 hp.json Low maternal serum chorionic gonadotropin|Low maternal serum hCG http://purl.obolibrary.org/obo/HP_0011434 HP:0011435 biolink:PhenotypicFeature Low maternal circulating PAPP-A concentration An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age. UMLS:C4023360 hp.json Low maternal serum PAPP-A http://purl.obolibrary.org/obo/HP_0011435 HP:0410289 biolink:PhenotypicFeature Hypoamylasemia Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. hp.json Decreased circulating amylase level http://purl.obolibrary.org/obo/HP_0410289 HP:0410288 biolink:PhenotypicFeature Hyperamylasemia Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. hp.json Increased circulating amylase level http://purl.obolibrary.org/obo/HP_0410288 HP:0410283 biolink:PhenotypicFeature Positive blood acetaminophen test Detection of acetaminophen in the blood. hp.json Positive blood paracetamol test|Positive blood Tylenol test http://purl.obolibrary.org/obo/HP_0410283 HP:0011436 biolink:PhenotypicFeature Abnormal maternal serum screening An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. UMLS:C4023359 hp.json http://purl.obolibrary.org/obo/HP_0011436 HP:0011437 biolink:PhenotypicFeature Maternal autoimmune disease A medical history of a fetus or child born to a mother with an autoimmune disease. UMLS:C4023358 hp.json http://purl.obolibrary.org/obo/HP_0011437 HP:0410282 biolink:PhenotypicFeature Abnormal circulating amylase level A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. hp.json http://purl.obolibrary.org/obo/HP_0410282 HP:0011438 biolink:PhenotypicFeature Maternal teratogenic exposure A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. UMLS:C4023357 hp.json http://purl.obolibrary.org/obo/HP_0011438 HP:0410281 biolink:PhenotypicFeature Dyspepsia A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur. hp.json Indigestion http://purl.obolibrary.org/obo/HP_0410281 HP:0410280 biolink:PhenotypicFeature Pediatric onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. hp.json Paediatric onset|Onset before adulthood http://purl.obolibrary.org/obo/HP_0410280 HP:0011439 biolink:PhenotypicFeature Anesthetic-induced rhabdomylosis Rhabdomyolysis induced by anesthesia. UMLS:C4023356 hp.json http://purl.obolibrary.org/obo/HP_0011439 HP:0410287 biolink:PhenotypicFeature Intrathoracic hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region. hp.json Chest hemangioma http://purl.obolibrary.org/obo/HP_0410287 HP:0410286 biolink:PhenotypicFeature Positive blood molindone test Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia. hp.json Positive blood Moban test http://purl.obolibrary.org/obo/HP_0410286 HP:0410285 biolink:PhenotypicFeature Positive meconium methadone test Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium. hp.json http://purl.obolibrary.org/obo/HP_0410285 HP:0410284 biolink:PhenotypicFeature Positive norpropoxyphene blood test Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene. hp.json http://purl.obolibrary.org/obo/HP_0410284 HP:0011420 biolink:PhenotypicFeature Age of death The age group when the cessation of life happens. UMLS:C1546180 hp.json http://purl.obolibrary.org/obo/HP_0011420 HP:0011421 biolink:PhenotypicFeature Death in adolescence Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years). UMLS:C4023368 hp.json Death in adolescence http://purl.obolibrary.org/obo/HP_0011421 HP:0011422 biolink:PhenotypicFeature Abnormal blood chloride concentration An abnormality of chloride homeostasis or concentration in the body. UMLS:C4023367 hp.json Abnormality of chloride homeostasis|Abnormal blood Cl concentration|Abnormal blood Cl- concentration http://purl.obolibrary.org/obo/HP_0011422 HP:0011423 biolink:PhenotypicFeature Hyperchloremia An abnormally increased chloride concentration in the blood. SNOMEDCT_US:74450001|UMLS:C0085679 hp.json http://purl.obolibrary.org/obo/HP_0011423 HP:0011424 biolink:PhenotypicFeature Increased serum zinc An increased consentration of zinc in the blood. UMLS:C0856208|UMLS:C0854520 hp.json Hyperzincemia http://purl.obolibrary.org/obo/HP_0011424 HP:0410279 biolink:PhenotypicFeature Atrophic pituitary gland Partial or complete wasting (loss) of the pituitary gland. hp.json Pituitary gland atrophy|Atrophic pituitary http://purl.obolibrary.org/obo/HP_0410279 HP:0410278 biolink:PhenotypicFeature Pituitary gland cyst A fluid-filled sacs that develop on or near the pituitary gland. hp.json Cyst of the pituitary gland http://purl.obolibrary.org/obo/HP_0410278 HP:0410277 biolink:PhenotypicFeature Sternal pit A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum. hp.json http://purl.obolibrary.org/obo/HP_0410277 HP:0011425 biolink:PhenotypicFeature Fetal ultrasound soft marker An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. UMLS:C4023366 hp.json Foetal ultrasound soft marker http://purl.obolibrary.org/obo/HP_0011425 HP:0410272 biolink:PhenotypicFeature Vulvar hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva. hp.json http://purl.obolibrary.org/obo/HP_0410272 HP:0011426 biolink:PhenotypicFeature Fetal choroid plexus cysts Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637). SNOMEDCT_US:462165005|UMLS:C3532166 hp.json Foetal choroid plexus cysts http://purl.obolibrary.org/obo/HP_0011426 HP:0410271 biolink:PhenotypicFeature Laryngeal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions. hp.json Throat hemangioma http://purl.obolibrary.org/obo/HP_0410271 HP:0410270 biolink:PhenotypicFeature Esophageal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus. hp.json http://purl.obolibrary.org/obo/HP_0410270 HP:0011427 biolink:PhenotypicFeature Enlarged fetal cisterna magna The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637). UMLS:C4023365 hp.json Enlarged foetal cisterna magna http://purl.obolibrary.org/obo/HP_0011427 HP:0011428 biolink:PhenotypicFeature Short fetal femur length A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). UMLS:C0743924 hp.json Short foetal femur length|Short foetal thigh bone length|Short fetal thigh bone length http://purl.obolibrary.org/obo/HP_0011428 HP:0011429 biolink:PhenotypicFeature Short fetal humerus length A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). UMLS:C4023364 hp.json Short foetal humerus length|Short foetal long bone in upper arm length|Short fetal long bone in upper arm length http://purl.obolibrary.org/obo/HP_0011429 HP:0410276 biolink:PhenotypicFeature Supraumbilical raphe An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). hp.json Midline supraumbilical raphe http://purl.obolibrary.org/obo/HP_0410276 HP:0410275 biolink:PhenotypicFeature Lumbosacral hemangioma A spinal cord hemangioma located in the lumbosacral spine region. hp.json Lumbar/sacral hemangioma http://purl.obolibrary.org/obo/HP_0410275 HP:0410274 biolink:PhenotypicFeature Paraspinal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine. hp.json http://purl.obolibrary.org/obo/HP_0410274 HP:0410273 biolink:PhenotypicFeature Retropharyngeal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx. NCIT:C3085 hp.json http://purl.obolibrary.org/obo/HP_0410273 GO:0051236 biolink:BiologicalProcess establishment of RNA localization The directed movement of RNA to a specific location. hp.json establishment of RNA localisation|RNA recruitment|RNA positioning http://purl.obolibrary.org/obo/GO_0051236 GO:0051234 biolink:BiologicalProcess establishment of localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. hp.json establishment of localisation http://purl.obolibrary.org/obo/GO_0051234 goslim_pir|goslim_flybase_ribbon|goslim_mouse|goslim_agr CHEBI:28689 biolink:ChemicalSubstance dehydroepiandrosterone An androstanoid that is androst-5-ene substituted by a beta-hydroxy group at position 3 and an oxo group at position 17. It is a naturally occurring steroid hormone produced by the adrenal glands. CAS:53-43-0|PMID:24256992|CAS:53-43-0|Drug_Central:795|LIPID_MAPS_instance:LMST02020021|PMID:14662261|PMID:24424045|HMDB:HMDB0000077|Reaxys:2058110|Wikipedia:Dehydroepiandrosterone|MetaCyc:3-BETA-HYDROXYANDROST-5-EN-17-ONE|KEGG:C01227|DrugBank:DB01708|KEGG:D08409|PDBeChem:AND|PMID:18634257 hp.json 3-BETA-HYDROXY-5-ANDROSTEN-17-ONE|DHEA|DHA|3beta-Hydroxyandrost-5-en-17-one|Dehydroisoandrosterone|Dehydroepiandrosterone|Prasterone|Intrarosa|3beta-hydroxyandrost-5-en-17-one|3beta-hydroxyandrost-5-en-17-one|3beta-hydroxyandrost-5-en-17-one http://purl.obolibrary.org/obo/CHEBI_28689 3_STAR GO:0051239 biolink:BiologicalProcess regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. hp.json http://purl.obolibrary.org/obo/GO_0051239 GO:0016903 biolink:MolecularActivity oxidoreductase activity, acting on the aldehyde or oxo group of donors Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. EC:1.2.-.- hp.json oxidoreductase activity, acting on the aldehyde or oxo group of donors, other acceptors http://purl.obolibrary.org/obo/GO_0016903 CHEBI:26020 biolink:ChemicalSubstance phosphate Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom. hp.json phosphates|phosphates http://purl.obolibrary.org/obo/CHEBI_26020 3_STAR GO:2000860 biolink:NamedThing positive regulation of aldosterone secretion hp.json http://purl.obolibrary.org/obo/GO_2000860 UBERON:0008460 biolink:AnatomicalEntity prezygapophysis of thoracic vertebra A prezygapophysis that is part of a thoracic vertebra. FMA:9155 hp.json superior apophyseal process|cranial articular process of thoracic vertebra|processus articularis (zygapophysis) thoracicus superior|superior articular process of thoracic vertebra|superior zygapophysis http://purl.obolibrary.org/obo/UBERON_0008460 NCBITaxon:6960 biolink:OrganismalEntity Hexapoda GC_ID:1 hp.json Uniramia|Atelocerata|Tracheata|insects|hexapods http://purl.obolibrary.org/obo/NCBITaxon_6960 UBERON:0008461 biolink:AnatomicalEntity postzygapophysis of lumbar vertebra An postzygapophysis that is part of a lumbar vertebra. FMA:16127 hp.json inferior articular process of lumbar vertebra|caudal articular process of lumbar vertebra http://purl.obolibrary.org/obo/UBERON_0008461 UBERON:0008462 biolink:AnatomicalEntity postzygapophysis of cervical vertebra An postzygapophysis that is part of a cervical vertebra. FMA:23970 hp.json inferior articular process of cervical vertebra http://purl.obolibrary.org/obo/UBERON_0008462 UBERON:0008463 biolink:AnatomicalEntity postzygapophysis of thoracic vertebra An postzygapophysis that is part of a thoracic vertebra. FMA:9156 hp.json inferior apophyseal process|processus articularis (zygapophysis) thoracicus inferior|inferior articular process of thoracic vertebra|inferior zygapophysis|caudal articular process of thoracic vertebra http://purl.obolibrary.org/obo/UBERON_0008463 GO:0051247 biolink:BiologicalProcess positive regulation of protein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein. hp.json stimulation of cellular protein metabolic process|up-regulation of cellular protein metabolic process|activation of cellular protein metabolic process|positive regulation of cellular protein metabolism|up-regulation of protein metabolic process|positive regulation of protein metabolism|upregulation of cellular protein metabolic process|up regulation of protein metabolic process|activation of protein metabolic process|positive regulation of cellular protein metabolic process|stimulation of protein metabolic process|up regulation of cellular protein metabolic process|upregulation of protein metabolic process http://purl.obolibrary.org/obo/GO_0051247 GO:0051248 biolink:BiologicalProcess negative regulation of protein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of chemical reactions and pathways involving a protein. hp.json down-regulation of protein metabolic process|down regulation of protein metabolic process|downregulation of cellular protein metabolic process|negative regulation of protein metabolism|inhibition of protein metabolic process|down regulation of cellular protein metabolic process|downregulation of protein metabolic process|inhibition of cellular protein metabolic process|negative regulation of cellular protein metabolism|negative regulation of cellular protein metabolic process|down-regulation of cellular protein metabolic process http://purl.obolibrary.org/obo/GO_0051248 GO:0051246 biolink:BiologicalProcess regulation of protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein. hp.json regulation of protein metabolism http://purl.obolibrary.org/obo/GO_0051246 GO:0004930 biolink:MolecularActivity G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. Reactome:R-HSA-114552|Reactome:R-HSA-167408|Wikipedia:GPCR|Reactome:R-HSA-114558 hp.json orphan GPCR activity|G-protein coupled receptor activity|Epstein-Barr Virus-induced receptor activity|G protein linked receptor activity|orphan G-protein coupled receptor activity|G protein coupled receptor activity|G-protein coupled receptor activity, unknown ligand|Mas proto-oncogene receptor activity|G-protein linked receptor activity|orphan G protein coupled receptor activity|super conserved receptor expressed in brain receptor activity|EBV-induced receptor|receptor activity, G-protein coupled|RDC1 receptor activity|GPCR activity|ligand-dependent GPCR activity|SREB receptor http://purl.obolibrary.org/obo/GO_0004930 goslim_chembl GO:0051249 biolink:BiologicalProcess regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. hp.json http://purl.obolibrary.org/obo/GO_0051249 CHEBI:28694 biolink:ChemicalSubstance copper atom Gmelin:16269|KEGG:C00070|CAS:7440-50-8|CAS:7440-50-8|WebElements:Cu hp.json Cu|Cu|cuivre|Copper|cuprum|Kupfer|copper|29Cu|cobre|copper http://purl.obolibrary.org/obo/CHEBI_28694 3_STAR UBERON:0008457 biolink:AnatomicalEntity prezygapophysis of sacral vertebra A prezygapophysis that is part of a sacral vertebra. FMA:16215 hp.json superior articular process of sacral segment|articular process of sacral segment|processus articularis superior (os sacrum)|superior articular process of sacrum|processus articularis superior ossis sacri|superior articular process of sacral vertebra http://purl.obolibrary.org/obo/UBERON_0008457 UBERON:0008459 biolink:AnatomicalEntity prezygapophysis of cervical vertebra A prezygapophysis that is part of a cervical vertebra. FMA:23969 hp.json superior articular process of cervical segment|superior articular process of cervical vertebra http://purl.obolibrary.org/obo/UBERON_0008459 HP:0410299 biolink:PhenotypicFeature Decreased specific antibody response to polysaccharide vaccine A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410299 HP:0410294 biolink:PhenotypicFeature Decreased specific antibody response to protein vaccine A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410294 HP:0410293 biolink:PhenotypicFeature Absent isohemagglutinin level Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). hp.json Complete or near-complete absence of isohemagglutinins|Absent natural antibody to blood group agents http://purl.obolibrary.org/obo/HP_0410293 GO:0051240 biolink:BiologicalProcess positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. hp.json up regulation of multicellular organismal process|stimulation of multicellular organismal process|up-regulation of multicellular organismal process|activation of multicellular organismal process|upregulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0051240 HP:0410292 biolink:PhenotypicFeature Abnormal isohemagglutinin level An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). hp.json Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)|Abnormal level of natural antibody to blood group agents http://purl.obolibrary.org/obo/HP_0410292 NCBITaxon:38254 biolink:OrganismalEntity Glaucocystophyceae GC_ID:1 hp.json Glaucophyta|algae|Glaucophyceae|glaucocystophytes http://purl.obolibrary.org/obo/NCBITaxon_38254 HP:0410291 biolink:PhenotypicFeature Negativism Opposing or not responding to instructions or external stimuli. hp.json http://purl.obolibrary.org/obo/HP_0410291 HP:0410298 biolink:PhenotypicFeature Partial absence of specific antibody response to hepatitis B vaccine A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410298 HP:0410297 biolink:PhenotypicFeature Partial absence of specific antibody response to tetanus vaccine A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410297 GO:0051241 biolink:BiologicalProcess negative regulation of multicellular organismal process Any process that stops, prevents, or reduces the frequency, rate or extent of an organismal process, the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. hp.json downregulation of multicellular organismal process|down regulation of multicellular organismal process|inhibition of multicellular organismal process|down-regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0051241 HP:0410296 biolink:PhenotypicFeature Complete or near-complete absence of specific antibody response to hepatitis B vaccine The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410296 UBERON:0008456 biolink:AnatomicalEntity prezygapophysis of lumbar vertebra A prezygapophysis that is part of a lumbar vertebra. FMA:16126 hp.json cranial articular process of lumbar vertebra|superior articular process of lumbar vertebra http://purl.obolibrary.org/obo/UBERON_0008456 HP:0410295 biolink:PhenotypicFeature Complete or near-complete absence of specific antibody response to tetanus vaccine The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410295 GO:0051258 biolink:BiologicalProcess protein polymerization The process of creating protein polymers, compounds composed of a large number of component monomers; polymeric proteins may be made up of different or identical monomers. Polymerization occurs by the addition of extra monomers to an existing poly- or oligomeric protein. hp.json protein polymer formation|protein polymer biosynthesis|protein polymer biosynthetic process http://purl.obolibrary.org/obo/GO_0051258 goslim_pir GO:1905432 biolink:BiologicalProcess regulation of retrograde trans-synaptic signaling by neuropeptide Any process that modulates the frequency, rate or extent of retrograde trans-synaptic signaling by neuropeptide. hp.json regulation of neuropeptide-mediated retrograde trans-synaptic signaling http://purl.obolibrary.org/obo/GO_1905432 UBERON:0008447 biolink:AnatomicalEntity intertarsal joint Intertarsal articulations are the joints of the tarsus. The specific intertarsal articulations are: Talocalcaneal articulation Talocalcaneonavicular articulation Calcaneocuboid articulation Cuneonavicular articulation Cuboideonavicular articulation Intercuneiform articulation Cuneocuboid articulation. UMLS:C1527245|FMA:44281|MA:0003112|MESH:D013640|EMAPA:37762|GAID:259|NCIT:C33735 hp.json tarsal joints|articulationes intertarsale|articulationes intertarseae|intertarsal joint|intertarsal articulation|articulationes intertarsales|intertarsal|intermetatarsal joint|tarsal joint http://purl.obolibrary.org/obo/UBERON_0008447 GO:1905427 biolink:BiologicalProcess intracellular signal transduction involved in positive regulation of cell growth Any intracellular signal transduction that is involved in positive regulation of cell growth. hp.json intracellular protein kinase cascade involved in up regulation of cell growth|intracellular signaling chain involved in upregulation of cell growth|intracellular signaling cascade involved in up-regulation of cell growth|intracellular signal transduction involved in activation of cell growth|intracellular signaling chain involved in stimulation of cell growth|signal transduction via intracellular signaling cascade involved in stimulation of cell growth|intracellular signaling cascade involved in upregulation of cell growth|intracellular protein kinase cascade involved in positive regulation of cell growth|protein kinase cascade involved in stimulation of cell growth|intracellular protein kinase cascade involved in upregulation of cell growth|intracellular signaling cascade involved in activation of cell growth|intracellular protein kinase cascade involved in activation of cell growth|intracellular signal transduction involved in up-regulation of cell growth|intracellular signaling pathway involved in stimulation of cell growth|signal transmission via intracellular cascade involved in stimulation of cell growth|intracellular signaling cascade involved in up regulation of cell growth|protein kinase cascade involved in up-regulation of cell growth|signal transduction via intracellular signaling cascade involved in up-regulation of cell growth|intracellular signal transduction involved in upregulation of cell growth|intracellular signal transduction pathway involved in stimulation of cell growth|intracellular signaling cascade involved in positive regulation of cell growth|intracellular signal transduction pathway involved in upregulation of cell growth|intracellular signal transduction involved in up regulation of cell growth|intracellular signaling pathway involved in up-regulation of cell growth|intracellular signal transduction pathway involved in activation of cell growth|signal transmission via intracellular cascade involved in up-regulation of cell growth|protein kinase cascade involved in up regulation of cell growth|signal transmission via intracellular cascade involved in upregulation of cell growth|signal transduction via intracellular signaling cascade involved in up regulation of cell growth|intracellular signaling chain involved in up-regulation of cell growth|signal transmission via intracellular cascade involved in activation of cell growth|intracellular signal transduction pathway involved in up-regulation of cell growth|intracellular signaling pathway involved in up regulation of cell growth|protein kinase cascade involved in upregulation of cell growth|protein kinase cascade involved in positive regulation of cell growth|signal transmission via intracellular cascade involved in up regulation of cell growth|intracellular protein kinase cascade involved in stimulation of cell growth|signal transduction via intracellular signaling cascade involved in positive regulation of cell growth|protein kinase cascade involved in activation of cell growth|signal transmission via intracellular cascade involved in positive regulation of cell growth|intracellular signaling pathway involved in upregulation of cell growth|intracellular signaling chain involved in activation of cell growth|intracellular signaling chain involved in up regulation of cell growth|intracellular signal transduction pathway involved in up regulation of cell growth|intracellular signaling pathway involved in positive regulation of cell growth|intracellular signal transduction involved in stimulation of cell growth|intracellular signaling pathway involved in activation of cell growth|intracellular protein kinase cascade involved in up-regulation of cell growth|intracellular signal transduction pathway involved in positive regulation of cell growth|signal transduction via intracellular signaling cascade involved in upregulation of cell growth|intracellular signaling cascade involved in stimulation of cell growth|intracellular signaling chain involved in positive regulation of cell growth|signal transduction via intracellular signaling cascade involved in activation of cell growth http://purl.obolibrary.org/obo/GO_1905427 GO:0051250 biolink:BiologicalProcess negative regulation of lymphocyte activation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation. hp.json down-regulation of lymphocyte activation|down regulation of lymphocyte activation|inhibition of lymphocyte activation|downregulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0051250 GO:0051251 biolink:BiologicalProcess positive regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. hp.json up regulation of lymphocyte activation|activation of lymphocyte activation|stimulation of lymphocyte activation|upregulation of lymphocyte activation|up-regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0051251 GO:0051254 biolink:BiologicalProcess positive regulation of RNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. hp.json up-regulation of RNA metabolic process|up regulation of RNA metabolic process|activation of RNA metabolic process|positive regulation of RNA metabolism|stimulation of RNA metabolic process|upregulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0051254 GO:0051252 biolink:BiologicalProcess regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. hp.json regulation of RNA metabolism http://purl.obolibrary.org/obo/GO_0051252 GO:0051253 biolink:BiologicalProcess negative regulation of RNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving RNA. hp.json inhibition of RNA metabolic process|downregulation of RNA metabolic process|negative regulation of RNA metabolism|down-regulation of RNA metabolic process|down regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0051253 GO:1905433 biolink:BiologicalProcess negative regulation of retrograde trans-synaptic signaling by neuropeptide Any process that stops, prevents or reduces the frequency, rate or extent of retrograde trans-synaptic signaling by neuropeptide. hp.json inhibition of neuropeptide-mediated retrograde trans-synaptic signaling|down-regulation of retrograde trans-synaptic signaling by neuropeptide|negative regulation of neuropeptide-mediated retrograde trans-synaptic signaling|down regulation of retrograde trans-synaptic signaling by neuropeptide|downregulation of retrograde trans-synaptic signaling by neuropeptide|inhibition of retrograde trans-synaptic signaling by neuropeptide http://purl.obolibrary.org/obo/GO_1905433 UBERON:0008435 biolink:AnatomicalEntity vertebral arch of sacral segment A neural arch that is part of a sacral vertebra. FMA:32401 hp.json http://purl.obolibrary.org/obo/UBERON_0008435 GO:1905434 biolink:BiologicalProcess positive regulation of retrograde trans-synaptic signaling by neuropeptide Any process that activates or increases the frequency, rate or extent of retrograde trans-synaptic signaling by neuropeptide. hp.json up regulation of retrograde trans-synaptic signaling by neuropeptide|activation of retrograde trans-synaptic signaling by neuropeptide|positive regulation of neuropeptide-mediated retrograde trans-synaptic signaling|upregulation of retrograde trans-synaptic signaling by neuropeptide|up-regulation of retrograde trans-synaptic signaling by neuropeptide http://purl.obolibrary.org/obo/GO_1905434 UBERON:0008436 biolink:AnatomicalEntity thoracic vertebral arch A neural arch that is part of a thoracic vertebra. FMA:9151 hp.json arch of thoracic vertebra http://purl.obolibrary.org/obo/UBERON_0008436 GO:0051261 biolink:BiologicalProcess protein depolymerization The process in which protein polymers, compounds composed of a large number of component monomers, are broken down. Depolymerization occurs by the successive removal of monomers from an existing poly- or oligomeric protein. hp.json protein polymer catabolism|protein polymer catabolic process|protein polymer degradation|protein polymer breakdown http://purl.obolibrary.org/obo/GO_0051261 goslim_pir UBERON:0008430 biolink:AnatomicalEntity lumbar vertebral foramen A vertebral foramen that is part of a lumbar vertebra. FMA:24826 hp.json http://purl.obolibrary.org/obo/UBERON_0008430 UBERON:0008431 biolink:AnatomicalEntity sacral foramen A vertebral foramen that is part of a sacral vertebra. FMA:31749 hp.json http://purl.obolibrary.org/obo/UBERON_0008431 UBERON:0008432 biolink:AnatomicalEntity thoracic vertebral foramen A vertebral foramen that is part of a thoracic vertebra. FMA:9143 hp.json http://purl.obolibrary.org/obo/UBERON_0008432 UBERON:0008433 biolink:AnatomicalEntity lumbar vertebral arch A neural arch that is part of a lumbar vertebra. FMA:16076 hp.json arch of lumbar vertebra http://purl.obolibrary.org/obo/UBERON_0008433 UBERON:0008434 biolink:AnatomicalEntity cervical vertebral arch A neural arch that is part of a cervical vertebra. FMA:23893 hp.json arch of cervical vertebra http://purl.obolibrary.org/obo/UBERON_0008434 GO:2000828 biolink:NamedThing regulation of parathyroid hormone secretion hp.json http://purl.obolibrary.org/obo/GO_2000828 GO:2000829 biolink:NamedThing negative regulation of parathyroid hormone secretion hp.json http://purl.obolibrary.org/obo/GO_2000829 GO:1905453 biolink:BiologicalProcess regulation of myeloid progenitor cell differentiation Any process that modulates the frequency, rate or extent of myeloid progenitor cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_1905453 GO:1905454 biolink:BiologicalProcess negative regulation of myeloid progenitor cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of myeloid progenitor cell differentiation. hp.json down-regulation of myeloid progenitor cell differentiation|down regulation of myeloid progenitor cell differentiation|downregulation of myeloid progenitor cell differentiation|inhibition of myeloid progenitor cell differentiation http://purl.obolibrary.org/obo/GO_1905454 GO:2000826 biolink:BiologicalProcess regulation of heart morphogenesis Any process that modulates the frequency, rate or extent of heart morphogenesis. hp.json regulation of cardiac morphogenesis http://purl.obolibrary.org/obo/GO_2000826 GO:0051272 biolink:BiologicalProcess positive regulation of cellular component movement Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. hp.json positive regulation of cellular component motion http://purl.obolibrary.org/obo/GO_0051272 GO:0051270 biolink:BiologicalProcess regulation of cellular component movement Any process that modulates the frequency, rate or extent of the movement of a cellular component. hp.json regulation of cellular component motion|regulation of cell movement http://purl.obolibrary.org/obo/GO_0051270 CHEBI:16651 biolink:ChemicalSubstance (S)-lactate An optically active form of lactate having (S)-configuration. Reaxys:4655977|Beilstein:4655977|KEGG:C00186|MetaCyc:L-LACTATE|Gmelin:324523|UM-BBD_compID:c0152 hp.json L(+)-lactate|(+)-lactate|L-(+)-lactate|L-lactate|(S)-lactate|(2S)-2-hydroxypropanoate http://purl.obolibrary.org/obo/CHEBI_16651 3_STAR GO:0051271 biolink:BiologicalProcess negative regulation of cellular component movement Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of a cellular component. hp.json negative regulation of cellular component motion http://purl.obolibrary.org/obo/GO_0051271 GO:0051276 biolink:BiologicalProcess chromosome organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. hp.json DNA packaging|nuclear genome maintenance|maintenance of genome integrity|chromosome organization and biogenesis|DNA condensation|chromosome organisation http://purl.obolibrary.org/obo/GO_0051276 goslim_pir|goslim_drosophila|goslim_chembl CHEBI:28659 biolink:ChemicalSubstance phosphorus atom WebElements:P|CAS:7723-14-0|CAS:7723-14-0|Gmelin:16235|KEGG:C06262 hp.json phosphore|15P|Phosphorus|P|Phosphor|phosphorus|phosphorus|P|fosforo http://purl.obolibrary.org/obo/CHEBI_28659 3_STAR GO:2000830 biolink:NamedThing positive regulation of parathyroid hormone secretion hp.json http://purl.obolibrary.org/obo/GO_2000830 GO:2000831 biolink:BiologicalProcess regulation of steroid hormone secretion Any process that modulates the frequency, rate or extent of steroid hormone secretion. hp.json http://purl.obolibrary.org/obo/GO_2000831 GO:1905460 biolink:BiologicalProcess negative regulation of vascular associated smooth muscle cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process. hp.json inhibition of vascular associated smooth muscle cell apoptosis|inhibition of vascular associated smooth muscle cell apoptotic process|down regulation of vascular smooth muscle cell apoptotic process|down-regulation of vascular associated smooth muscle cell apoptotic process|down regulation of VSMC apoptosis|downregulation of VSMC apoptotic process|inhibition of vascular smooth muscle cell apoptotic process|downregulation of vascular smooth muscle cell apoptotic process|inhibition of vascular smooth muscle cell apoptosis|down-regulation of VSMC apoptosis|downregulation of vascular associated smooth muscle cell apoptosis|negative regulation of VSMC apoptosis|down regulation of VSMC apoptotic process|negative regulation of vascular smooth muscle cell apoptosis|down-regulation of vascular smooth muscle cell apoptosis|inhibition of VSMC apoptotic process|inhibition of VSMC apoptosis|down regulation of vascular associated smooth muscle cell apoptosis|down-regulation of VSMC apoptotic process|downregulation of vascular associated smooth muscle cell apoptotic process|negative regulation of VSMC apoptotic process|down regulation of vascular smooth muscle cell apoptosis|down-regulation of vascular associated smooth muscle cell apoptosis|negative regulation of vascular associated smooth muscle cell apoptosis|negative regulation of vascular smooth muscle cell apoptotic process|down-regulation of vascular smooth muscle cell apoptotic process|downregulation of VSMC apoptosis|down regulation of vascular associated smooth muscle cell apoptotic process|downregulation of vascular smooth muscle cell apoptosis http://purl.obolibrary.org/obo/GO_1905460 GO:2000832 biolink:BiologicalProcess negative regulation of steroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of steroid hormone secretion. hp.json http://purl.obolibrary.org/obo/GO_2000832 GO:1905461 biolink:BiologicalProcess positive regulation of vascular associated smooth muscle cell apoptotic process Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process. hp.json positive regulation of vascular associated smooth muscle cell apoptosis|up regulation of VSMC apoptotic process|upregulation of vascular associated smooth muscle cell apoptotic process|up regulation of vascular smooth muscle cell apoptosis|up regulation of vascular associated smooth muscle cell apoptosis|activation of VSMC apoptotic process|up-regulation of VSMC apoptotic process|activation of VSMC apoptosis|positive regulation of vascular smooth muscle cell apoptosis|upregulation of VSMC apoptosis|up-regulation of vascular associated smooth muscle cell apoptosis|up-regulation of vascular smooth muscle cell apoptotic process|up regulation of vascular smooth muscle cell apoptotic process|up regulation of vascular associated smooth muscle cell apoptotic process|upregulation of vascular smooth muscle cell apoptosis|activation of vascular smooth muscle cell apoptotic process|activation of vascular smooth muscle cell apoptosis|positive regulation of VSMC apoptosis|positive regulation of vascular smooth muscle cell apoptotic process|up-regulation of vascular associated smooth muscle cell apoptotic process|upregulation of VSMC apoptotic process|up regulation of VSMC apoptosis|activation of vascular associated smooth muscle cell apoptosis|activation of vascular associated smooth muscle cell apoptotic process|upregulation of vascular associated smooth muscle cell apoptosis|upregulation of vascular smooth muscle cell apoptotic process|up-regulation of VSMC apoptosis|up-regulation of vascular smooth muscle cell apoptosis|positive regulation of VSMC apoptotic process http://purl.obolibrary.org/obo/GO_1905461 GO:2000833 biolink:BiologicalProcess positive regulation of steroid hormone secretion Any process that activates or increases the frequency, rate or extent of steroid hormone secretion. hp.json http://purl.obolibrary.org/obo/GO_2000833 GO:2000834 biolink:BiologicalProcess regulation of androgen secretion Any process that modulates the frequency, rate or extent of androgen secretion. hp.json http://purl.obolibrary.org/obo/GO_2000834 GO:2000835 biolink:BiologicalProcess negative regulation of androgen secretion Any process that stops, prevents or reduces the frequency, rate or extent of androgen secretion. hp.json http://purl.obolibrary.org/obo/GO_2000835 GO:2000836 biolink:BiologicalProcess positive regulation of androgen secretion Any process that activates or increases the frequency, rate or extent of androgen secretion. hp.json http://purl.obolibrary.org/obo/GO_2000836 GO:1905455 biolink:BiologicalProcess positive regulation of myeloid progenitor cell differentiation Any process that activates or increases the frequency, rate or extent of myeloid progenitor cell differentiation. hp.json upregulation of myeloid progenitor cell differentiation|up-regulation of myeloid progenitor cell differentiation|up regulation of myeloid progenitor cell differentiation|activation of myeloid progenitor cell differentiation http://purl.obolibrary.org/obo/GO_1905455 GO:1905456 biolink:BiologicalProcess regulation of lymphoid progenitor cell differentiation Any process that modulates the frequency, rate or extent of lymphoid progenitor cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_1905456 GO:1905457 biolink:BiologicalProcess negative regulation of lymphoid progenitor cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of lymphoid progenitor cell differentiation. hp.json downregulation of lymphoid progenitor cell differentiation|down regulation of lymphoid progenitor cell differentiation|inhibition of lymphoid progenitor cell differentiation|down-regulation of lymphoid progenitor cell differentiation http://purl.obolibrary.org/obo/GO_1905457 GO:1905458 biolink:BiologicalProcess positive regulation of lymphoid progenitor cell differentiation Any process that activates or increases the frequency, rate or extent of lymphoid progenitor cell differentiation. hp.json up regulation of lymphoid progenitor cell differentiation|up-regulation of lymphoid progenitor cell differentiation|activation of lymphoid progenitor cell differentiation|upregulation of lymphoid progenitor cell differentiation http://purl.obolibrary.org/obo/GO_1905458 GO:1905459 biolink:BiologicalProcess regulation of vascular associated smooth muscle cell apoptotic process Any process that modulates the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process. hp.json regulation of vascular smooth muscle cell apoptosis|regulation of VSMC apoptosis|regulation of vascular smooth muscle cell apoptotic process|regulation of VSMC apoptotic process|regulation of vascular associated smooth muscle cell apoptosis http://purl.obolibrary.org/obo/GO_1905459 CHEBI:16646 biolink:ChemicalSubstance carbohydrate Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. Wikipedia:Carbohydrate hp.json glucido|a carbohydrate|saccharide|saccharidum|carbohidrato|glucides|hydrates de carbone|carbohidratos|glucide|saccharides|carbohydrate|carbohydrates|Kohlenhydrat|glucidos|Kohlenhydrate http://purl.obolibrary.org/obo/CHEBI_16646 3_STAR GO:2000846 biolink:NamedThing regulation of corticosteroid hormone secretion hp.json http://purl.obolibrary.org/obo/GO_2000846 GO:1905475 biolink:BiologicalProcess regulation of protein localization to membrane Any process that modulates the frequency, rate or extent of protein localization to membrane. hp.json regulation of protein localisation in membrane|regulation of protein localization in membrane http://purl.obolibrary.org/obo/GO_1905475 GO:2000847 biolink:NamedThing negative regulation of corticosteroid hormone secretion hp.json http://purl.obolibrary.org/obo/GO_2000847 GO:1905476 biolink:BiologicalProcess negative regulation of protein localization to membrane Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to membrane. hp.json inhibition of protein localization to membrane|down-regulation of protein localization to membrane|down regulation of protein localisation in membrane|inhibition of protein localisation in membrane|negative regulation of protein localisation in membrane|down-regulation of protein localisation in membrane|downregulation of protein localization in membrane|down regulation of protein localization in membrane|inhibition of protein localization in membrane|downregulation of protein localization to membrane|down-regulation of protein localization in membrane|negative regulation of protein localization in membrane|downregulation of protein localisation in membrane|down regulation of protein localization to membrane http://purl.obolibrary.org/obo/GO_1905476 GO:2000848 biolink:NamedThing positive regulation of corticosteroid hormone secretion hp.json http://purl.obolibrary.org/obo/GO_2000848 CHEBI:16670 biolink:ChemicalSubstance peptide Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. KEGG:C00012 hp.json peptidos|peptides|Peptid|Peptide|peptido http://purl.obolibrary.org/obo/CHEBI_16670 3_STAR CHEBI:41609 biolink:ChemicalSubstance carbonate PDBeChem:CO3|Gmelin:1559|Beilstein:3600898|CAS:3812-32-6 hp.json CO3(2-)|trioxidocarbonate(2-)|carbonate|[CO3](2-)|Karbonat|CARBONATE ION http://purl.obolibrary.org/obo/CHEBI_41609 3_STAR GO:1905483 biolink:BiologicalProcess regulation of motor neuron migration Any process that modulates the frequency, rate or extent of motor neuron migration. hp.json http://purl.obolibrary.org/obo/GO_1905483 GO:2000855 biolink:NamedThing regulation of mineralocorticoid secretion hp.json http://purl.obolibrary.org/obo/GO_2000855 GO:1905484 biolink:BiologicalProcess negative regulation of motor neuron migration Any process that stops, prevents or reduces the frequency, rate or extent of motor neuron migration. hp.json inhibition of motor neuron migration|down-regulation of motor neuron migration|downregulation of motor neuron migration|down regulation of motor neuron migration http://purl.obolibrary.org/obo/GO_1905484 GO:2000856 biolink:NamedThing negative regulation of mineralocorticoid secretion hp.json http://purl.obolibrary.org/obo/GO_2000856 GO:2000857 biolink:NamedThing positive regulation of mineralocorticoid secretion hp.json http://purl.obolibrary.org/obo/GO_2000857 GO:1905485 biolink:BiologicalProcess positive regulation of motor neuron migration Any process that activates or increases the frequency, rate or extent of motor neuron migration. hp.json upregulation of motor neuron migration|up regulation of motor neuron migration|activation of motor neuron migration|up-regulation of motor neuron migration http://purl.obolibrary.org/obo/GO_1905485 GO:2000858 biolink:NamedThing regulation of aldosterone secretion hp.json http://purl.obolibrary.org/obo/GO_2000858 GO:2000859 biolink:NamedThing negative regulation of aldosterone secretion hp.json http://purl.obolibrary.org/obo/GO_2000859 GO:1905477 biolink:BiologicalProcess positive regulation of protein localization to membrane Any process that activates or increases the frequency, rate or extent of protein localization to membrane. hp.json positive regulation of protein localization in membrane|up regulation of protein localization in membrane|upregulation of protein localization to membrane|upregulation of protein localisation in membrane|up-regulation of protein localization in membrane|activation of protein localization in membrane|up regulation of protein localization to membrane|positive regulation of protein localisation in membrane|up-regulation of protein localization to membrane|up regulation of protein localisation in membrane|activation of protein localization to membrane|upregulation of protein localization in membrane|activation of protein localisation in membrane|up-regulation of protein localisation in membrane http://purl.obolibrary.org/obo/GO_1905477 NCBITaxon:2 biolink:OrganismalEntity Bacteria PMID:10425795|PMID:8123559|PMID:11411719|GC_ID:11|PMID:11540071|PMID:11321083|PMID:9336922|PMID:9103655|PMID:11760965|PMID:10939677|PMID:8186100|PMID:8590690|PMID:12054223|PMID:7520741|PMID:10843050|PMID:2112744|PMID:11542017|PMID:11211268|PMID:10939673|PMID:10939651|PMID:11321113|PMID:10490293|PMID:10425797|PMID:10425796|PMID:11542087|PMID:270744 hp.json Prokaryotae|Prokaryota|prokaryotes|bacteria|Procaryotae|eubacteria|Monera|prokaryote http://purl.obolibrary.org/obo/NCBITaxon_2 NCBITaxon:1 biolink:OrganismalEntity root GC_ID:1 hp.json all http://purl.obolibrary.org/obo/NCBITaxon_1 GO:0004888 biolink:MolecularActivity transmembrane signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. Reactome:R-HSA-193672 hp.json transmembrane receptor activity|transmembrane signalling receptor activity http://purl.obolibrary.org/obo/GO_0004888 GO:0002225 biolink:BiologicalProcess positive regulation of antimicrobial peptide production Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide production. hp.json up-regulation of antimicrobial peptide production|activation of antimicrobial peptide production|antimicrobial peptide induction|upregulation of antimicrobial peptide production|up regulation of antimicrobial peptide production|stimulation of antimicrobial peptide production http://purl.obolibrary.org/obo/GO_0002225 GO:0016866 biolink:MolecularActivity intramolecular transferase activity Catalysis of the transfer of a functional group from one position to another within a single molecule. EC:5.4.-.- hp.json mutase activity|intramolecular transferase activity, transferring other groups http://purl.obolibrary.org/obo/GO_0016866 GO:0016868 biolink:MolecularActivity intramolecular transferase activity, phosphotransferases Catalysis of the transfer of a phosphate group from one position to another within a single molecule. EC:5.4.2.- hp.json phosphotransferase activity, with regeneration of donors, apparently catalyzing intramolecular transfers|phosphomutase activity http://purl.obolibrary.org/obo/GO_0016868 GO:0002232 biolink:BiologicalProcess leukocyte chemotaxis involved in inflammatory response The movement of an immune cell in response to an external stimulus contributing to an inflammatory response. hp.json immune cell chemotaxis during inflammatory response|leucocyte chemotaxis during inflammatory response|leukocyte chemotaxis during inflammatory response http://purl.obolibrary.org/obo/GO_0002232 GO:0002233 biolink:BiologicalProcess leukocyte chemotaxis involved in immune response The movement of an immune cell in response to an external stimulus a part of an immune response. hp.json immune cell chemotaxis during immune response|leucocyte chemotaxis during immune response http://purl.obolibrary.org/obo/GO_0002233 GO:0016874 biolink:MolecularActivity ligase activity Catalysis of the joining of two molecules, or two groups within a single molecule, using the energy from the hydrolysis of ATP, a similar triphosphate, or a pH gradient. EC:6.-.-.- hp.json synthetase activity http://purl.obolibrary.org/obo/GO_0016874 goslim_pir|goslim_drosophila|goslim_chembl|goslim_metagenomics|goslim_mouse|goslim_yeast|goslim_generic|goslim_candida|prokaryote_subset GO:0002215 biolink:BiologicalProcess defense response to nematode A response to protect an organism from a directly detected or perceived external threat from a nematode or nematodes, which results in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. hp.json physiological defense response to nematode http://purl.obolibrary.org/obo/GO_0002215 GO:0002213 biolink:BiologicalProcess defense response to insect A response to protect an organism from a directly detected or perceived external threat from an insect or insects to that organism. hp.json physiological defense response to insect http://purl.obolibrary.org/obo/GO_0002213 CL:0011115 biolink:Cell precursor cell A cell that, by division or terminal differentiation, can give rise to other cell types. hp.json http://purl.obolibrary.org/obo/CL_0011115 GO:0016853 biolink:MolecularActivity isomerase activity Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. EC:5.-.-.-|Reactome:R-HSA-6787623 hp.json other isomerase activity http://purl.obolibrary.org/obo/GO_0016853 prokaryote_subset|goslim_pir|goslim_drosophila|goslim_chembl|goslim_metagenomics|goslim_yeast|goslim_candida|goslim_generic CL:0011101 biolink:Cell chorionic trophoblast cell Cells of the uterine chorion that acquire specialized structural and/or functional features that characterize chorionic trophoblasts. These cells will migrate towards the spongiotrophoblast layer and give rise to syncytiotrophoblasts of the labyrinthine layer. hp.json http://purl.obolibrary.org/obo/CL_0011101 GO:0016829 biolink:MolecularActivity lyase activity Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. Reactome:R-HSA-6782895|Reactome:R-HSA-5696408|EC:4.-.-.- hp.json other lyase activity http://purl.obolibrary.org/obo/GO_0016829 goslim_chembl|goslim_metagenomics|goslim_yeast|goslim_generic|goslim_candida|prokaryote_subset|goslim_pir|goslim_drosophila CL:0011108 biolink:Cell colon epithelial cell Epithelial cell that is part of the colon epithelium. hp.json colonic epithelial cell http://purl.obolibrary.org/obo/CL_0011108 GO:0016835 biolink:MolecularActivity carbon-oxygen lyase activity Catalysis of the breakage of a carbon-oxygen bond. EC:4.2.-.- hp.json other carbon-oxygen lyase activity http://purl.obolibrary.org/obo/GO_0016835 GO:0016836 biolink:MolecularActivity hydro-lyase activity Catalysis of the cleavage of a carbon-oxygen bond by elimination of water. EC:4.2.1.-|Reactome:R-HSA-9014627 hp.json http://purl.obolibrary.org/obo/GO_0016836 GO:0051216 biolink:BiologicalProcess cartilage development The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. Wikipedia:Chondrogenesis hp.json chondrogenesis|cartilage organ development|cartilage biogenesis|cartilage element development|cartilage biosynthesis|cartilage formation http://purl.obolibrary.org/obo/GO_0051216 UBERON:0008523 biolink:AnatomicalEntity infrahyoid muscle The infrahyoid muscles are a group of four pairs of muscles in the anterior part of the neck. (The term infrahyoid refers to the region below to the hyoid bone in the neck. ) Collectively, they are referred to as the strap muscles, because the muscles are long and flat much like a strap. FMA:13338 hp.json infrahyoidala|infrahyoid|infrahyoid muscle|musculi infrahyoidei|strap muscles|musculus infrahyoideus|strap muscle http://purl.obolibrary.org/obo/UBERON_0008523 UBERON:0008529 biolink:AnatomicalEntity piriformis muscle The piriformis is a muscle in the gluteal region that originates from the anterior (front) part of the sacrum, the part of the spine in the gluteal region, and from the superior margin of the greater sciatic notch (as well as the sacroiliac joint capsule and the sacrotuberous ligament). It exits the pelvis through the greater sciatic foramen to insert on the greater trochanter of the femur. Its tendon often joins with the tendons of the superior gemellus, inferior gemellus, and obturator internus muscles prior to insertion[WP,modified]. EMAPA:36239|FMA:19082 hp.json piriformis muscle|musculus piriformis|musculus piriformis|piriform muscle|m.piriformis|piriformis http://purl.obolibrary.org/obo/UBERON_0008529 UBERON:0008522 biolink:AnatomicalEntity nasal muscle Any muscle organ that is part of an nose. FMA:73758|NCIT:C33158|UMLS:C0224219 hp.json muscle of nose http://purl.obolibrary.org/obo/UBERON_0008522 GO:0051223 biolink:BiologicalProcess regulation of protein transport Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0051223 GO:0051224 biolink:BiologicalProcess negative regulation of protein transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json inhibition of protein transport|downregulation of protein transport|down-regulation of protein transport|down regulation of protein transport http://purl.obolibrary.org/obo/GO_0051224 GO:0051222 biolink:BiologicalProcess positive regulation of protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json up-regulation of protein transport|up regulation of protein transport|activation of protein transport|stimulation of protein transport|upregulation of protein transport http://purl.obolibrary.org/obo/GO_0051222 HP:0011373 biolink:PhenotypicFeature Incomplete partition of the cochlea Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. UMLS:C4023392 hp.json http://purl.obolibrary.org/obo/HP_0011373 HP:0011374 biolink:PhenotypicFeature Incomplete partition of the cochlea type I Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation. UMLS:C4023391 hp.json http://purl.obolibrary.org/obo/HP_0011374 HP:0011375 biolink:PhenotypicFeature Cochlear aplasia Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. UMLS:C4023390 hp.json Absent cochlea http://purl.obolibrary.org/obo/HP_0011375 HP:0011376 biolink:PhenotypicFeature Morphological abnormality of the vestibule of the inner ear A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. UMLS:C0542259 hp.json Vestibular abnormality http://purl.obolibrary.org/obo/HP_0011376 HP:0011377 biolink:PhenotypicFeature Aplasia of the vestibule Complete absence of the vestibule of the inner ear. UMLS:C4023389 hp.json Absent vestibule http://purl.obolibrary.org/obo/HP_0011377 HP:0011378 biolink:PhenotypicFeature Hypoplasia of the vestibule of the inner ear Underdevelopment of the vestibule of the inner ear. UMLS:C4023388 hp.json http://purl.obolibrary.org/obo/HP_0011378 HP:0011379 biolink:PhenotypicFeature Dilated vestibule of the inner ear Dilatation of the vestibule of the inner ear. UMLS:C4023387 hp.json http://purl.obolibrary.org/obo/HP_0011379 HP:0011370 biolink:PhenotypicFeature Recurrent cutaneous fungal infections Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections. UMLS:C4023394 hp.json http://purl.obolibrary.org/obo/HP_0011370 HP:0011371 biolink:PhenotypicFeature Recurrent viral skin infections Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections. UMLS:C4023393 hp.json Recurrent viral skin infections http://purl.obolibrary.org/obo/HP_0011371 HP:0011372 biolink:PhenotypicFeature Aplasia of the inner ear Absence of the inner ear due to a developmental defect. UMLS:C0266604|SNOMEDCT_US:71973003 hp.json Michel deformity|Aplasia of the labyrinth|Absent inner ear|Labyrinthine aplasia http://purl.obolibrary.org/obo/HP_0011372 HP:0011362 biolink:PhenotypicFeature Abnormal hair quantity An abnormal amount of hair. UMLS:C4023401|UMLS:C4023397 hp.json Abnormality of hair density|Abnormal hair quantity http://purl.obolibrary.org/obo/HP_0011362 HP:0011363 biolink:PhenotypicFeature Abnormality of hair growth rate Hair whose growth rate deviates from the norm. UMLS:C4023396 hp.json Abnormality of pace of hair growth|Abnormality of hair growth rate|Abnormality of speed of hair growth http://purl.obolibrary.org/obo/HP_0011363 HP:0011364 biolink:PhenotypicFeature White hair Hypopigmented hair that appears white. SNOMEDCT_US:297993006|UMLS:C0239804 hp.json White hair http://purl.obolibrary.org/obo/HP_0011364 HP:0011365 biolink:PhenotypicFeature Patchy hypopigmentation of hair Reduced pigmentation of hair in patches. UMLS:C4023395 hp.json http://purl.obolibrary.org/obo/HP_0011365 HP:0011367 biolink:PhenotypicFeature Yellow nails Yellowish discoloration of the nails. SNOMEDCT_US:45342007|UMLS:C1768507 hp.json Yellow nails http://purl.obolibrary.org/obo/HP_0011367 HP:0011368 biolink:PhenotypicFeature Epidermal thickening Thickening of the epidermal layer of the skin. UMLS:C4020752|UMLS:C0494876 hp.json Abnormality of keratinization http://purl.obolibrary.org/obo/HP_0011368 HP:0011369 biolink:PhenotypicFeature Mongolian blue spot Congenital deep dermal melanosis in the sacral area. SNOMEDCT_US:40467008|MSH:D049328|UMLS:C0265985 hp.json http://purl.obolibrary.org/obo/HP_0011369 HP:0011360 biolink:PhenotypicFeature Acquired abnormal hair pattern An abnormality of the distribution of hair growth that is acquired during the course of life. UMLS:C4023399 hp.json Acquired abnormal hair pattern http://purl.obolibrary.org/obo/HP_0011360 HP:0011361 biolink:PhenotypicFeature Congenital abnormal hair pattern A congenital abnormality of the distribution of hair growth. UMLS:C4023398 hp.json Abnormal hair pattern since birth http://purl.obolibrary.org/obo/HP_0011361 HP:0011351 biolink:PhenotypicFeature Moderate receptive language delay A moderate delay in the acquisition of the ability to understand the speech of others. UMLS:C3532946|SNOMEDCT_US:89381000119107 hp.json http://purl.obolibrary.org/obo/HP_0011351 HP:0011352 biolink:PhenotypicFeature Severe receptive language delay A severe delay in the acquisition of the ability to understand the speech of others. UMLS:C3532947|SNOMEDCT_US:89391000119105 hp.json http://purl.obolibrary.org/obo/HP_0011352 HP:0011353 biolink:PhenotypicFeature Arterial intimal fibrosis Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. UMLS:C4020753|UMLS:C4023403 hp.json Intimal fibrosis http://purl.obolibrary.org/obo/HP_0011353 HP:0011354 biolink:PhenotypicFeature Generalized abnormality of skin An abnormality of the skin that is not localized to any one particular region. UMLS:C4021157 hp.json Generalised abnormality of skin|Generalized abnormality of skin http://purl.obolibrary.org/obo/HP_0011354 HP:0011355 biolink:PhenotypicFeature Localized skin lesion A lesion of the skin that is located in a specific region rather than being generalized. UMLS:C0850826 hp.json Localised skin lesion|Localized skin lesion http://purl.obolibrary.org/obo/HP_0011355 HP:0011356 biolink:PhenotypicFeature Regional abnormality of skin An abnormality of the skin that is restricted to a particular body region. UMLS:C4023402 hp.json http://purl.obolibrary.org/obo/HP_0011356 HP:0011357 biolink:PhenotypicFeature obsolete Abnormality of hair density hp.json http://purl.obolibrary.org/obo/HP_0011357 HP:0011358 biolink:PhenotypicFeature Generalized hypopigmentation of hair Reduced pigmentation of hair diffusely. UMLS:C4023400 hp.json Generalised hypopigmentation of hair http://purl.obolibrary.org/obo/HP_0011358 GO:0002283 biolink:BiologicalProcess neutrophil activation involved in immune response The change in morphology and behavior of a neutrophil resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. hp.json neutrophil activation during immune response http://purl.obolibrary.org/obo/GO_0002283 GO:0002284 biolink:BiologicalProcess myeloid dendritic cell differentiation involved in immune response The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response. hp.json myeloid dendritic cell differentiation during immune response http://purl.obolibrary.org/obo/GO_0002284 GO:0002285 biolink:BiologicalProcess lymphocyte activation involved in immune response A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. hp.json lymphocyte activation during immune response http://purl.obolibrary.org/obo/GO_0002285 GO:0002286 biolink:BiologicalProcess T cell activation involved in immune response The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response. hp.json T-cell activation during immune response|T lymphocyte activation during immune response|T-lymphocyte activation during immune response|T cell activation during immune response http://purl.obolibrary.org/obo/GO_0002286 OBO:chebi#is_substituent_group_from biolink:NamedThing is substituent group from hp.json http://purl.obolibrary.org/obo/chebi#is_substituent_group_from GO:0002280 biolink:BiologicalProcess monocyte activation involved in immune response The change in morphology and behavior of a monocyte resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. hp.json monocyte activation during immune response http://purl.obolibrary.org/obo/GO_0002280 GO:0002281 biolink:BiologicalProcess macrophage activation involved in immune response A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. hp.json macrophage polarization involved in immune response|macrophage activation during immune response http://purl.obolibrary.org/obo/GO_0002281 HP:0011350 biolink:PhenotypicFeature Mild receptive language delay A mild delay in the acquisition of the ability to understand the speech of others. UMLS:C3532948|SNOMEDCT_US:89501000119108 hp.json http://purl.obolibrary.org/obo/HP_0011350 HP:0011359 biolink:PhenotypicFeature Dry hair Hair that lacks the lustre (shine or gleam) of normal hair. UMLS:C0277960|SNOMEDCT_US:79395009 hp.json Dry hair http://purl.obolibrary.org/obo/HP_0011359 HP:0011340 biolink:PhenotypicFeature Incomplete cleft of the upper lip A subtle unilateral cleft of the upper lip, which may appear as a small indentation. UMLS:C4021158 hp.json Incomplete cheiloschisis|Notched cleft of the upper lip|Incomplete cleft of the upper lip|Partial cleft of the upper lip|Forme fruste unilateral cleft lip http://purl.obolibrary.org/obo/HP_0011340 HP:0011341 biolink:PhenotypicFeature Long upper lip Increased width of the upper lip. UMLS:C3151495 hp.json Long upper lip|Increased vertical length of upper lip|Elongation of upper lip|Increased height of upper lip http://purl.obolibrary.org/obo/HP_0011341 HP:0011342 biolink:PhenotypicFeature Mild global developmental delay A mild delay in the achievement of motor or mental milestones in the domains of development of a child. UMLS:C4012968|UMLS:C2229182 hp.json Global developmental delay, mild|Psychomotor retardation, mild http://purl.obolibrary.org/obo/HP_0011342 HP:0011343 biolink:PhenotypicFeature Moderate global developmental delay A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. UMLS:C2237142 hp.json Psychomotor retardation, moderate|Global developmental delay, moderate http://purl.obolibrary.org/obo/HP_0011343 HP:0011344 biolink:PhenotypicFeature Severe global developmental delay A severe delay in the achievement of motor or mental milestones in the domains of development of a child. UMLS:C1854919|UMLS:C1837397 hp.json Global developmental delay, severe|Severe psychomotor retardation http://purl.obolibrary.org/obo/HP_0011344 HP:0011345 biolink:PhenotypicFeature Moderate expressive language delay A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. UMLS:C3532933|SNOMEDCT_US:62211000119103 hp.json http://purl.obolibrary.org/obo/HP_0011345 HP:0011346 biolink:PhenotypicFeature Mild expressive language delay A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. SNOMEDCT_US:62231000119108|UMLS:C3532934 hp.json http://purl.obolibrary.org/obo/HP_0011346 HP:0011347 biolink:PhenotypicFeature Abnormality of ocular abduction An abnormality involving the movement of the eye outwards. UMLS:C4023405 hp.json http://purl.obolibrary.org/obo/HP_0011347 GO:0002292 biolink:BiologicalProcess T cell differentiation involved in immune response The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells. hp.json T lymphocyte differentiation during immune response|T cell differentiation during immune response|T-cell differentiation during immune response|T cell development involved in immune response|T-lymphocyte differentiation during immune response http://purl.obolibrary.org/obo/GO_0002292 HP:0011348 biolink:PhenotypicFeature Abnormal sixth cranial nerve morphology Any structural abnormality of the abducens nerve. UMLS:C4023404 hp.json Abnormality of the sixth cranial nerve|Abnormal abducens nerve morphology http://purl.obolibrary.org/obo/HP_0011348 HP:0011349 biolink:PhenotypicFeature obsolete Abducens palsy hp.json http://purl.obolibrary.org/obo/HP_0011349 GO:0002269 biolink:BiologicalProcess leukocyte activation involved in inflammatory response A change in the morphology or behavior of a leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an inflammatory response. hp.json immune cell activation during inflammatory response|leukocyte activation during inflammatory response http://purl.obolibrary.org/obo/GO_0002269 GO:0002262 biolink:BiologicalProcess myeloid cell homeostasis The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. hp.json http://purl.obolibrary.org/obo/GO_0002262 GO:0002263 biolink:BiologicalProcess cell activation involved in immune response A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. hp.json cell activation during immune response http://purl.obolibrary.org/obo/GO_0002263 GO:0002264 biolink:BiologicalProcess endothelial cell activation involved in immune response A change in the morphology or behavior of an endothelial cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. hp.json endothelial cell activation during immune response http://purl.obolibrary.org/obo/GO_0002264 GO:0002260 biolink:BiologicalProcess lymphocyte homeostasis The process of regulating the proliferation and elimination of lymphocytes such that the total number of lymphocytes within a whole or part of an organism is stable over time in the absence of an outside stimulus. hp.json http://purl.obolibrary.org/obo/GO_0002260 GO:0002277 biolink:BiologicalProcess myeloid dendritic cell activation involved in immune response The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. hp.json myeloid dendritic cell activation during immune response http://purl.obolibrary.org/obo/GO_0002277 GO:0002274 biolink:BiologicalProcess myeloid leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. hp.json myeloid leucocyte activation http://purl.obolibrary.org/obo/GO_0002274 GO:0002275 biolink:BiologicalProcess myeloid cell activation involved in immune response A change in the morphology or behavior of a myeloid cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. hp.json myeloid cell activation during immune response http://purl.obolibrary.org/obo/GO_0002275 HP:0011395 biolink:PhenotypicFeature Aplasia/Hypoplasia of the cochlea Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. UMLS:C4023378 hp.json Absent/small cochlea|Absent/underdeveloped cochlea http://purl.obolibrary.org/obo/HP_0011395 HP:0011396 biolink:PhenotypicFeature Abnormality of the cochlear nerve UMLS:C4023377 hp.json http://purl.obolibrary.org/obo/HP_0011396 HP:0011397 biolink:PhenotypicFeature Abnormality of the dorsal column of the spinal cord An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. UMLS:C4023376 hp.json http://purl.obolibrary.org/obo/HP_0011397 HP:0011398 biolink:PhenotypicFeature obsolete Central hypotonia hp.json http://purl.obolibrary.org/obo/HP_0011398 HP:0011399 biolink:PhenotypicFeature Tibialis anterior muscle atrophy Wasting of the tibialis anterior muscle. UMLS:C4023375 hp.json Tibialis muscle degeneration|Sharp shin sign|Tibialis anterior amyotrophy http://purl.obolibrary.org/obo/HP_0011399 GO:0002244 biolink:BiologicalProcess hematopoietic progenitor cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. hp.json haematopoietic progenitor cell differentiation|haemopoietic progenitor cell differentiation|hemopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_0002244 GO:0002246 biolink:BiologicalProcess wound healing involved in inflammatory response The series of events that restore integrity to damaged tissue that contribute to an inflammatory response. hp.json inflammatory response wound healing|healing during inflammatory response http://purl.obolibrary.org/obo/GO_0002246 HP:0410209 biolink:PhenotypicFeature Folate deficiency in CSF A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid. hp.json Folate deficiency in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0410209 HP:0410208 biolink:PhenotypicFeature Positive plasma/serum cotinine test Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum. hp.json http://purl.obolibrary.org/obo/HP_0410208 HP:0011390 biolink:PhenotypicFeature Morphological abnormality of the inner ear A structural anomaly of the internal part of the ear. UMLS:C4023381 hp.json http://purl.obolibrary.org/obo/HP_0011390 HP:0011391 biolink:PhenotypicFeature Morphological abnormality of the nerves of the inner ear UMLS:C4023380 hp.json http://purl.obolibrary.org/obo/HP_0011391 HP:0011392 biolink:PhenotypicFeature Abnormality of the vestibular nerve UMLS:C4023379 hp.json http://purl.obolibrary.org/obo/HP_0011392 HP:0011393 biolink:PhenotypicFeature Aplasia of the vestibular nerve. Absence of the vestibular nerve UMLS:C4021153|UMLS:C4020751 hp.json Absent cranial nerve viii|Absent vestribular nerve|Aplasia of cranial nerve VIII|Aplasia of the eighth cranial nerve|Absent the eighth cranial nerve http://purl.obolibrary.org/obo/HP_0011393 HP:0011394 biolink:PhenotypicFeature Hypoplasia of the vestibular nerve Underdevelopment of the vestibular nerve. UMLS:C4020750 hp.json Hypoplasia of cranial nerve VIII|Hypoplasia of the eighth cranial nerve|Thin vestibular nerve http://purl.obolibrary.org/obo/HP_0011394 HP:0410203 biolink:PhenotypicFeature Positive gastric fluid barbiturate test Detection of barbiturate metabolites such as phenobarbital in the gastric fluid. hp.json http://purl.obolibrary.org/obo/HP_0410203 HP:0410202 biolink:PhenotypicFeature Positive stool barbiturate test Detection of barbiturate metabolites such as phenobarbital in the stool. hp.json http://purl.obolibrary.org/obo/HP_0410202 HP:0410201 biolink:PhenotypicFeature Positive hair barbiturate test Detection of barbiturate metabolites such as phenobarbital in the hair. hp.json http://purl.obolibrary.org/obo/HP_0410201 HP:0410200 biolink:PhenotypicFeature Positive meconium barbiturate test Detection of barbiturate metabolites such as phenobarbital in meconium. hp.json http://purl.obolibrary.org/obo/HP_0410200 HP:0410207 biolink:PhenotypicFeature Positive methadone plasma/serum test Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum. hp.json http://purl.obolibrary.org/obo/HP_0410207 GO:0016885 biolink:MolecularActivity ligase activity, forming carbon-carbon bonds Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. EC:6.4.-.- hp.json http://purl.obolibrary.org/obo/GO_0016885 HP:0410206 biolink:PhenotypicFeature Increased circulating nicotinurate level An increased amount of nicotinurate in the blood. hp.json Increased circulating N-nicotinoylglycine level http://purl.obolibrary.org/obo/HP_0410206 HP:0410205 biolink:PhenotypicFeature Abnormal circulating nicotinurate concentration Any deviation from the normal concentration of nicotinurate in the blood. hp.json Abnormal circulating N-nicotinoylglycine level|Abnormal circulating nicotinurate level http://purl.obolibrary.org/obo/HP_0410205 HP:0410204 biolink:PhenotypicFeature Increased intestinal transit time An increase in the length of time required for food to pass through the intestines. hp.json http://purl.obolibrary.org/obo/HP_0410204 HP:0011384 biolink:PhenotypicFeature Abnormality of the internal auditory canal An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. UMLS:C4021155 hp.json Abnormality of the internal acoustic meatus http://purl.obolibrary.org/obo/HP_0011384 UBERON:5003635 biolink:AnatomicalEntity pedal digit 5 plus metapodial segment A subdivision of the autopod consisting of pedal digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json pedal digit V plus metapodial segment|pedal digit 5 digitopodial subdivision|pedal digit 5|pedal digit 5 ( phalanges plus metapodial) plus soft tissue|pedal digit 5 ray http://purl.obolibrary.org/obo/UBERON_5003635 HP:0011385 biolink:PhenotypicFeature Absent internal auditory canal Aplasia of the internal auditory canal. UMLS:C4023384 hp.json http://purl.obolibrary.org/obo/HP_0011385 HP:0011386 biolink:PhenotypicFeature Narrow internal auditory canal Reduction in diameter of the internal auditory canal. UMLS:C4023383 hp.json http://purl.obolibrary.org/obo/HP_0011386 HP:0011387 biolink:PhenotypicFeature Enlarged vestibular aqueduct Increased size of the vestibular aqueduct. MSH:C566366|UMLS:C1863752 hp.json Widened vestibular aqueduct|Dilated vestibular aqueduct http://purl.obolibrary.org/obo/HP_0011387 UBERON:5003632 biolink:AnatomicalEntity pedal digit 2 plus metapodial segment A subdivision of the autopod consisting of pedal digit 2 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json pedal digit 2|pedal digit II plus metapodial segment|pedal digit 2 digitopodial subdivision|pedal digit 2 ( phalanges plus metapodial) plus soft tissue|pedal digit 2 ray http://purl.obolibrary.org/obo/UBERON_5003632 HP:0011388 biolink:PhenotypicFeature Enlarged cochlear aqueduct Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular. UMLS:C4021154 hp.json Dilated cochlear aqueduct http://purl.obolibrary.org/obo/HP_0011388 HP:0011389 biolink:PhenotypicFeature Functional abnormality of the inner ear An abnormality of the function of the inner ear. UMLS:C4023382 hp.json Functional abnormality of the inner ear http://purl.obolibrary.org/obo/HP_0011389 UBERON:5003631 biolink:AnatomicalEntity pedal digit 1 plus metapodial segment A subdivision of the autopod consisting of pedal digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json pedal digit 1|pedal digit 1 digitopodial subdivision|pedal digit I plus metapodial segment|pedal digit 1 ( phalanges plus metapodial) plus soft tissue|pedal digit 1 ray http://purl.obolibrary.org/obo/UBERON_5003631 UBERON:5003634 biolink:AnatomicalEntity pedal digit 4 plus metapodial segment A subdivision of the autopod consisting of pedal digit 4 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json pedal digit 4|pedal digit IV plus metapodial segment|pedal digit 4 ( phalanges plus metapodial) plus soft tissue|pedal digit 4 ray|pedal digit 4 digitopodial subdivision http://purl.obolibrary.org/obo/UBERON_5003634 UBERON:5003633 biolink:AnatomicalEntity pedal digit 3 plus metapodial segment A subdivision of the autopod consisting of pedal digit 3 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json pedal digit 3|pedal digit 3 ( phalanges plus metapodial) plus soft tissue|pedal digit III plus metapodial segment|pedal digit 3 digitopodial subdivision|pedal digit 3 ray http://purl.obolibrary.org/obo/UBERON_5003633 GO:0002250 biolink:BiologicalProcess adaptive immune response An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). Wikipedia:Adaptive_immune_system hp.json acquired immune response|immune memory response http://purl.obolibrary.org/obo/GO_0002250 GO:0002251 biolink:NamedThing organ or tissue specific immune response hp.json http://purl.obolibrary.org/obo/GO_0002251 GO:0002252 biolink:BiologicalProcess immune effector process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. hp.json http://purl.obolibrary.org/obo/GO_0002252 GO:0002253 biolink:BiologicalProcess activation of immune response Any process that initiates an immune response. hp.json http://purl.obolibrary.org/obo/GO_0002253 HP:0011380 biolink:PhenotypicFeature Morphological abnormality of the semicircular canal An abnormality of the morphology of the semicircular canal. UMLS:C4023386 hp.json http://purl.obolibrary.org/obo/HP_0011380 HP:0011381 biolink:PhenotypicFeature Aplasia of the semicircular canal Absence of the semicircular canal. UMLS:C4023385 hp.json Absent semicircular canal http://purl.obolibrary.org/obo/HP_0011381 HP:0011382 biolink:PhenotypicFeature Hypoplasia of the semicircular canal Underdevelopment of the semicircular canal. UMLS:C3552156 hp.json Small semicircular canal|Hypoplasia of the semicircular canals http://purl.obolibrary.org/obo/HP_0011382 HP:0011383 biolink:PhenotypicFeature Enlarged semicircular canal Increased size of the semicircular canal. UMLS:C4021156 hp.json Dilated semicircular canal http://purl.obolibrary.org/obo/HP_0011383 OIO:SubsetProperty biolink:NamedThing subset_property hp.json http://www.geneontology.org/formats/oboInOwl#SubsetProperty HP:0001726 biolink:PhenotypicFeature obsolete Increased prevalence of valvular disease hp.json http://purl.obolibrary.org/obo/HP_0001726 HP:0001723 biolink:PhenotypicFeature Restrictive cardiomyopathy Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. UMLS:C0007196|MSH:D002313|SNOMEDCT_US:90828009|SNOMEDCT_US:415295002 hp.json http://purl.obolibrary.org/obo/HP_0001723 HP:0001724 biolink:PhenotypicFeature obsolete Aortic dilatation hp.json http://purl.obolibrary.org/obo/HP_0001724 HP:0001727 biolink:PhenotypicFeature Thromboembolic stroke A cerebrovascular accident (stroke) that occurs because of thromboembolism. UMLS:C1112433 hp.json http://purl.obolibrary.org/obo/HP_0001727 HP:0410346 biolink:PhenotypicFeature Increased urinary galactosylated oligosaccharide An abnormal increase in the concentration of galactosylated oligosaccharides in urine. hp.json Increased concentration of galactosylated oligosaccharides in urine http://purl.obolibrary.org/obo/HP_0410346 HP:0410345 biolink:PhenotypicFeature Increased urinary polyhexose An abnormal increase in the concentration of polyhexose in the urine. hp.json Increased polyhexose concentration in urine http://purl.obolibrary.org/obo/HP_0410345 HP:0410344 biolink:PhenotypicFeature Shortened O-fucosylated glycan on properdin Decreased length of O-fucosylated glycans present on properdin. hp.json Presence of terminal O-fucose glycans on properdin http://purl.obolibrary.org/obo/HP_0410344 HP:0410343 biolink:PhenotypicFeature Decreased circulating heparan sulfate level An abnormal decrease in the concentration of heparan sulfate in the blood. hp.json Decreased blood heparan sulfate concentration|Decreased blood heparan sulphate concentration|Decreased circulating heparan sulphate level http://purl.obolibrary.org/obo/HP_0410343 HP:0410349 biolink:PhenotypicFeature Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level. hp.json http://purl.obolibrary.org/obo/HP_0410349 HP:0001722 biolink:PhenotypicFeature High-output congestive heart failure A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. UMLS:C0742747 hp.json http://purl.obolibrary.org/obo/HP_0001722 HP:0410348 biolink:PhenotypicFeature Increased urinary multiantennary sialylated oligosaccharide An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine. hp.json Increase concentration of multiantennary sialylated oligosaccharides in urine http://purl.obolibrary.org/obo/HP_0410348 HP:0410347 biolink:PhenotypicFeature Increased urinary high-mannose-type oligosaccharide An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine. hp.json Increased concentration of high-mannose-type oligosaccharides in urine http://purl.obolibrary.org/obo/HP_0410347 UBERON:0008188 biolink:AnatomicalEntity tendon of biceps brachii A tendon that attaches_to a biceps brachii. EMAPA:25053|FMA:38152 hp.json tendon of biceps brachii muscle|biceps brachii tendon http://purl.obolibrary.org/obo/UBERON_0008188 HP:0410342 biolink:PhenotypicFeature Increased circulating heparan sulfate level An abnormal increase in the concentration of heparan sulfate in the blood. hp.json Increased circulating heparan sulphate level|Increased blood heparan sulphate concentration|Increased blood heparan sulfate concentration http://purl.obolibrary.org/obo/HP_0410342 HP:0410341 biolink:PhenotypicFeature Abnormal circulating heparan sulfate level An abnormal level of heparan sulfate in the blood. hp.json Abnormality of the concentration of heparan sulfate in the blood|Abnormal circulating heparan sulphate level|Abnormality of the concentration of heparan sulphate in the blood http://purl.obolibrary.org/obo/HP_0410341 HP:0410340 biolink:PhenotypicFeature Focal epithelial hyperplasia of oral mucosa The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate. hp.json Focal epithelial hyperplasia of the lining of mouth|Oral mucosa epithelial hyperplasia http://purl.obolibrary.org/obo/HP_0410340 HP:0001737 biolink:PhenotypicFeature Pancreatic cysts A cyst of the pancreas that possess a lining of mucous epithelium. SNOMEDCT_US:31258000|UMLS:C0030283|MSH:D010181|UMLS:C1860394 hp.json Pancreatic cysts|Multiple pancreatic cysts|Pancreatic cyst http://purl.obolibrary.org/obo/HP_0001737 HP:0001734 biolink:PhenotypicFeature Annular pancreas A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. UMLS:C0149955|MSH:C536376|SNOMEDCT_US:40315008 hp.json http://purl.obolibrary.org/obo/HP_0001734 HP:0001735 biolink:PhenotypicFeature Acute pancreatitis A acute form of pancreatitis. SNOMEDCT_US:197456007|UMLS:C0001339 hp.json Pancreatitis, acute|Acute pancreatic inflammation http://purl.obolibrary.org/obo/HP_0001735 HP:0001738 biolink:PhenotypicFeature Exocrine pancreatic insufficiency Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. MSH:D010188|SNOMEDCT_US:47367009|UMLS:C0267963|SNOMEDCT_US:37992001|UMLS:C0030293 hp.json Pancreatic insufficiency|Inability to properly digest food due to lack of pancreatic digestive enzymes http://purl.obolibrary.org/obo/HP_0001738 HP:0001739 biolink:PhenotypicFeature Abnormal nasopharynx morphology A structural anomaly of the nasopharynx. UMLS:C4025750 hp.json Abnormality of the nasopharynx http://purl.obolibrary.org/obo/HP_0001739 HP:0410335 biolink:PhenotypicFeature Insect allergy Hypersensitivity in form of an adverse immune reaction against insects. hp.json Allergy to insects|IgE-mediated insect allergy|Immunoglobulin E-mediated insect allergy|Insect allergy http://purl.obolibrary.org/obo/HP_0410335 HP:0410334 biolink:PhenotypicFeature Fungi allergy Hypersensitivity in form of an adverse immune reaction against fungus. hp.json Immunoglobulin E-mediated fungi allergy|Fungi allergy|IgE-mediated fungi allergy|Fungus allergy|Allergy to fungi|Fungal allergy http://purl.obolibrary.org/obo/HP_0410334 HP:0410333 biolink:PhenotypicFeature Seafood allergy Hypersensitivity in form of an adverse immune reaction against seafood. hp.json Immunoglobulin E-mediated seafood allergy|Seafood allergy|IgE-mediated seafood allergy|Allergy to seafood http://purl.obolibrary.org/obo/HP_0410333 HP:0410332 biolink:PhenotypicFeature Plant based food allergy Hypersensitivity in form of an adverse immune reaction against plant based food allergens. hp.json IgE-mediated plant based food allergen allergy|Plant based food allergy|Allergy to plant based food allergens|Immunoglobulin E-mediated plant based food allergen allergy http://purl.obolibrary.org/obo/HP_0410332 HP:0001732 biolink:PhenotypicFeature Abnormality of the pancreas An abnormality of the pancreas. SNOMEDCT_US:3855007|UMLS:C4025751|UMLS:C0030286|MSH:D010182 hp.json Pancreatic disease|Abnormality of the pancreas http://purl.obolibrary.org/obo/HP_0001732 HP:0410339 biolink:PhenotypicFeature Insect bite allergy Hypersensitivity in form of an adverse immune reaction against insect bites. hp.json Allergy to insect bites|Immunoglobulin E-mediated insect bite allergy|Insect bite allergy|IgE-mediated insect bite allergy http://purl.obolibrary.org/obo/HP_0410339 HP:0001733 biolink:PhenotypicFeature Pancreatitis The presence of inflammation in the pancreas. MSH:D010195|SNOMEDCT_US:75694006|UMLS:C0030305 hp.json Pancreatic inflammation http://purl.obolibrary.org/obo/HP_0001733 HP:0410338 biolink:PhenotypicFeature Plant product allergy Hypersensitivity in form of an adverse immune reaction against plant products. hp.json Plant product allergy|Immunoglobulin E-mediated plant product allergy|IgE-mediated plant product allergy|Allergy to plant products http://purl.obolibrary.org/obo/HP_0410338 HP:0410337 biolink:PhenotypicFeature Parasite allergy Hypersensitivity in form of an adverse immune reaction against parasites. hp.json Allergy to parasites|IgE-mediated parasite allergy|Immunoglobulin E-mediated parasite allergy|Parasite allergy http://purl.obolibrary.org/obo/HP_0410337 HP:0001730 biolink:PhenotypicFeature Progressive hearing impairment A progressive form of hearing impairment. UMLS:C1842138 hp.json Progressive hearing loss http://purl.obolibrary.org/obo/HP_0001730 HP:0410336 biolink:PhenotypicFeature Venom allergy Hypersensitivity in form of an adverse immune reaction against insect venom. hp.json Allergy to venom|Venom allergy|Immunoglobulin E-mediated venom allergy|IgE-mediated venom allergy http://purl.obolibrary.org/obo/HP_0410336 HP:0410331 biolink:PhenotypicFeature Nut food product allergy Hypersensitivity in form of an adverse immune reaction against nut food products. hp.json Nut food product allergy|Nut allergy|Allergy to nut food products|IgE-mediated nut food product allergy|Immunoglobulin E-mediated nut food product allergy http://purl.obolibrary.org/obo/HP_0410331 HP:0410330 biolink:PhenotypicFeature Meat allergen allergy Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products. hp.json Allergy to meat allergens|Meat allergy|Immunoglobulin E-mediated meat allergen allergy|Meat allergen allergy|IgE-mediated meat allergen allergy http://purl.obolibrary.org/obo/HP_0410330 HP:0001709 biolink:PhenotypicFeature Third degree atrioventricular block Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. SNOMEDCT_US:27885002|UMLS:C0151517 hp.json Complete heart block|Third-degree heart block http://purl.obolibrary.org/obo/HP_0001709 HP:0001704 biolink:PhenotypicFeature Tricuspid valve prolapse One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. UMLS:C0040962|SNOMEDCT_US:253383003|Fyler:1733|MSH:D014263 hp.json http://purl.obolibrary.org/obo/HP_0001704 HP:0001701 biolink:PhenotypicFeature Pericarditis Inflammation of the sac-like covering around the heart (pericardium). UMLS:C0031046|MSH:D010493|SNOMEDCT_US:3238004 hp.json Swelling or irritation of membrane around heart http://purl.obolibrary.org/obo/HP_0001701 HP:0001702 biolink:PhenotypicFeature Abnormal tricuspid valve morphology Any structural anomaly of the tricuspid valve. UMLS:C4025753|EPCC:06.01.00 hp.json Abnormality of the tricuspid valve http://purl.obolibrary.org/obo/HP_0001702 HP:0001707 biolink:PhenotypicFeature Abnormal right ventricle morphology An abnormality of the right ventricle of the heart. SNOMEDCT_US:253516002|UMLS:C0344887|Fyler:1820 hp.json Right ventricular abnormality|Abnormality of the right ventricle http://purl.obolibrary.org/obo/HP_0001707 HP:0001708 biolink:PhenotypicFeature Right ventricular failure Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. UMLS:C2939447|SNOMEDCT_US:128404006|SNOMEDCT_US:367363000|UMLS:C0235527|MSH:D006333 hp.json Right ventricular impairment|Impaired right ventricular function|Right-sided heart failure http://purl.obolibrary.org/obo/HP_0001708 HP:0001705 biolink:PhenotypicFeature Right ventricular outlet tract obstruction An obstruction to the forward flow of blood in the outflow tract of the right ventricle. MSH:D014694|UMLS:C0035619 hp.json Right ventricular outlet obstruction http://purl.obolibrary.org/obo/HP_0001705 HP:0001706 biolink:PhenotypicFeature Endocardial fibroelastosis Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction SNOMEDCT_US:65457005|UMLS:C0014117|MSH:D004695 hp.json http://purl.obolibrary.org/obo/HP_0001706 HP:0410368 biolink:PhenotypicFeature Increased globoside Gb3 level An abnormal increase in the concentration of glycolipid globoside Gb3. hp.json Increased globoside Gb3 concentration http://purl.obolibrary.org/obo/HP_0410368 HP:0410367 biolink:PhenotypicFeature Increased hepatitis A virus antibody level An abnormally increased level of immunoglobulin against hepatitis A virus in the blood. hp.json http://purl.obolibrary.org/obo/HP_0410367 HP:0410366 biolink:PhenotypicFeature Increased globoside Gb4 level An abnormal increase in the concentration of globoside Gb4. hp.json Increased globoside Gb4 concentration http://purl.obolibrary.org/obo/HP_0410366 HP:0410365 biolink:PhenotypicFeature Increased disialylated core 1 O-glycan level An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins. hp.json Increased disialyl T-antigen concentration http://purl.obolibrary.org/obo/HP_0410365 HP:0001700 biolink:PhenotypicFeature Myocardial necrosis Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). SNOMEDCT_US:251061000|UMLS:C1442837 hp.json http://purl.obolibrary.org/obo/HP_0001700 HP:0410369 biolink:PhenotypicFeature Increased hepatitis B virus antibody level An abnormally increased level of immunoglobulin against hepatitis B virus in the blood. hp.json http://purl.obolibrary.org/obo/HP_0410369 HP:0410360 biolink:PhenotypicFeature Increased core 1 O-glycan level An abnormal increase in the concentration of core 1 O-glycans on glycoproteins. hp.json Increased T-antigen concentration http://purl.obolibrary.org/obo/HP_0410360 HP:0410364 biolink:PhenotypicFeature Decreased monosialylated core 1 O-glycan level An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins. hp.json Decreased sialyl T-antigen concentration http://purl.obolibrary.org/obo/HP_0410364 HP:0410363 biolink:PhenotypicFeature Increased monosialylated core 1 O-glycan level An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins. hp.json Increased sialyl T-antigen concentration http://purl.obolibrary.org/obo/HP_0410363 HP:0410362 biolink:PhenotypicFeature Decreased O-mannosyl glycans on alpha-dystroglycan Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix. hp.json Reduced O-mannosyl glycans on alpha-dystroglycan http://purl.obolibrary.org/obo/HP_0410362 HP:0410361 biolink:PhenotypicFeature Decreased core 1 O-glycan level An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins. hp.json Decreased T-antigen concentration http://purl.obolibrary.org/obo/HP_0410361 HP:0001714 biolink:PhenotypicFeature Ventricular hypertrophy Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. UMLS:C0340279|SNOMEDCT_US:266249003 hp.json http://purl.obolibrary.org/obo/HP_0001714 HP:0001712 biolink:PhenotypicFeature Left ventricular hypertrophy Enlargement or increased size of the heart left ventricle. Fyler:3608|SNOMEDCT_US:55827005|MSH:D017379|UMLS:C0149721 hp.json Left ventricular wall hypertrophy|Heart left ventricle hypertrophy http://purl.obolibrary.org/obo/HP_0001712 HP:0001713 biolink:PhenotypicFeature Abnormal cardiac ventricle morphology An abnormality of a cardiac ventricle. UMLS:C4025752 hp.json Abnormality of cardiac ventricle http://purl.obolibrary.org/obo/HP_0001713 HP:0001718 biolink:PhenotypicFeature Mitral stenosis An abnormal narrowing of the orifice of the mitral valve. SNOMEDCT_US:79619009|MSH:D008946|ICD-10:Q23.2|EPCC:06.02.92|UMLS:C0026269|Fyler:1511 hp.json Mitral valve stenosis http://purl.obolibrary.org/obo/HP_0001718 HP:0001719 biolink:PhenotypicFeature Double outlet right ventricle Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. Fyler:600|MSH:D004310|UMLS:C0013069|Fyler:606|SNOMEDCT_US:7484005 hp.json Double-outlet right ventricle|DORV http://purl.obolibrary.org/obo/HP_0001719 HP:0001716 biolink:PhenotypicFeature Wolff-Parkinson-White syndrome A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. UMLS:C0043202|SNOMEDCT_US:74390002|MSH:D014927 hp.json http://purl.obolibrary.org/obo/HP_0001716 HP:0001717 biolink:PhenotypicFeature Coronary artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. SNOMEDCT_US:445512009|UMLS:C1611184 hp.json http://purl.obolibrary.org/obo/HP_0001717 HP:0410357 biolink:PhenotypicFeature Increased high-mannose N-glycan level An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins. hp.json Increased high-mannose N-glycans on glycoprotein concentration http://purl.obolibrary.org/obo/HP_0410357 HP:0410356 biolink:PhenotypicFeature Abnormal high-mannose N-glycan level An abnormal concentration of high-mannose N-glycans on glycoproteins. hp.json Abnormal high-mannose N-glycans on glycoprotein concentration http://purl.obolibrary.org/obo/HP_0410356 HP:0410355 biolink:PhenotypicFeature Decreased sialylated N-glycan level An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins. hp.json Decreased concentration of sialylated N-glycans on glycoproteins http://purl.obolibrary.org/obo/HP_0410355 HP:0410354 biolink:PhenotypicFeature Increased sialylated N-glycan level An abnormal increase in the concentration of sialylated N-glycans on glycoproteins. hp.json Increased concentration of sialylated N-glycans on glycoproteins http://purl.obolibrary.org/obo/HP_0410354 HP:0001710 biolink:PhenotypicFeature Conotruncal defect A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. UMLS:C1853238 hp.json Conotruncal heart defects http://purl.obolibrary.org/obo/HP_0001710 HP:0001711 biolink:PhenotypicFeature Abnormal left ventricle morphology Any structural abnormality of the left ventricle of the heart. Fyler:1810|SNOMEDCT_US:253535002|UMLS:C0344905 hp.json Left ventricular abnormality|Abnormal heart left ventricle morphology|Abnormality of the left ventricle http://purl.obolibrary.org/obo/HP_0001711 HP:0410359 biolink:PhenotypicFeature Abnormal core 1 O-glycan level An abnormal in the concentration of core 1 O-glycans on glycoproteins. hp.json Abnormal concentration of T-antigen http://purl.obolibrary.org/obo/HP_0410359 HP:0410358 biolink:PhenotypicFeature Decreased high-mannose N-glycan level An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins. hp.json Decreased high-mannose N-glycans on glycoprotein concentration http://purl.obolibrary.org/obo/HP_0410358 HP:0410353 biolink:PhenotypicFeature Decreased complex N-glycan level An abnormal decrease in the concentration of complex N-glycans on glycoproteins. hp.json Increased truncated complex N-glycans on glycoproteins http://purl.obolibrary.org/obo/HP_0410353 HP:0410352 biolink:PhenotypicFeature Increased complex N-glycan level An abnormal increase in the concentration of complex N-glycans on glycoproteins. hp.json Increased concentration of complex N-glycans on glycoproteins http://purl.obolibrary.org/obo/HP_0410352 HP:0410351 biolink:PhenotypicFeature Abnormal complex N-glycan level An abnormal concentration of complex N-glycans on glycoproteins. hp.json Abnormal concentration of complex N-glycans on glycoproteins http://purl.obolibrary.org/obo/HP_0410351 HP:0410350 biolink:PhenotypicFeature Increased urinary fucosylated oligosaccharide An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine. hp.json Increased concentration of fucosylated oligosaccharides in urine http://purl.obolibrary.org/obo/HP_0410350 HP:0001769 biolink:PhenotypicFeature Broad foot A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. UMLS:C1866241 hp.json Wide foot|Broad foot|Broad feet http://purl.obolibrary.org/obo/HP_0001769 hposlim_core UBERON:0035764 biolink:AnatomicalEntity pulmonary lymph node FMA:5968 hp.json intrapulmonary lymph node|pulmonary node http://purl.obolibrary.org/obo/UBERON_0035764 UBERON:0035763 biolink:AnatomicalEntity cavity of cardiac chamber EHDAA2:0004181|FMA:9464 hp.json cardiac chamber cavity|heart cavity|heart lumen http://purl.obolibrary.org/obo/UBERON_0035763 HP:0001761 biolink:PhenotypicFeature Pes cavus The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight. SNOMEDCT_US:205091006|MEDDRA:10034743|UMLS:C0728829 hp.json High-arched foot http://purl.obolibrary.org/obo/HP_0001761 hposlim_core HP:0001762 biolink:PhenotypicFeature Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. MEDDRA:10043106|SNOMEDCT_US:397932003|SNOMEDCT_US:249808002|MSH:D003025|Fyler:4171|UMLS:C0009081 hp.json Foot, talipes equinovarus|Equinovarus|Pes equinovarus|Talipes varus|Club foot|Club feet|Clubbing of feet|Clubfoot|Clubfeet|Pes equinus http://purl.obolibrary.org/obo/HP_0001762 hposlim_core HP:0410389 biolink:PhenotypicFeature Decreased proportion of central memory CD8-positive, alpha-beta T cells A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json http://purl.obolibrary.org/obo/HP_0410389 HP:0410388 biolink:PhenotypicFeature Decreased proportion of central memory CD4-positive, alpha-beta T cells A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json Reduced proportion of CD4+ central memory cells|Decreased proportion of CD4-positive central memory cells|Decreased proportion of central memory CD4+, alpha-beta T cell|Decreased proportion of CD4+ central memory cells http://purl.obolibrary.org/obo/HP_0410388 HP:0025730 biolink:PhenotypicFeature Foramen ovale aneurysm Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow. hp.json Redundant septum primum flap|Fetal atrial septal dilatation http://purl.obolibrary.org/obo/HP_0025730 HP:0410387 biolink:PhenotypicFeature obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells hp.json http://purl.obolibrary.org/obo/HP_0410387 HP:0001760 biolink:PhenotypicFeature Abnormal foot morphology An abnormality of the skeleton of foot. SNOMEDCT_US:229844004|UMLS:C0016506|MSH:D005530 hp.json Abnormality of the feet|Abnormality of the foot|Abnormal feet structure|Foot deformity|Foot deformities http://purl.obolibrary.org/obo/HP_0001760 HP:0001765 biolink:PhenotypicFeature Hammertoe Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. UMLS:C1136179|SNOMEDCT_US:122481008|MSH:D037801 hp.json Hammer toe|Hammertoes|Hammertoe http://purl.obolibrary.org/obo/HP_0001765 hposlim_core HP:0001763 biolink:PhenotypicFeature Pes planus A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. UMLS:C0016202|SNOMEDCT_US:53226007|SNOMEDCT_US:203534009|MSH:D005413|UMLS:C0264133 hp.json Dropped arches|Fallen arches|Flat feet|Flat foot http://purl.obolibrary.org/obo/HP_0001763 hposlim_core HP:0410382 biolink:PhenotypicFeature obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells hp.json http://purl.obolibrary.org/obo/HP_0410382 HP:0410381 biolink:PhenotypicFeature Abnormal proportion of central memory CD4-positive, alpha-beta T cells An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json http://purl.obolibrary.org/obo/HP_0410381 HP:0410380 biolink:PhenotypicFeature Abnormal proportion of CD8-positive, alpha-beta memory T cells An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp.json http://purl.obolibrary.org/obo/HP_0410380 HP:0410386 biolink:PhenotypicFeature Decreased proportion of CD4-positive, alpha-beta memory T cells Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp.json http://purl.obolibrary.org/obo/HP_0410386 HP:0410385 biolink:PhenotypicFeature Decreased proportion of CD8-positive, alpha-beta memory T cells Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp.json http://purl.obolibrary.org/obo/HP_0410385 HP:0410384 biolink:PhenotypicFeature Abnormal proportion of central memory CD8-positive, alpha-beta T cells An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json http://purl.obolibrary.org/obo/HP_0410384 HP:0410383 biolink:PhenotypicFeature Abnormal proportion of effector memory CD8-positive, alpha-beta T cells An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json http://purl.obolibrary.org/obo/HP_0410383 HP:0025725 biolink:PhenotypicFeature Type 1 congenital pulmonary airway malformation A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst. hp.json http://purl.obolibrary.org/obo/HP_0025725 HP:0025726 biolink:PhenotypicFeature Type 2 congenital pulmonary airway malformation A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance). hp.json http://purl.obolibrary.org/obo/HP_0025726 HP:0025727 biolink:PhenotypicFeature Type 3 congenital pulmonary airway malformation A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance. hp.json http://purl.obolibrary.org/obo/HP_0025727 HP:0025728 biolink:PhenotypicFeature Periventricular pseudocyst Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns. hp.json http://purl.obolibrary.org/obo/HP_0025728 UBERON:0035775 biolink:AnatomicalEntity submandibular region The region between the mandible and the hyoid bone that contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. FMA:57779 hp.json submaxillary triangle|digastric triangle|submaxillary triangle|submandibular triangle|digastric triangle|trigonum submandibulare http://purl.obolibrary.org/obo/UBERON_0035775 HP:0025729 biolink:PhenotypicFeature Fetal vascular malperfusion The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.). hp.json http://purl.obolibrary.org/obo/HP_0025729 UBERON:0035776 biolink:AnatomicalEntity accessory ciliary ganglion A parasympathetic ganglion located on the short ciliary nerve differentiated from the main ciliary ganglion by virtue of the fact that it had no root derived directly from the inferior trunk of the oculomotor nerve and it never attaches to this nerve. hp.json http://purl.obolibrary.org/obo/UBERON_0035776 HP:0410379 biolink:PhenotypicFeature Abnormal proportion of CD4-positive, alpha-beta memory T cells An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp.json http://purl.obolibrary.org/obo/HP_0410379 HP:0001772 biolink:PhenotypicFeature Talipes equinovalgus A deformity of foot and ankle in which the foot is bent down and outwards. SNOMEDCT_US:68284008|MSH:D004863|UMLS:C0265642|UMLS:C4020866 hp.json Equinovalgus deformity http://purl.obolibrary.org/obo/HP_0001772 UBERON:0035767 biolink:AnatomicalEntity intrapulmonary bronchus FMA:223208|NCIT:C12930 hp.json http://purl.obolibrary.org/obo/UBERON_0035767 HP:0001773 biolink:PhenotypicFeature Short foot A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). UMLS:C1848673 hp.json Hypoplastic feet|Small feet|Short feet|Short foot http://purl.obolibrary.org/obo/HP_0001773 HP:0410378 biolink:PhenotypicFeature Decreased proportion of naive CD4 T cells An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells. hp.json Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells|Reduced proportion of naive CD4 T cells|Decreased proportion of CD4+CD45RA+ cells http://purl.obolibrary.org/obo/HP_0410378 HP:0410377 biolink:PhenotypicFeature Decreased proportion of naive CD8 T cells An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells. hp.json Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells|Reduced proportion of naive CD8 T cells http://purl.obolibrary.org/obo/HP_0410377 HP:0001770 biolink:PhenotypicFeature Toe syndactyly Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". SNOMEDCT_US:32113001|UMLS:C0265660 hp.json Webbed toes|Syndactyly of toes|Fused toes|Foot syndactyly|Syndactyly of feet http://purl.obolibrary.org/obo/HP_0001770 HP:0001771 biolink:PhenotypicFeature Achilles tendon contracture A contracture of the Achilles tendon. SNOMEDCT_US:203076007|UMLS:C0410264 hp.json Contractures of the Achilles tendon|Tight achilles tendon|Achilles tendon contractures|Shortening of the achilles tendon http://purl.obolibrary.org/obo/HP_0001771 HP:0410376 biolink:PhenotypicFeature Increased proportion of naive CD8 T cells An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells. hp.json Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells|Elevated proportion of naive CD8 T cells http://purl.obolibrary.org/obo/HP_0410376 HP:0025720 biolink:PhenotypicFeature Limited horizontal extraocular movement Limited mobility of the eye to move from side to side (horizontally) within its socket. hp.json http://purl.obolibrary.org/obo/HP_0025720 HP:0025721 biolink:PhenotypicFeature Limited vertical extraocular movement Limited mobility of the eye to move up and down (vertically) within its socket. hp.json http://purl.obolibrary.org/obo/HP_0025721 HP:0001776 biolink:PhenotypicFeature Bilateral talipes equinovarus Bilateral clubfoot deformity (see HP:0001762). UMLS:C1837835 hp.json Bilateral clubfeet|Bilateral clubfoot|Club foot on both sides http://purl.obolibrary.org/obo/HP_0001776 HP:0025722 biolink:PhenotypicFeature Cerebral infarct A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors. hp.json http://purl.obolibrary.org/obo/HP_0025722 HP:0025723 biolink:PhenotypicFeature Abnormal fetal skin morphology Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. hp.json http://purl.obolibrary.org/obo/HP_0025723 HP:0001775 biolink:PhenotypicFeature Tarsal osteovalgus UMLS:C4025748 hp.json http://purl.obolibrary.org/obo/HP_0001775 HP:0025724 biolink:PhenotypicFeature Caseous vernix-like desquamation Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth. hp.json Greasy, thick vernix caseosa-like scale http://purl.obolibrary.org/obo/HP_0025724 HP:0410371 biolink:PhenotypicFeature Increased hepatitis C virus antibody level An abnormally increased level of immunoglobulin against hepatitis C virus in the blood. hp.json http://purl.obolibrary.org/obo/HP_0410371 HP:0410370 biolink:PhenotypicFeature Absence of ganglioside GM3 The absence of ganglioside GM3. hp.json http://purl.obolibrary.org/obo/HP_0410370 HP:0410375 biolink:PhenotypicFeature Increased proportion of naive CD4 T cells hp.json Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells|Elevated proportion of naive CD4 T cells|Increased proportion of CD4+CD45RA+ cells http://purl.obolibrary.org/obo/HP_0410375 HP:0410374 biolink:PhenotypicFeature Abnormal proportion of naive CD8 T cells Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells. hp.json http://purl.obolibrary.org/obo/HP_0410374 HP:0410373 biolink:PhenotypicFeature Abnormal proportion of naive CD4 T cells Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells. hp.json Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells|Abnormal proportion of CD4+CD45RA+ cells http://purl.obolibrary.org/obo/HP_0410373 HP:0410372 biolink:PhenotypicFeature Increased Tn-antigen level An abnormal increase in the concentration of Tn antigen on glycoproteins. hp.json Increased O-GalNac on glycoprotein concentration http://purl.obolibrary.org/obo/HP_0410372 HP:0001747 biolink:PhenotypicFeature Accessory spleen An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. UMLS:C0266631|Fyler:4772|SNOMEDCT_US:10362008 hp.json http://purl.obolibrary.org/obo/HP_0001747 HP:0025714 biolink:PhenotypicFeature Cerebral cortical microinfarct An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions. hp.json http://purl.obolibrary.org/obo/HP_0025714 HP:0001748 biolink:PhenotypicFeature Polysplenia Polysplenia is a congenital disease manifested by multiple small accessory spleens. UMLS:C1856659 hp.json Multiple accessory spleens|Accessory spleens|Multiple small spleens http://purl.obolibrary.org/obo/HP_0001748 HP:0025715 biolink:PhenotypicFeature Abnormal umbilical artery doppler waveform during pregnancy Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester. hp.json http://purl.obolibrary.org/obo/HP_0025715 UBERON:0035784 biolink:AnatomicalEntity seminal clot A portion of semen in a coagulated state. hp.json seminal coagulum http://purl.obolibrary.org/obo/UBERON_0035784 HP:0025716 biolink:PhenotypicFeature Fetal anemia Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery. hp.json http://purl.obolibrary.org/obo/HP_0025716 HP:0001746 biolink:PhenotypicFeature Asplenia Absence (aplasia) of the spleen. SNOMEDCT_US:93030006|SNOMEDCT_US:707147002|SNOMEDCT_US:702624008|Fyler:4771|UMLS:C0600031 hp.json Absent spleen http://purl.obolibrary.org/obo/HP_0001746 HP:0025717 biolink:PhenotypicFeature Skeletal muscle autophagosome accumulation Abnormal accumulation of autophagosomes in skeletal muscle tissue. hp.json Autophagic material in muscle biopsy http://purl.obolibrary.org/obo/HP_0025717 UBERON:0035783 biolink:AnatomicalEntity ganglion of ciliary nerve Any parasympathetic ganglion that extends fibers into the short ciliary nerve. Includes both the main and acccessory ciliary ganglia. hp.json http://purl.obolibrary.org/obo/UBERON_0035783 HP:0025718 biolink:PhenotypicFeature Skeletal muscle hyperechogenicity An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation. hp.json Muscle ultrasound hyperechogenicity|Hyperechoic muscle http://purl.obolibrary.org/obo/HP_0025718 HP:0025719 biolink:PhenotypicFeature Maternal vascular malperfusion Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities. hp.json http://purl.obolibrary.org/obo/HP_0025719 HP:0001743 biolink:PhenotypicFeature Abnormality of the spleen An abnormality of the spleen. UMLS:C4025749 hp.json Abnormality of the spleen http://purl.obolibrary.org/obo/HP_0001743 HP:0025710 biolink:PhenotypicFeature Late young adult onset Onset of disease at an age of greater than or equal to 25 to under 40 years. hp.json http://purl.obolibrary.org/obo/HP_0025710 HP:0001744 biolink:PhenotypicFeature Splenomegaly Abnormal increased size of the spleen. MSH:D013163|SNOMEDCT_US:16294009|UMLS:C0038002 hp.json Increased spleen size http://purl.obolibrary.org/obo/HP_0001744 HP:0025711 biolink:PhenotypicFeature Convergence-retraction nystagmus Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze. hp.json Convergence retraction nystagmus http://purl.obolibrary.org/obo/HP_0025711 HP:0001741 biolink:PhenotypicFeature Phimosis The male foreskin cannot be fully retracted from the head of the penis. SNOMEDCT_US:253854008|UMLS:C0345326 hp.json http://purl.obolibrary.org/obo/HP_0001741 HP:0025712 biolink:PhenotypicFeature Spontaneous chorioamniotic separation Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis). hp.json http://purl.obolibrary.org/obo/HP_0025712 HP:0001742 biolink:PhenotypicFeature Nasal congestion Reduced ability to pass air through the nasal cavity often leading to mouth breathing. UMLS:C0027424|MSH:D015508|SNOMEDCT_US:68235000|SNOMEDCT_US:267100006|SNOMEDCT_US:232209000|UMLS:C0027429 hp.json Blockage of nose|Stuffy nose|Obstruction of nose|Nasal obstruction|Congestion of nose|Nasal blockage http://purl.obolibrary.org/obo/HP_0001742 HP:0025713 biolink:PhenotypicFeature Neurite dystrophy Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins. hp.json Dystrophic neurite http://purl.obolibrary.org/obo/HP_0025713 NCBITaxon:314295 biolink:OrganismalEntity Hominoidea hp.json http://purl.obolibrary.org/obo/NCBITaxon_314295 UBERON:0008192 biolink:AnatomicalEntity tendon of triceps brachii A tendon that attaches_to a triceps brachii. FMA:38380 hp.json tendon of triceps brachii muscle|triceps brachii tendon|triceps tendon http://purl.obolibrary.org/obo/UBERON_0008192 UBERON:0008193 biolink:AnatomicalEntity pneumatized bone A bone that is hollow or contains many air cells, such as the mastoid process of the temporal bone[TMD]. galen:PneumaticBone|FMA:7478|SCTID:333008005|Wikipedia:Skeletal_pneumaticity hp.json hollow bone|pneumatic bone|os pneumaticum http://purl.obolibrary.org/obo/UBERON_0008193 HP:0025703 biolink:PhenotypicFeature Type 2 schizencephaly A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other. hp.json http://purl.obolibrary.org/obo/HP_0025703 HP:0025704 biolink:PhenotypicFeature Type 3 schizencephaly A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter. hp.json http://purl.obolibrary.org/obo/HP_0025704 HP:0001756 biolink:PhenotypicFeature Vestibular hypofunction Reduced functioning of the vestibular apparatus. UMLS:C1848606 hp.json http://purl.obolibrary.org/obo/HP_0001756 HP:0025705 biolink:PhenotypicFeature Abnormal fetal nasal bone visualization Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. hp.json http://purl.obolibrary.org/obo/HP_0025705 HP:0001757 biolink:PhenotypicFeature High-frequency sensorineural hearing impairment A form of sensorineural hearing impairment that affects primarily the higher frequencies. UMLS:C4021775 hp.json High frequency sensorineural hearing impairment|High-tone sensorineural deafness|High-tone sensorineural hearing impairment http://purl.obolibrary.org/obo/HP_0001757 HP:0025706 biolink:PhenotypicFeature Absent fetal nasal bone The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy. hp.json Absence of fetal nasal bone|Unossified nasal bone http://purl.obolibrary.org/obo/HP_0025706 HP:0025707 biolink:PhenotypicFeature Hypoplastic nasal bone Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques. hp.json http://purl.obolibrary.org/obo/HP_0025707 HP:0025708 biolink:PhenotypicFeature Early young adult onset Onset of disease at an age of greater than or equal to 16 to under 19 years. hp.json http://purl.obolibrary.org/obo/HP_0025708 HP:0025709 biolink:PhenotypicFeature Intermediate young adult onset Onset of disease at an age of greater than or equal to 19 to under 25 years. hp.json http://purl.obolibrary.org/obo/HP_0025709 NCBITaxon:314293 biolink:OrganismalEntity Simiiformes hp.json http://purl.obolibrary.org/obo/NCBITaxon_314293 HP:0001750 biolink:PhenotypicFeature Single ventricle The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. Fyler:0200|SNOMEDCT_US:45503006|UMLS:C0152424|Fyler:200 hp.json Common ventricle http://purl.obolibrary.org/obo/HP_0001750 HP:0001751 biolink:PhenotypicFeature Vestibular dysfunction An abnormality of the functioning of the vestibular apparatus. UMLS:C1843865 hp.json Impaired vestibular function|Interictal vestibular dysfunction|Vestibular function defect http://purl.obolibrary.org/obo/HP_0001751 HP:0410399 biolink:PhenotypicFeature Positive blood lead test Detection of lead in the blood. hp.json Increased blood lead level http://purl.obolibrary.org/obo/HP_0410399 HP:0025700 biolink:PhenotypicFeature Anhydramnios A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm. hp.json http://purl.obolibrary.org/obo/HP_0025700 HP:0025701 biolink:PhenotypicFeature Distended jugular lymphatic sacs The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency. hp.json http://purl.obolibrary.org/obo/HP_0025701 HP:0025702 biolink:PhenotypicFeature Type 1 schizencephaly A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. hp.json Trans-mantle schizencephaly http://purl.obolibrary.org/obo/HP_0025702 HP:0410393 biolink:PhenotypicFeature Increased proportion of central memory CD4-positive, alpha-beta T cells An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json Elevated proportion of CD4+ central memory cells|Increased proportion of CD4+ central memory cells|Increased proportion of central memory CD4+, alpha-beta T cell|Elevated proportion central memory CD4-positive, alpha-beta T cells http://purl.obolibrary.org/obo/HP_0410393 UBERON:0008196 biolink:AnatomicalEntity muscle of pectoral girdle Any muscle organ that is part of a pectoral girdle region. FMA:37347|EMAPA:17748 hp.json muscle of shoulder girdle|pectoral girdle muscle http://purl.obolibrary.org/obo/UBERON_0008196 pheno_slim HP:0410392 biolink:PhenotypicFeature Increased proportion of CD8-positive, alpha-beta memory T cells An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp.json http://purl.obolibrary.org/obo/HP_0410392 UBERON:0008198 biolink:AnatomicalEntity nail plate The nail plate is the hard and translucent portion of the nail, composed of keratin. EMAPA:35583|NCIT:C34216|MA:0002708 hp.json lamina unguis http://purl.obolibrary.org/obo/UBERON_0008198 human_reference_atlas HP:0410391 biolink:PhenotypicFeature Increased proportion of CD4-positive, alpha-beta memory T cells An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp.json http://purl.obolibrary.org/obo/HP_0410391 UBERON:0008199 biolink:AnatomicalEntity chin A subdivision of the face that is the anteriormost part of the lower jaw region. MESH:D002680|NCIT:C81169|EMAPA:37827|FMA:46495|galen:Chin|TAO:0002254|GAID:67 hp.json mental region of face|mental part of face|regio mentalis|mental region|mentum http://purl.obolibrary.org/obo/UBERON_0008199 pheno_slim HP:0410390 biolink:PhenotypicFeature Decreased proportion of effector memory CD8-positive, alpha-beta T cells A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json http://purl.obolibrary.org/obo/HP_0410390 HP:0410397 biolink:PhenotypicFeature Bronchiolectasis Saccular dilatation of the terminal bronchioles. hp.json Bronchiolectasia http://purl.obolibrary.org/obo/HP_0410397 HP:0410396 biolink:PhenotypicFeature Increased proportion of central memory CD8-positive, alpha-beta T cells An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json http://purl.obolibrary.org/obo/HP_0410396 HP:0410395 biolink:PhenotypicFeature Increased proportion of effector memory CD8-positive, alpha-beta T cells An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json http://purl.obolibrary.org/obo/HP_0410395 HP:0410394 biolink:PhenotypicFeature Increased proportion of effector memory CD4-positive, alpha-beta T cells An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json http://purl.obolibrary.org/obo/HP_0410394 GO:0051355 biolink:NamedThing proprioception involved in equilibrioception hp.json http://purl.obolibrary.org/obo/GO_0051355 GO:0051356 biolink:BiologicalProcess visual perception involved in equilibrioception The series of events during equilibrioception required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual input plays an important role in the ability of an organism to perceive its orientation with respect to gravity. hp.json equilibrioception by visual perception|visual perception during equilibrioception|perception of orientation with respect to gravity by visual perception http://purl.obolibrary.org/obo/GO_0051356 GO:1905770 biolink:BiologicalProcess regulation of mesodermal cell differentiation Any process that modulates the frequency, rate or extent of mesodermal cell differentiation. hp.json regulation of mesoderm cell differentiation http://purl.obolibrary.org/obo/GO_1905770 GO:1905771 biolink:BiologicalProcess negative regulation of mesodermal cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of mesodermal cell differentiation. hp.json down-regulation of mesoderm cell differentiation|negative regulation of mesoderm cell differentiation|downregulation of mesodermal cell differentiation|inhibition of mesodermal cell differentiation|down regulation of mesoderm cell differentiation|downregulation of mesoderm cell differentiation|inhibition of mesoderm cell differentiation|down-regulation of mesodermal cell differentiation|down regulation of mesodermal cell differentiation http://purl.obolibrary.org/obo/GO_1905771 GO:1905772 biolink:BiologicalProcess positive regulation of mesodermal cell differentiation Any process that activates or increases the frequency, rate or extent of mesodermal cell differentiation. hp.json upregulation of mesoderm cell differentiation|up-regulation of mesodermal cell differentiation|up regulation of mesodermal cell differentiation|activation of mesodermal cell differentiation|up-regulation of mesoderm cell differentiation|up regulation of mesoderm cell differentiation|activation of mesoderm cell differentiation|upregulation of mesodermal cell differentiation|positive regulation of mesoderm cell differentiation http://purl.obolibrary.org/obo/GO_1905772 PR:000050032 biolink:Protein immunoglobulin complex (human) An immunoglobulin complex whose components are encoded in the genome of human. hp.json hIg http://purl.obolibrary.org/obo/PR_000050032 UBERON:0011745 biolink:AnatomicalEntity pulmonary valve leaflets A cardiac valve leaflet that is part of a pulmonary valve. EMAPA:18629|VHOG:0000820 hp.json http://purl.obolibrary.org/obo/UBERON_0011745 pheno_slim IAO:0000116 biolink:NamedThing editor note IAO:0000116 hp.json http://purl.obolibrary.org/obo/IAO_0000116 GO:0051350 biolink:BiologicalProcess negative regulation of lyase activity Any process that stops or reduces the rate of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. hp.json down-regulation of lyase activity|lyase inhibitor|downregulation of lyase activity|down regulation of lyase activity|inhibition of lyase activity http://purl.obolibrary.org/obo/GO_0051350 IAO:0000115 biolink:NamedThing definition hp.json http://purl.obolibrary.org/obo/IAO_0000115 GO:0051353 biolink:BiologicalProcess positive regulation of oxidoreductase activity Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. hp.json oxidoreductase activator|up-regulation of oxidoreductase activity|up regulation of oxidoreductase activity|activation of oxidoreductase activity|ribonucleotide reductase activating enzyme activity|stimulation of oxidoreductase activity|upregulation of oxidoreductase activity http://purl.obolibrary.org/obo/GO_0051353 GO:0051354 biolink:BiologicalProcess negative regulation of oxidoreductase activity Any process that stops or reduces the rate of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. hp.json inhibition of oxidoreductase activity|downregulation of oxidoreductase activity|down-regulation of oxidoreductase activity|oxidoreductase inhibitor|down regulation of oxidoreductase activity http://purl.obolibrary.org/obo/GO_0051354 GO:0051351 biolink:BiologicalProcess positive regulation of ligase activity Any process that activates or increases the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. hp.json up-regulation of ligase activity|up regulation of ligase activity|ligase activator|activation of ligase activity|stimulation of ligase activity|upregulation of ligase activity http://purl.obolibrary.org/obo/GO_0051351 GO:0051352 biolink:BiologicalProcess negative regulation of ligase activity Any process that stops or reduces the rate of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. hp.json down-regulation of ligase activity|down regulation of ligase activity|ligase inhibitor|inhibition of ligase activity|downregulation of ligase activity http://purl.obolibrary.org/obo/GO_0051352 GO:1903119 biolink:BiologicalProcess protein localization to actin cytoskeleton A process in which a protein is transported to, or maintained in, the location of an actin cytoskeleton. hp.json protein localisation in actin cytoskeleton|protein localisation to actin cytoskeleton|protein localization in actin cytoskeleton http://purl.obolibrary.org/obo/GO_1903119 UBERON:0011742 biolink:AnatomicalEntity aortic valve leaflet A cardiac valve leaflet that is part of a aortic valve. EMAPA:18627|VHOG:0000819 hp.json aortic valve leaflets http://purl.obolibrary.org/obo/UBERON_0011742 pheno_slim UBERON:0011741 biolink:AnatomicalEntity cardiac valve leaflet EMAPA:35903|MA:0003179 hp.json valve leaflet http://purl.obolibrary.org/obo/UBERON_0011741 GO:0051378 biolink:MolecularActivity serotonin binding Binding to serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties. hp.json 5-hydroxytryptamine binding http://purl.obolibrary.org/obo/GO_0051378 GO:1903133 biolink:BiologicalProcess negative regulation of tube lumen cavitation Any process that stops, prevents or reduces the frequency, rate or extent of tube lumen cavitation. hp.json inhibition of tube lumen cavitation http://purl.obolibrary.org/obo/GO_1903133 GO:1903132 biolink:BiologicalProcess regulation of tube lumen cavitation Any process that modulates the frequency, rate or extent of tube lumen cavitation. hp.json http://purl.obolibrary.org/obo/GO_1903132 GO:1903131 biolink:BiologicalProcess mononuclear cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. hp.json http://purl.obolibrary.org/obo/GO_1903131 PR:000050060 biolink:Protein glucose-6-phosphate dehydrogenase A protein that contains a single copy of the Glucose-6-phosphate dehydrogenase, NAD binding domain (Pfam:PF00479) at or near the N terminus, a single copy of the Glucose-6-phosphate dehydrogenase, C-terminal domain (Pfam:PF02781) at or near the C terminus, and no other domains. hp.json fam:G6PD http://purl.obolibrary.org/obo/PR_000050060 GO:0051380 biolink:MolecularActivity norepinephrine binding Binding to norepinephrine, (3,4-dihydroxyphenyl-2-aminoethanol), a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine. hp.json noradrenaline binding http://purl.obolibrary.org/obo/GO_0051380 GO:2000700 biolink:BiologicalProcess positive regulation of cardiac muscle cell myoblast differentiation Any process that activates or increases the frequency, rate or extent of cardiac muscle cell myoblast differentiation. hp.json positive regulation of cardiac myoblast differentiation|positive regulation of myocardial precursor cell differentiation http://purl.obolibrary.org/obo/GO_2000700 UBERON:0011779 biolink:AnatomicalEntity nerve of head region A nerve that is part of a head. hp.json head nerve|cephalic nerve http://purl.obolibrary.org/obo/UBERON_0011779 grouping_class CHEBI:16526 biolink:ChemicalSubstance carbon dioxide A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food. MolBase:752|PMID:23828359|PMID:14639145|PMID:11802652|UM-BBD_compID:c0131|CAS:124-38-9|PMID:9611769|PMID:8869828|Gmelin:989|PMID:19259576|PMID:10826146|PDBeChem:CO2|CAS:124-38-9|KEGG:D00004|CAS:124-38-9|HMDB:HMDB0001967|Drug_Central:4256|PMID:19854893|MetaCyc:CARBON-DIOXIDE|PMID:16656478|Wikipedia:Carbon_dioxide|PMID:8482095|PPDB:119|PMID:17190796|KEGG:C00011|PMID:19043767|PMID:17448243|PMID:17884085|PMID:9730350|Beilstein:1900390|Reaxys:1900390|PMID:8818713|PMID:15050588|PMID:17878298|PMID:11094503|PMID:23384758|PMID:11584085|PMID:16591971|PMID:16659660|PMID:24258718 hp.json E 290|[CO2]|carbonic anhydride|CO2|R-744|carbon dioxide|methanedione|CO2|Carbon dioxide|dioxidocarbon|E290|CARBON DIOXIDE|E-290 http://purl.obolibrary.org/obo/CHEBI_16526 3_STAR UBERON:0011777 biolink:AnatomicalEntity nucleus of spinal cord A neural nucleus that is part of the spinal cord. FMA:77011 hp.json spinal cord nucleus http://purl.obolibrary.org/obo/UBERON_0011777 grouping_class UBERON:0011775 biolink:AnatomicalEntity vagus nerve nucleus A cranial nerve nucleus that is associated with a vagus nerve. SCTID:362467005|FMA:54573 hp.json nucleus of Xth nerve|nucleus of vagus nerve|vagal X nucleus|vagal X nucleus|nodosal nucleus|nodosal nucleus|tenth cranial nerve nucleus|nucleus of vagal nerve|vagus nucleus|vagus nucleus|vagal nucleus|vagal nucleus|nucleus of vagal X nerve http://purl.obolibrary.org/obo/UBERON_0011775 GO:2000725 biolink:BiologicalProcess regulation of cardiac muscle cell differentiation Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation. hp.json regulation of cardiomyocyte differentiation|regulation of heart muscle cell differentiation http://purl.obolibrary.org/obo/GO_2000725 UBERON:0011773 biolink:AnatomicalEntity upper jaw opening An anatomical space that is part of a bone of upper jaw. AAO:0000621 hp.json http://purl.obolibrary.org/obo/UBERON_0011773 GO:2000726 biolink:BiologicalProcess negative regulation of cardiac muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation. hp.json negative regulation of cardiomyocyte differentiation|negative regulation of heart muscle cell differentiation http://purl.obolibrary.org/obo/GO_2000726 UBERON:0011772 biolink:AnatomicalEntity lower jaw opening An anatomical space that is part of a bone of lower jaw. AAO:0000273 hp.json http://purl.obolibrary.org/obo/UBERON_0011772 GO:2000727 biolink:BiologicalProcess positive regulation of cardiac muscle cell differentiation Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation. hp.json positive regulation of cardiomyocyte differentiation|positive regulation of heart muscle cell differentiation http://purl.obolibrary.org/obo/GO_2000727 UBERON:0011767 biolink:AnatomicalEntity right recurrent laryngeal nerve EMAPA:17275|FMA:14468|MA:0001108|SCTID:280299003 hp.json right recurrent laryngeal branch|vagus X nerve right recurrent laryngeal branch|right recurrent laryngeal nerve http://purl.obolibrary.org/obo/UBERON_0011767 UBERON:0011766 biolink:AnatomicalEntity left recurrent laryngeal nerve EMAPA:25350|FMA:14469|SCTID:280300006|MA:0001107 hp.json vagus X nerve left recurrent laryngeal branch|left recurrent laryngeal branch|left recurrent laryngeal nerve http://purl.obolibrary.org/obo/UBERON_0011766 UBERON:0011769 biolink:AnatomicalEntity cartilaginous projection Anatomical projection that is composed of cartilage tissue. FMA:284626 hp.json cartilaginous process|cartilage process http://purl.obolibrary.org/obo/UBERON_0011769 GO:2000736 biolink:BiologicalProcess regulation of stem cell differentiation Any process that modulates the frequency, rate or extent of stem cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2000736 GO:1903179 biolink:BiologicalProcess regulation of dopamine biosynthetic process Any process that modulates the frequency, rate or extent of dopamine biosynthetic process. hp.json regulation of dopamine formation|regulation of dopamine anabolism|regulation of dopamine biosynthesis|regulation of dopamine synthesis http://purl.obolibrary.org/obo/GO_1903179 GO:2000737 biolink:BiologicalProcess negative regulation of stem cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2000737 GO:2000738 biolink:BiologicalProcess positive regulation of stem cell differentiation Any process that activates or increases the frequency, rate or extent of stem cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2000738 UBERON:0011757 biolink:AnatomicalEntity differentiated genital tubercle UMLS:C1514448|NCIT:C34274 hp.json phallus|primordial phallus|phallus primordialis http://purl.obolibrary.org/obo/UBERON_0011757 UBERON:0011756 biolink:AnatomicalEntity male genital swelling A genital swelling that is part of a male reproductive organ. EHDAA2:0001049|EMAPA:30509 hp.json labioscrotal swelling of male|scrotal bulge|scrotal primordium http://purl.obolibrary.org/obo/UBERON_0011756 UBERON:0011755 biolink:AnatomicalEntity female labial swelling A genital swelling that is part of a female reproductive system. EHDAA2:0000501|EMAPA:30423|EMAPA:18329|EHDAA:9363 hp.json labial swelling|labial primordium|labioscrotal swelling of female http://purl.obolibrary.org/obo/UBERON_0011755 UBERON:0011754 biolink:AnatomicalEntity genital swelling Paired structures in the embryo that represent the final stage of development of the caudal end of the external genitals before sexual differentiation. In both males and females the two swellings merge: in the female, they become the posterior labial commissure; In the male, they become the scrotum. VHOG:0000976|EMAPA:35377|EMAPA:30074 hp.json tuberculum labioscrotale|labioscrotal swelling http://purl.obolibrary.org/obo/UBERON_0011754 GO:1903181 biolink:BiologicalProcess positive regulation of dopamine biosynthetic process Any process that activates or increases the frequency, rate or extent of dopamine biosynthetic process. hp.json upregulation of dopamine biosynthetic process|up regulation of dopamine anabolism|upregulation of dopamine biosynthesis|upregulation of dopamine formation|positive regulation of dopamine synthesis|up-regulation of dopamine anabolism|activation of dopamine anabolism|up regulation of dopamine synthesis|positive regulation of dopamine formation|up-regulation of dopamine biosynthesis|up-regulation of dopamine biosynthetic process|up-regulation of dopamine synthesis|up regulation of dopamine formation|activation of dopamine synthesis|up regulation of dopamine biosynthesis|upregulation of dopamine anabolism|up regulation of dopamine biosynthetic process|up-regulation of dopamine formation|activation of dopamine formation|positive regulation of dopamine biosynthesis|activation of dopamine biosynthetic process|activation of dopamine biosynthesis|upregulation of dopamine synthesis|positive regulation of dopamine anabolism http://purl.obolibrary.org/obo/GO_1903181 GO:1903180 biolink:BiologicalProcess negative regulation of dopamine biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of dopamine biosynthetic process. hp.json negative regulation of dopamine formation|down-regulation of dopamine formation|down regulation of dopamine biosynthetic process|down regulation of dopamine biosynthesis|downregulation of dopamine anabolism|inhibition of dopamine biosynthetic process|inhibition of dopamine biosynthesis|down regulation of dopamine anabolism|downregulation of dopamine biosynthesis|downregulation of dopamine biosynthetic process|downregulation of dopamine synthesis|inhibition of dopamine anabolism|negative regulation of dopamine anabolism|down-regulation of dopamine anabolism|downregulation of dopamine formation|down regulation of dopamine synthesis|inhibition of dopamine synthesis|negative regulation of dopamine synthesis|down regulation of dopamine formation|down-regulation of dopamine synthesis|negative regulation of dopamine biosynthesis|inhibition of dopamine formation|down-regulation of dopamine biosynthetic process|down-regulation of dopamine biosynthesis http://purl.obolibrary.org/obo/GO_1903180 CHEBI:16541 biolink:ChemicalSubstance protein polypeptide chain A naturally occurring polypeptide synthesized at the ribosome. KEGG:C00017 hp.json Protein|protein polypeptide chains|polypeptide chain|a protein http://purl.obolibrary.org/obo/CHEBI_16541 3_STAR PR:000050025 biolink:Protein angiotensinogenase A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. hp.json fam:angiotensinogenase http://purl.obolibrary.org/obo/PR_000050025 UBERON:0008114 biolink:AnatomicalEntity joint of girdle A skeletal joint that is part of a appendage girdle region. MA:0001505 hp.json girdle joint http://purl.obolibrary.org/obo/UBERON_0008114 grouping_class UBERON:0008115 biolink:AnatomicalEntity surface of cartilage An anatomical surface that is part of a cartilage element. FMA:76668 hp.json cartilage surface http://purl.obolibrary.org/obo/UBERON_0008115 HP:0011098 biolink:PhenotypicFeature Speech apraxia A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. UMLS:C0264611|SNOMEDCT_US:361277007|UMLS:C0349391|SNOMEDCT_US:361276003|MSH:D001072|SNOMEDCT_US:74227009 hp.json Apraxia of speech|Speech dyspraxia|Verbal dyspraxia http://purl.obolibrary.org/obo/HP_0011098 HP:0011099 biolink:PhenotypicFeature Spastic hemiparesis Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes. MSH:D006429|SNOMEDCT_US:79633009|UMLS:C0154694 hp.json Spastic hemiplegia http://purl.obolibrary.org/obo/HP_0011099 HP:0011090 biolink:PhenotypicFeature Fused teeth The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. SNOMEDCT_US:1744008|MSH:D005671|UMLS:C0016873 hp.json Joined teeth|Fusion of teeth|Fused teeth http://purl.obolibrary.org/obo/HP_0011090 hposlim_core HP:0011091 biolink:PhenotypicFeature Gemination The development of two teeth from a single tooth bud, leading to a larger fused tooth. SNOMEDCT_US:40273006|UMLS:C0266033 hp.json Splitting of crown of tooth|Gemination of tooth http://purl.obolibrary.org/obo/HP_0011091 HP:0011092 biolink:PhenotypicFeature Mulberry molar Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. SNOMEDCT_US:109436001|UMLS:C0266024 hp.json Syphilitic permanent first molar http://purl.obolibrary.org/obo/HP_0011092 HP:0011093 biolink:PhenotypicFeature Molarization of premolar Increased size and molar morphology of premolar tooth. UMLS:C1404304|UMLS:C4280334 hp.json Molar shape of bicuspid|Molarization of bicuspid|Enlarged premolar|Molar shape of premolar|Increased size of premolar http://purl.obolibrary.org/obo/HP_0011093 HP:0011094 biolink:PhenotypicFeature Increased overbite Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm. MSH:D057887|SNOMEDCT_US:10816007|SNOMEDCT_US:251293001|UMLS:C0266067|UMLS:C1305740|UMLS:C0266063|SNOMEDCT_US:63783001|SNOMEDCT_US:60476005 hp.json Overbite|Supraocclusion|Scissors bite|Deep overbite|Deep bite|Increased overlap of upper and lower incisors http://purl.obolibrary.org/obo/HP_0011094 HP:0011095 biolink:PhenotypicFeature Overjet An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure. MSH:D057887|UMLS:C0596028|SNOMEDCT_US:70305005|SNOMEDCT_US:251292006 hp.json Protrusion of the maxillary incisors|Upper teeth sticking out forward|Protrusion of upper teeth in front of lower teeth|Buck teeth|Abnormality of horizontal incisor relationship http://purl.obolibrary.org/obo/HP_0011095 HP:0011096 biolink:PhenotypicFeature Peripheral demyelination A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. UMLS:C0878575 hp.json Demyelination http://purl.obolibrary.org/obo/HP_0011096 HP:0011097 biolink:PhenotypicFeature Epileptic spasm A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages UMLS:C1527366|SNOMEDCT_US:28055006|UMLS:C0037769|MSH:D013036 hp.json Salaam seizure|Epileptic spasms|Salaam seizures|Salaam convulsion|West syndrome|Salaam convulsions http://purl.obolibrary.org/obo/HP_0011097 PR:000001020 biolink:Protein CD3 epsilon A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. IUPHARobj:2742 hp.json T3E|T-cell surface antigen T3/Leu-4 epsilon chain|CD3E|CD3e http://purl.obolibrary.org/obo/PR_000001020 PR:000001023 biolink:Protein neural cell adhesion molecule NCAM A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. PIRSF:PIRSF501037 hp.json http://purl.obolibrary.org/obo/PR_000001023 PR:000001022 biolink:Protein neural cell adhesion molecule A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. PIRSF:PIRSF002507 hp.json http://purl.obolibrary.org/obo/PR_000001022 CHEBI:77450 biolink:ChemicalSubstance dicarboxylic acid monoamide(1-) A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any dicarboxylic acid monoamide; major species at pH 7.3. MetaCyc:DICARBOXYLIC-ACID-MONOAMIDES hp.json a monoamide of a dicarboxylate http://purl.obolibrary.org/obo/CHEBI_77450 3_STAR PR:000001024 biolink:Protein neural cell adhesion molecule 1 A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. IUPHARobj:2769 hp.json NCAM|NCAM-1|N-CAM-1|CD56|NCAM1 http://purl.obolibrary.org/obo/PR_000001024 HP:0011087 biolink:PhenotypicFeature Talon cusp Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). UMLS:C0399357|SNOMEDCT_US:63691004|SNOMEDCT_US:234955005|UMLS:C4280335|UMLS:C0266034 hp.json Talon cusps|Dens evaginatus|Extra cusp on inside of front tooth http://purl.obolibrary.org/obo/HP_0011087 hposlim_core HP:0011088 biolink:PhenotypicFeature Dens in dente An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth. UMLS:C0011320|MSH:D003719|SNOMEDCT_US:55197001 hp.json Tooth within a tooth|Dens invaginatus http://purl.obolibrary.org/obo/HP_0011088 HP:0011089 biolink:PhenotypicFeature Double tooth Fusion of two adjacent teeth. SNOMEDCT_US:1744008|MSH:D005671|UMLS:C0016873 hp.json Twinning tooth|Double tooth|Teeth, double|Conjoined teeth http://purl.obolibrary.org/obo/HP_0011089 HP:0011080 biolink:PhenotypicFeature Abnormal premolar morphology An abnormality of morphology of premolar tooth. UMLS:C4023545 hp.json Abnormality of shape of premolar|Abnormality of shape of bicuspid|Abnormality of bicuspid morphology|Abnormality of premolar morphology http://purl.obolibrary.org/obo/HP_0011080 HP:0011081 biolink:PhenotypicFeature Incisor macrodontia Increased size of the incisor tooth. UMLS:C4023544|UMLS:C4280337 hp.json Large incisor|Increased width of incisor|Increased size of incisor|Hyperplasia of incisor|Hypertrophy of incisor http://purl.obolibrary.org/obo/HP_0011081 GO:0002351 biolink:BiologicalProcess serotonin production involved in inflammatory response The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. hp.json serotonin production involved in acute inflammatory response http://purl.obolibrary.org/obo/GO_0002351 HP:0011082 biolink:PhenotypicFeature Conical primary incisor An abnormal conical morphology of the primary incisor. UMLS:C4023543 hp.json Primary front shark tooth|Conical deciduous incisor|Peg shaped primary incisor|Conoid primary incisor|Pointed primary incisor|Cone shaped front baby tooth|Pointed front baby tooth|Peg shaped front baby tooth http://purl.obolibrary.org/obo/HP_0011082 HP:0011083 biolink:PhenotypicFeature Conical maxillary incisor An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both. UMLS:C4023542 hp.json Pointed maxillary incisor|Conoid maxillary incisor|Upper front shark tooth|Cone shaped upper front tooth|Cone shaped maxillary incisor|Peg shaped upper front tooth|Pointed upper front tooth http://purl.obolibrary.org/obo/HP_0011083 HP:0011084 biolink:PhenotypicFeature Hypocalcification of dental enamel A form of hypomineralization of enamel characterized by reduced calcification. UMLS:C4023541 hp.json Decreased enamel calcification|Poorly calcified tooth enamel http://purl.obolibrary.org/obo/HP_0011084 HP:0011085 biolink:PhenotypicFeature Hypomature dental enamel A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. UMLS:C4023540|UMLS:C4280336|UMLS:C4280266 hp.json Immature tooth enamel|Soft teeth|Soft tooth enamel http://purl.obolibrary.org/obo/HP_0011085 HP:0011086 biolink:PhenotypicFeature Dentinogenesis imperfecta of primary and permanent teeth Developmental dysplasia of dentin or both the primary dentition and the permanent dentition. UMLS:C4023539 hp.json Dentinogenesis imperfecta of both sets of teeth|Dentinogenesis imperfecta of adult and baby teeth http://purl.obolibrary.org/obo/HP_0011086 HP:0011076 biolink:PhenotypicFeature Abnormality of premolar An abnormality of premolar tooth. UMLS:C4023548 hp.json Abnormality of premolar|Abnormality of bicuspid http://purl.obolibrary.org/obo/HP_0011076 HP:0011077 biolink:PhenotypicFeature Abnormality of molar An abnormality of molar tooth. UMLS:C4023547 hp.json Abnormality of molar http://purl.obolibrary.org/obo/HP_0011077 HP:0011078 biolink:PhenotypicFeature Abnormality of canine An abnormality of canine tooth. UMLS:C4023546 hp.json Abnormality of canine|Abnormality of eye tooth http://purl.obolibrary.org/obo/HP_0011078 HP:0011079 biolink:PhenotypicFeature Impacted tooth A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth). MSH:D014095|UMLS:C0040456|SNOMEDCT_US:235104008|SNOMEDCT_US:129263008|UMLS:C4280338 hp.json Impacted tooth|Buried tooth|Retained tooth http://purl.obolibrary.org/obo/HP_0011079 hposlim_core GO:0002320 biolink:BiologicalProcess lymphoid progenitor cell differentiation The process in which a precursor cell type acquires the specialized features of a lymphoid progenitor cell. Lymphoid progenitor cells include progenitor cells for any of the lymphoid lineages. hp.json http://purl.obolibrary.org/obo/GO_0002320 GO:0002322 biolink:BiologicalProcess B cell proliferation involved in immune response The expansion of a B cell population by cell division following B cell activation during an immune response. hp.json B-lymphocyte proliferation during immune response|B cell proliferation during immune response|B lymphocyte proliferation during immune response|B-cell proliferation during immune response http://purl.obolibrary.org/obo/GO_0002322 OBO:HsapDv_0000204 biolink:NamedThing mature stage Human developmental stage that refers to a sexually mature human. UBERON:0000113 hp.json http://purl.obolibrary.org/obo/HsapDv_0000204 HP:0011070 biolink:PhenotypicFeature Abnormal molar morphology An abnormality of morphology of molar tooth. UMLS:C4023553 hp.json Abnormality of molar morphology|Abnormal shape of molar tooth http://purl.obolibrary.org/obo/HP_0011070 HP:0011071 biolink:PhenotypicFeature Abnormality of permanent molar morphology An abnormality of morphology of permanent molar. UMLS:C4023552 hp.json Abnormality of shape of adult molar|Abnormality of shape of permanent molar http://purl.obolibrary.org/obo/HP_0011071 HP:0011072 biolink:PhenotypicFeature Rootless teeth UMLS:C4082200|SNOMEDCT_US:109493006|UMLS:C0399379|MSH:C538215 hp.json Agenesis of tooth root|Aplasia of tooth root|Missing tooth root|Rootless teeth|Teeth without roots|Absence of tooth root|Tooth with dentin dysplasia type i http://purl.obolibrary.org/obo/HP_0011072 HP:0011073 biolink:PhenotypicFeature Abnormality of dental color A developmental defect of tooth color. UMLS:C4023551 hp.json Abnormality of tooth colour|Abnormality of tooth color|Abnormality of tooth shade|Abnormality of dental colour|Abnormality of dental color|Abnormality of dental shade http://purl.obolibrary.org/obo/HP_0011073 HP:0011074 biolink:PhenotypicFeature Localized hypoplasia of dental enamel A localized form of developmental hypoplasia of the dental enamel. UMLS:C4023550|UMLS:C4280339 hp.json Localized hypoplasia of tooth enamel|Localized dysplasia of tooth enamel|Localised dysplasia of tooth enamel|Localised hypoplasia of tooth enamel|Localised hypoplasia of dental enamel http://purl.obolibrary.org/obo/HP_0011074 HP:0011075 biolink:PhenotypicFeature Green teeth A green staining of teeth. UMLS:C4023549 hp.json Green colored teeth|Green tooth shade|Green teeth|Green coloured teeth http://purl.obolibrary.org/obo/HP_0011075 PR:000001003 biolink:Protein CD34 molecule A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. PIRSF:PIRSF028749 hp.json hematopoietic progenitor cell antigen CD34|CD34 http://purl.obolibrary.org/obo/PR_000001003 PR:000001002 biolink:Protein CD19 molecule A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. PIRSF:PIRSF016630|IUPHARobj:2764 hp.json B-lymphocyte surface antigen B4|T-cell surface antigen Leu-12|CD19|differentiation antigen CD19 http://purl.obolibrary.org/obo/PR_000001002 PR:000001005 biolink:Protein integrin alpha with A domain An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. PIRSF:PIRSF002497 hp.json integrin alpha with I domain http://purl.obolibrary.org/obo/PR_000001005 PR:000001004 biolink:Protein CD4 molecule A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence. PIRSF:PIRSF001977 hp.json T-cell surface glycoprotein CD4|T-cell surface antigen T4/Leu-3|T-cell differentiation antigen L3T4|CD4 http://purl.obolibrary.org/obo/PR_000001004 PR:000001006 biolink:Protein receptor-type tyrosine-protein phosphatase C A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. PIRSF:PIRSF002004|IUPHARobj:1852 hp.json leukocyte common antigen|lymphocyte antigen 5|L-CA|PTPRC|CD45|ly-5|T200 http://purl.obolibrary.org/obo/PR_000001006 PR:000040662 biolink:Protein cathepsin-like protease A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. hp.json cathepsin|fam:CTS http://purl.obolibrary.org/obo/PR_000040662 HP:0011065 biolink:PhenotypicFeature Conical incisor An abnormal conical morphology of the incisor tooth. UMLS:C1856136|UMLS:C4280342|UMLS:C4280341|UMLS:C4020759 hp.json Cone shaped front tooth|Peg shaped incisors|Pointed incisor|Peg shaped front tooth|Pointed front tooth|Conoid incisor|Shark tooth incisor|Peg-shaped incisors http://purl.obolibrary.org/obo/HP_0011065 GO:0051302 biolink:BiologicalProcess regulation of cell division Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells. hp.json http://purl.obolibrary.org/obo/GO_0051302 GO:0002335 biolink:NamedThing mature B cell differentiation hp.json http://purl.obolibrary.org/obo/GO_0002335 GO:0051303 biolink:BiologicalProcess establishment of chromosome localization The directed movement of a chromosome to a specific location. hp.json chromosome positioning|establishment of chromosome localisation http://purl.obolibrary.org/obo/GO_0051303 HP:0011067 biolink:PhenotypicFeature Mesiodens A supernumerary tooth in the midline between the maxillary central incisors. MSH:D014096|UMLS:C0266030|UMLS:C0040457|SNOMEDCT_US:17802000|UMLS:C4280340|SNOMEDCT_US:8666004|SNOMEDCT_US:266414008|SNOMEDCT_US:367534004 hp.json Extra tooth in the midline|Median supernumary tooth|Mesiodentes|Extra tooth|Midline supernumary tooth http://purl.obolibrary.org/obo/HP_0011067 GO:0051301 biolink:BiologicalProcess cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. Wikipedia:Cell_division hp.json http://purl.obolibrary.org/obo/GO_0051301 goslim_pir|goslim_chembl|goslim_drosophila HP:0011068 biolink:PhenotypicFeature Odontoma The presence of an odontoma. UMLS:C0028882|SNOMEDCT_US:79074005|MSH:D009810 hp.json Odontomas http://purl.obolibrary.org/obo/HP_0011068 GO:0004994 biolink:MolecularActivity somatostatin receptor activity Combining with somatostatin to initiate a change in cell activity. Somatostatin is a peptide hormone that regulates the endocrine system by signaling via G protein-coupled somatostatin receptors. Somatostatin has two active forms produced by proteolytic cleavage: a 14 amino acid peptide (SST-14) and a 28 amino acid peptide (SST-28). hp.json SRIF receptor activity|SST receptor activity|growth hormone-inhibiting hormone receptor activity|GHIH receptor activity|somatotrophin release inhibiting factor receptor activity http://purl.obolibrary.org/obo/GO_0004994 HP:0011069 biolink:PhenotypicFeature Supernumerary tooth The presence of one or more teeth additional to the normal number. MSH:D014096|UMLS:C0040457|SNOMEDCT_US:8666004|SNOMEDCT_US:266414008|SNOMEDCT_US:367534004 hp.json Supernumerary teeth|More teeth than normal|Supernumary teeth|Tooth, supernumerary|Supplemental dentition|Supplemental teeth|Supernumary dentition|Increased tooth count|Extra teeth|Increased number of teeth|Hyperdontia http://purl.obolibrary.org/obo/HP_0011069 hposlim_core GO:0004993 biolink:MolecularActivity G protein-coupled serotonin receptor activity Combining with the biogenic amine serotonin and transmitting the signal across the membrane by activating an associated G-protein. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates. Wikipedia:5-HT_receptor hp.json G protein coupled serotonin receptor activity|5-HT receptor|5-hydroxytryptamine receptor|G-protein coupled serotonin receptor activity http://purl.obolibrary.org/obo/GO_0004993 HP:0011060 biolink:PhenotypicFeature Dentinogenesis imperfecta limited to primary teeth Developmental dysplasia of dentin affecting only the primary dentition. UMLS:C4023558|UMLS:C0011430|SNOMEDCT_US:109492001|MSH:D003805 hp.json Dentinogenesis imperfecta of baby teeth http://purl.obolibrary.org/obo/HP_0011060 HP:0011061 biolink:PhenotypicFeature Abnormality of dental structure An abnormality of the structure or composition of the teeth. UMLS:C4023557 hp.json Abnormality of tooth structure|Abnormality of tooth part http://purl.obolibrary.org/obo/HP_0011061 HP:0011062 biolink:PhenotypicFeature Misalignment of incisors Misaligned incisor. UMLS:C4280343|UMLS:C4023556 hp.json Abnormality of position of incisors|Crooked incisors|Crooked front teeth|Misalignment of incisors|Malposition of incisors|Abnormality of alignment of incisors http://purl.obolibrary.org/obo/HP_0011062 HP:0011063 biolink:PhenotypicFeature Abnormal incisor morphology An abnormality of morphology of the incisor tooth. UMLS:C4023555 hp.json Abnormality of shape of incisor|Abnormality of incisor morphology http://purl.obolibrary.org/obo/HP_0011063 HP:0011064 biolink:PhenotypicFeature Abnormal number of incisors The presence of an altered number of the incisor teeth. UMLS:C4023554 hp.json Abnormal number of incisors|Abnormal number of front teeth http://purl.obolibrary.org/obo/HP_0011064 PR:000001012 biolink:Protein integrin alpha-M An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. IUPHARobj:2452 hp.json leukocyte adhesion receptor MO1|CD11 antigen-like family member B|ITGAM|cell surface glycoprotein MAC-1 subunit alpha|CD11B|CR3A|CR-3 alpha chain|neutrophil adherence receptor|CD11b http://purl.obolibrary.org/obo/PR_000001012 PR:000001014 biolink:Protein receptor-type tyrosine-protein phosphatase C isoform CD45RABC A receptor-type tyrosine-protein phosphatase C that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-3 or a 1:1 ortholog thereof. hp.json CD45R|PTPRC/iso:CD45RABC|B220|CD45RABC http://purl.obolibrary.org/obo/PR_000001014 PR:000001013 biolink:Protein integrin alpha-X An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. IUPHARobj:2454 hp.json leukocyte adhesion glycoprotein p150,95 alpha chain|CD11 antigen-like family member C|Leu M5|leukocyte adhesion receptor p150,95|CD11C|ITGAX|CD11c http://purl.obolibrary.org/obo/PR_000001013 PR:000001015 biolink:Protein receptor-type tyrosine-protein phosphatase C isoform CD45RA A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. hp.json CD45RA|PTPRC/iso:CD45RA http://purl.obolibrary.org/obo/PR_000001015 PR:000001018 biolink:Protein CD3 subunit with immunoglobulin domain A protein with a core domain composition consisting of an extracellular N-terminal domain that adopts an immunoglobulin fold, a transmembrane domain, and an intracellular C-terminal domain with a single copy of the Immunoreceptor tyrosine-based activation motif (Pfam:PF02189) (ITAM). It constitutes the invariant subunit of the T cell antigen receptor (TCR). TCR is a surface receptor on T cells responsible for recognizing MHC-restricted antigens and initiating the cellular immune response. PIRSF:PIRSF001993 hp.json CD3 subunit with Ig-like domain http://purl.obolibrary.org/obo/PR_000001018 GO:0004967 biolink:MolecularActivity glucagon receptor activity Combining with glucagon and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. hp.json http://purl.obolibrary.org/obo/GO_0004967 GO:0051319 biolink:BiologicalProcess G2 phase The cell cycle 'gap' phase which is the interval between the completion of DNA synthesis and the beginning of DNA segregation (usually by mitosis or meiosis). Wikipedia:G2_phase hp.json http://purl.obolibrary.org/obo/GO_0051319 gocheck_do_not_annotate UBERON:0011823 biolink:AnatomicalEntity dense connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets. NCIT:C32450|AAO:0000121|UMLS:C1511770|Wikipedia:Dense_connective_tissue hp.json http://purl.obolibrary.org/obo/UBERON_0011823 UBERON:0011822 biolink:AnatomicalEntity dense irregular connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. FMA:20109|NCIT:C32882|UMLS:C0738366|Wikipedia:Dense_irregular_connective_tissue hp.json typus irregularis (textus connectivus collagenosus compactus)|irregular dense connective tissue http://purl.obolibrary.org/obo/UBERON_0011822 GO:1905720 biolink:CellularComponent cytoplasmic microtubule bundle Any microtubule bundle that is part of a cytoplasm. hp.json microtubule fascicle of cytoplasm|microtubule bundle of cytoplasm http://purl.obolibrary.org/obo/GO_1905720 UBERON:0011821 biolink:AnatomicalEntity irregular connective tissue Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. FMA:20107 hp.json http://purl.obolibrary.org/obo/UBERON_0011821 UBERON:0011820 biolink:AnatomicalEntity atrioventricular region An anatomical junction that divides and overlaps with and atrium and a ventricle in the heart. EHDAA2:0004149|FMA:85125 hp.json AV region|AV region|atrioventricular segment|atrial ventricular junction|atrioventricular segment|AV segment|AV segment|atrioventricular junction http://purl.obolibrary.org/obo/UBERON_0011820 human_reference_atlas UBERON:0011827 biolink:AnatomicalEntity areolar gland A sebaceous glands in the areola surrounding the nipple. NCIT:C92833|UMLS:C0929386|FMA:58090|MA:0000794|EMAPA:37668 hp.json gland of Montgomery|accessory gland of Montgomery|accessory gland of breast|mammary gland sebaceous gland|Montgomery's gland http://purl.obolibrary.org/obo/UBERON_0011827 UBERON:0011825 biolink:AnatomicalEntity loose connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. UMLS:C1253917|Wikipedia:Loose_connective_tissue|NCIT:C33007|FMA:19783 hp.json textus connectivus laxus|textus connectivus collagenosus laxus http://purl.obolibrary.org/obo/UBERON_0011825 UBERON:0011824 biolink:AnatomicalEntity fibrous connective tissue SCTID:363130003|FMA:75634 hp.json http://purl.obolibrary.org/obo/UBERON_0011824 CHEBI:16498 biolink:ChemicalSubstance N-acylneuraminic acid Any neuraminic acid carrying an N-acyl substituent. KEGG:C00591 hp.json N-acylneuraminic acids|5-alkanamido-3,5-dideoxy-D-glycero-D-galacto-non-2-ulopyranosonic acid|N-Acylneuraminate http://purl.obolibrary.org/obo/CHEBI_16498 3_STAR GO:0002309 biolink:BiologicalProcess T cell proliferation involved in immune response The expansion of a T cell population by cell division as part of an immune response. hp.json T cell proliferation during immune response|T lymphocyte proliferation during immune response|T-cell proliferation during immune response|T-lymphocyte proliferation during immune response http://purl.obolibrary.org/obo/GO_0002309 GO:0002313 biolink:NamedThing mature B cell differentiation involved in immune response hp.json http://purl.obolibrary.org/obo/GO_0002313 GO:0051325 biolink:BiologicalProcess interphase The cell cycle phase following cytokinesis which begins with G1 phase, proceeds through S phase and G2 phase and ends when prophase of meiosis or mitosis begins. During interphase the cell readies itself for meiosis or mitosis and the replication of its DNA occurs. Wikipedia:Interphase hp.json karyostasis|resting phase http://purl.obolibrary.org/obo/GO_0051325 gocheck_do_not_annotate GO:0002312 biolink:BiologicalProcess B cell activation involved in immune response The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. hp.json B lymphocyte activation during immune response|B-lymphocyte activation during immune response|B cell activation during immune response|B-cell activation during immune response http://purl.obolibrary.org/obo/GO_0002312 PR:000001083 biolink:Protein CD2 molecule A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. IUPHARobj:2600|PIRSF:PIRSF001984 hp.json CD2|LFA-3 receptor|T-cell surface antigen T11/Leu-5|LFA-2|T-cell surface glycoprotein CD2|lymphocyte antigen 37|erythrocyte receptor|SRBC|T-cell surface antigen CD2|rosette receptor|ly-37 http://purl.obolibrary.org/obo/PR_000001083 PR:000001084 biolink:Protein T-cell surface glycoprotein CD8 alpha chain A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. PANTHER:PTHR10441:SF1 hp.json Lyt-2|Lyt2|MAL|T-lymphocyte differentiation antigen T8/Leu-2|CD8A|CD8a|T-cell surface glycoprotein Lyt-2 http://purl.obolibrary.org/obo/PR_000001084 GO:2000790 biolink:BiologicalProcess regulation of mesenchymal cell proliferation involved in lung development Any process that modulates the frequency, rate or extent of mesenchymal cell proliferation involved in lung development. hp.json http://purl.obolibrary.org/obo/GO_2000790 GO:2000791 biolink:BiologicalProcess negative regulation of mesenchymal cell proliferation involved in lung development Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal cell proliferation involved in lung development. hp.json http://purl.obolibrary.org/obo/GO_2000791 GO:2000792 biolink:BiologicalProcess positive regulation of mesenchymal cell proliferation involved in lung development Any process that activates or increases the frequency, rate or extent of mesenchymal cell proliferation involved in lung development. hp.json http://purl.obolibrary.org/obo/GO_2000792 GO:2000794 biolink:BiologicalProcess regulation of epithelial cell proliferation involved in lung morphogenesis Any process that modulates the frequency, rate or extent of epithelial cell proliferation involved in lung morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_2000794 GO:2000795 biolink:BiologicalProcess negative regulation of epithelial cell proliferation involved in lung morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of epithelial cell proliferation involved in lung morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_2000795 UBERON:0011814 biolink:AnatomicalEntity non-neurogenic ectodermal placode Ectodermal placode that does not develop into a component of the nervous system. hp.json http://purl.obolibrary.org/obo/UBERON_0011814 UBERON:0011819 biolink:AnatomicalEntity lumen of atrioventricular canal A tube lumen that is part of a atrioventricular canal. EHDAA2:0000152 hp.json AVC lumen|lumen of AVC|cavity of atrioventricular canal http://purl.obolibrary.org/obo/UBERON_0011819 UBERON:0011818 biolink:AnatomicalEntity superficial fascia Superficial fascia is found in the subcutis in most regions of the body, blending with the reticular layer of the dermis. It is present on the face, over the upper portion of the sternocleidomastoid, at the nape of the neck, and overlying the sternum. It is comprised mainly of loose areolar connective tissue and adipose and is the layer that primarily determines the shape of a body. In addition to its subcutaneous presence, this type of fascia surrounds organs and glands, neurovascular bundles, and is found at many other locations where it fills otherwise unoccupied space. It serves as a storage medium of fat and water; as a passageway for lymph, nerve and blood vessels; and as a protective padding to cushion and insulate. Superficial fascia is present, but does not contain fat, in the eyelids, ear, scrotum, penis and clitoris. GAID:929|FMA:9630|NCIT:C33660|BTO:0004525|MESH:D040521 hp.json superficial fascial layer|subcutaneous tissue|tela subcutanea http://purl.obolibrary.org/obo/UBERON_0011818 pheno_slim UBERON:0011817 biolink:AnatomicalEntity skin appendage placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). hp.json cutaneous appendage follicle placode|skin follicle placode http://purl.obolibrary.org/obo/UBERON_0011817 GO:0051321 biolink:BiologicalProcess meiotic cell cycle Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. Wikipedia:Meiosis hp.json meiosis http://purl.obolibrary.org/obo/GO_0051321 goslim_drosophila|goslim_yeast GO:0002318 biolink:BiologicalProcess myeloid progenitor cell differentiation The process in which a precursor cell type acquires the specialized features of a myeloid progenitor cell. Myeloid progenitor cells include progenitor cells for any of the myeloid lineages. hp.json http://purl.obolibrary.org/obo/GO_0002318 GO:0002319 biolink:NamedThing memory B cell differentiation hp.json http://purl.obolibrary.org/obo/GO_0002319 GO:0051336 biolink:BiologicalProcess regulation of hydrolase activity Any process that modulates the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. hp.json hydrolase regulator http://purl.obolibrary.org/obo/GO_0051336 GO:0051339 biolink:BiologicalProcess regulation of lyase activity Any process that modulates the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. hp.json lyase regulator http://purl.obolibrary.org/obo/GO_0051339 GO:0051338 biolink:BiologicalProcess regulation of transferase activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. hp.json transferase regulator http://purl.obolibrary.org/obo/GO_0051338 gocheck_do_not_manually_annotate GO:1905747 biolink:BiologicalProcess negative regulation of saliva secretion Any process that stops, prevents or reduces the frequency, rate or extent of saliva secretion. hp.json downregulation of saliva secretion|downregulation of salivation|down regulation of saliva secretion|inhibition of saliva secretion|down-regulation of saliva secretion|down regulation of salivation|inhibition of salivation|negative regulation of salivation|down-regulation of salivation http://purl.obolibrary.org/obo/GO_1905747 GO:0051346 biolink:BiologicalProcess negative regulation of hydrolase activity Any process that stops or reduces the rate of hydrolase activity, the catalysis of the hydrolysis of various bonds. hp.json down regulation of hydrolase activity|inhibition of hydrolase activity|down-regulation of hydrolase activity|hydrolase inhibitor|downregulation of hydrolase activity http://purl.obolibrary.org/obo/GO_0051346 GO:0051347 biolink:BiologicalProcess positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. hp.json up-regulation of transferase activity|activation of transferase activity|upregulation of transferase activity|up regulation of transferase activity|stimulation of transferase activity|transferase activator http://purl.obolibrary.org/obo/GO_0051347 gocheck_do_not_manually_annotate GO:0051345 biolink:BiologicalProcess positive regulation of hydrolase activity Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds. hp.json upregulation of hydrolase activity|up regulation of hydrolase activity|stimulation of hydrolase activity|up-regulation of hydrolase activity|activation of hydrolase activity|hydrolase activator http://purl.obolibrary.org/obo/GO_0051345 GO:0051348 biolink:BiologicalProcess negative regulation of transferase activity Any process that stops or reduces the rate of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. hp.json downregulation of transferase activity|down regulation of transferase activity|inhibition of transferase activity|down-regulation of transferase activity|transferase inhibitor http://purl.obolibrary.org/obo/GO_0051348 gocheck_do_not_manually_annotate GO:0051349 biolink:BiologicalProcess positive regulation of lyase activity Any process that activates or increases the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. hp.json lyase activator|upregulation of lyase activity|stimulation of lyase activity|up regulation of lyase activity|activation of lyase activity|up-regulation of lyase activity http://purl.obolibrary.org/obo/GO_0051349 GO:1905755 biolink:BiologicalProcess protein localization to cytoplasmic microtubule A process in which a protein is transported to, or maintained in, a location within a cytoplasmic microtubule. hp.json protein localisation to cytoplasmic microtubule http://purl.obolibrary.org/obo/GO_1905755 GO:0051340 biolink:BiologicalProcess regulation of ligase activity Any process that modulates the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6. hp.json ligase regulator http://purl.obolibrary.org/obo/GO_0051340 GO:0051341 biolink:BiologicalProcess regulation of oxidoreductase activity Any process that modulates the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. hp.json oxidoreductase regulator http://purl.obolibrary.org/obo/GO_0051341 HP:0011010 biolink:PhenotypicFeature Chronic Slow, creeping onset, slow progress and long continuance of disease manifestations. SNOMEDCT_US:90734009|UMLS:C0205191 hp.json Chronic http://purl.obolibrary.org/obo/HP_0011010 HP:0011011 biolink:PhenotypicFeature Subacute Somewhat rapid onset and change of disease manifestations. SNOMEDCT_US:19939008|UMLS:C0205365 hp.json http://purl.obolibrary.org/obo/HP_0011011 HP:0011012 biolink:PhenotypicFeature Abnormal circulating polysaccharide concentration A deviation from the normal concentration of a polysaccharide in the blood circulation. UMLS:C4023600 hp.json http://purl.obolibrary.org/obo/HP_0011012 HP:0011013 biolink:PhenotypicFeature Abnormal circulating carbohydrate concentration A deviation from the normal concentration of a carbohydrate in the blood circulation. UMLS:C4023599 hp.json http://purl.obolibrary.org/obo/HP_0011013 HP:0011014 biolink:PhenotypicFeature Abnormal glucose homeostasis Abnormality of glucose homeostasis. UMLS:C4023598 hp.json http://purl.obolibrary.org/obo/HP_0011014 HP:0011015 biolink:PhenotypicFeature Abnormal blood glucose concentration An abnormality of the concentration of glucose in the blood. UMLS:C4023597 hp.json Abnormality of blood glucose concentration http://purl.obolibrary.org/obo/HP_0011015 HP:0011016 biolink:PhenotypicFeature obsolete Abnormality of urine glucose concentration hp.json http://purl.obolibrary.org/obo/HP_0011016 HP:0011017 biolink:PhenotypicFeature Abnormal cellular physiology An abnormality in a cellular process. UMLS:C4023595 hp.json Abnormality of cell physiology http://purl.obolibrary.org/obo/HP_0011017 HP:0025659 biolink:PhenotypicFeature Decreased circulating creatine kinase concentration A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. hp.json http://purl.obolibrary.org/obo/HP_0025659 HP:0001684 biolink:PhenotypicFeature Secundum atrial septal defect A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. UMLS:C0344724|ICD-10:Q21.1|MSH:D006344|SNOMEDCT_US:204315000|Fyler:2000 hp.json Patent ostium secundum|Ostium secundum atrial septal defect|Atrial septal defect, ostium secundum type http://purl.obolibrary.org/obo/HP_0001684 HP:0001685 biolink:PhenotypicFeature Myocardial fibrosis Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. UMLS:C0151654 hp.json http://purl.obolibrary.org/obo/HP_0001685 HP:0025652 biolink:PhenotypicFeature Abnormal placental adhesion into the uterine wall Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta. hp.json http://purl.obolibrary.org/obo/HP_0025652 HP:0025653 biolink:PhenotypicFeature Placenta percreta Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs. hp.json Abnormal placental pentration beyond the uterine wall http://purl.obolibrary.org/obo/HP_0025653 HP:0001682 biolink:PhenotypicFeature Subvalvular aortic stenosis A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. UMLS:C0340375|MSH:D001020|SNOMEDCT_US:204368006 hp.json Subaortic stenosis|Narrowing of blood vessel below aortic heart valve http://purl.obolibrary.org/obo/HP_0001682 HP:0001683 biolink:PhenotypicFeature Ectopia cordis Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall. Fyler:0170|MSH:D054083|Fyler:170|UMLS:C0013580|SNOMEDCT_US:78250005 hp.json http://purl.obolibrary.org/obo/HP_0001683 HP:0025654 biolink:PhenotypicFeature Placenta acreta Abnormally firm adherence of the placenta to the uterine wall. hp.json http://purl.obolibrary.org/obo/HP_0025654 HP:0001688 biolink:PhenotypicFeature Sinus bradycardia Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. UMLS:C0085610|Fyler:7013|SNOMEDCT_US:49710005 hp.json http://purl.obolibrary.org/obo/HP_0001688 HP:0025655 biolink:PhenotypicFeature Placenta increta Abnormal placental pentration into but not beyond the uterine wall. hp.json http://purl.obolibrary.org/obo/HP_0025655 HP:0025656 biolink:PhenotypicFeature Prenatal double bubble sign Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign. hp.json http://purl.obolibrary.org/obo/HP_0025656 HP:0001686 biolink:PhenotypicFeature Loss of voice MSH:D001044|SNOMEDCT_US:44564008|UMLS:C0003564|SNOMEDCT_US:441913003 hp.json Aphonia http://purl.obolibrary.org/obo/HP_0001686 HP:0025657 biolink:PhenotypicFeature Abnormal umbilical blood flow measurement hp.json http://purl.obolibrary.org/obo/HP_0025657 HP:0025658 biolink:PhenotypicFeature obsolete Abnormal umbilical artery Doppler pattern in pregnancy hp.json http://purl.obolibrary.org/obo/HP_0025658 HP:0011018 biolink:PhenotypicFeature Abnormality of the cell cycle An abnormality of the cell cycle. UMLS:C4023594 hp.json Abnormality of the cell cycle http://purl.obolibrary.org/obo/HP_0011018 HP:0011019 biolink:PhenotypicFeature Abnormality of chromosome condensation An abnormality of chromosome condensation. UMLS:C4023593 hp.json http://purl.obolibrary.org/obo/HP_0011019 HP:0001680 biolink:PhenotypicFeature Coarctation of aorta Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. UMLS:C0003492|MSH:D001017|SNOMEDCT_US:7305005 hp.json Narrowing of the aorta|Narrowing of aorta|Coarctation of the aorta|Aortic coarctation http://purl.obolibrary.org/obo/HP_0001680 HP:0001681 biolink:PhenotypicFeature Angina pectoris Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. UMLS:C0002962|SNOMEDCT_US:194828000|MSH:D000787|SNOMEDCT_US:225566008 hp.json http://purl.obolibrary.org/obo/HP_0001681 HP:0025650 biolink:PhenotypicFeature Steroid-dependent nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. hp.json SDNS http://purl.obolibrary.org/obo/HP_0025650 HP:0011000 biolink:PhenotypicFeature Aplasia/Hypoplasia of the optic tract UMLS:C4023602 hp.json Absent/small optic tract|Absent/underdeveloped optic tract http://purl.obolibrary.org/obo/HP_0011000 HP:0011001 biolink:PhenotypicFeature Increased bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. MSH:D010026|SNOMEDCT_US:49347007|UMLS:C0029464 hp.json Increased bone density|Osteosclerosis|Increased bone mineral density|Osteosclerosis of bones http://purl.obolibrary.org/obo/HP_0011001 HP:0011002 biolink:PhenotypicFeature Osteopetrosis Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. MSH:D010022|SNOMEDCT_US:367489004|UMLS:C0029454|SNOMEDCT_US:1926006 hp.json Albers-Schönberg disease|Marble bone disease|Albers-Schoenberg disease|Albers-Schonberg disease|Harder, denser, fracture-prone bones http://purl.obolibrary.org/obo/HP_0011002 HP:0011003 biolink:PhenotypicFeature High myopia A severe form of myopia with greater than -6.00 diopters. SNOMEDCT_US:34187009|UMLS:C0271183 hp.json Severe near sightedness|Severe myopia|Severely close sighted|Severely near sighted|Severe myopia (> -6.00 diopters) http://purl.obolibrary.org/obo/HP_0011003 hposlim_core HP:0011004 biolink:PhenotypicFeature Abnormal systemic arterial morphology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. UMLS:C0151489|Fyler:2600|SNOMEDCT_US:234119001|UMLS:C4021205 hp.json Arterial abnormalities|Abnormal systemic artery morphology|Abnormality of the systemic arterial tree|Systemic artery abnormality http://purl.obolibrary.org/obo/HP_0011004 HP:0011005 biolink:PhenotypicFeature Mixed cirrhosis A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes. UMLS:C1392669 hp.json http://purl.obolibrary.org/obo/HP_0011005 HP:0011006 biolink:PhenotypicFeature Abnormal morphology of the musculature of the neck An abnormality of the neck musculature. UMLS:C4023601 hp.json Neck muscle issue|Abnormality of cervical musculature|Abnormality of the musculature of the neck http://purl.obolibrary.org/obo/HP_0011006 HP:0025648 biolink:PhenotypicFeature Steroid-sensitive nephrotic syndrome with infrequent relapses A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. hp.json http://purl.obolibrary.org/obo/HP_0025648 HP:0025649 biolink:PhenotypicFeature Steroid-sensitive nephrotic syndrome with frequent relapses A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. hp.json http://purl.obolibrary.org/obo/HP_0025649 HP:0025640 biolink:PhenotypicFeature Abnormal urinary mineral level An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium. hp.json http://purl.obolibrary.org/obo/HP_0025640 HP:0001695 biolink:PhenotypicFeature Cardiac arrest An abrupt loss of heart function. SNOMEDCT_US:397829000|MSH:D006323|SNOMEDCT_US:410429000|UMLS:C0018790 hp.json Heart stops beating http://purl.obolibrary.org/obo/HP_0001695 HP:0001696 biolink:PhenotypicFeature Situs inversus totalis A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs. MSH:D059446|Fyler:100|SNOMEDCT_US:27317008|UMLS:C0266642|SNOMEDCT_US:43876007|UMLS:C0037221|MSH:D012857|Fyler:0100|SNOMEDCT_US:14821001|SNOMEDCT_US:24614000 hp.json situs oppositus|situs transversus|Situs inversus|All organs on wrong side of body http://purl.obolibrary.org/obo/HP_0001696 HP:0025641 biolink:PhenotypicFeature Elevated circulating glycolate concentration An abnormally increased concentration of glycolate in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0025641 HP:0001693 biolink:PhenotypicFeature Cardiac shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. SNOMEDCT_US:442119001|UMLS:C0232180 hp.json http://purl.obolibrary.org/obo/HP_0001693 HP:0025643 biolink:PhenotypicFeature Tarlov cyst A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine. hp.json Perineural cyst http://purl.obolibrary.org/obo/HP_0025643 HP:0001694 biolink:PhenotypicFeature Right-to-left shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. SNOMEDCT_US:79692001|UMLS:C0428871 hp.json http://purl.obolibrary.org/obo/HP_0001694 HP:0001699 biolink:PhenotypicFeature Sudden death Rapid and unexpected death. UMLS:C0011071|SNOMEDCT_US:26636000|MSH:D003645 hp.json http://purl.obolibrary.org/obo/HP_0001699 HP:0025644 biolink:PhenotypicFeature Fixation-off epileptiform discharges Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG). hp.json Fixation-off sensitivity http://purl.obolibrary.org/obo/HP_0025644 HP:0001697 biolink:PhenotypicFeature Abnormal pericardium morphology An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. Fyler:1900|UMLS:C4025754 hp.json Abnormality of the pericardium http://purl.obolibrary.org/obo/HP_0001697 HP:0025646 biolink:PhenotypicFeature Bilateral polymicrogyria Polymicrogyria that affects all or some of both cerebral hemispheres. hp.json http://purl.obolibrary.org/obo/HP_0025646 HP:0001698 biolink:PhenotypicFeature Pericardial effusion Accumulation of fluid within the pericardium. MSH:D010490|Fyler:1940|SNOMEDCT_US:373945007|UMLS:C0031039 hp.json Pericardial effusions|Fluid around heart http://purl.obolibrary.org/obo/HP_0001698 HP:0025647 biolink:PhenotypicFeature Steroid-sensitive nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. hp.json SSNS http://purl.obolibrary.org/obo/HP_0025647 HP:0011008 biolink:PhenotypicFeature Temporal pattern The speed at which disease manifestations appear and develop. UMLS:C4021204 hp.json Speed of onset http://purl.obolibrary.org/obo/HP_0011008 HP:0011009 biolink:PhenotypicFeature Acute Sudden appearance of disease manifestations over a short period of time. UMLS:C0205178|SNOMEDCT_US:272118002 hp.json Acute onset http://purl.obolibrary.org/obo/HP_0011009 HP:0001691 biolink:PhenotypicFeature Muscular subvalvular aortic stenosis A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract. UMLS:C3887554 hp.json Muscular subaortic stenosis http://purl.obolibrary.org/obo/HP_0001691 HP:0001692 biolink:PhenotypicFeature Atrial arrhythmia A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. SNOMEDCT_US:17366009|UMLS:C0085611|UMLS:C4025755 hp.json Primary atrial arrhythmia http://purl.obolibrary.org/obo/HP_0001692 HP:0025637 biolink:PhenotypicFeature Vasospasm Narrowing of an artery due to constriction of the blood vessels. hp.json Vascular spasm|Angiospasm|Blood vessel spasm http://purl.obolibrary.org/obo/HP_0025637 HP:0025638 biolink:PhenotypicFeature Elevated urinary N-butyrylglycine An increased level of N-butyrylglycine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0025638 HP:0025639 biolink:PhenotypicFeature Increased urinary zinc level An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection. hp.json http://purl.obolibrary.org/obo/HP_0025639 HP:0001669 biolink:PhenotypicFeature Transposition of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. SNOMEDCT_US:204296002|SNOMEDCT_US:26146002|UMLS:C3536741 hp.json Transposition of great vessels http://purl.obolibrary.org/obo/HP_0001669 HP:0001662 biolink:PhenotypicFeature Bradycardia A slower than normal heart rate (in adults, slower than 60 beats per minute). MSH:D001919|UMLS:C0428977|SNOMEDCT_US:48867003 hp.json Slow heartbeats|Brachycardia http://purl.obolibrary.org/obo/HP_0001662 HP:0001663 biolink:PhenotypicFeature Ventricular fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. UMLS:C0042510|MSH:D014693|SNOMEDCT_US:71908006 hp.json http://purl.obolibrary.org/obo/HP_0001663 HP:0025630 biolink:PhenotypicFeature Argininosuccinic aciduria Increased amount of argininosuccinate in the urine. hp.json http://purl.obolibrary.org/obo/HP_0025630 HP:0001660 biolink:PhenotypicFeature Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. MSH:D014338|Fyler:500|SNOMEDCT_US:58140002|ICD-10:Q20.0|Fyler:0500|UMLS:C4020867|UMLS:C0041206 hp.json Common arterial trunk|Persistant truncus arteriosus http://purl.obolibrary.org/obo/HP_0001660 HP:0025631 biolink:PhenotypicFeature Alpha-aminobutyric aciduria Increased amount of alpha-aminobutyric acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0025631 HP:0025632 biolink:PhenotypicFeature Reduced reactive oxygen species production in neutrophils hp.json http://purl.obolibrary.org/obo/HP_0025632 HP:0025633 biolink:PhenotypicFeature Abnormal ureter morphology A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. hp.json http://purl.obolibrary.org/obo/HP_0025633 HP:0001667 biolink:PhenotypicFeature Right ventricular hypertrophy In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. MSH:D017380|Fyler:3609|UMLS:C0162770|SNOMEDCT_US:89792004 hp.json Heart right ventricle hypertrophy http://purl.obolibrary.org/obo/HP_0001667 HP:0025634 biolink:PhenotypicFeature Abnormal ureter physiology A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. hp.json http://purl.obolibrary.org/obo/HP_0025634 HP:0025635 biolink:PhenotypicFeature Ureteral polyp A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk. NCIT:C4530 hp.json Polyp of the ureter|Ureter polyp http://purl.obolibrary.org/obo/HP_0025635 HP:0001664 biolink:PhenotypicFeature Torsade de pointes A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. UMLS:C0040479|MSH:D016171|SNOMEDCT_US:31722008 hp.json Torsades de pointes http://purl.obolibrary.org/obo/HP_0001664 HP:0025636 biolink:PhenotypicFeature Endometritis Inflammation of the inner lining of the uterus (endometrium). hp.json Endometrial inflammation|Inflammation of the inner lining of the uterus http://purl.obolibrary.org/obo/HP_0025636 HP:0025626 biolink:PhenotypicFeature Increased circulating oleate level An abnormally high concentration of oleic acid (oleate) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0025626 HP:0025627 biolink:PhenotypicFeature Increased circulating octadecanoate level An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). hp.json http://purl.obolibrary.org/obo/HP_0025627 HP:0001679 biolink:PhenotypicFeature Abnormal aortic morphology An abnormality of the aorta. UMLS:C4025756|Fyler:1453 hp.json Abnormality of the aorta|Abnormal aorta morphology http://purl.obolibrary.org/obo/HP_0001679 HP:0025628 biolink:PhenotypicFeature Increased circulating myristoleate level An abnormally high concentration of myristoleate in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0025628 HP:0025629 biolink:PhenotypicFeature Anti-myelin-associated glycoprotein antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG). hp.json http://purl.obolibrary.org/obo/HP_0025629 HP:0001673 biolink:PhenotypicFeature obsolete Tachycardia (with pheochromocytoma) hp.json http://purl.obolibrary.org/obo/HP_0001673 HP:0001674 biolink:PhenotypicFeature Complete atrioventricular canal defect A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. Fyler:1120 hp.json Complete atrioventricular septal defect|Complete common AV canal|Common atrioventricular canal|Atrioventricular canal http://purl.obolibrary.org/obo/HP_0001674 HP:0001671 biolink:PhenotypicFeature Abnormal cardiac septum morphology An anomaly of the intra-atrial or intraventricular septum. UMLS:C0018816|MSH:D006343|SNOMEDCT_US:396351009|SNOMEDCT_US:59494005|SNOMEDCT_US:253273004 hp.json Abnormality of the cardiac septa|Septal defects|Heart septal defect http://purl.obolibrary.org/obo/HP_0001671 HP:0025620 biolink:PhenotypicFeature Abnormal proportion of CD4+ central memory cells An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. hp.json Abnormal proportion of central memory CD4+, alpha-beta T cells http://purl.obolibrary.org/obo/HP_0025620 HP:0025621 biolink:PhenotypicFeature obsolete Increased proportion of CD4+ central memory cells hp.json http://purl.obolibrary.org/obo/HP_0025621 HP:0001677 biolink:PhenotypicFeature Coronary artery atherosclerosis Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. MSH:D003324|SNOMEDCT_US:53741008|SNOMEDCT_US:414024009|UMLS:C1956346 hp.json Coronary disease|Plaque build-up in arteries supplying blood to heart|Coronary atherosclerosis http://purl.obolibrary.org/obo/HP_0001677 HP:0025622 biolink:PhenotypicFeature obsolete Decreased proportion of CD4+ central memory cells hp.json http://purl.obolibrary.org/obo/HP_0025622 HP:0025623 biolink:PhenotypicFeature Abnormal proportion of CD4+ effector memory cells An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json Abnormal proportion of CD4-positive effector memory cells|Abnormal proportion of effector memory CD4-positive, alpha-beta T cells http://purl.obolibrary.org/obo/HP_0025623 HP:0001678 biolink:PhenotypicFeature Atrioventricular block Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. UMLS:C1841659|UMLS:C0004245|MSH:D054537|SNOMEDCT_US:233917008 hp.json Interruption of electrical communication between upper and lower chambers of heart|Atrioventricular nodal disease http://purl.obolibrary.org/obo/HP_0001678 HP:0025624 biolink:PhenotypicFeature Reduced proportion of CD4+ effector memory T cells An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json Decreased proportion of CD4+ effector memory T cells|Decreased proportion of CD4-positive effector memory T cells|Decreased proportion of effector memory CD4-positive, alpha-beta T cells http://purl.obolibrary.org/obo/HP_0025624 HP:0001675 biolink:PhenotypicFeature obsolete Rhythm disturbances associated with pheochromocytoma hp.json http://purl.obolibrary.org/obo/HP_0001675 HP:0025625 biolink:PhenotypicFeature Elevated proportion of CD4+ effector memory T cells An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype. hp.json Increased proportion of effector CD4-positive, alpha-beta T cells|Increased proportion of CD4-positive effector memory T cells|Increased proportion of CD4+ effector memory T cells http://purl.obolibrary.org/obo/HP_0025625 HP:0001676 biolink:PhenotypicFeature obsolete Palpitations (with pheochromocytoma) hp.json http://purl.obolibrary.org/obo/HP_0001676 HP:0001670 biolink:PhenotypicFeature Asymmetric septal hypertrophy Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. UMLS:C0205700 hp.json http://purl.obolibrary.org/obo/HP_0001670 HP:0011054 biolink:PhenotypicFeature Agenesis of molar Agenesis of molar tooth. UMLS:C4280348|UMLS:C4021203 hp.json Absence of molar|Absent molars|Missing molar|Failure of development of molar http://purl.obolibrary.org/obo/HP_0011054 HP:0011055 biolink:PhenotypicFeature Agenesis of permanent molar Agenesis of secondary molar tooth. UMLS:C4280347|UMLS:C4023563 hp.json Agenesis of secondary molar|Failure of development of secondary molar|Absence of permanent molar|Absence of adult molar|Missing permanent molar|Failure of development of permanent molar|Missing adult molar http://purl.obolibrary.org/obo/HP_0011055 HP:0011056 biolink:PhenotypicFeature Agenesis of first permanent molar tooth Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. UMLS:C4280346|UMLS:C4023562 hp.json Absence of first permanent molar|Missing six year molar|Failure of development of first permanent molar|Missing first permanent molar|Failure of development of six year molar|Agenesis of six year molar|Absence of six year molar http://purl.obolibrary.org/obo/HP_0011056 HP:0011057 biolink:PhenotypicFeature Agenesis of second permanent molar Agenesis of either mandibular second permanent molar or maxillary second permanent molar. UMLS:C4280257|UMLS:C4023561 hp.json Absence of twelve year molar|Agenesis of twelve year molar|Absence of second permanent molar|Missing twelve year molar|Failure of development of second permanent molar|Failure of development of twelve year molar|Missing second permanent molar http://purl.obolibrary.org/obo/HP_0011057 HP:0011058 biolink:PhenotypicFeature Generalized periodontitis A generalized form of periodontitis. UMLS:C4023560|UMLS:C4280345 hp.json Generalised periodontitis|Generalised gum disease|Generalized gum disease|Widespread gum disease|Generalized periodontal disease|Generalised periodontal disease http://purl.obolibrary.org/obo/HP_0011058 HP:0011059 biolink:PhenotypicFeature Localized periodontitis A localized form of periodontitis. UMLS:C4280344|UMLS:C4023559 hp.json Limited area of gum disease|Localised gum disease|Localized gum disease|Localized periodontal disease|Localised periodontal disease|Localised periodontitis http://purl.obolibrary.org/obo/HP_0011059 HP:0410309 biolink:PhenotypicFeature Alpha-aminoadipic aciduria A increased concentration of alpha-aminoadipic acid in the urine. hp.json 2-aminoadipic aciduria http://purl.obolibrary.org/obo/HP_0410309 HP:0410308 biolink:PhenotypicFeature Decreased specific antibody response to infection A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection. hp.json http://purl.obolibrary.org/obo/HP_0410308 GO:0002384 biolink:NamedThing hepatic immune response hp.json http://purl.obolibrary.org/obo/GO_0002384 HP:0410307 biolink:PhenotypicFeature Positive stool methadone test Detection of methadone and its metabolites in the stool. hp.json http://purl.obolibrary.org/obo/HP_0410307 HP:0011050 biolink:PhenotypicFeature Agenesis of permanent maxillary lateral incisor Agenesis of one or more upper lateral secondary incisor. UMLS:C4280352|UMLS:C4023567 hp.json Absence of permanent maxillary lateral incisor|Missing permanent maxillary lateral incisor|Missing permanent upper lateral incisor|Failure of development of permanent maxillary lateral incisor|Agenesis of permanent upper lateral incisor|Failure of development of permanent upper lateral incisor http://purl.obolibrary.org/obo/HP_0011050 HP:0011051 biolink:PhenotypicFeature Agenesis of premolar Agenesis of premolar tooth. UMLS:C4280351|UMLS:C4023566 hp.json Missing premolar|Failure of development of premolar|Absence of premolar|Missing bicuspid|Absence of bicuspid|Failure of development of bicuspid|Agenesis of bicuspid http://purl.obolibrary.org/obo/HP_0011051 HP:0011052 biolink:PhenotypicFeature Agenesis of maxillary premolar Agenesis of maxillary premolar. UMLS:C4280350|UMLS:C4023565 hp.json Failure of development of maxillary bicuspid|Absence of maxillary bicuspid|Agenesis of maxillary bicuspid|Missing maxillary premolar|Missing upper premolar|Absence of maxillary premolar|Failure of development of maxillary premolar|Absence of upper premolar|Missing upper bicuspid http://purl.obolibrary.org/obo/HP_0011052 HP:0011053 biolink:PhenotypicFeature Agenesis of mandibular premolar Agenesis of mandibular premolar. UMLS:C4023564|UMLS:C4280349 hp.json Missing mandibular premolar|Failure of development of mandibular premolar|Missing lower premolar|Absence of lower premolar|Absence of mandibular premolar http://purl.obolibrary.org/obo/HP_0011053 HP:0410302 biolink:PhenotypicFeature Decreased specific antibody response to protein-conjugated polysaccharide vaccine A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410302 HP:0025695 biolink:PhenotypicFeature Mucus plug Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection. hp.json http://purl.obolibrary.org/obo/HP_0025695 HP:0410301 biolink:PhenotypicFeature Partial absence of specific antibody response to unconjugated pneumococcus vaccine A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410301 HP:0025696 biolink:PhenotypicFeature Airway casts A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts. hp.json http://purl.obolibrary.org/obo/HP_0025696 HP:0410300 biolink:PhenotypicFeature Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410300 HP:0025697 biolink:PhenotypicFeature Fibrin casts A type of airway casts that consist of plasma components and inflammatory cells. hp.json Type I airway casts|Pseudomembranes|Cellular airway casts|Diphtheroid membranes http://purl.obolibrary.org/obo/HP_0025697 HP:0025698 biolink:PhenotypicFeature Mucin casts A type of airway casts that consist of impacted mucus. hp.json Type II airway casts|Acellular airway casts http://purl.obolibrary.org/obo/HP_0025698 HP:0410306 biolink:PhenotypicFeature Partial absence of specific antibody response to meningococcus vaccine A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410306 HP:0025699 biolink:PhenotypicFeature Perisylvian FDG hypermetabolism 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure. hp.json Perisylvian hypermetabolism in FDG PET http://purl.obolibrary.org/obo/HP_0025699 HP:0410305 biolink:PhenotypicFeature Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410305 HP:0410304 biolink:PhenotypicFeature Complete or near-complete absence of specific antibody response to meningococcus vaccine The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410304 HP:0410303 biolink:PhenotypicFeature Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0410303 HP:0025690 biolink:PhenotypicFeature Fetal intra-abdominal umbilical vein varix Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age. hp.json FIUVV|Fetal umbilical vein dilatation http://purl.obolibrary.org/obo/HP_0025690 HP:0025691 biolink:PhenotypicFeature Impaired fasting glucose Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG. hp.json http://purl.obolibrary.org/obo/HP_0025691 HP:0025692 biolink:PhenotypicFeature Atelencephaly A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops). hp.json http://purl.obolibrary.org/obo/HP_0025692 HP:0025693 biolink:PhenotypicFeature Pituitary macroadenoma A pituitary gland adenoma that is larger than 10mm. hp.json Pituitary gland macroadenoma http://purl.obolibrary.org/obo/HP_0025693 HP:0025694 biolink:PhenotypicFeature Pituitary microadenoma A pituitary adenoma that is less than 10 mm in diameter. hp.json http://purl.obolibrary.org/obo/HP_0025694 HP:0011043 biolink:PhenotypicFeature Abnormal circulating adrenocorticotropin concentration An abnormal concentration of corticotropin in the blood. UMLS:C4023574 hp.json Abnormality of circulating adrenocorticotropin level|Abnormality of circulating corticotropin level|Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating ACTH level http://purl.obolibrary.org/obo/HP_0011043 HP:0011044 biolink:PhenotypicFeature Abnormal number of permanent teeth The presence of an altered number of of permanent teeth. UMLS:C4023573 hp.json Abnormal complement of permanent teeth|Abnormal permanent tooth count|Abnormal number of permanent teeth|Abnormal number of secondary dentition|Abnormal number of adult teeth http://purl.obolibrary.org/obo/HP_0011044 HP:0011045 biolink:PhenotypicFeature Agenesis of permanent maxillary central incisor Agenesis of upper secondary incisor. UMLS:C4023572|UMLS:C4280359|UMLS:C4280358 hp.json Missing permanent maxillary central incisor|Missing permanent upper central incisor|Failure of development of permanent maxillary central incisor|Missing permanent upper front tooth|Agenesis of adult maxillary central incisor|Missing adult upper central incisor|Absence of permanent maxillary central incisor|Absence of permanent upper central incisor|Absence of permanent upper front tooth http://purl.obolibrary.org/obo/HP_0011045 HP:0011046 biolink:PhenotypicFeature Agenesis of primary maxillary central incisor Agenesis of upper central primary incisor. UMLS:C4023571|UMLS:C4280357 hp.json Absence of upper front baby tooth|Absence of deciduous maxillary central incisor|Missing upper front milk tooth|Absence of primary maxillary central incisor|Missing deciduous maxillary central incisor|Agenesis of deciduous maxillary central incisor|Failure of development of deciduous maxillary central incisor|Missing primary maxillary central incisor|Missing upper front baby tooth|Failure of development of primary maxillary central incisor http://purl.obolibrary.org/obo/HP_0011046 HP:0011047 biolink:PhenotypicFeature Agenesis of primary mandibular central incisor Agenesis of lower primary incisor. UMLS:C4023570|UMLS:C4280356|UMLS:C4280355 hp.json Agenesis of primary lower central incisor|Missing primary mandibular central incisor|Missing lower front milk tooth|Missing deciduous mandibular central incisor|Absence of primary mandibular central incisor|Failure of development of primary mandibular central incisor|Absence of deciduous mandibular central incisor|Missing lower central incisor milk tooth|Failure of development of deciduous mandibular central incisor|Missing lower front baby tooth|Agenesis of deciduous lower central incisor|Missing lower front primary tooth http://purl.obolibrary.org/obo/HP_0011047 HP:0011048 biolink:PhenotypicFeature Agenesis of permanent mandibular central incisor Agenesis of lower secondary incisor. UMLS:C4280354|UMLS:C4023569 hp.json Absence of permanent lower central incisor|Absence of permanent lower front tooth|Missing permanent mandibular central incisor|Agenesis of adult mandibular central incisor|Missing permanent lower central incisor|Missing permanent lower front tooth|Failure of development of permanent mandibular central incisor|Absence of permanent mandibular central incisor|Missing adult lower central incisor http://purl.obolibrary.org/obo/HP_0011048 HP:0011049 biolink:PhenotypicFeature Agenesis of primary maxillary lateral incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor. UMLS:C4280353|UMLS:C4023568 hp.json Absence of deciduous maxillary lateral incisor|Absence of primary maxillary lateral incisor|Missing deciduous maxillary lateral incisor|Agenesis of deciduous maxillary lateral incisor|Failure of development of deciduous maxillary lateral incisor|Missing primary maxillary lateral incisor|Failure of development of primary maxillary lateral incisor http://purl.obolibrary.org/obo/HP_0011049 GO:0002399 biolink:BiologicalProcess MHC class II protein complex assembly The aggregation, arrangement and bonding together of a set of components to form an MHC class II protein complex. hp.json http://purl.obolibrary.org/obo/GO_0002399 GO:0002396 biolink:BiologicalProcess MHC protein complex assembly The aggregation, arrangement and bonding together of a set of components to form an MHC protein complex. hp.json http://purl.obolibrary.org/obo/GO_0002396 HP:0011040 biolink:PhenotypicFeature Abnormal intrahepatic bile duct morphology An abnormality of the intrahepatic bile duct. UMLS:C4023577 hp.json Abnormality of the intrahepatic bile duct http://purl.obolibrary.org/obo/HP_0011040 HP:0011041 biolink:PhenotypicFeature Aplasia/Hypoplasia of the cervical spine Aplasia or developmental hypoplasia of the cervical vertebral column. UMLS:C4023576 hp.json Absent/small cervical spine|Absent/underdeveloped cervical spine http://purl.obolibrary.org/obo/HP_0011041 HP:0011042 biolink:PhenotypicFeature Abnormal blood potassium concentration An abnormal concentration of potassium. UMLS:C4023575 hp.json Abnormal blood K concentration|Abnormality of potassium homeostasis http://purl.obolibrary.org/obo/HP_0011042 HP:0025684 biolink:PhenotypicFeature Decreased amyloid beta 42 peptide CSF concentration A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). hp.json http://purl.obolibrary.org/obo/HP_0025684 HP:0025685 biolink:PhenotypicFeature Increased amyloid beta 42 peptide CSF concentration An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). hp.json http://purl.obolibrary.org/obo/HP_0025685 HP:0025686 biolink:PhenotypicFeature Abnormal amyloid beta 40 peptide CSF concentration Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form. hp.json Abnormal Abeta 40 level|Abnormal beta amyloid 40 level http://purl.obolibrary.org/obo/HP_0025686 HP:0025687 biolink:PhenotypicFeature Increased amyloid beta 40 peptide CSF concentration An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF). hp.json http://purl.obolibrary.org/obo/HP_0025687 HP:0025688 biolink:PhenotypicFeature Abnormal amyloid beta peptide CSF concentration Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid. hp.json http://purl.obolibrary.org/obo/HP_0025688 HP:0025689 biolink:PhenotypicFeature Extra-abdominal umbilical vein varix Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth. hp.json http://purl.obolibrary.org/obo/HP_0025689 HP:0025680 biolink:PhenotypicFeature Compound muscle action potential amplitude facilitation Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction. hp.json CMAP facilitation http://purl.obolibrary.org/obo/HP_0025680 HP:0025681 biolink:PhenotypicFeature Distal clavicular thinning Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region. hp.json http://purl.obolibrary.org/obo/HP_0025681 HP:0025682 biolink:PhenotypicFeature Crouch gait A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase. hp.json http://purl.obolibrary.org/obo/HP_0025682 HP:0025683 biolink:PhenotypicFeature Abnormal amyloid beta 42 peptide CSF concentration Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form. hp.json http://purl.obolibrary.org/obo/HP_0025683 HP:0011032 biolink:PhenotypicFeature Abnormality of fluid regulation An abnormality of the regulation of body fluids. SNOMEDCT_US:1860003|UMLS:C2364164|SNOMEDCT_US:190902006 hp.json Fluid imbalance|Abnormality of fluid regulation http://purl.obolibrary.org/obo/HP_0011032 HP:0011033 biolink:PhenotypicFeature Impairment of fructose metabolism An impairment of a fructose metabolic process. UMLS:C4023581 hp.json http://purl.obolibrary.org/obo/HP_0011033 GO:0002369 biolink:BiologicalProcess T cell cytokine production Any process that contributes to cytokine production by a T cell. hp.json T-cell cytokine production|T lymphocyte cytokine production|T-lymphocyte cytokine production http://purl.obolibrary.org/obo/GO_0002369 gocheck_do_not_annotate HP:0011034 biolink:PhenotypicFeature Amyloidosis The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. SNOMEDCT_US:17602002|UMLS:C0002726|MSH:D000686 hp.json Amyloid disease http://purl.obolibrary.org/obo/HP_0011034 HP:0011035 biolink:PhenotypicFeature Abnormal renal cortex morphology An abnormality of the cortex of the kidney. UMLS:C4023580 hp.json Abnormality of renal cortex morphology http://purl.obolibrary.org/obo/HP_0011035 HP:0011036 biolink:PhenotypicFeature Abnormality of renal excretion An altered ability of the kidneys to void urine and/or specific substances. MP:0005555|UMLS:C4023579 hp.json http://purl.obolibrary.org/obo/HP_0011036 HP:0011037 biolink:PhenotypicFeature Decreased urine output A decreased rate of urine production. UMLS:C3887784 hp.json http://purl.obolibrary.org/obo/HP_0011037 HP:0011038 biolink:PhenotypicFeature Abnormal renal tubular resorption An abnormality of renal absorption. UMLS:C4023578 hp.json Abnormality of renal resorption|Abnormal renal resorption http://purl.obolibrary.org/obo/HP_0011038 GO:0002366 biolink:BiologicalProcess leukocyte activation involved in immune response A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. hp.json immune cell activation during immune response|leucocyte activation during immune response|leukocyte activation during immune response http://purl.obolibrary.org/obo/GO_0002366 GO:0002367 biolink:BiologicalProcess cytokine production involved in immune response The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels. hp.json cytokine biosynthetic process involved in immune response|cytokine secretion involved in immune response|cytokine secretion during immune response|cytokine production during immune response http://purl.obolibrary.org/obo/GO_0002367 gocheck_do_not_annotate HP:0011039 biolink:PhenotypicFeature Abnormal helix morphology An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. UMLS:C1856660 hp.json Abnormality of the helix|Abnormal helices|Helix abnormal http://purl.obolibrary.org/obo/HP_0011039 hposlim_core HP:0410329 biolink:PhenotypicFeature Gluten allergy Hypersensitivity in form of an adverse immune reaction against gluten. hp.json IgE-mediated gluten allergy|Immunoglobulin E-mediated gluten allergy|Gluten allergy|Allergy to gluten http://purl.obolibrary.org/obo/HP_0410329 HP:0011030 biolink:PhenotypicFeature Abnormal blood transition element cation concentration An abnormality of the homeostasis (concentration) of transition element cation. UMLS:C4023584 hp.json Abnormality of transition element cation homeostasis http://purl.obolibrary.org/obo/HP_0011030 HP:0011031 biolink:PhenotypicFeature Abnormality of iron homeostasis An abnormality of the homeostasis (concentration) of iron cation. UMLS:C4023583 hp.json http://purl.obolibrary.org/obo/HP_0011031 HP:0410324 biolink:PhenotypicFeature Dust mite allergy Hypersensitivity in form of an adverse immune reaction against dust mites. hp.json Dust mite allergy|Immunoglobulin E-mediated dust mite allergy|IgE-mediated dust mite allergy|Allergy to dust mites http://purl.obolibrary.org/obo/HP_0410324 HP:0025673 biolink:PhenotypicFeature Loculated ascites A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection. hp.json Septated ascites http://purl.obolibrary.org/obo/HP_0025673 HP:0025674 biolink:PhenotypicFeature Meconium pseudocyst A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst. hp.json http://purl.obolibrary.org/obo/HP_0025674 HP:0410323 biolink:PhenotypicFeature Drug allergy Hypersensitivity in form of an adverse immune reaction against drugs. hp.json Drug allergy|Allergy to drugs|IgE-mediated drug allergy|Immunoglobulin E-mediated drug allergy http://purl.obolibrary.org/obo/HP_0410323 HP:0025675 biolink:PhenotypicFeature Premature closure of the ductus arteriosus A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery). hp.json PCDA|Fetal PAD narrowing-closure|Idiopathic constriction of the fetal ductus arteriosus|Fetal arterial duct narrowing-closure|Fetal PDA narrowing-closure|Fetal ductus arteriosus narrowing-closure http://purl.obolibrary.org/obo/HP_0025675 HP:0410322 biolink:PhenotypicFeature Bacteria allergy Hypersensitivity in form of an adverse immune reaction against bacteria. hp.json IgE-mediated bacteria allergy|Immunoglobulin E-mediated bacteria allergy|Bacteria allergy|Allergy to bacteria http://purl.obolibrary.org/obo/HP_0410322 HP:0025676 biolink:PhenotypicFeature Fetal pleural effusion Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. hp.json http://purl.obolibrary.org/obo/HP_0025676 HP:0410321 biolink:PhenotypicFeature Animal dander allergy Hypersensitivity in form of an adverse immune reaction against animal dander. hp.json Allergy to animal dander|Immunoglobulin E-mediated animal dander allergy|Animal dander allergy|IgE-mediated animal dander allergy http://purl.obolibrary.org/obo/HP_0410321 HP:0025677 biolink:PhenotypicFeature Fetal chylothorax The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus. hp.json http://purl.obolibrary.org/obo/HP_0025677 HP:0410328 biolink:PhenotypicFeature Egg allergy Hypersensitivity in form of an adverse immune reaction against eggs. hp.json Egg allergy|Immunoglobulin E-mediated egg allergy|IgE-mediated egg allergy|Allergy to eggs http://purl.obolibrary.org/obo/HP_0410328 HP:0410327 biolink:PhenotypicFeature Dairy allergy Hypersensitivity in form of an adverse immune reaction against dairy. hp.json Dairy allergy|Immunoglobulin E-mediated dairy allergy|IgE-mediated dairy allergy|Allergy to dairy http://purl.obolibrary.org/obo/HP_0410327 HP:0025678 biolink:PhenotypicFeature Fetal hydrothorax Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed. hp.json http://purl.obolibrary.org/obo/HP_0025678 HP:0025679 biolink:PhenotypicFeature Diskitis Inflammation of an intervertebral disc or disk space. hp.json Discitis http://purl.obolibrary.org/obo/HP_0025679 HP:0410326 biolink:PhenotypicFeature Feather allergy Hypersensitivity in form of an adverse immune reaction against feathers. hp.json Feather allergy|Immunoglobulin E-mediated feather allergy|IgE-mediated feather allergy|Allergy to feathers http://purl.obolibrary.org/obo/HP_0410326 HP:0410325 biolink:PhenotypicFeature House dust mite allergy Hypersensitivity in form of an adverse immune reaction against house dust mites. hp.json House dust mite allergy|Immunoglobulin E-mediated house dust mite allergy|IgE-mediated house dust mite allergy|Allergy to house dust mites http://purl.obolibrary.org/obo/HP_0410325 HP:0410320 biolink:PhenotypicFeature Animal protein allergy Hypersensitivity in form of an adverse immune reaction against animal proteins. hp.json Animal protein allergy|Allergy to animal proteins|IgE-mediated animal protein allergy|Immunoglobulin E-mediated animal protein allergy http://purl.obolibrary.org/obo/HP_0410320 HP:0025670 biolink:PhenotypicFeature Syntelencephaly Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions. hp.json http://purl.obolibrary.org/obo/HP_0025670 HP:0025671 biolink:PhenotypicFeature Fetal pericardial effusion An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms. hp.json http://purl.obolibrary.org/obo/HP_0025671 HP:0025672 biolink:PhenotypicFeature Fetal skin edema A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue. hp.json http://purl.obolibrary.org/obo/HP_0025672 HP:0011021 biolink:PhenotypicFeature Abnormality of circulating enzyme level UMLS:C4023591 hp.json http://purl.obolibrary.org/obo/HP_0011021 HP:0011022 biolink:PhenotypicFeature Abnormal circulating unsaturated fatty acid concentration A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation. UMLS:C4023590 hp.json http://purl.obolibrary.org/obo/HP_0011022 HP:0011023 biolink:PhenotypicFeature Abnormal circulating prostaglandin circulation Any deviation from the normal concentration of a prostaglandin in the blood circulation. UMLS:C4023589 hp.json http://purl.obolibrary.org/obo/HP_0011023 HP:0011024 biolink:PhenotypicFeature Abnormality of the gastrointestinal tract An abnormality of the gastrointestinal tract. SNOMEDCT_US:25374005|SNOMEDCT_US:119292006|MSH:D004066|UMLS:C0012242|SNOMEDCT_US:53619000|UMLS:C0017178|UMLS:C4023588|MSH:D005767 hp.json Abnormality of the GI tract|Gastrointestinal disease|Digestive system disease|Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0011024 HP:0011025 biolink:PhenotypicFeature Abnormal cardiovascular system physiology Abnormal functionality of the cardiovascular system. UMLS:C4023587 hp.json Abnormality of cardiovascular system physiology http://purl.obolibrary.org/obo/HP_0011025 GO:0002376 biolink:BiologicalProcess immune system process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. Wikipedia:Immune_system hp.json http://purl.obolibrary.org/obo/GO_0002376 goslim_flybase_ribbon|goslim_chembl|goslim_mouse|goslim_agr|goslim_generic|goslim_pir HP:0011026 biolink:PhenotypicFeature Aplasia/Hypoplasia of the vagina Aplasia or developmental hypoplasia of the vagina. UMLS:C4023586 hp.json Absent/underdeveloped vagina|Absent/small vagina http://purl.obolibrary.org/obo/HP_0011026 HP:0011027 biolink:PhenotypicFeature Abnormal fallopian tube morphology An abnormality of the fallopian tube. UMLS:C0281842 hp.json Abnormality of the fallopian tube http://purl.obolibrary.org/obo/HP_0011027 HP:0011028 biolink:PhenotypicFeature Abnormality of blood circulation An abnormality of blood circulation. UMLS:C4020760|UMLS:C4023585 hp.json Blood circulation disorder http://purl.obolibrary.org/obo/HP_0011028 GO:0002371 biolink:BiologicalProcess dendritic cell cytokine production Any process that contributes to cytokine production by a dendritic cell. hp.json http://purl.obolibrary.org/obo/GO_0002371 gocheck_do_not_annotate GO:0002372 biolink:BiologicalProcess myeloid dendritic cell cytokine production Any process that contributes to cytokine production by a myeloid dendritic cell. hp.json http://purl.obolibrary.org/obo/GO_0002372 gocheck_do_not_annotate HP:0410319 biolink:PhenotypicFeature Alpha-gal allergy Hypersensitivity in form of an adverse immune reaction against alpha-gal. hp.json Allergy to alpha-gal|Immunoglobulin E-mediated alpha-gal allergy|Alpha-gal allergy|IgE-mediated alpha-gal allergy http://purl.obolibrary.org/obo/HP_0410319 HP:0410318 biolink:PhenotypicFeature Decreased urinary 3-methylhistidine Decreased concentration of 3-methylhistidine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410318 HP:0011020 biolink:PhenotypicFeature Abnormality of mucopolysaccharide metabolism An abnormality of the metabolism of mucopolysaccharide. UMLS:C4023592 hp.json http://purl.obolibrary.org/obo/HP_0011020 HP:0025662 biolink:PhenotypicFeature Abnormal fetal skeletal morphology An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes. hp.json http://purl.obolibrary.org/obo/HP_0025662 HP:0410313 biolink:PhenotypicFeature Abnormal urinary 1-methylhistidine concentration Abnormal concentration of 1-methylhistidine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410313 HP:0410312 biolink:PhenotypicFeature Hypersegmentation of neutrophil nuclei in CSF An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid. hp.json Hypersegmentation of neutrophil nuclei in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0410312 HP:0025663 biolink:PhenotypicFeature Reduced fetal femur/foot length ratio This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors. hp.json http://purl.obolibrary.org/obo/HP_0025663 HP:0410311 biolink:PhenotypicFeature Hyposegmentation of neutrophil nuclei in CSF Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid. hp.json Hyposegmentation of neutrophil nuclei in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0410311 HP:0025664 biolink:PhenotypicFeature Moderate to late preterm birth Birth at 32 to 36 completed weeks of gestation. hp.json http://purl.obolibrary.org/obo/HP_0025664 HP:0410310 biolink:PhenotypicFeature Abnormality of neutrophil morphology in CSF An abnormal form or size of neutrophils in the cerebrospinal fluid. hp.json Abnormality of neutrophil morphology in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0410310 HP:0025665 biolink:PhenotypicFeature Extremely preterm birth Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation). hp.json http://purl.obolibrary.org/obo/HP_0025665 HP:0025666 biolink:PhenotypicFeature Very preterm birth Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks). hp.json http://purl.obolibrary.org/obo/HP_0025666 HP:0410317 biolink:PhenotypicFeature Increased urinary 3-methylhistidine Increased concentration of 3-methylhistidine in the urine. hp.json 3-Methylhistidinuria http://purl.obolibrary.org/obo/HP_0410317 HP:0025667 biolink:PhenotypicFeature Fetal neck anomaly A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. hp.json http://purl.obolibrary.org/obo/HP_0025667 HP:0410316 biolink:PhenotypicFeature Abnormal urinary 3-methylhistidine level Abnormal amount of 3-methylhistidine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410316 HP:0025668 biolink:PhenotypicFeature Abnormal neck morphology Any structural anomaly of the neck region. hp.json http://purl.obolibrary.org/obo/HP_0025668 HP:0410315 biolink:PhenotypicFeature Increased urinary 1-methylhistidine Increased concentration of 1-methylhistidine in the urine. hp.json 1-Methylhistidinuria http://purl.obolibrary.org/obo/HP_0410315 HP:0410314 biolink:PhenotypicFeature Decreased urinary 1-methylhistidine Decreased concentration of 1-methylhistidine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410314 HP:0025669 biolink:PhenotypicFeature Abnormal neck physiology Any functional anomaly of the neck region. hp.json http://purl.obolibrary.org/obo/HP_0025669 HP:0011029 biolink:PhenotypicFeature Internal hemorrhage The presence of hemorrhage within the body. UMLS:C1390214 hp.json Internal haemorrhage|Internal bleeding http://purl.obolibrary.org/obo/HP_0011029 HP:0025660 biolink:PhenotypicFeature Chiari type II malformation A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele. hp.json Arnold-Chiari type II malformation http://purl.obolibrary.org/obo/HP_0025660 HP:0025661 biolink:PhenotypicFeature Chiari type III malformation A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele. hp.json Arnold-Chiari type III malformation http://purl.obolibrary.org/obo/HP_0025661 HP:0001847 biolink:PhenotypicFeature Long hallux Increased length of the big toe. UMLS:C1864375 hp.json Long big toe|Large halluces|Long halluces|Increased length of the hallux http://purl.obolibrary.org/obo/HP_0001847 hposlim_core HP:0001844 biolink:PhenotypicFeature Abnormality of the hallux This term applies for all abnormalities of the big toe, also called hallux. UMLS:C4021773 hp.json Abnormalities of the hallux|Abnormality of the big toe http://purl.obolibrary.org/obo/HP_0001844 hposlim_core HP:0001845 biolink:PhenotypicFeature Overlapping toe Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. SNOMEDCT_US:203541003|UMLS:C0920299 hp.json Overlapping toes|Crossover toe|Overlapping toe|Overriding toes http://purl.obolibrary.org/obo/HP_0001845 hposlim_core HP:0001848 biolink:PhenotypicFeature Calcaneovalgus deformity This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). UMLS:C1860450 hp.json Calcaneovalgus|Calcaneovalgus Foot|Foot and ankle bend up toward shin of leg|Valgus position of the calcaneus http://purl.obolibrary.org/obo/HP_0001848 HP:0001849 biolink:PhenotypicFeature Foot oligodactyly A developmental defect resulting in the presence of fewer than the normal number of toes. SNOMEDCT_US:249820005|UMLS:C0426934 hp.json Oligodactyly of feet|Missing toes http://purl.obolibrary.org/obo/HP_0001849 hposlim_core GO:1903078 biolink:BiologicalProcess positive regulation of protein localization to plasma membrane Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. hp.json positive regulation of protein localisation in plasma membrane|activation of protein localisation in plasma membrane|activation of protein-plasma membrane targeting|up regulation of protein localization to plasma membrane|up-regulation of protein-plasma membrane targeting|activation of protein targeting to plasma membrane|positive regulation of protein targeting to plasma membrane|activation of protein localization to plasma membrane|up-regulation of protein localization in plasma membrane|up regulation of protein-plasma membrane targeting|up regulation of protein targeting to plasma membrane|upregulation of protein localisation in plasma membrane|positive regulation of establishment of protein localization to plasma membrane|positive regulation of establishment of protein localisation in plasma membrane|positive regulation of protein-plasma membrane targeting|up-regulation of protein targeting to plasma membrane|upregulation of protein localization to plasma membrane|up regulation of protein localization in plasma membrane|activation of protein localization in plasma membrane|positive regulation of protein localization in plasma membrane|upregulation of protein-plasma membrane targeting|up-regulation of protein localisation in plasma membrane|upregulation of protein localization in plasma membrane|upregulation of protein targeting to plasma membrane|up-regulation of protein localization to plasma membrane|up regulation of protein localisation in plasma membrane http://purl.obolibrary.org/obo/GO_1903078 GO:1903077 biolink:BiologicalProcess negative regulation of protein localization to plasma membrane Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to plasma membrane. hp.json negative regulation of establishment of protein localization to plasma membrane|down regulation of protein localization in plasma membrane|downregulation of protein-plasma membrane targeting|negative regulation of establishment of protein localisation in plasma membrane|inhibition of protein localization in plasma membrane|downregulation of protein localization in plasma membrane|down-regulation of protein localisation in plasma membrane|negative regulation of establishment of protein localization in plasma membrane|down-regulation of protein localization to plasma membrane|inhibition of protein targeting to plasma membrane|down regulation of protein localisation in plasma membrane|downregulation of protein targeting to plasma membrane|negative regulation of protein localisation in plasma membrane|negative regulation of protein-plasma membrane targeting|down-regulation of protein-plasma membrane targeting|inhibition of protein localisation in plasma membrane|down regulation of protein localization to plasma membrane|downregulation of protein localisation in plasma membrane|inhibition of protein-plasma membrane targeting|down regulation of protein targeting to plasma membrane|down-regulation of protein localization in plasma membrane|inhibition of protein localization to plasma membrane|negative regulation of protein localization in plasma membrane|down regulation of protein-plasma membrane targeting|negative regulation of protein targeting to plasma membrane|down-regulation of protein targeting to plasma membrane|downregulation of protein localization to plasma membrane http://purl.obolibrary.org/obo/GO_1903077 GO:1903076 biolink:BiologicalProcess regulation of protein localization to plasma membrane Any process that modulates the frequency, rate or extent of protein localization to plasma membrane. hp.json regulation of establishment of protein localization in plasma membrane|regulation of protein localization in plasma membrane|regulation of protein targeting to plasma membrane|regulation of establishment of protein localization to plasma membrane|regulation of establishment of protein localisation in plasma membrane|regulation of protein localisation in plasma membrane|regulation of protein-plasma membrane targeting http://purl.obolibrary.org/obo/GO_1903076 HP:0001842 biolink:PhenotypicFeature Foot acroosteolysis UMLS:C4025744 hp.json Acroosteolysis of feet http://purl.obolibrary.org/obo/HP_0001842 HP:0001840 biolink:PhenotypicFeature Metatarsus adductus The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. MSH:D000070592|UMLS:C0231791|SNOMEDCT_US:77599005|UMLS:C4082169 hp.json Intoe|Forefoot varus|Front half of foot turns inward|Metatarsus varus|Metatarsus adductovarsus http://purl.obolibrary.org/obo/HP_0001840 hposlim_core HP:0001841 biolink:PhenotypicFeature Preaxial foot polydactyly Duplication of all or part of the first ray. UMLS:C2112942|MSH:C566632|UMLS:C1866339 hp.json Preaxial polydactyly of the feet|Preaxial polydactyly of foot|Preaxial polydactyly of feet|Partial/complete duplication of the phalanges of the big toe|Preaxial polydactyly, feet|Preaxial hallucal polydactyly|Polydactyly affecting the hallux http://purl.obolibrary.org/obo/HP_0001841 GO:0110148 biolink:BiologicalProcess biomineralization The process where mineral crystals are formed and deposited in an organized fashion in a matrix (either cellular or extracellular) by living organisms. This gives rise to inorganic compound-based structures such as skeleton, teeth, ivory, shells, cuticle, and corals as well as bacterial biomineralization products. Wikipedia:Biomineralization hp.json mineralization|biomineralisation|biomineral formation|mineralisation http://purl.obolibrary.org/obo/GO_0110148 GO:0110149 biolink:BiologicalProcess regulation of biomineralization Any process that modulates the frequency, rate or extent of biomineralization, the formation and deposition of mineral crystals by living organisms. hp.json regulation of mineralization|regulation of biomineral formation|regulation of biomineralisation|regulation of mineralisation http://purl.obolibrary.org/obo/GO_0110149 HP:0001857 biolink:PhenotypicFeature Short distal phalanx of toe Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. UMLS:C4021771 hp.json Short outermost bone of toe|Hypoplastic distal phalanges of feet http://purl.obolibrary.org/obo/HP_0001857 HP:0001859 biolink:PhenotypicFeature Distal foot symphalangism UMLS:C4025743 hp.json http://purl.obolibrary.org/obo/HP_0001859 HP:0001850 biolink:PhenotypicFeature Abnormality of the tarsal bones An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. UMLS:C1862136 hp.json Abnormal ankle bones|Abnormal tarsals http://purl.obolibrary.org/obo/HP_0001850 HP:0001853 biolink:PhenotypicFeature Bifid distal phalanx of toe UMLS:C4021772 hp.json Bifid distal phalanges of toes|Notched outermost bones of toes|Bifid terminal phalanx of toe http://purl.obolibrary.org/obo/HP_0001853 HP:0001854 biolink:PhenotypicFeature Podagra Gout affecting the Metatarsophalangeal joint of big toe. SNOMEDCT_US:67148009|UMLS:C0221168 hp.json Gout of big toe http://purl.obolibrary.org/obo/HP_0001854 HP:0001852 biolink:PhenotypicFeature Sandal gap A widely spaced gap between the first toe (the great toe) and the second toe. UMLS:C1840069 hp.json Wide space between 1st, 2nd toes|Wide-spaced big toe|Widened gap first and second toe|Widely spaced 1st-2nd toes|Wide space between first and second toes|Increased space between first and second toes|Widened gap 1st-2nd toes|Space between great toe and second toe|Gap between 1st and 2nd toes|Widely spaced first and second toes|Gap between first and second toe|Sandal gap between first and second toes http://purl.obolibrary.org/obo/HP_0001852 hposlim_core UBERON:0008281 biolink:AnatomicalEntity tooth bud A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. MESH:D014083|BTO:0001838|FMA:306006|NCIT:C34313|UMLS:C0040442 hp.json tooth germ|dental bud|dental germ http://purl.obolibrary.org/obo/UBERON_0008281 HP:0001824 biolink:PhenotypicFeature Weight loss Reduction of total body weight. SNOMEDCT_US:161832001|UMLS:C1262477|SNOMEDCT_US:89362005|SNOMEDCT_US:262285001|MSH:D015431 hp.json Loss of weight http://purl.obolibrary.org/obo/HP_0001824 GO:0110151 biolink:BiologicalProcess positive regulation of biomineralization Any process that activates or increases the frequency, rate or extent of biomineralization, the formation and deposition of mineral crystals by living organisms. hp.json positive regulation of mineralization|positive regulation of biomineral formation|positive regulation of biomineralisation|positive regulation of mineralisation http://purl.obolibrary.org/obo/GO_0110151 HP:0001822 biolink:PhenotypicFeature Hallux valgus Lateral deviation of the great toe (i.e., in the direction of the little toe). UMLS:C0006386|MSH:D000071378|MSH:D006215|SNOMEDCT_US:415692008|UMLS:C0018536|SNOMEDCT_US:122480009 hp.json Lateral deviation of halluces|Lateral deviation of great toe|Bunion http://purl.obolibrary.org/obo/HP_0001822 GO:0110150 biolink:BiologicalProcess negative regulation of biomineralization Any process that stops, prevents, or reduces the frequency, rate or extent of biomineralization, the formation and deposition of mineral crystals by living organisms. hp.json negative regulation of biomineral formation|negative regulation of mineralisation|negative regulation of biomineralisation|negative regulation of mineralization http://purl.obolibrary.org/obo/GO_0110150 HP:0001829 biolink:PhenotypicFeature Foot polydactyly A kind of polydactyly characterized by the presence of a supernumerary toe or toes. SNOMEDCT_US:62218008|UMLS:C0158734 hp.json Polydactyly of feet|Polydactyly of the foot|Duplication of bones of the toes http://purl.obolibrary.org/obo/HP_0001829 hposlim_core HP:0001827 biolink:PhenotypicFeature Genital tract atresia Congenital occlusion of a tube in the genital tract. UMLS:C4025746 hp.json http://purl.obolibrary.org/obo/HP_0001827 HP:0001820 biolink:PhenotypicFeature Leukonychia White discoloration of the nails. SNOMEDCT_US:111202002|UMLS:C0240182|MEDDRA:10050658 hp.json White discoloration of nails http://purl.obolibrary.org/obo/HP_0001820 HP:0001821 biolink:PhenotypicFeature Broad nail Increased width of nail. UMLS:C1843112 hp.json Wide fingernails|Broad fingernails|Broad nail http://purl.obolibrary.org/obo/HP_0001821 GO:0110165 biolink:CellularComponent cellular anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. hp.json http://purl.obolibrary.org/obo/GO_0110165 HP:0001836 biolink:PhenotypicFeature Camptodactyly of toe Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. UMLS:C4021774 hp.json Camptodactyly of feet http://purl.obolibrary.org/obo/HP_0001836 HP:0001833 biolink:PhenotypicFeature Long foot Increased back to front length of the foot. SNOMEDCT_US:299462005|UMLS:C0576225 hp.json Disproportionately large feet|large feet|Long foot|long feet http://purl.obolibrary.org/obo/HP_0001833 hposlim_core HP:0001839 biolink:PhenotypicFeature Split foot A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. SNOMEDCT_US:205358006|UMLS:C0432028 hp.json Lobster-claw foot deformity|Split foot|Split-foot|Foot ectrodactyly http://purl.obolibrary.org/obo/HP_0001839 hposlim_core HP:0001837 biolink:PhenotypicFeature Broad toe Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. UMLS:C1865038 hp.json Broad toe|Wide toe http://purl.obolibrary.org/obo/HP_0001837 hposlim_core HP:0001838 biolink:PhenotypicFeature Rocker bottom foot The presence of both a prominent heel and a convex contour of the sole. UMLS:C0240912|SNOMEDCT_US:205082007|MSH:D005413|SNOMEDCT_US:205359003|MEDDRA:10066242|MSH:C536345 hp.json Congenital vertical talus|Rocker-bottom feet|Rocker bottom feet|Rocker bottom foot|Rockerbottom feet http://purl.obolibrary.org/obo/HP_0001838 hposlim_core HP:0001831 biolink:PhenotypicFeature Short toe A toe that appears disproportionately short compared to the foot. UMLS:C1836195 hp.json Stubby toes|Short toe|Hypoplasia of the toe|Brachydactyly of the foot|Hypoplastic toes|Short foot phalanges|Short toes http://purl.obolibrary.org/obo/HP_0001831 hposlim_core HP:0001832 biolink:PhenotypicFeature Abnormal metatarsal morphology Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). UMLS:C4025745 hp.json Abnormality of the long bone of foot http://purl.obolibrary.org/obo/HP_0001832 HP:0001830 biolink:PhenotypicFeature Postaxial foot polydactyly Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. UMLS:C2112129|UMLS:C4020865 hp.json Posterior polydactyly of foot|Postaxial polydactyly of foot|Postaxial polydactyly of feet|Fibular polydactyly|Polydactyly affecting the 5th toe|Extra toe attached near the little toe http://purl.obolibrary.org/obo/HP_0001830 HP:0011210 biolink:PhenotypicFeature EEG with occipital slowing Slowing in occipital areas of the scalp EEG. UMLS:C4023465 hp.json http://purl.obolibrary.org/obo/HP_0011210 HP:0011211 biolink:PhenotypicFeature EEG with photoparoxysmal response grade I Occurrence of epileptiform discharges in occipital regions during photic stimulation. UMLS:C4023464 hp.json http://purl.obolibrary.org/obo/HP_0011211 PR:000003809 biolink:Protein alpha-fetoprotein A protein that is a translation product of the human AFP gene or a 1:1 ortholog thereof. hp.json alpha-1-fetoprotein|alpha-fetoglobulin|AFP|HPAFP http://purl.obolibrary.org/obo/PR_000003809 HP:0011212 biolink:PhenotypicFeature EEG with photoparoxysmal response grade II Occurence of epileptiform discharges in occipital and central regions during photic stimulation. UMLS:C4023463 hp.json http://purl.obolibrary.org/obo/HP_0011212 HP:0011213 biolink:PhenotypicFeature EEG with photoparoxysmal response grade III Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation. UMLS:C4023462 hp.json http://purl.obolibrary.org/obo/HP_0011213 HP:0011214 biolink:PhenotypicFeature EEG with photoparoxysmal response grade IV Occurrence of generalized epileptiform discharges during photic stimulation. UMLS:C4023461 hp.json http://purl.obolibrary.org/obo/HP_0011214 HP:0011215 biolink:PhenotypicFeature Hemihypsarrhythmia Hypsarrhythmia occurring in one hemisphere. UMLS:C4023460 hp.json http://purl.obolibrary.org/obo/HP_0011215 UBERON:0035881 biolink:AnatomicalEntity ethmoidomaxillary suture A suture between the orbital surface of the body of the maxilla with the orbital plate of the ethmoid bone. FMA:52954 hp.json sutura ethmoidomaxillaris|ethmoidomaxillary suture of skull http://purl.obolibrary.org/obo/UBERON_0035881 UBERON:0035883 biolink:AnatomicalEntity lacrimomaxillary suture A suture between the lacrimal bone and the maxilla. FMA:52961 hp.json lacrimomaxillary suture of skull|sutura lacrimomaxillaris http://purl.obolibrary.org/obo/UBERON_0035883 HP:0001888 biolink:PhenotypicFeature Lymphopenia A reduced number of lymphocytes in the blood. UMLS:C0024312|SNOMEDCT_US:48813009|MSH:D008231 hp.json Lymphocytopenia|Absolute lymphocyte count decrease|Decreased blood lymphocyte number|Low lymphocyte number http://purl.obolibrary.org/obo/HP_0001888 UBERON:0035882 biolink:AnatomicalEntity sphenomaxillary suture An inconstant suture between the pterygoid process of the sphenoid bone and the body of the maxilla. FMA:52957 hp.json sutura sphenomaxillaris|sphenomaxillary suture of skull http://purl.obolibrary.org/obo/UBERON_0035882 HP:0001889 biolink:PhenotypicFeature Megaloblastic anemia Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). MSH:D000749|SNOMEDCT_US:53165003|UMLS:C0002888 hp.json Megaloblastic anaemia http://purl.obolibrary.org/obo/HP_0001889 UBERON:0035884 biolink:AnatomicalEntity maxillary-premaxillary suture A suture between the maxilla and premaxilla. hp.json incisive suture|premaxillary suture|maxillary-premaxillary incisive suture http://purl.obolibrary.org/obo/UBERON_0035884 HP:0001882 biolink:PhenotypicFeature Leukopenia An abnormal decreased number of leukocytes in the blood. MSH:D007970|SNOMEDCT_US:84828003|UMLS:C0023530 hp.json Low white blood cell count|Decreased blood leukocyte number http://purl.obolibrary.org/obo/HP_0001882 HP:0001883 biolink:PhenotypicFeature Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. SNOMEDCT_US:398309008|MSH:D000070558|UMLS:C1301937|UMLS:C3552713 hp.json Talipes foot deformities http://purl.obolibrary.org/obo/HP_0001883 HP:0001880 biolink:PhenotypicFeature Eosinophilia Increased count of eosinophils in the blood. MSH:D004802|UMLS:C0014457 hp.json High blood eosinophil count http://purl.obolibrary.org/obo/HP_0001880 UBERON:0035879 biolink:AnatomicalEntity frontomaxillary suture A suture between the frontal bone and the frontal process of the maxilla. FMA:52950 hp.json frontomaxillary suture of skull|sutura frontomaxillaris http://purl.obolibrary.org/obo/UBERON_0035879 HP:0001881 biolink:PhenotypicFeature Abnormal leukocyte morphology An abnormality of leukocytes. UMLS:C0152009|SNOMEDCT_US:24827003|SNOMEDCT_US:134199001 hp.json Abnormality of leukocytes http://purl.obolibrary.org/obo/HP_0001881 HP:0001886 biolink:PhenotypicFeature Foot osteomyelitis An infection of bone of the foot. UMLS:C4025737 hp.json Foot bone infection http://purl.obolibrary.org/obo/HP_0001886 HP:0001884 biolink:PhenotypicFeature Talipes calcaneovalgus Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. SNOMEDCT_US:205083002|UMLS:C0152237|SNOMEDCT_US:31668003|MSH:D005413 hp.json Pes calcaneovarus http://purl.obolibrary.org/obo/HP_0001884 HP:0001885 biolink:PhenotypicFeature Short 2nd toe Underdevelopment (hypoplasia) of the second toe. UMLS:C4021769 hp.json Short second toe http://purl.obolibrary.org/obo/HP_0001885 HP:0011217 biolink:PhenotypicFeature Abnormal shape of the occiput An abnormal shape of occiput. UMLS:C4023459 hp.json Abnormal shape of the back of the head|Abnormal shape of posterior cranium|Abnormal shape of the back of the skull|Abnormal shape of posterior skull|Abnormal shape of posterior head http://purl.obolibrary.org/obo/HP_0011217 HP:0011218 biolink:PhenotypicFeature Abnormal shape of the frontal region An abnormal shape of the frontal part of the head. UMLS:C4023458 hp.json Dysmorphic frontal region|Abnormal morphology of the frontal region|Abnormal shape of the forehead|Dysmorphic forehead http://purl.obolibrary.org/obo/HP_0011218 HP:0011219 biolink:PhenotypicFeature Short face Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). UMLS:C4023457 hp.json Decreased length of face|Vertical Facial Deficiency|Short facies|Vertical insufficiency of face|Short face|Vertical facial insufficiency|Decreased vertical dimension of face|Vertical shortening of face|Vertical deficiency of face|Vertical hypoplasia of face|Decreased height of face http://purl.obolibrary.org/obo/HP_0011219 hposlim_core HP:0011200 biolink:PhenotypicFeature EEG with generalized polymorphic epileptiform discharges Generalized epileptiform discharges of different shapes and frequencies. UMLS:C4023474 hp.json EEG with generalised polymorphic epileptiform discharges http://purl.obolibrary.org/obo/HP_0011200 HP:0011201 biolink:PhenotypicFeature EEG with changes in voltage EEG with abnormal amplitude. UMLS:C4023473 hp.json http://purl.obolibrary.org/obo/HP_0011201 HP:0011202 biolink:PhenotypicFeature EEG with diffuse acceleration EEG frequency is abnormally increased. UMLS:C4023472 hp.json http://purl.obolibrary.org/obo/HP_0011202 HP:0011203 biolink:PhenotypicFeature EEG with abnormally slow frequencies EEG with abnormally slow frequencies. UMLS:C4023471 hp.json http://purl.obolibrary.org/obo/HP_0011203 HP:0011204 biolink:PhenotypicFeature EEG with continuous slow activity EEG showing diffuse slowing without interruption. UMLS:C4023470 hp.json http://purl.obolibrary.org/obo/HP_0011204 HP:0001899 biolink:PhenotypicFeature Increased hematocrit An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. UMLS:C0239935 hp.json Increased Hct http://purl.obolibrary.org/obo/HP_0001899 HP:0001894 biolink:PhenotypicFeature Thrombocytosis Increased numbers of platelets in the peripheral blood. SNOMEDCT_US:6631009|SNOMEDCT_US:415115007|MSH:D013922|UMLS:C0857460|UMLS:C0836924 hp.json Increased platelet count|Thrombocythemia|Increased number of platelets in blood|Thrombocythaemia http://purl.obolibrary.org/obo/HP_0001894 HP:0001891 biolink:PhenotypicFeature Iron deficiency anemia UMLS:C0162316|SNOMEDCT_US:87522002|MSH:D018798 hp.json Iron deficiency anaemia|Iron-deficiency anaemia|Iron-deficiency anemia|Ferropenic http://purl.obolibrary.org/obo/HP_0001891 HP:0001892 biolink:PhenotypicFeature Abnormal bleeding An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. SNOMEDCT_US:64779008|SNOMEDCT_US:248250000|UMLS:C1458140 hp.json Bleeding tendency|Hemorrhagic diathesis|Bleeding diathesis http://purl.obolibrary.org/obo/HP_0001892 HP:0001897 biolink:PhenotypicFeature Normocytic anemia A kind of anemia in which the volume of the red blood cells is normal. UMLS:C0085577|SNOMEDCT_US:300980002 hp.json Normocytic anaemia http://purl.obolibrary.org/obo/HP_0001897 HP:0001898 biolink:PhenotypicFeature Increased red blood cell mass The presence of an increased mass of red blood cells in the circulation. UMLS:C1853288 hp.json Increased RBC mass http://purl.obolibrary.org/obo/HP_0001898 HP:0001895 biolink:PhenotypicFeature Normochromic anemia UMLS:C0235983 hp.json Normochromic anaemia http://purl.obolibrary.org/obo/HP_0001895 HP:0001896 biolink:PhenotypicFeature Reticulocytopenia A reduced number of reticulocytes in the peripheral blood. UMLS:C0858867|SNOMEDCT_US:124961001 hp.json http://purl.obolibrary.org/obo/HP_0001896 HP:0011205 biolink:PhenotypicFeature EEG with intermittent slow activity Non-continuous diffuse slowing of electroencephalographic patterns. UMLS:C4023469 hp.json http://purl.obolibrary.org/obo/HP_0011205 HP:0011206 biolink:PhenotypicFeature EEG with generalized slow activity grade 1 Slowing at frequencies between 7.5 and 8.5 Hz. UMLS:C4023468 hp.json EEG with generalised slow activity grade 1 http://purl.obolibrary.org/obo/HP_0011206 HP:0011207 biolink:PhenotypicFeature EEG with generalized slow activity grade 2 Generalized slowing of EEG activity at frequencies between 4-7 Hz. UMLS:C4023467 hp.json EEG with generalised slow activity grade 2 http://purl.obolibrary.org/obo/HP_0011207 HP:0011208 biolink:PhenotypicFeature EEG with generalized slow activity grade 3 Generalized slowing of EEG activity at frequencies between 0.5-3 Hz. UMLS:C4023466 hp.json EEG with generalised slow activity grade 3 http://purl.obolibrary.org/obo/HP_0011208 HP:0011209 biolink:PhenotypicFeature EEG with generalized slow activity grade 4 EEG without electrical activity. UMLS:C4021198 hp.json EEG with generalised slow activity grade 4|Flat line EEG http://purl.obolibrary.org/obo/HP_0011209 OBO:HsapDv_0000092 biolink:NamedThing human middle aged stage Late adulthood that refers to an adult who is over 45 and under 65. hp.json 45-64 years http://purl.obolibrary.org/obo/HsapDv_0000092 HP:0001890 biolink:PhenotypicFeature Autoimmune hemolytic anemia An autoimmune form of hemolytic anemia. MSH:D000744|SNOMEDCT_US:413603009|UMLS:C0002880 hp.json Autoimmune haemolytic anaemia|Hemolytic anemia, autoimmune|Autoimmune hemolytic anaemia http://purl.obolibrary.org/obo/HP_0001890 OBO:HsapDv_0000091 biolink:NamedThing human late adulthood stage Adult stage that refers to an adult who is over 45. hp.json Middle Aged + Aged|45+ years http://purl.obolibrary.org/obo/HsapDv_0000091 GO:0110116 biolink:BiologicalProcess regulation of compound eye photoreceptor cell differentiation Any process that modulates the frequency, rate or extent of compound eye photoreceptor cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0110116 GO:0110111 biolink:BiologicalProcess negative regulation of animal organ morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of animal organ morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_0110111 GO:0110110 biolink:BiologicalProcess positive regulation of animal organ morphogenesis Any process that activates or increases the frequency, rate or extent of animal organ morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_0110110 HP:0001868 biolink:PhenotypicFeature Autoamputation of foot Spontaneous detachment of a foot from the body. UMLS:C4025740 hp.json http://purl.obolibrary.org/obo/HP_0001868 HP:0001869 biolink:PhenotypicFeature Deep plantar creases The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. UMLS:C1857953 hp.json Deep wrinkles in soles of feet http://purl.obolibrary.org/obo/HP_0001869 OBO:HsapDv_0000086 biolink:NamedThing adolescent stage Mature stage that refers to an adolescent who is over 13 and under 19 years old. hp.json 13-18 years|teenager|teen http://purl.obolibrary.org/obo/HsapDv_0000086 OBO:HsapDv_0000083 biolink:NamedThing infant stage Immature stage that refers to an infant who is over 31 days and is under 24 months old. hp.json 1-23 months|infantile stage http://purl.obolibrary.org/obo/HsapDv_0000083 OBO:HsapDv_0000089 biolink:NamedThing young adult stage Early adulthood that refers to an adult who is under 25. hp.json 19-24 years http://purl.obolibrary.org/obo/HsapDv_0000089 HP:0001864 biolink:PhenotypicFeature Clinodactyly of the 5th toe Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). UMLS:C4280586|UMLS:C4025741 hp.json Curvature of the little toe|Curvature of the pinky toe|Curvature of the pinkie toe http://purl.obolibrary.org/obo/HP_0001864 OBO:HsapDv_0000087 biolink:NamedThing human adult stage Human developmental stage that refers to an adult who is over 19. hp.json 19+ years http://purl.obolibrary.org/obo/HsapDv_0000087 HP:0001862 biolink:PhenotypicFeature obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) hp.json http://purl.obolibrary.org/obo/HP_0001862 OBO:HsapDv_0000088 biolink:NamedThing human early adulthood stage Adult stage that refers to an adult who is under 45. hp.json 19-44 years http://purl.obolibrary.org/obo/HsapDv_0000088 HP:0001863 biolink:PhenotypicFeature Toe clinodactyly Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). UMLS:C4280587|UMLS:C4021770 hp.json Toe curvature|Clinodactyly of feet http://purl.obolibrary.org/obo/HP_0001863 OBO:HsapDv_0000081 biolink:NamedThing child stage Immature stage that refers to child who is over 2 and under 13 years old. hp.json 2-12 years http://purl.obolibrary.org/obo/HsapDv_0000081 OBO:HsapDv_0000082 biolink:NamedThing newborn human stage Immature stage that refers to a newborn who is under 32 days old. hp.json neonate|0-1 month|neonatal stage http://purl.obolibrary.org/obo/HsapDv_0000082 GO:0110117 biolink:BiologicalProcess positive regulation of compound eye photoreceptor cell differentiation Any process that activates or increases the frequency, rate or extent of compound eye photoreceptor cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0110117 OBO:HsapDv_0000080 biolink:NamedThing immature stage Human developmental stage that covers the period from birth until 12 years old. UBERON:0000112 hp.json 0-12 years|child http://purl.obolibrary.org/obo/HsapDv_0000080 GO:0110118 biolink:BiologicalProcess negative regulation of compound eye photoreceptor cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of compound eye photoreceptor cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0110118 GO:0110124 biolink:BiologicalProcess positive regulation of myotube cell migration Any process that activates, maintains or increases the frequency, rate or extent of myotube cell migration. hp.json http://purl.obolibrary.org/obo/GO_0110124 GO:0110125 biolink:BiologicalProcess negative regulation of myotube cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of myotube cell migration. hp.json http://purl.obolibrary.org/obo/GO_0110125 GO:0110122 biolink:BiologicalProcess myotube cell migration The orderly movement of a myotube cell from one site to another, often during the development of a multicellular organism. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate, and fuse. hp.json http://purl.obolibrary.org/obo/GO_0110122 GO:0110123 biolink:BiologicalProcess regulation of myotube cell migration Any process that modulates the frequency, rate or extent of myotube cell migration. hp.json http://purl.obolibrary.org/obo/GO_0110123 HP:0001879 biolink:PhenotypicFeature Abnormal eosinophil morphology An abnormal count or structure of eosinophils. UMLS:C4025738 hp.json Abnormality of eosinophils http://purl.obolibrary.org/obo/HP_0001879 HP:0001877 biolink:PhenotypicFeature Abnormal erythrocyte morphology Any structural abnormality of erythrocytes (red-blood cells). SNOMEDCT_US:12222001|UMLS:C4020862|UMLS:C0391870 hp.json Abnormality of red blood cells|Abnormality of erythroid lineage cell|Abnormality of erythrocytes http://purl.obolibrary.org/obo/HP_0001877 HP:0001878 biolink:PhenotypicFeature Hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis). MSH:D000743|UMLS:C0002878|SNOMEDCT_US:61261009 hp.json Hemolytic anaemia|Haemolytic anaemia|Increased hemolysis http://purl.obolibrary.org/obo/HP_0001878 HP:0001871 biolink:PhenotypicFeature Abnormality of blood and blood-forming tissues An abnormality of the hematopoietic system. UMLS:C4020864|SNOMEDCT_US:191124002|SNOMEDCT_US:34093004|UMLS:C0018939|UMLS:C0850715|MSH:D006402 hp.json Hematologic disease|Abnormality of the haematopoietic system|Abnormality of the hematopoietic system|Haematological abnormality|Hematological abnormality|Abnormality of blood and blood-forming tissues http://purl.obolibrary.org/obo/HP_0001871 HP:0001872 biolink:PhenotypicFeature Abnormality of thrombocytes An abnormality of platelets. MSH:D013915|UMLS:C4020863|SNOMEDCT_US:32942005|UMLS:C0151854|UMLS:C0040015|SNOMEDCT_US:127566005 hp.json Thrombasthenia|Blood platelet disease|Platelet abnormalities http://purl.obolibrary.org/obo/HP_0001872 HP:0001870 biolink:PhenotypicFeature Acroosteolysis of distal phalanges (feet) UMLS:C4025739 hp.json Acroosteolysis of distal phalanges of feet http://purl.obolibrary.org/obo/HP_0001870 HP:0001875 biolink:PhenotypicFeature Neutropenia An abnormally low number of neutrophils in the peripheral blood. SNOMEDCT_US:165517008|UMLS:C0853697 hp.json Peripheral neutropenia|Low blood neutrophil count|Neutropoenia|Low neutrophil count http://purl.obolibrary.org/obo/HP_0001875 HP:0001876 biolink:PhenotypicFeature Pancytopenia An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). SNOMEDCT_US:127034005|UMLS:C0030312|MSH:D010198 hp.json Low blood cell count|Pancytopaenia http://purl.obolibrary.org/obo/HP_0001876 HP:0001873 biolink:PhenotypicFeature Thrombocytopenia A reduction in the number of circulating thrombocytes. SNOMEDCT_US:302215000|SNOMEDCT_US:415116008|MSH:D013921|UMLS:C0040034|UMLS:C0392386 hp.json Low platelet count http://purl.obolibrary.org/obo/HP_0001873 HP:0001874 biolink:PhenotypicFeature Abnormality of neutrophils A neutrophil abnormality. UMLS:C0427515|SNOMEDCT_US:250274006 hp.json Abnormality of polymorphonuclear neutrophils|Abnormality of neutrophils|Abnormality of neutrophil http://purl.obolibrary.org/obo/HP_0001874 GO:1905651 biolink:BiologicalProcess regulation of artery morphogenesis Any process that modulates the frequency, rate or extent of artery morphogenesis. hp.json regulation of arterial morphogenesis|regulation of arteriogenesis http://purl.obolibrary.org/obo/GO_1905651 GO:1905652 biolink:BiologicalProcess negative regulation of artery morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of artery morphogenesis. hp.json inhibition of artery morphogenesis|downregulation of arterial morphogenesis|down-regulation of artery morphogenesis|downregulation of arteriogenesis|down regulation of arterial morphogenesis|inhibition of arterial morphogenesis|down regulation of arteriogenesis|down-regulation of arterial morphogenesis|negative regulation of arterial morphogenesis|inhibition of arteriogenesis|negative regulation of arteriogenesis|down-regulation of arteriogenesis|downregulation of artery morphogenesis|down regulation of artery morphogenesis http://purl.obolibrary.org/obo/GO_1905652 UBERON:0011871 biolink:AnatomicalEntity nasomaxillary suture A cranial suture that connects a nasal bone and connects a maxilla. FMA:52960 hp.json nasomaxillary suture of skull|articulation of the nasal bone with maxilla http://purl.obolibrary.org/obo/UBERON_0011871 UBERON:0011865 biolink:AnatomicalEntity corneal stroma collagen fibril The connective tissue bundles in the extracellular matrix of corneal stroma that are composed of collagen, and play a role in tissue strength and elasticity. hp.json http://purl.obolibrary.org/obo/UBERON_0011865 pheno_slim UBERON:0008229 biolink:AnatomicalEntity craniocervical region musculature Musculature system of the pharyngeal and head regions. ZFA:0000328|TAO:0000328|EMAPA:37259|MA:0000571 hp.json head or neck muscle|head muscles|head or neck muscle http://purl.obolibrary.org/obo/UBERON_0008229 UBERON:0011864 biolink:AnatomicalEntity tendon collagen fibril The connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity. hp.json http://purl.obolibrary.org/obo/UBERON_0011864 pheno_slim UBERON:0011869 biolink:AnatomicalEntity pisiform joint FMA:73126 hp.json articulatio ossis pisiformis http://purl.obolibrary.org/obo/UBERON_0011869 GO:0002504 biolink:BiologicalProcess antigen processing and presentation of peptide or polysaccharide antigen via MHC class II The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. hp.json peptide or polysaccharide antigen processing and presentation of via MHC class II http://purl.obolibrary.org/obo/GO_0002504 UBERON:0011863 biolink:AnatomicalEntity bone collagen fibril The connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. hp.json http://purl.obolibrary.org/obo/UBERON_0011863 pheno_slim UBERON:0011862 biolink:AnatomicalEntity pulmonary collagen fibril The connective tissue bundles in the extracellular matrix of pulmonary tissue that are composed of collagen, and play a role in tissue strength and elasticity. hp.json http://purl.obolibrary.org/obo/UBERON_0011862 pheno_slim UBERON:0011861 biolink:AnatomicalEntity aorta collagen fibril The connective tissue bundles in the extracellular matrix of aorta tissue that are composed of collagen, and play a role in tissue strength and elasticity. hp.json http://purl.obolibrary.org/obo/UBERON_0011861 pheno_slim UBERON:0011860 biolink:AnatomicalEntity collection of collagen fibrils FMA:63212|MESH:D024022|NIF_Subcellular:sao7547390221|NCIT:C32339 hp.json http://purl.obolibrary.org/obo/UBERON_0011860 GO:1905653 biolink:BiologicalProcess positive regulation of artery morphogenesis Any process that activates or increases the frequency, rate or extent of artery morphogenesis. hp.json up-regulation of arterial morphogenesis|up regulation of arteriogenesis|activation of arterial morphogenesis|upregulation of artery morphogenesis|up-regulation of arteriogenesis|activation of arteriogenesis|upregulation of arterial morphogenesis|up regulation of artery morphogenesis|upregulation of arteriogenesis|positive regulation of arterial morphogenesis|up-regulation of artery morphogenesis|activation of artery morphogenesis|up regulation of arterial morphogenesis|positive regulation of arteriogenesis http://purl.obolibrary.org/obo/GO_1905653 UBERON:0011856 biolink:AnatomicalEntity acinus of lactiferous gland An acinus that is part of a mammary gland. FMA:74438 hp.json lactiferous gland acinus http://purl.obolibrary.org/obo/UBERON_0011856 CHEBI:16449 biolink:ChemicalSubstance alanine An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2. Gmelin:2449|PMID:17439666|Beilstein:635807|Reaxys:635807|Wikipedia:Alanine|CAS:302-72-7|Drug_Central:4306|KEGG:C01401|CAS:302-72-7|PMID:22264337|CAS:302-72-7 hp.json 2-aminopropanoic acid|2-Aminopropionic acid|ALA|Alanine|alanina|A|2-Aminopropanoic acid|Alanin|alanine http://purl.obolibrary.org/obo/CHEBI_16449 3_STAR UBERON:0011854 biolink:AnatomicalEntity acinus of areolar gland An acinus that is part of a areolar gland. FMA:62081 hp.json areolar gland acinus http://purl.obolibrary.org/obo/UBERON_0011854 UBERON:0035849 biolink:AnatomicalEntity orbital margin The mostly sharp edge of the orbital opening that is the peripheral border of the base of the pyramidal orbit. FMA:53176 hp.json margin of orbit|margo orbitalis|orbital rim http://purl.obolibrary.org/obo/UBERON_0035849 UBERON:0011859 biolink:AnatomicalEntity internal acoustic meatus The internal auditory meatus (also internal acoustic meatus, internal auditory canal, and internal acoustic canal) is a canal in the petrous bone of the temporal bone of the skull that carries nerves from inside the cranium towards the middle and inner ear compartments namely cranial nerve VII and cranial nerve VIII. FMA:53163|NCIT:C95443|UMLS:C0149591 hp.json internal auditory canal|internal acoustic meatus|porus acusticus internus|internal acoustic canal|internal auditory meatus http://purl.obolibrary.org/obo/UBERON_0011859 pheno_slim UBERON:0011858 biolink:AnatomicalEntity acinus of exocrine gland An acinus that is part of a exocrine gland. hp.json exocrine gland acinus http://purl.obolibrary.org/obo/UBERON_0011858 UBERON:0011857 biolink:AnatomicalEntity acinus of lacrimal gland An acinus that is part of a lacrimal gland. FMA:85250 hp.json lacrimal gland acinus http://purl.obolibrary.org/obo/UBERON_0011857 UBERON:0023879 biolink:AnatomicalEntity neural system A set of neural structures that subserve a specific function, e.g., visual system. NLXANAT:090802 hp.json neural system http://purl.obolibrary.org/obo/UBERON_0023879 GO:1903008 biolink:BiologicalProcess organelle disassembly The disaggregation of an organelle into its constituent components. hp.json organelle degradation http://purl.obolibrary.org/obo/GO_1903008 GO:1905671 biolink:BiologicalProcess regulation of lysosome organization Any process that modulates the frequency, rate or extent of lysosome organization. hp.json regulation of lysosome organization and biogenesis|regulation of lysosome organisation http://purl.obolibrary.org/obo/GO_1905671 GO:2000647 biolink:BiologicalProcess negative regulation of stem cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of stem cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_2000647 GO:1905672 biolink:BiologicalProcess negative regulation of lysosome organization Any process that stops, prevents or reduces the frequency, rate or extent of lysosome organization. hp.json down regulation of lysosome organization|downregulation of lysosome organization and biogenesis|inhibition of lysosome organization|downregulation of lysosome organization|down regulation of lysosome organization and biogenesis|negative regulation of lysosome organisation|down-regulation of lysosome organisation|negative regulation of lysosome organization and biogenesis|down-regulation of lysosome organization and biogenesis|down regulation of lysosome organisation|downregulation of lysosome organisation|inhibition of lysosome organisation|down-regulation of lysosome organization|inhibition of lysosome organization and biogenesis http://purl.obolibrary.org/obo/GO_1905672 GO:2000648 biolink:BiologicalProcess positive regulation of stem cell proliferation Any process that activates or increases the frequency, rate or extent of stem cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_2000648 GO:1905673 biolink:BiologicalProcess positive regulation of lysosome organization Any process that activates or increases the frequency, rate or extent of lysosome organization. hp.json up regulation of lysosome organization and biogenesis|up regulation of lysosome organisation|up-regulation of lysosome organization and biogenesis|activation of lysosome organisation|positive regulation of lysosome organisation|up-regulation of lysosome organization|upregulation of lysosome organisation|up regulation of lysosome organization|activation of lysosome organization and biogenesis|activation of lysosome organization|upregulation of lysosome organization and biogenesis|positive regulation of lysosome organization and biogenesis|upregulation of lysosome organization|up-regulation of lysosome organisation http://purl.obolibrary.org/obo/GO_1905673 UBERON:0011850 biolink:AnatomicalEntity acinus of salivary gland An acinus that is part of a salivary gland. FMA:59870 hp.json salivary gland acinus http://purl.obolibrary.org/obo/UBERON_0011850 GO:1903012 biolink:BiologicalProcess positive regulation of bone development Any process that activates or increases the frequency, rate or extent of bone development. hp.json up regulation of bone development|up-regulation of bone development|activation of bone development|upregulation of bone development http://purl.obolibrary.org/obo/GO_1903012 UBERON:0011845 biolink:AnatomicalEntity duct of sebaceous gland A duct that is part of a sebaceous gland. FMA:70947|NCIT:C33520 hp.json sebaceous gland duct http://purl.obolibrary.org/obo/UBERON_0011845 PR:000050175 biolink:Protein immunoglobulin light chain protein A protein that is a translation product of some mRNA produced by a somatically recombined immunoglobulin light chain locus. hp.json IgL http://purl.obolibrary.org/obo/PR_000050175 PR:000050174 biolink:Protein immunoglobulin heavy chain protein A protein that is a translation product of some mRNA produced by a somatically recombined immunoglobulin heavy chain locus. hp.json IgH http://purl.obolibrary.org/obo/PR_000050174 GO:1903011 biolink:BiologicalProcess negative regulation of bone development Any process that stops, prevents or reduces the frequency, rate or extent of bone development. hp.json downregulation of bone development|down regulation of bone development|inhibition of bone development|down-regulation of bone development http://purl.obolibrary.org/obo/GO_1903011 GO:1903010 biolink:BiologicalProcess regulation of bone development Any process that modulates the frequency, rate or extent of bone development. hp.json http://purl.obolibrary.org/obo/GO_1903010 PR:000050171 biolink:Protein IgD immunoglobulin complex, circulating (human) An IgD immunoglobulin complex, circulating in human. Circulating IgD is composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains (kappa or lambda), held together by disulfide bonds, and present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json hIgD/circulating|IgD antibody (human) http://purl.obolibrary.org/obo/PR_000050171 OBO:HsapDv_0000045 biolink:NamedThing prenatal stage Prenatal stage that starts with fertilization and ends at birth. UBERON:0000068 hp.json http://purl.obolibrary.org/obo/HsapDv_0000045 UBERON:0011847 biolink:AnatomicalEntity acinus of parotid gland An acinus that is part of a parotid gland. FMA:59863|EMAPA:37933 hp.json parotid gland acinus http://purl.obolibrary.org/obo/UBERON_0011847 pheno_slim UBERON:0011846 biolink:AnatomicalEntity acinus of sebaceous gland An acinus that is part of a sebaceous gland. FMA:59657 hp.json sebaceous gland acinus http://purl.obolibrary.org/obo/UBERON_0011846 CHEBI:41402 biolink:ChemicalSubstance carboxymethyl group PDBeChem:ACY hp.json aspartic acid side-chain|CARBOXYMETHYL GROUP|-CH2-COOH|carboxymethyl http://purl.obolibrary.org/obo/CHEBI_41402 3_STAR GO:0051493 biolink:BiologicalProcess regulation of cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. hp.json regulation of cytoskeleton organisation|regulation of cytoskeleton organization and biogenesis http://purl.obolibrary.org/obo/GO_0051493 UBERON:0008200 biolink:AnatomicalEntity forehead The part of the face above the eyes[MESH]. In human anatomy, the forehead is the fore part of the head. It is, formally, an area of the head bounded by three features, two of the skull and one of the scalp. The top of the forehead is marked by the hairline, the edge of the area where hair on the scalp grows. The bottom of the forehead is marked by the supraorbital ridge, the bone feature of the skull above the eyes. The two sides of the forehead are marked by the temporal ridge, a bone feature that links the supraorbital ridge to the coronal suture line and beyond[WP]. UMLS:C0016540|GAID:74|NCIT:C89803|EMAPA:37869|galen:Forehead|FMA:63864|MESH:D005546 hp.json fore head|sinciput http://purl.obolibrary.org/obo/UBERON_0008200 pheno_slim UBERON:0008202 biolink:AnatomicalEntity bone of hip region MA:0000655|EMAPA:37308|FMA:42854 hp.json http://purl.obolibrary.org/obo/UBERON_0008202 pheno_slim|non_informative|grouping_class GO:0051494 biolink:BiologicalProcess negative regulation of cytoskeleton organization Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. hp.json down regulation of cytoskeleton organization|inhibition of cytoskeleton organization|downregulation of cytoskeleton organization|negative regulation of cytoskeleton organisation|negative regulation of cytoskeleton organization and biogenesis|down-regulation of cytoskeleton organization http://purl.obolibrary.org/obo/GO_0051494 GO:0051495 biolink:BiologicalProcess positive regulation of cytoskeleton organization Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. hp.json positive regulation of cytoskeleton organization and biogenesis|up-regulation of cytoskeleton organization|positive regulation of cytoskeleton organisation|up regulation of cytoskeleton organization|activation of cytoskeleton organization|stimulation of cytoskeleton organization|upregulation of cytoskeleton organization http://purl.obolibrary.org/obo/GO_0051495 UBERON:0008203 biolink:AnatomicalEntity pelvic cavity The part of the ventral body cavity that is within the pelvis. MA:0003089|EMAPA:37235|FMA:9738|SCTID:281903009|Wikipedia:Pelvic_cavity hp.json space of pelvic compartment|cavitas pelvis|cavitas pelvis http://purl.obolibrary.org/obo/UBERON_0008203 PR:P01101 biolink:Protein protein c-Fos (mouse) A protein c-Fos that is encoded in the genome of mouse. UniProtKB:P01101 hp.json Fos|FBJ osteosarcoma oncogene (mouse)|cellular oncogene fos (mouse)|mFOS|transcription factor AP-1 subunit c-Fos (mouse) http://purl.obolibrary.org/obo/PR_P01101 GO:1903019 biolink:BiologicalProcess negative regulation of glycoprotein metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of glycoprotein metabolic process. hp.json downregulation of glycoprotein metabolic process|down-regulation of glycoprotein metabolism|negative regulation of glycoprotein metabolism|down regulation of glycoprotein metabolic process|inhibition of glycoprotein metabolic process|down regulation of glycoprotein metabolism|down-regulation of glycoprotein metabolic process|inhibition of glycoprotein metabolism|downregulation of glycoprotein metabolism http://purl.obolibrary.org/obo/GO_1903019 GO:1903018 biolink:BiologicalProcess regulation of glycoprotein metabolic process Any process that modulates the frequency, rate or extent of glycoprotein metabolic process. hp.json regulation of glycoprotein metabolism http://purl.obolibrary.org/obo/GO_1903018 OBO:HsapDv_0000037 biolink:NamedThing fetal stage Prenatal stage that starts with the fully formed embryo and ends at birth. UBERON:0007220|EV:0300011 hp.json foetus stage|fetus stage|second and third trimester http://purl.obolibrary.org/obo/HsapDv_0000037 PR:000050186 biolink:Protein IgD heavy chain protein An immunoglobulin heavy chain protein in which the constant region is encoded by the IgD gene segment. hp.json IgHD|immunoglobulin heavy chain delta|immunoglobulin delta heavy chain|immunoglobulin D heavy chain http://purl.obolibrary.org/obo/PR_000050186 PR:000050185 biolink:Protein Ig lambda light chain protein (human) An Ig lambda light chain protein that is encoded in the genome of human. hp.json hIgLambda http://purl.obolibrary.org/obo/PR_000050185 PR:000050184 biolink:Protein Ig kappa light chain protein (human) An Ig kappa light chain protein that is encoded in the genome of human. hp.json hIgKappa http://purl.obolibrary.org/obo/PR_000050184 GO:1903020 biolink:BiologicalProcess positive regulation of glycoprotein metabolic process Any process that activates or increases the frequency, rate or extent of glycoprotein metabolic process. hp.json upregulation of glycoprotein metabolic process|up-regulation of glycoprotein metabolism|up regulation of glycoprotein metabolism|up regulation of glycoprotein metabolic process|activation of glycoprotein metabolism|positive regulation of glycoprotein metabolism|up-regulation of glycoprotein metabolic process|activation of glycoprotein metabolic process|upregulation of glycoprotein metabolism http://purl.obolibrary.org/obo/GO_1903020 PR:000050183 biolink:Protein immunoglobulin light chain protein (human) An immunoglobulin light chain protein that is encoded in the genome of human. hp.json hIgL http://purl.obolibrary.org/obo/PR_000050183 PR:000050182 biolink:Protein Ig lambda light chain protein An immunoglobulin light chain protein that is produced from the immunoglobulin lambda locus. hp.json IgLambda http://purl.obolibrary.org/obo/PR_000050182 PR:000050181 biolink:Protein Ig kappa light chain protein An immunoglobulin light chain protein that is produced from the immunoglobulin kappa locus. hp.json IgKappa http://purl.obolibrary.org/obo/PR_000050181 PR:000050187 biolink:Protein IgD heavy chain protein (human) An IgD heavy chain protein that is encoded in the genome of human. hp.json hIgHD|immunoglobulin heavy chain delta (human)|immunoglobulin delta heavy chain (human)|immunoglobulin D heavy chain (human) http://purl.obolibrary.org/obo/PR_000050187 HP:0001808 biolink:PhenotypicFeature Fragile nails Nails that easily break. UMLS:C1856963 hp.json Brittle nails http://purl.obolibrary.org/obo/HP_0001808 HP:0001809 biolink:PhenotypicFeature Split nail A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. SNOMEDCT_US:85136002|UMLS:C0263530 hp.json Longitudinal splitting of nail http://purl.obolibrary.org/obo/HP_0001809 HP:0001802 biolink:PhenotypicFeature Absent toenail Congenital absence of the toenail. UMLS:C1844555 hp.json Anonychia of toenails|Absent toenail|Absent toenails (anonychia)|Absent toenails http://purl.obolibrary.org/obo/HP_0001802 hposlim_core HP:0001803 biolink:PhenotypicFeature Nail pits Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. SNOMEDCT_US:89704006|MEDDRA:10028702|UMLS:C0150993 hp.json Nail pits|Nail pitting|Pitted nails http://purl.obolibrary.org/obo/HP_0001803 secondary_consequence GO:1905690 biolink:BiologicalProcess nucleus disassembly The disaggregation of a nucleus into its constituent components. hp.json cell nucleus disassembly http://purl.obolibrary.org/obo/GO_1905690 HP:0001800 biolink:PhenotypicFeature Hypoplastic toenails Underdevelopment of the toenail. UMLS:C1837279 hp.json Underdeveloped toenails http://purl.obolibrary.org/obo/HP_0001800 HP:0001806 biolink:PhenotypicFeature Onycholysis Detachment of the nail from the nail bed. MEDDRA:10030337|MSH:D054039|SNOMEDCT_US:75789001|UMLS:C0085661 hp.json Detachment of nail|Oncholysis http://purl.obolibrary.org/obo/HP_0001806 hposlim_core HP:0001807 biolink:PhenotypicFeature Ridged nail Longitudinal, linear prominences in the nail plate. UMLS:C0423820|SNOMEDCT_US:271768001 hp.json Nail ridging|Ridged nails|Longitudinal ridging|Grooved nails http://purl.obolibrary.org/obo/HP_0001807 hposlim_core HP:0001804 biolink:PhenotypicFeature Hypoplastic fingernail Underdevelopment of a fingernail. UMLS:C1856786 hp.json Underdeveloped fingernail|Small fingernail http://purl.obolibrary.org/obo/HP_0001804 HP:0001805 biolink:PhenotypicFeature Onychogryposis Nail that appears thick when viewed on end. SNOMEDCT_US:52897009|UMLS:C0263537 hp.json Thickened nails|Dystrophic thickened nails|Thick nail http://purl.obolibrary.org/obo/HP_0001805 GO:1903034 biolink:BiologicalProcess regulation of response to wounding Any process that modulates the frequency, rate or extent of response to wounding. hp.json regulation of physiological response to wounding http://purl.obolibrary.org/obo/GO_1903034 UBERON:0008266 biolink:AnatomicalEntity periodontal ligament The fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone. It extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket[BTO]. MA:0002467|GAID:1259|EMAPA:35679|FMA:56665|CALOHA:TS-0763|BTO:0001020|MESH:D010513 hp.json alveolar periosteum|periodontal fibre|periodontium|PDL|peridontal fibre|peridontal ligament fiber|desmodontium|alveolodental ligament|peridontal ligament|periodontal fiber|peridontal membrane|paradentium|alveolodental membrane|peridontal fiber|odontoperiosteum|fibra periodontalis|peridental membrane|peridontium|peridontal ligament fibre http://purl.obolibrary.org/obo/UBERON_0008266 pheno_slim HP:0001814 biolink:PhenotypicFeature Deep-set nails Deeply placed nails. UMLS:C3277753 hp.json Deep-set nails http://purl.obolibrary.org/obo/HP_0001814 GO:1903039 biolink:BiologicalProcess positive regulation of leukocyte cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. hp.json up regulation of leukocyte adhesion|up-regulation of leukocyte cell-cell adhesion|activation of leukocyte cell-cell adhesion|up-regulation of leukocyte cell adhesion|up-regulation of leukocyte adhesion|up regulation of leukocyte cell adhesion|activation of leukocyte adhesion|activation of leukocyte cell adhesion|positive regulation of leukocyte cell adhesion|upregulation of leukocyte cell-cell adhesion|upregulation of leukocyte cell adhesion|upregulation of leukocyte adhesion|up regulation of leukocyte cell-cell adhesion|positive regulation of leukocyte adhesion http://purl.obolibrary.org/obo/GO_1903039 HP:0001812 biolink:PhenotypicFeature Hyperconvex fingernails When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. UMLS:C1844825 hp.json Tubular fingernails http://purl.obolibrary.org/obo/HP_0001812 GO:1903038 biolink:BiologicalProcess negative regulation of leukocyte cell-cell adhesion Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte cell-cell adhesion. hp.json downregulation of leukocyte cell-cell adhesion|inhibition of leukocyte cell adhesion|downregulation of leukocyte cell adhesion|downregulation of leukocyte adhesion|down regulation of leukocyte cell-cell adhesion|inhibition of leukocyte cell-cell adhesion|down-regulation of leukocyte cell-cell adhesion|down regulation of leukocyte adhesion|inhibition of leukocyte adhesion|down-regulation of leukocyte cell adhesion|negative regulation of leukocyte cell adhesion|negative regulation of leukocyte adhesion|down-regulation of leukocyte adhesion|down regulation of leukocyte cell adhesion http://purl.obolibrary.org/obo/GO_1903038 HP:0001817 biolink:PhenotypicFeature Absent fingernail Absence of a fingernail. UMLS:C1844554 hp.json Aplasia of the fingernail|Absent fingernail|Anonychia of fingernails http://purl.obolibrary.org/obo/HP_0001817 hposlim_core HP:0001818 biolink:PhenotypicFeature Paronychia The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). SNOMEDCT_US:71906005|MSH:D010304|UMLS:C0030578|MEDDRA:10034016 hp.json http://purl.obolibrary.org/obo/HP_0001818 hposlim_core GO:1903037 biolink:BiologicalProcess regulation of leukocyte cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. hp.json regulation of leukocyte adhesion|regulation of leukocyte cell adhesion http://purl.obolibrary.org/obo/GO_1903037 GO:1903036 biolink:BiologicalProcess positive regulation of response to wounding Any process that activates or increases the frequency, rate or extent of response to wounding. hp.json upregulation of response to wounding|upregulation of physiological response to wounding|positive regulation of physiological response to wounding|up regulation of response to wounding|up regulation of physiological response to wounding|up-regulation of response to wounding|up-regulation of physiological response to wounding|activation of response to wounding|activation of physiological response to wounding http://purl.obolibrary.org/obo/GO_1903036 GO:1903035 biolink:BiologicalProcess negative regulation of response to wounding Any process that stops, prevents or reduces the frequency, rate or extent of response to wounding. hp.json down regulation of physiological response to wounding|inhibition of response to wounding|inhibition of physiological response to wounding|down-regulation of response to wounding|down-regulation of physiological response to wounding|negative regulation of physiological response to wounding|downregulation of response to wounding|downregulation of physiological response to wounding|down regulation of response to wounding http://purl.obolibrary.org/obo/GO_1903035 HP:0001816 biolink:PhenotypicFeature Thin nail Nail that appears thin when viewed on end. SNOMEDCT_US:63829008|UMLS:C0423823 hp.json Thin nail|Thin nails http://purl.obolibrary.org/obo/HP_0001816 hposlim_core GO:1903045 biolink:BiologicalProcess neural crest cell migration involved in sympathetic nervous system development Any neural crest cell migration that is involved in sympathetic nervous system development. hp.json http://purl.obolibrary.org/obo/GO_1903045 UBERON:0011899 biolink:AnatomicalEntity epimysium Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. UMLS:C0504096|Wikipedia:Epimysium|FMA:9726|NCIT:C32527 hp.json fascia of muscle organ|epimysia|epimysia http://purl.obolibrary.org/obo/UBERON_0011899 UBERON:0035805 biolink:AnatomicalEntity muscle layer of sigmoid colon A muscle layer that is part of the sigmoid colon. FMA:15028 hp.json sigmoideum muscularis|sigmoid colon muscularis propria|muscularis propria of sigmoid colon|tunica muscularis colon sigmoideum|muscularis externa of sigmoid colon http://purl.obolibrary.org/obo/UBERON_0035805 UBERON:0035804 biolink:AnatomicalEntity future mouth The primordial mouth region of the developing head. FMA:293105 hp.json primitive mouth|primordial mouth http://purl.obolibrary.org/obo/UBERON_0035804 HP:0001810 biolink:PhenotypicFeature Dystrophic toenail Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. UMLS:C1833225 hp.json Poor toenail formation|Dystrophic toenails|Dystrophic toenail changes http://purl.obolibrary.org/obo/HP_0001810 UBERON:0035809 biolink:AnatomicalEntity serous cavity FMA:12241|SCTID:304404008 hp.json http://purl.obolibrary.org/obo/UBERON_0035809 UBERON:0008255 biolink:AnatomicalEntity right clavicle A clavicle that is in the right side of a entire appendicular skeleton. FMA:13322 hp.json http://purl.obolibrary.org/obo/UBERON_0008255 UBERON:0008256 biolink:AnatomicalEntity left clavicle A clavicle that is in the left side of a entire appendicular skeleton. FMA:13323 hp.json http://purl.obolibrary.org/obo/UBERON_0008256 GO:2000609 biolink:NamedThing regulation of thyroid hormone generation hp.json http://purl.obolibrary.org/obo/GO_2000609 UBERON:0011892 biolink:AnatomicalEntity anterior uvea Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. EMAPA:37417|SCTID:280656002 hp.json ciliary body and iris|anterior vascular tunic of the eye|vasculosa oculi|Haller tunica vascula|anterior part of uveal tract|anterior vascular layer of the eyeball|ventral uveal tract|anterior uveal tract|tunica vasculosa bulbosa http://purl.obolibrary.org/obo/UBERON_0011892 pheno_slim GO:1903047 biolink:BiologicalProcess mitotic cell cycle process A process that is part of the mitotic cell cycle. hp.json http://purl.obolibrary.org/obo/GO_1903047 gocheck_do_not_annotate UBERON:0011894 biolink:AnatomicalEntity lumen of vagina An organ cavity that is part of a vagina. FMA:19982 hp.json vaginal lumen http://purl.obolibrary.org/obo/UBERON_0011894 GO:1903046 biolink:BiologicalProcess meiotic cell cycle process A process that is part of the meiotic cell cycle. hp.json http://purl.obolibrary.org/obo/GO_1903046 gocheck_do_not_annotate|goslim_pombe UBERON:0035820 biolink:AnatomicalEntity peritoneal sac A serous sac that is the aggregate of the peritoneum and the peritoneal cavity, located in the abdominal cavity. EMAPA:16137|MA:0000054|FMA:9908 hp.json peritoneal component http://purl.obolibrary.org/obo/UBERON_0035820 GO:1903056 biolink:BiologicalProcess regulation of melanosome organization Any process that modulates the frequency, rate or extent of melanosome organization. hp.json regulation of melanosome organization and biogenesis|regulation of melanosome organisation http://purl.obolibrary.org/obo/GO_1903056 GO:1903055 biolink:BiologicalProcess positive regulation of extracellular matrix organization Any process that activates or increases the frequency, rate or extent of extracellular matrix organization. hp.json up regulation of extracellular matrix organization and biogenesis|up-regulation of extracellular matrix organisation|upregulation of extracellular matrix organization|up-regulation of extracellular matrix organization and biogenesis|up regulation of extracellular matrix organisation|activation of extracellular matrix organisation|positive regulation of extracellular matrix organisation|activation of extracellular matrix organization and biogenesis|up-regulation of extracellular matrix organization|upregulation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organisation|up regulation of extracellular matrix organization|positive regulation of extracellular matrix organization and biogenesis|activation of extracellular matrix organization http://purl.obolibrary.org/obo/GO_1903055 GO:1903054 biolink:BiologicalProcess negative regulation of extracellular matrix organization Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization. hp.json down-regulation of extracellular matrix organization|inhibition of extracellular matrix organisation|downregulation of extracellular matrix organisation|downregulation of extracellular matrix organization and biogenesis|down regulation of extracellular matrix organization|down regulation of extracellular matrix organization and biogenesis|downregulation of extracellular matrix organization|inhibition of extracellular matrix organization|negative regulation of extracellular matrix organization and biogenesis|down-regulation of extracellular matrix organization and biogenesis|negative regulation of extracellular matrix organisation|down-regulation of extracellular matrix organisation|inhibition of extracellular matrix organization and biogenesis|down regulation of extracellular matrix organisation http://purl.obolibrary.org/obo/GO_1903054 UBERON:0035814 biolink:AnatomicalEntity pericardial fat The sum of epicardial and paracardial fat deposits. ZFA:0005765|SCTID:42267001 hp.json http://purl.obolibrary.org/obo/UBERON_0035814 GO:1903053 biolink:BiologicalProcess regulation of extracellular matrix organization Any process that modulates the frequency, rate or extent of extracellular matrix organization. hp.json regulation of extracellular matrix organisation|regulation of extracellular matrix organization and biogenesis http://purl.obolibrary.org/obo/GO_1903053 OBO:HsapDv_0000001 biolink:NamedThing human life cycle Temporal interval that defines human life from the prenatal stage until late adulthood. UBERON:0000104 hp.json http://purl.obolibrary.org/obo/HsapDv_0000001 OBO:HsapDv_0000002 biolink:NamedThing embryonic human stage Prenatal stage that starts with fertilization and ends with a fully formed embryo, before undergoing last development during the fetal stage. EV:0300001|FMA:72652 hp.json embryo stage|first trimester http://purl.obolibrary.org/obo/HsapDv_0000002 UBERON:0035815 biolink:AnatomicalEntity paracardial fat Fat deposits in the mediastinum outside the parietal pericardium . hp.json intrathoracic fat|intrathoracic fat http://purl.obolibrary.org/obo/UBERON_0035815 UBERON:0035818 biolink:AnatomicalEntity visceral fat Any fat deposit surrounding a visceral organ. hp.json http://purl.obolibrary.org/obo/UBERON_0035818 OBO:HsapDv_0000000 biolink:NamedThing human life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. UBERON:0000105 hp.json developmental stage|stage http://purl.obolibrary.org/obo/HsapDv_0000000 UBERON:0035819 biolink:AnatomicalEntity abdominopelvic cavity The part of the ventral body cavity that is within the abdominal segment of the trunk, which encompasses the abdomen proper plus pelvic cavity. FMA:12267|Wikipedia:Abdominopelvic_cavity hp.json cavitas abdominis et pelvis http://purl.obolibrary.org/obo/UBERON_0035819 UBERON:0008242 biolink:AnatomicalEntity lower back muscle A muscle of back that is part of a lower back. MA:0000502|EMAPA:37262 hp.json http://purl.obolibrary.org/obo/UBERON_0008242 UBERON:0008243 biolink:AnatomicalEntity upper back muscle A muscle of back that is part of a dorsal thoracic segment of trunk. EMAPA:37261|MA:0000508|SCTID:305071003 hp.json http://purl.obolibrary.org/obo/UBERON_0008243 OBO:cl#has_low_plasma_membrane_amount biolink:NamedThing has_low_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). hp.json http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount GO:2000610 biolink:NamedThing negative regulation of thyroid hormone generation hp.json http://purl.obolibrary.org/obo/GO_2000610 GO:2000611 biolink:NamedThing positive regulation of thyroid hormone generation hp.json http://purl.obolibrary.org/obo/GO_2000611 GO:1903058 biolink:BiologicalProcess positive regulation of melanosome organization Any process that activates or increases the frequency, rate or extent of melanosome organization. hp.json up-regulation of melanosome organisation|upregulation of melanosome organization|activation of melanosome organization and biogenesis|upregulation of melanosome organization and biogenesis|up regulation of melanosome organisation|positive regulation of melanosome organisation|activation of melanosome organisation|positive regulation of melanosome organization and biogenesis|up-regulation of melanosome organization|up regulation of melanosome organization and biogenesis|upregulation of melanosome organisation|up regulation of melanosome organization|up-regulation of melanosome organization and biogenesis|activation of melanosome organization http://purl.obolibrary.org/obo/GO_1903058 GO:1903057 biolink:BiologicalProcess negative regulation of melanosome organization Any process that stops, prevents or reduces the frequency, rate or extent of melanosome organization. hp.json down-regulation of melanosome organization|downregulation of melanosome organisation|down-regulation of melanosome organization and biogenesis|negative regulation of melanosome organization and biogenesis|down regulation of melanosome organization|inhibition of melanosome organization and biogenesis|inhibition of melanosome organization|downregulation of melanosome organization|down-regulation of melanosome organisation|negative regulation of melanosome organisation|downregulation of melanosome organization and biogenesis|down regulation of melanosome organisation|down regulation of melanosome organization and biogenesis|inhibition of melanosome organisation http://purl.obolibrary.org/obo/GO_1903057 UBERON:0035831 biolink:AnatomicalEntity costal diaphragm The domain of the diaphragm that is a thin domed sheet of muscle composed of a radial array of myofibers extending laterally from the ribs and medially to a central tendon. FMA:58277 hp.json pars costalis diaphragmatis|costal part of diaphragm http://purl.obolibrary.org/obo/UBERON_0035831 UBERON:0011878 biolink:AnatomicalEntity muscle layer of esophagus A muscle layer that is part of a wall of esophagus. FMA:62998 hp.json tunica muscularis esophagi|muscular layer of oesophagus|muscle coat of esophagus|muscular coat of oesophagus|tela muscularis (oesophagus)|tunica muscularis oesophageae http://purl.obolibrary.org/obo/UBERON_0011878 UBERON:0011877 biolink:AnatomicalEntity margin of tongue The lateral border that separates the dorsum from the inferior surface of the tongue on each side, the two borders meeting anteriorly at the apex.. FMA:54650 hp.json margo linguae|tongue margin http://purl.obolibrary.org/obo/UBERON_0011877 UBERON:0035825 biolink:AnatomicalEntity left adrenal gland cortex The thick outer layer of the adrenal gland that is in the left side of the abdomen. FMA:69089 hp.json cortex of left suprarenal gland|left adrenal cortex|cortex of left adrenal gland http://purl.obolibrary.org/obo/UBERON_0035825 UBERON:0011875 biolink:AnatomicalEntity ligament of sternoclavicular joint A skeletal ligament that is part of a sternoclavicular joint. FMA:63980 hp.json ligamentum sternoclavicularis|sternoclavicular joint ligament http://purl.obolibrary.org/obo/UBERON_0011875 UBERON:0035827 biolink:AnatomicalEntity right adrenal gland cortex The thick outer layer of the adrenal gland that is in the right side of the abdomen. FMA:69088 hp.json cortex of right suprarenal gland|cortex of right adrenal gland|right adrenal cortex http://purl.obolibrary.org/obo/UBERON_0035827 UBERON:0035826 biolink:AnatomicalEntity left adrenal gland medulla The adrenal gland medulla that is in the left side of the abdomen. FMA:69092 hp.json medulla of left suprarenal gland|left adrenal medulla|medulla of left adrenal gland http://purl.obolibrary.org/obo/UBERON_0035826 UBERON:0035828 biolink:AnatomicalEntity right adrenal gland medulla The adrenal gland medulla that is in the right side of the abdomen. FMA:69091 hp.json right adrenal medulla|medulla of right suprarenal gland|medulla of right adrenal gland http://purl.obolibrary.org/obo/UBERON_0035828 UBERON:0008230 biolink:AnatomicalEntity tibialis Either of two muscles of the calf of the leg. MA:0002425|BTO:0000864|NCIT:C53076|EMAPA:35867|UMLS:C1710422 hp.json tibialis muscle http://purl.obolibrary.org/obo/UBERON_0008230 UBERON:0008231 biolink:AnatomicalEntity dorsal thoracic segment of trunk Subdivision of thorax, which in humans is the posterior part of the thorax and is demarcated from the chest by the external surface of the posterolateral part of the rib cage and the anterior surface of the thoracic vertebral column; together with the chest, it constitutes the thorax. MA:0000028|FMA:24217|SCTID:362666008|EMAPA:37234 hp.json thoracic back|thoracic part of back|upper back|dorsum of thorax|posterior part of thorax|back of thorax http://purl.obolibrary.org/obo/UBERON_0008231 GO:0002468 biolink:BiologicalProcess dendritic cell antigen processing and presentation The process in which a dendritic cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. hp.json http://purl.obolibrary.org/obo/GO_0002468 GO:0002469 biolink:BiologicalProcess myeloid dendritic cell antigen processing and presentation The process in which a myeloid dendritic cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. hp.json http://purl.obolibrary.org/obo/GO_0002469 GO:0002460 biolink:BiologicalProcess adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. hp.json http://purl.obolibrary.org/obo/GO_0002460 CHEBI:90318 biolink:ChemicalSubstance EC 6.4.1.1 (pyruvate carboxylase) inhibitor An EC 6.4.1.* (carboxylase) inhibitor that interferes with the action of pyruvate carboxylase (EC 6.4.1.1). Wikipedia:Pyruvate_carboxylase hp.json pyruvic carboxylase inhibitors|pyruvate carboxylase inhibitor|pyruvate:carbon-dioxide ligase (ADP-forming) inhibitors|EC 6.4.1.1 inhibitor|pyruvate carboxylase (EC 6.4.1.1) inhibitor|EC 6.4.1.1 inhibitors|pyruvate carboxylase (EC 6.4.1.1) inhibitors|EC 6.4.1.1 (pyruvate carboxylase) inhibitors|pyruvate:carbon-dioxide ligase (ADP-forming) inhibitor|pyruvate carboxylase inhibitors|pyruvic carboxylase inhibitor http://purl.obolibrary.org/obo/CHEBI_90318 3_STAR CHEBI:53368 biolink:ChemicalSubstance ionic macromolecule A macromolecule containing ionic groups. hp.json ionic polymer|polyionic macromolecule http://purl.obolibrary.org/obo/CHEBI_53368 3_STAR GO:0051402 biolink:BiologicalProcess neuron apoptotic process Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. hp.json neuronal cell apoptosis|apoptosis of neurons|programmed cell death of neuronal cells by apoptosis|programmed cell death, neuronal cells|programmed cell death of neurons by apoptosis|programmed cell death, neurons|apoptosis of neuronal cells|neuron apoptosis|neuron programmed cell death by apoptosis|neuronal cell programmed cell death by apoptosis http://purl.obolibrary.org/obo/GO_0051402 GO:0002471 biolink:BiologicalProcess monocyte antigen processing and presentation The process in which a monocyte expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. hp.json http://purl.obolibrary.org/obo/GO_0002471 GO:0002472 biolink:BiologicalProcess macrophage antigen processing and presentation The process in which a macrophage expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. hp.json http://purl.obolibrary.org/obo/GO_0002472 HP:0011197 biolink:PhenotypicFeature EEG with focal spike waves EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. UMLS:C4023477 hp.json http://purl.obolibrary.org/obo/HP_0011197 GO:0002446 biolink:BiologicalProcess neutrophil mediated immunity Any process involved in the carrying out of an immune response by a neutrophil. hp.json http://purl.obolibrary.org/obo/GO_0002446 HP:0011198 biolink:PhenotypicFeature EEG with generalized epileptiform discharges EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. UMLS:C4023476 hp.json EEG with generalised epileptiform discharges http://purl.obolibrary.org/obo/HP_0011198 HP:0011199 biolink:PhenotypicFeature EEG with generalized sharp slow waves EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. UMLS:C4023475 hp.json EEG with generalised sharp slow waves http://purl.obolibrary.org/obo/HP_0011199 GO:0002442 biolink:BiologicalProcess serotonin secretion involved in inflammatory response The regulated release of serotonin by a cell as part of an inflammatory response. hp.json serotonin secretion involved in acute inflammatory response|serotonin release involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002442 GO:0002443 biolink:BiologicalProcess leukocyte mediated immunity Any process involved in the carrying out of an immune response by a leukocyte. hp.json leucocyte immune effector process|leucocyte mediated immunity|immune cell mediated immunity|leukocyte immune effector process|immune cell effector process|cellular immune response|cell-mediated immune response http://purl.obolibrary.org/obo/GO_0002443 GO:0002444 biolink:BiologicalProcess myeloid leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. hp.json myeloid leukocyte immune effector process|myeloid leucocyte immune effector process|myeloid leucocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002444 HP:0011190 biolink:PhenotypicFeature Uni- and bilateral multifocal epileptiform discharges Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere. UMLS:C4023484 hp.json http://purl.obolibrary.org/obo/HP_0011190 HP:0011191 biolink:PhenotypicFeature Unilateral multifocal epileptiform discharges Epileptiform discharges being identified at multiple locations in one hemisphere. UMLS:C4023483 hp.json http://purl.obolibrary.org/obo/HP_0011191 GO:0002440 biolink:BiologicalProcess production of molecular mediator of immune response The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. hp.json production of cellular mediator of immune response http://purl.obolibrary.org/obo/GO_0002440 gocheck_do_not_annotate HP:0011192 biolink:PhenotypicFeature Polymorphic focal epileptiform discharges Focal epileptiform discharges of different shapes and frequencies. UMLS:C4023482 hp.json http://purl.obolibrary.org/obo/HP_0011192 HP:0011193 biolink:PhenotypicFeature EEG with focal spikes EEG with focal sharp transient waves of a duration less than 80 msec. UMLS:C4023481 hp.json http://purl.obolibrary.org/obo/HP_0011193 CHEBI:28384 biolink:ChemicalSubstance vitamin K Any member of a group of fat-soluble 2-methyl-1,4-napthoquinones that exhibit biological activity against vitamin K deficiency. Vitamin K is required for the synthesis of prothrombin and certain other blood coagulation factors. CAS:12001-79-5|Wikipedia:Vitamin_K|CAS:12001-79-5|PMID:34109217|PMID:33255760|KEGG:C01628|PMID:26413183|MetaCyc:CPD-11501 hp.json vitamin K vitamer|vitamine K|vitamin K vitamers|vitamins K|Vitamin K http://purl.obolibrary.org/obo/CHEBI_28384 3_STAR CHEBI:28383 biolink:ChemicalSubstance alpha,omega-dicarboxylic acid KEGG:C04025 hp.json alpha,omega-Dicarboxylic acid|alpha(omega)-Dicarboxylic acid|alpha,omega-dicarboxylic acids http://purl.obolibrary.org/obo/CHEBI_28383 3_STAR HP:0011194 biolink:PhenotypicFeature EEG with series of focal spikes Focal spikes occurring for several seconds. UMLS:C4023480 hp.json http://purl.obolibrary.org/obo/HP_0011194 HP:0011195 biolink:PhenotypicFeature EEG with focal sharp slow waves EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. UMLS:C4023479 hp.json http://purl.obolibrary.org/obo/HP_0011195 HP:0011196 biolink:PhenotypicFeature EEG with focal sharp waves EEG with focal sharp transient waves of a duration between 80 and 200 msec. UMLS:C4023478 hp.json http://purl.obolibrary.org/obo/HP_0011196 GO:0002449 biolink:BiologicalProcess lymphocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. hp.json cellular immune response|cell-mediated immunity http://purl.obolibrary.org/obo/GO_0002449 HP:0011186 biolink:PhenotypicFeature Focal epileptiform discharges with limited propagation to contralateral hemisphere Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization. UMLS:C4023488 hp.json http://purl.obolibrary.org/obo/HP_0011186 GO:0002456 biolink:BiologicalProcess T cell mediated immunity Any process involved in the carrying out of an immune response by a T cell. hp.json cellular immune response|T-cell mediated immunity|cell-mediated immunity|T lymphocyte mediated immunity|T-lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002456 HP:0011187 biolink:PhenotypicFeature Focal EEG discharges with propagation to ipsilateral hemisphere Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain. UMLS:C4023487 hp.json http://purl.obolibrary.org/obo/HP_0011187 GO:0002457 biolink:BiologicalProcess T cell antigen processing and presentation The process in which a T cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. hp.json T-cell antigen processing and presentation|T lymphocyte antigen processing and presentation|T-lymphocyte antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002457 HP:0011188 biolink:PhenotypicFeature Focal EEG discharges with secondary generalization Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. UMLS:C4023486 hp.json Focal EEG discharges with secondary generalisation http://purl.obolibrary.org/obo/HP_0011188 HP:0011189 biolink:PhenotypicFeature Bilateral multifocal epileptiform discharges Epileptiform discharges being identified at multiple locations in both hemispheres. UMLS:C4023485 hp.json http://purl.obolibrary.org/obo/HP_0011189 HP:0011180 biolink:PhenotypicFeature Partial beta-EEG EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz). UMLS:C4023492 hp.json http://purl.obolibrary.org/obo/HP_0011180 HP:0011181 biolink:PhenotypicFeature Low voltage EEG EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz). UMLS:C1851759 hp.json http://purl.obolibrary.org/obo/HP_0011181 HP:0011182 biolink:PhenotypicFeature Interictal epileptiform activity Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. UMLS:C4023491 hp.json Epileptiform EEG discharges http://purl.obolibrary.org/obo/HP_0011182 HP:0011183 biolink:PhenotypicFeature EEG with hyperventilation-induced focal epileptiform discharges Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). UMLS:C4023490 hp.json http://purl.obolibrary.org/obo/HP_0011183 HP:0011184 biolink:PhenotypicFeature EEG with hyperventilation-induced generalized epileptiform discharges Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). UMLS:C4023489 hp.json EEG with hyperventilation-induced generalised epileptiform discharges http://purl.obolibrary.org/obo/HP_0011184 HP:0011185 biolink:PhenotypicFeature EEG with focal epileptiform discharges EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). UMLS:C4021199 hp.json Focal EEG Abnormality http://purl.obolibrary.org/obo/HP_0011185 GO:2000668 biolink:BiologicalProcess regulation of dendritic cell apoptotic process Any process that modulates the frequency, rate or extent of dendritic cell apoptotic process. hp.json regulation of dendritic cell apoptosis http://purl.obolibrary.org/obo/GO_2000668 GO:2000669 biolink:BiologicalProcess negative regulation of dendritic cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell apoptotic process. hp.json negative regulation of dendritic cell apoptosis http://purl.obolibrary.org/obo/GO_2000669 UBERON:0008307 biolink:AnatomicalEntity heart endothelium An endothelium that is part of a heart [Automatically generated definition]. BTO:0004293 hp.json cardiac endothelium http://purl.obolibrary.org/obo/UBERON_0008307 GO:1905606 biolink:BiologicalProcess regulation of presynapse assembly Any process that modulates the frequency, rate or extent of presynapse assembly. hp.json regulation of presynaptic terminal assembly|regulation of presynapse biogenesis http://purl.obolibrary.org/obo/GO_1905606 goslim_synapse GO:1905607 biolink:BiologicalProcess negative regulation of presynapse assembly Any process that stops, prevents or reduces the frequency, rate or extent of presynapse assembly. hp.json down-regulation of presynaptic terminal assembly|inhibition of presynapse biogenesis|negative regulation of presynaptic terminal assembly|downregulation of presynapse biogenesis|down regulation of presynaptic terminal assembly|down-regulation of presynapse assembly|inhibition of presynaptic terminal assembly|downregulation of presynaptic terminal assembly|down regulation of presynapse assembly|inhibition of presynapse assembly|negative regulation of presynapse biogenesis|down-regulation of presynapse biogenesis|downregulation of presynapse assembly|down regulation of presynapse biogenesis http://purl.obolibrary.org/obo/GO_1905607 GO:1905608 biolink:BiologicalProcess positive regulation of presynapse assembly Any process that activates or increases the frequency, rate or extent of presynapse assembly. hp.json activation of presynapse assembly|upregulation of presynaptic terminal assembly|up-regulation of presynapse biogenesis|upregulation of presynapse assembly|up regulation of presynapse biogenesis|activation of presynapse biogenesis|positive regulation of presynapse biogenesis|up-regulation of presynaptic terminal assembly|up regulation of presynaptic terminal assembly|upregulation of presynapse biogenesis|up-regulation of presynapse assembly|activation of presynaptic terminal assembly|positive regulation of presynaptic terminal assembly|up regulation of presynapse assembly http://purl.obolibrary.org/obo/GO_1905608 GO:0051445 biolink:BiologicalProcess regulation of meiotic cell cycle Any process that modulates the rate or extent of progression through the meiotic cell cycle. hp.json modulation of meiotic cell cycle progression|regulation of meiotic cell cycle progression|regulation of progression through meiotic cell cycle|meiotic cell cycle regulator|meiotic cell cycle modulation|meiotic cell cycle regulation http://purl.obolibrary.org/obo/GO_0051445 GO:0051446 biolink:BiologicalProcess positive regulation of meiotic cell cycle Any process that activates or increases the frequency, rate or extent of progression through the meiotic cell cycle. hp.json up regulation of progression through meiotic cell cycle|stimulation of progression through meiotic cell cycle|positive regulation of progression through meiotic cell cycle|positive regulation of meiotic cell cycle progression|up-regulation of progression through meiotic cell cycle|activation of progression through meiotic cell cycle|upregulation of progression through meiotic cell cycle http://purl.obolibrary.org/obo/GO_0051446 GO:0051447 biolink:BiologicalProcess negative regulation of meiotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the meiotic cell cycle. hp.json negative regulation of meiotic cell cycle progression|negative regulation of progression through meiotic cell cycle|downregulation of progression through meiotic cell cycle|down regulation of progression through meiotic cell cycle|inhibition of progression through meiotic cell cycle|down-regulation of progression through meiotic cell cycle http://purl.obolibrary.org/obo/GO_0051447 UBERON:0011932 biolink:AnatomicalEntity pilosebaceous unit An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle. FMA:70661|EMAPA:36582 hp.json pilo-sebaceous unit|fabrica pilosebacea|pilo-sebaceous apparatus|pilosebaceous gland|pilosebaceous apparatus http://purl.obolibrary.org/obo/UBERON_0011932 pheno_slim UBERON:0011931 biolink:AnatomicalEntity nasal hair Hair in the nose. FMA:53670 hp.json hair of vestibular part of nose|nose hair|hair of nose http://purl.obolibrary.org/obo/UBERON_0011931 pheno_slim GO:2000670 biolink:BiologicalProcess positive regulation of dendritic cell apoptotic process Any process that activates or increases the frequency, rate or extent of dendritic cell apoptotic process. hp.json positive regulation of dendritic cell apoptosis http://purl.obolibrary.org/obo/GO_2000670 GO:2000671 biolink:BiologicalProcess regulation of motor neuron apoptotic process Any process that modulates the frequency, rate or extent of motor neuron apoptotic process. hp.json regulation of motor neuron apoptosis|regulation of motoneuron apoptosis http://purl.obolibrary.org/obo/GO_2000671 PR:P15702 biolink:Protein leukosialin (mouse) A leukosialin that is encoded in the genome of mouse. UniProtKB:P15702 hp.json CD43 (mouse)|sialophorin (mouse)|B-cell differentiation antigen LP-3 (mouse)|mSPN|lymphocyte antigen 48 (mouse)|leukocyte sialoglycoprotein (mouse)|Spn|Ly-48 (mouse) http://purl.obolibrary.org/obo/PR_P15702 UBERON:0011930 biolink:AnatomicalEntity preganglionic parasympathetic fiber A cholinergic axonal fibers projecting from the CNS to a parasympathetic ganglion. Wikipedia:Preganglionic_fibers hp.json parasympathetic preganglionic fiber http://purl.obolibrary.org/obo/UBERON_0011930 GO:2000672 biolink:BiologicalProcess negative regulation of motor neuron apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of motor neuron apoptotic process. hp.json negative regulation of motor neuron apoptosis|negative regulation of motoneuron apoptosis http://purl.obolibrary.org/obo/GO_2000672 GO:2000673 biolink:BiologicalProcess positive regulation of motor neuron apoptotic process Any process that activates or increases the frequency, rate or extent of motor neuron apoptotic process. hp.json positive regulation of motor neuron apoptosis|positive regulation of motoneuron apoptosis http://purl.obolibrary.org/obo/GO_2000673 CHEBI:53309 biolink:ChemicalSubstance polyanionic macromolecule A polymer carrying multiple negative charges. hp.json polyanions|polyanion http://purl.obolibrary.org/obo/CHEBI_53309 3_STAR UBERON:0011922 biolink:AnatomicalEntity cochlear basement membrane The the continuous basement membrane found within the membranous labyrinth of the cochlea, known to extend from the limbus, down to the inner sulcus, across the basilar membrane, up to the external sulcus to the spiral prominence and radiating into the spiral ligament ensheathing the root cell processes. EMAPA:37830 hp.json cochlea basement membrane|basement membrane of cochlear labyrinth http://purl.obolibrary.org/obo/UBERON_0011922 pheno_slim UBERON:0011921 biolink:AnatomicalEntity connecting stalk blood islands EHDAA2:0003242 hp.json blood island of umbilical vesicle|insula sanguinea vesiculae umbilicalis http://purl.obolibrary.org/obo/UBERON_0011921 UBERON:0011925 biolink:AnatomicalEntity preganglionic autonomic fiber Nerve fibers which project from the central nervous system to autonomic ganglia. In the sympathetic division most preganglionic fibers originate with neurons in the intermediolateral column of the spinal cord, exit via ventral roots from upper thoracic through lower lumbar segments, and project to the paravertebral ganglia; there they either terminate in synapses or continue through the splanchnic nerves to the prevertebral ganglia. In the parasympathetic division the fibers originate in neurons of the brain stem and sacral spinal cord. In both divisions the principal transmitter is acetylcholine but peptide cotransmitters may also be released. FMA:5923|Wikipedia:Preganglionic_nerve_fibers|MESH:D001339|NCIT:C12624 hp.json preganglionic autonomic fibre|preganglionic nerve fiber http://purl.obolibrary.org/obo/UBERON_0011925 GO:1905627 biolink:BiologicalProcess regulation of serotonin biosynthetic process Any process that modulates the frequency, rate or extent of serotonin biosynthetic process. hp.json regulation of serotonin anabolism|regulation of serotonin synthesis|regulation of serotonin formation|regulation of serotonin biosynthesis http://purl.obolibrary.org/obo/GO_1905627 GO:1905628 biolink:BiologicalProcess negative regulation of serotonin biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of serotonin biosynthetic process. hp.json inhibition of serotonin biosynthetic process|inhibition of serotonin biosynthesis|negative regulation of serotonin biosynthesis|down-regulation of serotonin biosynthetic process|down-regulation of serotonin biosynthesis|down regulation of serotonin anabolism|negative regulation of serotonin synthesis|down-regulation of serotonin synthesis|down regulation of serotonin synthesis|negative regulation of serotonin formation|down-regulation of serotonin formation|downregulation of serotonin anabolism|inhibition of serotonin anabolism|down regulation of serotonin formation|downregulation of serotonin biosynthetic process|downregulation of serotonin biosynthesis|downregulation of serotonin synthesis|inhibition of serotonin synthesis|downregulation of serotonin formation|inhibition of serotonin formation|down regulation of serotonin biosynthetic process|down regulation of serotonin biosynthesis|negative regulation of serotonin anabolism|down-regulation of serotonin anabolism http://purl.obolibrary.org/obo/GO_1905628 GO:1905629 biolink:BiologicalProcess positive regulation of serotonin biosynthetic process Any process that activates or increases the frequency, rate or extent of serotonin biosynthetic process. hp.json upregulation of serotonin anabolism|positive regulation of serotonin synthesis|up regulation of serotonin formation|activation of serotonin formation|upregulation of serotonin biosynthesis|upregulation of serotonin biosynthetic process|positive regulation of serotonin formation|upregulation of serotonin synthesis|positive regulation of serotonin biosynthesis|upregulation of serotonin formation|up-regulation of serotonin anabolism|up regulation of serotonin biosynthetic process|up regulation of serotonin biosynthesis|up regulation of serotonin anabolism|up-regulation of serotonin biosynthetic process|activation of serotonin anabolism|up-regulation of serotonin biosynthesis|activation of serotonin biosynthesis|activation of serotonin biosynthetic process|up-regulation of serotonin synthesis|positive regulation of serotonin anabolism|up-regulation of serotonin formation|up regulation of serotonin synthesis|activation of serotonin synthesis http://purl.obolibrary.org/obo/GO_1905629 UBERON:0011927 biolink:AnatomicalEntity preganglionic sympathetic fiber A cholinergic axonal fiber projecting from the CNS to a sympathetic ganglion. SCTID:323517007 hp.json sympathetic preganglionic fiber http://purl.obolibrary.org/obo/UBERON_0011927 GO:0051450 biolink:BiologicalProcess myoblast proliferation The multiplication or reproduction of myoblasts, resulting in the expansion of a myoblast cell population. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. hp.json http://purl.obolibrary.org/obo/GO_0051450 GO:0002407 biolink:BiologicalProcess dendritic cell chemotaxis The movement of a dendritic cell in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0002407 GO:0002408 biolink:BiologicalProcess myeloid dendritic cell chemotaxis The movement of a myeloid dendritic cell in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0002408 GO:0051451 biolink:BiologicalProcess myoblast migration The orderly movement of a myoblast from one site to another, often during the development of a multicellular organism. A myoblast is a cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. hp.json http://purl.obolibrary.org/obo/GO_0051451 CHEBI:28358 biolink:ChemicalSubstance rac-lactic acid A racemate comprising equimolar amounts of (R)- and (S)-lactic acid. CAS:50-21-5|CAS:50-21-5|DrugBank:DB04398|PMID:29079364|KEGG:C01432|PMID:17190852|KEGG:D00111|Beilstein:1209341|Reaxys:1209341|LIPID_MAPS_instance:LMFA01050002|Wikipedia:Lactic_acid|CAS:50-21-5 hp.json alpha-hydroxypropanoic acid|(+-)-2-hydroxypropanoic acid|2-Hydroxypropionic acid|alpha-hydroxypropionic acid|E270|Milchsaeure|Lactic acid|rac-2-hydroxypropanoic acid|2-Hydroxypropanoic acid http://purl.obolibrary.org/obo/CHEBI_28358 3_STAR GO:0051469 biolink:BiologicalProcess vesicle fusion with vacuole The joining of the lipid bilayer membrane around a vesicle with the lipid bilayer membrane around the vacuole. hp.json heterotypic vacuole fusion (non-autophagic)|heterotypic vacuole fusion, non-autophagic http://purl.obolibrary.org/obo/GO_0051469 GO:2000690 biolink:BiologicalProcess regulation of cardiac muscle cell myoblast differentiation Any process that modulates the frequency, rate or extent of cardiac muscle cell myoblast differentiation. hp.json regulation of cardiac myoblast differentiation|regulation of myocardial precursor cell differentiation http://purl.obolibrary.org/obo/GO_2000690 GO:2000691 biolink:BiologicalProcess negative regulation of cardiac muscle cell myoblast differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell myoblast differentiation. hp.json negative regulation of myocardial precursor cell differentiation|negative regulation of cardiac myoblast differentiation http://purl.obolibrary.org/obo/GO_2000691 GO:1905632 biolink:BiologicalProcess protein localization to euchromatin A process in which a protein is transported to, or maintained in, a location within an euchromatin. hp.json protein localisation in euchromatin|protein localization in euchromatin|protein localisation to euchromatin http://purl.obolibrary.org/obo/GO_1905632 GO:1905633 biolink:BiologicalProcess establishment of protein localization to euchromatin The directed movement of a protein to a specific location in an euchromatin. hp.json establishment of protein localisation in euchromatin|establishment of protein localization in euchromatin|establishment of protein localisation to euchromatin http://purl.obolibrary.org/obo/GO_1905633 GO:1905634 biolink:BiologicalProcess regulation of protein localization to chromatin Any process that modulates the frequency, rate or extent of protein localization to chromatin. hp.json regulation of protein localisation to chromatin http://purl.obolibrary.org/obo/GO_1905634 UBERON:0011919 biolink:AnatomicalEntity yolk sac blood island Masses of developing blood cells attached to endothelium in the yolk sac. EMAPA:16115|EHDAA2:0000177 hp.json visceral yolk sac blood island|yolk sac blood islands http://purl.obolibrary.org/obo/UBERON_0011919 pheno_slim UBERON:0011918 biolink:AnatomicalEntity line of Schwalbe The thickened peripheral margin of the vitreous membrane of the cornea. EMAPA:37895|FMA:58422 hp.json Schwalbe's line|Schwalbe's ring|Schwalbe line http://purl.obolibrary.org/obo/UBERON_0011918 pheno_slim CHEBI:16385 biolink:ChemicalSubstance organic sulfide Compounds having the structure RSR (R =/= H). Such compounds were once called thioethers. KEGG:C00297 hp.json organic sulfides|thioethers|sulfides|Sulfide|Thioether|RSR http://purl.obolibrary.org/obo/CHEBI_16385 3_STAR HP:0011131 biolink:PhenotypicFeature Perianal dermatitis The presence of a rash (change of color and texture) of the perianal skin. UMLS:C0240705 hp.json Perianal rash http://purl.obolibrary.org/obo/HP_0011131 HP:0011132 biolink:PhenotypicFeature Chronic furunculosis A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. UMLS:C4023521 hp.json http://purl.obolibrary.org/obo/HP_0011132 HP:0011133 biolink:PhenotypicFeature Increased sensitivity to ionizing radiation An abnormally increased sensitivity to the effects of ionizing radiation. UMLS:C4021850 hp.json Increased sensitivity to ionising radiation http://purl.obolibrary.org/obo/HP_0011133 HP:0011134 biolink:PhenotypicFeature Low-grade fever Mild fever that does not exceed 38.5 degrees centigrade. SNOMEDCT_US:304213008|UMLS:C0239574 hp.json Mild fever|Low-grade fever http://purl.obolibrary.org/obo/HP_0011134 HP:0011135 biolink:PhenotypicFeature Aplasia/Hypoplasia of the sweat glands Absence or developmental hypoplasia of the sweat glands. UMLS:C4023520 hp.json Absent/underdeveloped sweat glands|Absent/small sweat glands http://purl.obolibrary.org/obo/HP_0011135 HP:0011136 biolink:PhenotypicFeature Aplasia of the sweat glands Absence of the sweat glands. UMLS:C2677485 hp.json Absent sweat glands|Lack of sweat glands http://purl.obolibrary.org/obo/HP_0011136 HP:0011137 biolink:PhenotypicFeature Non-pruritic urticaria Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus. UMLS:C4023519 hp.json Non-itchy hives http://purl.obolibrary.org/obo/HP_0011137 HP:0011138 biolink:PhenotypicFeature Abnormality of skin adnexa morphology An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. UMLS:C4023518 hp.json Abnormal skin appendage http://purl.obolibrary.org/obo/HP_0011138 HP:0011130 biolink:PhenotypicFeature Abnormal renal calyx morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. UMLS:C4023522 hp.json Abnormality of renal calyx morphology http://purl.obolibrary.org/obo/HP_0011130 HP:0011139 biolink:PhenotypicFeature Gastric duplication Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach. UMLS:C4021201 hp.json Gastric duplication cyst http://purl.obolibrary.org/obo/HP_0011139 HP:0011120 biolink:PhenotypicFeature Concave nasal ridge Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. UMLS:C0264169|SNOMEDCT_US:710234009 hp.json Saddle nose|Saddle nose deformity|Boxer's nose deformity|Boxer's nasal deformity|Ski jump nose|Concave dorsum of nose|Saddle shaped nasal dorsum|Concave nasal dorsum http://purl.obolibrary.org/obo/HP_0011120 hposlim_core HP:0011121 biolink:PhenotypicFeature Abnormality of skin morphology Any morphological abnormality of the skin. Fyler:4133|UMLS:C4023528 hp.json Abnormal skin structure|Abnormal skin morphology http://purl.obolibrary.org/obo/HP_0011121 HP:0011122 biolink:PhenotypicFeature Abnormality of skin physiology Any abnormality of the physiological function of the skin. UMLS:C4023527 hp.json Abnormality of skin physiology http://purl.obolibrary.org/obo/HP_0011122 HP:0011123 biolink:PhenotypicFeature Inflammatory abnormality of the skin The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. MP:0004947|UMLS:C0011603|SNOMEDCT_US:703938007|MSH:D003872|UMLS:C3875321 hp.json Dermatitis|Inflammatory abnormality of the skin|Abnormal tendency to infections of the skin|Skin inflammation|Inflammatory skin disease http://purl.obolibrary.org/obo/HP_0011123 HP:0011124 biolink:PhenotypicFeature Abnormal epidermal morphology An abnormality of the morphology of the epidermis. UMLS:C4023526 hp.json Abnormality of epidermal morphology http://purl.obolibrary.org/obo/HP_0011124 HP:0011125 biolink:PhenotypicFeature Abnormality of dermal melanosomes An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). UMLS:C4023525 hp.json http://purl.obolibrary.org/obo/HP_0011125 HP:0011126 biolink:PhenotypicFeature Nephroptosis A significant descent of the kidney as the patient moves from the supine to the erect position. UMLS:C1384594 hp.json Renal ptosis|Floating kidney http://purl.obolibrary.org/obo/HP_0011126 HP:0011127 biolink:PhenotypicFeature Perioral eczema A type of eczema that occurs in the lips and perioral area. UMLS:C1396126 hp.json Eczema around the mouth http://purl.obolibrary.org/obo/HP_0011127 HP:0011128 biolink:PhenotypicFeature Acute esophageal necrosis A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction. UMLS:C4023524 hp.json http://purl.obolibrary.org/obo/HP_0011128 ENVO:01001110 biolink:NamedThing ecosystem hp.json http://purl.obolibrary.org/obo/ENVO_01001110 HP:0011129 biolink:PhenotypicFeature Bilateral fetal pyelectasis A bilateral form of fetal pyelectasis. UMLS:C4023523 hp.json Bilateral foetal pyelectasis|Bilateral foetal pyelectasia|Bilateral fetal pyelectasia http://purl.obolibrary.org/obo/HP_0011129 HP:0011110 biolink:PhenotypicFeature Recurrent tonsillitis Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. UMLS:C0040425|MSH:D014069|SNOMEDCT_US:90176007 hp.json Recurrent inflammation of tonsils http://purl.obolibrary.org/obo/HP_0011110 HP:0011111 biolink:PhenotypicFeature Abnormality of immune serum protein physiology An abnormality of the concentration or function of circulating immune proteins. UMLS:C4023536 hp.json http://purl.obolibrary.org/obo/HP_0011111 HP:0011112 biolink:PhenotypicFeature Abnormality of serum cytokine level Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. UMLS:C4023535|MP:0010210 hp.json http://purl.obolibrary.org/obo/HP_0011112 HP:0011113 biolink:PhenotypicFeature Abnormality of cytokine secretion An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). UMLS:C4023534|MP:0003009 hp.json http://purl.obolibrary.org/obo/HP_0011113 HP:0011114 biolink:PhenotypicFeature Defective production of NFKB1-dependent cytokines An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. UMLS:C4023533 hp.json http://purl.obolibrary.org/obo/HP_0011114 HP:0011115 biolink:PhenotypicFeature Abnormality of chemokine secretion An abnormality in the production or cellular release of a chemokine (a class of cytokines). UMLS:C4023532 hp.json http://purl.obolibrary.org/obo/HP_0011115 HP:0011116 biolink:PhenotypicFeature Abnormality of interferon secretion An abnormality in the production or cellular release of interferons (a class of cytokines). UMLS:C4023531 hp.json http://purl.obolibrary.org/obo/HP_0011116 HP:0001789 biolink:PhenotypicFeature Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. MSH:D015160|UMLS:C0020305|SNOMEDCT_US:276508000 hp.json http://purl.obolibrary.org/obo/HP_0001789 HP:0001783 biolink:PhenotypicFeature Broad metatarsal Increased side-to-side width of a metatarsal bone. UMLS:C1842231|UMLS:C1850161 hp.json Broad metatarsals|Wide long bone of foot|Widened metatarsal shaft http://purl.obolibrary.org/obo/HP_0001783 HP:0410401 biolink:PhenotypicFeature Worse in evening Applies to a sign or symptom that is exacerbated in the evening as compared to the day. hp.json http://purl.obolibrary.org/obo/HP_0410401 HP:0410400 biolink:PhenotypicFeature Absent sebaceous glands Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts. hp.json Absence of sebaceous glands http://purl.obolibrary.org/obo/HP_0410400 HP:0001782 biolink:PhenotypicFeature Bulbous tips of toes An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. UMLS:C4025747 hp.json http://purl.obolibrary.org/obo/HP_0001782 HP:0001787 biolink:PhenotypicFeature Abnormal delivery An abnormality of the birth process. SNOMEDCT_US:274127000|UMLS:C0549629 hp.json Abnormal delivery|Delivery complication http://purl.obolibrary.org/obo/HP_0001787 HP:0001788 biolink:PhenotypicFeature Premature rupture of membranes Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. SNOMEDCT_US:237266003|UMLS:C0015944|MSH:D005322|SNOMEDCT_US:44223004 hp.json http://purl.obolibrary.org/obo/HP_0001788 HP:0001785 biolink:PhenotypicFeature Ankle swelling SNOMEDCT_US:26237000|UMLS:C0235439|SNOMEDCT_US:267039000 hp.json Ankle swelling http://purl.obolibrary.org/obo/HP_0001785 HP:0001786 biolink:PhenotypicFeature Narrow foot A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. SNOMEDCT_US:299464006|UMLS:C0576227 hp.json Slender feet|Narrow foot http://purl.obolibrary.org/obo/HP_0001786 hposlim_core HP:0011117 biolink:PhenotypicFeature Abnormality of interleukin secretion An abnormality in the production or cellular release of interleukins (a class of cytokines). UMLS:C4023530 hp.json Abnormality of IL secretion http://purl.obolibrary.org/obo/HP_0011117 HP:0011118 biolink:PhenotypicFeature Abnormality of tumor necrosis factor secretion An abnormality in the production or cellular release of tumor necrosis factor. UMLS:C4023529|MP:0008556 hp.json Abnormality of cachexin secretion|Abnormality of cachectin secretion|Abnormality of tumour necrosis factor secretion http://purl.obolibrary.org/obo/HP_0011118 HP:0011119 biolink:PhenotypicFeature Abnormality of the nasal dorsum An abnormality of the nasal dorsum, also known as the nasal ridge. UMLS:C4280332|UMLS:C4021202 hp.json Deformity of the nasal dorsum|Abnormality of the dorsum of nose|Malformation of the nasal dorsum|Malformation of the nasal ridge|Crooked dorsum of nose|Deformity of the nasal ridge|Abnormality of the nasal ridge|Abnormal morphology of dorsum of nose|Deformity of the dorsum of the nose|Crooked nasal ridge|Malformation of the dorsum of nose|Crooked nasal dorsum|Anomaly of the nasal ridge http://purl.obolibrary.org/obo/HP_0011119 HP:0001780 biolink:PhenotypicFeature Abnormality of toe An anomaly of a toe. UMLS:C2674738 hp.json Abnormality of toe|Abnormalities of the toes http://purl.obolibrary.org/obo/HP_0001780 hposlim_core HP:0011100 biolink:PhenotypicFeature Intestinal atresia An abnormal closure, or atresia of the tubular structure of the intestine. MSH:D007409|UMLS:C0021828 hp.json http://purl.obolibrary.org/obo/HP_0011100 HP:0011102 biolink:PhenotypicFeature Ileal atresia An abnormal closure, or atresia of the tubular structure of the ileum. UMLS:C0266176|SNOMEDCT_US:25896009 hp.json http://purl.obolibrary.org/obo/HP_0011102 HP:0011103 biolink:PhenotypicFeature Abnormal left ventricular outflow tract morphology An abnormality of the outflow tract of the left ventricle. SNOMEDCT_US:253545000|UMLS:C0344916 hp.json Abnormality of the left ventricular outflow tract http://purl.obolibrary.org/obo/HP_0011103 HP:0011104 biolink:PhenotypicFeature Abnormality of blood volume homeostasis An abnormality in the amount of volume occupied by intravascular blood. UMLS:C4023537 hp.json http://purl.obolibrary.org/obo/HP_0011104 HP:0011105 biolink:PhenotypicFeature Hypervolemia An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood. SNOMEDCT_US:21639008|UMLS:C0546817 hp.json Fluid overload in blood http://purl.obolibrary.org/obo/HP_0011105 HP:0001795 biolink:PhenotypicFeature Hyperconvex nail When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. UMLS:C0423807|SNOMEDCT_US:247487009 hp.json Increased nail curvature|Nail overcurvature http://purl.obolibrary.org/obo/HP_0001795 hposlim_core HP:0001792 biolink:PhenotypicFeature Small nail A nail that is diminished in length and width, i.e., underdeveloped nail. UMLS:C0263523|SNOMEDCT_US:11375002 hp.json Nail hypoplasia|Hypoplastic nails|Small nails|Hypoplastic nail|Small nail http://purl.obolibrary.org/obo/HP_0001792 HP:0001798 biolink:PhenotypicFeature Anonychia Aplasia of the nail. UMLS:C0265998|MSH:C536377|SNOMEDCT_US:23610003 hp.json Aplastic nails|Absent nails http://purl.obolibrary.org/obo/HP_0001798 hposlim_core HP:0001799 biolink:PhenotypicFeature Short nail Decreased length of nail. UMLS:C0423808|SNOMEDCT_US:247488004 hp.json Short nail|Short nails http://purl.obolibrary.org/obo/HP_0001799 hposlim_core HP:0011106 biolink:PhenotypicFeature Hypovolemia An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. UMLS:C0546884|MSH:D020896|SNOMEDCT_US:28560003 hp.json Depleted blood volume http://purl.obolibrary.org/obo/HP_0011106 HP:0011107 biolink:PhenotypicFeature Recurrent aphthous stomatitis Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. SNOMEDCT_US:110426005|SNOMEDCT_US:427617000|MSH:D013281|UMLS:C0038363|SNOMEDCT_US:426965005|UMLS:C2937365|SNOMEDCT_US:398870000 hp.json Recurrent oral aphthae|Buccal aphthous ulcers|Aphthous stomatitis|Recurrent canker sores|Recurrent aphthous ulcers http://purl.obolibrary.org/obo/HP_0011107 HP:0011108 biolink:PhenotypicFeature Recurrent sinusitis A recurrent form of sinusitis. UMLS:C4280333|SNOMEDCT_US:195788001|UMLS:C0581354 hp.json Recurrent sinus disease|Sinusitis, recurrent http://purl.obolibrary.org/obo/HP_0011108 HP:0011109 biolink:PhenotypicFeature Chronic sinusitis A chronic form of sinusitis. SNOMEDCT_US:40055000|UMLS:C0748720|UMLS:C0149516 hp.json Chronic sinus disease|Sinusitis, chronic http://purl.obolibrary.org/obo/HP_0011109 HP:0001790 biolink:PhenotypicFeature Nonimmune hydrops fetalis A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . UMLS:C0455988|SNOMEDCT_US:206538000|SNOMEDCT_US:276509008|MSH:D015160 hp.json Hydrops fetalis, nonimmune|Non-immune fetal hydrops|Hydrops fetalis, non-immune|Nonimmune hydrops|Non-immune foetal hydrops http://purl.obolibrary.org/obo/HP_0001790 HP:0001791 biolink:PhenotypicFeature Fetal ascites Accumulation of fluid in the peritoneal cavity during the fetal period. SNOMEDCT_US:363125002|UMLS:C1285291 hp.json Foetal ascites http://purl.obolibrary.org/obo/HP_0001791 HP:0011175 biolink:PhenotypicFeature Focal motor seizure with version A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. SNOMEDCT_US:246530009|UMLS:C0422846|MSH:D020938 hp.json Versive seizures|Versive seizure http://purl.obolibrary.org/obo/HP_0011175 HP:0011176 biolink:PhenotypicFeature EEG with constitutional variants An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic. UMLS:C4023496 hp.json http://purl.obolibrary.org/obo/HP_0011176 HP:0011177 biolink:PhenotypicFeature EEG with 4-5/second background activity EEG background activity at 4-5/second. UMLS:C4023495 hp.json http://purl.obolibrary.org/obo/HP_0011177 HP:0011178 biolink:PhenotypicFeature Alpha-EEG EEG dominated by diffuse alpha-waves (8-13Hz). UMLS:C4023494 hp.json http://purl.obolibrary.org/obo/HP_0011178 HP:0011179 biolink:PhenotypicFeature Beta-EEG EEG dominated by diffuse beta-waves (>13 Hz). UMLS:C4023493 hp.json Beta wave electroencephalography http://purl.obolibrary.org/obo/HP_0011179 HP:0011170 biolink:PhenotypicFeature Generalized myoclonic-atonic seizure A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. UMLS:C0393702|SNOMEDCT_US:230421008|MSH:D004831 hp.json Generalised myoclonic-atonic seizure|Myoclonic-astatic seizure|Myoclonic atonic seizures http://purl.obolibrary.org/obo/HP_0011170 HP:0011171 biolink:PhenotypicFeature Simple febrile seizure A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. UMLS:C0149886|MSH:D003294|SNOMEDCT_US:432354000 hp.json Simple fever fit|Simple febrile convulsion|Simple febrile seizures http://purl.obolibrary.org/obo/HP_0011171 HP:0011172 biolink:PhenotypicFeature Complex febrile seizure A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. UMLS:C0751057|MSH:D003294|SNOMEDCT_US:433083002 hp.json Complex fever fit|Complex febrile seizures|Complex febrile convulsion http://purl.obolibrary.org/obo/HP_0011172 HP:0011173 biolink:PhenotypicFeature Focal behavior arrest seizure A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure. UMLS:C4023498 hp.json Focal behaviour arrest seizure|Partial seizure with behaviour arrest|Hypokinetic seizures|Partial seizure with behavior arrest|Focal hypokinetic seizure|Localised seizure with behavioural arrest|Partial hypokinetic seizure|Hypokinetic seizure|Localized seizure with behavioral arrest http://purl.obolibrary.org/obo/HP_0011173 HP:0011174 biolink:PhenotypicFeature Focal hyperkinetic seizure A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. UMLS:C4023497 hp.json Localized hyperkinetic seizure|Hyperkinetic seizures|Segmental hyperkinetic seizure|Partial hyperkinetic seizure|Localised hyperkinetic seizure http://purl.obolibrary.org/obo/HP_0011174 HP:0011164 biolink:PhenotypicFeature obsolete Vegetative auras hp.json http://purl.obolibrary.org/obo/HP_0011164 HP:0011165 biolink:PhenotypicFeature Focal sensory seizure with visual features A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. UMLS:C1850765 hp.json Simple partial occipital seizures|Partial visual seizure|Visual aura|Visual auras|Focal visual seizure http://purl.obolibrary.org/obo/HP_0011165 HP:0011166 biolink:PhenotypicFeature Focal myoclonic seizure A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. UMLS:C4023501 hp.json Localised myoclonic seizure|Partial myoclonic seizure|Focal myoclonic seizures|Segmental myoclonic seizure|Localized myoclonic seizure|Local myoclonic seizures|Partial myoclonic seizures|Segmental myoclonic seizures http://purl.obolibrary.org/obo/HP_0011166 HP:0011167 biolink:PhenotypicFeature Focal tonic seizure A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. MSH:D020938|UMLS:C0752324 hp.json Localized tonic seizure|Local tonic seizures|Localised tonic seizure|Partial tonic seizures|Partial tonic seizure|Segmental tonic seizure|Focal tonic seizures http://purl.obolibrary.org/obo/HP_0011167 HP:0011168 biolink:PhenotypicFeature Focal seizure with eyelid myoclonia Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. UMLS:C4023500 hp.json Eyelid myoclonias http://purl.obolibrary.org/obo/HP_0011168 HP:0011169 biolink:PhenotypicFeature Generalized clonic seizure Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. UMLS:C4023499 hp.json Generalised clonic seizures|Generalized onset clonic seizure|Generalized-onset clonic seizure|Generalized clonic seizures|Generalised clonic seizure|Generalised onset clonic seizure|Generalised-onset clonic seizure http://purl.obolibrary.org/obo/HP_0011169 HP:0011160 biolink:PhenotypicFeature Focal sensory seizure with gustatory features A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation. MSH:D006212|UMLS:C0233766|SNOMEDCT_US:29139005 hp.json Partial gustatory seizure|Gustatory auras|Taste hallucinations|Gustatory aura|Focal gustatory seizure|Focal sensory gustatory seizure http://purl.obolibrary.org/obo/HP_0011160 HP:0011161 biolink:PhenotypicFeature Focal sensory seizure with olfactory features Seizures characterized by olfactory phenomena as its first clinical manifestation. UMLS:C4023504 hp.json Focal olfactory seizure|Olfactory aura|Partial olfactory seizure|Olfactory auras http://purl.obolibrary.org/obo/HP_0011161 HP:0011162 biolink:PhenotypicFeature obsolete Psychic auras hp.json http://purl.obolibrary.org/obo/HP_0011162 HP:0011163 biolink:PhenotypicFeature Focal sensory seizure with somatosensory features A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. UMLS:C4023502 hp.json Partial somatosensory seizure|Somatosensory auras|Somatosensory aura|Focal somatosensory seizure http://purl.obolibrary.org/obo/HP_0011163 PR:000003777 biolink:Protein adiponectin A protein that is a translation product of the human ADIPOQ gene or a 1:1 ortholog thereof. hp.json ACRP30|apM-1|gelatin-binding protein|GBP28|adipocyte complement-related 30 kDa protein|ADIPOQ|adipocyte, C1q and collagen domain-containing protein|APM1|ACDC|adipocyte-specific protein AdipoQ|30 kDa adipocyte complement-related protein|adipose most abundant gene transcript 1 protein http://purl.obolibrary.org/obo/PR_000003777 HP:0011153 biolink:PhenotypicFeature Focal motor seizure A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. MSH:D020938|SNOMEDCT_US:82401000|UMLS:C0016399|SNOMEDCT_US:128612007 hp.json Localised motor seizure|Partial motor seizures|Partial motor seizure|Segmental motor seizure|Focal motor seizures|Localized motor seizures|Localized motor seizure|Localised motor seizures http://purl.obolibrary.org/obo/HP_0011153 HP:0011154 biolink:PhenotypicFeature Focal autonomic seizure An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. UMLS:C4023509 hp.json Focal autonomic seizures http://purl.obolibrary.org/obo/HP_0011154 HP:0011155 biolink:PhenotypicFeature obsolete Focal autonomic seizures with altered responsiveness hp.json http://purl.obolibrary.org/obo/HP_0011155 HP:0011156 biolink:PhenotypicFeature obsolete Focal autonomic seizures without altered responsiveness hp.json http://purl.obolibrary.org/obo/HP_0011156 HP:0011157 biolink:PhenotypicFeature Focal sensory seizure A focal sensory seizure is a type seizure beginning with a subjective sensation. UMLS:C0236018|SNOMEDCT_US:18618006|MSH:D004827 hp.json Focal sensory seizures|Partial sensory seizure|Sensory aura http://purl.obolibrary.org/obo/HP_0011157 HP:0011158 biolink:PhenotypicFeature Focal sensory seizure with auditory features A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. UMLS:C1838063 hp.json Partial auditory seizure|Focal sensory auditory seizure|Focal auditory seizure|Auditory aura http://purl.obolibrary.org/obo/HP_0011158 HP:0011159 biolink:PhenotypicFeature Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. UMLS:C4023506 hp.json Partial seizure with epigastric sensation|Epigastric aura|Abdominal aura|Localized seizure with epigastric sensation|Epigastric auras|Localised seizure with epigastric sensation|Visceral aura http://purl.obolibrary.org/obo/HP_0011159 HP:0011150 biolink:PhenotypicFeature Myoclonic absence seizure Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. UMLS:C4023512 hp.json Myoclonic absences|Myoclonic absence http://purl.obolibrary.org/obo/HP_0011150 HP:0011151 biolink:PhenotypicFeature Atypical absence status epilepticus Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. UMLS:C4023511 hp.json Obtundation status http://purl.obolibrary.org/obo/HP_0011151 HP:0011152 biolink:PhenotypicFeature Early onset absence seizures Typical absence seizures starting before the age of 4 years. UMLS:C4023510 hp.json Early onset petit mal seizures http://purl.obolibrary.org/obo/HP_0011152 HP:0011142 biolink:PhenotypicFeature Age-related nuclear cataract A type of age-related cataract that primarily affects the nucleus of the lens. MSH:C563333|UMLS:C1832423 hp.json http://purl.obolibrary.org/obo/HP_0011142 HP:0011143 biolink:PhenotypicFeature Age-related cortical cataract A type of age-related cataract that primarily affects the cortex of the lens. UMLS:C2880562 hp.json http://purl.obolibrary.org/obo/HP_0011143 HP:0011144 biolink:PhenotypicFeature Age-related posterior subcapsular cataract A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule. UMLS:C4023517 hp.json http://purl.obolibrary.org/obo/HP_0011144 HP:0011145 biolink:PhenotypicFeature Symptomatic seizures A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. UMLS:C4023516 hp.json http://purl.obolibrary.org/obo/HP_0011145 HP:0011146 biolink:PhenotypicFeature Dialeptic seizure A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. hp.json Unknown onset behavioural arrest seizure with impairment of awareness|Unknown onset behavioral arrest seizure with impairment of awareness|Behavioral arrest seizure with impairment of awareness irrespective of onset|Behavioural arrest seizure with impairment of awareness irrespective of onset http://purl.obolibrary.org/obo/HP_0011146 HP:0011147 biolink:PhenotypicFeature Typical absence seizure A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. MSH:D004832|SNOMEDCT_US:432241000124101|SNOMEDCT_US:79631006|SNOMEDCT_US:50866000|UMLS:C0014553|SNOMEDCT_US:230413002 hp.json Typical absence|Typical absence seizures http://purl.obolibrary.org/obo/HP_0011147 HP:0011148 biolink:PhenotypicFeature obsolete Absence seizures with special features hp.json http://purl.obolibrary.org/obo/HP_0011148 HP:0011149 biolink:PhenotypicFeature Absence seizure with eyelid myoclonia An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. UMLS:C4023513 hp.json Absence seizures with eyelid myoclonia http://purl.obolibrary.org/obo/HP_0011149 HP:0011140 biolink:PhenotypicFeature Gastrointestinal duplication A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus. UMLS:C0266019|SNOMEDCT_US:33257003 hp.json GI duplication http://purl.obolibrary.org/obo/HP_0011140 HP:0011141 biolink:PhenotypicFeature Age-related cataract A type of cataract (opacification of the lens) that forms during the course of aging. UMLS:C0036646|SNOMEDCT_US:39450006 hp.json Clouding of the lens of the eye with age http://purl.obolibrary.org/obo/HP_0011141 GO:0031109 biolink:BiologicalProcess microtubule polymerization or depolymerization Assembly or disassembly of microtubules by the addition or removal of tubulin heterodimers from a microtubule. hp.json http://purl.obolibrary.org/obo/GO_0031109 GO:0021782 biolink:BiologicalProcess glial cell development The process aimed at the progression of a glial cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. hp.json http://purl.obolibrary.org/obo/GO_0021782 GO:0021783 biolink:BiologicalProcess preganglionic parasympathetic fiber development The process whose specific outcome is the progression of a preganglionic parasympathetic fiber over time, from its formation to the mature structure. A preganglionic parasympathetic fiber is a cholinergic axonal fiber projecting from the CNS to a parasympathetic ganglion. hp.json http://purl.obolibrary.org/obo/GO_0021783 GO:0006144 biolink:BiologicalProcess purine nucleobase metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. hp.json purine base metabolic process|purine metabolic process|purine base metabolism|purine metabolism http://purl.obolibrary.org/obo/GO_0006144 GO:0006142 biolink:BiologicalProcess regulation of pyrimidine nucleobase metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. hp.json regulation of pyrimidine base metabolic process|regulation of pyrimidine base metabolism http://purl.obolibrary.org/obo/GO_0006142 GO:0006140 biolink:BiologicalProcess regulation of nucleotide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. hp.json regulation of nucleotide metabolism http://purl.obolibrary.org/obo/GO_0006140 GO:0006141 biolink:BiologicalProcess regulation of purine nucleobase metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines. hp.json regulation of purine base metabolism|regulation of purine base metabolic process http://purl.obolibrary.org/obo/GO_0006141 GO:0045759 biolink:BiologicalProcess negative regulation of action potential Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. hp.json down regulation of action potential|inhibition of action potential|down-regulation of action potential|downregulation of action potential http://purl.obolibrary.org/obo/GO_0045759 UBERON:7500049 biolink:AnatomicalEntity proximal-most point of greater trochanter of femur The proximal-most point of the greater trochanter of a femur. hp.json http://purl.obolibrary.org/obo/UBERON_7500049 GO:0033762 biolink:BiologicalProcess response to glucagon Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucagon stimulus. hp.json response to glucagon stimulus http://purl.obolibrary.org/obo/GO_0033762 UBERON:7500040 biolink:AnatomicalEntity tip of nail The distal-most point of a cutaneous appendage. hp.json http://purl.obolibrary.org/obo/UBERON_7500040 UBERON:7500046 biolink:AnatomicalEntity proximal-most point of head of femur The proximal-most point of the head of a femur. hp.json http://purl.obolibrary.org/obo/UBERON_7500046 UBERON:7500047 biolink:AnatomicalEntity proximal-most point of head of humerus The proximal-most point of the head of a humerus. hp.json http://purl.obolibrary.org/obo/UBERON_7500047 GO:0045765 biolink:BiologicalProcess regulation of angiogenesis Any process that modulates the frequency, rate or extent of angiogenesis. hp.json http://purl.obolibrary.org/obo/GO_0045765 GO:0045766 biolink:BiologicalProcess positive regulation of angiogenesis Any process that activates or increases angiogenesis. hp.json stimulation of angiogenesis|up regulation of angiogenesis|activation of angiogenesis|up-regulation of angiogenesis|upregulation of angiogenesis http://purl.obolibrary.org/obo/GO_0045766 GO:0045763 biolink:BiologicalProcess negative regulation of cellular amino acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amino acid. hp.json inhibition of amino acid metabolic process|down-regulation of amino acid metabolic process|negative regulation of amino acid metabolism|downregulation of amino acid metabolic process|down regulation of amino acid metabolic process http://purl.obolibrary.org/obo/GO_0045763 GO:0045764 biolink:BiologicalProcess positive regulation of cellular amino acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amino acid. hp.json upregulation of amino acid metabolic process|positive regulation of amino acid metabolism|up regulation of amino acid metabolic process|stimulation of amino acid metabolic process|activation of amino acid metabolic process|up-regulation of amino acid metabolic process http://purl.obolibrary.org/obo/GO_0045764 GO:0045760 biolink:BiologicalProcess positive regulation of action potential Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. hp.json up regulation of action potential|stimulation of action potential|up-regulation of action potential|activation of action potential|upregulation of action potential http://purl.obolibrary.org/obo/GO_0045760 PR:000007499 biolink:Protein fibroblast growth factor 8 A protein that is a translation product of the human FGF8 gene or a 1:1 ortholog thereof. hp.json heparin-binding growth factor 8|FGF8|androgen-induced growth factor|FGF-8|HBGF-8|AIGF http://purl.obolibrary.org/obo/PR_000007499 GO:0045769 biolink:BiologicalProcess negative regulation of asymmetric cell division Any process that stops, prevents, or reduces the frequency, rate or extent of asymmetric cell division. hp.json down regulation of asymmetric cell division|inhibition of asymmetric cell division|down-regulation of asymmetric cell division|downregulation of asymmetric cell division http://purl.obolibrary.org/obo/GO_0045769 GO:0033750 biolink:BiologicalProcess ribosome localization A process in which a ribosome is transported to, and/or maintained in, a specific location. hp.json ribosome localisation|establishment of ribosome localisation|establishment of ribosome localization http://purl.obolibrary.org/obo/GO_0033750 GO:0018130 biolink:BiologicalProcess heterocycle biosynthetic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). hp.json heterocycle anabolism|heterocycle biosynthesis|heterocycle synthesis|heterocycle formation http://purl.obolibrary.org/obo/GO_0018130 UBERON:7500073 biolink:AnatomicalEntity left nasal bone Nasal bone on the left side of an organism when in anatomical position. hp.json http://purl.obolibrary.org/obo/UBERON_7500073 UBERON:7500074 biolink:AnatomicalEntity right nasal bone Nasal bone on the right side of an organism when in anatomical position. hp.json http://purl.obolibrary.org/obo/UBERON_7500074 UBERON:7500075 biolink:AnatomicalEntity left zygomatic arch Zygomatic arch on the left side of an organism when in anatomical position. hp.json http://purl.obolibrary.org/obo/UBERON_7500075 UBERON:7500076 biolink:AnatomicalEntity right zygomatic arch Zygomatic arch on the right side of an organism when in anatomical position. hp.json http://purl.obolibrary.org/obo/UBERON_7500076 UBERON:7500078 biolink:AnatomicalEntity styloid process of radius A condyle on the distal end and lateral side of a radius. hp.json radial styloid process|radial condyle http://purl.obolibrary.org/obo/UBERON_7500078 GO:0045770 biolink:BiologicalProcess positive regulation of asymmetric cell division Any process that activates or increases the frequency, rate or extent of asymmetric cell division. hp.json up regulation of asymmetric cell division|stimulation of asymmetric cell division|up-regulation of asymmetric cell division|activation of asymmetric cell division|upregulation of asymmetric cell division http://purl.obolibrary.org/obo/GO_0045770 GO:0045778 biolink:BiologicalProcess positive regulation of ossification Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. hp.json positive regulation of bone formation|positive regulation of bone biosynthesis|upregulation of ossification|stimulation of ossification|up regulation of ossification|activation of ossification|up-regulation of ossification http://purl.obolibrary.org/obo/GO_0045778 GO:0045779 biolink:BiologicalProcess negative regulation of bone resorption Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption. hp.json down-regulation of bone resorption|down regulation of bone resorption|downregulation of bone resorption|inhibition of bone resorption http://purl.obolibrary.org/obo/GO_0045779 UBERON:7500062 biolink:AnatomicalEntity tibial tuberosity The tibial tuberosity is on the anterior side of a tibia and is where a patella ligament attaches. hp.json fossa digitalis http://purl.obolibrary.org/obo/UBERON_7500062 GO:0045780 biolink:BiologicalProcess positive regulation of bone resorption Any process that activates or increases the frequency, rate or extent of bone resorption. hp.json up-regulation of bone resorption|up regulation of bone resorption|activation of bone resorption|stimulation of bone resorption|upregulation of bone resorption http://purl.obolibrary.org/obo/GO_0045780 UBERON:7500065 biolink:AnatomicalEntity condyle of talus An articular prominence of a talus that engages with the tibia. hp.json condyle of astragalus http://purl.obolibrary.org/obo/UBERON_7500065 GO:0006139 biolink:BiologicalProcess nucleobase-containing compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. hp.json cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|nucleobase, nucleoside and nucleotide metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolism|cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process http://purl.obolibrary.org/obo/GO_0006139 goslim_plant|goslim_pir GO:0021751 biolink:BiologicalProcess salivary nucleus development The process whose specific outcome is the progression of a salivary nucleus over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0021751 GO:0055107 biolink:BiologicalProcess Golgi to secretory granule transport The directed movement of proteins from the Golgi to a secretory granule. The secretory granule is a membrane-bounded particle, usually protein, formed in the granular endoplasmic reticulum and the Golgi complex. hp.json http://purl.obolibrary.org/obo/GO_0055107 GO:0055108 biolink:BiologicalProcess Golgi to transport vesicle transport The directed movement of proteins from the Golgi to a transport vesicle. Continuously secreted proteins are sorted into transport vesicles that fuse with the plasma membrane, releasing their contents by exocytosis. hp.json http://purl.obolibrary.org/obo/GO_0055108 GO:0021753 biolink:BiologicalProcess superior salivary nucleus development The process whose specific outcome is the progression of the superior salivary nucleus over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0021753 GO:0045787 biolink:BiologicalProcess positive regulation of cell cycle Any process that activates or increases the rate or extent of progression through the cell cycle. hp.json stimulation of progression through cell cycle|up-regulation of progression through cell cycle|positive regulation of progression through cell cycle|positive regulation of cell cycle progression|activation of progression through cell cycle|upregulation of progression through cell cycle|up regulation of progression through cell cycle http://purl.obolibrary.org/obo/GO_0045787 GO:0045785 biolink:BiologicalProcess positive regulation of cell adhesion Any process that activates or increases the frequency, rate or extent of cell adhesion. hp.json up-regulation of cell adhesion|up regulation of cell adhesion|activation of cell adhesion|stimulation of cell adhesion|upregulation of cell adhesion http://purl.obolibrary.org/obo/GO_0045785 GO:0045786 biolink:BiologicalProcess negative regulation of cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. hp.json downregulation of progression through cell cycle|down regulation of progression through cell cycle|inhibition of progression through cell cycle|down-regulation of progression through cell cycle|negative regulation of progression through cell cycle|negative regulation of cell cycle progression http://purl.obolibrary.org/obo/GO_0045786 GO:0070727 biolink:BiologicalProcess cellular macromolecule localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. hp.json cellular macromolecule localisation http://purl.obolibrary.org/obo/GO_0070727 UBERON:0005709 biolink:AnatomicalEntity upper jaw incisor epithelium A dental epithelium that is part of a upper jaw incisor. EMAPA:17940|EHDAA2:0002122 hp.json http://purl.obolibrary.org/obo/UBERON_0005709 GO:0006109 biolink:BiologicalProcess regulation of carbohydrate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates. hp.json regulation of carbohydrate metabolism http://purl.obolibrary.org/obo/GO_0006109 UBERON:0005708 biolink:AnatomicalEntity lower jaw incisor odontogenic papilla An odontogenic papilla that is part of a lower jaw incisor. EHDAA2:0001023|EMAPA:17920 hp.json lower incisor mesenchyme|lower jaw incisor dental papilla http://purl.obolibrary.org/obo/UBERON_0005708 GO:0055117 biolink:BiologicalProcess regulation of cardiac muscle contraction Any process that modulates the frequency, rate or extent of cardiac muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_0055117 UBERON:0005707 biolink:AnatomicalEntity upper jaw incisor odontogenic papilla An odontogenic papilla that is part of a upper jaw incisor. EHDAA2:0002123|EMAPA:17941 hp.json upper incisor mesenchyme|upper jaw incisor dental papilla http://purl.obolibrary.org/obo/UBERON_0005707 GO:0055118 biolink:BiologicalProcess negative regulation of cardiac muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_0055118 UBERON:0005705 biolink:AnatomicalEntity primary palate mesenchyme Mesenchyme that is part of a developing primary palate. EHDAA:6968|EHDAA2:0001501|VHOG:0001024|EMAPA:17644 hp.json http://purl.obolibrary.org/obo/UBERON_0005705 UBERON:0005704 biolink:AnatomicalEntity secondary palatal shelf mesenchyme Mesenchyme that is part of a developing secondary palatal shelf. VHOG:0001063|EMAPA:17364|EHDAA2:0001366|EHDAA:9287 hp.json palatal shelf mesenchyme http://purl.obolibrary.org/obo/UBERON_0005704 GO:0043134 biolink:BiologicalProcess regulation of hindgut contraction Any process that modulates the frequency, rate or extent of muscle contraction of the hindgut, the posterior part of the alimentary canal, including the rectum, and the large intestine. hp.json http://purl.obolibrary.org/obo/GO_0043134 GO:0043133 biolink:BiologicalProcess hindgut contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the hindgut. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The hindgut is the posterior part of the alimentary canal, including the rectum, and the large intestine. hp.json http://purl.obolibrary.org/obo/GO_0043133 UBERON:7500094 biolink:AnatomicalEntity tubercle of calcaneus A raised projection on the calcaneus. hp.json calcaneal tubercle|calcaneal tuberosity|tuberosity of calcaneus http://purl.obolibrary.org/obo/UBERON_7500094 HP:0040290 biolink:PhenotypicFeature obsolete Abnormality of skeletal muscles hp.json http://purl.obolibrary.org/obo/HP_0040290 HP:0040291 biolink:PhenotypicFeature Skeletal muscle steatosis hp.json Steatosis of skeletal muscle|Steatosis of skeletal muscles http://purl.obolibrary.org/obo/HP_0040291 HP:0040294 biolink:PhenotypicFeature Duplicated tongue hp.json Tongue duplicated|Tongue duplication|Duplication of tongue http://purl.obolibrary.org/obo/HP_0040294 GO:0021743 biolink:BiologicalProcess hypoglossal nucleus development The process whose specific outcome is the progression of the hypoglossal nucleus over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0021743 HP:0040295 biolink:PhenotypicFeature Duplication of the upper lip hp.json Double upper lip http://purl.obolibrary.org/obo/HP_0040295 HP:0040292 biolink:PhenotypicFeature Left hemiplegia hp.json Hemiplegia (left) http://purl.obolibrary.org/obo/HP_0040292 UBERON:0005712 biolink:AnatomicalEntity midgut duodenum mesentery A mesentery of duodenum that is part of a midgut. EHDAA2:0001193 hp.json http://purl.obolibrary.org/obo/UBERON_0005712 UBERON:0005711 biolink:AnatomicalEntity foregut duodenum mesentery A mesentery of duodenum that is part of a foregut. EHDAA2:0000564 hp.json http://purl.obolibrary.org/obo/UBERON_0005711 HP:0040293 biolink:PhenotypicFeature Right hemiplegia hp.json Hemiplegia (right) http://purl.obolibrary.org/obo/HP_0040293 UBERON:0005710 biolink:AnatomicalEntity lower jaw incisor epithelium A dental epithelium that is part of a lower jaw incisor. EHDAA2:0001022|EMAPA:17919 hp.json http://purl.obolibrary.org/obo/UBERON_0005710 HP:0040298 biolink:PhenotypicFeature Hyperplasia of the endometrium hp.json Hyperplastic endometrium http://purl.obolibrary.org/obo/HP_0040298 HP:0040299 biolink:PhenotypicFeature Decreased circulating free fatty acid level hp.json Low fatty acids level http://purl.obolibrary.org/obo/HP_0040299 HP:0040296 biolink:PhenotypicFeature Abnormal location of the eyebrow Anomalous anatomical placement of the eyebrow. hp.json Abnormally placed eyebrows|Abnormal location of eyebrows http://purl.obolibrary.org/obo/HP_0040296 HP:0040297 biolink:PhenotypicFeature Preauricular cyst Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix. hp.json http://purl.obolibrary.org/obo/HP_0040297 PR:000020497 biolink:Protein lactotransferrin proteolytic cleavage product A lactotransferrin that has been processed by proteolytic cleavage. hp.json LTF/ClvPrd http://purl.obolibrary.org/obo/PR_000020497 GO:0006111 biolink:BiologicalProcess regulation of gluconeogenesis Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. hp.json regulation of gluconeogenesis involved in cellular glucose homeostasis|regulation of glucose biosynthesis|regulation of glucose biosynthetic process http://purl.obolibrary.org/obo/GO_0006111 GO:0006112 biolink:NamedThing energy reserve metabolic process hp.json http://purl.obolibrary.org/obo/GO_0006112 GO:0006110 biolink:BiologicalProcess regulation of glycolytic process Any process that modulates the frequency, rate or extent of glycolysis. hp.json regulation of glycolysis involved in cellular glucose homeostasis http://purl.obolibrary.org/obo/GO_0006110 GO:0043143 biolink:BiologicalProcess regulation of translation by machinery localization Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location. hp.json translational machinery localization|translational protein localization|establishment and maintenance of translational machinery localization|regulation of translation by machinery localisation|establishment and maintenance of translational protein localization http://purl.obolibrary.org/obo/GO_0043143 GO:0021732 biolink:BiologicalProcess midbrain-hindbrain boundary maturation A developmental process, independent of morphogenetic (shape) change, that is required for the midbrain-hindbrain boundary to attain its fully functional state. The midbrain-hindbrain domain of the embryonic brain is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages. An organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate. hp.json isthmus maturation|MHB maturation http://purl.obolibrary.org/obo/GO_0021732 UBERON:0005702 biolink:AnatomicalEntity optic eminence mesenchyme Mesenchyme that is part of a optic eminence. VHOG:0001073|EMAPA:16324|RETIRED_EHDAA2:0001310|EHDAA:942 hp.json http://purl.obolibrary.org/obo/UBERON_0005702 UBERON:0005701 biolink:AnatomicalEntity lower jaw molar odontogenic papilla An odontogenic papilla that is part of a lower jaw molar. EHDAA2:0001027|EHDAA:8015|EMAPA:17923 hp.json lower molar mesenchyme|lower jaw molar dental papilla http://purl.obolibrary.org/obo/UBERON_0005701 GO:0055127 biolink:BiologicalProcess vibrational conductance of sound to the inner ear The transmission of vibrations via ossicles to the inner ear. hp.json http://purl.obolibrary.org/obo/GO_0055127 UBERON:0005700 biolink:AnatomicalEntity upper jaw molar odontogenic papilla An odontogenic papilla that is part of a upper jaw molar. EHDAA2:0002127|EMAPA:17944|EHDAA:8051 hp.json upper molar mesenchyme|upper jaw molar dental papilla http://purl.obolibrary.org/obo/UBERON_0005700 GO:0055123 biolink:BiologicalProcess digestive system development The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. hp.json http://purl.obolibrary.org/obo/GO_0055123 GO:0021720 biolink:BiologicalProcess superior olivary nucleus formation The process that gives rise to the superior olivary nucleus. This process pertains to the initial formation of a structure from unspecified parts. In mice, the superior olivary nucleus is a small cylindrical mass on the dorsal surface of the lateral part of the trapezoid body of the pons, and it is situated immediately above the inferior olivary nucleus. It receives projections from the cochlear nucleus and thus is involved in the perception of sound. hp.json http://purl.obolibrary.org/obo/GO_0021720 GO:0021722 biolink:BiologicalProcess superior olivary nucleus maturation A developmental process, independent of morphogenetic (shape) change, that is required for the superior olivary nucleus to attain its fully functional state. The superior olivary nucleus is a small cylindrical mass on the dorsal surface of the lateral part of the trapezoid body of the pons, and it is situated immediately above the inferior olivary nucleus. It receives projections from the cochlear nucleus and thus is involved in the perception of sound. hp.json superior olive maturation http://purl.obolibrary.org/obo/GO_0021722 GO:0043168 biolink:MolecularActivity anion binding Binding to an anion, a charged atom or group of atoms with a net negative charge. hp.json http://purl.obolibrary.org/obo/GO_0043168 GO:0043167 biolink:MolecularActivity ion binding Binding to an ion, a charged atoms or groups of atoms. hp.json atom binding http://purl.obolibrary.org/obo/GO_0043167 goslim_pir|goslim_chembl|goslim_metagenomics|goslim_yeast GO:0043169 biolink:MolecularActivity cation binding Binding to a cation, a charged atom or group of atoms with a net positive charge. hp.json http://purl.obolibrary.org/obo/GO_0043169 GO:0021718 biolink:BiologicalProcess superior olivary nucleus development The process whose specific outcome is the progression of the superior olivary nucleus over time, from its formation to the mature structure. In mice, the superior olivary nucleus is a small cylindrical mass on the dorsal surface of the lateral part of the trapezoid body of the pons, and it is situated immediately above the inferior olivary nucleus. It receives projections from the cochlear nucleus and thus is involved in the perception of sound. hp.json superior olive development http://purl.obolibrary.org/obo/GO_0021718 GO:0021719 biolink:BiologicalProcess superior olivary nucleus morphogenesis The process in which the anatomical structure of the superior olivary nucleus is generated and organized. In mice, the superior olivary nucleus is a small cylindrical mass on the dorsal surface of the lateral part of the trapezoid body of the pons, and it is situated immediately above the inferior olivary nucleus. It receives projections from the cochlear nucleus and thus is involved in the perception of sound. hp.json superior olive morphogenesis http://purl.obolibrary.org/obo/GO_0021719 HP:0040258 biolink:PhenotypicFeature Hypoplastic nasopharyngeal adenoids Underdevelopment of the nasopharyngeal adenoids. UMLS:C4280691 hp.json Underdeveloped nasopharyngeal adenoids http://purl.obolibrary.org/obo/HP_0040258 HP:0040259 biolink:PhenotypicFeature Aplastic nasopharyngeal adenoids Absence of the nasopharyngeal adenoids as a developmental defect. UMLS:C4280690 hp.json http://purl.obolibrary.org/obo/HP_0040259 HP:0040256 biolink:PhenotypicFeature Aplastic/Hypoplastic nasopharyngeal adenoids Absence or underdevelopment of the nasopharyngeal adenoids. UMLS:C4280290 hp.json Adenoids small or absent http://purl.obolibrary.org/obo/HP_0040256 HP:0040257 biolink:PhenotypicFeature Abnormal size of nasopharyngeal adenoids A deviation in the size of nasopharyngeal adenoids. UMLS:C4280692 hp.json http://purl.obolibrary.org/obo/HP_0040257 PR:P35456 biolink:Protein urokinase plasminogen activator surface receptor (mouse) A urokinase plasminogen activator surface receptor that is encoded in the genome of mouse. UniProtKB:P35456 hp.json uPAR (mouse)|U-PAR (mouse)|mPLAUR|Plaur|CD87 (mouse) http://purl.obolibrary.org/obo/PR_P35456 CHEBI:83972 biolink:ChemicalSubstance 3-methyl fatty acid anion A methyl-branched fatty acid anion obtained by deprotonation of the carboxy group of any 3-methyl fatty acid; major species at pH 7.3. hp.json 3-methyl-branched fatty acid(1-)|3-methyl fatty acid|3-methyl-branched fatty acid anion http://purl.obolibrary.org/obo/CHEBI_83972 3_STAR HP:0040250 biolink:PhenotypicFeature Reduced prothrombin antigen Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin. UMLS:C4280698 hp.json http://purl.obolibrary.org/obo/HP_0040250 HP:0040251 biolink:PhenotypicFeature Hand dimple A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand. UMLS:C4280697 hp.json Hand dimples http://purl.obolibrary.org/obo/HP_0040251 HP:0040254 biolink:PhenotypicFeature Decreased size of the clitoris UMLS:C4280694 hp.json http://purl.obolibrary.org/obo/HP_0040254 HP:0040255 biolink:PhenotypicFeature Aplasia/Hypoplasia of the clitoris UMLS:C4280693 hp.json http://purl.obolibrary.org/obo/HP_0040255 HP:0040252 biolink:PhenotypicFeature Abnormal size of the clitoris UMLS:C4280696 hp.json http://purl.obolibrary.org/obo/HP_0040252 HP:0040253 biolink:PhenotypicFeature Increased size of the clitoris UMLS:C4280695 hp.json http://purl.obolibrary.org/obo/HP_0040253 HP:0040269 biolink:PhenotypicFeature Blocked Eustachian tube UMLS:C0149508|SNOMEDCT_US:48145001 hp.json Obstruction of Eustachian tube http://purl.obolibrary.org/obo/HP_0040269 HP:0040267 biolink:PhenotypicFeature Distal upper limb muscle hypertrophy UMLS:C4280685 hp.json http://purl.obolibrary.org/obo/HP_0040267 HP:0040268 biolink:PhenotypicFeature Recurrent infections of the middle ear Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections UMLS:C0747085 hp.json http://purl.obolibrary.org/obo/HP_0040268 CHEBI:83982 biolink:ChemicalSubstance L-glutamic acid derivative A proteinogenic amino acid derivative resulting from reaction of L-glutamic acid at the amino group or either of the carboxy groups, or from the replacement of any hydrogen of L-glutamic acid by a heteroatom. hp.json L-glutamic acid derivatives http://purl.obolibrary.org/obo/CHEBI_83982 3_STAR PR:P35461 biolink:Protein lymphocyte antigen 6G (mouse) A lymphocyte antigen 6G that is encoded in the genome of mouse. UniProtKB:P35461 hp.json Ly-6G (mouse)|Ly6g|mLy6g|Ly-6G.1 (mouse) http://purl.obolibrary.org/obo/PR_P35461 HP:0040261 biolink:PhenotypicFeature Increased size of nasopharyngeal adenoids An abnormal increase in the size of nasopharyngeal adenoids. UMLS:C0455938|SNOMEDCT_US:111591002|SNOMEDCT_US:276442006|UMLS:C0149825 hp.json Adenoids large|Adenoid hypertrophy http://purl.obolibrary.org/obo/HP_0040261 HP:0040262 biolink:PhenotypicFeature Glue ear Middle ear is filled with glue-like fluid instead of air. UMLS:C0029883|SNOMEDCT_US:78868004|MSH:D010034 hp.json http://purl.obolibrary.org/obo/HP_0040262 HP:0040260 biolink:PhenotypicFeature Decreased size of nasopharyngeal adenoids An abnormal decrease in the size of nasopharyngeal adenoids. UMLS:C4280689 hp.json http://purl.obolibrary.org/obo/HP_0040260 GO:0031175 biolink:BiologicalProcess neuron projection development The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). hp.json neurite growth|neurite outgrowth|neurite formation|neurite biosynthesis|neurite development http://purl.obolibrary.org/obo/GO_0031175 HP:0040265 biolink:PhenotypicFeature Upper limb muscle hypertrophy Abnormal increase in muscle size and mass of one or both arms not due to training. UMLS:C4280687 hp.json http://purl.obolibrary.org/obo/HP_0040265 HP:0040266 biolink:PhenotypicFeature Proximal upper limb muscle hypertrophy UMLS:C4280686 hp.json http://purl.obolibrary.org/obo/HP_0040266 HP:0040263 biolink:PhenotypicFeature Jaw ankylosis UMLS:C4280688|SNOMEDCT_US:285466001|UMLS:C0563350 hp.json Difficulty opening mouth http://purl.obolibrary.org/obo/HP_0040263 HP:0040264 biolink:PhenotypicFeature Jaw pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. UMLS:C0236000|SNOMEDCT_US:274667000 hp.json Jaw pain http://purl.obolibrary.org/obo/HP_0040264 HP:0040278 biolink:PhenotypicFeature Prolactinoma A benign tumor (adenoma) of the pituitary gland hp.json http://purl.obolibrary.org/obo/HP_0040278 UBERON:0015099 biolink:AnatomicalEntity distal tarsal endochondral element A distal mesopodial endochondral element that is part of a hindlimb. hp.json distal tarsal http://purl.obolibrary.org/obo/UBERON_0015099 HP:0040279 biolink:PhenotypicFeature Frequency Class to represent frequency of phenotypic abnormalities within a patient cohort. hp.json http://purl.obolibrary.org/obo/HP_0040279 UBERON:0015094 biolink:AnatomicalEntity distal carpal bone 4 cartilage A distal carpal bone 4 endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015094 UBERON:0015093 biolink:AnatomicalEntity distal carpal bone 4 endochondral element hp.json distal carpal 4 http://purl.obolibrary.org/obo/UBERON_0015093 UBERON:0015095 biolink:AnatomicalEntity distal carpal bone 4 pre-cartilage condensation A distal carpal bone 4 endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015095 HP:0003288 biolink:PhenotypicFeature Mitochondrial propionyl-CoA carboxylase defect UMLS:C4025634 hp.json Mitochondrial PCC defect http://purl.obolibrary.org/obo/HP_0003288 UBERON:0015090 biolink:AnatomicalEntity distal carpal bone 3 endochondral element hp.json distal carpal 3 http://purl.obolibrary.org/obo/UBERON_0015090 HP:0040272 biolink:PhenotypicFeature Hyperintensity of MRI T2 signal of the spinal cord A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. UMLS:C4280684 hp.json http://purl.obolibrary.org/obo/HP_0040272 HP:0040273 biolink:PhenotypicFeature Adenocarcinoma of the intestines A malignant epithelial tumor with a glandular organization that originates in the intestines. UMLS:C4280683|NCIT:C2852 hp.json http://purl.obolibrary.org/obo/HP_0040273 HP:0003282 biolink:PhenotypicFeature Low alkaline phosphatase Abnormally reduced serum levels of alkaline phosphatase. UMLS:C1860130 hp.json Low ALP|Decreased serum alkaline phosphatase http://purl.obolibrary.org/obo/HP_0003282 HP:0003281 biolink:PhenotypicFeature Increased circulating ferritin concentration Increased concentration of ferritin in the blood circulation. UMLS:C3854388|UMLS:C0743912|UMLS:C0241013 hp.json High ferritin level|Hyperferritinaemia|Increased ferritin|Elevated serum ferritin|Increased serum ferritin level|Increased plasma ferritin|Hyperferritinemia http://purl.obolibrary.org/obo/HP_0003281 UBERON:0015092 biolink:AnatomicalEntity distal carpal bone 3 pre-cartilage condensation A distal carpal bone 3 endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015092 HP:0040270 biolink:PhenotypicFeature Impaired glucose tolerance An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. MP:0005291|UMLS:C0151671 hp.json Glucose tolerance decreased|Decreased glucose tolerance http://purl.obolibrary.org/obo/HP_0040270 UBERON:0015091 biolink:AnatomicalEntity distal carpal bone 3 cartilage A distal carpal bone 3 endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015091 HP:0003287 biolink:PhenotypicFeature Abnormality of mitochondrial metabolism A functional anomaly of mitochondria. UMLS:C4021734 hp.json Mitochondrial dysfunction http://purl.obolibrary.org/obo/HP_0003287 HP:0040276 biolink:PhenotypicFeature Adenocarcinoma of the colon NCIT:C2852|UMLS:C0338106 hp.json http://purl.obolibrary.org/obo/HP_0040276 HP:0003286 biolink:PhenotypicFeature Cystathioninemia An increased concentration of cystathionine in the blood. UMLS:C0268618|SNOMEDCT_US:6669004 hp.json High blood cystathionine levels http://purl.obolibrary.org/obo/HP_0003286 HP:0040277 biolink:PhenotypicFeature Neoplasm of the pituitary gland NCIT:C3262 hp.json http://purl.obolibrary.org/obo/HP_0040277 HP:0040274 biolink:PhenotypicFeature Adenocarcinoma of the small intestine A malignant epithelial tumor with a glandular organization that originates in the small intestine. NCIT:C2852|SNOMEDCT_US:424440001|UMLS:C0278803 hp.json http://purl.obolibrary.org/obo/HP_0040274 HP:0040275 biolink:PhenotypicFeature Adenocarcinoma of the large intestine A malignant epithelial tumor with a glandular organization that originates in the large intestine. NCIT:C2852|UMLS:C1319315|SNOMEDCT_US:408645001 hp.json http://purl.obolibrary.org/obo/HP_0040275 UBERON:0015087 biolink:AnatomicalEntity distal carpal bone 2 endochondral element hp.json distal carpal 2 http://purl.obolibrary.org/obo/UBERON_0015087 UBERON:0015086 biolink:AnatomicalEntity distal carpal bone 1 pre-cartilage condensation A distal carpal bone 1 endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015086 HP:0040289 biolink:PhenotypicFeature Cyclic neutropenia Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia). hp.json CyN http://purl.obolibrary.org/obo/HP_0040289 UBERON:0015089 biolink:AnatomicalEntity distal carpal bone 2 pre-cartilage condensation A distal carpal bone 2 endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015089 UBERON:0015088 biolink:AnatomicalEntity distal carpal bone 2 cartilage A distal carpal bone 2 endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015088 UBERON:0015083 biolink:AnatomicalEntity proximal tarsal bone pre-cartilage condensation A proximal tarsal endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015083 UBERON:0015082 biolink:AnatomicalEntity proximal tarsal cartilage A proximal tarsal endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015082 UBERON:0015085 biolink:AnatomicalEntity distal carpal bone 1 cartilage A distal carpal bone 1 endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015085 UBERON:0015084 biolink:AnatomicalEntity distal carpal bone 1 endochondral element hp.json distal carpal 1 http://purl.obolibrary.org/obo/UBERON_0015084 HP:0040280 biolink:PhenotypicFeature Obligate Always present, i.e. in 100% of the cases. ORPHA:453310 hp.json Obligate (100%) http://purl.obolibrary.org/obo/HP_0040280 HP:0040283 biolink:PhenotypicFeature Occasional Present in 5% to 29% of the cases. ORPHA:453313 hp.json Occasional (29-5%) http://purl.obolibrary.org/obo/HP_0040283 HP:0040284 biolink:PhenotypicFeature Very rare Present in 1% to 4% of the cases. ORPHA:453314 hp.json Very rare (<4-1%)|Very rare (<4-1%) http://purl.obolibrary.org/obo/HP_0040284 HP:0003292 biolink:PhenotypicFeature Decreased serum leptin A decreased concentration of leptin in the blood. UMLS:C1837802 hp.json Reduced circulating leptin level|Decreased serum leptin http://purl.obolibrary.org/obo/HP_0003292 HP:0040281 biolink:PhenotypicFeature Very frequent Present in 80% to 99% of the cases. ORPHA:453311 hp.json Very frequent (99-80%) http://purl.obolibrary.org/obo/HP_0040281 UBERON:0015081 biolink:AnatomicalEntity proximal tarsal endochondral element A proximal mesopodial endochondral element that is part of a hindlimb. hp.json proximal tarsal http://purl.obolibrary.org/obo/UBERON_0015081 HP:0040282 biolink:PhenotypicFeature Frequent Present in 30% to 79% of the cases. ORPHA:453312 hp.json Frequent (79-30%) http://purl.obolibrary.org/obo/HP_0040282 UBERON:0015080 biolink:AnatomicalEntity proximal carpal bone pre-cartilage condensation A proximal carpal endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015080 HP:0003298 biolink:PhenotypicFeature Spina bifida occulta The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. SNOMEDCT_US:76916001|UMLS:C0080174|MSH:D016136 hp.json http://purl.obolibrary.org/obo/HP_0003298 hposlim_core HP:0040287 biolink:PhenotypicFeature Axial muscle atrophy hp.json http://purl.obolibrary.org/obo/HP_0040287 HP:0040288 biolink:PhenotypicFeature Nasogastric tube feeding The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. hp.json http://purl.obolibrary.org/obo/HP_0040288 HP:0003297 biolink:PhenotypicFeature Hyperlysinuria An increased concentration of lysine in the urine. UMLS:C4021733 hp.json High urine lysine levels|Lysinuria http://purl.obolibrary.org/obo/HP_0003297 HP:0040285 biolink:PhenotypicFeature Excluded Present in 0% of the cases. ORPHA:453315 hp.json Excluded (0%) http://purl.obolibrary.org/obo/HP_0040285 HP:0003296 biolink:PhenotypicFeature Hyperthreoninuria An increased concentration of threonine in the urine. UMLS:C2673931 hp.json High urine threonine levels http://purl.obolibrary.org/obo/HP_0003296 HP:0003295 biolink:PhenotypicFeature obsolete Impaired FSH and LH secretion hp.json http://purl.obolibrary.org/obo/HP_0003295 HP:0040286 biolink:PhenotypicFeature Abnormal axial muscle morphology A structural anomaly of the muscles of the trunk and head. hp.json Abnormality of axial muscles http://purl.obolibrary.org/obo/HP_0040286 HP:0040214 biolink:PhenotypicFeature Abnormal circulating insulin concentration An abnormal concentration of insulin in the body. UMLS:C4073160 hp.json Abnormal insulin level http://purl.obolibrary.org/obo/HP_0040214 HP:0040215 biolink:PhenotypicFeature obsolete Abnormal circulating insulin level hp.json http://purl.obolibrary.org/obo/HP_0040215 HP:0040212 biolink:PhenotypicFeature Risus sardonicus Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles. UMLS:C0343494|SNOMEDCT_US:64314006 hp.json Rictus grin http://purl.obolibrary.org/obo/HP_0040212 HP:0040213 biolink:PhenotypicFeature Hypopnea Hypopnea is referring to breathing that is abnormally shallow. SNOMEDCT_US:386614005|UMLS:C0235546 hp.json Shallow breathing http://purl.obolibrary.org/obo/HP_0040213 HP:0040218 biolink:PhenotypicFeature Reduced natural killer cell count Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor. UMLS:C1855767 hp.json Reduced natural killer cell number|Reduced NK cell number http://purl.obolibrary.org/obo/HP_0040218 HP:0040219 biolink:PhenotypicFeature Absent natural killer cells Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis. UMLS:C4073163 hp.json Absent NK cells http://purl.obolibrary.org/obo/HP_0040219 HP:0040216 biolink:PhenotypicFeature Hypoinsulinemia A decreased concentration of insulin in the blood. UMLS:C2748055 hp.json http://purl.obolibrary.org/obo/HP_0040216 HP:0040217 biolink:PhenotypicFeature Elevated hemoglobin A1c An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. UMLS:C4073162 hp.json Elevated glycosylated haemoglobin|Elevated haemoglobin A1c|Elevated glycated hemoglobin|Elevated glycated haemoglobin|Elevated glycosylated hemoglobin|Increased HbA1c levels|Elevated HbA1c http://purl.obolibrary.org/obo/HP_0040217 HP:0030891 biolink:PhenotypicFeature Periventricular white matter hyperintensities Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. hp.json PVWMH http://purl.obolibrary.org/obo/HP_0030891 HP:0030892 biolink:PhenotypicFeature Deep cerebral white matter hyperintensities Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. hp.json DWMH http://purl.obolibrary.org/obo/HP_0030892 HP:0030893 biolink:PhenotypicFeature Abnormal response to short acting pulmonary vasodilator Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg. hp.json http://purl.obolibrary.org/obo/HP_0030893 HP:0030894 biolink:PhenotypicFeature Insufficient response to short acting pulmonary vasodilator No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. hp.json http://purl.obolibrary.org/obo/HP_0030894 HP:0030890 biolink:PhenotypicFeature Hyperintensity of cerebral white matter on MRI A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. hp.json White matter hyperintensity http://purl.obolibrary.org/obo/HP_0030890 HP:0030899 biolink:PhenotypicFeature Pruritis on hand Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand. hp.json http://purl.obolibrary.org/obo/HP_0030899 GO:0045719 biolink:NamedThing negative regulation of glycogen biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0045719 HP:0030895 biolink:PhenotypicFeature Abnormal gastrointestinal motility An anomaly of the muscular contractions that propel food though the gastrointestinal tract. hp.json Abnormal GI motility http://purl.obolibrary.org/obo/HP_0030895 HP:0030896 biolink:PhenotypicFeature Abnormal gastrointestinal transit time A deviation from the normal amount of time required for food to pass through the intestines. hp.json Abnormal GI transit time http://purl.obolibrary.org/obo/HP_0030896 MPATH:287 biolink:NamedThing islet cell adenoma Usually pancreatic B cell derived tumors mostly producing insulin. (M- 8150/0). hp.json islet (pancreatic) cell tumor benign|adenomatosis|Adenoma, endocrine pancreas http://purl.obolibrary.org/obo/MPATH_287 HP:0030897 biolink:PhenotypicFeature Decreased intestinal transit time A reduction in the length of time required for food to pass through the intestines. hp.json http://purl.obolibrary.org/obo/HP_0030897 HP:0030898 biolink:PhenotypicFeature Pruritis on abdomen Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen. hp.json http://purl.obolibrary.org/obo/HP_0030898 HP:0040210 biolink:PhenotypicFeature Abnormal circulating biopterin concentration A deviation from the normal concentration of biopterin in the blood circulation. UMLS:C4073158 hp.json http://purl.obolibrary.org/obo/HP_0040210 GO:0031143 biolink:CellularComponent pseudopodium A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. Wikipedia:Pseudopod hp.json reticulopodium|axopodium|pseudopod|pseudopodial protrusion|lobopodium http://purl.obolibrary.org/obo/GO_0031143 goslim_pir HP:0040211 biolink:PhenotypicFeature Abnormal skin morphology of the palm An abnormality of the skin of the palm, that is, the skin of the front of the hand. UMLS:C4073159 hp.json http://purl.obolibrary.org/obo/HP_0040211 HP:0040225 biolink:PhenotypicFeature Decrease in high molecular weight von Willebrand factor Multimers A decrease in high molecular weight von Willebrand factor multimers. UMLS:C4280718 hp.json Decrease in HMW VWF multimers http://purl.obolibrary.org/obo/HP_0040225 HP:0040226 biolink:PhenotypicFeature Decreased level of heparin co-factor II An abnormality of coagulation related to a decreased concentration of heparin co-factor II UMLS:C4280717 hp.json Heparin co-factor II deficiency http://purl.obolibrary.org/obo/HP_0040226 HP:0040223 biolink:PhenotypicFeature Pulmonary hemorrhage Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease. UMLS:C4280720 hp.json Intrapulmonary hemorrhage|Intrapulmonary haemorrhage|Pulmonary haemorrhage http://purl.obolibrary.org/obo/HP_0040223 HP:0040224 biolink:PhenotypicFeature Abnormality of fibrinolysis Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) UMLS:C4280719 hp.json Abnormality of the fibrinolytic system http://purl.obolibrary.org/obo/HP_0040224 HP:0040229 biolink:PhenotypicFeature Decreased level of thrombomodulin Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot UMLS:C4255334 hp.json BDCA-3 http://purl.obolibrary.org/obo/HP_0040229 HP:0040227 biolink:PhenotypicFeature Decreased level of histidine-rich glycoprotein Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation UMLS:C4280716 hp.json http://purl.obolibrary.org/obo/HP_0040227 HP:0040228 biolink:PhenotypicFeature Decreased level of plasminogen A decreased level of Plasminogen UMLS:C4280715 hp.json Hypoplasminogenemia http://purl.obolibrary.org/obo/HP_0040228 GO:0045721 biolink:BiologicalProcess negative regulation of gluconeogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis. hp.json inhibition of gluconeogenesis|downregulation of gluconeogenesis|down-regulation of gluconeogenesis|down regulation of gluconeogenesis http://purl.obolibrary.org/obo/GO_0045721 GO:0045722 biolink:BiologicalProcess positive regulation of gluconeogenesis Any process that activates or increases the frequency, rate or extent of gluconeogenesis. hp.json up-regulation of gluconeogenesis|up regulation of gluconeogenesis|activation of gluconeogenesis|stimulation of gluconeogenesis|upregulation of gluconeogenesis http://purl.obolibrary.org/obo/GO_0045722 MPATH:270 biolink:NamedThing adenoma A benign epithelial neoplasm in which the tumor cells may form glands or glandlike structures. In different instances this may remain a benign tumor or progress to malignancy. hp.json http://purl.obolibrary.org/obo/MPATH_270 GO:0045727 biolink:BiologicalProcess positive regulation of translation Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. hp.json positive regulation of protein formation|positive regulation of protein biosynthetic process|upregulation of protein biosynthetic process|positive regulation of protein biosynthesis|stimulation of protein biosynthetic process|up regulation of protein biosynthetic process|positive regulation of protein anabolism|up-regulation of protein biosynthetic process|activation of protein biosynthetic process|positive regulation of protein synthesis http://purl.obolibrary.org/obo/GO_0045727 GO:0045728 biolink:BiologicalProcess respiratory burst after phagocytosis A phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. hp.json metabolic burst after phagocytosis|oxidative burst after phagocytosis http://purl.obolibrary.org/obo/GO_0045728 GO:0045725 biolink:NamedThing positive regulation of glycogen biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0045725 GO:0045724 biolink:BiologicalProcess positive regulation of cilium assembly Any process that activates or increases the frequency, rate or extent of the formation of a cilium. hp.json up-regulation of cilium assembly|positive regulation of flagellum assembly|up regulation of cilium assembly|activation of cilium assembly|positive regulation of flagellum biogenesis|stimulation of cilium assembly|upregulation of cilium assembly http://purl.obolibrary.org/obo/GO_0045724 HP:0040221 biolink:PhenotypicFeature Hypoplasia of the dental root UMLS:C4280722 hp.json http://purl.obolibrary.org/obo/HP_0040221 HP:0040222 biolink:PhenotypicFeature Maternal thrombophilia An increased tendency towards thrombosis in the mother during a pregnancy. UMLS:C4280721 hp.json http://purl.obolibrary.org/obo/HP_0040222 HP:0040220 biolink:PhenotypicFeature Abnormal size of the dental root UMLS:C4280723 hp.json http://purl.obolibrary.org/obo/HP_0040220 HP:0040236 biolink:PhenotypicFeature Hyperfibrinolysis Increased degradation of fibrin, associated with clot instability and bleeding UMLS:C3805089 hp.json http://purl.obolibrary.org/obo/HP_0040236 HP:0040237 biolink:PhenotypicFeature Impaired binding of factor VIII to VWF Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay. UMLS:C4280710 hp.json von Willebrand Disease Type II Normandy http://purl.obolibrary.org/obo/HP_0040237 HP:0040234 biolink:PhenotypicFeature Factor XIII subunit B deficiency Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. MSH:C567688|UMLS:C2750481 hp.json Reduced factor XIII, subunit B http://purl.obolibrary.org/obo/HP_0040234 HP:0040235 biolink:PhenotypicFeature Leukocyte inclusion bodies The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes. UMLS:C4280711 hp.json Dohle-like leukocyte inclusion bodies|Inclusion bodies in leukocytes http://purl.obolibrary.org/obo/HP_0040235 GO:0031128 biolink:BiologicalProcess developmental induction A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). hp.json http://purl.obolibrary.org/obo/GO_0031128 HP:0040238 biolink:PhenotypicFeature Impaired neutrophil chemotaxis An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response UMLS:C4280709 hp.json Neutrophil migratory defect http://purl.obolibrary.org/obo/HP_0040238 HP:0040239 biolink:PhenotypicFeature Increased plasma vitamin K epoxide after vitamin K supplementation Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1. UMLS:C4280708 hp.json http://purl.obolibrary.org/obo/HP_0040239 GO:0045730 biolink:BiologicalProcess respiratory burst A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. Wikipedia:Respiratory_burst hp.json metabolic burst|oxidative burst http://purl.obolibrary.org/obo/GO_0045730 GO:0006165 biolink:BiologicalProcess nucleoside diphosphate phosphorylation The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate. hp.json http://purl.obolibrary.org/obo/GO_0006165 GO:0006163 biolink:BiologicalProcess purine nucleotide metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. hp.json purine metabolism|purine metabolic process|purine nucleotide metabolism http://purl.obolibrary.org/obo/GO_0006163 GO:0045738 biolink:BiologicalProcess negative regulation of DNA repair Any process that stops, prevents, or reduces the frequency, rate or extent of DNA repair. hp.json down regulation of DNA repair|inhibition of DNA repair|down-regulation of DNA repair|downregulation of DNA repair http://purl.obolibrary.org/obo/GO_0045738 GO:0045739 biolink:BiologicalProcess positive regulation of DNA repair Any process that activates or increases the frequency, rate or extent of DNA repair. hp.json upregulation of DNA repair|up regulation of DNA repair|stimulation of DNA repair|activation of DNA repair|up-regulation of DNA repair http://purl.obolibrary.org/obo/GO_0045739 MPATH:267 biolink:NamedThing glandular tumor Neoplasms derived from glandular epithelial cells. hp.json http://purl.obolibrary.org/obo/MPATH_267 GO:0031122 biolink:BiologicalProcess cytoplasmic microtubule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cytoplasm of a cell. hp.json cytoplasmic microtubule organisation|cytoplasmic microtubule organization and biogenesis http://purl.obolibrary.org/obo/GO_0031122 HP:0040232 biolink:PhenotypicFeature Delayed onset bleeding Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours. UMLS:C4280712 hp.json http://purl.obolibrary.org/obo/HP_0040232 HP:0040233 biolink:PhenotypicFeature Factor XIII subunit A deficiency Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. MSH:C567691|UMLS:C2750514 hp.json Reduced factor XIII, subunit A http://purl.obolibrary.org/obo/HP_0040233 HP:0040230 biolink:PhenotypicFeature Decreased level of tissue plasminogen activator The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis UMLS:C4280714 hp.json Decreased level of tPA http://purl.obolibrary.org/obo/HP_0040230 HP:0040231 biolink:PhenotypicFeature Abnormal onset of bleeding UMLS:C4280713 hp.json http://purl.obolibrary.org/obo/HP_0040231 HP:0040247 biolink:PhenotypicFeature Reduced euglobulin clot lysis time Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. UMLS:C4280701 hp.json http://purl.obolibrary.org/obo/HP_0040247 HP:0040248 biolink:PhenotypicFeature Reduced plasminogen activator inhibitor 1 activity Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator. UMLS:C4280700 hp.json http://purl.obolibrary.org/obo/HP_0040248 HP:0040245 biolink:PhenotypicFeature Reduced alpha-2-antiplasmin activity Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis. UMLS:C4280703 hp.json http://purl.obolibrary.org/obo/HP_0040245 HP:0040246 biolink:PhenotypicFeature Reduced antithrombin antigen Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation. UMLS:C4280702 hp.json http://purl.obolibrary.org/obo/HP_0040246 GO:0031117 biolink:BiologicalProcess positive regulation of microtubule depolymerization Any process that activates or increases the frequency, rate or extent of microtubule depolymerization. hp.json upregulation of microtubule depolymerization|microtubule destabilization|stimulation of microtubule depolymerization|up regulation of microtubule depolymerization|positive regulation of microtubule catastrophe|positive regulation of microtubule disassembly|up-regulation of microtubule depolymerization|activation of microtubule depolymerization http://purl.obolibrary.org/obo/GO_0031117 GO:0031115 biolink:BiologicalProcess negative regulation of microtubule polymerization Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule polymerization. hp.json inhibition of microtubule polymerization|down-regulation of microtubule polymerization|downregulation of microtubule polymerization|down regulation of microtubule polymerization http://purl.obolibrary.org/obo/GO_0031115 HP:0040249 biolink:PhenotypicFeature Reduced plasminogen activator inhibitor 1 antigen Reduced level of plasminogen activator inhibitor 1 antigen. UMLS:C4280699 hp.json http://purl.obolibrary.org/obo/HP_0040249 GO:0031116 biolink:BiologicalProcess positive regulation of microtubule polymerization Any process that activates or increases the frequency, rate or extent of microtubule polymerization. hp.json upregulation of microtubule polymerization|up regulation of microtubule polymerization|stimulation of microtubule polymerization|up-regulation of microtubule polymerization|activation of microtubule polymerization http://purl.obolibrary.org/obo/GO_0031116 GO:0045744 biolink:BiologicalProcess negative regulation of G protein-coupled receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of G protein-coupled receptor signaling pathway. hp.json negative regulation of G protein coupled receptor protein signaling pathway|down regulation of G-protein coupled receptor protein signaling pathway|inhibition of G-protein coupled receptor protein signaling pathway|down-regulation of G-protein coupled receptor protein signaling pathway|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of GPCR protein signalling pathway|negative regulation of G-protein-coupled receptor protein signalling pathway|negative regulation of GPCR protein signaling pathway|negative regulation of G-protein coupled receptor protein signalling pathway|negative regulation of G protein coupled receptor protein signalling pathway|downregulation of G-protein coupled receptor protein signaling pathway http://purl.obolibrary.org/obo/GO_0045744 MPATH:254 biolink:NamedThing complex tumor Tumors showing multiple histological componants/differentiation. hp.json http://purl.obolibrary.org/obo/MPATH_254 GO:0045745 biolink:BiologicalProcess positive regulation of G protein-coupled receptor signaling pathway Any process that activates or increases the frequency, rate or extent of G protein-coupled receptor signaling pathway activity. hp.json activation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein-coupled receptor protein signalling pathway|positive regulation of GPCR protein signalling pathway|positive regulation of G-protein coupled receptor protein signalling pathway|upregulation of G-protein coupled receptor protein signaling pathway|positive regulation of G protein coupled receptor protein signaling pathway|positive regulation of G protein coupled receptor protein signalling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|up regulation of G-protein coupled receptor protein signaling pathway|stimulation of G-protein coupled receptor protein signaling pathway|positive regulation of GPCR protein signaling pathway|positive regulation of G-protein-coupled receptor protein signaling pathway|up-regulation of G-protein coupled receptor protein signaling pathway http://purl.obolibrary.org/obo/GO_0045745 GO:0031113 biolink:BiologicalProcess regulation of microtubule polymerization Any process that modulates the frequency, rate or extent of microtubule polymerization. hp.json http://purl.obolibrary.org/obo/GO_0031113 HP:0040240 biolink:PhenotypicFeature Increased ratio of VWF propeptide to VWF antigen An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA. UMLS:C4280707 hp.json http://purl.obolibrary.org/obo/HP_0040240 GO:0031114 biolink:BiologicalProcess regulation of microtubule depolymerization Any process that modulates the frequency, rate or extent of microtubule depolymerization. hp.json regulation of microtubule disassembly http://purl.obolibrary.org/obo/GO_0031114 GO:0031111 biolink:BiologicalProcess negative regulation of microtubule polymerization or depolymerization Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule polymerization or depolymerization. hp.json downregulation of microtubule polymerization or depolymerization|down regulation of microtubule polymerization or depolymerization|inhibition of microtubule polymerization or depolymerization|down-regulation of microtubule polymerization or depolymerization http://purl.obolibrary.org/obo/GO_0031111 GO:0031112 biolink:BiologicalProcess positive regulation of microtubule polymerization or depolymerization Any process that activates or increases the frequency, rate or extent of microtubule polymerization or depolymerization. hp.json up regulation of microtubule polymerization or depolymerization|stimulation of microtubule polymerization or depolymerization|up-regulation of microtubule polymerization or depolymerization|activation of microtubule polymerization or depolymerization|upregulation of microtubule polymerization or depolymerization http://purl.obolibrary.org/obo/GO_0031112 HP:0040243 biolink:PhenotypicFeature Prolonged euglobulin clot lysis time Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. UMLS:C4280705 hp.json http://purl.obolibrary.org/obo/HP_0040243 GO:0031110 biolink:BiologicalProcess regulation of microtubule polymerization or depolymerization Any process that modulates the frequency, rate or extent of microtubule polymerization or depolymerization by the addition or removal of tubulin heterodimers from a microtubule. hp.json http://purl.obolibrary.org/obo/GO_0031110 HP:0040244 biolink:PhenotypicFeature Prolonged Russell's viper venom time Increased time to coagulation in the Russell's viper venom assay UMLS:C4280704 hp.json http://purl.obolibrary.org/obo/HP_0040244 HP:0040241 biolink:PhenotypicFeature Increased RIPA Increased platelet agglutination in response to low-dose ristocetin UMLS:C4280706 hp.json http://purl.obolibrary.org/obo/HP_0040241 HP:0040242 biolink:PhenotypicFeature Muscle hemorrhage Bleeding occuring within a muscle SNOMEDCT_US:95422003|UMLS:C0151702 hp.json Muscle haemorrhage http://purl.obolibrary.org/obo/HP_0040242 UBERON:0015152 biolink:AnatomicalEntity gland of ocular region A gland that is typically found in or near the orbital region, in or around either the medial or lateral canthi, and is typically associated with secretions onto the eyeball or associated ducts. Includes the Harderian, nictitans and lacrimal glands. hp.json orbital gland|ocular gland http://purl.obolibrary.org/obo/UBERON_0015152 UBERON:0015155 biolink:AnatomicalEntity conjunctival space An anatomical space that is enclosed by a conjunctiva. FMA:59083 hp.json subbrillar space|cavity of conjunctival sac|conjunctival sac cavity|subconjunctival space http://purl.obolibrary.org/obo/UBERON_0015155 UBERON:0015154 biolink:AnatomicalEntity lateral gland of orbital region A gland that is located in or around the ocular region, nearer the outer canthi. hp.json lateral ocular gland|lateral orbital gland http://purl.obolibrary.org/obo/UBERON_0015154 CHEBI:22984 biolink:ChemicalSubstance calcium atom DrugBank:DB01373|WebElements:Ca|KEGG:C00076|CAS:7440-70-2 hp.json Ca|Ca|20Ca|calcium|Kalzium|calcium|calcio|Calcium http://purl.obolibrary.org/obo/CHEBI_22984 3_STAR UBERON:0015150 biolink:AnatomicalEntity dorsal hair A strand of hair that is part of a dorsum. FMA:54320 hp.json back hair|dorsal coat hair|hair of back http://purl.obolibrary.org/obo/UBERON_0015150 HP:0030850 biolink:PhenotypicFeature Abnormal pulse pressure An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. UMLS:C0855322 hp.json http://purl.obolibrary.org/obo/HP_0030850 UBERON:0015156 biolink:AnatomicalEntity terminal branch of ophthalmic artery The two terminal branches of the ophthalmic artery in humans are the dorsal nasal artery and the supratrochlear artery. FMA:51956 hp.json http://purl.obolibrary.org/obo/UBERON_0015156 HP:0030855 biolink:PhenotypicFeature Anterior staphyloma A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. UMLS:C0339206|SNOMEDCT_US:231888000 hp.json http://purl.obolibrary.org/obo/HP_0030855 HP:0003225 biolink:PhenotypicFeature Reduced coagulation factor V activity Decreased activity of coagulation factor V. SNOMEDCT_US:4320005|SNOMEDCT_US:88776002|MSH:D005166|UMLS:C0015499 hp.json Factor V deficiency|Reduced factor V activity http://purl.obolibrary.org/obo/HP_0003225 HP:0030856 biolink:PhenotypicFeature Posterior staphyloma A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. SNOMEDCT_US:87819007|UMLS:C0155360 hp.json http://purl.obolibrary.org/obo/HP_0030856 HP:0003224 biolink:PhenotypicFeature Increased cellular sensitivity to UV light UMLS:C1857707 hp.json http://purl.obolibrary.org/obo/HP_0003224 HP:0030857 biolink:PhenotypicFeature Eye movement-induced pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. UMLS:C4280742 hp.json http://purl.obolibrary.org/obo/HP_0030857 HP:0003223 biolink:PhenotypicFeature Decreased methylcobalamin Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. UMLS:C4021736 hp.json Methylcobalamin deficiency http://purl.obolibrary.org/obo/HP_0003223 HP:0030858 biolink:PhenotypicFeature Addictive behavior A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains. SNOMEDCT_US:32709003|UMLS:C0085281|MSH:D016739 hp.json Addictive behaviour http://purl.obolibrary.org/obo/HP_0030858 HP:0030851 biolink:PhenotypicFeature Low pulse pressure Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). UMLS:C4280743 hp.json http://purl.obolibrary.org/obo/HP_0030851 HP:0005885 biolink:PhenotypicFeature Absent ossification of cervical vertebral bodies A lack of bone mineralization of one or more body of cervical vertebra. UMLS:C4025115 hp.json http://purl.obolibrary.org/obo/HP_0005885 HP:0030852 biolink:PhenotypicFeature High pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). UMLS:C0855323 hp.json http://purl.obolibrary.org/obo/HP_0030852 HP:0003228 biolink:PhenotypicFeature Hypernatremia An abnormally increased sodium concentration in the blood. SNOMEDCT_US:286926003|MSH:D006955|UMLS:C0020488|SNOMEDCT_US:39355002 hp.json High blood sodium levels http://purl.obolibrary.org/obo/HP_0003228 HP:0030853 biolink:PhenotypicFeature Heterotaxy An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. UMLS:C0266642|Fyler:190|SNOMEDCT_US:14821001|SNOMEDCT_US:24614000|MSH:D059446|Fyler:0190 hp.json Heterotaxia http://purl.obolibrary.org/obo/HP_0030853 HP:0005886 biolink:PhenotypicFeature Aphalangy of the hands Absence of a digit or of one or more phalanges of a finger. UMLS:C4025114 hp.json http://purl.obolibrary.org/obo/HP_0005886 HP:0003226 biolink:PhenotypicFeature Rectilinear intracellular accumulation of autofluorescent lipopigment storage material An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. UMLS:C1850447 hp.json Rectilinear profiles ultrastructurally http://purl.obolibrary.org/obo/HP_0003226 HP:0030854 biolink:PhenotypicFeature Scleral staphyloma A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. SNOMEDCT_US:111534007|UMLS:C0155359 hp.json Staphyloma http://purl.obolibrary.org/obo/HP_0030854 HP:0005880 biolink:PhenotypicFeature Metacarpophalangeal synostosis Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. UMLS:C4025117 hp.json Fused long bone of hand with innermost finger bone http://purl.obolibrary.org/obo/HP_0005880 HP:0005881 biolink:PhenotypicFeature Spinal instability UMLS:C0410648|SNOMEDCT_US:240220009 hp.json http://purl.obolibrary.org/obo/HP_0005881 HP:0005882 biolink:PhenotypicFeature Dermatoglyphic variants UMLS:C4025116 hp.json http://purl.obolibrary.org/obo/HP_0005882 HP:0030859 biolink:PhenotypicFeature Anti-topoisomerase I antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. UMLS:C4280741 hp.json Top1 antibody positivity|Topoisomerase (DNA) I antibody positivity|Anti-Scl-70 antibody positivity http://purl.obolibrary.org/obo/HP_0030859 HP:0003221 biolink:PhenotypicFeature Chromosomal breakage induced by crosslinking agents Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. UMLS:C4021737 hp.json Chromosomal breakage induced by mitomycin C|Chromosomal breakage induced by diepoxybutane http://purl.obolibrary.org/obo/HP_0003221 HP:0003220 biolink:PhenotypicFeature Abnormality of chromosome stability A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. UMLS:C0376628|MSH:D019457|UMLS:C1859424 hp.json http://purl.obolibrary.org/obo/HP_0003220 UBERON:0015142 biolink:AnatomicalEntity falciform fat A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver. hp.json falciform fat depot|falciform ligament fat pad http://purl.obolibrary.org/obo/UBERON_0015142 UBERON:0015144 biolink:AnatomicalEntity autopod hair A strand of hair that is part of a autopod region. hp.json hand/foot hair|hair of hand/foot|paw hair http://purl.obolibrary.org/obo/UBERON_0015144 UBERON:0015143 biolink:AnatomicalEntity mesenteric fat pad Encapsulated adipose tissue associated with the mesentery. hp.json mesenteric fat depot http://purl.obolibrary.org/obo/UBERON_0015143 UBERON:0015149 biolink:AnatomicalEntity ventral hair A strand of hair that is part of a ventrum. hp.json ventral coat hair http://purl.obolibrary.org/obo/UBERON_0015149 HP:0030860 biolink:PhenotypicFeature Abnormal CSF amyloid level Abnormal concentration of amyloid in the cerebrospinal fluid (CSF). UMLS:C4280740 hp.json Abnormal CSF A[beta]42 level http://purl.obolibrary.org/obo/HP_0030860 HP:0030861 biolink:PhenotypicFeature Decreased CSF amyloid level Reduced concentration of amyloid in the cerebrospinal fluid (CSF). UMLS:C4280739 hp.json http://purl.obolibrary.org/obo/HP_0030861 UBERON:0015146 biolink:AnatomicalEntity manus hair A strand of hair that is part of a manus. hp.json hair of hand|front paw hair|hand hair http://purl.obolibrary.org/obo/UBERON_0015146 UBERON:0015145 biolink:AnatomicalEntity pes hair A strand of hair that is part of a pes. hp.json hind foot hair|hind paw hair|hair of foot|foot hair http://purl.obolibrary.org/obo/UBERON_0015145 UBERON:0015148 biolink:AnatomicalEntity tail hair A strand of hair that is part of a tail. EMAPA:37971 hp.json http://purl.obolibrary.org/obo/UBERON_0015148 pheno_slim UBERON:0015147 biolink:AnatomicalEntity pinna hair A strand of hair that is part of a pinna. hp.json ear hair http://purl.obolibrary.org/obo/UBERON_0015147 pheno_slim HP:0003236 biolink:PhenotypicFeature Elevated circulating creatine kinase concentration An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. UMLS:C0151576|UMLS:C0241005 hp.json Increased serum creatine phosphokinase|Elevated circulating creatine phosphokinase|Elevated creatine kinase|Increased serum creatine kinase|High serum creatine kinase|Elevated serum CPK|Increased CPK|Elevated serum creatine phosphokinase|Increased creatine phosphokinase|Elevated blood creatine phosphokinase|Increased serum CK|Elevated serum creatine kinase|Increased creatine kinase http://purl.obolibrary.org/obo/HP_0003236 HP:0030866 biolink:PhenotypicFeature Large knee Abnormally increased size of the knee joint. UMLS:C4280736 hp.json http://purl.obolibrary.org/obo/HP_0030866 HP:0005899 biolink:PhenotypicFeature obsolete Metaphyseal dysostosis hp.json http://purl.obolibrary.org/obo/HP_0005899 HP:0030867 biolink:PhenotypicFeature Vertical orbital dystopia The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. UMLS:C0431460|SNOMEDCT_US:253243008 hp.json Eyes at different heights|Misaligned eyes|Unequal eye height http://purl.obolibrary.org/obo/HP_0030867 HP:0003235 biolink:PhenotypicFeature Hypermethioninemia An increased concentration of methionine in the blood. UMLS:C0268621|MSH:C564683|SNOMEDCT_US:57835009|SNOMEDCT_US:124283007|SNOMEDCT_US:43123004 hp.json Methioninemia|Increased methionine in blood http://purl.obolibrary.org/obo/HP_0003235 HP:0030868 biolink:PhenotypicFeature Monorchism Having only one testis in the scrotum. SNOMEDCT_US:87310001|UMLS:C0266429 hp.json Monorchidism http://purl.obolibrary.org/obo/HP_0030868 HP:0003234 biolink:PhenotypicFeature Decreased plasma carnitine A decreased concentration of carnitine in the blood. SNOMEDCT_US:421784001|UMLS:C1142132 hp.json Carnitine deficiency|Decreased plasma carnitine http://purl.obolibrary.org/obo/HP_0003234 HP:0003233 biolink:PhenotypicFeature Decreased HDL cholesterol concentration An decreased concentration of high-density lipoprotein cholesterol in the blood. SNOMEDCT_US:190785000|UMLS:C0151691|MSH:D052456|UMLS:C0473527 hp.json Decreased circulating high-density lipoprotein levels|Decreased circulating high-density lipoprotein cholesterol|Low HDL-cholesterol|Decreased HDL cholesterol|Hypoalphalipoproteinemia http://purl.obolibrary.org/obo/HP_0003233 HP:0030869 biolink:PhenotypicFeature Anorchism An abnormality of XY sexual development characterized by the absence of both testes at birth. SNOMEDCT_US:371015003|UMLS:C1261504|MSH:C537770 hp.json http://purl.obolibrary.org/obo/HP_0030869 HP:0030862 biolink:PhenotypicFeature Elevated CSF amyloid level Increased concentration of amyloid in the cerebrospinal fluid (CSF). UMLS:C4280738 hp.json http://purl.obolibrary.org/obo/HP_0030862 HP:0005895 biolink:PhenotypicFeature Radial deviation of thumb terminal phalanx UMLS:C4025111 hp.json http://purl.obolibrary.org/obo/HP_0005895 HP:0003239 biolink:PhenotypicFeature Phosphoethanolaminuria An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine. SNOMEDCT_US:55236002|MSH:C562646|UMLS:C0268412 hp.json Increased level of O-phosphoethanolamine in urine|Increased urine O-phosphoethanolamine level|High urine phosphoethanolamine levels http://purl.obolibrary.org/obo/HP_0003239 HP:0030863 biolink:PhenotypicFeature Nasal flaring Widening of the nostrils upon inhalation as a manifestation of respiratory distress. SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873 hp.json http://purl.obolibrary.org/obo/HP_0030863 HP:0005897 biolink:PhenotypicFeature Severe generalized osteoporosis Severe degree of osteoporosis. UMLS:C1859443 hp.json Severe generalised osteoporosis|Severe, generalised osteoporosis|Severe, generalized osteoporosis http://purl.obolibrary.org/obo/HP_0005897 HP:0003238 biolink:PhenotypicFeature Hyperpepsinogenemia I UMLS:C4025638 hp.json http://purl.obolibrary.org/obo/HP_0003238 NCBITaxon:9721 biolink:OrganismalEntity Cetacea hp.json http://purl.obolibrary.org/obo/NCBITaxon_9721 HP:0030864 biolink:PhenotypicFeature Intercostal retractions A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress. SNOMEDCT_US:6442005|UMLS:C0425470 hp.json Chest retractions http://purl.obolibrary.org/obo/HP_0030864 HP:0030865 biolink:PhenotypicFeature Large elbow Abnormal increased size of the elbow joint. UMLS:C4280737 hp.json Prominent elbow http://purl.obolibrary.org/obo/HP_0030865 HP:0003237 biolink:PhenotypicFeature Increased circulating IgG level An abnormally increased level of immunoglobulin G in blood. UMLS:C1858977 hp.json Increased levels of IgG|Increased total IgG in blood|Increased IgG level http://purl.obolibrary.org/obo/HP_0003237 NCBITaxon:9722 biolink:OrganismalEntity Odontoceti hp.json http://purl.obolibrary.org/obo/NCBITaxon_9722 HP:0005891 biolink:PhenotypicFeature Progressive forearm bowing Progressive bending or abnormal curvature of the forearm skeleton. UMLS:C3152020 hp.json Progressive forearm curvature http://purl.obolibrary.org/obo/HP_0005891 HP:0005892 biolink:PhenotypicFeature Proximal tibial and fibular fusion UMLS:C4025113 hp.json Fusion of innermost shinbone and calf bone http://purl.obolibrary.org/obo/HP_0005892 HP:0005894 biolink:PhenotypicFeature Double first metacarpals Duplication of the metacarpal I bones. UMLS:C4025112 hp.json Double 1st long bones of hand http://purl.obolibrary.org/obo/HP_0005894 HP:0003232 biolink:PhenotypicFeature Mitochondrial malic enzyme reduced UMLS:C1856697 hp.json Decreased mitochondrial malic enzyme http://purl.obolibrary.org/obo/HP_0003232 HP:0003231 biolink:PhenotypicFeature Hypertyrosinemia An increased concentration of tyrosine in the blood. UMLS:C1879362|SNOMEDCT_US:56595005 hp.json Increased tyrosine in blood|Tyrosinemia http://purl.obolibrary.org/obo/HP_0003231 HP:0005890 biolink:PhenotypicFeature Hyperostosis cranialis interna Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. UMLS:C1840404|MSH:C564168|UMLS:C4280469|UMLS:C4280468|UMLS:C4280472|UMLS:C4280471|UMLS:C4280470 hp.json Increased ossification of the internal surface of the cranial bones|Overgrowth of the inner surface of the skull bones|Hyperostosis of the internal surface of the cranial bones|Enlargement of the inner surface of the skull bones|Excessive growth of inner surface of the skull bones|Overgrowth of the inside of the skull|Hyperostosis of the internal surface of the cranial bone|Thick internal surface of the cranial bones|Thick inner surface of the skull bones|Hypertrophy of the internal surface of the cranial bones http://purl.obolibrary.org/obo/HP_0005890 UBERON:0015130 biolink:AnatomicalEntity connective tissue of prostate gland A portion of connective tissue that is part of a prostate gland. FMA:74165 hp.json connective tissue of prostate http://purl.obolibrary.org/obo/UBERON_0015130 HP:0030870 biolink:PhenotypicFeature Abnormality of spinal facet joint An anomaly of the small joints located between and behind adjacent vertebrae. UMLS:C4280735 hp.json Abnormality of apophyseal joint|Abnormality of zygapophysial joint|Abnormality of zygapophyseal joint|Abnormality of Z-joint http://purl.obolibrary.org/obo/HP_0030870 HP:0003209 biolink:PhenotypicFeature Decreased pyruvate carboxylase activity A decreased rate of pyruvate carboxylase activity. UMLS:C4025641 hp.json http://purl.obolibrary.org/obo/HP_0003209 HP:0030871 biolink:PhenotypicFeature Facet joint arthrosis Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. UMLS:C4280734 hp.json Facet arthritis http://purl.obolibrary.org/obo/HP_0030871 HP:0003208 biolink:PhenotypicFeature Fingerprint intracellular accumulation of autofluorescent lipopigment storage material An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. UMLS:C1836851 hp.json Fingerprint profiles ultrastructurally in cells|Fingerprint profiles ultrastructurally http://purl.obolibrary.org/obo/HP_0003208 HP:0030872 biolink:PhenotypicFeature Abnormal cardiac ventricular function An abnormality of the cardiac ventricular function. UMLS:C4280733 hp.json http://purl.obolibrary.org/obo/HP_0030872 HP:0030877 biolink:PhenotypicFeature Reduced FEV1/FVC ratio Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). UMLS:C4280729 hp.json Obstructive deficit on pulmonary function test|Obstructive deficit on pulmonary function testing http://purl.obolibrary.org/obo/HP_0030877 HP:0005866 biolink:PhenotypicFeature Opposable triphalangeal thumb A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. UMLS:C4025122 hp.json http://purl.obolibrary.org/obo/HP_0005866 HP:0003203 biolink:PhenotypicFeature Impaired oxidative burst In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria. UMLS:C4280805 hp.json Negative nitroblue tetrazolium reduction test|Negative NBT reduction test http://purl.obolibrary.org/obo/HP_0003203 HP:0030878 biolink:PhenotypicFeature Abnormality on pulmonary function testing Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. UMLS:C4280728 hp.json Abnormal spirometry test|Abnormal pulmonary function test http://purl.obolibrary.org/obo/HP_0030878 HP:0005867 biolink:PhenotypicFeature 4-5 metacarpal synostosis UMLS:C1859768 hp.json Fused 4th-5th long bones of hand|Synostosis of the fourth and fifth metacarpal bones|Fused 4th-5th metacarpals|Ring finger and little finger metacarpal synostosis|Fused fourth and fifth metacarpals http://purl.obolibrary.org/obo/HP_0005867 HP:0003202 biolink:PhenotypicFeature Skeletal muscle atrophy The presence of skeletal muscular atrophy (which is also known as amyotrophy). MSH:D009133|SNOMEDCT_US:74035001|UMLS:C0234958|UMLS:C0270948|UMLS:C1843479|UMLS:C0541794 hp.json Muscle atrophy, neurogenic|Neurogenic muscle atrophy|Amyotrophy|Muscle degeneration|Muscle atrophy|Neurogenic muscular atrophy|Muscular atrophy|Neurogenic muscle atrophy, especially in the lower limbs|Amyotrophy involving the extremities|Muscle wasting|Muscle hypotrophy http://purl.obolibrary.org/obo/HP_0003202 HP:0005868 biolink:PhenotypicFeature Metaphyseal enchondromatosis An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. UMLS:C4025121 hp.json http://purl.obolibrary.org/obo/HP_0005868 HP:0003201 biolink:PhenotypicFeature Rhabdomyolysis Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. MSH:D012206|SNOMEDCT_US:240131006|SNOMEDCT_US:89010004|UMLS:C0035410 hp.json Breakdown of skeletal muscle http://purl.obolibrary.org/obo/HP_0003201 HP:0030879 biolink:PhenotypicFeature Interlobular septal thickening Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. UMLS:C4280727 hp.json Septal lines (pulmonary CT finding)|Interlobular septal thickening on pulmonary HRCT|Short lines (pumonary CT finding)|Interlobular lines (pulmonary CT finding)|Peripheral lines (pulmonary CT finding)|Septal thickening (pulmonary CT finding) http://purl.obolibrary.org/obo/HP_0030879 HP:0003200 biolink:PhenotypicFeature Ragged-red muscle fibers An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. UMLS:C3275417 hp.json Ragged red muscle fibers|Ragged-red fibers|Ragged-red muscle fibres|Mitochondrial proliferation in muscle tissue|Ragged-red fibres|Ragged red muscle fibres http://purl.obolibrary.org/obo/HP_0003200 HP:0030873 biolink:PhenotypicFeature Anti-centromere antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components. UMLS:C4280732 hp.json ACA positivity|Anticentromere antibody positivity http://purl.obolibrary.org/obo/HP_0030873 HP:0003207 biolink:PhenotypicFeature Arterial calcification Pathological deposition of calcium salts in one or more arteries. UMLS:C1168153 hp.json http://purl.obolibrary.org/obo/HP_0003207 GO:0080090 biolink:BiologicalProcess regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. hp.json http://purl.obolibrary.org/obo/GO_0080090 HP:0030874 biolink:PhenotypicFeature Oxygen desaturation on exertion Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. UMLS:C4280731 hp.json O2 desaturation on exertion http://purl.obolibrary.org/obo/HP_0030874 HP:0005863 biolink:PhenotypicFeature Type E brachydactyly In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. MSH:C566194|UMLS:C1862102 hp.json http://purl.obolibrary.org/obo/HP_0005863 HP:0003206 biolink:PhenotypicFeature Decreased activity of NADPH oxidase UMLS:C1844394 hp.json http://purl.obolibrary.org/obo/HP_0003206 HP:0003205 biolink:PhenotypicFeature Curvilinear intracellular accumulation of autofluorescent lipopigment storage material An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. UMLS:C1836852 hp.json Curvilinear profiles ultrastructurally|Intracellular curvilinear profiles on ultrastructural analysis|Curvilinear profiles ultrastructurally in cells http://purl.obolibrary.org/obo/HP_0003205 HP:0030875 biolink:PhenotypicFeature Abnormality of pulmonary circulation A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. UMLS:C4280730 hp.json Abnormality of respiratory circulation|Abnormal pulmonary circulation http://purl.obolibrary.org/obo/HP_0030875 HP:0005864 biolink:PhenotypicFeature Pseudoarthrosis A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint"). MSH:D011542|UMLS:C0033785|SNOMEDCT_US:410818009|SNOMEDCT_US:31511007 hp.json Pseudoarthroses http://purl.obolibrary.org/obo/HP_0005864 HP:0030876 biolink:PhenotypicFeature Increased pulmonary capillary wedge pressure Pulmonary capillary wedge pressure (PCWP) above 15mmHg. UMLS:C0520850|SNOMEDCT_US:30261008 hp.json Increased pulmonary artery occlusion pressure|Increased pulmonary arterial wedge pressure http://purl.obolibrary.org/obo/HP_0030876 HP:0003204 biolink:PhenotypicFeature Intracellular accumulation of autofluorescent lipopigment storage material The intracellular accumulation of autofluorescent storage material. UMLS:C4025642 hp.json http://purl.obolibrary.org/obo/HP_0003204 UBERON:0015120 biolink:AnatomicalEntity right outer canthus An outer canthus that is in_the_right_side_of a head. FMA:59317 hp.json right lateral canthus|right lateral palpebral commissure|right angle of eye|lateral canthus of right eye|lateral angle of right eye http://purl.obolibrary.org/obo/UBERON_0015120 HP:0040203 biolink:PhenotypicFeature Abnormal CSF neopterin concentration Abnormal concentration of neopterin in the cerebrospinal fluid (CSF). UMLS:C4073151 hp.json Abnormal CSF neopterin level http://purl.obolibrary.org/obo/HP_0040203 HP:0040204 biolink:PhenotypicFeature Elevated CSF neopterin level Increased concentration of neopterin in the cerebrospinal fluid (CSF). UMLS:C4073152 hp.json http://purl.obolibrary.org/obo/HP_0040204 UBERON:0015122 biolink:AnatomicalEntity anatomical line between outer canthi An anatomical line of the face that connects the two outer (lateral) canthi of the eye. The length of this line is known as the outer canthal distance. hp.json inter outer canthal line|inter lateral canthal line http://purl.obolibrary.org/obo/UBERON_0015122 HP:0040201 biolink:PhenotypicFeature Simultanapraxia A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. UMLS:C4073149 hp.json http://purl.obolibrary.org/obo/HP_0040201 UBERON:0015121 biolink:AnatomicalEntity left outer canthus An outer canthus that is in_the_left_side_of a head. FMA:59318 hp.json left lateral palpebral commissure|left angle of eye|left lateral canthus|lateral angle of left eye|lateral canthus of left eye http://purl.obolibrary.org/obo/UBERON_0015121 HP:0040202 biolink:PhenotypicFeature Abnormal consumption behavior UMLS:C4073150 hp.json Abnormal consumption behaviour http://purl.obolibrary.org/obo/HP_0040202 HP:0040207 biolink:PhenotypicFeature Abnormal CSF biopterin concentration Abnormal concentration of biopterin in the cerebrospinal fluid (CSF). UMLS:C4073155 hp.json Abnormal cerebrospinal fluid biopterin level|Abnormal CSF biopterin level http://purl.obolibrary.org/obo/HP_0040207 UBERON:1100000 biolink:AnatomicalEntity digestive tract junction An anatomical junction between two parts of the digestive tract. hp.json http://purl.obolibrary.org/obo/UBERON_1100000 HP:0040208 biolink:PhenotypicFeature Elevated CSF biopterin level Increased concentration of biopterin in the cerebrospinal fluid (CSF). UMLS:C4073156 hp.json http://purl.obolibrary.org/obo/HP_0040208 CHEBI:83925 biolink:ChemicalSubstance non-proteinogenic alpha-amino acid Any alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. hp.json non-proteinogenic alpha-amino-acids|non-proteinogenic alpha-amino acids|non-proteinogenic alpha-amino-acid http://purl.obolibrary.org/obo/CHEBI_83925 3_STAR HP:0040205 biolink:PhenotypicFeature Decreased CSF neopterin level Decreased concentration of neopterin in the cerebrospinal fluid (CSF). UMLS:C4073153 hp.json http://purl.obolibrary.org/obo/HP_0040205 HP:0040206 biolink:PhenotypicFeature Abnormal circulating neopterin concentration Any deviation from the normal concentration of neopterin in the blood circulation. UMLS:C4073154 hp.json http://purl.obolibrary.org/obo/HP_0040206 UBERON:0015128 biolink:AnatomicalEntity subepicardial layer of epicardium FMA:83105 hp.json perimysial connective tissue of subepicardium|subepicardial connective tissue http://purl.obolibrary.org/obo/UBERON_0015128 HP:0030880 biolink:PhenotypicFeature Raynaud phenomenon UMLS:C0034735|MSH:D011928|SNOMEDCT_US:266261006 hp.json Raynaud disease|Raynaud's phenomenon http://purl.obolibrary.org/obo/HP_0030880 HP:0030881 biolink:PhenotypicFeature Shoulder impingement Trapping and compression of the rotator cuff tendons during shoulder movements. UMLS:C1655733 hp.json http://purl.obolibrary.org/obo/HP_0030881 HP:0030882 biolink:PhenotypicFeature Coronary artery aneurysm Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. UMLS:C4255100|Fyler:3129 hp.json Coronary artery ectasia|Coronary artery dilatation|Coronary arterial dilatation http://purl.obolibrary.org/obo/HP_0030882 HP:0040209 biolink:PhenotypicFeature Decreased CSF biopterin level Decreased concentration of biopterin in the cerebrospinal fluid (CSF). UMLS:C4073157 hp.json Decreased cerebrospinal fluid biopterin level http://purl.obolibrary.org/obo/HP_0040209 HP:0030883 biolink:PhenotypicFeature Femoroacetabular impingement Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. SNOMEDCT_US:432473000|UMLS:C2936290|MSH:D057925 hp.json Femoral acetabular impingement http://purl.obolibrary.org/obo/HP_0030883 UBERON:0015129 biolink:AnatomicalEntity epicardial fat Visceral intrapericardial fat contiguous with the myocardial surface. FMA:9871|SCTID:42267001 hp.json epicardial adipose tissue|pericardial adipose tissue http://purl.obolibrary.org/obo/UBERON_0015129 HP:0003219 biolink:PhenotypicFeature Ethylmalonic aciduria An increased concentration of ethylmalonic acid in the urine. UMLS:C1865353 hp.json http://purl.obolibrary.org/obo/HP_0003219 PR:P11413 biolink:Protein glucose-6-phosphate 1-dehydrogenase (human) A glucose-6-phosphate 1-dehydrogenase that is encoded in the genome of human. UniProtKB:P11413 hp.json G6PD|hG6PD http://purl.obolibrary.org/obo/PR_P11413 HP:0003214 biolink:PhenotypicFeature Prolonged G2 phase of cell cycle UMLS:C4025639 hp.json http://purl.obolibrary.org/obo/HP_0003214 HP:0030888 biolink:PhenotypicFeature C3 nephritic factor positivity The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb). hp.json http://purl.obolibrary.org/obo/HP_0030888 HP:0005877 biolink:PhenotypicFeature Multiple small vertebral fractures UMLS:C4025119 hp.json http://purl.obolibrary.org/obo/HP_0005877 HP:0030889 biolink:PhenotypicFeature Congenital shortened small intestine Substantially shortened length of the small intestine as a result of a developmental defect. hp.json Short bowel http://purl.obolibrary.org/obo/HP_0030889 HP:0005878 biolink:PhenotypicFeature Enlarged sagittal diameter of the cervical canal UMLS:C4025118 hp.json http://purl.obolibrary.org/obo/HP_0005878 HP:0003213 biolink:PhenotypicFeature Deficient excision of UV-induced pyrimidine dimers in DNA UMLS:C4025640 hp.json http://purl.obolibrary.org/obo/HP_0003213 HP:0005879 biolink:PhenotypicFeature Congenital finger flexion contractures Multiple bent (flexed) finger joints that cannot be straightened actively or passively. UMLS:C1393871 hp.json Congenital finger contractures http://purl.obolibrary.org/obo/HP_0005879 HP:0003212 biolink:PhenotypicFeature Increased circulating IgE level An abnormally increased overall level of immunoglobulin E in blood. UMLS:C0236175 hp.json High immunoglobulin E|Elevated immunoglobulin E|Elevated serum IgE http://purl.obolibrary.org/obo/HP_0003212 HP:0003218 biolink:PhenotypicFeature Oroticaciduria An increased concentration of orotic acid in the urine. SNOMEDCT_US:124277009|SNOMEDCT_US:47641009|UMLS:C0268128 hp.json High urine orotic acid levels|Increased urinary orotic acid concentration|Orotic aciduria http://purl.obolibrary.org/obo/HP_0003218 HP:0005873 biolink:PhenotypicFeature Polysyndactyly of hallux Combined syndactyly and polydactyly of the great toe. UMLS:C4021618 hp.json Polysyndactyly of great toe|Polysyndactyly of big toe http://purl.obolibrary.org/obo/HP_0005873 HP:0030884 biolink:PhenotypicFeature Gastrojejunal tube feeding in infancy Feeding problem necessitating gastrojejunal tube feeding. UMLS:C4280681 hp.json Gastro-jejunal tube feeding in infancy http://purl.obolibrary.org/obo/HP_0030884 HP:0003217 biolink:PhenotypicFeature Hyperglutaminemia An increased concentration of glutamine in the blood. UMLS:C1839533 hp.json High plasma glutamine http://purl.obolibrary.org/obo/HP_0003217 HP:0030885 biolink:PhenotypicFeature Recurrent parasitic infections Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection. UMLS:C4280726 hp.json http://purl.obolibrary.org/obo/HP_0030885 HP:0005875 biolink:PhenotypicFeature Increased dermatoglyphic whorls UMLS:C4025120 hp.json http://purl.obolibrary.org/obo/HP_0005875 HP:0030886 biolink:PhenotypicFeature Abnormal lymphocyte apoptosis A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes. UMLS:C4280725 hp.json http://purl.obolibrary.org/obo/HP_0030886 HP:0003216 biolink:PhenotypicFeature Generalized amyloid deposition A diffuse form of amyloidosis. UMLS:C1862968 hp.json Generalised amyloid deposition http://purl.obolibrary.org/obo/HP_0003216 MPATH:212 biolink:NamedThing inflammation A tissue reaction to an internal or external injury. hp.json http://purl.obolibrary.org/obo/MPATH_212 HP:0003215 biolink:PhenotypicFeature Dicarboxylic aciduria An increased concentration of dicarboxylic acid in the urine. UMLS:C1856432 hp.json http://purl.obolibrary.org/obo/HP_0003215 HP:0005876 biolink:PhenotypicFeature Progressive flexion contractures Progressively worsening joint contractures. UMLS:C3279322 hp.json Joint contractures, progressive http://purl.obolibrary.org/obo/HP_0005876 HP:0030887 biolink:PhenotypicFeature Increased lymphocyte apoptosis A elevation in the rate of apoptosis in lymphocytes. UMLS:C4280724 hp.json http://purl.obolibrary.org/obo/HP_0030887 HP:0005871 biolink:PhenotypicFeature Metaphyseal chondrodysplasia An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. UMLS:C0265290|SNOMEDCT_US:28681006 hp.json http://purl.obolibrary.org/obo/HP_0005871 HP:0005872 biolink:PhenotypicFeature Brachytelomesophalangy Disproportionately short middle and distal phalanges compared to the hand/foot. UMLS:C1847408 hp.json Progressive brachydactyly of middle and distal phalanges|Short middle and distal phalanges of digits ii through v http://purl.obolibrary.org/obo/HP_0005872 HP:0003210 biolink:PhenotypicFeature Decreased methylmalonyl-CoA mutase activity An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. UMLS:C1848579 hp.json Decreased methylmalonyl CoA mutase activity http://purl.obolibrary.org/obo/HP_0003210 MPATH:218 biolink:NamedThing neoplasm A tumor resulting from abnormal and uncontrolled autonomous new cell growth (proliferation)that may be benign or malignant. hp.json http://purl.obolibrary.org/obo/MPATH_218 HP:0040200 biolink:PhenotypicFeature Motor impersistence The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts. UMLS:C4073148 hp.json Negative chorea http://purl.obolibrary.org/obo/HP_0040200 NCBITaxon:9747 biolink:OrganismalEntity Monodontidae hp.json http://purl.obolibrary.org/obo/NCBITaxon_9747 HP:0030811 biolink:PhenotypicFeature Tongue pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue. SNOMEDCT_US:30731004|MSH:D005926|UMLS:C0017672 hp.json Painful tongue http://purl.obolibrary.org/obo/HP_0030811 HP:0003269 biolink:PhenotypicFeature Sudanophilic leukodystrophy SNOMEDCT_US:64855000|MSH:D020371|UMLS:C0205711 hp.json http://purl.obolibrary.org/obo/HP_0003269 HP:0003268 biolink:PhenotypicFeature Argininuria A increased concentration of arginine in the urine. UMLS:C4025635 hp.json High urine arginine levels http://purl.obolibrary.org/obo/HP_0003268 HP:0030812 biolink:PhenotypicFeature Enlarged tonsils Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. UMLS:C0272386|SNOMEDCT_US:46689006 hp.json tonsils large/hypertrophy|Enlargment of tonsils|Tonsillar hypertrophy http://purl.obolibrary.org/obo/HP_0030812 HP:0030813 biolink:PhenotypicFeature Absent tonsils Lack of observable tonsillar tissue. SNOMEDCT_US:300277007|UMLS:C0576999|SNOMEDCT_US:249393008 hp.json Hypoplastic tonsils|Tonsillar hypoplasia http://purl.obolibrary.org/obo/HP_0030813 HP:0003267 biolink:PhenotypicFeature Reduced orotidine 5-prime phosphate decarboxylase level An abnormal decrease in orotidine 5'-phosphate decarboxylase level. UMLS:C4020845|UMLS:C4025636 hp.json Orotidine-5-prime-phosphate decarboxylase defect http://purl.obolibrary.org/obo/HP_0003267 HP:0030814 biolink:PhenotypicFeature Orange discolored tonsils A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903. UMLS:C4280753 hp.json Orange colored tonsils|Orange tonsils|Orange coloured tonsils|Tonsils with orange deposits|Orange discoloured tonsils http://purl.obolibrary.org/obo/HP_0030814 MPATH:201 biolink:NamedThing vasculitis Inflammation of a blood vessel. hp.json arteritis|angiitis|lymphangiitis|phlebitis http://purl.obolibrary.org/obo/MPATH_201 HP:0030810 biolink:PhenotypicFeature Abnormal tongue physiology Any functional anomaly of the tongue. UMLS:C4280754 hp.json http://purl.obolibrary.org/obo/HP_0030810 HP:0030819 biolink:PhenotypicFeature Ski jump nail Nails that slope upward at the free edge. UMLS:C4280751 hp.json Upslanting nail|Upward angulation of nail http://purl.obolibrary.org/obo/HP_0030819 HP:0003261 biolink:PhenotypicFeature Increased circulating IgA level An abnormally increased level of immunoglobulin A in blood. UMLS:C0239984 hp.json IgA hypergammaglobulinemia|Elevated serum IgA|Elevated IgA|Increased serum IgA|Increased levels of IgA http://purl.obolibrary.org/obo/HP_0003261 CHEBI:46912 biolink:ChemicalSubstance ornithinium(1+) hp.json ornithinium|2,5-diammoniopentanoate|ornithine monocation|ornithinium(1+) http://purl.obolibrary.org/obo/CHEBI_46912 3_STAR CHEBI:46913 biolink:ChemicalSubstance ornithinium(2+) hp.json ornithinediium|ornithine dication|1-carboxybutane-1,4-diaminium|ornithinium(2+) http://purl.obolibrary.org/obo/CHEBI_46913 3_STAR HP:0003260 biolink:PhenotypicFeature Hydroxyprolinemia An increased concentration of hydroxyproline in the blood. UMLS:C0268531|MSH:C562669|SNOMEDCT_US:25739007 hp.json High blood hydroxyproline levels http://purl.obolibrary.org/obo/HP_0003260 CHEBI:46915 biolink:ChemicalSubstance sarcosinate An alpha-amino-acid anion that is the conjugate base of sarcosine, arising from deprotonation of the carboxy group. Gmelin:81987|Reaxys:3536300|Beilstein:3536300 hp.json (methylamino)acetate|sarcosinate http://purl.obolibrary.org/obo/CHEBI_46915 3_STAR HP:0003265 biolink:PhenotypicFeature Neonatal hyperbilirubinemia A type of hyperbilirubinemia with neonatal onset. MSH:D051556|UMLS:C0857007|SNOMEDCT_US:281610001 hp.json Hyperbilirubinemia, neonatal|High blood bilirubin levels in neonate http://purl.obolibrary.org/obo/HP_0003265 HP:0030815 biolink:PhenotypicFeature Lipoma of the tongue A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue. UMLS:C0238467 hp.json Tongue lipoma http://purl.obolibrary.org/obo/HP_0030815 HP:0003264 biolink:PhenotypicFeature Deficiency of N-acetylglucosamine-1-phosphotransferase MSH:D009081|UMLS:C0020725|SNOMEDCT_US:70199000 hp.json http://purl.obolibrary.org/obo/HP_0003264 HP:0030816 biolink:PhenotypicFeature Gingival recession The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth. SNOMEDCT_US:4356008|UMLS:C0017572|MSH:D005889 hp.json Gum recession|Receding gums http://purl.obolibrary.org/obo/HP_0030816 HP:0030817 biolink:PhenotypicFeature Beaked nails Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit. UMLS:C4280752 hp.json http://purl.obolibrary.org/obo/HP_0030817 HP:0003262 biolink:PhenotypicFeature Smooth muscle antibody positivity The presence in serum of antibodies against smooth muscle. SNOMEDCT_US:310290006|UMLS:C0241185 hp.json Smooth muscle antibody positive|Anti-smooth muscle antibody positivity http://purl.obolibrary.org/obo/HP_0003262 HP:0030818 biolink:PhenotypicFeature Central nail canal The presence of a depressed line ("canal") in the center of the nail. UMLS:C0263526|SNOMEDCT_US:86393005|SNOMEDCT_US:238718006 hp.json Median nail dystrophy http://purl.obolibrary.org/obo/HP_0030818 UBERON:0015181 biolink:AnatomicalEntity neck of tooth The slightly constricted part of a tooth, between the crown and the root. NCIT:C32346|FMA:55627 hp.json cervix of tooth|tooth neck|dental neck|collumn dentis|cervical zone of tooth|cervical margin of tooth|cervix dentis http://purl.obolibrary.org/obo/UBERON_0015181 HP:0030822 biolink:PhenotypicFeature Hooded upper eyelid Upper eyelid partly covered by skin when eyes are open. UMLS:C4280749 hp.json http://purl.obolibrary.org/obo/HP_0030822 HP:0003279 biolink:PhenotypicFeature Coxa magna Widening of the femoral head and neck. SNOMEDCT_US:296041000119103|MSH:D000070603|UMLS:C1860826 hp.json http://purl.obolibrary.org/obo/HP_0003279 HP:0030823 biolink:PhenotypicFeature Scleral thickening Increased dimension of the sclera in the anterior-posterior axis. UMLS:C2674403 hp.json Thick sclera http://purl.obolibrary.org/obo/HP_0030823 HP:0030824 biolink:PhenotypicFeature Mizuo phenomenon Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. UMLS:C4280748 hp.json Mizuo-Nakamura phenomenon http://purl.obolibrary.org/obo/HP_0030824 HP:0003278 biolink:PhenotypicFeature Square pelvis bone An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. UMLS:C1849953 hp.json Square pelvis|Squared off pelvis|Square pelvis bone http://purl.obolibrary.org/obo/HP_0003278 HP:0030825 biolink:PhenotypicFeature Absent foveal reflex Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. SNOMEDCT_US:247144003|UMLS:C0423420 hp.json Foveal reflex absent|Loss of foveal reflex http://purl.obolibrary.org/obo/HP_0030825 HP:0003277 biolink:PhenotypicFeature Constricted iliac wing UMLS:C1854785 hp.json Constricted iliac wings http://purl.obolibrary.org/obo/HP_0003277 GO:0031090 biolink:CellularComponent organelle membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. NIF_Subcellular:sao830981606 hp.json intracellular membrane http://purl.obolibrary.org/obo/GO_0031090 HP:0030820 biolink:PhenotypicFeature Hooded eyelid Eyelid partly covered by skin when eyes are open. UMLS:C3277348 hp.json http://purl.obolibrary.org/obo/HP_0030820 HP:0030821 biolink:PhenotypicFeature Hooded lower eyelid Lower eyelid partly covered by skin when eyes are open. UMLS:C4280750 hp.json http://purl.obolibrary.org/obo/HP_0030821 HP:0003272 biolink:PhenotypicFeature Abnormal hip bone morphology An abnormality of the hip bone. UMLS:C4021735 hp.json Abnormality of the hip bone|Abnormality of the hips http://purl.obolibrary.org/obo/HP_0003272 HP:0003271 biolink:PhenotypicFeature Visceromegaly Abnormal increased size of the viscera of the abdomen. SNOMEDCT_US:28543008|UMLS:C0042782 hp.json http://purl.obolibrary.org/obo/HP_0003271 UBERON:0015180 biolink:AnatomicalEntity neck of talus The neck of talus is directed forward and medialward, and comprises the constricted portion of the bone between the body and the oval head. Its upper and medial surfaces are rough, for the attachment of ligaments; its lateral surface is concave and is continuous below with the deep groove for the interosseous talocalcaneal ligament. FMA:33636 hp.json collum tali|talus neck|talar neck http://purl.obolibrary.org/obo/UBERON_0015180 pheno_slim HP:0003270 biolink:PhenotypicFeature Abdominal distention Distention of the abdomen. SNOMEDCT_US:41931001|UMLS:C0000731|SNOMEDCT_US:60728008 hp.json Abdominal swelling|Abdominal distension|Bloating|Abdominal bloating|Distended abdomen|Belly bloating http://purl.obolibrary.org/obo/HP_0003270 hposlim_core CHEBI:46904 biolink:ChemicalSubstance oxalate(1-) A dicarboxylic acid monoanion that is the conjugate base of oxalic acid. Gmelin:49515|Beilstein:3601755 hp.json hydrogen ethanedioate|Hox|hydrogen oxalate|carboxyformate http://purl.obolibrary.org/obo/CHEBI_46904 3_STAR HP:0030826 biolink:PhenotypicFeature Eyelid fasciculation Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. UMLS:C4280682 hp.json Muscle twitches in eye lid|Eyelid fluttering|Twitching around eyes|Muscle twitches in eyelid|Fasciculation of the eyelid http://purl.obolibrary.org/obo/HP_0030826 HP:0003276 biolink:PhenotypicFeature Pelvic bone exostoses A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage. UMLS:C1844689 hp.json Pelvic exostoses http://purl.obolibrary.org/obo/HP_0003276 GO:0031099 biolink:BiologicalProcess regeneration The regrowth of a lost or destroyed body part, such as an organ or tissue. This process may occur via renewal, repair, and/or growth alone (i.e. increase in size or mass). Wikipedia:Regeneration_(biology) hp.json http://purl.obolibrary.org/obo/GO_0031099 HP:0003275 biolink:PhenotypicFeature Narrow pelvis bone Reduced side to side width of the pelvis. UMLS:C1848103 hp.json Narrow pelvis|Narrow pelvis bone http://purl.obolibrary.org/obo/HP_0003275 hposlim_core HP:0003274 biolink:PhenotypicFeature Hypoplastic acetabulae Underdeveloped acetabulae. UMLS:C1846442 hp.json Hypoplastic acetabula|Acetabular hypoplasia http://purl.obolibrary.org/obo/HP_0003274 hposlim_core HP:0030828 biolink:PhenotypicFeature Wheezing A high-pitched whistling sound associated with labored breathing. MSH:D012135|UMLS:C0043144|SNOMEDCT_US:56018004 hp.json Wheezing http://purl.obolibrary.org/obo/HP_0030828 HP:0030829 biolink:PhenotypicFeature Abnormal breath sound An anomalous (adventitious) sound produced by the breathing process. SNOMEDCT_US:301273002|UMLS:C0231856 hp.json Abnormal lung auscultation finding http://purl.obolibrary.org/obo/HP_0030829 HP:0003273 biolink:PhenotypicFeature Hip contracture SNOMEDCT_US:202283002|UMLS:C0409354 hp.json Flexion contractures of hips|Flexion contracture of hips|Hip flexion contractures|Hip contractures http://purl.obolibrary.org/obo/HP_0003273 UBERON:0015172 biolink:AnatomicalEntity endometrial blood vessel A blood vessel that is part of a endometrium. SCTID:254200009 hp.json blood vessel of endometrium http://purl.obolibrary.org/obo/UBERON_0015172 CHEBI:83955 biolink:ChemicalSubstance 2-saturated fatty acid anion A fatty acid anion obtained by deprotonation of the carboxy group of any 2-saturated fatty acid. hp.json a 1,2-saturated fatty acid|1,2-saturated fatty acid anion http://purl.obolibrary.org/obo/CHEBI_83955 3_STAR UBERON:0015179 biolink:AnatomicalEntity somite boundary epithelium Epithelium located in the intersomitic region. XAO:0004077 hp.json intersomitic epithelium|intersomitic membrane http://purl.obolibrary.org/obo/UBERON_0015179 UBERON:0015178 biolink:AnatomicalEntity somite border A region of somite adjacent to presomitic mesoderm. XAO:0004074|ZFA:0001462|TAO:0001462 hp.json somite boundary|intersomitic junction|inter-somited border|intersomitic boundary|intersomitic fissure|segmental border http://purl.obolibrary.org/obo/UBERON_0015178 pheno_slim HP:0030833 biolink:PhenotypicFeature Neck pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. UMLS:C0007859|MSH:D019547|SNOMEDCT_US:81680005 hp.json Neck pain http://purl.obolibrary.org/obo/HP_0030833 HP:0003247 biolink:PhenotypicFeature Overgrowth of external genitalia UMLS:C1851722 hp.json Overgrowth of external genitalia http://purl.obolibrary.org/obo/HP_0003247 HP:0003246 biolink:PhenotypicFeature Prominent scrotal raphe Increased size of the ridge of tissue that extends along the midline of the scrotum. UMLS:C1852407 hp.json Prominent perineal raphe http://purl.obolibrary.org/obo/HP_0003246 HP:0030834 biolink:PhenotypicFeature Shoulder pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. UMLS:C0037011|MSH:D020069|SNOMEDCT_US:45326000 hp.json Shoulder pain http://purl.obolibrary.org/obo/HP_0030834 HP:0030835 biolink:PhenotypicFeature Elbow pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow. SNOMEDCT_US:74323005|UMLS:C0239266 hp.json Elbow pain http://purl.obolibrary.org/obo/HP_0030835 HP:0003244 biolink:PhenotypicFeature Penile hypospadias Location of the urethral opening on the inferior aspect of the penis. SNOMEDCT_US:204888000|UMLS:C1691215 hp.json http://purl.obolibrary.org/obo/HP_0003244 HP:0030836 biolink:PhenotypicFeature Wrist pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. UMLS:C0221785|SNOMEDCT_US:202482009|SNOMEDCT_US:56608008 hp.json Wrist pain http://purl.obolibrary.org/obo/HP_0030836 HP:0030830 biolink:PhenotypicFeature Crackles Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. MSH:D012135|UMLS:C0034642|SNOMEDCT_US:48409008 hp.json Rales|Crepitations http://purl.obolibrary.org/obo/HP_0030830 HP:0030831 biolink:PhenotypicFeature Rhonchi Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. MSH:D012135|UMLS:C0035508|SNOMEDCT_US:24612001 hp.json http://purl.obolibrary.org/obo/HP_0030831 HP:0003249 biolink:PhenotypicFeature Genital ulcers UMLS:C0151281 hp.json Genital ulcers http://purl.obolibrary.org/obo/HP_0003249 HP:0030832 biolink:PhenotypicFeature Vitreous strands Fiber- or rope-like opacities located within the vitreous humor. UMLS:C0271408|SNOMEDCT_US:28167005 hp.json http://purl.obolibrary.org/obo/HP_0030832 HP:0003248 biolink:PhenotypicFeature Gonadal tissue inappropriate for external genitalia or chromosomal sex UMLS:C1860268 hp.json http://purl.obolibrary.org/obo/HP_0003248 HP:0030837 biolink:PhenotypicFeature Finger pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger. SNOMEDCT_US:18876004|UMLS:C0239589 hp.json Finger pain http://purl.obolibrary.org/obo/HP_0030837 HP:0030838 biolink:PhenotypicFeature Hip pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. UMLS:C0019559|SNOMEDCT_US:49218002 hp.json Hip pain http://purl.obolibrary.org/obo/HP_0030838 HP:0030839 biolink:PhenotypicFeature Knee pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. SNOMEDCT_US:30989003|UMLS:C0231749 hp.json Pain under knee cap|Knee pain http://purl.obolibrary.org/obo/HP_0030839 HP:0003241 biolink:PhenotypicFeature External genital hypoplasia Underdevelopment of part or all of the external reproductive organs. UMLS:C1855333 hp.json Hypogenitalism|Underdevelopment of external reproductive organs|Small genitalia http://purl.obolibrary.org/obo/HP_0003241 HP:0003240 biolink:PhenotypicFeature Increased phosphoribosylpyrophosphate synthetase level Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. UMLS:C4025637 hp.json Increased phosphoribosyl pyrophosphate synthetase activity|Increased PRPS1 activity http://purl.obolibrary.org/obo/HP_0003240 UBERON:0015165 biolink:AnatomicalEntity multi-unit eye An eye consisting of multiple light-sensing organs. hp.json http://purl.obolibrary.org/obo/UBERON_0015165 UBERON:0015161 biolink:AnatomicalEntity inferior branch of oculomotor nerve The inferior branch of the oculomotor nerve or the inferior division, the larger, divides into three branches. One passes beneath the optic nerve to the medial rectus. Another, to the inferior rectus. The third and longest runs forward between the inferior recti and lateralis to the inferior oblique. From the last a short thick branch is given off to the lower part of the ciliary ganglion, and forms its short root. All these branches enter the muscles on their ocular surfaces, with the exception of the nerve to the inferior oblique, which enters the muscle at its posterior border. FMA:52573|AAO:0010632 hp.json ramus inferior (nervus oculomotorius [III])|ramus inferior nervus oculomotorii|inferior division of oculomotor nerve|inferior ramus of oculomotor nerve|ventral ramus of occulomotor nerve|ventral ramus of oculomotor nerve|oculomotor nerve inferior division|ramus inferior nervi oculomotorii http://purl.obolibrary.org/obo/UBERON_0015161 HP:0030844 biolink:PhenotypicFeature Undetectable pattern electroretinogram Absent response to a pattern electroretinogram (PERG). UMLS:C4280746 hp.json http://purl.obolibrary.org/obo/HP_0030844 HP:0003258 biolink:PhenotypicFeature Glyoxalase deficiency UMLS:C3279658 hp.json http://purl.obolibrary.org/obo/HP_0003258 HP:0030845 biolink:PhenotypicFeature Heliotrope rash of eyelid Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. UMLS:C4280745 hp.json http://purl.obolibrary.org/obo/HP_0030845 HP:0003256 biolink:PhenotypicFeature Abnormality of the coagulation cascade An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. UMLS:C0005779|SNOMEDCT_US:362970003|MSH:D001778|SNOMEDCT_US:64779008 hp.json Coagulopathy http://purl.obolibrary.org/obo/HP_0003256 HP:0030846 biolink:PhenotypicFeature Abnormality of venous physiology An anomaly of venous function. UMLS:C4280744 hp.json http://purl.obolibrary.org/obo/HP_0030846 HP:0030847 biolink:PhenotypicFeature Abnormal jugular venous pressure An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure. UMLS:C0520860|SNOMEDCT_US:62436006 hp.json http://purl.obolibrary.org/obo/HP_0030847 HP:0030840 biolink:PhenotypicFeature Ankle pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. SNOMEDCT_US:202490009|UMLS:C0238656|SNOMEDCT_US:247373008 hp.json Ankle pain http://purl.obolibrary.org/obo/HP_0030840 HP:0030841 biolink:PhenotypicFeature Toe pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe. SNOMEDCT_US:285365001|UMLS:C0241416 hp.json Toe pain http://purl.obolibrary.org/obo/HP_0030841 HP:0030842 biolink:PhenotypicFeature Choking episodes Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. UMLS:C4280747 hp.json http://purl.obolibrary.org/obo/HP_0030842 HP:0003259 biolink:PhenotypicFeature Elevated circulating creatinine concentration An increased amount of creatinine in the blood. UMLS:C0700225|SNOMEDCT_US:166717003 hp.json High blood creatinine level|Elevated serum creatinine|Elevated creatinine|Increased serum creatinine|Increased creatinine http://purl.obolibrary.org/obo/HP_0003259 HP:0030843 biolink:PhenotypicFeature Cardiac amyloidosis Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. SNOMEDCT_US:16573007|UMLS:C0268407 hp.json Amyloid cardiomyopathy http://purl.obolibrary.org/obo/HP_0030843 HP:0003250 biolink:PhenotypicFeature Aplasia of the vagina Aplasia of the vagina. UMLS:C0220763|UMLS:C1321884|MSH:C536523|UMLS:C1841990|SNOMEDCT_US:87380008|SNOMEDCT_US:248871003 hp.json Absent vagina|Congenital absence of the vagina http://purl.obolibrary.org/obo/HP_0003250 HP:0003254 biolink:PhenotypicFeature Abnormality of DNA repair An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage. UMLS:C4021848 hp.json http://purl.obolibrary.org/obo/HP_0003254 GO:0031076 biolink:BiologicalProcess embryonic camera-type eye development The process occurring during the embryonic phase whose specific outcome is the progression of the eye over time, from its formation to the mature structure. hp.json embryonic eye development http://purl.obolibrary.org/obo/GO_0031076 HP:0030848 biolink:PhenotypicFeature Elevated jugular venous pressure Increased jugular venous pressure. UMLS:C0520861|SNOMEDCT_US:22447003 hp.json http://purl.obolibrary.org/obo/HP_0030848 HP:0030849 biolink:PhenotypicFeature Hepatojugular reflux The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux. UMLS:C0239949|SNOMEDCT_US:72196001 hp.json http://purl.obolibrary.org/obo/HP_0030849 HP:0003252 biolink:PhenotypicFeature Anteriorly displaced genitalia UMLS:C1848653 hp.json http://purl.obolibrary.org/obo/HP_0003252 HP:0003251 biolink:PhenotypicFeature Male infertility MSH:D007248|UMLS:C0021364|SNOMEDCT_US:2904007 hp.json Male infertility http://purl.obolibrary.org/obo/HP_0003251 UBERON:0005749 biolink:AnatomicalEntity glomerular tuft The capillary loops of the kidney that normally function as a filtration unit[MP]. EMAPA:28239 hp.json glomerulus|glomerular capillary tuft http://purl.obolibrary.org/obo/UBERON_0005749 pheno_slim UBERON:0017732 biolink:AnatomicalEntity raphe of scrotum A ridge of tissue that extends along the midline of the scrotum. FMA:75130 hp.json scrotal raphe http://purl.obolibrary.org/obo/UBERON_0017732 pheno_slim HP:0005807 biolink:PhenotypicFeature Absent distal phalanges Aplasia (absence) of the distal phalanges. UMLS:C1861339 hp.json Absent outermost digital bones http://purl.obolibrary.org/obo/HP_0005807 HP:0005802 biolink:PhenotypicFeature Coalescence of tarsal bones UMLS:C4025130 hp.json http://purl.obolibrary.org/obo/HP_0005802 GO:0021700 biolink:BiologicalProcess developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. hp.json http://purl.obolibrary.org/obo/GO_0021700 goslim_chembl GO:0021703 biolink:BiologicalProcess locus ceruleus development The process whose specific outcome is the progression of the locus ceruleus over time, from its formation to the mature structure. The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic. hp.json locus coeruleus development|locus caeruleus development http://purl.obolibrary.org/obo/GO_0021703 UBERON:0005754 biolink:AnatomicalEntity rostral part of nephrogenic cord The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. hp.json http://purl.obolibrary.org/obo/UBERON_0005754 GO:0021704 biolink:BiologicalProcess locus ceruleus morphogenesis The process in which the anatomical structure of the locus ceruleus is generated and organized. In mice, the locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic. hp.json http://purl.obolibrary.org/obo/GO_0021704 UBERON:0005753 biolink:AnatomicalEntity caudal part of nephrogenic cord The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. hp.json rear portion of nephrogenic cord|rear part of nephrogenic cord|caudal portion of nephrogenic cord|caudal region of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005753 GO:0021705 biolink:BiologicalProcess locus ceruleus formation The process that gives rise to the locus ceruleus. This process pertains to the initial formation of a structure from unspecified parts. In mice, the locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic. hp.json http://purl.obolibrary.org/obo/GO_0021705 GO:0021706 biolink:BiologicalProcess locus ceruleus maturation A developmental process, independent of morphogenetic (shape) change, that is required for the locus ceruleus to attain its fully functional state. The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic. hp.json http://purl.obolibrary.org/obo/GO_0021706 GO:0043062 biolink:BiologicalProcess extracellular structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. hp.json extracellular structure organisation|extracellular structure organization and biogenesis http://purl.obolibrary.org/obo/GO_0043062 goslim_pir HP:0005819 biolink:PhenotypicFeature Short middle phalanx of finger Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. UMLS:C1846950 hp.json Hypoplasia of the middle phalanges of the hand|Short middle phalanges|Hypoplastic middle phalanx|Hypoplastic middle phalanges|Brachymesophalangy|Shortened middle finger bones|Short middle bone of finger|Disproportionately short middle phalanges|Midphalangeal hypoplasia http://purl.obolibrary.org/obo/HP_0005819 GO:0043069 biolink:BiologicalProcess negative regulation of programmed cell death Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. hp.json down-regulation of programmed cell death|down regulation of programmed cell death|inhibition of programmed cell death|negative regulation of non-apoptotic programmed cell death|downregulation of programmed cell death http://purl.obolibrary.org/obo/GO_0043069 GO:0043068 biolink:BiologicalProcess positive regulation of programmed cell death Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. hp.json activation of programmed cell death|stimulation of programmed cell death|upregulation of programmed cell death|positive regulation of non-apoptotic programmed cell death|up-regulation of programmed cell death|up regulation of programmed cell death http://purl.obolibrary.org/obo/GO_0043068 GO:0043065 biolink:BiologicalProcess positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. hp.json upregulation of apoptosis|pro-apoptosis|up-regulation of apoptosis|positive regulation of apoptosis|up regulation of apoptosis|activation of apoptosis|stimulation of apoptosis http://purl.obolibrary.org/obo/GO_0043065 goslim_chembl HP:0005815 biolink:PhenotypicFeature Supernumerary ribs The presence of more than 12 rib pairs. SNOMEDCT_US:205460009|UMLS:C0345397 hp.json Extra ribs http://purl.obolibrary.org/obo/HP_0005815 hposlim_core GO:0043067 biolink:BiologicalProcess regulation of programmed cell death Any process that modulates the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. hp.json regulation of non-apoptotic programmed cell death http://purl.obolibrary.org/obo/GO_0043067 HP:0005817 biolink:PhenotypicFeature Postaxial polysyndactyly of foot Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe). UMLS:C4021824 hp.json http://purl.obolibrary.org/obo/HP_0005817 GO:0043066 biolink:BiologicalProcess negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. hp.json down-regulation of apoptosis|down regulation of apoptosis|apoptosis inhibitor activity|downregulation of apoptosis|inhibition of apoptosis|negative regulation of apoptosis|pro-survival|anti-apoptosis http://purl.obolibrary.org/obo/GO_0043066 UBERON:0017716 biolink:AnatomicalEntity thenar eminence A raised fleshy area on the palm of the hand near the base of the thumb. FMA:61520 hp.json thenar part of palm http://purl.obolibrary.org/obo/UBERON_0017716 pheno_slim UBERON:0017717 biolink:AnatomicalEntity hypothenar eminence Hypothenar refers to a group of three muscles of the palm that control the motion of the little finger. The three muscles are: Abductor digiti minimi Flexor digiti minimi Opponens digiti minimi. FMA:61523 hp.json hypothenar part of palm http://purl.obolibrary.org/obo/UBERON_0017717 pheno_slim UBERON:0005745 biolink:AnatomicalEntity optic foramen An opening in the skull through which cranial nerve II passes.[MP]. AAO:0000342|FMA:54774|EMAPA:18716|EHDAA:10646|ZFA:0005428|VHOG:0001408|EHDAA2:0001312|TAO:0002025 hp.json optic canal|optic nerve foramen|canalis opticus|foramen opticum ossis sphenoidalis|optic foramen|optic nerve (II) foramen http://purl.obolibrary.org/obo/UBERON_0005745 vertebrate_core|pheno_slim GO:0070664 biolink:BiologicalProcess negative regulation of leukocyte proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of leukocyte proliferation. hp.json down-regulation of leukocyte proliferation|down regulation of leukocyte proliferation|inhibition of leukocyte proliferation|downregulation of leukocyte proliferation http://purl.obolibrary.org/obo/GO_0070664 GO:0070665 biolink:BiologicalProcess positive regulation of leukocyte proliferation Any process that activates or increases the frequency, rate or extent of leukocyte proliferation. hp.json upregulation of leukocyte proliferation|up-regulation of leukocyte proliferation|up regulation of leukocyte proliferation|activation of leukocyte proliferation|stimulation of leukocyte proliferation http://purl.obolibrary.org/obo/GO_0070665 UBERON:0005744 biolink:AnatomicalEntity bone foramen Anatomical space that is an opening in a bone, usually for passage of blood vessels or nerves. TAO:0001736|VHOG:0001760|AAO:0010438|ZFA:0005386 hp.json foramen http://purl.obolibrary.org/obo/UBERON_0005744 vertebrate_core UBERON:0005742 biolink:AnatomicalEntity adventitia An outermost connective tissue covering of an organ, vessel, or other structure[WP]. BTO:0002010|SCTID:30180000|Wikipedia:Adventitia|FMA:45635|MESH:D063194 hp.json tunica advetitia|tunica externa|tunica advetitia http://purl.obolibrary.org/obo/UBERON_0005742 human_reference_atlas|grouping_class GO:0070663 biolink:BiologicalProcess regulation of leukocyte proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. hp.json http://purl.obolibrary.org/obo/GO_0070663 GO:0070661 biolink:BiologicalProcess leukocyte proliferation The expansion of a leukocyte population by cell division. hp.json http://purl.obolibrary.org/obo/GO_0070661 UBERON:0005740 biolink:AnatomicalEntity tunica intima of artery A tunica intima that is part of a artery. galen:IntimaOfArtery|EV:0100028|SCTID:40022005|FMA:14272|EMAPA:36293 hp.json tunica interna (intima)(arteriae)|arterial intima http://purl.obolibrary.org/obo/UBERON_0005740 GO:0043073 biolink:CellularComponent germ cell nucleus The nucleus of a germ cell, a reproductive cell in multicellular organisms. hp.json germ-cell nucleus http://purl.obolibrary.org/obo/GO_0043073 UBERON:0005729 biolink:AnatomicalEntity pectoral appendage field A limb/fin field that has the potential to develop into a pectoral appendage bud mesenchyme. ZFA:0001453|TAO:0001453 hp.json pectoral fin field|pectoral appendage field of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005729 UBERON:0005728 biolink:AnatomicalEntity extraembryonic mesoderm . VHOG:0000616|EHDAA2:0000474|EMAPA:31863|EMAPA:31862|FMA:296719 hp.json extra-embryonic mesoderm|extraembryonic mesenchyme http://purl.obolibrary.org/obo/UBERON_0005728 UBERON:0005726 biolink:AnatomicalEntity chemosensory system BILA:0000139 hp.json http://purl.obolibrary.org/obo/UBERON_0005726 functional_classification GO:0055059 biolink:BiologicalProcess asymmetric neuroblast division The process resulting in the physical partitioning and separation of a neuroblast into two daughter cells with different developmental potentials. hp.json http://purl.obolibrary.org/obo/GO_0055059 UBERON:0005734 biolink:AnatomicalEntity tunica adventitia of blood vessel The outermost layer of a blood vessel, composed mainly of fibrous tissue. UMLS:C0225342|NCIT:C33818|Wikipedia:Tunica_externa_(vessels)|BTO:0002010|EMAPA:36299|SCTID:61066005 hp.json adventitia externa|tunica adventitia|external coat|tunica adventitia of vessel|tunica adventitia vasorum|tunica adventitia vasorum|adventitia externa|tunica adventitia|tunica adventitia of vessel|external coat|tunica externa vasorum|tunica externa vasorum http://purl.obolibrary.org/obo/UBERON_0005734 UBERON:0005733 biolink:AnatomicalEntity limb field A ring of cells capable of forming a limb. hp.json limb field of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005733 UBERON:0005732 biolink:AnatomicalEntity paired limb/fin field A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. hp.json limb/fin field of lateral plate mesoderm|paired limb/fin field http://purl.obolibrary.org/obo/UBERON_0005732 homology_grouping UBERON:0005730 biolink:AnatomicalEntity pelvic appendage field A limb/fin field that has the potential to develop into a pelvic appendage bud mesenchyme. ZFA:0001454|TAO:0001454 hp.json pelvic appendage field of lateral plate mesoderm|pelvic fin field http://purl.obolibrary.org/obo/UBERON_0005730 GO:0055057 biolink:BiologicalProcess neuroblast division The process resulting in the physical partitioning and separation of a neuroblast into daughter cells. A neuroblast is any cell that will divide and give rise to a neuron. hp.json neuroblast cell division http://purl.obolibrary.org/obo/GO_0055057 GO:0043085 biolink:BiologicalProcess positive regulation of catalytic activity Any process that activates or increases the activity of an enzyme. hp.json up-regulation of metalloenzyme activity|stimulation of metalloenzyme activity|up-regulation of enzyme activity|positive regulation of enzyme activity|activation of metalloenzyme activity|upregulation of metalloenzyme activity|up regulation of enzyme activity|activation of enzyme activity|positive regulation of metalloenzyme activity|stimulation of enzyme activity|up regulation of metalloenzyme activity|upregulation of enzyme activity http://purl.obolibrary.org/obo/GO_0043085 goslim_chembl GO:0043084 biolink:BiologicalProcess penile erection The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. Wikipedia:Erection#Penile_erection hp.json http://purl.obolibrary.org/obo/GO_0043084 UBERON:0005719 biolink:AnatomicalEntity footplate apical ectodermal ridge An apical ectodermal ridge that is part of a footplate. EMAPA:17251|EHDAA2:0000547 hp.json http://purl.obolibrary.org/obo/UBERON_0005719 GO:0043086 biolink:BiologicalProcess negative regulation of catalytic activity Any process that stops or reduces the activity of an enzyme. hp.json down-regulation of enzyme activity|downregulation of metalloenzyme activity|down regulation of enzyme activity|down regulation of metalloenzyme activity|inhibition of enzyme activity|downregulation of enzyme activity|negative regulation of metalloenzyme activity|negative regulation of enzyme activity|inhibition of metalloenzyme activity|down-regulation of metalloenzyme activity http://purl.obolibrary.org/obo/GO_0043086 CHEBI:20392 biolink:ChemicalSubstance 4-hydroxyproline A monohydroxyproline where the hydroxy group is located at the 4-position. It is found in fibrillar collagen. PMID:436278|PMID:21988268|PMID:24695516|Wikipedia:Hydroxyproline|PMID:24563386 hp.json 4-hydroxyproline|4Hyp http://purl.obolibrary.org/obo/CHEBI_20392 3_STAR HP:0030800 biolink:PhenotypicFeature Abnormal visual accommodation An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power. UMLS:C4280760 hp.json http://purl.obolibrary.org/obo/HP_0030800 GO:0055062 biolink:BiologicalProcess phosphate ion homeostasis Any process involved in the maintenance of an internal steady state of phosphate ions within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0055062 HP:0030801 biolink:PhenotypicFeature Reduced visual accommodation A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances. UMLS:C4280759 hp.json http://purl.obolibrary.org/obo/HP_0030801 GO:0055063 biolink:BiologicalProcess sulfate ion homeostasis Any process involved in the maintenance of an internal steady state of sulfate ions within an organism or cell. hp.json sulphate ion homeostasis|sulfate homeostasis http://purl.obolibrary.org/obo/GO_0055063 HP:0030802 biolink:PhenotypicFeature Lower eyelid retraction Inferior malposition of the lower eyelid margin without eyelid eversion. UMLS:C1861656|SNOMEDCT_US:700264006 hp.json http://purl.obolibrary.org/obo/HP_0030802 HP:0030803 biolink:PhenotypicFeature Platonychia Abnormal flat nail. UMLS:C1853986 hp.json http://purl.obolibrary.org/obo/HP_0030803 GO:0055064 biolink:BiologicalProcess chloride ion homeostasis Any process involved in the maintenance of an internal steady state of chloride ions within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0055064 UBERON:0005725 biolink:AnatomicalEntity olfactory system A sensory system that is capable of olfaction (the sensory perception of smell). UMLS:C0228065|AAO:0000334|EFO:0001973|NLXANAT:090806|XAO:0003196|BILA:0000144|NCIT:C94501|FMA:7190|EMAPA:36004|ZFA:0001149|AAO:0000978|OpenCyc:Mx4rvViw75wpEbGdrcN5Y29ycA|TAO:0001149|MA:0002445 hp.json http://purl.obolibrary.org/obo/UBERON_0005725 pheno_slim|efo_slim|vertebrate_core GO:0055069 biolink:BiologicalProcess zinc ion homeostasis Any process involved in the maintenance of an internal steady state of zinc ions within an organism or cell. hp.json zinc homeostasis http://purl.obolibrary.org/obo/GO_0055069 HP:0030808 biolink:PhenotypicFeature Ragged cuticle The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle. UMLS:C4280756 hp.json http://purl.obolibrary.org/obo/HP_0030808 UBERON:0005724 biolink:AnatomicalEntity roof plate spinal cord region A tissue that is part of a spinal cord and is part of a roof plate. TAO:0001177|VHOG:0000777|EMAPA:17586|XAO:0000022|ZFA:0001177 hp.json spinal cord roof|roofplate spinal cord|roof plate spinal cord http://purl.obolibrary.org/obo/UBERON_0005724 HP:0030809 biolink:PhenotypicFeature Abnormal tongue morphology Any structural anomaly of the tongue. UMLS:C4280755 hp.json http://purl.obolibrary.org/obo/HP_0030809 UBERON:0005721 biolink:AnatomicalEntity pronephric mesoderm A mesoderm that has the potential to develop into a pronephros. TAO:0000067|VHOG:0001239|EFO:0003479|ZFA:0000067|XAO:0000264|AAO:0011090 hp.json pronephric mesenchyme|pronephric bulge|pronephric primordium|pronephric anlage http://purl.obolibrary.org/obo/UBERON_0005721 efo_slim HP:0030804 biolink:PhenotypicFeature Trachyonychia Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. SNOMEDCT_US:69192004|UMLS:C0546956 hp.json http://purl.obolibrary.org/obo/HP_0030804 GO:0055065 biolink:BiologicalProcess metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0055065 goslim_generic|prokaryote_subset|goslim_pombe UBERON:0005720 biolink:AnatomicalEntity hindbrain venous system A venous system that is part of a hindbrain. VHOG:0001322|EMAPA:18632|EHDAA2:0000776 hp.json rhombencephalon venous system http://purl.obolibrary.org/obo/UBERON_0005720 HP:0030805 biolink:PhenotypicFeature Absent lunula Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail. UMLS:C4280758 hp.json Lunula absent|Lunulae absent|Absent lunulae http://purl.obolibrary.org/obo/HP_0030805 GO:0055067 biolink:BiologicalProcess monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0055067 HP:0030806 biolink:PhenotypicFeature Fast-growing nails Nails whose growth is quicker than normal. UMLS:C4280757 hp.json http://purl.obolibrary.org/obo/HP_0030806 HP:0030807 biolink:PhenotypicFeature Abnormal nail growth Nail whose growth pattern or speed deviates from normal. UMLS:C1610609 hp.json http://purl.obolibrary.org/obo/HP_0030807 UBERON:0015111 biolink:AnatomicalEntity distal tarsal bone 4 endochondral element hp.json distal tarsal 4 http://purl.obolibrary.org/obo/UBERON_0015111 UBERON:0015110 biolink:AnatomicalEntity distal tarsal bone 3 pre-cartilage condensation A distal tarsal bone 3 endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015110 UBERON:0015116 biolink:AnatomicalEntity distal tarsal bone 5 pre-cartilage condensation A distal tarsal bone 5 endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015116 HGNC:6563 biolink:Gene LGALS3 (human) A protein coding gene LGALS3 in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6563 UBERON:0015113 biolink:AnatomicalEntity distal tarsal bone 4 pre-cartilage condensation A distal tarsal bone 4 endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015113 HP:0005848 biolink:PhenotypicFeature obsolete Bifid thumb distal phalanx hp.json http://purl.obolibrary.org/obo/HP_0005848 UBERON:0015112 biolink:AnatomicalEntity distal tarsal bone 4 cartilage A distal tarsal bone 4 endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015112 HP:0005849 biolink:PhenotypicFeature Diffuse cerebral calcification Generalized deposition of calcium salts within the brain. UMLS:C4025125 hp.json http://purl.obolibrary.org/obo/HP_0005849 UBERON:0015115 biolink:AnatomicalEntity distal tarsal bone 5 cartilage A distal tarsal bone 5 endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015115 UBERON:0015114 biolink:AnatomicalEntity distal tarsal bone 5 endochondral element hp.json distal tarsal 5 http://purl.obolibrary.org/obo/UBERON_0015114 HP:0005844 biolink:PhenotypicFeature Rounded middle phalanx of finger An abnormally round shape of the middle phalanx of the finger. UMLS:C4025126 hp.json Rounded middle bone of finger http://purl.obolibrary.org/obo/HP_0005844 GO:0055072 biolink:BiologicalProcess iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell. hp.json iron homeostasis http://purl.obolibrary.org/obo/GO_0055072 UBERON:0005792 biolink:AnatomicalEntity nephric ridge Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. EHDAA:1015|EHDAA2:0001242|EMAPA:16368|VHOG:0001240 hp.json nephric cord http://purl.obolibrary.org/obo/UBERON_0005792 GO:0055074 biolink:BiologicalProcess calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. hp.json regulation of calcium ion concentration http://purl.obolibrary.org/obo/GO_0055074 UBERON:0015109 biolink:AnatomicalEntity distal tarsal bone 3 cartilage A distal tarsal bone 3 endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015109 HP:0005841 biolink:PhenotypicFeature Calcific stippling of infantile cartilaginous skeleton UMLS:C1859135 hp.json http://purl.obolibrary.org/obo/HP_0005841 GO:0055071 biolink:BiologicalProcess manganese ion homeostasis Any process involved in the maintenance of an internal steady state of manganese ions within an organism or cell. hp.json manganese homeostasis http://purl.obolibrary.org/obo/GO_0055071 GO:0055076 biolink:BiologicalProcess transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. hp.json http://purl.obolibrary.org/obo/GO_0055076 UBERON:0003135 biolink:AnatomicalEntity male reproductive organ A male organ involved in reproduction. MA:0000545|WBbt:0008423 hp.json male reproductive system organ|reproductive organ of male organism|male genital|reproductive structure of male organism|male organism sex organ|male organism reproductive structure|male organism reproductive system organ|reproductive system organ of male organism|male organism reproductive organ|sex organ of male organism|male reproductive gland/organ|male sex organ http://purl.obolibrary.org/obo/UBERON_0003135 organ_slim|pheno_slim UBERON:0003133 biolink:AnatomicalEntity reproductive organ An organ involved in reproduction. MA:0001752|MESH:D005835|TGMA:0000591|UMLS:C0017420|OpenCyc:Mx4rwO39aJwpEbGdrcN5Y29ycA|SCTID:128181006|EMAPA:37731|EMAPA:17381|NCIT:C25177|WBbt:0008422 hp.json sex organ|genital organ|reproductive system organ|genitalia http://purl.obolibrary.org/obo/UBERON_0003133 functional_classification|organ_slim|pheno_slim UBERON:0003134 biolink:AnatomicalEntity female reproductive organ A female organ involved in reproduction. MA:0000544|EMAPA:28540 hp.json female reproductive system organ|reproductive structure of female organism|female organism sex organ|female organism reproductive system organ|female organism reproductive structure|reproductive system organ of female organism|female organism reproductive organ|female reproductive gland/organ|sex organ of female organism|female sex organ|reproductive organ of female organism http://purl.obolibrary.org/obo/UBERON_0003134 organ_slim|pheno_slim UBERON:0005795 biolink:AnatomicalEntity embryonic uterus FMA:72173|SCTID:255782009 hp.json fetal uterus http://purl.obolibrary.org/obo/UBERON_0005795 UBERON:0015100 biolink:AnatomicalEntity distal tarsal cartilage A distal tarsal endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015100 UBERON:0003119 biolink:AnatomicalEntity pharyngeal arch artery 2 The vessels formed within the second pair of branchial arches in embryogenesis. VHOG:0000148|EHDAA2:0000051|AAO:0010418|EMAPA:16203|EMAPA:16686|XAO:0000343|Wikipedia:Aortic_arches#Arches_1_and_2|SCTID:308775002|ZFA:0005006|TAO:0005006 hp.json second aortic arch|aortic arch 2|2nd aortic arch artery|2nd pharyngeal arch artery|2nd branchial arch artery|hyoid aortic arch|2nd arch artery|second branchial arch artery|AA2 http://purl.obolibrary.org/obo/UBERON_0003119 vertebrate_core|pheno_slim UBERON:0015106 biolink:AnatomicalEntity distal tarsal bone 2 cartilage A distal tarsal bone 2 endochondral element that is composed primarily of cartilage tissue. hp.json distal tarsal 2 cartilage|distal tarsal 2 cartilage element http://purl.obolibrary.org/obo/UBERON_0015106 UBERON:0015105 biolink:AnatomicalEntity distal tarsal bone 2 endochondral element hp.json distal tarsal 2 http://purl.obolibrary.org/obo/UBERON_0015105 UBERON:0015108 biolink:AnatomicalEntity distal tarsal bone 3 endochondral element hp.json distal tarsal 3 http://purl.obolibrary.org/obo/UBERON_0015108 UBERON:0015107 biolink:AnatomicalEntity distal tarsal bone 2 pre-cartilage condensation A distal tarsal bone 2 endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015107 UBERON:0015102 biolink:AnatomicalEntity distal tarsal bone 1 endochondral element hp.json distal tarsal 1 http://purl.obolibrary.org/obo/UBERON_0015102 UBERON:0015101 biolink:AnatomicalEntity distal tarsal bone pre-cartilage condensation A distal tarsal endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015101 UBERON:0015104 biolink:AnatomicalEntity distal tarsal bone 1 pre-cartilage condensation A distal tarsal bone 1 endochondral element that is composed primarily of a pre-cartilage condensation. hp.json http://purl.obolibrary.org/obo/UBERON_0015104 UBERON:0015103 biolink:AnatomicalEntity distal tarsal bone 1 cartilage A distal tarsal bone 1 endochondral element that is composed primarily of cartilage tissue. hp.json distal tarsal 1 cartilage|distal tarsal 1 cartilage element http://purl.obolibrary.org/obo/UBERON_0015103 GO:0055083 biolink:BiologicalProcess monovalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic anions within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0055083 UBERON:0003120 biolink:AnatomicalEntity pharyngeal arch artery 3 The vessels formed within the third pair of branchial arches in embryogenesis. XAO:0000344|ZFA:0005007|SCTID:308776001|TAO:0005007|Wikipedia:Aortic_arches#Arch_3|VHOG:0000147|AAO:0010419|EHDAA2:0000070|EMAPA:16687 hp.json carotid arch|third branchial arch artery|carotid arch|3rd arch artery|AA3|3rd branchial arch artery|third aortic arch|3rd aortic arch artery|aortic arch 3|3rd pharyngeal arch artery http://purl.obolibrary.org/obo/UBERON_0003120 vertebrate_core|pheno_slim HP:0005855 biolink:PhenotypicFeature Multiple prenatal fractures The presence of bone fractures in the prenatal period that are diagnosed at birth or before. UMLS:C1853171 hp.json Numerous multiple fractures that are present at birth|Numerous multiple fractures present at birth|Multiple fractures, present at birth|Congenital bone fractures|Multiple fractures present at birth http://purl.obolibrary.org/obo/HP_0005855 UBERON:0003121 biolink:AnatomicalEntity pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis. XAO:0000355|ZFA:0005008|SCTID:308777005|EMAPA:17004|TAO:0005008|AAO:0010420|Wikipedia:Aortic_arches#Arch_4|EHDAA2:0000087 hp.json 4th pharyngeal arch artery|fourth branchial arch artery|4th branchial arch artery|systemic arch|fourth aortic arch|AA4|4th arch artery|4th aortic arch artery|aortic arch 4 http://purl.obolibrary.org/obo/UBERON_0003121 vertebrate_core|pheno_slim HP:0005856 biolink:PhenotypicFeature Ulnar radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction. UMLS:C4021619 hp.json Ulnar dislocation of radial heads http://purl.obolibrary.org/obo/HP_0005856 GO:0055085 biolink:BiologicalProcess transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. hp.json membrane transport|ATP hydrolysis coupled transmembrane transport http://purl.obolibrary.org/obo/GO_0055085 goslim_yeast|goslim_generic|goslim_pombe|goslim_drosophila|goslim_chembl HP:0005857 biolink:PhenotypicFeature Cervical spina bifida SNOMEDCT_US:32232003|UMLS:C0266501 hp.json http://purl.obolibrary.org/obo/HP_0005857 GO:0055086 biolink:BiologicalProcess nucleobase-containing small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. hp.json nucleobase, nucleoside and nucleotide metabolic process|nucleobase, nucleoside and nucleotide metabolism http://purl.obolibrary.org/obo/GO_0055086 goslim_generic|goslim_yeast|prokaryote_subset|goslim_pombe|goslim_drosophila HP:0005852 biolink:PhenotypicFeature Limited elbow extension and supination UMLS:C4025124 hp.json http://purl.obolibrary.org/obo/HP_0005852 GO:0055080 biolink:BiologicalProcess cation homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0055080 GO:0055081 biolink:BiologicalProcess anion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0055081 HP:0005853 biolink:PhenotypicFeature Congenital foot contraction deformities UMLS:C4025123 hp.json http://purl.obolibrary.org/obo/HP_0005853 GO:0055082 biolink:BiologicalProcess cellular chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. hp.json http://purl.obolibrary.org/obo/GO_0055082 UBERON:0003128 biolink:AnatomicalEntity cranium Upper portion of the skull that excludes the mandible (when present in the organism). MA:0000316|MIAA:0000340|SCTID:181889008|OpenCyc:Mx4rvVlEyJwpEbGdrcN5Y29ycA|FMA:71325|BTO:0001328|EFO:0000831|EHDAA:6029|Wikipedia:Cranium_(anatomy)|EMAPA:17680|MAT:0000340|VHOG:0000334 hp.json bones of cranium|upper part of skull|skull minus mandible|set of bones of cranium|epicranial plate|calvarium|skeletal system of head|ossa cranii http://purl.obolibrary.org/obo/UBERON_0003128 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0003129 biolink:AnatomicalEntity skull Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]. UMLS:C0037303|FMA:46565|BTO:0001295|GAID:82|CALOHA:TS-2344|OpenCyc:Mx4rvVjOsZwpEbGdrcN5Y29ycA|galen:Skull|NCIT:C12789|EHDAA2:0000325|MESH:D012886|Wikipedia:Skull|SCTID:110530005|EMAPA:17680|WikipediaCategory:Skull hp.json cranial skeleton|skeletal system of head http://purl.obolibrary.org/obo/UBERON_0003129 uberon_slim|pheno_slim UBERON:0003126 biolink:AnatomicalEntity trachea The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]. EMAPA:16853|NCIT:C12428|EFO:0000935|VHOG:0000371|MAT:0000137|MA:0000441|GAID:361|EHDAA:3078|CALOHA:TS-1060|FMA:7394|MIAA:0000137|BTO:0001388|EHDAA2:0002066|OpenCyc:Mx4rvViOX5wpEbGdrcN5Y29ycA|XAO:0000118|MESH:D014132|AAO:0010140|EV:0100040|UMLS:C0040578 hp.json cartilaginous trachea|vertebrate trachea|tracheal tubule|windpipe http://purl.obolibrary.org/obo/UBERON_0003126 uberon_slim|major_organ|pheno_slim|efo_slim|human_reference_atlas UBERON:0005788 biolink:AnatomicalEntity lamina rara interna Layer of the glomerular basement membrane adjacent to the glomerular capillary. NCIT:C32920|UMLS:C1517719|ZFA:0005287|FMA:74277|TAO:0005287 hp.json internal layer of glomerular basement membrane|lamina interna of glomerular basement membrane http://purl.obolibrary.org/obo/UBERON_0005788 vertebrate_core HP:0005850 biolink:PhenotypicFeature Congenital talipes calcaneovalgus UMLS:C0152237|SNOMEDCT_US:31668003|MSH:D005413|SNOMEDCT_US:205083002 hp.json http://purl.obolibrary.org/obo/HP_0005850 UBERON:0003124 biolink:AnatomicalEntity chorion membrane The outermost extraembryonic membrane of amniotes. EFO:0002780|CALOHA:TS-0144|MESH:D002823|UMLS:C1516505|Wikipedia:Chorion|EMAPA:16112|UMLS:C0008503|FMA:80224|EHDAA2:0000245|NCIT:C34124|NCIT:C34122|MESH:A16.254.403.473|EV:0100121|GAID:1299|EHDAA:150|VHOG:0000200|BTO:0000252 hp.json fetal chorion|uterine chorion|chorion|chorionic sac|uterine chorion|chorion frondosum|chorion (vertebrates)|embryonic chorion|chorionic sac|chorion frondosum http://purl.obolibrary.org/obo/UBERON_0003124 uberon_slim|pheno_slim|efo_slim GO:0055088 biolink:BiologicalProcess lipid homeostasis Any process involved in the maintenance of an internal steady state of lipid within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0055088 UBERON:0003122 biolink:AnatomicalEntity pharyngeal arch artery 5 The vessels formed within the fifth pair of pharyngeal arches in embryogenesis. ZFA:0005009|XAO:0000352|TAO:0005009|AAO:0010421|VHOG:0000145 hp.json fifth aortic arch|AA5|aortic arch 5 http://purl.obolibrary.org/obo/UBERON_0003122 vertebrate_core UBERON:0003123 biolink:AnatomicalEntity pharyngeal arch artery 6 The vessels formed within the sixth pair of branchial arches in embryogenesis. SCTID:308779008|EMAPA:17005|XAO:0000353|ZFA:0005016|AAO:0010422|EHDAA2:0000102|Wikipedia:Aortic_arches#Arch_6|TAO:0005016|VHOG:0000144 hp.json 6th aortic arch artery|6th arch artery|6th pharyngeal arch artery|AA6|6th branchial arch artery|pulmonary arch|sixth branchial arch artery|aortic arch 6|sixth aortic arch http://purl.obolibrary.org/obo/UBERON_0003123 vertebrate_core|pheno_slim UBERON:0017750 biolink:AnatomicalEntity proximal mesopodial endochondral element A mesopodial endochondral element that is in the most proximal part of the mesopodial skeleton, connected to the zeugopodial skeleton. hp.json http://purl.obolibrary.org/obo/UBERON_0017750 UBERON:0017751 biolink:AnatomicalEntity proximal mesopodial cartilage element A proximal mesopodial endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0017751 CHEBI:58958 biolink:ChemicalSubstance organosulfate oxoanion An organic anion of general formula RS(=O)2O(-) where R is an organyl group. hp.json organosulfate oxoanions http://purl.obolibrary.org/obo/CHEBI_58958 3_STAR HP:0005828 biolink:PhenotypicFeature Transient pulmonary infiltrates UMLS:C3805920 hp.json http://purl.obolibrary.org/obo/HP_0005828 HP:0005829 biolink:PhenotypicFeature Maldevelopment of radioulnar joint UMLS:C3149879 hp.json http://purl.obolibrary.org/obo/HP_0005829 UBERON:0003110 biolink:AnatomicalEntity otic region AAO:0010208|ZFA:0000189|TAO:0000189|XAO:0003175 hp.json cranial vault http://purl.obolibrary.org/obo/UBERON_0003110 HP:0005824 biolink:PhenotypicFeature Clinodactyly of the 2nd toe Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). UMLS:C4280473|UMLS:C4021620 hp.json Curvature of 2nd toe|Clinodactyly of second toes http://purl.obolibrary.org/obo/HP_0005824 HP:0005825 biolink:PhenotypicFeature Mixed sclerosis of humeral metaphyses UMLS:C4025128 hp.json http://purl.obolibrary.org/obo/HP_0005825 HP:0005820 biolink:PhenotypicFeature Superior rib anomalies UMLS:C4025129 hp.json http://purl.obolibrary.org/obo/HP_0005820 UBERON:0003117 biolink:AnatomicalEntity pharyngeal arch 6 The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles. SCTID:308772004|EHDAA2:0004075|TAO:0001601|XAO:0000453|AAO:0010368|ZFA:0001609|EMAPA:32766|FMA:293047|VHOG:0001205 hp.json fourth branchial arch|gill arch 4|sixth visceral arch|6th pharyngeal arch|sixth branchial arch|6th arch|6th visceral arch|sixth pharyngeal arch|visceral arch 6|branchial arch 4 http://purl.obolibrary.org/obo/UBERON_0003117 pheno_slim CHEBI:58956 biolink:ChemicalSubstance branched-chain saturated fatty acid anion Any saturated fatty acid anion with a carbon side-chain or isopropyl termination. hp.json branched-chain saturated fatty acid anions http://purl.obolibrary.org/obo/CHEBI_58956 3_STAR CHEBI:58955 biolink:ChemicalSubstance branched-chain fatty acid anion Any fatty acid anion with a carbon side-chain or isopropyl termination. hp.json branched-chain fatty acid anions http://purl.obolibrary.org/obo/CHEBI_58955 3_STAR UBERON:0003118 biolink:AnatomicalEntity pharyngeal arch artery 1 The vessels formed within the first pair of branchial arches in embryogenesis. EMAPA:16202|SCTID:308774003|AAO:0010415|EMAPA:16685|EHDAA2:0000007|XAO:0000342|ZFA:0005005|TAO:0005005|VHOG:0000149 hp.json 1st branchial arch artery|first branchial arch artery|aortic arch 1|first arch artery|first aortic arch|mandibular aortic arch|1st aortic arch artery|1st arch artery|AA1|1st pharyngeal arch artery http://purl.obolibrary.org/obo/UBERON_0003118 vertebrate_core|pheno_slim UBERON:0003115 biolink:AnatomicalEntity pharyngeal arch 4 Contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus. VHOG:0000299|EMAPA:16760|TAO:0001599|EHDAA:1663|AAO:0010366|ZFA:0001607|SCTID:308770007|FMA:293035|EHDAA2:0000086|XAO:0000449 hp.json 4th visceral arch|fourth visceral arch|visceral arch 4|4th branchial arch|second branchial arch|fourth pharyngeal arch|second gill arch|4th pharyngeal arch|4th arch|branchial arch 2|gill arch 2 http://purl.obolibrary.org/obo/UBERON_0003115 uberon_slim|vertebrate_core|pheno_slim CHEBI:58954 biolink:ChemicalSubstance straight-chain saturated fatty acid anion Any saturated fatty acid anion lacking a carbon side-chain. hp.json straight-chain saturated fatty acid anions http://purl.obolibrary.org/obo/CHEBI_58954 3_STAR UBERON:0005777 biolink:AnatomicalEntity glomerular basement membrane The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter. TAO:0005285|FMA:74274|MESH:D050533|EMAPA:30965|NCIT:C32683|EMAPA:28251|ZFA:0005285|UMLS:C0599297|MA:0001659 hp.json glomerular capillary basement membrane|glomerular filtration membrane|GBM http://purl.obolibrary.org/obo/UBERON_0005777 vertebrate_core|pheno_slim CHEBI:58953 biolink:ChemicalSubstance saturated fatty acid anion Any fatty acid anion in which there is no C-C unsaturation. hp.json saturated fatty acid anions http://purl.obolibrary.org/obo/CHEBI_58953 3_STAR UBERON:0003116 biolink:AnatomicalEntity pharyngeal arch 5 TAO:0001600|XAO:0000451|AAO:0010367|ZFA:0001608|FMA:293045|VHOG:0001204 hp.json gill arch 3|5th pharyngeal arch|fifth pharyngeal arch|third branchial arch|5th visceral arch|branchial arch 3|branchial arch 3|visceral arch 5|fifth visceral arch http://purl.obolibrary.org/obo/UBERON_0003116 UBERON:0003113 biolink:AnatomicalEntity dermatocranium Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. ZFA:0000863|TAO:0000863|XAO:0003169|Wikipedia:Skull_roof|AAO:0010154|VHOG:0001665 hp.json exocranium|dermal part of skull|skull exoskeleton|dermal skull roof|dermal skull roof|dermal bone cranium|dermal skull bones|roof of skull|roofing bones of the skull|roof of skull|roofing bones of the skull|skull roof|skull roof|dendrocranium|dermatocranial cover http://purl.obolibrary.org/obo/UBERON_0003113 UBERON:0003114 biolink:AnatomicalEntity pharyngeal arch 3 The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. VHOG:0000298|EHDAA:1080|EMAPA:16399|SCTID:308769006|TAO:0001598|FMA:293029|EHDAA2:0000069|AAO:0010365|ZFA:0001606|XAO:0000447 hp.json gill arch 1|3rd pharyngeal arch|3rd arch|first gill arch|third visceral arch|visceral arch 3|first branchial arch|3rd visceral arch|third pharyngeal arch|branchial arch 1 http://purl.obolibrary.org/obo/UBERON_0003114 vertebrate_core|pheno_slim CHEBI:58951 biolink:ChemicalSubstance short-chain fatty acid anion Any fatty acid anion obtained by removal of a proton from the carboxy group of a short-chain fatty acid (chain length of less than C6). hp.json short-chain fatty acid anions|a short-chain fatty acid http://purl.obolibrary.org/obo/CHEBI_58951 3_STAR UBERON:0003111 biolink:AnatomicalEntity sphenoid region Anatomical cluster that forms the floor and sidewalls of the middle part of the cranium. TAO:0000290|AAO:0010207|XAO:0003174|ZFA:0000290 hp.json http://purl.obolibrary.org/obo/UBERON_0003111 UBERON:0003112 biolink:AnatomicalEntity olfactory region Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ. NCIT:C98765|AAO:0010206|ZFA:0000351|EFO:0003525|TAO:0000351|XAO:0003172 hp.json ethmoid region http://purl.obolibrary.org/obo/UBERON_0003112 efo_slim UBERON:0017748 biolink:AnatomicalEntity lower primary incisor tooth A primary incisor tooth that is part of a lower jaw region. FMA:84215 hp.json primary lower incisor tooth|lower deciduous incisor tooth|deciduous lower incisor tooth http://purl.obolibrary.org/obo/UBERON_0017748 pheno_slim HP:0005837 biolink:PhenotypicFeature obsolete Joint dislocations in young adult hp.json http://purl.obolibrary.org/obo/HP_0005837 HGNC:6553 biolink:Gene LEP (human) A protein coding gene LEP in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6553 HP:0005833 biolink:PhenotypicFeature obsolete Joint swelling onset late infancy hp.json http://purl.obolibrary.org/obo/HP_0005833 HP:0005834 biolink:PhenotypicFeature obsolete Thumbs hypo/aplastic hp.json http://purl.obolibrary.org/obo/HP_0005834 HP:0005830 biolink:PhenotypicFeature Flexion contracture of toe One or more bent (flexed) toe joints that cannot be straightened actively or passively. UMLS:C1406835 hp.json Toe contractures|Contractures involving the toes|Contractures of the toes http://purl.obolibrary.org/obo/HP_0005830 HP:0005831 biolink:PhenotypicFeature Type B brachydactyly UMLS:C1862112|MSH:C566196 hp.json http://purl.obolibrary.org/obo/HP_0005831 HP:0005832 biolink:PhenotypicFeature Dysharmonic delayed bone age A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. UMLS:C1859444 hp.json http://purl.obolibrary.org/obo/HP_0005832 CHEBI:58945 biolink:ChemicalSubstance organophosphate oxoanion An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated. hp.json organophosphate oxoanions http://purl.obolibrary.org/obo/CHEBI_58945 3_STAR UBERON:0005769 biolink:AnatomicalEntity basement membrane of epithelium An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. Wikipedia:Basement_membrane|NCIT:C13191|UMLS:C0004799|SCTID:68989006|GAID:915|AAO:0010596|FMA:63872 hp.json basement membrane of connective tissue|membrana basalis|basement membrane|membrana basalis http://purl.obolibrary.org/obo/UBERON_0005769 UBERON:0003107 biolink:AnatomicalEntity Meckel's cartilage Meckel's cartilage is the bilaterally paired, rod-like, cartilaginous ventral component of the lower jar, or ventral mandibular arch. It is typically resorbed in adults. XAO:0003085|MA:0001580|FMA:295784|EMAPA:17635|EHDAA2:0001072|ZFA:0001205|TAO:0001205|EHDAA:7997|AAO:0000289|VHOG:0000249 hp.json primary mandinle|ventral mandibular cartilage|cartilago arcus pharyngei primi|Meckels cartilage http://purl.obolibrary.org/obo/UBERON_0003107 uberon_slim|vertebrate_core|pheno_slim UBERON:0003104 biolink:AnatomicalEntity mesenchyme Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. AEO:0000145|CALOHA:TS-0620|AAO:0010427|BTO:0001393|EV:0100007|Wikipedia:Mesenchyme|XAO:0003046|VHOG:0000170|NCIT:C13301|ZFA:0000393|UMLS:C0162415|EHDAA2:0003145|TAO:0000393 hp.json mesenchyma|portion of mesenchymal tissue|mesenchymal tissue|portion of mesenchyme tissue|mesenchyme tissue|mesenchyma http://purl.obolibrary.org/obo/UBERON_0003104 uberon_slim|vertebrate_core|pheno_slim UBERON:0003102 biolink:AnatomicalEntity surface structure Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. TAO:0000292|VSAO:0000001|galen:SurfaceRegion|XAO:0003028|Wikipedia:Surface_structure|EHDAA2_RETIRED:0003010|AAO:0010337|AEO_RETIRED:0000010|ZFA:0000292 hp.json surface structures|anatomical surface feature|surface region|surface feature http://purl.obolibrary.org/obo/UBERON_0003102 upper_level UBERON:0003103 biolink:AnatomicalEntity compound organ Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. BILA:0000024|AEO:0000024|CARO:0000024|HAO:0000024|ZFA:0000496|AAO:0010015|TAO:0000496|TGMA:0001837|VHOG:0001723|TADS:0000598|XAO:0003041|EHDAA2:0003024 hp.json organ http://purl.obolibrary.org/obo/UBERON_0003103 upper_level|organ_slim UBERON:0005764 biolink:AnatomicalEntity acellular membrane An acellular anatomical structure that is the bounding layer of a anatomical structure. FMA:63871 hp.json http://purl.obolibrary.org/obo/UBERON_0005764 UBERON:0003100 biolink:AnatomicalEntity female organism Gonochoristic organism that can produce female gametes. AAO:0010030|HAO:0000028|ZFA:0000303|XAO:0003005|TAO:0000303|SCTID:362608006|TGMA:0001839|BILA:0000028|FMA:67812|CARO:0000028|FBbt:00007011 hp.json female human body|female http://purl.obolibrary.org/obo/UBERON_0003100 vertebrate_core|pheno_slim UBERON:0003101 biolink:AnatomicalEntity male organism Gonochoristic organism that can produce male gametes. HAO:0000027|XAO:0003006|WBbt:0007850|ZFA:0000242|TGMA:0001838|FBbt:00007004|TAO:0000242|BILA:0000027|FMA:67811|AAO:0010033|CARO:0000027 hp.json male|male human body http://purl.obolibrary.org/obo/UBERON_0003101 vertebrate_core|pheno_slim GO:0043217 biolink:BiologicalProcess myelin maintenance The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath. hp.json http://purl.obolibrary.org/obo/GO_0043217 GO:0070831 biolink:BiologicalProcess basement membrane assembly The aggregation, arrangement and bonding together of a set of components to form a basement membrane, a part of the extracellular region that consists of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. hp.json http://purl.obolibrary.org/obo/GO_0070831 GO:0021895 biolink:BiologicalProcess cerebral cortex neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron residing in the cerebral cortex. hp.json http://purl.obolibrary.org/obo/GO_0021895 GO:0031214 biolink:BiologicalProcess biomineral tissue development Formation of hard tissues that consist mainly of inorganic compounds, and also contain a small amounts of organic matrices that are believed to play important roles in their formation. Wikipedia:Biomineralization hp.json http://purl.obolibrary.org/obo/GO_0031214 GO:0006281 biolink:BiologicalProcess DNA repair The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. Wikipedia:DNA_repair hp.json http://purl.obolibrary.org/obo/GO_0006281 goslim_drosophila|goslim_generic|goslim_yeast|prokaryote_subset|goslim_pombe|goslim_pir GO:0070828 biolink:BiologicalProcess heterochromatin organization Any process that results in the specification, formation or maintenance of the physical structure of eukaryotic heterochromatin, a compact and highly condensed form of chromatin. hp.json heterochromatin organisation http://purl.obolibrary.org/obo/GO_0070828 GO:0006282 biolink:BiologicalProcess regulation of DNA repair Any process that modulates the frequency, rate or extent of DNA repair. hp.json http://purl.obolibrary.org/obo/GO_0006282 goslim_metagenomics GO:0043227 biolink:CellularComponent membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. NIF_Subcellular:sao414196390 hp.json membrane-enclosed organelle http://purl.obolibrary.org/obo/GO_0043227 GO:0043226 biolink:CellularComponent organelle Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. Wikipedia:Organelle|NIF_Subcellular:sao1539965131 hp.json http://purl.obolibrary.org/obo/GO_0043226 goslim_chembl|goslim_generic|prokaryote_subset|goslim_pir GO:0043229 biolink:CellularComponent intracellular organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. hp.json http://purl.obolibrary.org/obo/GO_0043229 goslim_pir GO:0043228 biolink:CellularComponent non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. NIF_Subcellular:sao1456184038 hp.json non-membrane-enclosed organelle|biological condensate http://purl.obolibrary.org/obo/GO_0043228 goslim_mouse GO:0021884 biolink:BiologicalProcess forebrain neuron development The process whose specific outcome is the progression of a neuron that resides in the forebrain, from its initial commitment to its fate, to the fully functional differentiated cell. hp.json http://purl.obolibrary.org/obo/GO_0021884 GO:0021885 biolink:BiologicalProcess forebrain cell migration The orderly movement of a cell from one site to another at least one of which is located in the forebrain. hp.json http://purl.obolibrary.org/obo/GO_0021885 GO:0043233 biolink:CellularComponent organelle lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. hp.json http://purl.obolibrary.org/obo/GO_0043233 goslim_mouse PR:000007597 biolink:Protein protein c-Fos A protein that is a translation product of the human FOS gene or a 1:1 ortholog thereof. hp.json cellular oncogene fos|G0/G1 switch regulatory protein 7|FOS|transcription factor AP-1 subunit c-Fos|proto-oncogene protein c-fos|G0S7 http://purl.obolibrary.org/obo/PR_000007597 GO:0043235 biolink:CellularComponent receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. hp.json http://purl.obolibrary.org/obo/GO_0043235 goslim_pir GO:0043230 biolink:CellularComponent extracellular organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. hp.json http://purl.obolibrary.org/obo/GO_0043230 goslim_pir GO:0043232 biolink:CellularComponent intracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. hp.json intracellular non-membrane-enclosed organelle http://purl.obolibrary.org/obo/GO_0043232 goslim_pir GO:0043231 biolink:CellularComponent intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. hp.json intracellular membrane-enclosed organelle http://purl.obolibrary.org/obo/GO_0043231 goslim_pir GO:0070859 biolink:NamedThing positive regulation of bile acid biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0070859 GO:0070857 biolink:NamedThing regulation of bile acid biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0070857 GO:0070858 biolink:NamedThing negative regulation of bile acid biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0070858 GO:0070851 biolink:MolecularActivity growth factor receptor binding Binding to a growth factor receptor. hp.json http://purl.obolibrary.org/obo/GO_0070851 GO:0021872 biolink:BiologicalProcess forebrain generation of neurons The process in which nerve cells are generated in the forebrain. This includes the production of neuroblasts from and their differentiation into neurons. hp.json generation of neurons in forebrain http://purl.obolibrary.org/obo/GO_0021872 GO:0006259 biolink:BiologicalProcess DNA metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. hp.json cellular DNA metabolism|DNA metabolism http://purl.obolibrary.org/obo/GO_0006259 goslim_agr|goslim_candida|goslim_plant|goslim_pir|goslim_flybase_ribbon|goslim_chembl|goslim_metagenomics GO:0043244 biolink:BiologicalProcess regulation of protein-containing complex disassembly Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. hp.json regulation of protein complex disassembly http://purl.obolibrary.org/obo/GO_0043244 GO:0043243 biolink:BiologicalProcess positive regulation of protein-containing complex disassembly Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. hp.json up regulation of protein complex disassembly|activation of protein complex disassembly|stimulation of protein complex disassembly|positive regulation of protein complex disassembly|upregulation of protein complex disassembly|up-regulation of protein complex disassembly http://purl.obolibrary.org/obo/GO_0043243 GO:0043242 biolink:BiologicalProcess negative regulation of protein-containing complex disassembly Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. hp.json down-regulation of protein complex disassembly|down regulation of protein complex disassembly|negative regulation of protein complex disassembly|downregulation of protein complex disassembly|inhibition of protein complex disassembly http://purl.obolibrary.org/obo/GO_0043242 GO:0043249 biolink:BiologicalProcess erythrocyte maturation A developmental process, independent of morphogenetic (shape) change, that is required for an erythrocyte to attain its fully functional state. hp.json red blood cell maturation|RBC maturation http://purl.obolibrary.org/obo/GO_0043249 GO:0021879 biolink:BiologicalProcess forebrain neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron that will reside in the forebrain. hp.json http://purl.obolibrary.org/obo/GO_0021879 GO:0021863 biolink:BiologicalProcess forebrain neuroblast differentiation The process in which neuroepithelial cells in the neural tube acquire specialized structural and/or functional features of basal progenitor cells, neuroblasts that lose their contacts with the ventricular surface. Differentiation includes the processes involved in commitment of a cell to a specific fate. hp.json non-surface dividing progenitor cell differentiation|intermediate progenitor cell differentiation|abventricular progenitor cell differentiation http://purl.obolibrary.org/obo/GO_0021863 GO:0043255 biolink:BiologicalProcess regulation of carbohydrate biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates. hp.json regulation of carbohydrate anabolism|regulation of carbohydrate synthesis|regulation of carbohydrate biosynthesis|regulation of carbohydrate formation http://purl.obolibrary.org/obo/GO_0043255 GO:0043254 biolink:BiologicalProcess regulation of protein-containing complex assembly Any process that modulates the frequency, rate or extent of protein complex assembly. hp.json regulation of protein complex assembly http://purl.obolibrary.org/obo/GO_0043254 GO:0070875 biolink:NamedThing positive regulation of glycogen metabolic process hp.json http://purl.obolibrary.org/obo/GO_0070875 GO:0070873 biolink:NamedThing regulation of glycogen metabolic process hp.json http://purl.obolibrary.org/obo/GO_0070873 GO:0070874 biolink:NamedThing negative regulation of glycogen metabolic process hp.json http://purl.obolibrary.org/obo/GO_0070874 UBERON:0005814 biolink:AnatomicalEntity arch of atlas A vertebral arch that is part of the first cervical vertebra. FMA:23975 hp.json atlas arch http://purl.obolibrary.org/obo/UBERON_0005814 GO:0043269 biolink:BiologicalProcess regulation of ion transport Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0043269 GO:0043264 biolink:CellularComponent extracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring outside the cell. hp.json extracellular non-membrane-enclosed organelle http://purl.obolibrary.org/obo/GO_0043264 GO:0043270 biolink:BiologicalProcess positive regulation of ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json up regulation of ion transport|activation of ion transport|stimulation of ion transport|upregulation of ion transport|up-regulation of ion transport http://purl.obolibrary.org/obo/GO_0043270 UBERON:0005809 biolink:AnatomicalEntity cortex of manus bone The outer or sperficial part of a bone of the manus. hp.json http://purl.obolibrary.org/obo/UBERON_0005809 UBERON:0005808 biolink:AnatomicalEntity bone tissue of long bone A bone tissue that is part of a long bone. FMA:83117 hp.json osseous tissue of long bone http://purl.obolibrary.org/obo/UBERON_0005808 GO:0043271 biolink:BiologicalProcess negative regulation of ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json down-regulation of ion transport|down regulation of ion transport|downregulation of ion transport|inhibition of ion transport http://purl.obolibrary.org/obo/GO_0043271 UBERON:0005806 biolink:AnatomicalEntity portal system In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. UMLS:C0226727|FMA:45628|NCIT:C33344|MESH:D011168 hp.json portal venous system http://purl.obolibrary.org/obo/UBERON_0005806 UBERON:0005805 biolink:AnatomicalEntity dorsal aorta The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. BTO:0004673|VHOG:0000264|ZFA:0000014|EHDAA:402|AAO:0011029|Wikipedia:Dorsal_aorta|TAO:0000014|SCTID:338637006|XAO:0000051|EMAPA:18606 hp.json aortae dorsales|dorsal aortae|dorsal aortæ|dorsal aortæ|dorsal aortae|DA|dorsal aortic root|dorsal aorta root|aortae dorsales|aorta dorsalis http://purl.obolibrary.org/obo/UBERON_0005805 vertebrate_core GO:0006206 biolink:BiologicalProcess pyrimidine nucleobase metabolic process The chemical reactions and pathways involving pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. hp.json pyrimidine metabolic process|pyrimidine base metabolism|pyrimidine metabolism|pyrimidine base metabolic process http://purl.obolibrary.org/obo/GO_0006206 GO:0043279 biolink:BiologicalProcess response to alkaloid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an alkaloid stimulus. Alkaloids are a large group of nitrogenous substances found in naturally in plants, many of which have extracts that are pharmacologically active. hp.json http://purl.obolibrary.org/obo/GO_0043279 UBERON:0005813 biolink:AnatomicalEntity tubercle A round nodule, small eminence, or warty outgrowth on an anatomical surface, such as bones, skin, or within the lungs (in the case of tuberculosis). They are also found on the leading edge of Humpback Whale's flippers, improving fluid flow over the flipper's surface[WP]. BTO:0002173|FMA:75429|AAO:0010605 hp.json tuber http://purl.obolibrary.org/obo/UBERON_0005813 upper_level|grouping_class GO:0021846 biolink:BiologicalProcess cell proliferation in forebrain The creation of greater cell numbers in the forebrain due to cell division of progenitor cells. hp.json http://purl.obolibrary.org/obo/GO_0021846 GO:0070887 biolink:BiologicalProcess cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. hp.json http://purl.obolibrary.org/obo/GO_0070887 gocheck_do_not_manually_annotate UBERON:0005800 biolink:AnatomicalEntity section of aorta Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. SCTID:119203005|FMA:13087|NCIT:C34027|UMLS:C0506947 hp.json aortic section|aortic segment|portion of aorta|segment of aorta http://purl.obolibrary.org/obo/UBERON_0005800 CHEBI:22918 biolink:ChemicalSubstance branched-chain amino acid Any amino acid in which the parent hydrocarbon chain has one or more alkyl substituents hp.json branched chain amino acids http://purl.obolibrary.org/obo/CHEBI_22918 3_STAR GO:0045818 biolink:NamedThing negative regulation of glycogen catabolic process hp.json http://purl.obolibrary.org/obo/GO_0045818 GO:0045815 biolink:BiologicalProcess epigenetic maintenance of chromatin in transcription-competent conformation An epigenetic process that capacitates gene expression by remodelling of chromatin by either modifying the chromatin fiber, the nucleosomal histones, or the DNA. hp.json maintenance of chromatin in transcription-competent conformation|activation of gene expression, epigenetic|euchromatin assembly|chromatin-mediated maintenance of transcription|up-regulation of gene expression, epigenetic|euchromatin organization|stimulation of gene expression, epigenetic|up regulation of gene expression, epigenetic|positive regulation of gene expression, epigenetic|upregulation of gene expression, epigenetic|long-term maintenance of gene activation|euchromatin organisation http://purl.obolibrary.org/obo/GO_0045815 GO:0045814 biolink:BiologicalProcess negative regulation of gene expression, epigenetic An epigenetic process that stops, prevents or reduces the rate of gene expression by remodelling of chromatin by either modifying the chromatin fiber, the nucleosomal histones, or the DNA. hp.json gene silencing|downregulation of gene expression, epigenetic|inhibition of gene expression, epigenetic|down-regulation of gene expression, epigenetic|down regulation of gene expression, epigenetic http://purl.obolibrary.org/obo/GO_0045814 GO:0045819 biolink:NamedThing positive regulation of glycogen catabolic process hp.json http://purl.obolibrary.org/obo/GO_0045819 PR:Q06278 biolink:Protein aldehyde oxidase (human) An aldehyde oxidase that is encoded in the genome of human. Reactome:R-HSA-3204326|UniProtKB:Q06278 hp.json AO|hAOX1|AOX1|aldehyde oxidase 1 (human)|azaheterocycle hydroxylase (human) http://purl.obolibrary.org/obo/PR_Q06278 GO:0045820 biolink:BiologicalProcess negative regulation of glycolytic process Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis. hp.json downregulation of glycolysis|down regulation of glycolysis|inhibition of glycolysis|down-regulation of glycolysis http://purl.obolibrary.org/obo/GO_0045820 GO:0045821 biolink:BiologicalProcess positive regulation of glycolytic process Any process that activates or increases the frequency, rate or extent of glycolysis. hp.json up regulation of glycolysis|stimulation of glycolysis|up-regulation of glycolysis|activation of glycolysis|upregulation of glycolysis http://purl.obolibrary.org/obo/GO_0045821 GO:0045828 biolink:BiologicalProcess positive regulation of isoprenoid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. hp.json upregulation of isoprenoid metabolic process|up regulation of isoprenoid metabolic process|positive regulation of isoprenoid metabolism|stimulation of isoprenoid metabolic process|up-regulation of isoprenoid metabolic process|activation of isoprenoid metabolic process http://purl.obolibrary.org/obo/GO_0045828 GO:0031270 biolink:BiologicalProcess pseudopodium retraction The myosin-based contraction and retraction of a pseudopodium. hp.json http://purl.obolibrary.org/obo/GO_0031270 GO:0045827 biolink:BiologicalProcess negative regulation of isoprenoid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. hp.json down regulation of isoprenoid metabolic process|inhibition of isoprenoid metabolic process|down-regulation of isoprenoid metabolic process|downregulation of isoprenoid metabolic process|negative regulation of isoprenoid metabolism http://purl.obolibrary.org/obo/GO_0045827 GO:0045824 biolink:BiologicalProcess negative regulation of innate immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response. hp.json downregulation of innate immune response|down regulation of innate immune response|inhibition of innate immune response|down-regulation of innate immune response http://purl.obolibrary.org/obo/GO_0045824 GO:0045822 biolink:BiologicalProcess negative regulation of heart contraction Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction. hp.json down regulation of heart contraction|inhibition of heart contraction|downregulation of heart contraction|down-regulation of heart contraction|negative regulation of cardiac contraction http://purl.obolibrary.org/obo/GO_0045822 GO:0045823 biolink:BiologicalProcess positive regulation of heart contraction Any process that activates or increases the frequency, rate or extent of heart contraction. hp.json upregulation of heart contraction|up-regulation of heart contraction|positive regulation of cardiac contraction|up regulation of heart contraction|activation of heart contraction|stimulation of heart contraction http://purl.obolibrary.org/obo/GO_0045823 GO:0031274 biolink:BiologicalProcess positive regulation of pseudopodium assembly Any process that activates or increases the frequency, rate or extent of the assembly of pseudopodia. hp.json up-regulation of pseudopodium formation|positive regulation of pseudopodium formation|upregulation of pseudopodium formation|stimulation of pseudopodium formation|activation of pseudopodium formation|up regulation of pseudopodium formation http://purl.obolibrary.org/obo/GO_0031274 GO:0031272 biolink:BiologicalProcess regulation of pseudopodium assembly Any process that modulates the frequency, rate or extent of the assembly of pseudopodia. hp.json regulation of pseudopodium formation http://purl.obolibrary.org/obo/GO_0031272 GO:0031273 biolink:BiologicalProcess negative regulation of pseudopodium assembly Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly of pseudopodia. hp.json downregulation of pseudopodium formation|inhibition of pseudopodium formation|down regulation of pseudopodium formation|negative regulation of pseudopodium formation|down-regulation of pseudopodium formation http://purl.obolibrary.org/obo/GO_0031273 HP:0040333 biolink:PhenotypicFeature Confluent hypointensity of cerebral white matter on MRI hp.json http://purl.obolibrary.org/obo/HP_0040333 HP:0040334 biolink:PhenotypicFeature Purulent rhinitis Chronic rhinitis accompanied by pus formation. hp.json http://purl.obolibrary.org/obo/HP_0040334 GO:0031269 biolink:BiologicalProcess pseudopodium assembly The assembly of a pseudopodium by rearrangement of the actin cytoskeleton and overlying membrane. hp.json pseudopodium formation|pseudopodium extension http://purl.obolibrary.org/obo/GO_0031269 GO:0045839 biolink:BiologicalProcess negative regulation of mitotic nuclear division Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother. hp.json negative regulation of mitosis|down-regulation of mitosis|down regulation of mitosis|inhibition of mitosis|downregulation of mitosis http://purl.obolibrary.org/obo/GO_0045839 GO:0045835 biolink:BiologicalProcess negative regulation of meiotic nuclear division Any process that stops, prevents, or reduces the frequency, rate or extent of meiosis. hp.json inhibition of meiosis|downregulation of meiosis|negative regulation of meiosis|down-regulation of meiosis|down regulation of meiosis http://purl.obolibrary.org/obo/GO_0045835 GO:0045836 biolink:BiologicalProcess positive regulation of meiotic nuclear division Any process that activates or increases the frequency, rate or extent of meiosis. hp.json up-regulation of meiosis|up regulation of meiosis|activation of meiosis|positive regulation of meiosis|stimulation of meiosis|upregulation of meiosis http://purl.obolibrary.org/obo/GO_0045836 GO:0045833 biolink:BiologicalProcess negative regulation of lipid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipids. hp.json downregulation of lipid metabolic process|inhibition of lipid metabolic process|negative regulation of lipid metabolism|down-regulation of lipid metabolic process|down regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0045833 GO:0045834 biolink:BiologicalProcess positive regulation of lipid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. hp.json up-regulation of lipid metabolic process|up regulation of lipid metabolic process|activation of lipid metabolic process|positive regulation of lipid metabolism|stimulation of lipid metabolic process|upregulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0045834 GO:0031268 biolink:BiologicalProcess pseudopodium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. hp.json pseudopodium organisation|pseudopodium organization and biogenesis http://purl.obolibrary.org/obo/GO_0031268 HP:0040331 biolink:PhenotypicFeature Focal hypointensity of cerebral white matter on MRI hp.json http://purl.obolibrary.org/obo/HP_0040331 HP:0040332 biolink:PhenotypicFeature Multifocal hypointensity of cerebral white matter on MRI hp.json http://purl.obolibrary.org/obo/HP_0040332 HP:0040330 biolink:PhenotypicFeature Confluent hyperintensity of cerebral white matter on MRI Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together. hp.json http://purl.obolibrary.org/obo/HP_0040330 UBERON:0039175 biolink:AnatomicalEntity subarachnoid space of brain FMA:322073 hp.json http://purl.obolibrary.org/obo/UBERON_0039175 UBERON:0039176 biolink:AnatomicalEntity subarachnoid space of spinal cord FMA:322074 hp.json http://purl.obolibrary.org/obo/UBERON_0039176 GO:0045843 biolink:BiologicalProcess negative regulation of striated muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development. hp.json down-regulation of striated muscle development|down regulation of striated muscle development|downregulation of striated muscle development|inhibition of striated muscle development http://purl.obolibrary.org/obo/GO_0045843 GO:0045840 biolink:BiologicalProcess positive regulation of mitotic nuclear division Any process that activates or increases the frequency, rate or extent of mitosis. hp.json upregulation of mitosis|mitogenic activity|up-regulation of mitosis|up regulation of mitosis|activation of mitosis|positive regulation of mitosis|stimulation of mitosis http://purl.obolibrary.org/obo/GO_0045840 GO:0045844 biolink:BiologicalProcess positive regulation of striated muscle tissue development Any process that activates or increases the frequency, rate or extent of striated muscle development. hp.json up regulation of striated muscle development|activation of striated muscle development|stimulation of striated muscle development|upregulation of striated muscle development|up-regulation of striated muscle development http://purl.obolibrary.org/obo/GO_0045844 GO:0031256 biolink:CellularComponent leading edge membrane The portion of the plasma membrane surrounding the leading edge of a motile cell. hp.json http://purl.obolibrary.org/obo/GO_0031256 GO:0031252 biolink:CellularComponent cell leading edge The area of a motile cell closest to the direction of movement. hp.json front of cell|leading edge of cell http://purl.obolibrary.org/obo/GO_0031252 goslim_pir GO:0031253 biolink:CellularComponent cell projection membrane The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. hp.json membrane extension|membrane projection http://purl.obolibrary.org/obo/GO_0031253 MPATH:387 biolink:NamedThing odontoma Hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma). Cf ameloblastic fibro-odontoma. (M-9280/0). hp.json http://purl.obolibrary.org/obo/MPATH_387 GO:0043200 biolink:BiologicalProcess response to amino acid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. hp.json response to amino acid stimulus http://purl.obolibrary.org/obo/GO_0043200 GO:0043209 biolink:CellularComponent myelin sheath An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system. FMA:62983|NIF_Subcellular:sao593830697|Wikipedia:Myelin hp.json astrocyte sheath|Schwann cell myelin sheath|oligodendrocyte myelin sheath http://purl.obolibrary.org/obo/GO_0043209 GO:0043207 biolink:BiologicalProcess response to external biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. hp.json http://purl.obolibrary.org/obo/GO_0043207 MPATH:379 biolink:NamedThing odontogenic tumor Neoplasm arising from the tissues of the odontogenic apparatus. These tumors are derived from ectodermal tissue (epithelial tumors) or from mesodermal tissue (connective tissue tumors) or are composed of both components (mixed or composite odontogenic tumors) . hp.json http://purl.obolibrary.org/obo/MPATH_379 CHEBI:22860 biolink:ChemicalSubstance amino-acid betaine Any amino acid-derived zwitterion - such as glycine betaine (N,N,N-trimethylammonioacetate) - in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms. hp.json amino-acid betaines|amino acid betaines|betaines http://purl.obolibrary.org/obo/CHEBI_22860 3_STAR HP:0030970 biolink:PhenotypicFeature Abnormal vena cava physiology An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. hp.json http://purl.obolibrary.org/obo/HP_0030970 HP:0030971 biolink:PhenotypicFeature obsolete Abnormal vena cava morphology hp.json http://purl.obolibrary.org/obo/HP_0030971 UBERON:0003296 biolink:AnatomicalEntity gland of diencephalon Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. EHDAA:4475|EHDAA2:0000395|VHOG:0000653|EMAPA:16897 hp.json diencephalon gland|interbrain gland http://purl.obolibrary.org/obo/UBERON_0003296 HP:0030976 biolink:PhenotypicFeature Abnormal factor VIII activity A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. hp.json http://purl.obolibrary.org/obo/HP_0030976 UBERON:0003297 biolink:AnatomicalEntity gland of integumental system A gland that is part of a integumental system [Automatically generated definition]. EHDAA:6522|VHOG:0000654|EMAPA:17758|EHDAA2:0000837|MA:0000144 hp.json integumental system gland|integumental system gland|integumental gland|integumental gland|integumentary gland|integumentary gland http://purl.obolibrary.org/obo/UBERON_0003297 HP:0003345 biolink:PhenotypicFeature Elevated urinary norepinephrine An increased concentration of noradrenaline in the urine. UMLS:C4025626 hp.json http://purl.obolibrary.org/obo/HP_0003345 HP:0030977 biolink:PhenotypicFeature Increased factor VIII activity Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. hp.json Elevated factor VIII level http://purl.obolibrary.org/obo/HP_0030977 HP:0003344 biolink:PhenotypicFeature 3-Methylglutaric aciduria An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine. UMLS:C3151952 hp.json 3-methylglutaricaciduria http://purl.obolibrary.org/obo/HP_0003344 UBERON:0003294 biolink:AnatomicalEntity gland of foregut A gland that is part of a foregut [Automatically generated definition]. EMAPA:16557|VHOG:0000650|EHDAA2:0000567|EHDAA:950 hp.json foregut gland http://purl.obolibrary.org/obo/UBERON_0003294 HP:0030978 biolink:PhenotypicFeature Decreased CSF/serum albumin ratio A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. hp.json http://purl.obolibrary.org/obo/HP_0030978 UBERON:0003295 biolink:AnatomicalEntity pharyngeal gland Racemose mucous glands beneath the mucous membrane of the pharynx. EHDAA2:0001461|EHDAA:2967|FMA:55075|BTO:0004849 hp.json pharynx gland|glandulae pharyngeae http://purl.obolibrary.org/obo/UBERON_0003295 organ_slim HP:0030979 biolink:PhenotypicFeature Dilatation of large choroidal vessels Enlargement of the large blood vessels in the choroid. hp.json Dilated choroidal vessels http://purl.obolibrary.org/obo/HP_0030979 HP:0003343 biolink:PhenotypicFeature Reduced glutathione synthetase level Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline. SNOMEDCT_US:124706000|SNOMEDCT_US:39112005|UMLS:C0398746|MSH:C536835|SNOMEDCT_US:234589002 hp.json Glutathione synthetase deficiency http://purl.obolibrary.org/obo/HP_0003343 UBERON:0003292 biolink:AnatomicalEntity meninx of spinal cord A meninx that is part of a spinal cord [Automatically generated definition]. MA:0001130|EMAPA:17804|NCIT:C12350|VHOG:0000443|SCTID:181097002|CALOHA:TS-2148|EHDAA:2865|UMLS:C0037938|EHDAA2:0001895 hp.json menines of spinal cord|spinal meninges|spinal meninx|meninges of spinal cord|spinal cord meninx|spinal cord meninges http://purl.obolibrary.org/obo/UBERON_0003292 pheno_slim HP:0030972 biolink:PhenotypicFeature Abnormal systemic blood pressure A chronic deviation from normal pressure in the systemic arterial system. hp.json Abnormal systemic BP http://purl.obolibrary.org/obo/HP_0030972 HP:0003349 biolink:PhenotypicFeature Low cholesterol esterification rate A reduction in the rate of cholesterol esterification. UMLS:C1843371 hp.json http://purl.obolibrary.org/obo/HP_0003349 HP:0030973 biolink:PhenotypicFeature Postexertional symptom exacerbation Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse. hp.json Exercise-induced malaise|Postexertional malaise http://purl.obolibrary.org/obo/HP_0030973 UBERON:0003290 biolink:AnatomicalEntity meninx of diencephalon A meninx that is part of a diencephalon [Automatically generated definition]. MA:0000826|EMAPA:17764|EHDAA:5458|EHDAA2:0000399|VHOG:0000009 hp.json meninges of mature diencephalon|meninges of diencephalon|meninx of mature diencephalon|mature diencephalon meninx|interbrain meninx|meninx of interbrain|mature diencephalon meninges|interbrain meninges|between brain meninx|meninges of interbrain|between brain meninges|diencephalon meninx|meninges of between brain|diencephalon meninges|meninx of between brain http://purl.obolibrary.org/obo/UBERON_0003290 HP:0003348 biolink:PhenotypicFeature Hyperalaninemia An increased concentration of alanine in the blood. UMLS:C1839424|UMLS:C1849489|MSH:C562684|SNOMEDCT_US:2359002|UMLS:C0268630 hp.json Increased blood alanine|Increased serum alanine http://purl.obolibrary.org/obo/HP_0003348 HP:0030974 biolink:PhenotypicFeature Cryptozoospermia A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). hp.json Cryptospermia http://purl.obolibrary.org/obo/HP_0030974 UBERON:0003291 biolink:AnatomicalEntity meninx of hindbrain A meninx that is part of a hindbrain [Automatically generated definition]. EHDAA2:0000770|MA:0000987|VHOG:0000011|EMAPA:17783|EHDAA:3688 hp.json rhomencephalon meninges|hindbrain meninx|meninges of hindbrain|hindbrain meninges http://purl.obolibrary.org/obo/UBERON_0003291 HP:0003347 biolink:PhenotypicFeature Impaired lymphocyte transformation with phytohemagglutinin Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes. UMLS:C4025625 hp.json http://purl.obolibrary.org/obo/HP_0003347 HP:0030975 biolink:PhenotypicFeature Pontine tegmental cap An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle. hp.json Vaulted pontine tegmentum http://purl.obolibrary.org/obo/HP_0030975 CHEBI:22868 biolink:ChemicalSubstance bile salt hp.json http://purl.obolibrary.org/obo/CHEBI_22868 HP:0003341 biolink:PhenotypicFeature Lamina lucida cleavage The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. UMLS:C4021730 hp.json Junctional split|Blistering with junctional split|Subepidermal blistering with cleavage in the lamina lucida http://purl.obolibrary.org/obo/HP_0003341 HP:0003340 biolink:PhenotypicFeature obsolete Abnormal dermatological laboratory findings hp.json http://purl.obolibrary.org/obo/HP_0003340 UBERON:0003299 biolink:AnatomicalEntity roof plate of midbrain The mesencephalic roof plate, including the caudal and rostral part of the midbrain roof. DHBA:12320|EHDAA2:0001177|VHOG:0000772|EHDAA:3712|ZFA:0000355|RETIRED_EHDAA2:0001111|EMAPA:16981|TAO:0000355 hp.json roofplate of midbrain|roofplate midbrain|midbrain roof|roof plate midbrain region|roof plate midbrain|midbrain roofplate|midbrain roof plate|roof plate mesencephalon http://purl.obolibrary.org/obo/UBERON_0003299 pheno_slim|vertebrate_core HP:0040302 biolink:PhenotypicFeature Hyperglycerolemia Increased concentration of glycerol in the blood. hp.json Pseudohypertriglyceridemia http://purl.obolibrary.org/obo/HP_0040302 HP:0040303 biolink:PhenotypicFeature Decreased serum iron hp.json Low serum iron http://purl.obolibrary.org/obo/HP_0040303 HP:0040300 biolink:PhenotypicFeature Abnormal circulating free fatty acid concentration Any deviation from the normal concentration of a free fatty acid in the blood circulation. hp.json Abnormal circulating free fatty acid level http://purl.obolibrary.org/obo/HP_0040300 HP:0040301 biolink:PhenotypicFeature Increased urinary glycerol An increased concentration of glycerol in the urine. hp.json http://purl.obolibrary.org/obo/HP_0040301 HP:0040306 biolink:PhenotypicFeature Decreased male libido Reduced desire for sexual activity on the part of a male. hp.json http://purl.obolibrary.org/obo/HP_0040306 HP:0040307 biolink:PhenotypicFeature Male sexual dysfunction A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity hp.json http://purl.obolibrary.org/obo/HP_0040307 HP:0040304 biolink:PhenotypicFeature Duplication of the sella turcica hp.json Duplicate sella turcica|Duplicated sella turcica http://purl.obolibrary.org/obo/HP_0040304 HP:0040305 biolink:PhenotypicFeature Increased male libido Increased desire for sexual activity on the part of a male. hp.json http://purl.obolibrary.org/obo/HP_0040305 HP:0030980 biolink:PhenotypicFeature Reduced brain glutamine level by MRS An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). hp.json http://purl.obolibrary.org/obo/HP_0030980 HP:0030981 biolink:PhenotypicFeature Abnormal CSF/serum albumin ratio A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF. hp.json http://purl.obolibrary.org/obo/HP_0030981 HP:0040308 biolink:PhenotypicFeature Male anorgasmia Inability of a male to reach orgasm. hp.json http://purl.obolibrary.org/obo/HP_0040308 HP:0040309 biolink:PhenotypicFeature Increased size of the mandible hp.json Large jaw http://purl.obolibrary.org/obo/HP_0040309 HP:0030987 biolink:PhenotypicFeature Suppurative cholangitis Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess). hp.json http://purl.obolibrary.org/obo/HP_0030987 HP:0003357 biolink:PhenotypicFeature Thymic hormone decreased A reduction in the level of thymic horomone. UMLS:C1857652 hp.json Decreased thymic hormone http://purl.obolibrary.org/obo/HP_0003357 HP:0030988 biolink:PhenotypicFeature Granulomatous cholangitis Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. hp.json http://purl.obolibrary.org/obo/HP_0030988 HP:0003355 biolink:PhenotypicFeature Aminoaciduria An increased concentration of an amino acid in the urine. SNOMEDCT_US:35912001|UMLS:C0238621|UMLS:C4020843 hp.json Hyperaminoaciduria|Increased levels of animo acids in urine|High urine amino acid levels|Abnormal urinary amino-acid findings http://purl.obolibrary.org/obo/HP_0003355 HP:0030989 biolink:PhenotypicFeature Lymphoid cholangitis Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. hp.json http://purl.obolibrary.org/obo/HP_0030989 UBERON:0003283 biolink:AnatomicalEntity mesentery of oesophagus A mesentery that is part of a esophagus [Automatically generated definition]. VHOG:0000415|EHDAA2:0001288|EMAPA:16836|MA:0001569|EHDAA:2943 hp.json gullet mesentery|esophagus mesentery|mesentery of esophagus|meso-esophagus|oesophagus mesentery|mesentery of gullet http://purl.obolibrary.org/obo/UBERON_0003283 UBERON:0003284 biolink:AnatomicalEntity mesentery of midgut A mesentery that is part of a midgut [Automatically generated definition]. EHDAA2:0001202|EMAPA:17197|VHOG:0000413|EHDAA:3031|EMAPA:16721|EMAPA:17039 hp.json midgut mesentery http://purl.obolibrary.org/obo/UBERON_0003284 HP:0003354 biolink:PhenotypicFeature Hyperthreoninemia An increased concentration of threonine in the blood. UMLS:C1848861 hp.json High blood threonine levels|Elevated circulating threonine http://purl.obolibrary.org/obo/HP_0003354 UBERON:0003281 biolink:AnatomicalEntity mesentery of stomach The portion of the primitive mesentery that encloses the stomach; from its dorsal sheet, the greater omentum develops, and from its ventral sheet, the lesser omentum. VHOG:0000358|MA:0001617|EHDAA:2999|EHDAA2:0001922|EMAPA:17024 hp.json ventriculus mesentery|mesentery of ventriculus|mesogastrium|mesogaster|mesogastium|stomach mesentery http://purl.obolibrary.org/obo/UBERON_0003281 pheno_slim HP:0030983 biolink:PhenotypicFeature Ovarian thecoma A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types. hp.json http://purl.obolibrary.org/obo/HP_0030983 HP:0030984 biolink:PhenotypicFeature Abnormal serum bile acid concentration A deviation from the normal concentration of serum bile acid concentration. hp.json http://purl.obolibrary.org/obo/HP_0030984 UBERON:0003282 biolink:AnatomicalEntity mesentery of heart A mesentery that surrounds the heart. VHOG:0000353|EMAPA:16212|EHDAA:432|RETIRED_EHDAA2:0000739 hp.json cardiac mesentery|heart mesentery|mesocardium http://purl.obolibrary.org/obo/UBERON_0003282 HP:0030985 biolink:PhenotypicFeature Decreased serum bile acid concentration A reduction in the concentration of bile acid in the blood. hp.json http://purl.obolibrary.org/obo/HP_0030985 HP:0003359 biolink:PhenotypicFeature Decreased urinary sulfate Decreased concentration of sulfate in the urine. UMLS:C1848958 hp.json Decreased urinary sulphate|Decreased urinary sulfate http://purl.obolibrary.org/obo/HP_0003359 HP:0030986 biolink:PhenotypicFeature Biliary epithelial hyperplasia Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. hp.json http://purl.obolibrary.org/obo/HP_0030986 HP:0003358 biolink:PhenotypicFeature Elevated intracellular cystine An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. UMLS:C4025623 hp.json http://purl.obolibrary.org/obo/HP_0003358 HP:0003353 biolink:PhenotypicFeature Propionyl-CoA carboxylase deficiency An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase. SNOMEDCT_US:69080001|UMLS:C0268579|MSH:D056693|SNOMEDCT_US:124718009 hp.json http://purl.obolibrary.org/obo/HP_0003353 UBERON:0003289 biolink:AnatomicalEntity meninx of telencephalon A meninx that is part of a telencephalon [Automatically generated definition]. EHDAA:5476|EHDAA2:0001990|MA:0000979|VHOG:0000010|EMAPA:17774 hp.json meninges of telencephalon|telencephalon meninx|telencephalon meninges http://purl.obolibrary.org/obo/UBERON_0003289 HP:0003352 biolink:PhenotypicFeature Endopolyploidy on chromosome studies of bone marrow An increase in the number of chromosome sets per cell in bone marrow cells. UMLS:C4025624 hp.json http://purl.obolibrary.org/obo/HP_0003352 HP:0003351 biolink:PhenotypicFeature Decreased circulating renin level An decreased level of renin in the blood. UMLS:C1845206 hp.json Decreased plasma renin activity|Low plasma renin activity|Suppressed plasma renin activity http://purl.obolibrary.org/obo/HP_0003351 UBERON:0003288 biolink:AnatomicalEntity meninx of midbrain A meninx that is part of a midbrain [Automatically generated definition]. MA:0001058|EMAPA:17791|RETIRED_EHDAA2:0001109|EHDAA:3708|EHDAA2:0001174|VHOG:0000012 hp.json midbrain meninges|meninges of midbrain|midbrain meninx|mesencephalon meninges http://purl.obolibrary.org/obo/UBERON_0003288 HP:0040313 biolink:PhenotypicFeature Oligoarthritis A type of arthritis that affects up to four joints in the first six months of disease. hp.json http://purl.obolibrary.org/obo/HP_0040313 HP:0040314 biolink:PhenotypicFeature Blind vagina The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. hp.json Blind-ended vagina http://purl.obolibrary.org/obo/HP_0040314 UBERON:0015251 biolink:AnatomicalEntity modified sebaceous gland MA:0003043|EMAPA:37680 hp.json http://purl.obolibrary.org/obo/UBERON_0015251 UBERON:0039261 biolink:AnatomicalEntity pancreatic artery FMA:70471 hp.json http://purl.obolibrary.org/obo/UBERON_0039261 HP:0040311 biolink:PhenotypicFeature Symmetric polyarthritis Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion. hp.json http://purl.obolibrary.org/obo/HP_0040311 HP:0040312 biolink:PhenotypicFeature Temporomandibular arthritis hp.json Arthritis of temporomandibular joint http://purl.obolibrary.org/obo/HP_0040312 HP:0040317 biolink:PhenotypicFeature Blue urine An abnormal blue color of the urine. hp.json http://purl.obolibrary.org/obo/HP_0040317 HP:0040318 biolink:PhenotypicFeature Red urine An abnormal red color of the urine. hp.json http://purl.obolibrary.org/obo/HP_0040318 HP:0040315 biolink:PhenotypicFeature Tongue edema An abnormal accumulation of fluid and swelling in the tongue. hp.json Tongue oedema http://purl.obolibrary.org/obo/HP_0040315 HP:0040316 biolink:PhenotypicFeature obsolete Aplasia of the penis hp.json http://purl.obolibrary.org/obo/HP_0040316 HP:0030990 biolink:PhenotypicFeature Pleomorphic cholangitis Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree. hp.json http://purl.obolibrary.org/obo/HP_0030990 HP:0030991 biolink:PhenotypicFeature Sclerosing cholangitis Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. hp.json Fibrous cholangitis http://purl.obolibrary.org/obo/HP_0030991 HP:0040319 biolink:PhenotypicFeature Dark urine An abnormal dark color of the urine. hp.json http://purl.obolibrary.org/obo/HP_0040319 HP:0030992 biolink:PhenotypicFeature Abnormal pancreatic duct morphology Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. hp.json http://purl.obolibrary.org/obo/HP_0030992 HP:0030993 biolink:PhenotypicFeature Duplication of pancreatic duct A congenital anomaly characterized by the presence of two separate pancreatic ducts. hp.json Duplicated pancreatic duct http://purl.obolibrary.org/obo/HP_0030993 HP:0003329 biolink:PhenotypicFeature Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes UMLS:C4025631 hp.json http://purl.obolibrary.org/obo/HP_0003329 HP:0003324 biolink:PhenotypicFeature Generalized muscle weakness Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. UMLS:C0746674 hp.json Generalized weakness|Muscle weakness, generalized|Muscle weakness, diffuse|Generalised muscle weakness|Muscle weakness, generalised|Generalised weakness http://purl.obolibrary.org/obo/HP_0003324 HP:0030998 biolink:PhenotypicFeature Cerebrospinal fluid rhinorrhoea Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose. hp.json CSF rhinorrhoea http://purl.obolibrary.org/obo/HP_0030998 HP:0005987 biolink:PhenotypicFeature Multinodular goiter Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. UMLS:C0342208|SNOMEDCT_US:237570007 hp.json Multinodular goitre http://purl.obolibrary.org/obo/HP_0005987 HP:0003323 biolink:PhenotypicFeature Progressive muscle weakness UMLS:C0240421 hp.json Muscle weakness, progressive|Progressive muscular weakness http://purl.obolibrary.org/obo/HP_0003323 HP:0005988 biolink:PhenotypicFeature Congenital muscular torticollis A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. SNOMEDCT_US:268240006|UMLS:C0079352|MSH:C535425 hp.json Torticollis, congenital http://purl.obolibrary.org/obo/HP_0005988 HP:0030999 biolink:PhenotypicFeature Abnormal vestibular saccule morphology Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement). hp.json http://purl.obolibrary.org/obo/HP_0030999 HP:0005989 biolink:PhenotypicFeature Redundant neck skin Excess skin around the neck, often lying in horizontal folds. UMLS:C1840319 hp.json Excess skin over the neck|Excessive nuchal skin|Redundant nuchal skin|Redundant neck skin|Redundant skin over the neck|Redundant skin folds of neck|Excess neck skin http://purl.obolibrary.org/obo/HP_0005989 HP:0003321 biolink:PhenotypicFeature Biconcave flattened vertebrae UMLS:C1833753 hp.json http://purl.obolibrary.org/obo/HP_0003321 HP:0003328 biolink:PhenotypicFeature Abnormal hairshaft morphology An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin. UMLS:C4025632 hp.json http://purl.obolibrary.org/obo/HP_0003328 HP:0030994 biolink:PhenotypicFeature Pancreas divisum A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present. hp.json http://purl.obolibrary.org/obo/HP_0030994 HP:0030995 biolink:PhenotypicFeature Peritoneal effusion An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). hp.json http://purl.obolibrary.org/obo/HP_0030995 HP:0003327 biolink:PhenotypicFeature Axial muscle weakness Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). UMLS:C1843697 hp.json http://purl.obolibrary.org/obo/HP_0003327 HP:0005984 biolink:PhenotypicFeature Elevated maternal serum alpha-fetoprotein An elevation of alpha-feto protein in the maternal serum. UMLS:C0740927 hp.json http://purl.obolibrary.org/obo/HP_0005984 MPATH:342 biolink:NamedThing myeloid leukaemia Leukaemias of the myeloid lineage. URL:http://www.bloodjournal.org/cgi/content/full/100/1/238/DC1/2 hp.json granulocytic leukaemia http://purl.obolibrary.org/obo/MPATH_342 HP:0030996 biolink:PhenotypicFeature Megaduodenum Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum. hp.json http://purl.obolibrary.org/obo/HP_0030996 HP:0003326 biolink:PhenotypicFeature Myalgia Pain in muscle. SNOMEDCT_US:68962001|UMLS:C0231528|MSH:D063806 hp.json Myalgias|Muscle pain|Muscle ache http://purl.obolibrary.org/obo/HP_0003326 HP:0030997 biolink:PhenotypicFeature Atretic vas deferens Abnormal closure or blockage of the vas deferens. hp.json Vas deferens atresia|Atresia of the vas deferens http://purl.obolibrary.org/obo/HP_0030997 HP:0003325 biolink:PhenotypicFeature Limb-girdle muscle weakness Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. UMLS:C1858127 hp.json Muscle weakness, limb-girdle|Muscular weakness, limb-girdle|Limb girdle weakness http://purl.obolibrary.org/obo/HP_0003325 HP:0005986 biolink:PhenotypicFeature Limitation of neck motion UMLS:C0151315|SNOMEDCT_US:405947006|SNOMEDCT_US:161882006|UMLS:C1847392|MSH:D009127|UMLS:C1320474 hp.json Limited neck mobility|Limitation of neck motion|Restricted neck movement http://purl.obolibrary.org/obo/HP_0005986 MPATH:346 biolink:NamedThing autoimmune mediated disease hp.json http://purl.obolibrary.org/obo/MPATH_346 HP:0005982 biolink:PhenotypicFeature Reduced phenylalanine hydroxylase level A reduction in phenylalanine 4-monooxygenase level. UMLS:C4025094|SNOMEDCT_US:7573000|MSH:D010661|UMLS:C0751434 hp.json Phenylalanine hydroxylase deficiency http://purl.obolibrary.org/obo/HP_0005982 HP:0003320 biolink:PhenotypicFeature C1-C2 subluxation A partial dislocation of the atlantoaxial joints. UMLS:C1848446 hp.json http://purl.obolibrary.org/obo/HP_0003320 UBERON:0003278 biolink:AnatomicalEntity skeleton of lower jaw A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. VHOG:0000428|EMAPA:17906|MA:0001906|ZFA:0001273|EHDAA:8005|TAO:0001273|XAO:0003084|AAO:0000274|FMA:54398|EMAPA:17910|EHDAA2:0004606 hp.json mandible|lower jaw skeleton|mandibles|mandibular series|lower jaw|lower jaw http://purl.obolibrary.org/obo/UBERON_0003278 pheno_slim CHEBI:46818 biolink:ChemicalSubstance urate anion An organic anion obtained by removal of at least one proton from any uric acid. hp.json urate anion http://purl.obolibrary.org/obo/CHEBI_46818 3_STAR UBERON:0003279 biolink:AnatomicalEntity endothelium of trachea An endothelium that is part of a trachea. RETIRED_EHDAA2:0002068|EHDAA:3082 hp.json windpipe endothelium|trachea endothelium|endothelium of windpipe http://purl.obolibrary.org/obo/UBERON_0003279 HP:0040310 biolink:PhenotypicFeature Sterile arthritis An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures. hp.json http://purl.obolibrary.org/obo/HP_0040310 CHEBI:46819 biolink:ChemicalSubstance urate salt hp.json http://purl.obolibrary.org/obo/CHEBI_46819 1_STAR UBERON:0003277 biolink:AnatomicalEntity skeleton of upper jaw A subdivision of the skeleton that corresponds to the upper part of the mouth. The lower jaw skeleton includes the following elements, when present: upper jaw teeth, the maxilla and other lower jaw bones. EHDAA2:0002128|VHOG:0000429|AAO:0000622|MA:0001908|XAO:0003087|EMAPA:17927|FMA:54397|EHDAA:8041 hp.json upper jaw|upper jaw skeleton http://purl.obolibrary.org/obo/UBERON_0003277 pheno_slim HP:0040324 biolink:PhenotypicFeature Heliotrope rash In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower. hp.json Heliotrope erythema http://purl.obolibrary.org/obo/HP_0040324 HP:0040325 biolink:PhenotypicFeature Bull's eye rash A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings. hp.json http://purl.obolibrary.org/obo/HP_0040325 HP:0040322 biolink:PhenotypicFeature Purple urine An abnormal purple color of the urine. hp.json http://purl.obolibrary.org/obo/HP_0040322 HP:0040323 biolink:PhenotypicFeature Erythema of the eyelids Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin. hp.json Erythema of eyelid|Eyelid erythema http://purl.obolibrary.org/obo/HP_0040323 HP:0040328 biolink:PhenotypicFeature Focal hyperintensity of cerebral white matter on MRI An abnormal area of increased brightness (hyperintensity) that is limited to one particular area. hp.json http://purl.obolibrary.org/obo/HP_0040328 HP:0040329 biolink:PhenotypicFeature Multifocal hyperintensity of cerebral white matter on MRI An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas. hp.json http://purl.obolibrary.org/obo/HP_0040329 HP:0040326 biolink:PhenotypicFeature Hypoplasia of the olfactory bulb Underdevelopment of the olfactory bulb. hp.json Hypoplastic olfactory bulb|Hypoplasia of olfactory bulb http://purl.obolibrary.org/obo/HP_0040326 HP:0040327 biolink:PhenotypicFeature Abnormal morphology of the olfactory bulb An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell. hp.json http://purl.obolibrary.org/obo/HP_0040327 UBERON:0015249 biolink:AnatomicalEntity digit skin A zone of skin that is part of a digit [Automatically generated definition]. EMAPA:32615|MA:0003011 hp.json http://purl.obolibrary.org/obo/UBERON_0015249 pheno_slim HP:0003335 biolink:PhenotypicFeature obsolete Low gonadotropins (secondary hypogonadism) hp.json http://purl.obolibrary.org/obo/HP_0003335 HP:0003334 biolink:PhenotypicFeature Elevated circulating catecholamine level An abnormal increase in catecholamine concentration in the blood. UMLS:C4025629 hp.json http://purl.obolibrary.org/obo/HP_0003334 HP:0005999 biolink:PhenotypicFeature Ureteral atresia A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. UMLS:C0266320|SNOMEDCT_US:204974003|SNOMEDCT_US:49534003 hp.json http://purl.obolibrary.org/obo/HP_0005999 HP:0003333 biolink:PhenotypicFeature Increased serum beta-hexosaminidase UMLS:C2673361 hp.json http://purl.obolibrary.org/obo/HP_0003333 UBERON:0003261 biolink:AnatomicalEntity thyroid primordium endoderm An endoderm that is part of a thyroid primordium. EMAPA:25357|EHDAA:956|VHOG:0001089|RETIRED_EHDAA2:0002035 hp.json endoderm of thyroid primordium http://purl.obolibrary.org/obo/UBERON_0003261 UBERON:0003262 biolink:AnatomicalEntity amniotic mesoderm A mesenchyme that is part of a amnion. EMAPA:16265|EMAPA:16111|VHOG:0000622|EHDAA:140|EHDAA2:0000118 hp.json mesenchyme of amnion|amnion mesoderm|amnionic mesenchyme|amnionic mesoderm|amnion mesenchyme|amnionic mesoderm http://purl.obolibrary.org/obo/UBERON_0003262 HP:0003332 biolink:PhenotypicFeature Absent primary metaphyseal spongiosa UMLS:C3277126 hp.json http://purl.obolibrary.org/obo/HP_0003332 HP:0005994 biolink:PhenotypicFeature Nodular goiter Enlargement of the thyroid gland related to one or more nodules in the thyroid gland. UMLS:C0018023|SNOMEDCT_US:419153005|MSH:D006044 hp.json Nodular goitre http://purl.obolibrary.org/obo/HP_0005994 HP:0003339 biolink:PhenotypicFeature Pyrimidine-responsive megaloblastic anemia A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid. UMLS:C4021731 hp.json Anemia corrected by uridylic acid and cytidylic acid|Anaemia corrected by uridylic acid and cytidylic acid|Pyrimidine-responsive megaloblastic anaemia http://purl.obolibrary.org/obo/HP_0003339 HP:0005995 biolink:PhenotypicFeature Decreased adipose tissue around neck Reduced amount of adipose tissue in the region of the neck. UMLS:C1837763 hp.json Loss of fat around neck|Loss of adipose tissue around the neck http://purl.obolibrary.org/obo/HP_0005995 HP:0003338 biolink:PhenotypicFeature Focal necrosis of right ventricular muscle cells UMLS:C4025627 hp.json http://purl.obolibrary.org/obo/HP_0003338 UBERON:0003260 biolink:AnatomicalEntity endoderm of hindgut An endoderm that is part of a hindgut [Automatically generated definition]. EHDAA:979|RETIRED_EHDAA2:0000781 hp.json hindgut endoderm http://purl.obolibrary.org/obo/UBERON_0003260 HP:0003337 biolink:PhenotypicFeature Reduced prothrombin consumption The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. UMLS:C4021732 hp.json Poor prothrombin consumption http://purl.obolibrary.org/obo/HP_0003337 HP:0005997 biolink:PhenotypicFeature Neck joint contracture UMLS:C1867006 hp.json Restricted neck movement due to contractures|Restricted neck mobility due to contractures|Neck joint contracture http://purl.obolibrary.org/obo/HP_0005997 HP:0003336 biolink:PhenotypicFeature Abnormal enchondral ossification An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. UMLS:C4025628 hp.json http://purl.obolibrary.org/obo/HP_0003336 HP:0005990 biolink:PhenotypicFeature Thyroid hypoplasia Developmental hypoplasia of the thyroid gland. MSH:D050033|SNOMEDCT_US:367524008|UMLS:C0151516 hp.json Hypoplastic thyroid|Small thyroid gland http://purl.obolibrary.org/obo/HP_0005990 HP:0005991 biolink:PhenotypicFeature Limited neck flexion Reduced abilty to lower the chin towards the chest by bending the neck. UMLS:C1864449 hp.json Limited cervical flexion|Limited neck flexibility http://purl.obolibrary.org/obo/HP_0005991 MPATH:335 biolink:NamedThing hematopoietic/lymphoid malignancies/disorder Proliferative disorders and malignancies of the lymphoid and non lymphoid haematopoietic lineages. hp.json http://purl.obolibrary.org/obo/MPATH_335 UBERON:0003269 biolink:AnatomicalEntity skeletal muscle tissue of eye A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. EHDAA2:0000486|EMAPA:17844|EHDAA:2923 hp.json eye skeletal muscle tissue|eye skeletal muscle group|skeletal muscle tissue of eye|eye skeletal muscle http://purl.obolibrary.org/obo/UBERON_0003269 HP:0040320 biolink:PhenotypicFeature Red-brown urine An abnormal red-brown color of the urine. hp.json red brown urine http://purl.obolibrary.org/obo/HP_0040320 UBERON:0003267 biolink:AnatomicalEntity tooth of upper jaw A calcareous tooth that is part of the upper jaw region. In mammals, the upper jaw teeth are attached to the maxilla. MA:0001909|UMLS:C1710581|EMAPA:17938|NCIT:C49792|EHDAA:8045 hp.json upper jaw tooth|maxillary tooth http://purl.obolibrary.org/obo/UBERON_0003267 UBERON:0003268 biolink:AnatomicalEntity tooth of lower jaw A calcareous tooth that is part of the lower jaw region. In mammals, the lower jaw teeth are attached to the mandible (dentary). EHDAA2:0001029|UMLS:C1708757|EHDAA:8009|EMAPA:17917|MA:0001907|FMA:321647|NCIT:C49582 hp.json mandibular tooth|lower jaw dentine containing tooth|lower jaw tooth|lower jaw vertebrate tooth|lower jaw calcareous tooth|calcareous tooth of lower jaw http://purl.obolibrary.org/obo/UBERON_0003268 HP:0040321 biolink:PhenotypicFeature Dark yellow urine An abnormal dark-yellow color of the urine. hp.json http://purl.obolibrary.org/obo/HP_0040321 HP:0003330 biolink:PhenotypicFeature Abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton. UMLS:C4025630 hp.json http://purl.obolibrary.org/obo/HP_0003330 UBERON:0003265 biolink:AnatomicalEntity chorionic mesenchyme A mesenchyme that is part of a chorion. EMAPA:16266|EHDAA:154|EHDAA2:0003245|VHOG:0000620|RETIRED_EHDAA2:0000247|EMAPA:16114 hp.json chorion mesoderm|mesenchyme of chorion|mesenchyme of chorion (vertebrates)|chorion mesenchyme|chorionic mesenchyme http://purl.obolibrary.org/obo/UBERON_0003265 CHEBI:83813 biolink:ChemicalSubstance proteinogenic amino acid Any of the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. Apart from glycine, which is non-chiral, all have L configuration. Wikipedia:Proteinogenic_amino_acid hp.json proteinogenic amino acids|canonical amino acid|canonical amino acids http://purl.obolibrary.org/obo/CHEBI_83813 3_STAR CHEBI:83812 biolink:ChemicalSubstance non-proteinogenic amino acid derivative Any derivative of a non-proteinogenic amino acid resulting from reaction at an amino group or carboxy group, or from the replacement of any hydrogen by a heteroatom. hp.json non-canonical amino-acid derivatives|non-canonical amino acid derivative|non-proteinogenic amino-acid derivatives http://purl.obolibrary.org/obo/CHEBI_83812 3_STAR CHEBI:83811 biolink:ChemicalSubstance proteinogenic amino acid derivative Any derivative of a proteinogenic amino acid resulting from reaction at an amino group, carboxy group, or a side-chain functional group, or from the replacement of any hydrogen by a heteroatom. hp.json canonical amino-acid derivatives|canonical amino-acid derivative|proteinogenic amino acid derivatives|canonical amino acid derivative|proteinogenic amino-acid derivatives|proteinogenic amino-acid derivative|canonical amino acid derivatives http://purl.obolibrary.org/obo/CHEBI_83811 3_STAR HP:0030932 biolink:PhenotypicFeature 1-minute APGAR score of 5 hp.json http://purl.obolibrary.org/obo/HP_0030932 HP:0030933 biolink:PhenotypicFeature 1-minute APGAR score of 6 hp.json http://purl.obolibrary.org/obo/HP_0030933 HP:0030934 biolink:PhenotypicFeature Oral erythroplakia A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed. hp.json Oral erythroplasia http://purl.obolibrary.org/obo/HP_0030934 HP:0003388 biolink:PhenotypicFeature Easy fatigability Increased susceptibility to fatigue. SNOMEDCT_US:248268002|UMLS:C1837098|UMLS:C0424585 hp.json Tired easily http://purl.obolibrary.org/obo/HP_0003388 HP:0003387 biolink:PhenotypicFeature Decreased number of large peripheral myelinated nerve fibers A reduced number of large myelinated nerve fibers. UMLS:C1859606 hp.json Depletion of large myelinated fibres|Loss of large myelinated fibers|Decreased number of large peripheral myelinated nerve fibres|Loss of large myelinated fibres|Loss of larger myelinated nerve fibers|Depletion of large myelinated fibers|Loss of larger myelinated nerve fibres http://purl.obolibrary.org/obo/HP_0003387 HP:0030935 biolink:PhenotypicFeature Abnormality of intestinal smooth muscle morphology A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine. hp.json http://purl.obolibrary.org/obo/HP_0030935 HP:0030930 biolink:PhenotypicFeature 1-minute APGAR score of 3 hp.json http://purl.obolibrary.org/obo/HP_0030930 HP:0030931 biolink:PhenotypicFeature 1-minute APGAR score of 4 hp.json http://purl.obolibrary.org/obo/HP_0030931 MPATH:322 biolink:NamedThing teratoma Generally benign germ cell derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor. Malignant tumors are highly metatstatic. (M-9080/1). hp.json http://purl.obolibrary.org/obo/MPATH_322 HP:0003382 biolink:PhenotypicFeature Hypertrophic nerve changes UMLS:C1832776 hp.json http://purl.obolibrary.org/obo/HP_0003382 HP:0003380 biolink:PhenotypicFeature Decreased number of peripheral myelinated nerve fibers A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). UMLS:C1858285 hp.json Loss of myelinated fibres|Decreased number of large and small myelinated fibers|Decreased number of peripheral myelinated nerve fibres|Decreased number of large and small myelinated fibres|Loss of myelinated fibers http://purl.obolibrary.org/obo/HP_0003380 HP:0030936 biolink:PhenotypicFeature Abnormal layering of muscularis propria Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer. hp.json Segmental additional circular muscle coat|Muscularis propria malformation http://purl.obolibrary.org/obo/HP_0030936 HP:0030937 biolink:PhenotypicFeature Fibrotic muscularis propria The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process. hp.json http://purl.obolibrary.org/obo/HP_0030937 HP:0030938 biolink:PhenotypicFeature Enteric intraneuronal nuclear inclusion bodies Aggregates of stainable substances (proteins) in the nuclei of enteric neurons. hp.json http://purl.obolibrary.org/obo/HP_0030938 HP:0003384 biolink:PhenotypicFeature Peripheral axonal atrophy Atrophic changes of axons of the peripheral nervous system. UMLS:C4025619 hp.json http://purl.obolibrary.org/obo/HP_0003384 HP:0030939 biolink:PhenotypicFeature Palpebral thickening An increased thickness of the eyelid not related to acute inflammation. hp.json Eyelid thickening|Thickened eyelid|Thickened but nonswollen eyelids|Thick eyelids http://purl.obolibrary.org/obo/HP_0030939 HP:0003383 biolink:PhenotypicFeature Onion bulb formation Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. UMLS:C1847906 hp.json Onion bulb formations http://purl.obolibrary.org/obo/HP_0003383 CHEBI:83822 biolink:ChemicalSubstance non-proteinogenic L-alpha-amino acid Any L-alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. hp.json non-proteinogenic L-alpha-amino acids http://purl.obolibrary.org/obo/CHEBI_83822 3_STAR CHEBI:83821 biolink:ChemicalSubstance amino acid derivative Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues. hp.json modified amino acids|amino acid derivatives http://purl.obolibrary.org/obo/CHEBI_83821 3_STAR CHEBI:83820 biolink:ChemicalSubstance non-proteinogenic amino acid Any amino-acid that is not naturally encoded in the genetic code of any organism. Wikipedia:Non-proteinogenic_amino_acids hp.json non-proteinogenic amino-acid|non-coded amino-acids|non-canonical amino-acids|non-canonical amino acid|non-coded amino acids|non-coded amino acid|non-canonical amino acids|non-canonical amino-acid|non-coded amino-acid|non-proteinogenic amino-acids|non-proteinogenic amino acids http://purl.obolibrary.org/obo/CHEBI_83820 3_STAR HP:0030943 biolink:PhenotypicFeature Vulvodynia Pain in the vulvar area hp.json Vulvar pain http://purl.obolibrary.org/obo/HP_0030943 HP:0030946 biolink:PhenotypicFeature Conjunctival papillae Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells. hp.json http://purl.obolibrary.org/obo/HP_0030946 HP:0003398 biolink:PhenotypicFeature Abnormal synaptic transmission at the neuromuscular junction Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. UMLS:C4025618|UMLS:C4020842 hp.json Abnormality of neuromuscular transmission http://purl.obolibrary.org/obo/HP_0003398 MPATH:310 biolink:NamedThing germ cell tumor Neoplasms derived from germ cells. May be gonadal or extragonadal and are derived from primordial germ cells. hp.json http://purl.obolibrary.org/obo/MPATH_310 HP:0003393 biolink:PhenotypicFeature Thenar muscle atrophy Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. UMLS:C1864715 hp.json Thenar atrophy http://purl.obolibrary.org/obo/HP_0003393 HP:0003392 biolink:PhenotypicFeature First dorsal interossei muscle weakness UMLS:C1832277 hp.json http://purl.obolibrary.org/obo/HP_0003392 HP:0003391 biolink:PhenotypicFeature Gowers sign A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. SNOMEDCT_US:298294005|UMLS:C0234182|UMLS:C0575071|SNOMEDCT_US:85905009 hp.json Positive Gower sign|Gower sign|Positive Gowers sign http://purl.obolibrary.org/obo/HP_0003391 HP:0003390 biolink:PhenotypicFeature Sensory axonal neuropathy An axonal neuropathy of peripheral sensory nerves. UMLS:C1842587|UMLS:C1970883 hp.json Axonal sensory neuropathy|Peripheral sensory axonal neuropathy http://purl.obolibrary.org/obo/HP_0003390 HP:0030947 biolink:PhenotypicFeature Conjunctival follicles Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells. hp.json http://purl.obolibrary.org/obo/HP_0030947 HP:0003397 biolink:PhenotypicFeature Generalized hypotonia due to defect at the neuromuscular junction UMLS:C1853950 hp.json Generalised hypotonia due to defect at the neuromuscular junction http://purl.obolibrary.org/obo/HP_0003397 HP:0003396 biolink:PhenotypicFeature Syringomyelia Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. MSH:D013595|UMLS:C0039144|SNOMEDCT_US:111496009 hp.json Fluid-filled cyst in spinal cord|Syrinx http://purl.obolibrary.org/obo/HP_0003396 HP:0030948 biolink:PhenotypicFeature Elevated gamma-glutamyltransferase level Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. hp.json Elevated serum GGT http://purl.obolibrary.org/obo/HP_0030948 HP:0030949 biolink:PhenotypicFeature Glomerular deposits An abnormal accumulation of protein in the glomerulus. hp.json http://purl.obolibrary.org/obo/HP_0030949 HP:0003394 biolink:PhenotypicFeature Muscle spasm Sudden and involuntary contractions of one or more muscles. UMLS:C0026821|SNOMEDCT_US:55300003|MSH:D009120 hp.json Muscle cramps http://purl.obolibrary.org/obo/HP_0003394 NBO:0001845 biolink:NamedThing consumption behavior "Behavior related to the intake of substances." [NBOC:GVG] hp.json ingest http://purl.obolibrary.org/obo/NBO_0001845 UBERON:0039222 biolink:AnatomicalEntity cystic artery An artery that supplies oxygenated blood to the cystic duct. FMA:14835 hp.json cholecystic artery http://purl.obolibrary.org/obo/UBERON_0039222 NCBITaxon:9604 biolink:OrganismalEntity Hominidae hp.json http://purl.obolibrary.org/obo/NCBITaxon_9604 NCBITaxon:9605 biolink:OrganismalEntity Homo hp.json http://purl.obolibrary.org/obo/NCBITaxon_9605 NCBITaxon:9606 biolink:OrganismalEntity Homo sapiens hp.json human|h http://purl.obolibrary.org/obo/NCBITaxon_9606 UBERON:0039228 biolink:AnatomicalEntity sigmoid vein FMA:15395 hp.json http://purl.obolibrary.org/obo/UBERON_0039228 HP:0003368 biolink:PhenotypicFeature Abnormal femoral head morphology An abnormality of the femoral head. UMLS:C4025620 hp.json Abnormality of the femoral head|Abnormal head of thigh bone http://purl.obolibrary.org/obo/HP_0003368 HP:0030955 biolink:PhenotypicFeature Alcoholism An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol. hp.json http://purl.obolibrary.org/obo/HP_0030955 HP:0003367 biolink:PhenotypicFeature Abnormal femoral neck morphology An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). UMLS:C4025621 hp.json Abnormality of the femoral neck|Abnormal neck of thigh bone http://purl.obolibrary.org/obo/HP_0003367 HP:0030956 biolink:PhenotypicFeature Abnormality of cardiovascular system electrophysiology An anomaly of the electrical conduction physiology of the heart. hp.json http://purl.obolibrary.org/obo/HP_0030956 HP:0003366 biolink:PhenotypicFeature Abnormal femoral neck/head morphology UMLS:C4025622 hp.json Abnormality of the femoral neck or head region|Abnormal neck or head of thigh bone http://purl.obolibrary.org/obo/HP_0003366 HP:0030957 biolink:PhenotypicFeature Ventricular septal aneurysm A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion. hp.json Ventricular septal dilatation http://purl.obolibrary.org/obo/HP_0030957 HP:0003365 biolink:PhenotypicFeature Arthralgia of the hip Joint pain affecting the hip. UMLS:C0019559|SNOMEDCT_US:49218002 hp.json Coxalgia|Hip arthralgia|Hip joint pain http://purl.obolibrary.org/obo/HP_0003365 HP:0030950 biolink:PhenotypicFeature Pulmonary venous hypertension An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension. hp.json http://purl.obolibrary.org/obo/HP_0030950 HP:0030951 biolink:PhenotypicFeature Skeletal muscle fibrosis Excessive formation of fibrous bands of scar tissue in between muscle fibers. hp.json http://purl.obolibrary.org/obo/HP_0030951 HP:0030952 biolink:PhenotypicFeature Birdshot retinochoroidopathy Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus. hp.json Birdshot laesions|Birdshot lesions|Birdshot choroidal lesions http://purl.obolibrary.org/obo/HP_0030952 HP:0030953 biolink:PhenotypicFeature Conjunctival hyperemia Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. hp.json Conjunctival injection|Conjunctival vascular congestion|Conjunctival hyperaemia http://purl.obolibrary.org/obo/HP_0030953 HP:0030958 biolink:PhenotypicFeature Membranous ventricular septal aneurysm Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). Fyler:2346 hp.json Aneurysm of the membranous ventricular septum|Interventricular septum membranous part aneurysm http://purl.obolibrary.org/obo/HP_0030958 HP:0003363 biolink:PhenotypicFeature Abdominal situs inversus A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen. Fyler:3816|SNOMEDCT_US:27317008|MSH:D012857|SNOMEDCT_US:43876007|UMLS:C0037221 hp.json Situs inversus viscerum|Situs inversus visceralis http://purl.obolibrary.org/obo/HP_0003363 HP:0030959 biolink:PhenotypicFeature Muscular ventricular septal aneurysm Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). hp.json Aneurysm of the muscular ventricular septum http://purl.obolibrary.org/obo/HP_0030959 MPATH:309 biolink:NamedThing gonadal tumor Germ cell and non-germ cell tumors of the testis and ovary. hp.json http://purl.obolibrary.org/obo/MPATH_309 HP:0003362 biolink:PhenotypicFeature Increased VLDL cholesterol concentration An increase in the amount of very-low-density lipoprotein cholesterol in the blood. UMLS:C4021729 hp.json Increased circulating very-low-density lipoprotein cholesterol|Increased plasma VLDL cholesterol|Increased circulating very-low-density lipoprotein levels http://purl.obolibrary.org/obo/HP_0003362 HP:0003361 biolink:PhenotypicFeature Tryptophanuria An increased concentration of tryptophan in the urine. SNOMEDCT_US:18789002|UMLS:C0268472 hp.json High urine tryptophan levels http://purl.obolibrary.org/obo/HP_0003361 UBERON:0015281 biolink:AnatomicalEntity pancreas right lobe A pancreatic lobule that is in_the_right_side_of a exocrine pancreas. MA:0000723|EMAPA:37712 hp.json http://purl.obolibrary.org/obo/UBERON_0015281 UBERON:0015280 biolink:AnatomicalEntity pancreas left lobe A pancreatic lobule that is in_the_left_side_of a exocrine pancreas. MA:0000722|EMAPA:37711 hp.json http://purl.obolibrary.org/obo/UBERON_0015280 HP:0030960 biolink:PhenotypicFeature obsolete Abnormal pupillary morphology hp.json http://purl.obolibrary.org/obo/HP_0030960 HP:0030965 biolink:PhenotypicFeature Aortic stiffness The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension. hp.json Increased aortic stiffness http://purl.obolibrary.org/obo/HP_0030965 HP:0030966 biolink:PhenotypicFeature Abnormal pulmonary artery morphology An abnormality of the structure of the pulmonary artery. hp.json http://purl.obolibrary.org/obo/HP_0030966 HP:0003378 biolink:PhenotypicFeature Axonal degeneration/regeneration A pattern of simultaneous degeneration and regeneration of axons (see comment). UMLS:C1968790 hp.json Axon degeneration and regeneration http://purl.obolibrary.org/obo/HP_0003378 HP:0030967 biolink:PhenotypicFeature Abnormal pulmonary artery physiology An abnormality of the function of the pulmonary artery. hp.json http://purl.obolibrary.org/obo/HP_0030967 HP:0003376 biolink:PhenotypicFeature Steppage gait An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. MSH:D020233|UMLS:C0427149|SNOMEDCT_US:27253007 hp.json High stepping http://purl.obolibrary.org/obo/HP_0003376 HP:0030968 biolink:PhenotypicFeature Abnormal pulmonary vein morphology An abnormality of the structure of the pulmonary veins. Fyler:3000 hp.json http://purl.obolibrary.org/obo/HP_0030968 HP:0030961 biolink:PhenotypicFeature Microspherophakia Lens of the eye is smaller than normal and spherically shaped. hp.json http://purl.obolibrary.org/obo/HP_0030961 HP:0030962 biolink:PhenotypicFeature Abnormal morphology of the great vessels A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. hp.json http://purl.obolibrary.org/obo/HP_0030962 HP:0030963 biolink:PhenotypicFeature obsolete Abnormal aortic morphology hp.json http://purl.obolibrary.org/obo/HP_0030963 HP:0030964 biolink:PhenotypicFeature Abnormal aortic physiology hp.json http://purl.obolibrary.org/obo/HP_0030964 HP:0003371 biolink:PhenotypicFeature Enlargement of the proximal femoral epiphysis An abnormal enlargement of the proximal epiphysis of the femur. UMLS:C1859697 hp.json Enlarged end part of innermost thighbone|Enlarged capital femoral epiphyses http://purl.obolibrary.org/obo/HP_0003371 HP:0003370 biolink:PhenotypicFeature Flat capital femoral epiphysis An abnormal flattening of the proximal epiphysis of the femur. UMLS:C1842155 hp.json Flat capital femoral epiphyses|Flat proximal femoral epiphyses|Flat femoral capital epiphyses|Flat end part of innermost thighbone|Flattened proximal femoral epiphyses http://purl.obolibrary.org/obo/HP_0003370 HP:0003375 biolink:PhenotypicFeature Narrow greater sciatic notch A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. SNOMEDCT_US:289457006|UMLS:C0566888 hp.json Narrow sacrosciatic notch|Narrow greater sacrosciatic notches|Narrow sciatic notches|Small sacrosciatic notch|Narrow sacroiliac notch|Small sacrosciatic notches|Narrowed sacrosciatic notch|Narrowed greater sciatic notch http://purl.obolibrary.org/obo/HP_0003375 HP:0030969 biolink:PhenotypicFeature Abnormal pulmonary vein physiology An abnormality of the function of the pulmonary veins. hp.json http://purl.obolibrary.org/obo/HP_0030969 GO:0043170 biolink:BiologicalProcess macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. hp.json multicellular organismal macromolecule metabolic process|organismal macromolecule metabolism|macromolecule metabolism|biopolymer metabolic process http://purl.obolibrary.org/obo/GO_0043170 goslim_pir HP:0005929 biolink:PhenotypicFeature Synostosis involving the tibia UMLS:C4025103 hp.json Bone fusion involving the shinbone http://purl.obolibrary.org/obo/HP_0005929 HP:0005925 biolink:PhenotypicFeature Abnormal hand diaphysis morphology UMLS:C4025106 hp.json Abnormalities of shaft of long bone of the hand|Abnormalities of the diaphyses of the hand http://purl.obolibrary.org/obo/HP_0005925 HP:0005926 biolink:PhenotypicFeature Abnormal hand cortical bone morphology An anomaly of the outer shell (cortex) of a hand bone. UMLS:C4025105 hp.json Abnormality of hand cortical bone|Abnormality of the cortex of hand bones http://purl.obolibrary.org/obo/HP_0005926 HP:0005927 biolink:PhenotypicFeature Aplasia/hypoplasia involving bones of the hand Absence (due to failure to form) or underdevelopment of the bones of the hand. UMLS:C4021612 hp.json Absent/underdeveloped hand bones|Hypoplasia/absence of hand bones|Absent/small hand bones http://purl.obolibrary.org/obo/HP_0005927 GO:0043177 biolink:MolecularActivity organic acid binding Binding to an organic acid, any acidic compound containing carbon in covalent linkage. hp.json http://purl.obolibrary.org/obo/GO_0043177 GO:0043176 biolink:MolecularActivity amine binding Binding to an amine, a weakly basic organic compound that contains an amino or a substituted amino group. hp.json http://purl.obolibrary.org/obo/GO_0043176 goslim_pir HP:0005928 biolink:PhenotypicFeature Synostosis involving the fibula UMLS:C4025104 hp.json Bone fusion involving the calf bones http://purl.obolibrary.org/obo/HP_0005928 HP:0005921 biolink:PhenotypicFeature obsolete Abnormal ossification of hand bones hp.json http://purl.obolibrary.org/obo/HP_0005921 HP:0005922 biolink:PhenotypicFeature Abnormal hand morphology Any structural anomaly of the hand. UMLS:C4025109 hp.json Abnormal shape of hand http://purl.obolibrary.org/obo/HP_0005922 UBERON:0005870 biolink:AnatomicalEntity olfactory pit An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]. XAO:0004073|EHDAA2:0001295|EMAPA:16800|EFO:0003496|XAO:0000275|EHDAA:4772|AAO:0011068|FMA:295840 hp.json nasal pit http://purl.obolibrary.org/obo/UBERON_0005870 pheno_slim|efo_slim HP:0005923 biolink:PhenotypicFeature Abnormal hand metaphysis morphology UMLS:C4025108 hp.json Abnormality of the wide portion of the hand bone|Abnormalities of the metaphyses of the hand http://purl.obolibrary.org/obo/HP_0005923 HP:0005924 biolink:PhenotypicFeature Abnormal hand epiphysis morphology Any abnormality of the epiphyses of the phalanges or metacarpal bones. UMLS:C4025107 hp.json Abnormality of the epiphyses of the fingers|Abnormality of the end part of the hand bone|Abnormality of the end part of the hand bones|Abnormality of the epiphyses of the hand|Abnormality of the epiphyses of the phalanges of the hand http://purl.obolibrary.org/obo/HP_0005924 HP:0005920 biolink:PhenotypicFeature Abnormal epiphysis morphology of the phalanges of the hand Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). UMLS:C4021613 hp.json http://purl.obolibrary.org/obo/HP_0005920 UBERON:0003216 biolink:AnatomicalEntity hard palate Anterior portion of the palate consisting of bone and mucous membranes[GO]. The hard palate is formed from bony processes of the maxilla, premaxilla and palatine[Kardong]. MESH:D021362|UMLS:C0226901|NCIT:C12230|MAT:0000161|FMA:55023|EMAPA:18952|MIAA:0000161|GAID:221|MA:0002477 hp.json palatum durum|hard palate http://purl.obolibrary.org/obo/UBERON_0003216 pheno_slim|uberon_slim UBERON:0005879 biolink:AnatomicalEntity pharyngeal cleft An external pocketing of pharyngeal ectoderm that contacts a region of endoderm (a pharyngeal pouch) and interdigitates in the anterior and posterior directions by the pharyngeal arches. EMAPA:32750|FMA:295672|NCIT:C34250|AAO:0010623|UMLS:C1280559 hp.json branchial groove|pharyngeal groove|branchial cleft|pharyngeal slit|gill cleft|sulcus pharyngei|Kiemenspalten|pharyngeal ectodermal cleft|pharyngeal groove ectoderm http://purl.obolibrary.org/obo/UBERON_0005879 pheno_slim UBERON:0003214 biolink:AnatomicalEntity mammary gland alveolus A sac-like structure that is found in the mature gland[GO]. FMA:73285|EMAPA:36566|MA:0002760 hp.json mammary alveoli|alveolus of mammary gland|lactiferous alveolus|lactiferous gland alveolus|alveolus of lactiferous gland|mammary alveolus|lobe of mammary gland alveolus|alveolus of lobe of breast|lobe of breast alveolus|alveolus of lobe of mammary gland http://purl.obolibrary.org/obo/UBERON_0003214 pheno_slim UBERON:0005876 biolink:AnatomicalEntity undifferentiated genital tubercle The embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin. EHDAA2:0000705|FMA:302888|VHOG:0000583|EHDAA:5925|EMAPA:17382 hp.json phallic tubercle|tuberculum phallicum|undifferentiated genital tubercle|genital tubercle|tuberculum genitale http://purl.obolibrary.org/obo/UBERON_0005876 pheno_slim UBERON:0003215 biolink:AnatomicalEntity alveolus Organ part that has the form of a hollow cavity[WP]. EV:0100043|FMA:82493|OpenCyc:Mx4rwN8NFZwpEbGdrcN5Y29ycA|NCIT:C12986|UMLS:C0034051|EFO:0002513 hp.json http://purl.obolibrary.org/obo/UBERON_0003215 efo_slim UBERON:0005875 biolink:AnatomicalEntity 4th arch pharyngeal cleft A groove that is situated between the 4th and 5th pharyngeal arch. VHOG:0000577|EMAPA:16762|EMAPA:16761|EHDAA:1665|RETIRED_EHDAA2:0000088|VHOG:0000968|EHDAA2:0000089 hp.json 4th pharyngeal groove ectoderm|4th branchial cleft|branchial groove of 4th arch|4th pharyngeal groove|4th arch branchial groove|4th arch pharyngeal groove ectoderm|4th pharyngeal cleft http://purl.obolibrary.org/obo/UBERON_0005875 vertebrate_core UBERON:0003212 biolink:AnatomicalEntity gustatory organ Any sense organ that functions in (some) detection of chemical stimulus involved in sensory perception of taste (GO:0050912). FMA:77853|FBbt:00005159 hp.json taste organ|organ of gustatory system|organ of gustatory organ system|organ of taste system|gustatory system organ|gustatory organ system organ|taste system organ http://purl.obolibrary.org/obo/UBERON_0003212 UBERON:0005874 biolink:AnatomicalEntity 3rd arch pharyngeal cleft A groove that is situated between the 3rd and 4th pharyngeal arch. VHOG:0000973|EHDAA2:0000074|EHDAA:1082|VHOG:0000572|EMAPA:16581 hp.json 3rd pharyngeal groove|3rd branchial cleft|3rd pharyngeal cleft|3rd pharyngeal groove ectoderm|branchial groove of 3rd arch|3rd arch groove ectoderm|3rd arch branchial groove http://purl.obolibrary.org/obo/UBERON_0005874 vertebrate_core UBERON:0005873 biolink:AnatomicalEntity 2nd arch pharyngeal cleft A groove that is situated between the 2nd and 3rd pharyngeal arch. VHOG:0000972|EHDAA:613|EMAPA:16396|EHDAA2:0000057|VHOG:0000568 hp.json 2nd branchial cleft|branchial groove of 2nd arch|2nd arch branchial groove|2nd pharyngeal groove ectoderm|2nd pharyngeal cleft|2nd arch groove ectoderm|2nd pharyngeal groove http://purl.obolibrary.org/obo/UBERON_0005873 vertebrate_core UBERON:0005872 biolink:AnatomicalEntity 1st arch pharyngeal cleft A groove that is situated between the 1st and 2nd pharyngeal arch. VHOG:0000554|EMAPA:16119|EHDAA2:0000009|VHOG:0000969|EHDAA:575 hp.json branchial groove of 1st arch|1st arch groove ectoderm|1st pharyngeal cleft|1st pharyngeal groove ectoderm|1st pharyngeal groove|1st branchial cleft|1st arch branchial groove http://purl.obolibrary.org/obo/UBERON_0005872 vertebrate_core GO:0043184 biolink:MolecularActivity vascular endothelial growth factor receptor 2 binding Binding to a vascular endothelial growth factor receptor 2. hp.json VEGF receptor 2 binding|KDR binding|Flk-1 binding|VEGFR 2 binding|kinase domain region binding http://purl.obolibrary.org/obo/GO_0043184 HP:0005938 biolink:PhenotypicFeature Abnormal respiratory motile cilium morphology Abnormal arrangement of the structures of the motile cilium. UMLS:C4025100 hp.json http://purl.obolibrary.org/obo/HP_0005938 HP:0005939 biolink:PhenotypicFeature Multiple bilateral pneumothoraces UMLS:C4025099 hp.json http://purl.obolibrary.org/obo/HP_0005939 HP:0005932 biolink:PhenotypicFeature Abnormal renal corticomedullary differentiation An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. UMLS:C4025102 hp.json http://purl.obolibrary.org/obo/HP_0005932 HP:0030900 biolink:PhenotypicFeature Pruritus on foot Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot. hp.json Itchy foot|Itchy feet http://purl.obolibrary.org/obo/HP_0030900 HP:0005934 biolink:PhenotypicFeature Imperfect vocal cord adduction UMLS:C4025101 hp.json http://purl.obolibrary.org/obo/HP_0005934 HP:0030901 biolink:PhenotypicFeature Pruritis on breast Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast. hp.json http://purl.obolibrary.org/obo/HP_0030901 HP:0030902 biolink:PhenotypicFeature Palmomental reflex A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm. hp.json http://purl.obolibrary.org/obo/HP_0030902 HP:0005930 biolink:PhenotypicFeature Abnormal epiphysis morphology An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. UMLS:C4021611 hp.json Epiphyseal abnormality|Anomaly of the epiphyses|Abnormality of epiphysis morphology|Abnormal shape of end part of bone|Abnormality of the epiphyses http://purl.obolibrary.org/obo/HP_0005930 UBERON:0005868 biolink:AnatomicalEntity maxillary prominence The paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw. FMA:293049|UMLS:C1513037|EMAPA:17359|EHDAA2:0001070|NCIT:C34206|EHDAA:5877 hp.json maxillary process of embryo|maxillary process|prominentia maxilaris|embryonic maxillary process http://purl.obolibrary.org/obo/UBERON_0005868 pheno_slim HP:0030907 biolink:PhenotypicFeature Thunderclap headache Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days. hp.json http://purl.obolibrary.org/obo/HP_0030907 UBERON:0005867 biolink:AnatomicalEntity mandibular prominence The paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip. UMLS:C1512982|EHDAA:5871|Wikipedia:Mandibular_prominence|EHDAA2:0001061|FMA:293051|EMAPA:17355|NCIT:C34204 hp.json mandibular swelling|prominentia mandibularis|mandibular process|mandibular swelling|prominentia mandibularis|mandibular process http://purl.obolibrary.org/obo/UBERON_0005867 pheno_slim HP:0030908 biolink:PhenotypicFeature Liver kidney microsome type 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2). hp.json Anti-LKM-1 positive|Anti-LKM1 antibody positivity|Anti-liver kidney microsomal type 1 antibody positivity|Anti-type I liver-kidney microsomal antibody positivity http://purl.obolibrary.org/obo/HP_0030908 UBERON:0005866 biolink:AnatomicalEntity pre-cartilage condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. EHDAA2:0003150|AEO:0000150|EMAPA:32736 hp.json pre-chondrogenic condensation|precartilagenous condensation|precartilage condensation|prechondrogenic condensation http://purl.obolibrary.org/obo/UBERON_0005866 HP:0030909 biolink:PhenotypicFeature Anti-liver cytosolic antigen type 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. hp.json Anti-liver cytosol antibody-1 positivity http://purl.obolibrary.org/obo/HP_0030909 UBERON:0005865 biolink:AnatomicalEntity pre-muscle condensation AEO:0000149|EHDAA2_RETIRED:0003149 hp.json pre muscle mass|premuscle mass http://purl.obolibrary.org/obo/UBERON_0005865 HP:0030903 biolink:PhenotypicFeature Grasp reflex A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]. hp.json Palmar grasp reflex http://purl.obolibrary.org/obo/HP_0030903 UBERON:0005863 biolink:AnatomicalEntity cartilaginous condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. EMAPA:32731|AEO:0000147|EHDAA2_RETIRED:0003147|VSAO:0000092|XAO:0004022 hp.json chondrogenic condensation|cartilage condensation|cartilagenous condensation http://purl.obolibrary.org/obo/UBERON_0005863 HP:0030904 biolink:PhenotypicFeature Glabellar reflex A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. hp.json Myerson's sign http://purl.obolibrary.org/obo/HP_0030904 HP:0030905 biolink:PhenotypicFeature Snout reflex A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout. hp.json http://purl.obolibrary.org/obo/HP_0030905 HP:0030906 biolink:PhenotypicFeature Suck reflex A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched. hp.json Persistent nutritive suckle swallow http://purl.obolibrary.org/obo/HP_0030906 GO:0080135 biolink:BiologicalProcess regulation of cellular response to stress Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). hp.json http://purl.obolibrary.org/obo/GO_0080135 GO:0043199 biolink:MolecularActivity sulfate binding Binding to sulfate, SO4(2-), a negatively charged small molecule. hp.json http://purl.obolibrary.org/obo/GO_0043199 HP:0005905 biolink:PhenotypicFeature Abnormal cervical curvature The presence of an abnormal curvature of the cervical vertebral column. UMLS:C3151523 hp.json Abnormal neck curve http://purl.obolibrary.org/obo/HP_0005905 OBO:uberon/core#trunk_part_of biolink:NamedThing trunk_part_of hp.json http://purl.obolibrary.org/obo/uberon/core#trunk_part_of GO:0080134 biolink:BiologicalProcess regulation of response to stress Any process that modulates the frequency, rate or extent of a response to stress. Response to stress is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). hp.json http://purl.obolibrary.org/obo/GO_0080134 gocheck_do_not_manually_annotate HP:0005906 biolink:PhenotypicFeature Delayed pneumatization of the mastoid process An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. UMLS:C4021617 hp.json Mastoid processes poorly pneumatized http://purl.obolibrary.org/obo/HP_0005906 hposlim_core HP:0030911 biolink:PhenotypicFeature Bifid clitoris Two clitorides located side by side. hp.json http://purl.obolibrary.org/obo/HP_0030911 HP:0005900 biolink:PhenotypicFeature Fifth metacarpal with ulnar notch Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). UMLS:C3276324 hp.json Fifth metacarpal notched on ulnar side http://purl.obolibrary.org/obo/HP_0005900 HP:0030912 biolink:PhenotypicFeature Duplicated clitoris Supernumerary clitoris. hp.json http://purl.obolibrary.org/obo/HP_0030912 HP:0005901 biolink:PhenotypicFeature obsolete Chronic recurrent multifocal osteomyelitis hp.json http://purl.obolibrary.org/obo/HP_0005901 HP:0030913 biolink:PhenotypicFeature Exaggerated rugosity of the labia majora Marked rugae formation of the skin of the labia majora. hp.json Scrotum-like labia majora http://purl.obolibrary.org/obo/HP_0030913 HP:0030918 biolink:PhenotypicFeature Low 1-minute APGAR score hp.json Low one-minute APGAR score http://purl.obolibrary.org/obo/HP_0030918 UBERON:0005856 biolink:AnatomicalEntity developing mesenchymal condensation A delimited region of dense mesenchyme within looser mesenchyme. AEO:0000148|EHDAA2_RETIRED:0003148|EHDAA:8979 hp.json mesenchyme condensation http://purl.obolibrary.org/obo/UBERON_0005856 HP:0030919 biolink:PhenotypicFeature Low 5-minute APGAR score hp.json Low five-minute APGAR score http://purl.obolibrary.org/obo/HP_0030919 UBERON:0005855 biolink:AnatomicalEntity lumbar spinal cord ventral column A subdivision of spinal cord ventral column that is part of a lumbar spinal cord. BIRNLEX:840 hp.json http://purl.obolibrary.org/obo/UBERON_0005855 UBERON:0005854 biolink:AnatomicalEntity cervical spinal cord ventral column A subdivision of spinal cord ventral column that is part of a cervical spinal cord. UMLS:C1278746|UMLS:C0228619|BIRNLEX:1660 hp.json cervical spinal cord anterior column http://purl.obolibrary.org/obo/UBERON_0005854 UBERON:0005853 biolink:AnatomicalEntity sacral spinal cord ventral column A subdivision of spinal cord ventral column that is part of a sacral spinal cord. BIRNLEX:1520 hp.json http://purl.obolibrary.org/obo/UBERON_0005853 HP:0030914 biolink:PhenotypicFeature Abnormal peristalsis An anomaly of the wave-like muscle contractions of the digestive tract. hp.json http://purl.obolibrary.org/obo/HP_0030914 UBERON:0005852 biolink:AnatomicalEntity thoracic spinal cord ventral column A subdivision of spinal cord ventral column that is part of a thoracic spinal cord. UMLS:C1288556|BIRNLEX:1448|UMLS:C0228636 hp.json http://purl.obolibrary.org/obo/UBERON_0005852 HP:0030915 biolink:PhenotypicFeature Cerebellar edema Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. hp.json Oedema of the cerebellum|Cerebellar oedema|Edema of the cerebellum http://purl.obolibrary.org/obo/HP_0030915 HP:0030917 biolink:PhenotypicFeature Low APGAR score hp.json http://purl.obolibrary.org/obo/HP_0030917 CHEBI:46883 biolink:ChemicalSubstance carboxy group PDBeChem:FMT hp.json carboxy|-COOH|-CO2H|carboxyl group|CARBOXY GROUP|-C(O)OH http://purl.obolibrary.org/obo/CHEBI_46883 3_STAR UBERON:0005838 biolink:AnatomicalEntity fasciculus of brain A fascicle that is part of a brain. FMA:83844 hp.json brain fasciculus http://purl.obolibrary.org/obo/UBERON_0005838 UBERON:0005837 biolink:AnatomicalEntity fasciculus of spinal cord A fascicle that is part of a spinal cord. FMA:75799 hp.json spinal cord fasciculus http://purl.obolibrary.org/obo/UBERON_0005837 HP:0005918 biolink:PhenotypicFeature Abnormal finger phalanx morphology Abnormalities affecting the phalanx of finger. UMLS:C4021614 hp.json Abnormality of the phalanges|Abnormal form of phalanges of the hand|Abnormality of the finger bones|Abnormality of the phalanges of the hand|Abnormality of phalanx of finger http://purl.obolibrary.org/obo/HP_0005918 HP:0005914 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the metacarpal bones Aplasia or Hypoplasia affecting the metacarpal bones. UMLS:C1836192 hp.json Hypoplastic/absent metacarpal bones|Absent/underdeveloped long bones of hand|Metacarpal aplasia/hypoplasia|Absent or hypoplastic metacarpals|Hypoplastic/absent metacarpals|Absent/small long bones of hand|Hypoplastic metacarpals|Aplastic/hypoplastic metacarpals http://purl.obolibrary.org/obo/HP_0005914 HP:0005916 biolink:PhenotypicFeature Abnormal metacarpal morphology Irregularly shaped metacarpal bones of varying degree. UMLS:C4021615 hp.json Abnormal shape of long bones of hand|Abnormal shape of metacarpal bones http://purl.obolibrary.org/obo/HP_0005916 HP:0005917 biolink:PhenotypicFeature Supernumerary metacarpal bones The presence of more than the normal number of metacarpal bones. UMLS:C0545617|SNOMEDCT_US:91846008 hp.json Extra long bones of hand http://purl.obolibrary.org/obo/HP_0005917 HP:0030921 biolink:PhenotypicFeature 5-minute APGAR score of 1 hp.json http://purl.obolibrary.org/obo/HP_0030921 HP:0005910 biolink:PhenotypicFeature Rhomboid or triangular shaped 5th finger middle phalanx Rhomboid or triangular shaped 5th (little) finger middle phalanx. UMLS:C4021616 hp.json Rhomboid or triangular shaped fifth finger middle phalanx http://purl.obolibrary.org/obo/HP_0005910 HP:0030922 biolink:PhenotypicFeature 5-minute APGAR score of 2 hp.json http://purl.obolibrary.org/obo/HP_0030922 HP:0030923 biolink:PhenotypicFeature 5-minute APGAR score of 3 hp.json http://purl.obolibrary.org/obo/HP_0030923 HP:0005912 biolink:PhenotypicFeature Biliary atresia Atresia of the biliary tree. MSH:D001656|SNOMEDCT_US:82821008|SNOMEDCT_US:77480004|UMLS:C0005411 hp.json Biliary duct atresia http://purl.obolibrary.org/obo/HP_0005912 HP:0030924 biolink:PhenotypicFeature 5-minute APGAR score of 4 hp.json http://purl.obolibrary.org/obo/HP_0030924 HP:0005913 biolink:PhenotypicFeature Abnormal metacarpal epiphysis morphology UMLS:C4025110 hp.json Abnormality of end part of long bone of hand|Abnormality of metacarpal epiphyses http://purl.obolibrary.org/obo/HP_0005913 HP:0030920 biolink:PhenotypicFeature 5-minute APGAR score of 0 hp.json http://purl.obolibrary.org/obo/HP_0030920 HP:0030929 biolink:PhenotypicFeature 1-minute APGAR score of 2 hp.json http://purl.obolibrary.org/obo/HP_0030929 UBERON:0005845 biolink:AnatomicalEntity caudal segment of spinal cord A spinal cord segment that adjacent_to a caudal region. FMA:256635|MA:0003084 hp.json coccygeal segments of spinal cord [1-3]|coccygeal segment of spinal cord|segmenta coccygea medullae spinalis [1-3]|segmenta coccygea|pars coccygea medullae spinalis http://purl.obolibrary.org/obo/UBERON_0005845 UBERON:0005844 biolink:AnatomicalEntity spinal cord segment FMA:62420|BIRNLEX:2665|MA:0003080|SCTID:278748001 hp.json axial regional part of spinal cord|spinal neuromeres|axial part of spinal cord|segment of spinal cord http://purl.obolibrary.org/obo/UBERON_0005844 UBERON:0005843 biolink:AnatomicalEntity sacral spinal cord A spinal cord segment that adjacent_to a sacral region. NCIT:C12896|UMLS:C0581669|UMLS:C0581669|MA:0003085|FMA:256623|UMLS:C1280196|BIRNLEX:1275 hp.json sacral segment of spinal cord|segmenta sacralia medullae spinalis [1-5]|pars sacralis medullae spinalis|sacral segments of spinal cord [1-5] http://purl.obolibrary.org/obo/UBERON_0005843 HP:0030925 biolink:PhenotypicFeature 5-minute APGAR score of 5 hp.json http://purl.obolibrary.org/obo/HP_0030925 HP:0030926 biolink:PhenotypicFeature 5-minute APGAR score of 6 hp.json http://purl.obolibrary.org/obo/HP_0030926 HP:0030927 biolink:PhenotypicFeature 1-minute APGAR score of 0 hp.json http://purl.obolibrary.org/obo/HP_0030927 HP:0030928 biolink:PhenotypicFeature 1-minute APGAR score of 1 hp.json http://purl.obolibrary.org/obo/HP_0030928 UBERON:0015238 biolink:AnatomicalEntity pineal complex A cluster in the epithalamus that consists of the pineal body and any associated structures, such as the parapineal gland or the parietal organ. The complex is poorly developed in mammals. ZFA:0001359|TAO:0001359 hp.json http://purl.obolibrary.org/obo/UBERON_0015238 HP:0003309 biolink:PhenotypicFeature Ovoid thoracolumbar vertebrae UMLS:C1868556 hp.json Ovoid thoracic and lumbar vertebrae http://purl.obolibrary.org/obo/HP_0003309 HP:0003308 biolink:PhenotypicFeature Cervical subluxation A partial dislocation of one or more intervertebral joints in the cervical vertebral column. UMLS:C1846798 hp.json http://purl.obolibrary.org/obo/HP_0003308 HP:0003307 biolink:PhenotypicFeature Hyperlordosis Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. UMLS:C0024003|SNOMEDCT_US:249710008|MSH:D008141|SNOMEDCT_US:61960001 hp.json Prominent swayback|Lordosis http://purl.obolibrary.org/obo/HP_0003307 hposlim_core UBERON:0015233 biolink:AnatomicalEntity nucleus of dorsal thalamus A nucleus of brain that is part of a dorsal thalamus. hp.json dorsal thalamic nucleus|nucleus of thalamus proper http://purl.obolibrary.org/obo/UBERON_0015233 GO:0080154 biolink:BiologicalProcess regulation of fertilization Any process that modulates the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). hp.json http://purl.obolibrary.org/obo/GO_0080154 HP:0003302 biolink:PhenotypicFeature Spondylolisthesis Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. UMLS:C0038016|SNOMEDCT_US:274152003|MSH:D013168 hp.json Spondylolithesis|Slipped backbone|Displacement of one backbone compared to another http://purl.obolibrary.org/obo/HP_0003302 UBERON:0003252 biolink:AnatomicalEntity thoracic rib cage Subdivision of skeletal system that consists of all ribs in an organism connected to the sternum and the vertebrae. Some vertebrates have abdominal ribs (gastrialia), not connected to the vertebrate - these are not considered part of the rib case. galen:RibCage|FMA:7480 hp.json rib cage|cavea thoracis|thoracic cage|cavea thoracis http://purl.obolibrary.org/obo/UBERON_0003252 pheno_slim UBERON:0003253 biolink:AnatomicalEntity neck of rib The neck of the rib is the flattened portion which extends lateralward from the head; it is about 2.5 cm. long, and is placed in front of the transverse process of the lower of the two vertebrC& with which the head articulates. Its anterior surface is flat and smooth, its posterior rough for the attachment of the ligament of the neck, and perforated by numerous foramina. Of its two borders the superior presents a rough crest (crista colli costE) for the attachment of the anterior costotransverse ligament; its inferior border is rounded. On the posterior surface at the junction of the neck and body, and nearer the lower than the upper border, is an eminencebthe tubercle; it consists of an articular and a non-articular portion. The articular portion, the lower and more medial of the two, presents a small, oval surface for articulation with the end of the transverse process of the lower of the two vertebrC& to which the head is connected. The non-articular portion is a rough elevation, and affords attachment to the ligament of the tubercle. The tubercle is much more prominent in the upper than in the lower ribs. EMAPA:37826|FMA:7576 hp.json rib neck|collum costae|collum costae http://purl.obolibrary.org/obo/UBERON_0003253 HP:0003301 biolink:PhenotypicFeature Irregular vertebral endplates An irregular surface of the vertebral end plates, which are normally relatively smooth. UMLS:C1842153 hp.json irregular vertebral plates|Irregular endplates|end-plate irregularities|endplate irregularity|vertebral endplate irregularity|Irregular end plates|endplate irregularities http://purl.obolibrary.org/obo/HP_0003301 hposlim_core HP:0003300 biolink:PhenotypicFeature Ovoid vertebral bodies When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. UMLS:C1855665|UMLS:C4020844 hp.json Ovoid vertebrae|Ovoid-shaped vertebral bodies|Oval vertebral bodies|Bullet vertebral body http://purl.obolibrary.org/obo/HP_0003300 HP:0005967 biolink:PhenotypicFeature Mixed respiratory and metabolic acidosis UMLS:C1840372 hp.json http://purl.obolibrary.org/obo/HP_0005967 HP:0005968 biolink:PhenotypicFeature Temperature instability Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. UMLS:C3279038|UMLS:C1820737 hp.json Body temperature instability|Temperature instability http://purl.obolibrary.org/obo/HP_0005968 HP:0003306 biolink:PhenotypicFeature Spinal rigidity Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. UMLS:C1858025 hp.json Rigid spine|Reduced spine movement http://purl.obolibrary.org/obo/HP_0003306 HP:0005961 biolink:PhenotypicFeature Hypoargininemia A decreased concentration of arginine in the blood. UMLS:C1859735|UMLS:C4025095 hp.json Low blood arginine levels|Arginine deficiency http://purl.obolibrary.org/obo/HP_0005961 HP:0003305 biolink:PhenotypicFeature Block vertebrae Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). UMLS:C1844753 hp.json http://purl.obolibrary.org/obo/HP_0003305 HP:0003304 biolink:PhenotypicFeature Spondylolysis Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. UMLS:C0038018|SNOMEDCT_US:240221008|MSH:D013169 hp.json http://purl.obolibrary.org/obo/HP_0003304 hposlim_core HP:0005964 biolink:PhenotypicFeature Intermittent hypothermia Episodes of reduced body termperature. UMLS:C1837639 hp.json Intermittent abnormally low body temperature|Intermittent hypothermia http://purl.obolibrary.org/obo/HP_0005964 UBERON:0003258 biolink:AnatomicalEntity endoderm of foregut An endoderm that is part of a foregut [Automatically generated definition]. EHDAA:524|EHDAA2:0004568 hp.json foregut endoderm http://purl.obolibrary.org/obo/UBERON_0003258 UBERON:0003259 biolink:AnatomicalEntity endoderm of midgut An endoderm that is part of a midgut [Automatically generated definition]. EHDAA:987|EMAPA:16257|RETIRED_EHDAA2:0001194|VHOG:0001080 hp.json midgut endoderm http://purl.obolibrary.org/obo/UBERON_0003259 UBERON:0003257 biolink:AnatomicalEntity yolk sac endoderm The portion of the yolk sac that is derived from endoderm and lines the yolk sac. EHDAA2:0002215|VHOG:0000626|EMAPA:16086|EHDAA:166 hp.json http://purl.obolibrary.org/obo/UBERON_0003257 UBERON:0003254 biolink:AnatomicalEntity amniotic ectoderm EHDAA2:0000117|EHDAA:138|EMAPA:16110|BTO:0000897|VHOG:0000621 hp.json amnion ectoderm|amnionic ectoderm|amnionic ectoderm|amnion epithelium|amnion ectoderm http://purl.obolibrary.org/obo/UBERON_0003254 HP:0003319 biolink:PhenotypicFeature Abnormality of the cervical spine Any abnormality of the cervical vertebral column. UMLS:C1852464 hp.json Cervical vertebral abnormalities|Abnormality of the cervical vertebrae|Abnormal cervical spine|Disorder of cervical vertebra|Cervical vertebral anomalies|Cervical spine abnormalities|Abnormality of cervical vertebra http://purl.obolibrary.org/obo/HP_0003319 UBERON:0015228 biolink:AnatomicalEntity circulatory organ A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. SPD:0000130 hp.json circulatory vessel|heart or heart like organ|cardiac pump|heart|cardiac structure http://purl.obolibrary.org/obo/UBERON_0015228 grouping_class HP:0003318 biolink:PhenotypicFeature Cervical spine hypermobility SNOMEDCT_US:298186005|UMLS:C0574967 hp.json Cervical spine joint hypermobility http://purl.obolibrary.org/obo/HP_0003318 GO:0080144 biolink:BiologicalProcess amino acid homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0080144 HP:0005976 biolink:PhenotypicFeature Hyperkalemic metabolic acidosis UMLS:C1865880 hp.json http://purl.obolibrary.org/obo/HP_0005976 HP:0005977 biolink:PhenotypicFeature Hypochloremic metabolic alkalosis UMLS:C0740895 hp.json http://purl.obolibrary.org/obo/HP_0005977 HP:0003312 biolink:PhenotypicFeature Abnormal form of the vertebral bodies Abnormal morphology of vertebral body. UMLS:C1839326 hp.json Abnormally shaped vertebrae http://purl.obolibrary.org/obo/HP_0003312 HP:0003311 biolink:PhenotypicFeature Hypoplasia of the odontoid process Developmental hypoplasia of the dens of the axis. UMLS:C1846439 hp.json Hypoplastic odontoid process|Small odontoid process|Small odontoid peg|Odontoid hypoplasia http://purl.obolibrary.org/obo/HP_0003311 hposlim_core HP:0005978 biolink:PhenotypicFeature Type II diabetes mellitus A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. UMLS:C0011860|MSH:D003924|SNOMEDCT_US:44054006 hp.json Noninsulin dependent diabetes mellitus|Non-insulin dependent diabetes|Noninsulin-dependent diabetes|Diabetes mellitus type 2|Noninsulin-dependent diabetes mellitus|NIDDM|Diabetes mellitus Type II|Type II diabetes|Diabetes mellitus, noninsulin-dependent|NIDDM diabetes mellitus|Type 2 diabetes http://purl.obolibrary.org/obo/HP_0005978 HP:0005979 biolink:PhenotypicFeature Metabolic ketoacidosis A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. MSH:D007662|UMLS:C1854704 hp.json Starvation ketoacidosis http://purl.obolibrary.org/obo/HP_0005979 HP:0003310 biolink:PhenotypicFeature Abnormality of the odontoid process Abnormality of the dens of the axis, which is also known as the odontoid process. UMLS:C1864794 hp.json Abnormal odontoid peg|Abnormal odontoid process http://purl.obolibrary.org/obo/HP_0003310 HP:0005972 biolink:PhenotypicFeature Respiratory acidosis Acidosis because of respiratory retention of carbon dioxide. SNOMEDCT_US:12326000|UMLS:C0001127|MSH:D000142 hp.json http://purl.obolibrary.org/obo/HP_0005972 HP:0005973 biolink:PhenotypicFeature Fructose intolerance Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance. UMLS:C0016751|SNOMEDCT_US:20052008|MSH:D005633 hp.json Fructose malabsorption http://purl.obolibrary.org/obo/HP_0005973 HP:0003316 biolink:PhenotypicFeature Butterfly vertebrae A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. UMLS:C1844752 hp.json Sagittal clefting of vertebrae|Butterfly vertebrae|Anterior rachischisis http://purl.obolibrary.org/obo/HP_0003316 HP:0005974 biolink:PhenotypicFeature Episodic ketoacidosis Intermittent episodes of ketoacidosis. UMLS:C1859860 hp.json Ketoacidosis, episodic http://purl.obolibrary.org/obo/HP_0005974 UBERON:0003249 biolink:AnatomicalEntity epithelium of otic placode An epithelium that is part of a otic placode [Automatically generated definition]. EHDAA:510|EMAPA:16197|VHOG:0000636|ZFA:0007068|EHDAA2:0001341 hp.json epithelial tissue of otic placode|otic epithelium|otic placode epithelial tissue|otic placode epithelium http://purl.obolibrary.org/obo/UBERON_0003249 UBERON:0003247 biolink:AnatomicalEntity epithelium of forearm An epithelium that is part of a lower arm [Automatically generated definition]. EHDAA:4174|EHDAA:6220|VHOG:0001096|EHDAA2:0000554|EMAPA:17418 hp.json forearm epithelium http://purl.obolibrary.org/obo/UBERON_0003247 UBERON:0003248 biolink:AnatomicalEntity epithelium of footplate An epithelium that is part of a footplate. EHDAA2:0000548|EMAPA:32655|EHDAA:5145|EHDAA:6144 hp.json foot plate epithelium|footplate epithelium http://purl.obolibrary.org/obo/UBERON_0003248 UBERON:0003243 biolink:AnatomicalEntity epithelium of cochlear duct An epithelium that is part of a cochlear duct of membranous labyrinth [Automatically generated definition]. EMAPA:17600|RETIRED_EHDAA2:0000264|EHDAA:4722|VHOG:0000640 hp.json cochlear duct epithelial tissue|cochlear duct epithelium|epithelial tissue of Reissner's canal|cochlear duct of membranous labyrinth epithelium|epithelium of Reissner's canal|Reissner's canal epithelium|epithelium of cochlear duct of membranous labyrinth|epithelial tissue of cochlear duct of membranous labyrinth|Reissner's canal epithelial tissue|epithelial tissue of cochlear duct|cochlear duct of membranous labyrinth epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003243 UBERON:0003244 biolink:AnatomicalEntity epithelium of mammary gland The epithelial layer of the luminal surfaces of the mammary gland. UMLS:C0596882|VHOG:0001088|CALOHA:TS-0593|EHDAA:6526|EMAPA:17760|MA:0000792|FMA:74445|EHDAA2:0001057|NCIT:C12937|BTO:0001430 hp.json mammary gland epithelium|lactiferous gland epithelium|mammary epithelium|mammary gland epithelial tissue|epithelium of lactiferous gland http://purl.obolibrary.org/obo/UBERON_0003244 pheno_slim CHEBI:22881 biolink:ChemicalSubstance biopterins MetaCyc:All-Biopterines hp.json http://purl.obolibrary.org/obo/CHEBI_22881 3_STAR UBERON:7500033 biolink:AnatomicalEntity distal-most point of medial condyle of femur The distal-most point of the medial condyle of a femur. hp.json http://purl.obolibrary.org/obo/UBERON_7500033 UBERON:0003229 biolink:AnatomicalEntity epithelium of elbow An epithelium that is part of a elbow [Automatically generated definition]. EHDAA2:0000430|EHDAA:4168|EHDAA:6214|EMAPA:17415|VHOG:0001044 hp.json cubital region epithelial tissue|elbow epithelium|epithelial tissue of cubital region|epithelial tissue of elbow|epithelium of cubital region|elbow epithelial tissue|cubital region epithelium http://purl.obolibrary.org/obo/UBERON_0003229 UBERON:0015212 biolink:AnatomicalEntity lateral structure Any structure that is placed on one side of the left-right axis of a bilaterian. hp.json http://purl.obolibrary.org/obo/UBERON_0015212 non_informative|grouping_class HP:0005947 biolink:PhenotypicFeature Decreased sensitivity to hypoxemia Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. UMLS:C3806286 hp.json Decreased sensitivity to hypoxaemia|Decreased sensitivity to hypoxemia http://purl.obolibrary.org/obo/HP_0005947 HP:0005948 biolink:PhenotypicFeature Multiple pulmonary cysts The presence of multiple lung cysts. MSH:C563237|UMLS:C1384901 hp.json Multiple lung cysts|Cystic lung disease http://purl.obolibrary.org/obo/HP_0005948 HP:0005949 biolink:PhenotypicFeature Apneic episodes in infancy Recurrent episodes of apnea occurring during infancy. UMLS:C3807980 hp.json http://purl.obolibrary.org/obo/HP_0005949 UBERON:0015214 biolink:AnatomicalEntity arcuate ligament A ligament that is part of a diaphragm. EMAPA:19236|FMA:58280 hp.json http://purl.obolibrary.org/obo/UBERON_0015214 HP:0005943 biolink:PhenotypicFeature Respiratory arrest UMLS:C0162297|SNOMEDCT_US:87317003 hp.json Breathing cessation http://purl.obolibrary.org/obo/HP_0005943 UBERON:0003230 biolink:AnatomicalEntity epithelium of carpal region An epithelium that is part of a wrist [Automatically generated definition]. EHDAA2:0000219|EHDAA:5198 hp.json epithelium of wrist|epithelial tissue of wrist|carpal region epithelium|epithelial tissue of carpal region|wrist epithelial tissue|wrist epithelium|carpal region epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003230 GO:0080171 biolink:BiologicalProcess lytic vacuole organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lytic vacuole. hp.json lytic vacuolar assembly|lytic vacuole biogenesis|lytic vacuole organisation|lytic vacuole organization and biogenesis http://purl.obolibrary.org/obo/GO_0080171 UBERON:0005893 biolink:AnatomicalEntity leg bone A bone that is part of the region of the hindlimb that includes the zeugopod and stylopod. Examples: patella, femur, tibia. Counter-examples: any pes phalanx. MA:0000670|EMAPA:37304|MESH:D007867 hp.json http://purl.obolibrary.org/obo/UBERON_0005893 grouping_class UBERON:0003231 biolink:AnatomicalEntity epithelium of hip An epithelium that is part of a hip [Automatically generated definition]. EHDAA:6180|EHDAA2:0000784|VHOG:0000779|EMAPA:17491|EHDAA:5155 hp.json hip region epithelium|hip region epithelial tissue|regio coxae epithelium|epithelial tissue of hip|epithelium of regio coxae|hip epithelial tissue|hip epithelium|epithelial tissue of hip region|epithelial tissue of regio coxae|epithelium of hip region|regio coxae epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003231 HP:0005944 biolink:PhenotypicFeature Bilateral lung agenesis Bilateral lack of development of the lungs. Fyler:4206|UMLS:C4021610 hp.json Bilateral pulmonary agenesis|Absent lungs http://purl.obolibrary.org/obo/HP_0005944 HP:0005945 biolink:PhenotypicFeature Laryngeal obstruction Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress. SNOMEDCT_US:61169001|UMLS:C0264306 hp.json http://purl.obolibrary.org/obo/HP_0005945 UBERON:0005891 biolink:AnatomicalEntity coelomic epithelium The epithelial lining of the surface of the coelom. XAO:0000329 hp.json germinal epithelium of Waldeyer|celomic epithelium http://purl.obolibrary.org/obo/UBERON_0005891 HP:0005946 biolink:PhenotypicFeature Ventilator dependence with inability to wean UMLS:C4025097 hp.json http://purl.obolibrary.org/obo/HP_0005946 HP:0005941 biolink:PhenotypicFeature Intermittent hyperpnea at rest UMLS:C4025098 hp.json http://purl.obolibrary.org/obo/HP_0005941 HP:0005942 biolink:PhenotypicFeature Desquamative interstitial pneumonitis Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. MSH:C562470|UMLS:C0238378|SNOMEDCT_US:8549006 hp.json Intra-alveolar accumulation of macrophages|Filling of the alveoli with desquamated epithelial cells|Filling of the alveoli with alveolar macrophages http://purl.obolibrary.org/obo/HP_0005942 UBERON:0003236 biolink:AnatomicalEntity epithelium of lower jaw An epithelium that is part of a lower jaw [Automatically generated definition]. EHDAA2:0001019|EHDAA:7999|VHOG:0000802|EMAPA:35516 hp.json ventral mandibular arch epithelium|epithelium of ventral mandibular arch|epithelial tissue of ventral mandibular arch|epithelial tissue of lower jaw|ventral mandibular arch epithelial tissue|lower jaw epithelial tissue|lower jaw epithelium http://purl.obolibrary.org/obo/UBERON_0003236 UBERON:0005899 biolink:AnatomicalEntity pes bone A bone that is part of the pes skeleton. EMAPA:35354|MA:0000643|OpenCyc:Mx4rv5ridZwpEbGdrcN5Y29ycA|MESH:D005529|UMLS:C0016505|NCIT:C13068|GAID:192 hp.json bone of pes|bone of pedal skeleton|bone of foor proper or tarsal skeleton|bone of foot|foot bone http://purl.obolibrary.org/obo/UBERON_0005899 UBERON:0005897 biolink:AnatomicalEntity manus bone A bone that is part of the manus skeleton. Note that this includes the carpal bones. EMAPA:35391|MA:0000619 hp.json bone of hand skeleton|forelimb autopod bone|hand bone|bone of hand|bone of manus|bone of pectoral limb autopodium|forelimb autopodium bone|bone of pectoral limb autopod http://purl.obolibrary.org/obo/UBERON_0005897 UBERON:0003235 biolink:AnatomicalEntity epithelium of upper jaw An epithelium that is part of a upper jaw [Automatically generated definition]. EMAPA:17943|EHDAA2:0002119|EMAPA:18971|EHDAA:8027 hp.json epithelial tissue of upper jaw|epithelium of palatoquadrate arch|upper jaw epithelial tissue|epithelial tissue of palatoquadrate arch|palatoquadrate arch epithelium|palatoquadrate arch epithelial tissue|upper jaw epithelium http://purl.obolibrary.org/obo/UBERON_0003235 UBERON:0003232 biolink:AnatomicalEntity epithelium of knee An epithelium that is part of a knee [Automatically generated definition]. EHDAA:6186|EHDAA:5161|EHDAA2:0000896|EMAPA:17494|VHOG:0000810 hp.json knee epithelial tissue|epithelial tissue of knee|knee epithelium http://purl.obolibrary.org/obo/UBERON_0003232 UBERON:0003233 biolink:AnatomicalEntity epithelium of shoulder An epithelium that is part of a shoulder [Automatically generated definition]. EHDAA:6230|VHOG:0000761|EHDAA2:0001835|EHDAA:4182|EMAPA:17422 hp.json epithelial tissue of shoulder|shoulder epithelial tissue|shoulder epithelium http://purl.obolibrary.org/obo/UBERON_0003233 CHEBI:46842 biolink:ChemicalSubstance sarcosinium An alpha-amino-acid cation that is the conjugate acid of sarcosine, arising from protonation of the amino group. Gmelin:323778 hp.json carboxy-N-methylmethanaminium http://purl.obolibrary.org/obo/CHEBI_46842 3_STAR UBERON:0003218 biolink:AnatomicalEntity ovary septum Septum that divides the ovary, the basal portion of a carpel or group of fused carpels, that encloses the ovule(s)[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0003218 HP:0005959 biolink:PhenotypicFeature Impaired gluconeogenesis An impairment of gluconeogenesis. UMLS:C3279336 hp.json Gluconeogenesis impaired http://purl.obolibrary.org/obo/HP_0005959 HP:0005954 biolink:PhenotypicFeature Pulmonary capillary hemangiomatosis SNOMEDCT_US:233949008|UMLS:C0340548 hp.json Pulmonary hemangiomas http://purl.obolibrary.org/obo/HP_0005954 UBERON:0003220 biolink:AnatomicalEntity metanephric mesenchyme One of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]. EHDAA:5021|EHDAA:4041|EHDAA:5915|VHOG:0000540|EHDAA2:0004062|EMAPA:17375 hp.json metanephros associated mesenchyme|metanephrogenic mesenchyme|metanephric blastema|metanephric mesoderm http://purl.obolibrary.org/obo/UBERON_0003220 pheno_slim UBERON:0005881 biolink:AnatomicalEntity autopodial extension A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. hp.json limb outgrowth|digit or predigit http://purl.obolibrary.org/obo/UBERON_0005881 HP:0005956 biolink:PhenotypicFeature Anteroposteriorly shortened larynx Abnormal shortening of the larynx in the anteroposterior (front to back) axis. UMLS:C3805994 hp.json http://purl.obolibrary.org/obo/HP_0005956 HP:0005957 biolink:PhenotypicFeature Breathing dysregulation UMLS:C3808046 hp.json http://purl.obolibrary.org/obo/HP_0005957 HP:0005950 biolink:PhenotypicFeature Laryngeal web A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. SNOMEDCT_US:297159008|UMLS:C0281890 hp.json Laryngeal webs|Partial laryngeal atresia http://purl.obolibrary.org/obo/HP_0005950 HP:0005951 biolink:PhenotypicFeature Progressive inspiratory stridor UMLS:C4025096 hp.json http://purl.obolibrary.org/obo/HP_0005951 HP:0005952 biolink:PhenotypicFeature obsolete Decreased pulmonary function hp.json http://purl.obolibrary.org/obo/HP_0005952 UBERON:0003221 biolink:AnatomicalEntity phalanx Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits. UMLS:C0222682|VSAO:0000199|MA:0000304|NCIT:C33317|FMA:321661|CALOHA:TS-2211|EMAPA:32614|galen:Phalanx|OpenCyc:Mx4rvolPZpwpEbGdrcN5Y29ycA hp.json digit long bone|phalanx bone|phalange|phalanges|long bone of digit http://purl.obolibrary.org/obo/UBERON_0003221 pheno_slim UBERON:0005884 biolink:AnatomicalEntity hyoid arch skeleton A subdivision of skeleton that supports pharyngeal arch 2. AAO:0010370|ZFA:0001276|AAO:0000665|XAO:0003177|TAO:0001276 hp.json pharyngeal arch 2 skeleton|visceral arch 2|hyoid arch|hyoid arch skeleton|hyoid bars http://purl.obolibrary.org/obo/UBERON_0005884 GO:0031348 biolink:BiologicalProcess negative regulation of defense response Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response. hp.json downregulation of defense response|down regulation of defense response|inhibition of defense response|down-regulation of defense response http://purl.obolibrary.org/obo/GO_0031348 GO:0031349 biolink:BiologicalProcess positive regulation of defense response Any process that activates or increases the frequency, rate or extent of a defense response. hp.json up regulation of defense response|stimulation of defense response|up-regulation of defense response|activation of defense response|upregulation of defense response http://purl.obolibrary.org/obo/GO_0031349 GO:0031346 biolink:BiologicalProcess positive regulation of cell projection organization Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. hp.json positive regulation of cell projection organisation|upregulation of cell projection organization|positive regulation of cell projection organization and biogenesis|up regulation of cell projection organization|stimulation of cell projection organization|up-regulation of cell projection organization|activation of cell projection organization http://purl.obolibrary.org/obo/GO_0031346 GO:0031347 biolink:BiologicalProcess regulation of defense response Any process that modulates the frequency, rate or extent of a defense response. hp.json http://purl.obolibrary.org/obo/GO_0031347 GO:0045995 biolink:BiologicalProcess regulation of embryonic development Any process that modulates the frequency, rate or extent of embryonic development. hp.json http://purl.obolibrary.org/obo/GO_0045995 GO:0045992 biolink:BiologicalProcess negative regulation of embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of embryonic development. hp.json down regulation of embryonic development|downregulation of embryonic development|inhibition of embryonic development|down-regulation of embryonic development http://purl.obolibrary.org/obo/GO_0045992 PR:000030026 biolink:Protein CALCA gene translation product (human) A CALCA gene translation product that is encoded in the genome of human. hp.json CGRP-I (human)|CALC1 (human)|alpha-type CGRP (human)|calcitonin gene-related peptide I (human)|hCALCA http://purl.obolibrary.org/obo/PR_000030026 HP:0040092 biolink:PhenotypicFeature Asymmetry of the shape of the ears UMLS:C4022445 hp.json Asymmetry of the shape of the ears http://purl.obolibrary.org/obo/HP_0040092 GO:0070956 biolink:BiologicalProcess negative regulation of neutrophil mediated killing of bacterium Any process that decreases the frequency, rate or extent of the directed killing of a bacterium by a neutrophil. hp.json inhibition of neutrophil mediated killing of bacterium|down-regulation of neutrophil mediated killing of bacterium|downregulation of neutrophil mediated killing of bacterium|down regulation of neutrophil mediated killing of bacterium http://purl.obolibrary.org/obo/GO_0070956 HP:0040093 biolink:PhenotypicFeature Asymmetry of the position of the ears UMLS:C4022444 hp.json Uneven ears http://purl.obolibrary.org/obo/HP_0040093 GO:0070954 biolink:BiologicalProcess negative regulation of neutrophil mediated cytotoxicity Any process that decreases the frequency, rate or extent of the directed killing of a target cell by a neutrophil. hp.json down-regulation of neutrophil mediated cytotoxicity|downregulation of neutrophil mediated cytotoxicity|down regulation of neutrophil mediated cytotoxicity|inhibition of neutrophil mediated cytotoxicity|negative regulation of neutrophil mediated cell killing http://purl.obolibrary.org/obo/GO_0070954 HP:0040090 biolink:PhenotypicFeature Abnormality of the tympanic membrane An abnormality of the tympanic membrane UMLS:C4022447 hp.json Abnormality of the eardrum http://purl.obolibrary.org/obo/HP_0040090 GO:0070955 biolink:BiologicalProcess negative regulation of neutrophil mediated killing of symbiont cell Any process that decreases the frequency, rate or extent of the directed killing of a symbiont target cell by a neutrophil. hp.json downregulation of neutrophil mediated killing of symbiont cell|down regulation of neutrophil mediated killing of symbiont cell|inhibition of neutrophil mediated killing of symbiont cell|down-regulation of neutrophil mediated killing of symbiont cell http://purl.obolibrary.org/obo/GO_0070955 HP:0040091 biolink:PhenotypicFeature Asymmetry of the size of ears UMLS:C4022446 hp.json Asymmetry of the size of ears http://purl.obolibrary.org/obo/HP_0040091 GO:0031344 biolink:BiologicalProcess regulation of cell projection organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. hp.json regulation of cell projection organization and biogenesis|regulation of cell projection organisation http://purl.obolibrary.org/obo/GO_0031344 HP:0040096 biolink:PhenotypicFeature Neoplasm of the inner ear A tumor (abnormal growth of tissue) of the inner ear. UMLS:C1512779|NCIT:C3262 hp.json Inner ear tumour|Inner ear tumor http://purl.obolibrary.org/obo/HP_0040096 HP:0040097 biolink:PhenotypicFeature Neoplasm of the ceruminal gland A tumor (abnormal growth of tissue) of the ceruminal gland. SNOMEDCT_US:52707009|SNOMEDCT_US:403945001|NCIT:C3262|UMLS:C0334352 hp.json Adenoma of the ceruminous gland|Ceruminous adenoma|Ceruminoma http://purl.obolibrary.org/obo/HP_0040097 GO:0031345 biolink:BiologicalProcess negative regulation of cell projection organization Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. hp.json inhibition of cell projection organization|down-regulation of cell projection organization|down regulation of cell projection organization|negative regulation of cell projection organization and biogenesis|downregulation of cell projection organization|negative regulation of cell projection organisation http://purl.obolibrary.org/obo/GO_0031345 GO:0031342 biolink:BiologicalProcess negative regulation of cell killing Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing. hp.json down regulation of cell killing|inhibition of cell killing|down-regulation of cell killing|downregulation of cell killing http://purl.obolibrary.org/obo/GO_0031342 GO:0070950 biolink:BiologicalProcess regulation of neutrophil mediated killing of bacterium Any process that modulates the rate, frequency or extent of neutrophil mediated killing of a bacterium, the directed killing of a bacterium by a neutrophil. hp.json http://purl.obolibrary.org/obo/GO_0070950 HP:0040095 biolink:PhenotypicFeature Neoplasm of the outer ear A tumor (abnormal growth of tissue) of the outer ear. UMLS:C4022443|NCIT:C3262 hp.json Outer ear tumour|Outer ear tumor http://purl.obolibrary.org/obo/HP_0040095 GO:0031343 biolink:BiologicalProcess positive regulation of cell killing Any process that activates or increases the frequency, rate or extent of cell killing. hp.json upregulation of cell killing|up regulation of cell killing|stimulation of cell killing|activation of cell killing|up-regulation of cell killing http://purl.obolibrary.org/obo/GO_0031343 GO:0031340 biolink:BiologicalProcess positive regulation of vesicle fusion Any process that activates or increases the frequency, rate or extent of vesicle fusion. hp.json up regulation of vesicle fusion|stimulation of vesicle fusion|up-regulation of vesicle fusion|activation of vesicle fusion|upregulation of vesicle fusion http://purl.obolibrary.org/obo/GO_0031340 GO:0031341 biolink:BiologicalProcess regulation of cell killing Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism. hp.json http://purl.obolibrary.org/obo/GO_0031341 HP:0040098 biolink:PhenotypicFeature Basalioma of the outer ear UMLS:C4022442 hp.json http://purl.obolibrary.org/obo/HP_0040098 HP:0040099 biolink:PhenotypicFeature Abnormality of the round window UMLS:C4022441 hp.json http://purl.obolibrary.org/obo/HP_0040099 GO:0031339 biolink:BiologicalProcess negative regulation of vesicle fusion Any process that stops, prevents, or reduces the frequency, rate or extent of vesicle fusion. hp.json inhibition of vesicle fusion|down-regulation of vesicle fusion|downregulation of vesicle fusion|down regulation of vesicle fusion http://purl.obolibrary.org/obo/GO_0031339 GO:0031337 biolink:BiologicalProcess positive regulation of sulfur amino acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. hp.json upregulation of sulfur amino acid metabolic process|up-regulation of sulfur amino acid metabolic process|up regulation of sulfur amino acid metabolic process|activation of sulfur amino acid metabolic process|positive regulation of sulfur amino acid metabolism|stimulation of sulfur amino acid metabolic process http://purl.obolibrary.org/obo/GO_0031337 GO:0031338 biolink:BiologicalProcess regulation of vesicle fusion Any process that modulates the frequency, rate or extent of vesicle fusion. hp.json http://purl.obolibrary.org/obo/GO_0031338 GO:0031335 biolink:BiologicalProcess regulation of sulfur amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. hp.json regulation of sulfur amino acid metabolism http://purl.obolibrary.org/obo/GO_0031335 GO:0031336 biolink:BiologicalProcess negative regulation of sulfur amino acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. hp.json down-regulation of sulfur amino acid metabolic process|down regulation of sulfur amino acid metabolic process|downregulation of sulfur amino acid metabolic process|inhibition of sulfur amino acid metabolic process|negative regulation of sulfur amino acid metabolism http://purl.obolibrary.org/obo/GO_0031336 PR:000029032 biolink:Protein Mus musculus protein A protein that is encoded in the genome of Mus musculus. hp.json mouse protein http://purl.obolibrary.org/obo/PR_000029032 GO:0070949 biolink:BiologicalProcess regulation of neutrophil mediated killing of symbiont cell Any process that modulates the rate, frequency or extent of neutrophil mediated killing of a symbiont cell, the directed killing of a symbiont target cell by a neutrophil. hp.json http://purl.obolibrary.org/obo/GO_0070949 GO:0070948 biolink:BiologicalProcess regulation of neutrophil mediated cytotoxicity Any process that modulates the rate, frequency or extent of neutrophil mediated killing of a target cell, the directed killing of a target cell by a neutrophil. hp.json regulation of neutrophil mediated cell killing http://purl.obolibrary.org/obo/GO_0070948 GO:0070943 biolink:BiologicalProcess neutrophil-mediated killing of symbiont cell The directed killing of a symbiont target cell by a neutrophil. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction. hp.json neutrophil mediated killing of symbiont cell http://purl.obolibrary.org/obo/GO_0070943 GO:0070944 biolink:BiologicalProcess neutrophil-mediated killing of bacterium The directed killing of a bacterium by a neutrophil. hp.json neutrophil mediated killing of bacterium http://purl.obolibrary.org/obo/GO_0070944 GO:0031333 biolink:BiologicalProcess negative regulation of protein-containing complex assembly Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. hp.json downregulation of protein complex assembly|down regulation of protein complex assembly|inhibition of protein complex assembly|down-regulation of protein complex assembly|negative regulation of protein complex assembly http://purl.obolibrary.org/obo/GO_0031333 GO:0031334 biolink:BiologicalProcess positive regulation of protein-containing complex assembly Any process that activates or increases the frequency, rate or extent of protein complex assembly. hp.json stimulation of protein complex assembly|up-regulation of protein complex assembly|positive regulation of protein complex assembly|activation of protein complex assembly|upregulation of protein complex assembly|up regulation of protein complex assembly http://purl.obolibrary.org/obo/GO_0031334 GO:0070942 biolink:BiologicalProcess neutrophil mediated cytotoxicity The directed killing of a target cell by a neutrophil. hp.json neutrophil mediated cell killing http://purl.obolibrary.org/obo/GO_0070942 GO:0031331 biolink:BiologicalProcess positive regulation of cellular catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. hp.json upregulation of cellular catabolic process|positive regulation of cellular breakdown|up regulation of cellular catabolic process|stimulation of cellular catabolic process|up-regulation of cellular catabolic process|activation of cellular catabolic process|positive regulation of cellular catabolism|positive regulation of cellular degradation http://purl.obolibrary.org/obo/GO_0031331 GO:0033993 biolink:BiologicalProcess response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. hp.json http://purl.obolibrary.org/obo/GO_0033993 GO:0031330 biolink:BiologicalProcess negative regulation of cellular catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. hp.json down regulation of cellular catabolic process|negative regulation of cellular catabolism|inhibition of cellular catabolic process|down-regulation of cellular catabolic process|negative regulation of cellular degradation|downregulation of cellular catabolic process|negative regulation of cellular breakdown http://purl.obolibrary.org/obo/GO_0031330 GO:0031328 biolink:BiologicalProcess positive regulation of cellular biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. hp.json up-regulation of cellular biosynthetic process|positive regulation of cellular anabolism|up regulation of cellular biosynthetic process|activation of cellular biosynthetic process|positive regulation of cellular biosynthesis|positive regulation of cellular synthesis|stimulation of cellular biosynthetic process|positive regulation of cellular formation|upregulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0031328 GO:0031329 biolink:BiologicalProcess regulation of cellular catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. hp.json regulation of cellular breakdown|regulation of cellular degradation|regulation of cellular catabolism http://purl.obolibrary.org/obo/GO_0031329 GO:0031326 biolink:BiologicalProcess regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. hp.json regulation of cellular anabolism|regulation of cellular synthesis|regulation of cellular biosynthesis|regulation of cellular formation http://purl.obolibrary.org/obo/GO_0031326 GO:0031327 biolink:BiologicalProcess negative regulation of cellular biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. hp.json downregulation of cellular biosynthetic process|inhibition of cellular biosynthetic process|negative regulation of cellular synthesis|negative regulation of cellular formation|down-regulation of cellular biosynthetic process|negative regulation of cellular biosynthesis|down regulation of cellular biosynthetic process|negative regulation of cellular anabolism http://purl.obolibrary.org/obo/GO_0031327 GO:0031324 biolink:BiologicalProcess negative regulation of cellular metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. hp.json inhibition of cellular metabolic process|down-regulation of cellular metabolic process|downregulation of cellular metabolic process|negative regulation of cellular metabolism|down regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0031324 gocheck_do_not_annotate GO:0031325 biolink:BiologicalProcess positive regulation of cellular metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. hp.json upregulation of cellular metabolic process|up regulation of cellular metabolic process|positive regulation of cellular metabolism|stimulation of cellular metabolic process|up-regulation of cellular metabolic process|activation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0031325 gocheck_do_not_annotate CHEBI:189840 biolink:ChemicalSubstance dicarboxylic fatty acid Any fatty acid containing two carboxy groups. hp.json http://purl.obolibrary.org/obo/CHEBI_189840 2_STAR GO:0043354 biolink:BiologicalProcess enucleate erythrocyte maturation A developmental process, independent of morphogenetic (shape) change, that is required for an enucleate erythrocyte to attain its fully functional state. An enucleate erythrocyte is an erythrocyte without a nucleus. hp.json enucleate red blood cell maturation|enucleate RBC maturation http://purl.obolibrary.org/obo/GO_0043354 GO:0043353 biolink:BiologicalProcess enucleate erythrocyte differentiation The process in which a myeloid precursor cell acquires specialized features of an erythrocyte without a nucleus. An example of this process is found in Mus musculus. hp.json enucleate red blood cell differentiation|enucleate RBC differentiation http://purl.obolibrary.org/obo/GO_0043353 CHEBI:189846 biolink:ChemicalSubstance dicarboxylic fatty acid dianion Any fatty acid that contains 2 carboxylic groups. Major microspecies at pH 7.3 hp.json a dicarboxylic fatty acid http://purl.obolibrary.org/obo/CHEBI_189846 2_STAR GO:0070977 biolink:BiologicalProcess bone maturation A developmental process, independent of morphogenetic (shape) change, that is required for bone to attain its fully functional state. hp.json http://purl.obolibrary.org/obo/GO_0070977 GO:0031323 biolink:BiologicalProcess regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. hp.json regulation of cellular metabolism http://purl.obolibrary.org/obo/GO_0031323 gocheck_do_not_annotate GO:0021990 biolink:BiologicalProcess neural plate formation The formation of the flat, thickened layer of ectodermal cells known as the neural plate. The underlying dorsal mesoderm signals the ectodermal cells above it to elongate into columnar neural plate cells. The neural plate subsequently develops into the neural tube, which gives rise to the central nervous system. hp.json http://purl.obolibrary.org/obo/GO_0021990 PR:000005061 biolink:Protein catalase A protein that is a translation product of the human CAT gene or a 1:1 ortholog thereof. hp.json CAT|Cas1|Cas-1 http://purl.obolibrary.org/obo/PR_000005061 GO:0043362 biolink:BiologicalProcess nucleate erythrocyte maturation A developmental process, independent of morphogenetic (shape) change, that is required for a nucleate erythrocyte to attain its fully functional state. A nucleate erythrocyte is an erythrocyte with a nucleus. hp.json nucleate red blood cell maturation|nucleate RBC maturation http://purl.obolibrary.org/obo/GO_0043362 GO:0043363 biolink:BiologicalProcess nucleate erythrocyte differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte with a nucleus, as found in non-mammalian vertebrates such as birds. hp.json nucleate red blood cell differentiation|nucleate RBC differentiation http://purl.obolibrary.org/obo/GO_0043363 GO:0070961 biolink:BiologicalProcess positive regulation of neutrophil mediated killing of symbiont cell Any process that increases the frequency, rate or extent of the directed killing of a symbiont target cell by a neutrophil. hp.json up-regulation of neutrophil mediated killing of symbiont cell|activation of neutrophil mediated killing of symbiont cell|upregulation of neutrophil mediated killing of symbiont cell|stimulation of neutrophil mediated killing of symbiont cell|up regulation of neutrophil mediated killing of symbiont cell http://purl.obolibrary.org/obo/GO_0070961 GO:0070962 biolink:BiologicalProcess positive regulation of neutrophil mediated killing of bacterium Any process that increases the frequency, rate or extent of the directed killing of a bacterium by a neutrophil. hp.json up regulation of neutrophil mediated killing of bacterium|stimulation of neutrophil mediated killing of bacterium|up-regulation of neutrophil mediated killing of bacterium|activation of neutrophil mediated killing of bacterium|upregulation of neutrophil mediated killing of bacterium http://purl.obolibrary.org/obo/GO_0070962 GO:0021999 biolink:BiologicalProcess neural plate anterior/posterior regionalization The process that regulates the coordinated growth and differentiation that establishes the non-random anterior-posterior spatial arrangement of the neural plate. hp.json neural plate anterior/posterior pattern formation http://purl.obolibrary.org/obo/GO_0021999 GO:0070960 biolink:BiologicalProcess positive regulation of neutrophil mediated cytotoxicity Any process that increases the frequency, rate or extent of the directed killing of a target cell by a neutrophil. hp.json up regulation of neutrophil mediated cytotoxicity|stimulation of neutrophil mediated cytotoxicity|up-regulation of neutrophil mediated cytotoxicity|activation of neutrophil mediated cytotoxicity|upregulation of neutrophil mediated cytotoxicity|positive regulation of neutrophil mediated cell killing http://purl.obolibrary.org/obo/GO_0070960 HP:0040059 biolink:PhenotypicFeature Calcification of ribs UMLS:C4022461 hp.json http://purl.obolibrary.org/obo/HP_0040059 HGNC:6720 biolink:Gene LTF (human) A protein coding gene LTF in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6720 HP:0040052 biolink:PhenotypicFeature Abnormality of lower eyelashes UMLS:C4022466 hp.json Abnormality of lower eyelashes http://purl.obolibrary.org/obo/HP_0040052 HP:0040053 biolink:PhenotypicFeature Long lower eyelashes UMLS:C4022465 hp.json Increased length of lower eyelashes|Long lower eyelashes|Ciliary trichomegaly of lower eyelashes http://purl.obolibrary.org/obo/HP_0040053 GO:0070997 biolink:BiologicalProcess neuron death The process of cell death in a neuron. hp.json neuron cell death|neuronal cell death http://purl.obolibrary.org/obo/GO_0070997 HP:0040050 biolink:PhenotypicFeature Sparse upper eyelashes UMLS:C4022468 hp.json Sparse upper eyelashes|Hypotrichosis of upper eyelashes|Partial absence of upper eyelashes http://purl.obolibrary.org/obo/HP_0040050 GO:0021987 biolink:BiologicalProcess cerebral cortex development The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. hp.json neocortex development|corticogenesis http://purl.obolibrary.org/obo/GO_0021987 HP:0040051 biolink:PhenotypicFeature Abnormality of upper eyelashes UMLS:C4022467 hp.json Abnormality of upper eyelashes http://purl.obolibrary.org/obo/HP_0040051 HP:0040056 biolink:PhenotypicFeature Absent upper eyelashes UMLS:C4280255|UMLS:C4280294|UMLS:C4022462 hp.json Failure of development of upper eyelashes|Atrichia of upper eyelashes|Agenesis of upper eyelashes|Aplasia of upper eyelashes|Absent upper eyelashes http://purl.obolibrary.org/obo/HP_0040056 HP:0040057 biolink:PhenotypicFeature Abnormality of nasal hair UMLS:C4021858 hp.json Abnormality of nose hair|Abnormality of nasal hair http://purl.obolibrary.org/obo/HP_0040057 HP:0040054 biolink:PhenotypicFeature Short upper eyelashes UMLS:C4022464 hp.json Short upper eyelashes|Decreased length of upper eyelashes http://purl.obolibrary.org/obo/HP_0040054 HP:0040055 biolink:PhenotypicFeature Short lower eyelashes UMLS:C4022463 hp.json Short lower eyelashes|Decreased length of lower eyelashes http://purl.obolibrary.org/obo/HP_0040055 HP:0040069 biolink:PhenotypicFeature Abnormal lower limb bone morphology UMLS:C4022457|UMLS:C4022455 hp.json Abnormal morphology of bones of the lower limbs|Abnormal shape of bones of the lower limbs|Abnormality of lower limb bone http://purl.obolibrary.org/obo/HP_0040069 HP:0040063 biolink:PhenotypicFeature Decreased adipose tissue UMLS:C4022459 hp.json Decreased fat tissue http://purl.obolibrary.org/obo/HP_0040063 HP:0040064 biolink:PhenotypicFeature Abnormality of limbs SNOMEDCT_US:445144002|UMLS:C4073131|UMLS:C0239337 hp.json Abnormal limbs|Limb anomaly|Abnormality of limbs|Dysmelia http://purl.obolibrary.org/obo/HP_0040064 HP:0040061 biolink:PhenotypicFeature Osteosclerosis of the radius UMLS:C4022460 hp.json http://purl.obolibrary.org/obo/HP_0040061 HP:0040062 biolink:PhenotypicFeature Slender radius UMLS:C1968813 hp.json http://purl.obolibrary.org/obo/HP_0040062 HP:0040068 biolink:PhenotypicFeature Abnormality of limb bone UMLS:C4022456 hp.json Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040068 HP:0040065 biolink:PhenotypicFeature obsolete Abnormal morphology of bones of the upper limbs hp.json http://purl.obolibrary.org/obo/HP_0040065 HP:0040066 biolink:PhenotypicFeature obsolete Abnormal morphology of bones of the lower limbs hp.json http://purl.obolibrary.org/obo/HP_0040066 GO:0043393 biolink:BiologicalProcess regulation of protein binding Any process that modulates the frequency, rate or extent of protein binding. hp.json http://purl.obolibrary.org/obo/GO_0043393 GO:0006325 biolink:BiologicalProcess chromatin organization Any process that results in the specification, formation or maintenance of the physical structure of eukaryotic chromatin. hp.json establishment or maintenance of chromatin architecture|chromatin organisation|chromatin modification|chromatin assembly/disassembly|chromatin assembly or disassembly http://purl.obolibrary.org/obo/GO_0006325 goslim_pombe|goslim_yeast|goslim_generic PR:000029067 biolink:Protein Homo sapiens protein A protein that is encoded in the genome of Homo sapiens. hp.json human protein http://purl.obolibrary.org/obo/PR_000029067 HP:0040070 biolink:PhenotypicFeature Abnormal upper limb bone morphology UMLS:C4022454|UMLS:C4022458 hp.json Abnormality of upper limb bone|Abnormal morphology of bones of the upper limbs|Abnormal shape of bones of the upper limbs http://purl.obolibrary.org/obo/HP_0040070 HP:0040071 biolink:PhenotypicFeature Abnormal morphology of ulna Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. UMLS:C4022453 hp.json http://purl.obolibrary.org/obo/HP_0040071 HP:0040075 biolink:PhenotypicFeature Hypopituitarism UMLS:C0020635|MSH:D007018|SNOMEDCT_US:74728003 hp.json http://purl.obolibrary.org/obo/HP_0040075 HP:0040072 biolink:PhenotypicFeature Abnormal forearm bone morphology UMLS:C4022452 hp.json Abnormality of forearm bone http://purl.obolibrary.org/obo/HP_0040072 HP:0040073 biolink:PhenotypicFeature Obsolete Abnormal forearm bone morphology hp.json http://purl.obolibrary.org/obo/HP_0040073 HP:0040078 biolink:PhenotypicFeature Axonal degeneration UMLS:C1837496 hp.json http://purl.obolibrary.org/obo/HP_0040078 HP:0040079 biolink:PhenotypicFeature Irregular dentition UMLS:C1856765 hp.json Irregular teeth http://purl.obolibrary.org/obo/HP_0040079 HP:0040077 biolink:PhenotypicFeature obsolete Abnormal concentration of calcium in blood hp.json http://purl.obolibrary.org/obo/HP_0040077 PR:000030035 biolink:Protein G-protein coupled receptor A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. IUPHARfam:694 hp.json fam:GPCR|seven-transmembrane receptor|7TM receptor http://purl.obolibrary.org/obo/PR_000030035 HP:0040081 biolink:PhenotypicFeature Abnormal circulating creatine kinase concentration Any deviation from the normal circulating creatine kinase concentration. UMLS:C4022449 hp.json Abnormal circulating CPK concentration|Abnormal levels of creatine kinase in blood|Abnormal circulation phospho-CK concentration|Abnormal circulating CK concentration http://purl.obolibrary.org/obo/HP_0040081 HP:0040082 biolink:PhenotypicFeature Happy demeanor A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. UMLS:C1856115 hp.json Happy demeanor|Happy demeanour http://purl.obolibrary.org/obo/HP_0040082 HP:0040080 biolink:PhenotypicFeature Anteverted ears UMLS:C1857055 hp.json http://purl.obolibrary.org/obo/HP_0040080 HP:0040085 biolink:PhenotypicFeature Abnormal circulating aldosterone UMLS:C0857898 hp.json Abnormal circulating aldosterone|Abnormal plasma aldosterone http://purl.obolibrary.org/obo/HP_0040085 HP:0040086 biolink:PhenotypicFeature Abnormal prolactin level UMLS:C4022448 hp.json Abnormal prolactin level http://purl.obolibrary.org/obo/HP_0040086 GO:0021953 biolink:BiologicalProcess central nervous system neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron whose cell body resides in the central nervous system. hp.json http://purl.obolibrary.org/obo/GO_0021953 GO:0021954 biolink:BiologicalProcess central nervous system neuron development The process whose specific outcome is the progression of a neuron whose cell body is located in the central nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron. hp.json http://purl.obolibrary.org/obo/GO_0021954 HP:0040083 biolink:PhenotypicFeature obsolete Toe walking Toe walking is a pattern of walking in which a person walks on balls of his or her feet, with no contact between the heels and ground. Toe-walking is common in children who are learning to walk, but most children outgrow it around the age of two years. This term refers to the persistance of toe-walking beyond the usual age. hp.json http://purl.obolibrary.org/obo/HP_0040083 HP:0040084 biolink:PhenotypicFeature Abnormal circulating renin A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. UMLS:C4021038 hp.json Abnormal circulating renin|Abnormal plasma renin http://purl.obolibrary.org/obo/HP_0040084 HP:0040089 biolink:PhenotypicFeature Abnormal natural killer cell count Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. UMLS:C4021036 hp.json Abnormality of natural killer cell count|Abnormal number of natural killer cells|Abnormal NK cell count http://purl.obolibrary.org/obo/HP_0040089 HP:0040087 biolink:PhenotypicFeature Abnormal blood folate concentration Any deviation from the normal concentration of folate in the blood circulation. UMLS:C4021037 hp.json Abnormality of folate in blood|Abnormal serum folate http://purl.obolibrary.org/obo/HP_0040087 HP:0040088 biolink:PhenotypicFeature Abnormal lymphocyte count Any abnormality in the total number of lymphocytes in the blood. UMLS:C0580550|SNOMEDCT_US:165534000 hp.json Abnormal numbers of lymphocytes|Abnormal lymphocyte counts|Abnormality of lymphocyte number|Abnormal number of lymphocytes|Abnormal lymphocyte count http://purl.obolibrary.org/obo/HP_0040088 HP:0040016 biolink:PhenotypicFeature Prominent coccyx UMLS:C4022490 hp.json Prominent tailbone http://purl.obolibrary.org/obo/HP_0040016 HP:0040017 biolink:PhenotypicFeature Protruding coccyx UMLS:C4022489 hp.json Protruding tailbone http://purl.obolibrary.org/obo/HP_0040017 HP:0040014 biolink:PhenotypicFeature Increased mitochondrial number UMLS:C4022492 hp.json http://purl.obolibrary.org/obo/HP_0040014 HP:0040015 biolink:PhenotypicFeature Increased activity of mitochondrial respiratory chain UMLS:C4022491 hp.json http://purl.obolibrary.org/obo/HP_0040015 HP:0003070 biolink:PhenotypicFeature Elbow ankylosis SNOMEDCT_US:202307002|UMLS:C0409477 hp.json http://purl.obolibrary.org/obo/HP_0003070 HP:0040018 biolink:PhenotypicFeature Clinodactyly of hallux UMLS:C4280299|UMLS:C4022488 hp.json Curvature of big toe http://purl.obolibrary.org/obo/HP_0040018 HP:0040019 biolink:PhenotypicFeature Finger clinodactyly SNOMEDCT_US:17268007|UMLS:C0265610|UMLS:C4280298 hp.json Curvature of finger http://purl.obolibrary.org/obo/HP_0040019 NBO:0001786 biolink:NamedThing regulation of behavior "Any process that modulates the frequency, rate or extent of behavior, the specific actions or reactions of an organism in response to external or internal stimuli." [GO:0050795] hp.json http://purl.obolibrary.org/obo/NBO_0001786 HP:0030693 biolink:PhenotypicFeature Supratentorial neoplasm A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli. SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|UMLS:C0038874|MSH:D015173|SNOMEDCT_US:127026004|UMLS:C0031941|NCIT:C3328|MSH:D010871 hp.json Pineal parenchymal tumor|Pineal parenchymal tumour http://purl.obolibrary.org/obo/HP_0030693 HP:0030694 biolink:PhenotypicFeature Pineal parenchymal cell neoplasm SNOMEDCT_US:47598005|SNOMEDCT_US:359619007|UMLS:C0031941|SNOMEDCT_US:127026004|MSH:D010871 hp.json http://purl.obolibrary.org/obo/HP_0030694 HP:0030690 biolink:PhenotypicFeature Gingival cleft A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla. UMLS:C0426489|SNOMEDCT_US:109622003 hp.json http://purl.obolibrary.org/obo/HP_0030690 HP:0030691 biolink:PhenotypicFeature Divergence nystagmus A condition in which both eyes beat outward simultaneously. UMLS:C4073130 hp.json http://purl.obolibrary.org/obo/HP_0030691 HP:0030692 biolink:PhenotypicFeature Brain neoplasm A benign or malignant neoplasm that arises from or metastasizes to the brain. NCIT:C2907|MSH:D001932|SNOMEDCT_US:254935002|SNOMEDCT_US:126952004|UMLS:C0006118 hp.json Brain tumour|Brain tumor http://purl.obolibrary.org/obo/HP_0030692 GO:0045916 biolink:BiologicalProcess negative regulation of complement activation Any process that stops, prevents, or reduces the frequency, rate or extent of complement activation. hp.json down-regulation of complement activation|down regulation of complement activation|downregulation of complement activation|inhibition of complement activation|negative regulation of complement cascade http://purl.obolibrary.org/obo/GO_0045916 GO:0045917 biolink:BiologicalProcess positive regulation of complement activation Any process that activates or increases the frequency, rate or extent of complement activation. hp.json activation of complement activation|stimulation of complement activation|positive regulation of complement cascade|upregulation of complement activation|up-regulation of complement activation|up regulation of complement activation http://purl.obolibrary.org/obo/GO_0045917 GO:0045914 biolink:BiologicalProcess negative regulation of catecholamine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. hp.json down regulation of catecholamine metabolic process|negative regulation of catecholamine metabolism|downregulation of catecholamine metabolic process|inhibition of catecholamine metabolic process|down-regulation of catecholamine metabolic process http://purl.obolibrary.org/obo/GO_0045914 HP:0003068 biolink:PhenotypicFeature Madelung-like forearm deformities UMLS:C1851419 hp.json http://purl.obolibrary.org/obo/HP_0003068 GO:0045915 biolink:BiologicalProcess positive regulation of catecholamine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. hp.json up-regulation of catecholamine metabolic process|positive regulation of catecholamine metabolism|up regulation of catecholamine metabolic process|activation of catecholamine metabolic process|stimulation of catecholamine metabolic process|upregulation of catecholamine metabolic process http://purl.obolibrary.org/obo/GO_0045915 GO:0045912 biolink:BiologicalProcess negative regulation of carbohydrate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. hp.json inhibition of carbohydrate metabolic process|down-regulation of carbohydrate metabolic process|downregulation of carbohydrate metabolic process|negative regulation of carbohydrate metabolism|down regulation of carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0045912 GO:0045913 biolink:BiologicalProcess positive regulation of carbohydrate metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. hp.json upregulation of carbohydrate metabolic process|up regulation of carbohydrate metabolic process|stimulation of carbohydrate metabolic process|positive regulation of carbohydrate metabolism|up-regulation of carbohydrate metabolic process|activation of carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0045913 HP:0003063 biolink:PhenotypicFeature Abnormality of the humerus An abnormality of the humerus (i.e., upper arm bone). UMLS:C4021742 hp.json Abnormality of the humeri http://purl.obolibrary.org/obo/HP_0003063 HP:0040012 biolink:PhenotypicFeature Chromosome breakage Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. MSH:D019457|UMLS:C0376628 hp.json Multiple chromosomal breaks|Increased chromosomal breakage rate|Increased chromosomal breakage|High frequency of chromosome breaks in lymphocytes|Tendency to chromosomal breakage http://purl.obolibrary.org/obo/HP_0040012 HP:0003067 biolink:PhenotypicFeature Madelung deformity An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. MSH:C562398|SNOMEDCT_US:4530000|UMLS:C0152441 hp.json Madelung wrist deformity http://purl.obolibrary.org/obo/HP_0003067 hposlim_core HP:0040013 biolink:PhenotypicFeature Decreased mitochondrial number UMLS:C4022493 hp.json http://purl.obolibrary.org/obo/HP_0040013 HP:0003066 biolink:PhenotypicFeature Limited knee extension Reduced ability to extend (straighten) the knee joint. UMLS:C1844690 hp.json Limited knee extension http://purl.obolibrary.org/obo/HP_0003066 HP:0003065 biolink:PhenotypicFeature Patellar hypoplasia Underdevelopment of the patella. UMLS:C1840068 hp.json Small patellae|Small kneecap|Underdeveloped kneecap|Hypoplastic patellae|Small patella http://purl.obolibrary.org/obo/HP_0003065 HP:0040010 biolink:PhenotypicFeature Small posterior fossa UMLS:C4022496 hp.json http://purl.obolibrary.org/obo/HP_0040010 HP:0040011 biolink:PhenotypicFeature Flat posterior fossa UMLS:C4022495 hp.json http://purl.obolibrary.org/obo/HP_0040011 HP:0040025 biolink:PhenotypicFeature Clinodactyly of the 4th finger UMLS:C4022484|UMLS:C4280295 hp.json Curvature of ring finger http://purl.obolibrary.org/obo/HP_0040025 HP:0003081 biolink:PhenotypicFeature Increased urinary potassium An increased concentration of potassium(1+) in the urine. UMLS:C1846351 hp.json Increased urinary K|Hyperkaliuresis|Increased urinary potassium http://purl.obolibrary.org/obo/HP_0003081 HP:0003080 biolink:PhenotypicFeature Hydroxyprolinuria An increased concentration of 4-hydroxy-L-proline in the urine. UMLS:C0948585 hp.json Elevated urinary hydroxyproline http://purl.obolibrary.org/obo/HP_0003080 GO:0045920 biolink:BiologicalProcess negative regulation of exocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of exocytosis. hp.json down regulation of exocytosis|inhibition of exocytosis|down-regulation of exocytosis|downregulation of exocytosis http://purl.obolibrary.org/obo/GO_0045920 GO:0045927 biolink:BiologicalProcess positive regulation of growth Any process that activates or increases the rate or extent of growth, the increase in size or mass of all or part of an organism. hp.json upregulation of growth|up regulation of growth|stimulation of growth|up-regulation of growth|activation of growth http://purl.obolibrary.org/obo/GO_0045927 HP:0003079 biolink:PhenotypicFeature Defective DNA repair after ultraviolet radiation damage UMLS:C1968564 hp.json http://purl.obolibrary.org/obo/HP_0003079 GO:0045926 biolink:BiologicalProcess negative regulation of growth Any process that stops, prevents or reduces the rate or extent of growth, the increase in size or mass of all or part of an organism. hp.json downregulation of growth|down regulation of growth|inhibition of growth|down-regulation of growth http://purl.obolibrary.org/obo/GO_0045926 GO:0045923 biolink:BiologicalProcess positive regulation of fatty acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. hp.json positive regulation of fatty acid metabolism|upregulation of fatty acid metabolic process|up regulation of fatty acid metabolic process|stimulation of fatty acid metabolic process|activation of fatty acid metabolic process|up-regulation of fatty acid metabolic process http://purl.obolibrary.org/obo/GO_0045923 GO:0045921 biolink:BiologicalProcess positive regulation of exocytosis Any process that activates or increases the frequency, rate or extent of exocytosis. hp.json upregulation of exocytosis|stimulation of exocytosis|up regulation of exocytosis|up-regulation of exocytosis|activation of exocytosis http://purl.obolibrary.org/obo/GO_0045921 GO:0045922 biolink:BiologicalProcess negative regulation of fatty acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. hp.json inhibition of fatty acid metabolic process|down-regulation of fatty acid metabolic process|negative regulation of fatty acid metabolism|downregulation of fatty acid metabolic process|down regulation of fatty acid metabolic process http://purl.obolibrary.org/obo/GO_0045922 HP:0003074 biolink:PhenotypicFeature Hyperglycemia An increased concentration of glucose in the blood. UMLS:C0020456|MSH:D006943|SNOMEDCT_US:80394007|SNOMEDCT_US:237598005 hp.json High blood sugar|High blood glucose http://purl.obolibrary.org/obo/HP_0003074 HP:0003073 biolink:PhenotypicFeature Hypoalbuminemia Reduction in the concentration of albumin in the blood. MSH:D034141|SNOMEDCT_US:119247004|UMLS:C0239981 hp.json Hypoalbuminaemia|Low blood albumin|Low albumin http://purl.obolibrary.org/obo/HP_0003073 HP:0040020 biolink:PhenotypicFeature Radial deviation of the 5th finger UMLS:C4022487 hp.json http://purl.obolibrary.org/obo/HP_0040020 HP:0003072 biolink:PhenotypicFeature Hypercalcemia An abnormally increased calcium concentration in the blood. SNOMEDCT_US:66931009|SNOMEDCT_US:166702002|UMLS:C0020437|MSH:D006934 hp.json Hypercalcaemia|High blood calcium levels|Increased calcium in blood http://purl.obolibrary.org/obo/HP_0003072 HP:0003071 biolink:PhenotypicFeature Flattened epiphysis Abnormal flatness (decreased height) of epiphyses. UMLS:C1857527 hp.json Flat epiphyses|Flat end part of bone http://purl.obolibrary.org/obo/HP_0003071 HP:0040023 biolink:PhenotypicFeature Clinodactyly of the thumb UMLS:C1856888|UMLS:C4280297 hp.json Curvature of thumb http://purl.obolibrary.org/obo/HP_0040023 HP:0040024 biolink:PhenotypicFeature Clinodactyly of the 3rd finger UMLS:C4280296|UMLS:C4022485 hp.json Curvature of middle finger http://purl.obolibrary.org/obo/HP_0040024 HP:0003077 biolink:PhenotypicFeature Hyperlipidemia An elevated lipid concentration in the blood. UMLS:C0020473|MSH:D006949|SNOMEDCT_US:55822004 hp.json Elevated lipids in blood http://purl.obolibrary.org/obo/HP_0003077 HP:0003076 biolink:PhenotypicFeature Glycosuria An increased concentration of glucose in the urine. UMLS:C0017979|MSH:D006029|SNOMEDCT_US:45154002 hp.json Glucosuria|Glucose in urine http://purl.obolibrary.org/obo/HP_0003076 HP:0040021 biolink:PhenotypicFeature obsolete Radial deviation of the thumb hp.json http://purl.obolibrary.org/obo/HP_0040021 HP:0003075 biolink:PhenotypicFeature Hypoproteinemia A decreased concentration of protein in the blood. SNOMEDCT_US:8900005|MSH:D007019|UMLS:C0020639 hp.json Decreased protein levels in blood http://purl.obolibrary.org/obo/HP_0003075 HP:0040022 biolink:PhenotypicFeature Clinodactyly of the 2nd finger UMLS:C4022486 hp.json Second finger clinodactyly|Curvature of index finger http://purl.obolibrary.org/obo/HP_0040022 HP:0040038 biolink:PhenotypicFeature obsolete Thin toenail hp.json http://purl.obolibrary.org/obo/HP_0040038 HP:0040039 biolink:PhenotypicFeature Onycholysis of fingernails UMLS:C3553044 hp.json Onycholysis of fingernail|Detachment of fingernails http://purl.obolibrary.org/obo/HP_0040039 HP:0040036 biolink:PhenotypicFeature Onychogryposis of fingernail Thickened fingernails. UMLS:C4022477 hp.json Overgrowth and curving of fingernail http://purl.obolibrary.org/obo/HP_0040036 HP:0040037 biolink:PhenotypicFeature obsolete Thin fingernail (obsolete) hp.json http://purl.obolibrary.org/obo/HP_0040037 GO:0045930 biolink:BiologicalProcess negative regulation of mitotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle. hp.json down-regulation of progression through mitotic cell cycle|negative regulation of progression through mitotic cell cycle|negative regulation of mitotic cell cycle progression|downregulation of progression through mitotic cell cycle|down regulation of progression through mitotic cell cycle|inhibition of progression through mitotic cell cycle http://purl.obolibrary.org/obo/GO_0045930 GO:0045931 biolink:BiologicalProcess positive regulation of mitotic cell cycle Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. hp.json upregulation of progression through mitotic cell cycle|up regulation of progression through mitotic cell cycle|stimulation of progression through mitotic cell cycle|up-regulation of progression through mitotic cell cycle|positive regulation of progression through mitotic cell cycle|positive regulation of mitotic cell cycle progression|activation of progression through mitotic cell cycle http://purl.obolibrary.org/obo/GO_0045931 GO:0045938 biolink:BiologicalProcess positive regulation of circadian sleep/wake cycle, sleep Any process that activates or increases the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. hp.json activation of circadian sleep/wake cycle, sleep|stimulation of circadian sleep/wake cycle, sleep|upregulation of circadian sleep/wake cycle, sleep|positive regulation of sleep|up-regulation of circadian sleep/wake cycle, sleep|up regulation of circadian sleep/wake cycle, sleep http://purl.obolibrary.org/obo/GO_0045938 HP:0003049 biolink:PhenotypicFeature Ulnar deviation of the wrist SNOMEDCT_US:43689004|UMLS:C0231678 hp.json Ulnar deviation of wrists http://purl.obolibrary.org/obo/HP_0003049 GO:0045939 biolink:BiologicalProcess negative regulation of steroid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving steroids. hp.json down-regulation of steroid metabolic process|down regulation of steroid metabolic process|negative regulation of steroid metabolism|inhibition of steroid metabolic process|downregulation of steroid metabolic process http://purl.obolibrary.org/obo/GO_0045939 HP:0003048 biolink:PhenotypicFeature Radial head subluxation Partial dislocation of the head of the radius. SNOMEDCT_US:417109008|SNOMEDCT_US:95854004|UMLS:C0149977 hp.json Radial subluxation|Radial-head subluxation http://purl.obolibrary.org/obo/HP_0003048 GO:0045936 biolink:BiologicalProcess negative regulation of phosphate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving phosphates. hp.json down regulation of phosphate metabolic process|downregulation of phosphate metabolic process|inhibition of phosphate metabolic process|negative regulation of phosphate metabolism|down-regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0045936 GO:0045937 biolink:BiologicalProcess positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. hp.json upregulation of phosphate metabolic process|up-regulation of phosphate metabolic process|up regulation of phosphate metabolic process|activation of phosphate metabolic process|stimulation of phosphate metabolic process|positive regulation of phosphate metabolism http://purl.obolibrary.org/obo/GO_0045937 GO:0045934 biolink:BiologicalProcess negative regulation of nucleobase-containing compound metabolic process Any cellular process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. hp.json inhibition of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|downregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism http://purl.obolibrary.org/obo/GO_0045934 GO:0045935 biolink:BiologicalProcess positive regulation of nucleobase-containing compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. hp.json positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|up regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|activation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|stimulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|upregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process http://purl.obolibrary.org/obo/GO_0045935 GO:0045932 biolink:BiologicalProcess negative regulation of muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of muscle contraction. hp.json downregulation of muscle contraction|down regulation of muscle contraction|inhibition of muscle contraction|down-regulation of muscle contraction http://purl.obolibrary.org/obo/GO_0045932 GO:0045933 biolink:BiologicalProcess positive regulation of muscle contraction Any process that activates or increases the frequency, rate or extent of muscle contraction. hp.json up regulation of muscle contraction|stimulation of muscle contraction|up-regulation of muscle contraction|activation of muscle contraction|upregulation of muscle contraction http://purl.obolibrary.org/obo/GO_0045933 CHEBI:606565 biolink:ChemicalSubstance N-benzoylglycinate An alpha-amino-acid anion that is the conjugate base of N-benzoylglycine; major species at pH 7.3. PMID:22153801|Gmelin:329632|MetaCyc:CPD-425|Reaxys:3610359|Beilstein:3610359 hp.json N-benzoylglycinate anion|hippurate|2-benzamidoacetate|N-benzoylglycinate(1-)|N-benzoylglycine|(benzoylamino)acetate http://purl.obolibrary.org/obo/CHEBI_606565 3_STAR HP:0003041 biolink:PhenotypicFeature Humeroradial synostosis An abnormal osseous union (fusion) between the radius and the humerus. MSH:C535284|UMLS:C1863360|SNOMEDCT_US:205329008|UMLS:C2930865 hp.json Fusion of upper and lower arm bones|Synostosis of radius and humerus|Humeral-radial synostosis|Radiohumeral synostosis of elbow|Humeral radial synostosis http://purl.obolibrary.org/obo/HP_0003041 HP:0040030 biolink:PhenotypicFeature Chorioretinal hypopigmentation UMLS:C4022483 hp.json http://purl.obolibrary.org/obo/HP_0040030 HP:0003040 biolink:PhenotypicFeature Arthropathy UMLS:C0022408|MSH:D007592|SNOMEDCT_US:399269003 hp.json Disease of the joints http://purl.obolibrary.org/obo/HP_0003040 HP:0040031 biolink:PhenotypicFeature Chorioretinal hyperpigmentation UMLS:C4022482 hp.json http://purl.obolibrary.org/obo/HP_0040031 HP:0003045 biolink:PhenotypicFeature Abnormal patella morphology Abnormality of the patella (knee cap). UMLS:C4021743 hp.json Abnormal kneecap|Abnormality of the patella|Patellar abnormality http://purl.obolibrary.org/obo/HP_0003045 hposlim_core HP:0040034 biolink:PhenotypicFeature Abnormality of the second metatarsal bone UMLS:C4022479 hp.json Abnormality of the 2nd long bone of foot http://purl.obolibrary.org/obo/HP_0040034 HP:0040035 biolink:PhenotypicFeature Abnormality of the fourth metatarsal bone UMLS:C4022478 hp.json Abnormality of the 4th long bone of foot http://purl.obolibrary.org/obo/HP_0040035 HP:0003044 biolink:PhenotypicFeature Shoulder flexion contracture Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. SNOMEDCT_US:202265005|UMLS:C0409336 hp.json http://purl.obolibrary.org/obo/HP_0003044 HP:0040032 biolink:PhenotypicFeature Hypoplasia of the upper eyelids UMLS:C4022481 hp.json Small upper eyelid|Underdevelopment of upper eyelid|Hypotrophic upper eyelid|Short upper eyelid|Decreased size of upper eyelid http://purl.obolibrary.org/obo/HP_0040032 HP:0003043 biolink:PhenotypicFeature Abnormal shoulder morphology An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. UMLS:C4025659 hp.json Abnormality of the shoulder http://purl.obolibrary.org/obo/HP_0003043 hposlim_core HP:0040033 biolink:PhenotypicFeature Aplasia/Hypoplasia of the fifth metatarsal bone UMLS:C4022480 hp.json Absent/small 5th long bone of foot|Absent/underdeveloped 5th long bone of foot http://purl.obolibrary.org/obo/HP_0040033 HP:0003042 biolink:PhenotypicFeature Elbow dislocation Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. UMLS:C1403321|UMLS:C1403299|SNOMEDCT_US:125617002|SNOMEDCT_US:417558002|UMLS:C2720437 hp.json Ulnohumeral dislocation|Elbow dislocations|Radiohumeral dislocation|Dislocations of the elbows|Elbow dislocation|Radiocapitellar dislocation http://purl.obolibrary.org/obo/HP_0003042 HP:0040049 biolink:PhenotypicFeature Macular edema Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease. MSH:D008269|UMLS:C0271051|SNOMEDCT_US:37231002 hp.json Macular oedema http://purl.obolibrary.org/obo/HP_0040049 HP:0040047 biolink:PhenotypicFeature Abnormal right hemidiaphragm morphology UMLS:C4022470 hp.json Abnormality of the right hemidiaphragm http://purl.obolibrary.org/obo/HP_0040047 HP:0040048 biolink:PhenotypicFeature obsolete Aplasia of the left hemidiaphragm hp.json http://purl.obolibrary.org/obo/HP_0040048 CHEBI:606564 biolink:ChemicalSubstance prostaglandin E2(1-) The conjugate base of prostaglandin E2; major species at pH 7.3. MetaCyc:5Z13E-15S-1115-DIHYDROXY-9-OXOPROS|Beilstein:8364130 hp.json (5Z,13E,15S)-11alpha,15-dihydroxy-9-oxoprosta-5,13-dien-1-oate|prostaglandin E2 anion|prostaglandin E2 http://purl.obolibrary.org/obo/CHEBI_606564 3_STAR GO:0045940 biolink:BiologicalProcess positive regulation of steroid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving steroids. hp.json up-regulation of steroid metabolic process|positive regulation of steroid metabolism|up regulation of steroid metabolic process|activation of steroid metabolic process|stimulation of steroid metabolic process|upregulation of steroid metabolic process http://purl.obolibrary.org/obo/GO_0045940 PR:000007636 biolink:Protein forkhead box protein N1 A protein that is a translation product of the human FOXN1 gene or a 1:1 ortholog thereof. IUPHARobj:2958 hp.json Hfh11|HFH-11|HNF-3/forkhead homolog 11|hepatocyte nuclear factor 3 forkhead homolog 11|RONU|winged-helix transcription factor nude|FOXN1|WHN|Fkh19 http://purl.obolibrary.org/obo/PR_000007636 HP:0003059 biolink:PhenotypicFeature Abnormality of the radioulnar joints UMLS:C4025658 hp.json http://purl.obolibrary.org/obo/HP_0003059 GO:0045947 biolink:BiologicalProcess negative regulation of translational initiation Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation. hp.json down regulation of translational initiation|inhibition of translational initiation|down-regulation of translational initiation|downregulation of translational initiation http://purl.obolibrary.org/obo/GO_0045947 GO:0045948 biolink:BiologicalProcess positive regulation of translational initiation Any process that activates or increases the frequency, rate or extent of translational initiation. hp.json upregulation of translational initiation|up regulation of translational initiation|stimulation of translational initiation|up-regulation of translational initiation|activation of translational initiation http://purl.obolibrary.org/obo/GO_0045948 HP:0003057 biolink:PhenotypicFeature Tetraamelia Amelia of all four limbs. SNOMEDCT_US:702313004|UMLS:C2931216|MSH:C536498 hp.json Tetra-amelia http://purl.obolibrary.org/obo/HP_0003057 GO:0031399 biolink:BiologicalProcess regulation of protein modification process Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. hp.json http://purl.obolibrary.org/obo/GO_0031399 goslim_yeast HP:0040042 biolink:PhenotypicFeature Aplasia of the eccrine sweat glands UMLS:C4022475 hp.json Absent eccrine sweat glands http://purl.obolibrary.org/obo/HP_0040042 HP:0003051 biolink:PhenotypicFeature Enlarged metaphyses Abnormal increase in size of one or more metaphyses. UMLS:C1855544 hp.json Enlarged wide portion of a long bone http://purl.obolibrary.org/obo/HP_0003051 HP:0040040 biolink:PhenotypicFeature Toenail onycholysis Painless and spontaneous separation of a toenail from the nail bed. UMLS:C4022476 hp.json Detachment of toenails|Onycholysis of toenails http://purl.obolibrary.org/obo/HP_0040040 HP:0040045 biolink:PhenotypicFeature Abnormal hemidiaphragm morphology UMLS:C4022472 hp.json Abnormality of the hemidiaphragms http://purl.obolibrary.org/obo/HP_0040045 HP:0040046 biolink:PhenotypicFeature Abnormal left hemidiaphragm morphology UMLS:C4022471 hp.json Abnormality of the left hemidiaphragm http://purl.obolibrary.org/obo/HP_0040046 HP:0040043 biolink:PhenotypicFeature Hypoplasia of the eccrine sweat glands UMLS:C4022474 hp.json Underdeveloped major sweat glands http://purl.obolibrary.org/obo/HP_0040043 HP:0040044 biolink:PhenotypicFeature Hypoplasia of the diaphragm UMLS:C4022473 hp.json Underdeveloped diaphragm http://purl.obolibrary.org/obo/HP_0040044 HP:0003053 biolink:PhenotypicFeature Epiphyseal deformities of tubular bones UMLS:C1854786 hp.json http://purl.obolibrary.org/obo/HP_0003053 HP:0030650 biolink:PhenotypicFeature Focal SNOMEDCT_US:87017008|UMLS:C0205234 hp.json http://purl.obolibrary.org/obo/HP_0030650 HP:0030651 biolink:PhenotypicFeature Multifocal UMLS:C0205292|SNOMEDCT_US:524008 hp.json http://purl.obolibrary.org/obo/HP_0030651 HP:0030652 biolink:PhenotypicFeature Vitreous haze Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. UMLS:C4073113 hp.json http://purl.obolibrary.org/obo/HP_0030652 HP:0030657 biolink:PhenotypicFeature Umbilical cord hematoma Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. SNOMEDCT_US:86256001|UMLS:C0269855 hp.json Umbilical cord haematoma http://purl.obolibrary.org/obo/HP_0030657 HP:0030658 biolink:PhenotypicFeature Marginal umbilical cord insertion Insertion of the umbilical cord within 2 cm from the placental edge. UMLS:C0266788|SNOMEDCT_US:51519001 hp.json Marginal cord insertion|Battledore placenta http://purl.obolibrary.org/obo/HP_0030658 HP:0030659 biolink:PhenotypicFeature Velamentous cord insertion Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta. UMLS:C0266789|SNOMEDCT_US:77278008 hp.json http://purl.obolibrary.org/obo/HP_0030659 HP:0030654 biolink:PhenotypicFeature Umbilical cord cyst Any cystic lesion associated with the umbilical cord. UMLS:C4073114 hp.json http://purl.obolibrary.org/obo/HP_0030654 HP:0030655 biolink:PhenotypicFeature Umbilical cord knot An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord. SNOMEDCT_US:237309005|UMLS:C0344363 hp.json http://purl.obolibrary.org/obo/HP_0030655 HP:0030656 biolink:PhenotypicFeature Umbilical vein varix Focal dilation of the umbilical vein. UMLS:C4073115 hp.json http://purl.obolibrary.org/obo/HP_0030656 HP:0030660 biolink:PhenotypicFeature Furcate cord insertion Branching of the umbilical cord before its insertion into the placenta. UMLS:C4073116 hp.json http://purl.obolibrary.org/obo/HP_0030660 GO:0045963 biolink:BiologicalProcess negative regulation of dopamine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving dopamine. hp.json downregulation of dopamine metabolic process|down regulation of dopamine metabolic process|inhibition of dopamine metabolic process|down-regulation of dopamine metabolic process|negative regulation of dopamine metabolism http://purl.obolibrary.org/obo/GO_0045963 HP:0030661 biolink:PhenotypicFeature Vitreous snowballs Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery. SNOMEDCT_US:417393008|UMLS:C1563272 hp.json http://purl.obolibrary.org/obo/HP_0030661 GO:0045964 biolink:BiologicalProcess positive regulation of dopamine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving dopamine. hp.json up regulation of dopamine metabolic process|stimulation of dopamine metabolic process|activation of dopamine metabolic process|up-regulation of dopamine metabolic process|upregulation of dopamine metabolic process|positive regulation of dopamine metabolism http://purl.obolibrary.org/obo/GO_0045964 HP:0030662 biolink:PhenotypicFeature Vitreous inflammatory cells The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous. UMLS:C4073117 hp.json http://purl.obolibrary.org/obo/HP_0030662 HP:0030663 biolink:PhenotypicFeature Optically empty vitreous Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. UMLS:C4073118 hp.json http://purl.obolibrary.org/obo/HP_0030663 HP:0030668 biolink:PhenotypicFeature Periorbital dermoid cyst A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts. UMLS:C4073119 hp.json http://purl.obolibrary.org/obo/HP_0030668 HP:0030669 biolink:PhenotypicFeature Abnormal ocular adnexa morphology A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. UMLS:C4073120 hp.json http://purl.obolibrary.org/obo/HP_0030669 HP:0030664 biolink:PhenotypicFeature Beevor's sign Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. SNOMEDCT_US:61282003|UMLS:C0231616 hp.json http://purl.obolibrary.org/obo/HP_0030664 HP:0030665 biolink:PhenotypicFeature Rubral tremor Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. UMLS:C0750940|MSH:D001259 hp.json Holmes' tremor http://purl.obolibrary.org/obo/HP_0030665 HP:0030666 biolink:PhenotypicFeature Retinal neovascularization In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment. MSH:D015861|UMLS:C0035320|SNOMEDCT_US:61267008 hp.json Retinal neovascularisation http://purl.obolibrary.org/obo/HP_0030666 HP:0030667 biolink:PhenotypicFeature Peripheral retinal neovascularization A type of retinal neovascularization that affects the periphery of the retina. SNOMEDCT_US:247100001|UMLS:C0474355 hp.json http://purl.obolibrary.org/obo/HP_0030667 HP:0003091 biolink:PhenotypicFeature Trophic limb changes Trophic changes occurring in a limb. UMLS:C4025657 hp.json http://purl.obolibrary.org/obo/HP_0003091 HP:0003090 biolink:PhenotypicFeature Hypoplasia of the capital femoral epiphysis Underdevelopment of the proximal epiphysis of the femur. UMLS:C1839254 hp.json Underdevelopment of the innermost thighbone end part|Small femoral capital epiphyses|Small capital femoral epiphyses|Small innermost thighbone end part|Small proximal femoral epiphyses http://purl.obolibrary.org/obo/HP_0003090 HP:0030671 biolink:PhenotypicFeature Abnormal common tendinous ring morphology Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles. UMLS:C4073122 hp.json Abnormality of the common tendinous ring http://purl.obolibrary.org/obo/HP_0030671 HP:0030672 biolink:PhenotypicFeature Asteroid hyalosis The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. SNOMEDCT_US:95800001|UMLS:C0521770 hp.json http://purl.obolibrary.org/obo/HP_0030672 HP:0030673 biolink:PhenotypicFeature Erosive vitreoretinopathy A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. SNOMEDCT_US:232064001|UMLS:C1840452|MSH:C536075 hp.json http://purl.obolibrary.org/obo/HP_0030673 HP:0030674 biolink:PhenotypicFeature Antenatal onset Onset prior to birth. UMLS:C2673646 hp.json Prenatal onset|Intrauterine onset|Onset in utero http://purl.obolibrary.org/obo/HP_0030674 HP:0030670 biolink:PhenotypicFeature Hamartoma of the orbital region A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region. UMLS:C4073121 hp.json http://purl.obolibrary.org/obo/HP_0030670 HP:0030679 biolink:PhenotypicFeature Ash-leaf spot A hypopigmented spot in the shape of a leaf from the mountain ash tree. UMLS:C4073125 hp.json http://purl.obolibrary.org/obo/HP_0030679 HP:0030675 biolink:PhenotypicFeature Contracture of proximal interphalangeal joints of 2nd-5th fingers Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue. UMLS:C4073123 hp.json http://purl.obolibrary.org/obo/HP_0030675 HP:0030676 biolink:PhenotypicFeature Satyr ear Sharp pointed superior portion of the ear, with variable overfolding of the helix. UMLS:C4048833 hp.json Devil ear http://purl.obolibrary.org/obo/HP_0030676 HP:0030677 biolink:PhenotypicFeature Mozart ear A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus. UMLS:C4073124 hp.json http://purl.obolibrary.org/obo/HP_0030677 HP:0003085 biolink:PhenotypicFeature Long fibula Disproportionately long fibulae. UMLS:C1848109 hp.json Disproportionately long fibula|Long fibula|Long calf bone http://purl.obolibrary.org/obo/HP_0003085 hposlim_core HP:0003084 biolink:PhenotypicFeature Fractures of the long bones An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). UMLS:C0240231 hp.json Increased long bone fracture rate http://purl.obolibrary.org/obo/HP_0003084 HP:0003083 biolink:PhenotypicFeature Dislocated radial head A dislocation of the head of the radius from its socket in the elbow joint. SNOMEDCT_US:9634000|UMLS:C0265563 hp.json Dislocated radius|Radial head dislocation/subluxation|Dislocated radial heads|Congenital radial head dislocation|Dislocation of the radial head|Dislocation of radial head|Radial head dislocation|Radial dislocation http://purl.obolibrary.org/obo/HP_0003083 HP:0003089 biolink:PhenotypicFeature Hamstring contractures SNOMEDCT_US:203074005|UMLS:C0410266 hp.json Hamstring contractures http://purl.obolibrary.org/obo/HP_0003089 HP:0003088 biolink:PhenotypicFeature Premature osteoarthritis UMLS:C1835121 hp.json Premature arthritis|Premature osteoarthritis http://purl.obolibrary.org/obo/HP_0003088 HP:0003086 biolink:PhenotypicFeature Acromesomelia Small hands and feet. UMLS:C1864365 hp.json http://purl.obolibrary.org/obo/HP_0003086 HP:0040006 biolink:PhenotypicFeature Mortality/Aging UMLS:C4022499 hp.json http://purl.obolibrary.org/obo/HP_0040006 HP:0040004 biolink:PhenotypicFeature Abnormality of corneal shape UMLS:C4022500 hp.json http://purl.obolibrary.org/obo/HP_0040004 HP:0040009 biolink:PhenotypicFeature Hyperparakeratosis Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum. SNOMEDCT_US:125554003|UMLS:C1265968 hp.json http://purl.obolibrary.org/obo/HP_0040009 HP:0040007 biolink:PhenotypicFeature Absent pigmentation of chest Lack of skin pigmentation (coloring) of the chest. UMLS:C4022498 hp.json Lack of skin coloring on chest|Lack of skin colouring on chest http://purl.obolibrary.org/obo/HP_0040007 HP:0040008 biolink:PhenotypicFeature Aplasia of facial bones UMLS:C4022497|UMLS:C1385254|UMLS:C4280301|UMLS:C4280300 hp.json Missing facial bones|Failure of development of facial skeleton|Aplasia of facial skeleton|Absence of facial bones|Agenesis of facial bones|Failure of development of facial bones http://purl.obolibrary.org/obo/HP_0040008 GO:0045985 biolink:BiologicalProcess positive regulation of pyrimidine nucleobase metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. hp.json up-regulation of pyrimidine base metabolic process|up regulation of pyrimidine base metabolic process|activation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolic process|stimulation of pyrimidine base metabolic process|upregulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolism http://purl.obolibrary.org/obo/GO_0045985 HP:0030682 biolink:PhenotypicFeature Left ventricular noncompaction Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. UMLS:C1960469 hp.json http://purl.obolibrary.org/obo/HP_0030682 HP:0030683 biolink:PhenotypicFeature Vaginitis Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge. SNOMEDCT_US:30800001|MSH:D014627|UMLS:C0042267 hp.json Vulvovaginitis http://purl.obolibrary.org/obo/HP_0030683 GO:0045986 biolink:BiologicalProcess negative regulation of smooth muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle contraction. hp.json down regulation of smooth muscle contraction|inhibition of smooth muscle contraction|downregulation of smooth muscle contraction|smooth muscle relaxation|down-regulation of smooth muscle contraction http://purl.obolibrary.org/obo/GO_0045986 GO:0045983 biolink:BiologicalProcess positive regulation of purine nucleobase metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving purine bases. hp.json positive regulation of purine base metabolic process|activation of purine base metabolic process|positive regulation of purine base metabolism|stimulation of purine base metabolic process|upregulation of purine base metabolic process|up-regulation of purine base metabolic process|up regulation of purine base metabolic process http://purl.obolibrary.org/obo/GO_0045983 HP:0030684 biolink:PhenotypicFeature Abnormal adiponectin level A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism. UMLS:C4073126 hp.json http://purl.obolibrary.org/obo/HP_0030684 GO:0045984 biolink:BiologicalProcess negative regulation of pyrimidine nucleobase metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. hp.json inhibition of pyrimidine base metabolic process|downregulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolism|down-regulation of pyrimidine base metabolic process|down regulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolic process http://purl.obolibrary.org/obo/GO_0045984 HP:0030685 biolink:PhenotypicFeature Decreased adiponectin level A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. UMLS:C4073127 hp.json http://purl.obolibrary.org/obo/HP_0030685 GO:0045981 biolink:BiologicalProcess positive regulation of nucleotide metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. hp.json upregulation of nucleotide metabolic process|positive regulation of nucleotide metabolism|up regulation of nucleotide metabolic process|stimulation of nucleotide metabolic process|up-regulation of nucleotide metabolic process|activation of nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0045981 GO:0045982 biolink:BiologicalProcess negative regulation of purine nucleobase metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving purine nucleobases. hp.json down-regulation of purine base metabolic process|negative regulation of purine base metabolic process|down regulation of purine base metabolic process|inhibition of purine base metabolic process|downregulation of purine base metabolic process|negative regulation of purine base metabolism http://purl.obolibrary.org/obo/GO_0045982 HP:0030680 biolink:PhenotypicFeature Abnormality of cardiovascular system morphology Any structural anomaly of the heart and great vessels. UMLS:C4049796 hp.json Cardiovascular malformations http://purl.obolibrary.org/obo/HP_0030680 GO:0045980 biolink:BiologicalProcess negative regulation of nucleotide metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. hp.json down regulation of nucleotide metabolic process|inhibition of nucleotide metabolic process|down-regulation of nucleotide metabolic process|negative regulation of nucleotide metabolism|downregulation of nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0045980 HP:0030681 biolink:PhenotypicFeature Abnormal morphology of myocardial trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). UMLS:C4073289 hp.json http://purl.obolibrary.org/obo/HP_0030681 GO:0070925 biolink:BiologicalProcess organelle assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. hp.json http://purl.obolibrary.org/obo/GO_0070925 goslim_yeast HP:0030686 biolink:PhenotypicFeature Increased adiponectin level An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. UMLS:C4073128 hp.json http://purl.obolibrary.org/obo/HP_0030686 GO:0045989 biolink:BiologicalProcess positive regulation of striated muscle contraction Any process that activates or increases the frequency, rate or extent of striated muscle contraction. hp.json up-regulation of striated muscle contraction|up regulation of striated muscle contraction|activation of striated muscle contraction|stimulation of striated muscle contraction|upregulation of striated muscle contraction http://purl.obolibrary.org/obo/GO_0045989 HP:0030687 biolink:PhenotypicFeature Abnormal glucagon level A deviation from the normal concentration of glucagon in the blood circulation. UMLS:C4073129 hp.json http://purl.obolibrary.org/obo/HP_0030687 HP:0030688 biolink:PhenotypicFeature Increased glucagon level An elevated concentration of glucagon in the blood circulation. SNOMEDCT_US:131106002|UMLS:C1295677 hp.json http://purl.obolibrary.org/obo/HP_0030688 GO:0045987 biolink:BiologicalProcess positive regulation of smooth muscle contraction Any process that activates or increases the frequency, rate or extent of smooth muscle contraction. hp.json up-regulation of smooth muscle contraction|up regulation of smooth muscle contraction|activation of smooth muscle contraction|stimulation of smooth muscle contraction|upregulation of smooth muscle contraction http://purl.obolibrary.org/obo/GO_0045987 GO:0045988 biolink:BiologicalProcess negative regulation of striated muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle contraction. hp.json inhibition of striated muscle contraction|downregulation of striated muscle contraction|down-regulation of striated muscle contraction|down regulation of striated muscle contraction http://purl.obolibrary.org/obo/GO_0045988 HP:0030689 biolink:PhenotypicFeature Decreased glucagon level A reduced concentration of glucagon in the blood circulation. SNOMEDCT_US:131107006|UMLS:C1295678 hp.json http://purl.obolibrary.org/obo/HP_0030689 HP:0003095 biolink:PhenotypicFeature Septic arthritis SNOMEDCT_US:396234004|UMLS:C4280547|MSH:D001170|UMLS:C0003869|SNOMEDCT_US:372939007 hp.json Infected joint http://purl.obolibrary.org/obo/HP_0003095 HP:0003093 biolink:PhenotypicFeature Limited hip extension Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. UMLS:C3553368 hp.json Restricted hip extension|Limited hip extension http://purl.obolibrary.org/obo/HP_0003093 HP:0003099 biolink:PhenotypicFeature Fibular overgrowth Relatively increased growth of the fibula compared to that of the tibia. UMLS:C1864298 hp.json Overgrowth of calf bone http://purl.obolibrary.org/obo/HP_0003099 HP:0003097 biolink:PhenotypicFeature Short femur An abnormal shortening of the femur. SNOMEDCT_US:93255008|UMLS:C0345375 hp.json Hypoplasia of the femora|Short femurs|Femoral hypoplasia|Short thighbone http://purl.obolibrary.org/obo/HP_0003097 hposlim_core CHEBI:22744 biolink:ChemicalSubstance benzyl group hp.json Bn|phenylalanine side-chain|phenylmethyl|benzyl|C6H5-CH2- http://purl.obolibrary.org/obo/CHEBI_22744 3_STAR HP:0030613 biolink:PhenotypicFeature Abnormal foveal morphology on macular OCT UMLS:C4073083 hp.json http://purl.obolibrary.org/obo/HP_0030613 HP:0030614 biolink:PhenotypicFeature Foveal photoreceptor layer loss on macular OCT UMLS:C4073084 hp.json http://purl.obolibrary.org/obo/HP_0030614 UBERON:0005594 biolink:AnatomicalEntity head somite Somite located in the head region, caudal to the otic vesicle. XAO:0000313|EHDAA2:0003437|EMAPA:16172 hp.json occipital somite|cranial somite|occipital somite http://purl.obolibrary.org/obo/UBERON_0005594 HP:0005648 biolink:PhenotypicFeature Bilateral ulnar hypoplasia Underdevelopment of the ulna on both sides. UMLS:C4025166 hp.json http://purl.obolibrary.org/obo/HP_0005648 HP:0030615 biolink:PhenotypicFeature Foveal photoreceptor outer segment loss on macular OCT UMLS:C4073085 hp.json http://purl.obolibrary.org/obo/HP_0030615 HP:0030616 biolink:PhenotypicFeature Foveal retinal pigment epithelial loss on macular OCT UMLS:C4073086 hp.json http://purl.obolibrary.org/obo/HP_0030616 HP:0005643 biolink:PhenotypicFeature Short 3rd toe Underdevelopment (hypoplasia) of the third toe. UMLS:C4021628 hp.json Brachydactyly of third toes|Short third toe|Short 3rd toe http://purl.obolibrary.org/obo/HP_0005643 HP:0030610 biolink:PhenotypicFeature Photoreceptor outer segment loss on macular OCT UMLS:C4073080 hp.json http://purl.obolibrary.org/obo/HP_0030610 HGNC:4191 biolink:Gene GCG (human) A protein coding gene GCG in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4191 HP:0030611 biolink:PhenotypicFeature Retinal pigment epithelial loss on macular OCT UMLS:C4073081 hp.json http://purl.obolibrary.org/obo/HP_0030611 HP:0005645 biolink:PhenotypicFeature Intervertebral disk calcification The presence of abnormal calcium deposition of the intervertebral disk. SNOMEDCT_US:240211000|UMLS:C0410607 hp.json Multiple intervertebral disk calcifications|Intervertebral disc calcification|Multiple intervertebral disc calcifications http://purl.obolibrary.org/obo/HP_0005645 hposlim_core HP:0030612 biolink:PhenotypicFeature Abnormal retinal morphology on macular OCT UMLS:C4073082 hp.json http://purl.obolibrary.org/obo/HP_0030612 HP:0005640 biolink:PhenotypicFeature Abnormal vertebral segmentation and fusion UMLS:C4025167 hp.json http://purl.obolibrary.org/obo/HP_0005640 HP:0030617 biolink:PhenotypicFeature Abnormal OCT-measured foveal thickness UMLS:C4073087 hp.json http://purl.obolibrary.org/obo/HP_0030617 HP:0030618 biolink:PhenotypicFeature Increased OCT-measured foveal thickness UMLS:C4073088 hp.json http://purl.obolibrary.org/obo/HP_0030618 UBERON:0005598 biolink:AnatomicalEntity trunk somite A somite that is part of a trunk. XAO:0000314|EHDAA2:0003438|EMAPA:16184|AAO:0010385 hp.json http://purl.obolibrary.org/obo/UBERON_0005598 HP:0030619 biolink:PhenotypicFeature Reduced OCT-measured foveal thickness UMLS:C4073089 hp.json http://purl.obolibrary.org/obo/HP_0030619 UBERON:0005597 biolink:AnatomicalEntity lung primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. EMAPA:36007|XAO:0001002|AAO:0011059|EFO:0002578 hp.json lung diverticulum|lung endoderm|lateral diverticula http://purl.obolibrary.org/obo/UBERON_0005597 efo_slim CHEBI:46701 biolink:ChemicalSubstance pyrrolidinemonocarboxylic acid hp.json pyrrolidinemonocarboxylic acids http://purl.obolibrary.org/obo/CHEBI_46701 3_STAR HP:0030624 biolink:PhenotypicFeature Subretinal hyporeflective spaces on macular OCT UMLS:C4073094 hp.json http://purl.obolibrary.org/obo/HP_0030624 HP:0030625 biolink:PhenotypicFeature Hyporeflective spaces on macular OCT UMLS:C4073095 hp.json http://purl.obolibrary.org/obo/HP_0030625 HP:0005659 biolink:PhenotypicFeature Thoracic kyphoscoliosis UMLS:C4015465 hp.json http://purl.obolibrary.org/obo/HP_0005659 HP:0030626 biolink:PhenotypicFeature Foveal intraretinal hyporeflective spaces on macular OCT UMLS:C4073096 hp.json http://purl.obolibrary.org/obo/HP_0030626 HP:0030627 biolink:PhenotypicFeature Foveal hyporeflective spaces on macular OCT UMLS:C4073097 hp.json http://purl.obolibrary.org/obo/HP_0030627 HP:0005653 biolink:PhenotypicFeature Moderate generalized osteoporosis Moderate osteoporosis. UMLS:C4025163 hp.json Moderate generalised osteoporosis http://purl.obolibrary.org/obo/HP_0005653 HP:0030620 biolink:PhenotypicFeature Inner retinal layer loss on macular OCT UMLS:C4073090 hp.json http://purl.obolibrary.org/obo/HP_0030620 HP:0030621 biolink:PhenotypicFeature Foveal inner retinal layer loss on macular OCT UMLS:C4073091 hp.json http://purl.obolibrary.org/obo/HP_0030621 HP:0005655 biolink:PhenotypicFeature Multiple digital exostoses Multiple exostoses originating in the fingers and toes. UMLS:C4025162 hp.json http://purl.obolibrary.org/obo/HP_0005655 HP:0030622 biolink:PhenotypicFeature Abnormal foveal pit on macular OCT UMLS:C4073092 hp.json http://purl.obolibrary.org/obo/HP_0030622 HP:0005656 biolink:PhenotypicFeature Positional foot deformity A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. UMLS:C4025161 hp.json http://purl.obolibrary.org/obo/HP_0005656 HP:0030623 biolink:PhenotypicFeature Intraretinal hyporeflective spaces on macular OCT UMLS:C4073093 hp.json http://purl.obolibrary.org/obo/HP_0030623 HP:0005650 biolink:PhenotypicFeature 2-5 finger cutaneous syndactyly A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. UMLS:C4025165 hp.json Cutaneous syndactyly between fingers 2 and 5 http://purl.obolibrary.org/obo/HP_0005650 HP:0005652 biolink:PhenotypicFeature Cortical sclerosis Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. UMLS:C4025164 hp.json http://purl.obolibrary.org/obo/HP_0005652 HP:0030628 biolink:PhenotypicFeature Foveal subretinal hyporeflective spaces on macular OCT UMLS:C4073098 hp.json http://purl.obolibrary.org/obo/HP_0030628 HP:0030629 biolink:PhenotypicFeature Perifoveal ring of hyperautofluorescence UMLS:C4073099 hp.json http://purl.obolibrary.org/obo/HP_0030629 HP:0030630 biolink:PhenotypicFeature Irregular central macular autofluorescence UMLS:C4073100 hp.json http://purl.obolibrary.org/obo/HP_0030630 HGNC:4164 biolink:Gene GAST (human) A protein coding gene GAST in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4164 HP:0030635 biolink:PhenotypicFeature Retinal dystrophy with early macular involvement UMLS:C4049066 hp.json http://purl.obolibrary.org/obo/HP_0030635 HP:0005625 biolink:PhenotypicFeature Osteoporosis of vertebrae Osteoporosis affecting predominantly the vertebrae. UMLS:C4025170 hp.json http://purl.obolibrary.org/obo/HP_0005625 HP:0030636 biolink:PhenotypicFeature Occult macular dystrophy Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. hp.json http://purl.obolibrary.org/obo/HP_0030636 HP:0030637 biolink:PhenotypicFeature Congenital stationary cone dysfunction Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. UMLS:C0543968 hp.json Cone dysfunction syndrome|Cone dysfunction http://purl.obolibrary.org/obo/HP_0030637 HP:0005626 biolink:PhenotypicFeature Posterior fusion of lumbosacral vertebrae Bony fusion of the posterior part of the L5 vertebral body with the sacrum. UMLS:C4025169 hp.json http://purl.obolibrary.org/obo/HP_0005626 HP:0030638 biolink:PhenotypicFeature Congenital stationary night blindness with normal fundus UMLS:C4073105 hp.json http://purl.obolibrary.org/obo/HP_0030638 HP:0005627 biolink:PhenotypicFeature Type D brachydactyly This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. MSH:C562420|UMLS:C0220664 hp.json Brachydactyly type D http://purl.obolibrary.org/obo/HP_0005627 HP:0005620 biolink:PhenotypicFeature Hypermobility of interphalangeal joints The ability of the interphalangeal joints to move beyond their normal range of motion. UMLS:C4025172 hp.json Increased mobility of hinge joints http://purl.obolibrary.org/obo/HP_0005620 HP:0030631 biolink:PhenotypicFeature Hyperautofluorescent macular lesion Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. UMLS:C4073101 hp.json http://purl.obolibrary.org/obo/HP_0030631 HP:0030632 biolink:PhenotypicFeature Hypoautofluorescent macular lesion Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. UMLS:C4073102 hp.json Hypo-autofluorescent macular lesion http://purl.obolibrary.org/obo/HP_0030632 HP:0005621 biolink:PhenotypicFeature Trapezoidal vertebral body An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side. UMLS:C4025171 hp.json Trapezoidal vertebral bodies|Trapezoidal shaped vertebral bodies http://purl.obolibrary.org/obo/HP_0005621 HP:0030633 biolink:PhenotypicFeature Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence UMLS:C4073103 hp.json http://purl.obolibrary.org/obo/HP_0030633 HP:0005622 biolink:PhenotypicFeature Broad long bones Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. UMLS:C4021630 hp.json Broad long bones|Wide long bones|Widened long bones http://purl.obolibrary.org/obo/HP_0005622 HP:0005623 biolink:PhenotypicFeature Absent ossification of calvaria Absent ossification of the calvaria (vault of the skull). UMLS:C4021629 hp.json Absent bone maturation of skullcap|Absent ossification of skull vault http://purl.obolibrary.org/obo/HP_0005623 HP:0030634 biolink:PhenotypicFeature Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence UMLS:C4073104 hp.json http://purl.obolibrary.org/obo/HP_0030634 CHEBI:22723 biolink:ChemicalSubstance benzoic acids Any aromatic carboxylic acid that consists of benzene in which at least a single hydrogen has been substituted by a carboxy group. hp.json http://purl.obolibrary.org/obo/CHEBI_22723 3_STAR HP:0030639 biolink:PhenotypicFeature Congenital stationary night blindness with abnormal fundus UMLS:C4073106 hp.json http://purl.obolibrary.org/obo/HP_0030639 CHEBI:22727 biolink:ChemicalSubstance benzopyran Wikipedia:Benzopyran hp.json benzopyrans http://purl.obolibrary.org/obo/CHEBI_22727 3_STAR CHEBI:22728 biolink:ChemicalSubstance benzopyrrole hp.json benzopyrroles http://purl.obolibrary.org/obo/CHEBI_22728 3_STAR HP:0030640 biolink:PhenotypicFeature Complete congenital stationary night blindness UMLS:C4048798 hp.json http://purl.obolibrary.org/obo/HP_0030640 HP:0030641 biolink:PhenotypicFeature Incomplete congenital stationary night blindness UMLS:C4073107 hp.json http://purl.obolibrary.org/obo/HP_0030641 HP:0005639 biolink:PhenotypicFeature Hyperextensible hand joints The ability of the joints of the hand to move beyond their normal range of motion. UMLS:C1856877 hp.json http://purl.obolibrary.org/obo/HP_0005639 UBERON:0005563 biolink:AnatomicalEntity trigeminal neural crest Cranial neural crest which gives rise to the trigeminal ganglion. VHOG:0000269|EMAPA:16170|ZFA:0000080|EFO:0003484|TAO:0000080|EHDAA2:0002083|EHDAA:667 hp.json http://purl.obolibrary.org/obo/UBERON_0005563 efo_slim|vertebrate_core HP:0030646 biolink:PhenotypicFeature Peripheral UMLS:C0205100|SNOMEDCT_US:14414005 hp.json http://purl.obolibrary.org/obo/HP_0030646 UBERON:0005562 biolink:AnatomicalEntity thymus primordium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. TAO:0001077|EFO:0003622|EHDAA2:0002023|EHDAA:2969|EMAPA:17523|ZFA:0001077 hp.json thymic primordium|thymic rudiment http://purl.obolibrary.org/obo/UBERON_0005562 efo_slim|vertebrate_core HP:0030647 biolink:PhenotypicFeature Paracentral UMLS:C4073110 hp.json http://purl.obolibrary.org/obo/HP_0030647 HP:0030648 biolink:PhenotypicFeature Midperipheral UMLS:C4073111 hp.json Mid-peripheral http://purl.obolibrary.org/obo/HP_0030648 HP:0030649 biolink:PhenotypicFeature Pericentral UMLS:C4073112 hp.json http://purl.obolibrary.org/obo/HP_0030649 HP:0005638 biolink:PhenotypicFeature Decreased anterioposterior diameter of lumbar vertebral bodies UMLS:C4025168 hp.json http://purl.obolibrary.org/obo/HP_0005638 HP:0030642 biolink:PhenotypicFeature Fundus albipunctatus MSH:C562733|SNOMEDCT_US:68222009|UMLS:C0311338 hp.json http://purl.obolibrary.org/obo/HP_0030642 HP:0005632 biolink:PhenotypicFeature Absent forearm UMLS:C1408532 hp.json Absent forearm|Absent forearms http://purl.obolibrary.org/obo/HP_0005632 HP:0030643 biolink:PhenotypicFeature Vitelliform-like retinal lesions UMLS:C4073108 hp.json http://purl.obolibrary.org/obo/HP_0030643 HP:0030644 biolink:PhenotypicFeature Blind-spot enlargment UMLS:C4073109 hp.json Blind spot enlargment http://purl.obolibrary.org/obo/HP_0030644 HP:0030645 biolink:PhenotypicFeature Central Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. UMLS:C0205099|SNOMEDCT_US:26216008 hp.json http://purl.obolibrary.org/obo/HP_0030645 UBERON:0005568 biolink:AnatomicalEntity rhombomere 1 roof plate A rhombomere roof plate that is part of a rhombomere 1. ZFA:0001033|EMAPA:16483|DMBA:16916|TAO:0001033|EHDAA2:0001645 hp.json roof plate rhombomere 1 http://purl.obolibrary.org/obo/UBERON_0005568 vertebrate_core UBERON:0005567 biolink:AnatomicalEntity rhombomere 1 lateral wall A rhombomere lateral wall that is part of a rhombomere 1. EHDAA2:0001641|EMAPA:16482|TAO:0000781|ZFA:0000781 hp.json lateral wall rhombomere 1 http://purl.obolibrary.org/obo/UBERON_0005567 vertebrate_core UBERON:0005565 biolink:AnatomicalEntity facio-acoustic neural crest Cranial neural crest that gives rise to the facio-acoustic ganglion. EHDAA2:0000492|VHOG:0000268|EHDAA:658|EMAPA:16312|ZFA:0000762|TAO:0000762 hp.json facio acoustic neural crest http://purl.obolibrary.org/obo/UBERON_0005565 vertebrate_core UBERON:0005564 biolink:AnatomicalEntity gonad primordium Portion of tissue that gives rise to the immature gonad. ZFA:0001262|TAO:0001262|EFO:0003651|EHDAA:5927|RETIRED_EHDAA2:0002148|EMAPA:17204|WBbt:0008366 hp.json primitive gonad|immature gonad|primitive gonad|immature gonad|future gonad|future gonad|undifferentiated gonad|gonadal primordium http://purl.obolibrary.org/obo/UBERON_0005564 efo_slim|vertebrate_core|grouping_class NCBITaxon:9989 biolink:OrganismalEntity Rodentia GC_ID:1 hp.json rodent|rodents http://purl.obolibrary.org/obo/NCBITaxon_9989 HP:0003027 biolink:PhenotypicFeature Mesomelia Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. UMLS:C0549306 hp.json Mesomelic shortening of limbs|Mesomelic limb shortening|Symmetric mesomelic limb shortness|Disproportionately short middle portion of limb http://purl.obolibrary.org/obo/HP_0003027 HP:0003026 biolink:PhenotypicFeature Short long bone One or more abnormally short long bone. UMLS:C1854912 hp.json Long bone shortening|Short long bone|Short tubular bones|shortened long tubular bones http://purl.obolibrary.org/obo/HP_0003026 HP:0003025 biolink:PhenotypicFeature Metaphyseal irregularity Irregularity of the normally smooth surface of the metaphyses. UMLS:C1838662 hp.json Frayed, irregular metaphyses|Metaphyseal fraying|Frayed, irregular, metaphyses|Irregular wide portion of a long bone|Irregular metaphyses|Metaphyseal irregularities http://purl.obolibrary.org/obo/HP_0003025 HP:0005686 biolink:PhenotypicFeature Patchy osteosclerosis Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C1855845 hp.json Patchy increase of bone mineral density|Uneven increase in bone density http://purl.obolibrary.org/obo/HP_0005686 HP:0005687 biolink:PhenotypicFeature Deformed humeral heads UMLS:C4025154 hp.json Deformed head of long bone in upper arm http://purl.obolibrary.org/obo/HP_0005687 HP:0005688 biolink:PhenotypicFeature Dysplastic distal thumb phalanges with a central hole UMLS:C4025153 hp.json http://purl.obolibrary.org/obo/HP_0005688 HP:0003029 biolink:PhenotypicFeature Enlargement of the ankles UMLS:C1838664 hp.json Enlargement of the ankles http://purl.obolibrary.org/obo/HP_0003029 HP:0003028 biolink:PhenotypicFeature Abnormality of the ankles UMLS:C4025660 hp.json Abnormality of the ankles http://purl.obolibrary.org/obo/HP_0003028 hposlim_core HP:0005689 biolink:PhenotypicFeature Dermatoglyphic ridges abnormal UMLS:C4025152 hp.json http://purl.obolibrary.org/obo/HP_0005689 HP:0005682 biolink:PhenotypicFeature Talocalcaneal synostosis UMLS:C4255214|UMLS:C4025155 hp.json Fusion of foot joint|Fusion of the subtalar joint http://purl.obolibrary.org/obo/HP_0005682 HP:0005684 biolink:PhenotypicFeature Distal arthrogryposis An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. UMLS:C0265213|SNOMEDCT_US:24269006 hp.json http://purl.obolibrary.org/obo/HP_0005684 HP:0003023 biolink:PhenotypicFeature Bowing of limbs due to multiple fractures Curvature of the shafts of the long bones due to multiple fractures. UMLS:C1850178 hp.json Bowed limbs due to multiple fractures http://purl.obolibrary.org/obo/HP_0003023 HP:0003022 biolink:PhenotypicFeature Hypoplasia of the ulna Underdevelopment of the ulna. UMLS:C1862132|MSH:C538069|UMLS:C1860614 hp.json Hypoplastic ulna|Short ulnae|Underdeveloped ulna|Ulnar hypoplasia|Short ulna|Underdeveloped inner large forearm bone http://purl.obolibrary.org/obo/HP_0003022 hposlim_core HP:0003021 biolink:PhenotypicFeature Metaphyseal cupping Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. UMLS:C1837082 hp.json http://purl.obolibrary.org/obo/HP_0003021 HP:0005680 biolink:PhenotypicFeature Tongue-like lumbar vertebral deformities A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. UMLS:C4025156 hp.json http://purl.obolibrary.org/obo/HP_0005680 HP:0003020 biolink:PhenotypicFeature Enlargement of the wrists UMLS:C1838663 hp.json Enlargement of the wrists http://purl.obolibrary.org/obo/HP_0003020 HP:0005681 biolink:PhenotypicFeature Juvenile rheumatoid arthritis SNOMEDCT_US:410795001|UMLS:C3714757 hp.json Juvenile idiopathic arthritis|Rheumatoid arthritis, juvenile|Juvenile RA http://purl.obolibrary.org/obo/HP_0005681 HP:0003038 biolink:PhenotypicFeature Fibular hypoplasia Underdevelopment of the fibula. UMLS:C1832119 hp.json Hypoplastic fibula|Short fibulae|Short calf bone|Short fibula http://purl.obolibrary.org/obo/HP_0003038 hposlim_core HP:0003037 biolink:PhenotypicFeature Enlarged joints Increase in size of one or more joints. UMLS:C1859111 hp.json Prominent joints|Enlarged joints http://purl.obolibrary.org/obo/HP_0003037 hposlim_core HP:0005694 biolink:PhenotypicFeature Partial fusion of proximal row of carpal bones UMLS:C3152021 hp.json Partial fusion of innermost row of wrist bones http://purl.obolibrary.org/obo/HP_0005694 CHEBI:22712 biolink:ChemicalSubstance benzenes Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives. hp.json http://purl.obolibrary.org/obo/CHEBI_22712 3_STAR HP:0005696 biolink:PhenotypicFeature Postaxial polydactyly type A Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. UMLS:C3887487|MSH:C562429|SNOMEDCT_US:715704001 hp.json http://purl.obolibrary.org/obo/HP_0005696 HP:0003034 biolink:PhenotypicFeature Diaphyseal sclerosis An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. SNOMEDCT_US:34643004|MSH:D003966|UMLS:C0011989|SNOMEDCT_US:318761000119105 hp.json Craniodiaphyseal osteosclerosis|Increased bone density in shaft of long bone|Diaphyseal osteosclerosis http://purl.obolibrary.org/obo/HP_0003034 CHEBI:22718 biolink:ChemicalSubstance benzoates A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid. hp.json benzoate anion http://purl.obolibrary.org/obo/CHEBI_22718 3_STAR HP:0003031 biolink:PhenotypicFeature Ulnar bowing Bending of the diaphysis (shaft) of the ulna. UMLS:C1865847 hp.json Curved ulna|Bowed ulna|Curving of inner forearm bone http://purl.obolibrary.org/obo/HP_0003031 hposlim_core HP:0005692 biolink:PhenotypicFeature Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles. UMLS:C3553764 hp.json Joints move beyond expected range of motion http://purl.obolibrary.org/obo/HP_0005692 HP:0003005 biolink:PhenotypicFeature Ganglioneuroma A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. MSH:D005729|SNOMEDCT_US:116371000119107|SNOMEDCT_US:53801007|UMLS:C0017075|SNOMEDCT_US:128919000 hp.json http://purl.obolibrary.org/obo/HP_0003005 HP:0003003 biolink:PhenotypicFeature Colon cancer MSH:D003110|SNOMEDCT_US:363406005|UMLS:C0007102 hp.json Colon cancer http://purl.obolibrary.org/obo/HP_0003003 HP:0003002 biolink:PhenotypicFeature Breast carcinoma The presence of a carcinoma of the breast. NCIT:C2916|MSH:D001943|UMLS:C0678222|SNOMEDCT_US:254838004 hp.json Breast cancer http://purl.obolibrary.org/obo/HP_0003002 HP:0003009 biolink:PhenotypicFeature Enhanced neurotoxicity of vincristine UMLS:C4025661 hp.json http://purl.obolibrary.org/obo/HP_0003009 HP:0005665 biolink:PhenotypicFeature Massively thickened long bone cortices Extreme thickening of the cortex of long bones. UMLS:C4025160 hp.json http://purl.obolibrary.org/obo/HP_0005665 HP:0003006 biolink:PhenotypicFeature Neuroblastoma Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. SNOMEDCT_US:432328008|MSH:D009447|SNOMEDCT_US:87364003|UMLS:C0027819|NCIT:C3270 hp.json Cancer of early nerve cells http://purl.obolibrary.org/obo/HP_0003006 HP:0005667 biolink:PhenotypicFeature Os odontoideum Separation of the odontoid process from the body of the axis. SNOMEDCT_US:445242006|UMLS:C2919848 hp.json http://purl.obolibrary.org/obo/HP_0005667 HP:0005661 biolink:PhenotypicFeature Salmonella osteomyelitis Osteomyelitis caused by infection with the bacteria, salmonella. SNOMEDCT_US:6803002|UMLS:C0152491 hp.json Salmonella bone infection http://purl.obolibrary.org/obo/HP_0005661 HP:0003001 biolink:PhenotypicFeature Glomus jugular tumor SNOMEDCT_US:32037004|SNOMEDCT_US:127030001|MSH:D005925|UMLS:C0017671 hp.json Glomus jugular tumour|Glomus jugulare tumours|Glomus jugulare tumors|Glomus jugulare tumour|Glomus jugulare tumor http://purl.obolibrary.org/obo/HP_0003001 HP:0003016 biolink:PhenotypicFeature Metaphyseal widening Abnormal widening of the metaphyseal regions of long bones. UMLS:C1849039 hp.json Widened metaphyses|Widened long bone metaphyses|Wide metaphyses|Broad wide portion of long bone http://purl.obolibrary.org/obo/HP_0003016 HP:0005679 biolink:PhenotypicFeature Dupuytren contracture An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints. SNOMEDCT_US:274142002|UMLS:C0013312|MSH:D004387|SNOMEDCT_US:203047009|SNOMEDCT_US:410813000|SNOMEDCT_US:203045001 hp.json http://purl.obolibrary.org/obo/HP_0005679 GO:0045905 biolink:BiologicalProcess positive regulation of translational termination Any process that activates or increases the frequency, rate or extent of translational termination. hp.json activation of translational termination|stimulation of translational termination|upregulation of translational termination|up-regulation of translational termination|up regulation of translational termination http://purl.obolibrary.org/obo/GO_0045905 HP:0030602 biolink:PhenotypicFeature Abnormal fundus autofluorescence imaging Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. UMLS:C4073073 hp.json http://purl.obolibrary.org/obo/HP_0030602 HP:0003015 biolink:PhenotypicFeature Flared metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. UMLS:C1850135 hp.json Metaphyseal flaring of long bones|Flared, widened metaphyses|Flared wide portion of long bone|marked metaphyseal flaring of long bones|Metaphyseal flaring|Metaphyseal splaying|Metaphyses flared|Splayed metaphyses http://purl.obolibrary.org/obo/HP_0003015 HP:0030603 biolink:PhenotypicFeature Abnormal optical coherence tomography UMLS:C3665728 hp.json http://purl.obolibrary.org/obo/HP_0030603 HP:0030604 biolink:PhenotypicFeature Abnormal fundus fluorescein angiography An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation. UMLS:C4073074 hp.json http://purl.obolibrary.org/obo/HP_0030604 PATO:0050000 biolink:NamedThing rate of occurence The number of repeated events per unit time, occurring in a repeating series. (e.g. the number of heart beats occurring over 1 minute) hp.json http://purl.obolibrary.org/obo/PATO_0050000 HP:0003013 biolink:PhenotypicFeature Bulging epiphyses A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). UMLS:C1833329 hp.json Bulging end part of bone http://purl.obolibrary.org/obo/HP_0003013 GO:0045904 biolink:BiologicalProcess negative regulation of translational termination Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination. hp.json down-regulation of translational termination|down regulation of translational termination|inhibition of translational termination|downregulation of translational termination http://purl.obolibrary.org/obo/GO_0045904 HP:0030605 biolink:PhenotypicFeature Abnormal indocyanine green angiography UMLS:C4073075 hp.json http://purl.obolibrary.org/obo/HP_0030605 GO:0045901 biolink:BiologicalProcess positive regulation of translational elongation Any process that activates or increases the frequency, rate or extent of translational elongation. hp.json upregulation of translational elongation|up regulation of translational elongation|stimulation of translational elongation|activation of translational elongation|up-regulation of translational elongation http://purl.obolibrary.org/obo/GO_0045901 HP:0003019 biolink:PhenotypicFeature Abnormality of the wrist Abnormality of the wrist, the structure connecting the hand and the forearm. UMLS:C4021744 hp.json Abnormality of the wrist|Abnormalities of the wrists http://purl.obolibrary.org/obo/HP_0003019 hposlim_core HP:0005676 biolink:PhenotypicFeature Rudimentary postaxial polydactyly of hands UMLS:C4025158 hp.json http://purl.obolibrary.org/obo/HP_0005676 GO:0045900 biolink:BiologicalProcess negative regulation of translational elongation Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation. hp.json downregulation of translational elongation|down regulation of translational elongation|inhibition of translational elongation|down-regulation of translational elongation http://purl.obolibrary.org/obo/GO_0045900 HP:0005678 biolink:PhenotypicFeature Anterior atlanto-occipital dislocation UMLS:C4025157 hp.json http://purl.obolibrary.org/obo/HP_0005678 HP:0030601 biolink:PhenotypicFeature Abnormal posterior segment imaging UMLS:C4073072 hp.json http://purl.obolibrary.org/obo/HP_0030601 HP:0005671 biolink:PhenotypicFeature Bilateral intracerebral calcifications Deposition of calcium salts on both sides of the brain. UMLS:C4025159 hp.json Bilateral intracranial calcifications http://purl.obolibrary.org/obo/HP_0005671 HP:0030606 biolink:PhenotypicFeature Abnormal OCT-measured macular thickness UMLS:C4073076 hp.json http://purl.obolibrary.org/obo/HP_0030606 HP:0030607 biolink:PhenotypicFeature Reduced OCT-measured macular thickness UMLS:C4073077 hp.json http://purl.obolibrary.org/obo/HP_0030607 HP:0003011 biolink:PhenotypicFeature Abnormality of the musculature Abnormality originating in one or more muscles, i.e., of the set of muscles of body. UMLS:C4021745 hp.json Muscular abnormality http://purl.obolibrary.org/obo/HP_0003011 HP:0003010 biolink:PhenotypicFeature Prolonged bleeding time Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. UMLS:C0151529 hp.json Increased bleeding time|Prolonged bleeding time http://purl.obolibrary.org/obo/HP_0003010 HP:0030608 biolink:PhenotypicFeature Increased OCT-measured macular thickness UMLS:C4073078 hp.json http://purl.obolibrary.org/obo/HP_0030608 HP:0030609 biolink:PhenotypicFeature Photoreceptor layer loss on macular OCT Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. UMLS:C4073079 hp.json http://purl.obolibrary.org/obo/HP_0030609 GO:0043292 biolink:CellularComponent contractile fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. hp.json contractile fibre http://purl.obolibrary.org/obo/GO_0043292 CHEBI:19168 biolink:ChemicalSubstance 17-oxo steroid Any oxo steroid carrying the oxo group at position 17. hp.json 17-keto steroid|17-oxo steroids|17-oxosteroids|17-ketosteroids|17-ketosteroid|17-oxosteroid|17-keto steroids|a 17-oxo steroid http://purl.obolibrary.org/obo/CHEBI_19168 3_STAR CHEBI:46787 biolink:ChemicalSubstance solvent A liquid that can dissolve other substances (solutes) without any change in their chemical composition. Wikipedia:Solvent hp.json solvant|solvents|Loesungsmittel http://purl.obolibrary.org/obo/CHEBI_46787 3_STAR HGNC:4116 biolink:Gene GALE (human) A protein coding gene GALE in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4116 UBERON:0005502 biolink:AnatomicalEntity rhombomere roof plate EMAPA:35367|ZFA:0001311|EMAPA:32824|TAO:0001311|VHOG:0001018 hp.json future hindbrain roof plate|roof plate rhombomeres|roof plate rhombomere|roof plate hindbrain|roof plate rhombomere region http://purl.obolibrary.org/obo/UBERON_0005502 UBERON:0005501 biolink:AnatomicalEntity rhombomere lateral wall A neural tube lateral wall that is part of a rhombomere. EMAPA:32819|EMAPA:35364 hp.json future hindbrain lateral wall http://purl.obolibrary.org/obo/UBERON_0005501 CHEBI:46775 biolink:ChemicalSubstance N-alkylpyrrolidine hp.json N-alkylpyrrolidines http://purl.obolibrary.org/obo/CHEBI_46775 3_STAR UBERON:0029503 biolink:AnatomicalEntity sacral spinal cord gray matter BIRNLEX:1491 hp.json sacral spinal cord gray matter|sacral spinal cord gray matter http://purl.obolibrary.org/obo/UBERON_0029503 CHEBI:46761 biolink:ChemicalSubstance dipeptide Any molecule that contains two amino-acid residues connected by peptide linkages. KEGG:C00107 hp.json Dipeptid|Dipeptide|dipeptides http://purl.obolibrary.org/obo/CHEBI_46761 3_STAR CHEBI:46767 biolink:ChemicalSubstance pyrrolidinecarboxylic acid hp.json pyrrolidinecarboxylic acids http://purl.obolibrary.org/obo/CHEBI_46767 3_STAR GO:0021915 biolink:BiologicalProcess neural tube development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. hp.json http://purl.obolibrary.org/obo/GO_0021915 PATO:0001018 biolink:NamedThing physical quality A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. Wikipedia:Physical_property hp.json relational physical quality http://purl.obolibrary.org/obo/PATO_0001018 attribute_slim HP:0005606 biolink:PhenotypicFeature Hyperpigmented nevi and streak UMLS:C3805692 hp.json http://purl.obolibrary.org/obo/HP_0005606 HP:0005607 biolink:PhenotypicFeature Abnormal tracheobronchial morphology Fyler:4232|UMLS:C4021631 hp.json Tracheobronchial anomalies http://purl.obolibrary.org/obo/HP_0005607 PATO:0001019 biolink:NamedThing mass density A physical quality which inheres in a bearer by virtue of some influence is exerted by the bearer's mass per unit size. hp.json density http://purl.obolibrary.org/obo/PATO_0001019 scalar_slim|attribute_slim HP:0005608 biolink:PhenotypicFeature Bilobate gallbladder The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. UMLS:C1846422 hp.json Gallbladder duplication|Bilobed gallbladder|Double gallbladder http://purl.obolibrary.org/obo/HP_0005608 HP:0005609 biolink:PhenotypicFeature Gallbladder dysfunction SNOMEDCT_US:51047007|UMLS:C0232769 hp.json Gallbladder dysfunction http://purl.obolibrary.org/obo/HP_0005609 GO:0021905 biolink:BiologicalProcess forebrain-midbrain boundary formation The process whose specific outcome is the creation of the forebrain-midbrain boundary. hp.json http://purl.obolibrary.org/obo/GO_0021905 HP:0005602 biolink:PhenotypicFeature Progressive vitiligo UMLS:C3806428 hp.json http://purl.obolibrary.org/obo/HP_0005602 GO:0021906 biolink:BiologicalProcess hindbrain-spinal cord boundary formation The process whose specific outcome is the formation of the hindbrain-spinal cord boundary. hp.json http://purl.obolibrary.org/obo/GO_0021906 HP:0005603 biolink:PhenotypicFeature Numerous congenital melanocytic nevi UMLS:C3806415 hp.json http://purl.obolibrary.org/obo/HP_0005603 HP:0005605 biolink:PhenotypicFeature Large cafe-au-lait macules with irregular margins Large hypermelanotic macules with jagged borders. UMLS:C4025174 hp.json http://purl.obolibrary.org/obo/HP_0005605 HP:0005600 biolink:PhenotypicFeature Congenital giant melanocytic nevus The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. MSH:C536819|SNOMEDCT_US:10291008|SNOMEDCT_US:254815002|UMLS:C1842036 hp.json Giant pigmented hairy nevus|Giant pigmented mole|Giant pigmented nevus http://purl.obolibrary.org/obo/HP_0005600 GO:0021903 biolink:BiologicalProcess rostrocaudal neural tube patterning The process in which the neural tube is divided into specific regions along the rostrocaudal axis. hp.json anterior-posterior neural tube patterning http://purl.obolibrary.org/obo/GO_0021903 HP:0005617 biolink:PhenotypicFeature Bilateral camptodactyly UMLS:C4021830 hp.json http://purl.obolibrary.org/obo/HP_0005617 HP:0005619 biolink:PhenotypicFeature Thoracolumbar kyphosis Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. UMLS:C1855418 hp.json Thoracolumbar gibbus deformity|Thoracolumbar gibbus http://purl.obolibrary.org/obo/HP_0005619 HP:0005613 biolink:PhenotypicFeature Aplasia/hypoplasia of the femur Absence or underdevelopment of the femur. UMLS:C1851310 hp.json Absent/small thighbone|Hypoplastic to absent femora|Hypoplastic/aplastic femora|Absent/underdeveloped thighbone http://purl.obolibrary.org/obo/HP_0005613 PATO:0001020 biolink:NamedThing damage A structural quality inhering in a bearer by virtue of whether the bearer has been harmed or injured or spoiled. hp.json http://purl.obolibrary.org/obo/PATO_0001020 attribute_slim HP:0005616 biolink:PhenotypicFeature Accelerated skeletal maturation An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. UMLS:C0545053|SNOMEDCT_US:123982003 hp.json Advanced bone age|Early bone maturation http://purl.obolibrary.org/obo/HP_0005616 PATO:0001025 biolink:NamedThing pressure A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. hp.json http://purl.obolibrary.org/obo/PATO_0001025 attribute_slim HP:0005612 biolink:PhenotypicFeature Arthrogryposis-like hand anomaly UMLS:C4025173 hp.json http://purl.obolibrary.org/obo/HP_0005612 PATO:0001031 biolink:NamedThing elasticity A physical quality inhering in a bearer by virtue of the bearer's disposition to recover its size and shape after deformation in any way. hp.json http://purl.obolibrary.org/obo/PATO_0001031 scalar_slim|disposition_slim|attribute_slim CHEBI:20106 biolink:ChemicalSubstance vanillylmandelic acid An aromatic ether that is the 3-O-methyl ether of 3,4-dihydroxymandelic acid. CAS:55-10-7|PMID:24327171|CAS:55-10-7|HMDB:HMDB0000291|PMID:23399766|PMID:13756637|MetaCyc:VANILLYL_MANDELATE|Beilstein:2213227|Reaxys:2213227|PMID:23830883|KEGG:C05584|PMID:23112240|Wikipedia:Vanillylmandelic_acid hp.json hydroxy(4-hydroxy-3-methoxyphenyl)acetic acid|Vanillylmandelic acid|Vanilmandelic acid|2-hydroxy-2-(4-hydroxy-3-methoxyphenyl)acetic acid|3-methoxy-4-hydroxymandelic acid http://purl.obolibrary.org/obo/CHEBI_20106 3_STAR CHEBI:46723 biolink:ChemicalSubstance phosphate mineral hp.json http://purl.obolibrary.org/obo/CHEBI_46723 PATO:0001043 biolink:NamedThing susceptibility toward A quality inhering in an entity by virtue of the bearer's propensity to resist an external stimulus. hp.json susceptibility http://purl.obolibrary.org/obo/PATO_0001043 disposition_slim|relational_slim|attribute_slim PATO:0001046 biolink:NamedThing resistance to A quality inhering in a bearer by virtue of the bearer's disposition to resist to a stimulus. hp.json resistance http://purl.obolibrary.org/obo/PATO_0001046 scalar_slim|disposition_slim|relational_slim|attribute_slim GO:0043455 biolink:BiologicalProcess regulation of secondary metabolic process Any process that modulates the frequency, rate or extent of secondary metabolism, the chemical reactions and pathways involving compounds that are not necessarily required for growth and maintenance of cells, and are often unique to a taxon. hp.json regulation of secondary metabolism http://purl.obolibrary.org/obo/GO_0043455 CL:0005012 biolink:Cell multi-ciliated epithelial cell A ciliated epithelial cell with many cilium. hp.json MCC|multi-ciliated cell|multiciliated cell|multiciliated epithelial cell http://purl.obolibrary.org/obo/CL_0005012 GO:0043467 biolink:BiologicalProcess regulation of generation of precursor metabolites and energy Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and the processes involved in the liberation of energy from these substances. hp.json http://purl.obolibrary.org/obo/GO_0043467 CL:0005026 biolink:Cell hepatoblast Multi fate stem cell that gives rise to both hepatocytes and cholangiocytes as descendants. hp.json http://purl.obolibrary.org/obo/CL_0005026 CL:0005020 biolink:Cell lymphangioblast Lymphatic progenitor cells. hp.json http://purl.obolibrary.org/obo/CL_0005020 GO:0031452 biolink:BiologicalProcess negative regulation of heterochromatin assembly Any process that stops, prevents, or reduces the frequency, rate or extent of heterochromatin formation. hp.json down regulation of heterochromatin formation|downregulation of heterochromatin formation|inhibition of heterochromatin formation|negative regulation of heterochromatin formation|down-regulation of heterochromatin formation http://purl.obolibrary.org/obo/GO_0031452 GO:0031453 biolink:BiologicalProcess positive regulation of heterochromatin assembly Any process that activates or increases the frequency, rate or extent of heterochromatin formation. hp.json upregulation of heterochromatin formation|up-regulation of heterochromatin formation|up regulation of heterochromatin formation|activation of heterochromatin formation|positive regulation of heterochromatin formation|stimulation of heterochromatin formation http://purl.obolibrary.org/obo/GO_0031453 CL:0005022 biolink:Cell vascular lymphangioblast Lymphatic progenitor cells, derived from the veins, that give rise to lymphatic endothelial cells. hp.json parachordal lymphangioblast http://purl.obolibrary.org/obo/CL_0005022 GO:0043470 biolink:BiologicalProcess regulation of carbohydrate catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates. hp.json http://purl.obolibrary.org/obo/GO_0043470 GO:0031445 biolink:BiologicalProcess regulation of heterochromatin assembly Any process that modulates the frequency, rate, extent or location of heterochromatin formation. hp.json regulation of heterochromatin formation http://purl.obolibrary.org/obo/GO_0031445 GO:0006487 biolink:BiologicalProcess protein N-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. RESID:AA0156|RESID:AA0151|RESID:AA0327 hp.json N-glycan biosynthesis|protein amino acid N-linked glycosylation|N-glycan metabolism http://purl.obolibrary.org/obo/GO_0006487 GO:0006486 biolink:BiologicalProcess protein glycosylation A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. hp.json protein amino acid glycosylation|protein-carbohydrate complex assembly http://purl.obolibrary.org/obo/GO_0006486 goslim_generic|goslim_yeast|prokaryote_subset|goslim_pombe GO:0043471 biolink:NamedThing regulation of cellular carbohydrate catabolic process hp.json http://purl.obolibrary.org/obo/GO_0043471 GO:0043474 biolink:BiologicalProcess pigment metabolic process involved in pigmentation The chemical reactions and pathways involving a pigment, any general or particular coloring matter in living organisms, resulting in the deposition or aggregation of pigment in an organism, tissue or cell. hp.json pigment metabolism during pigmentation|pigment metabolic process during pigmentation http://purl.obolibrary.org/obo/GO_0043474 GO:0043473 biolink:BiologicalProcess pigmentation The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. hp.json http://purl.obolibrary.org/obo/GO_0043473 goslim_chembl|goslim_pir HP:0410005 biolink:PhenotypicFeature Cleft hard palate UMLS:C0432090|SNOMEDCT_US:448915004 hp.json Cleft of hard palate|Cleft bony palate http://purl.obolibrary.org/obo/HP_0410005 HP:0410004 biolink:PhenotypicFeature obsolete Cleft secondary palate hp.json http://purl.obolibrary.org/obo/HP_0410004 HP:0410003 biolink:PhenotypicFeature Cleft maxillary alveolus Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine. UMLS:C4280276|UMLS:C0432084|SNOMEDCT_US:109546001 hp.json Cleft primary palate|Cleft alveolar process of maxilla|Cleft anterior maxilla|Alveolar cleft http://purl.obolibrary.org/obo/HP_0410003 HP:0410009 biolink:PhenotypicFeature Abnormality of the somatic nervous system Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. UMLS:C4073188 hp.json http://purl.obolibrary.org/obo/HP_0410009 HP:0410008 biolink:PhenotypicFeature Abnormality of the peripheral nervous system Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. UMLS:C4073187 hp.json Abnormality of the peripheral nervous system http://purl.obolibrary.org/obo/HP_0410008 HP:0410007 biolink:PhenotypicFeature obsolete Abnormality of cartilage morphology hp.json http://purl.obolibrary.org/obo/HP_0410007 HP:0410006 biolink:PhenotypicFeature Abnormality of ophthalmic artery Abnormality of the first branch of the internal carotid artery. UMLS:C4073185 hp.json Ophthalmic artery anomaly http://purl.obolibrary.org/obo/HP_0410006 HP:0410000 biolink:PhenotypicFeature Abnormal vomer morphology An abnormality of the vomer. UMLS:C4020914 hp.json Abnormality of vomer bone|Defect of vomer|Abnormality of vomer http://purl.obolibrary.org/obo/HP_0410000 GO:0006493 biolink:BiologicalProcess protein O-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. RESID:AA0212|RESID:AA0157|RESID:AA0155|RESID:AA0154|RESID:AA0153 hp.json protein amino acid O-linked glycosylation http://purl.obolibrary.org/obo/GO_0006493 CL:0005009 biolink:Cell renal principal cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the cells apical membrane is regulated by aldosterone and vasopressin. In mammals these cells are located in the renal collecting ducts. hp.json http://purl.obolibrary.org/obo/CL_0005009 CL:0005000 biolink:Cell spinal cord interneuron A CNS interneuron located in the spinal cord. hp.json http://purl.obolibrary.org/obo/CL_0005000 HP:0040179 biolink:PhenotypicFeature Decreased level of platelet-activating factor UMLS:C4073144 hp.json Decreased level of PAF http://purl.obolibrary.org/obo/HP_0040179 GO:0031424 biolink:BiologicalProcess keratinization The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns. hp.json http://purl.obolibrary.org/obo/GO_0031424 HP:0410027 biolink:PhenotypicFeature Alveolar bone loss around teeth A decrease in the amount of alveolar bone around the root of a tooth. hp.json Bone loss around teeth http://purl.obolibrary.org/obo/HP_0410027 HP:0410026 biolink:PhenotypicFeature Abnormal periodontium morphology Any abnormality of the periodontium. hp.json Abnormality of the periodontium http://purl.obolibrary.org/obo/HP_0410026 HP:0040170 biolink:PhenotypicFeature Abnormality of hair growth UMLS:C4073136 hp.json http://purl.obolibrary.org/obo/HP_0040170 HP:0410028 biolink:PhenotypicFeature Recurrent oral herpes Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. hp.json Recurrent herpes labialis http://purl.obolibrary.org/obo/HP_0410028 HP:0040173 biolink:PhenotypicFeature Abnormality of the tongue muscle UMLS:C4073139 hp.json Abnormality of the tongue muscle|Abnormality of lingual muscle http://purl.obolibrary.org/obo/HP_0040173 HP:0040174 biolink:PhenotypicFeature Abnormality of extrinsic muscle of tongue UMLS:C4073140 hp.json Abnormality of extrinsic lingual muscle http://purl.obolibrary.org/obo/HP_0040174 HP:0040171 biolink:PhenotypicFeature Decreased serum testosterone concentration UMLS:C4073137|UMLS:C1295654|SNOMEDCT_US:131078003 hp.json Decreased serum testosterone level|Low serum testosterone level|Decreased serum testosterone levels|Low serum testosterone levels|Decreased testosterone http://purl.obolibrary.org/obo/HP_0040171 HP:0040172 biolink:PhenotypicFeature Abnormality of occipitofrontalis muscle UMLS:C4073138 hp.json http://purl.obolibrary.org/obo/HP_0040172 HP:0040177 biolink:PhenotypicFeature Abnormal level of platelet-activating factor UMLS:C4073142 hp.json Abnormal level of PAF http://purl.obolibrary.org/obo/HP_0040177 HP:0410023 biolink:PhenotypicFeature Abnormal distribution of cell junction proteins in buccal mucosal cells An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. hp.json http://purl.obolibrary.org/obo/HP_0410023 HP:0410022 biolink:PhenotypicFeature Vaginal fish odor A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). hp.json Vaginal fish odour|Vaginal fish odor http://purl.obolibrary.org/obo/HP_0410022 HP:0040178 biolink:PhenotypicFeature Increased level of platelet-activating factor UMLS:C4073143 hp.json Increased level of PAF http://purl.obolibrary.org/obo/HP_0040178 HP:0410021 biolink:PhenotypicFeature Musty odor Pungent body odor. hp.json Musty odor|Musty odour http://purl.obolibrary.org/obo/HP_0410021 HP:0040175 biolink:PhenotypicFeature Platelet-activating factor acetylhydrolase deficiency Reduced level of platelet-activating factor acetylhydrolase. UMLS:C3280315|MSH:C566640 hp.json http://purl.obolibrary.org/obo/HP_0040175 HP:0410020 biolink:PhenotypicFeature Fish odor Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. hp.json Fishy body odour|Fishy odour|Fishy body odor|Fish odour|Fishy odor http://purl.obolibrary.org/obo/HP_0410020 HP:0040176 biolink:PhenotypicFeature Abnormal circulating phospholipid concentration Any deviation from the normal concentration of a phospholipid in the blood circulation. UMLS:C4073141 hp.json Abnormal level of phospholipids http://purl.obolibrary.org/obo/HP_0040176 HP:0410016 biolink:PhenotypicFeature Abnormality of cranial ganglion An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium. UMLS:C4073195 hp.json http://purl.obolibrary.org/obo/HP_0410016 HP:0410015 biolink:PhenotypicFeature Abnormality of ganglion of peripheral nervous system An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. UMLS:C4073194 hp.json http://purl.obolibrary.org/obo/HP_0410015 HP:0410014 biolink:PhenotypicFeature Abnormality of ganglion An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system. UMLS:C4073193 hp.json http://purl.obolibrary.org/obo/HP_0410014 HP:0410013 biolink:PhenotypicFeature Abnormality of the submandibular region Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. UMLS:C4073192 hp.json http://purl.obolibrary.org/obo/HP_0410013 HP:0040180 biolink:PhenotypicFeature obsolete Hyperkeratosis pilaris hp.json http://purl.obolibrary.org/obo/HP_0040180 HP:0040181 biolink:PhenotypicFeature Chapped lip Cracking, fissuring, and peeling of the skin of the lips. SNOMEDCT_US:402294001|SNOMEDCT_US:16459000|UMLS:C0263449|SNOMEDCT_US:238751002|SNOMEDCT_US:248182008|MSH:D019557|UMLS:C0424489 hp.json Chapped lip|Perioral dermatitis|Common cheilitis|Chapped lips|Dry lips|Cheilitis simplex http://purl.obolibrary.org/obo/HP_0040181 HP:0410019 biolink:PhenotypicFeature Epigastric pain Pain that is localized to the region of the upper abdomen immediately below the ribs. hp.json Epigastrium pain http://purl.obolibrary.org/obo/HP_0410019 HP:0410018 biolink:PhenotypicFeature Recurrent ear infections Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections. hp.json Recurrent ear infections|Frequent ear infections http://purl.obolibrary.org/obo/HP_0410018 HP:0410017 biolink:PhenotypicFeature Otitis externa Inflammation or infection of the external auditory canal (EAC), the auricle, or both. hp.json Swimmer's ear http://purl.obolibrary.org/obo/HP_0410017 GO:0031410 biolink:CellularComponent cytoplasmic vesicle A vesicle found in the cytoplasm of a cell. NIF_Subcellular:sao180601769 hp.json cytoplasmic, membrane-bounded vesicle|cytoplasmic membrane bounded vesicle|cytoplasmic membrane-enclosed vesicle http://purl.obolibrary.org/obo/GO_0031410 goslim_candida|goslim_agr|goslim_yeast|goslim_generic|goslim_aspergillus|goslim_chembl|goslim_mouse HP:0040184 biolink:PhenotypicFeature Oral bleeding MSH:D006472|UMLS:C0029163|SNOMEDCT_US:22490002 hp.json Oral haemorrhage|Oral hemorrhage|Oral bleeding http://purl.obolibrary.org/obo/HP_0040184 HP:0040185 biolink:PhenotypicFeature Macrothrombocytopenia UMLS:C2751260 hp.json Macrothrombozytopenia http://purl.obolibrary.org/obo/HP_0040185 HP:0040182 biolink:PhenotypicFeature Inappropriate sinus tachycardia Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands. UMLS:C1881170|SNOMEDCT_US:425582007 hp.json http://purl.obolibrary.org/obo/HP_0040182 HP:0040183 biolink:PhenotypicFeature Encopresis UMLS:C2945606|SNOMEDCT_US:302690004 hp.json Stool soiling|Stool holding http://purl.obolibrary.org/obo/HP_0040183 HP:0410012 biolink:PhenotypicFeature Abnormal mouth floor morphology Any abnormality of the mouth floor. UMLS:C4073191 hp.json Abnormality of the mouth floor|Abnormality of the floor of mouth http://purl.obolibrary.org/obo/HP_0410012 HP:0040188 biolink:PhenotypicFeature Osteochondrosis Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification. MSH:D055034|SNOMEDCT_US:19579005|UMLS:C0029429 hp.json http://purl.obolibrary.org/obo/HP_0040188 HP:0040189 biolink:PhenotypicFeature Scaling skin Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. SNOMEDCT_US:14411002|SNOMEDCT_US:271767006|UMLS:C0237849 hp.json Scaly skin|Desquamation|flaking skin|peeling skin|Scaling skin http://purl.obolibrary.org/obo/HP_0040189 HP:0410011 biolink:PhenotypicFeature Abnormality of masticatory muscle Any abnormality of the masticatory muscle. UMLS:C4073190 hp.json Abnormality of muscles of mastication http://purl.obolibrary.org/obo/HP_0410011 HP:0040186 biolink:PhenotypicFeature Maculopapular exanthema A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. UMLS:C0423791|SNOMEDCT_US:47725002|SNOMEDCT_US:247471006 hp.json http://purl.obolibrary.org/obo/HP_0040186 HP:0410010 biolink:PhenotypicFeature Abnormality of somatic nerve plexus Any abnormality of the somatic nerve plexus. UMLS:C4073189 hp.json http://purl.obolibrary.org/obo/HP_0410010 HP:0040187 biolink:PhenotypicFeature Neonatal sepsis Systemic inflammatory response to infection in newborn babies. SNOMEDCT_US:206376005|MSH:D000071074|UMLS:C0456103 hp.json http://purl.obolibrary.org/obo/HP_0040187 CHEBI:20067 biolink:ChemicalSubstance 3-hydroxybutyric acid A straight-chain 3-hydroxy monocarboxylic acid comprising a butyric acid core with a single hydroxy substituent in the 3- position; a ketone body whose levels are raised during ketosis, used as an energy source by the brain during fasting in humans. Also used to synthesise biodegradable plastics. PMID:17579249|PMID:17190852|PMID:10855969|LIPID_MAPS_instance:LMFA01050005|PMID:6061736|Wikipedia:3-hydroxybutyrate|HMDB:HMDB0000357|Beilstein:773861|CAS:300-85-6|Reaxys:773861 hp.json 3-hydroxybutanoic acid|beta-Hydroxybuttersaeure|(1)-3-Hydroxybutyric acid|DL-beta-Hydroxybutyric acid|beta-hydroxy-n-butyric acid|BHBA|beta-Hydroxy-n-butyric acid|3-OH-butyric acid|beta-hydroxybutyric acid|3 HBA|beta-hydroxybutanoic acid|3-Hydroxybuttersaeure http://purl.obolibrary.org/obo/CHEBI_20067 3_STAR GO:0006449 biolink:BiologicalProcess regulation of translational termination Any process that modulates the frequency, rate or extent of translational termination. hp.json http://purl.obolibrary.org/obo/GO_0006449 GO:0031406 biolink:MolecularActivity carboxylic acid binding Binding to a carboxylic acid, an organic acid containing one or more carboxyl (COOH) groups or anions (COO-). hp.json http://purl.obolibrary.org/obo/GO_0031406 goslim_pir GO:0006448 biolink:BiologicalProcess regulation of translational elongation Any process that modulates the frequency, rate, extent or accuracy of translational elongation. hp.json http://purl.obolibrary.org/obo/GO_0006448 GO:0031401 biolink:BiologicalProcess positive regulation of protein modification process Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. hp.json up regulation of protein modification|stimulation of protein modification|up-regulation of protein modification|activation of protein modification|upregulation of protein modification http://purl.obolibrary.org/obo/GO_0031401 GO:0006446 biolink:BiologicalProcess regulation of translational initiation Any process that modulates the frequency, rate or extent of translational initiation. hp.json http://purl.obolibrary.org/obo/GO_0006446 HP:0410049 biolink:PhenotypicFeature Abnormal radial ray morphology hp.json Abnormality of radial ray|Radial ray deformity|Radial ray abnormality|Radial ray anomaly|Deformity of radial ray http://purl.obolibrary.org/obo/HP_0410049 HP:0040191 biolink:PhenotypicFeature Rectus femoris muscle atrophy UMLS:C2083352 hp.json Atrophy of the rectus femoris muscles http://purl.obolibrary.org/obo/HP_0040191 HP:0040192 biolink:PhenotypicFeature APUdoma An endocrine tumor arising from an APUD cell. SNOMEDCT_US:253008000|MSH:D001079|SNOMEDCT_US:74926005|UMLS:C0003650 hp.json amine precursor uptake and decarboxylation tumours http://purl.obolibrary.org/obo/HP_0040192 HP:0040190 biolink:PhenotypicFeature White scaling skin UMLS:C4073146 hp.json White scaly skin|White scaling skin http://purl.obolibrary.org/obo/HP_0040190 HP:0040195 biolink:PhenotypicFeature Decreased head circumference An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. UMLS:C0424688|SNOMEDCT_US:271611007 hp.json Decreased head circumference http://purl.obolibrary.org/obo/HP_0040195 GO:0031400 biolink:BiologicalProcess negative regulation of protein modification process Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. hp.json downregulation of protein modification|down regulation of protein modification|inhibition of protein modification|down-regulation of protein modification http://purl.obolibrary.org/obo/GO_0031400 HP:0040196 biolink:PhenotypicFeature Mild microcephaly Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). UMLS:C1836806 hp.json http://purl.obolibrary.org/obo/HP_0040196 HP:0040193 biolink:PhenotypicFeature obsolete Pinealoblastoma hp.json http://purl.obolibrary.org/obo/HP_0040193 HP:0040194 biolink:PhenotypicFeature Increased head circumference An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. UMLS:C4083076 hp.json Increased head circumference http://purl.obolibrary.org/obo/HP_0040194 HP:0040199 biolink:PhenotypicFeature obsolete Flat midface hp.json http://purl.obolibrary.org/obo/HP_0040199 HP:0040197 biolink:PhenotypicFeature Encephalomalacia Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. MSH:D004678|SNOMEDCT_US:58762006|UMLS:C0014068 hp.json Cerebral softening http://purl.obolibrary.org/obo/HP_0040197 HP:0410043 biolink:PhenotypicFeature Abnormal neural tube morphology Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). Fyler:4339 hp.json http://purl.obolibrary.org/obo/HP_0410043 HP:0410042 biolink:PhenotypicFeature Abnormal liver morphology Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. Fyler:4447 hp.json http://purl.obolibrary.org/obo/HP_0410042 HP:0040198 biolink:PhenotypicFeature Non-medullary thyroid carcinoma MSH:C536915|UMLS:C3501843 hp.json Nonmedullary thyroid carcinoma|Thyroid cancer, nonmedullary http://purl.obolibrary.org/obo/HP_0040198 HP:0410035 biolink:PhenotypicFeature Abnormal T cell activation Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. hp.json Abnormal T-lymphocyte activation|Abnormal T lymphocyte activation|Abnormal T-cell activation http://purl.obolibrary.org/obo/HP_0410035 HP:0410030 biolink:PhenotypicFeature Cleft lip A gap in the lip or lips. hp.json Cleft lip|Cleft of the lip http://purl.obolibrary.org/obo/HP_0410030 HP:0410034 biolink:PhenotypicFeature Bilateral alveolar cleft of maxilla Nonmidline alveolar cleft of the maxilla. hp.json http://purl.obolibrary.org/obo/HP_0410034 HP:0410033 biolink:PhenotypicFeature Unilateral alveolar cleft of maxilla One sided alveolar cleft of the maxilla. hp.json http://purl.obolibrary.org/obo/HP_0410033 HP:0410032 biolink:PhenotypicFeature obsolete Cleft of uvula hp.json http://purl.obolibrary.org/obo/HP_0410032 HP:0410031 biolink:PhenotypicFeature Submucous cleft of soft and hard palate Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. hp.json http://purl.obolibrary.org/obo/HP_0410031 HP:0040137 biolink:PhenotypicFeature Comedonal acne A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules. UMLS:C4022418 hp.json Comedogenic acne http://purl.obolibrary.org/obo/HP_0040137 HP:0040138 biolink:PhenotypicFeature Mucinous histiocytosis Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone. UMLS:C0334126|SNOMEDCT_US:87412005 hp.json Histiocytosis, mucinous http://purl.obolibrary.org/obo/HP_0040138 HP:0040135 biolink:PhenotypicFeature Abnormal transferrin saturation Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. UMLS:C4022419 hp.json http://purl.obolibrary.org/obo/HP_0040135 HP:0003191 biolink:PhenotypicFeature Cleft ala nasi The presence of a notch in the margin of the ala nasi. UMLS:C1844537 hp.json Alar clefts|Notched nasal alae|Nostril coloboma|Cleft nasal alae|Cleft nostril|Ala nasi, cleft http://purl.obolibrary.org/obo/HP_0003191 HP:0410070 biolink:PhenotypicFeature Increased level of ribitol in urine An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. hp.json http://purl.obolibrary.org/obo/HP_0410070 UBERON:5103631 biolink:AnatomicalEntity pedal digit 1 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 1 plus the associated metapodial element. hp.json pedal digit I digitopodial skeleton|pedal digit 1 skeleton|pedal digit 1 http://purl.obolibrary.org/obo/UBERON_5103631 HP:0040139 biolink:PhenotypicFeature Lipogranulomatosis Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions. SNOMEDCT_US:189099001|SNOMEDCT_US:416439000|SNOMEDCT_US:36279001|UMLS:C1704214 hp.json http://purl.obolibrary.org/obo/HP_0040139 HP:0410069 biolink:PhenotypicFeature Increased level of propylene glycol in blood An increase in the level of propylene glycol in the blood. hp.json Increased level of propane-1,2-diol in blood http://purl.obolibrary.org/obo/HP_0410069 HP:0003189 biolink:PhenotypicFeature Long nose Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. UMLS:C1839798 hp.json Increased nasal height|Increased nasal length|Nasal elongation|Long nose|Increased height of nose|Increased length of nose|Elongated nose http://purl.obolibrary.org/obo/HP_0003189 HP:0410068 biolink:PhenotypicFeature Increased level of L-glutamic acid in blood An increase in the level of L-glutamic acid in the blood. hp.json http://purl.obolibrary.org/obo/HP_0410068 HP:0003184 biolink:PhenotypicFeature Decreased hip abduction Reduced ability to move the femur outward to the side. UMLS:C1836589 hp.json Limited hip abduction http://purl.obolibrary.org/obo/HP_0003184 UBERON:5103623 biolink:AnatomicalEntity manual digit 3 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 3 plus the associated metapodial element. hp.json manual digit 3|manual digit 3 skeleton|manual digit III digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_5103623 HP:0410063 biolink:PhenotypicFeature Increased level of galactonate in red blood cells An increase in the level of galactonate in the red blood cells. hp.json Increased level of galactonate in erythrocytes|Increased level of galactonate in RBCs http://purl.obolibrary.org/obo/HP_0410063 UBERON:5103624 biolink:AnatomicalEntity manual digit 4 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 4 plus the associated metapodial element. hp.json manual digit 4|manual digit 4 skeleton|manual digit IV digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_5103624 HP:0410062 biolink:PhenotypicFeature Increased level of galactitol in urine An increase in the level of galactitol in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410062 HP:0003183 biolink:PhenotypicFeature Wide pubic symphysis Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. UMLS:C1857190 hp.json Wide symphysis of pubis http://purl.obolibrary.org/obo/HP_0003183 hposlim_core HP:0040130 biolink:PhenotypicFeature Abnormal serum iron concentration UMLS:C0235760 hp.json http://purl.obolibrary.org/obo/HP_0040130 HP:0410061 biolink:PhenotypicFeature Increased level of galactitol in plasma An increase in the level of galactitol in the plasma. hp.json http://purl.obolibrary.org/obo/HP_0410061 HP:0003182 biolink:PhenotypicFeature Shallow acetabular fossae UMLS:C1860796|UMLS:C1854910 hp.json Shallow acetabular fossa|Shallow acetabulum|Shallow acetabula|Shallow acetabulae http://purl.obolibrary.org/obo/HP_0003182 UBERON:5103622 biolink:AnatomicalEntity manual digit 2 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 2 plus the associated metapodial element. hp.json manual digit 2 skeleton|manual digit 2|manual digit II digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_5103622 HP:0410060 biolink:PhenotypicFeature Decreased level of D-mannose in urine A decrease in the level of D-mannose in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410060 HP:0040133 biolink:PhenotypicFeature Abnormal circulating ferritin concentration A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. UMLS:C0853228 hp.json Abnormal serum ferritin|Abnormal plasma ferritin http://purl.obolibrary.org/obo/HP_0040133 HP:0410067 biolink:PhenotypicFeature Increased level of L-fucose in urine An increase in the level of L-fucose in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410067 HP:0410066 biolink:PhenotypicFeature Increased level of hippuric acid in urine An increase in the level of hippuric acid in the urine. hp.json Increased level of N-benzoylglycine in urine http://purl.obolibrary.org/obo/HP_0410066 HP:0040134 biolink:PhenotypicFeature Abnormal hepatic iron concentration UMLS:C4022420 hp.json Abnormal liver iron level|Abnormal liver iron concentration http://purl.obolibrary.org/obo/HP_0040134 HP:0003187 biolink:PhenotypicFeature Breast hypoplasia Underdevelopment of the breast. SNOMEDCT_US:8915006|UMLS:C0266013 hp.json Underdeveloped breasts http://purl.obolibrary.org/obo/HP_0003187 HP:0040131 biolink:PhenotypicFeature Abnormal motor nerve conduction velocity UMLS:C4021031 hp.json http://purl.obolibrary.org/obo/HP_0040131 HP:0410065 biolink:PhenotypicFeature Increased level of hippuric acid in blood An increase in the level of hippuric acid in the blood. hp.json Increased level of N-benzoylglycine in blood http://purl.obolibrary.org/obo/HP_0410065 UBERON:5103625 biolink:AnatomicalEntity manual digit 5 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 5 plus the associated metapodial element. hp.json manual digit 5|manual digit 5 skeleton|manual digit V digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_5103625 HP:0003186 biolink:PhenotypicFeature Inverted nipples The presence of nipples that instead of pointing outward are retracted inwards. SNOMEDCT_US:82231009|UMLS:C0269269 hp.json Invaginated nipples|Inverted nipples http://purl.obolibrary.org/obo/HP_0003186 HP:0410064 biolink:PhenotypicFeature Increased level of galactitol in red blood cells An increase in the level of galactitol in the red blood cells. hp.json Increased level of galactitol in erythrocytes http://purl.obolibrary.org/obo/HP_0410064 HP:0003185 biolink:PhenotypicFeature Short greater sciatic notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. UMLS:C1866689 hp.json Short sacroiliac notch|Shortened sacroiliac notches|Small sacroiliac notch http://purl.obolibrary.org/obo/HP_0003185 HP:0040132 biolink:PhenotypicFeature Abnormal sensory nerve conduction velocity UMLS:C4022421 hp.json http://purl.obolibrary.org/obo/HP_0040132 HP:0040148 biolink:PhenotypicFeature Cortical myoclonus Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). UMLS:C3698239|SNOMEDCT_US:698835006 hp.json http://purl.obolibrary.org/obo/HP_0040148 HP:0040149 biolink:PhenotypicFeature Woolly scalp hair The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. UMLS:C4280293|UMLS:C4280292|UMLS:C4015203|UMLS:C4280291 hp.json Nappy scalp hair texture|Kinky scalp hair texture|Afro-textured scalp hair|Wooly scalp hair http://purl.obolibrary.org/obo/HP_0040149 HP:0040146 biolink:PhenotypicFeature D-2-hydroxyglutaric acidemia UMLS:C4022415 hp.json http://purl.obolibrary.org/obo/HP_0040146 HP:0040147 biolink:PhenotypicFeature L-2-hydroxyglutaric acidemia UMLS:C3888081 hp.json http://purl.obolibrary.org/obo/HP_0040147 PR:P21183 biolink:Protein interleukin-5 receptor subunit alpha (mouse) An interleukin-5 receptor subunit alpha that is encoded in the genome of mouse. UniProtKB:P21183 hp.json IL-5R-alpha (mouse)|Il5ra|Il5r|CD125 (mouse)|IL-5 receptor subunit alpha (mouse)|mIL5RA|IL-5RA (mouse)|IL-5R subunit alpha (mouse) http://purl.obolibrary.org/obo/PR_P21183 MPATH:194 biolink:NamedThing immune mediated disease Tissue response to inappropriate immune/inflammatory process. hp.json http://purl.obolibrary.org/obo/MPATH_194 MPATH:196 biolink:NamedThing dermatitis Inflammation of the skin. hp.json http://purl.obolibrary.org/obo/MPATH_196 HP:0410059 biolink:PhenotypicFeature Increased level of D-threitol in urine An increase in the level of D-threitol in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410059 MPATH:198 biolink:NamedThing immune mediated hemolytic anaemia An anemic/erythrocytopenic condition resulting from an increased rate of immune mediated erythrocyte destruction. hp.json http://purl.obolibrary.org/obo/MPATH_198 HP:0410058 biolink:PhenotypicFeature Increased level of D-threitol in CSF An increase in the level of D-threitol in the cerebrospinal fluid. hp.json Increased level of D-threitol in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0410058 MPATH:197 biolink:NamedThing glomerulonephritis Renal disease characterised by diffuse inflammatory changes in glomeruli not in response to an infectious agent or treatment. hp.json http://purl.obolibrary.org/obo/MPATH_197 HP:0410057 biolink:PhenotypicFeature Increased level of D-threitol in plasma An increase in the level of D-threitol in the plasma. hp.json http://purl.obolibrary.org/obo/HP_0410057 HP:0410052 biolink:PhenotypicFeature Increased level of allantoin in serum An increase in the level of allantoin in the serum. hp.json http://purl.obolibrary.org/obo/HP_0410052 UBERON:5103634 biolink:AnatomicalEntity pedal digit 4 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 4 plus the associated metapodial element. hp.json pedal digit 4 skeleton|pedal digit 4|pedal digit IV digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_5103634 HP:0040140 biolink:PhenotypicFeature Degeneration of the striatum UMLS:C4022417 hp.json http://purl.obolibrary.org/obo/HP_0040140 HP:0040141 biolink:PhenotypicFeature Tardive dyskinesia UMLS:C0686347|MSH:D000071057 hp.json http://purl.obolibrary.org/obo/HP_0040141 UBERON:5103635 biolink:AnatomicalEntity pedal digit 5 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 5 plus the associated metapodial element. hp.json pedal digit V digitopodial skeleton|pedal digit 5 skeleton|pedal digit 5 http://purl.obolibrary.org/obo/UBERON_5103635 HP:0003194 biolink:PhenotypicFeature Short nasal bridge Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. UMLS:C1854689 hp.json Short bridge of nose|Decreased length of nasal bridge|Short nasal bridge|Decreased length of bridge of nose http://purl.obolibrary.org/obo/HP_0003194 HP:0410051 biolink:PhenotypicFeature Increased level of 3-hydroxy-3-methylglutaric acid in urine An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410051 HP:0003193 biolink:PhenotypicFeature Allergic rhinitis It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. MSH:D065631|UMLS:C2607914|SNOMEDCT_US:61582004|UMLS:C0847614 hp.json Nasal allergies|Hayfever|Hay fever http://purl.obolibrary.org/obo/HP_0003193 UBERON:5103632 biolink:AnatomicalEntity pedal digit 2 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 2 plus the associated metapodial element. hp.json pedal digit 2 skeleton|pedal digit II digitopodial skeleton|pedal digit 2 http://purl.obolibrary.org/obo/UBERON_5103632 HP:0410050 biolink:PhenotypicFeature Decreased level of 1,5 anhydroglucitol in serum A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues. hp.json Decreased level of 1,5-anhydroglucitol in serum|Decreased level of 1,5-AG in serum|Decreased level of 1,5-anhydro-D-glucitol in serum http://purl.obolibrary.org/obo/HP_0410050 UBERON:5103633 biolink:AnatomicalEntity pedal digit 3 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 3 plus the associated metapodial element. hp.json pedal digit III digitopodial skeleton|pedal digit 3 skeleton|pedal digit 3 http://purl.obolibrary.org/obo/UBERON_5103633 HP:0040144 biolink:PhenotypicFeature L-2-hydroxyglutaric aciduria An increase in the level of L-2-hydroxyglutaric acid in the urine. SNOMEDCT_US:237961001|UMLS:C1855995 hp.json http://purl.obolibrary.org/obo/HP_0040144 HP:0410056 biolink:PhenotypicFeature Decreased level of erythritol in CSF A decrease in the level of erythritol in the cerebrospinal fluid. hp.json Decreased level of erythritol in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0410056 HP:0003199 biolink:PhenotypicFeature Decreased muscle mass UMLS:C1837108 hp.json Decreased muscle mass http://purl.obolibrary.org/obo/HP_0003199 HP:0003198 biolink:PhenotypicFeature Myopathy A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. UMLS:C0026848|SNOMEDCT_US:129565002|MSH:D009135 hp.json Muscle tissue disease|Myopathic changes http://purl.obolibrary.org/obo/HP_0003198 HP:0410055 biolink:PhenotypicFeature Decreased level of erythritol in urine A decrease in the level of erythritol in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410055 HP:0040145 biolink:PhenotypicFeature Dicarboxylic acidemia UMLS:C4022416 hp.json http://purl.obolibrary.org/obo/HP_0040145 HP:0040142 biolink:PhenotypicFeature Reduced 5-oxoprolinase level Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. SNOMEDCT_US:26132002|UMLS:C0268525|MSH:C535322 hp.json 5-oxoprolinase deficiency http://purl.obolibrary.org/obo/HP_0040142 HP:0410054 biolink:PhenotypicFeature Decreased circulating GABA concentration A decrease in the level of GABA in the serum. hp.json Decreased circulating gamma-aminobutyric acid concentration|Decreased level of gamma-aminobutyric acid in serum http://purl.obolibrary.org/obo/HP_0410054 HP:0003196 biolink:PhenotypicFeature Short nose Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. UMLS:C0426414|UMLS:C1854114|SNOMEDCT_US:249310005 hp.json Hypoplastic nose|Decreased length of nose|Shortened nose|Short nose|Small nose|Nasal hypoplasia http://purl.obolibrary.org/obo/HP_0003196 hposlim_core HP:0410053 biolink:PhenotypicFeature Elevated circulating gamma-aminobutyric acid concentration An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation. hp.json Increased level of GABA in serum|Increased circulating GABA concentration|Increased level of gamma-aminobutyric acid in serum http://purl.obolibrary.org/obo/HP_0410053 HP:0040143 biolink:PhenotypicFeature Dystopic os odontoideum Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus UMLS:C3552843 hp.json http://purl.obolibrary.org/obo/HP_0040143 HP:0040159 biolink:PhenotypicFeature Abnormal spaced incisors UMLS:C4022410 hp.json Abnormality of spacing of incisors|Abnormality of spacing of front teeth|Abnormal spaced incisors http://purl.obolibrary.org/obo/HP_0040159 HP:0040157 biolink:PhenotypicFeature Abnormal intermamillary distance UMLS:C4022412 hp.json http://purl.obolibrary.org/obo/HP_0040157 HP:0040158 biolink:PhenotypicFeature Short intermamillary distance UMLS:C4022411 hp.json http://purl.obolibrary.org/obo/HP_0040158 MPATH:184 biolink:NamedThing sclerosis Any pathological thickening or hardening of a tissue. hp.json Induration http://purl.obolibrary.org/obo/MPATH_184 HP:0003168 biolink:PhenotypicFeature Dibasicaminoaciduria An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His). UMLS:C4025643 hp.json http://purl.obolibrary.org/obo/HP_0003168 HP:0003167 biolink:PhenotypicFeature Carnosinuria An increased concentration of carnosine in the urine. UMLS:C3495558|SNOMEDCT_US:410051001 hp.json High urine carnosine levels http://purl.obolibrary.org/obo/HP_0003167 MPATH:188 biolink:NamedThing immunopathological process Inappropriate or aberrant activation or suppression of the immune or inflammatory response. hp.json http://purl.obolibrary.org/obo/MPATH_188 HP:0003162 biolink:PhenotypicFeature Fasting hypoglycemia SNOMEDCT_US:6974005|UMLS:C0271708|MSH:D007003 hp.json Low blood sugar when fasting http://purl.obolibrary.org/obo/HP_0003162 HP:0040151 biolink:PhenotypicFeature Epiblepharon of lower lid UMLS:C1851583|MSH:C565051 hp.json http://purl.obolibrary.org/obo/HP_0040151 HP:0003161 biolink:PhenotypicFeature 4-Hydroxyphenylpyruvic aciduria Increased concentration of pyruvic acid in the urine. UMLS:C1848678 hp.json Hydroxyphenylpyruvic aciduria http://purl.obolibrary.org/obo/HP_0003161 HP:0003160 biolink:PhenotypicFeature Abnormal isoelectric focusing of serum transferrin Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. UMLS:C2749688 hp.json Abnormal transferrin isoelectric focusing|Abnormal isoelectric focusing of transferrin http://purl.obolibrary.org/obo/HP_0003160 HP:0040150 biolink:PhenotypicFeature Epiblepharon of upper lid UMLS:C1851582|MSH:C565051 hp.json http://purl.obolibrary.org/obo/HP_0040150 PR:000007749 biolink:Protein glucose-6-phosphate 1-dehydrogenase A glucose-6-phosphate dehydrogenase that is a translation product of the human G6PD gene or a 1:1 ortholog thereof. hp.json G6PD|G6pd-1|G6pdx|glucose-6-phosphate 1-dehydrogenase X http://purl.obolibrary.org/obo/PR_000007749 HP:0003166 biolink:PhenotypicFeature Increased urinary taurine Increased concentration of taurine in the urine. UMLS:C3806447 hp.json Increased urinary taurine http://purl.obolibrary.org/obo/HP_0003166 HP:0040155 biolink:PhenotypicFeature Elevated urinary 3-hydroxybutyric acid An increased amount of 3-hydroxybutyric acid in the urine. UMLS:C4022414 hp.json http://purl.obolibrary.org/obo/HP_0040155 HP:0003165 biolink:PhenotypicFeature Elevated circulating parathyroid hormone level An abnormal increased concentration of parathyroid hormone. UMLS:C0857973 hp.json Elevated serum parathyroid hormone level|Elevated serum pth|Elevated serum parathyroid hormone|Elevated circulating PTH level|Increased serum parathyroid hormone http://purl.obolibrary.org/obo/HP_0003165 HP:0040156 biolink:PhenotypicFeature Elevated urinary carboxylic acid An increased amount of carboxylic acid in the urine. UMLS:C4022413 hp.json http://purl.obolibrary.org/obo/HP_0040156 HP:0003164 biolink:PhenotypicFeature Hypothalamic gonadotropin-releasing hormone deficiency UMLS:C4025644 hp.json Hypothalamic GNRH deficiency http://purl.obolibrary.org/obo/HP_0003164 HP:0003163 biolink:PhenotypicFeature Elevated urinary delta-aminolevulinic acid An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. UMLS:C1848702 hp.json Elevated urinary delta-aminolevulinic acid http://purl.obolibrary.org/obo/HP_0003163 HP:0040154 biolink:PhenotypicFeature Acne inversa A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. MSH:D017497|UMLS:C0162836|SNOMEDCT_US:59393003 hp.json Hidradenitis suppurativa|Pyoderma fistulans significa|Verneuil's disease|Smoker's boils http://purl.obolibrary.org/obo/HP_0040154 HP:0040168 biolink:PhenotypicFeature obsolete Focal seizures, afebril hp.json http://purl.obolibrary.org/obo/HP_0040168 HP:0040169 biolink:PhenotypicFeature Loose anagen hair UMLS:C3554793 hp.json http://purl.obolibrary.org/obo/HP_0040169 CHEBI:71666 biolink:ChemicalSubstance gamma-amino acid anion An amino-acid anion in which the amino group is situated gamma- to the carboxylate group. hp.json gamma-amino acid anions http://purl.obolibrary.org/obo/CHEBI_71666 3_STAR HP:0003180 biolink:PhenotypicFeature Flat acetabular roof Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. UMLS:C1837485 hp.json Flat acetabular roofs|Horizontal acetabular roof|Flattened acetabular roof|Horizontal acetabulae|Horizontal acetabular roofs http://purl.obolibrary.org/obo/HP_0003180 hposlim_core GO:0043401 biolink:BiologicalProcess steroid hormone mediated signaling pathway The series of molecular signals mediated by a steroid hormone binding to a receptor. hp.json steroid hormone mediated signalling http://purl.obolibrary.org/obo/GO_0043401 HP:0003179 biolink:PhenotypicFeature Protrusio acetabuli Intrapelvic bulging of the medial acetabular wall. SNOMEDCT_US:59606006|UMLS:C0409495 hp.json Protrusio acetabulae|Abnormally indented hip sockets http://purl.obolibrary.org/obo/HP_0003179 hposlim_core MPATH:176 biolink:NamedThing connective tissue replacement Replacement of connective tissue by fibro-fatty deposits and scar tissue. hp.json http://purl.obolibrary.org/obo/MPATH_176 MPATH:175 biolink:NamedThing healing and repair process The process, normal or abnormal, of damage repair or wound closure. hp.json http://purl.obolibrary.org/obo/MPATH_175 HP:0410074 biolink:PhenotypicFeature Increased level of xylitol in urine An increase in the level of xylitol in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410074 HP:0003173 biolink:PhenotypicFeature Hypoplastic pubic bone Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. UMLS:C1865030 hp.json Hypoplastic pubic bones|Hypoplastic pubis http://purl.obolibrary.org/obo/HP_0003173 HP:0040162 biolink:PhenotypicFeature Orthokeratosis Formation of an anuclear keratin layer SNOMEDCT_US:708474007|UMLS:C1843359 hp.json http://purl.obolibrary.org/obo/HP_0040162 HP:0410073 biolink:PhenotypicFeature Increased level of ribose in CSF An increase in the level of ribose in the cerebrospinal fluid. hp.json Increased level of ribose in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0410073 HP:0040163 biolink:PhenotypicFeature Abnormal pelvis bone morphology UMLS:C4073132 hp.json Abnormal shape of pelvis bone http://purl.obolibrary.org/obo/HP_0040163 HP:0003172 biolink:PhenotypicFeature Abnormality of the pubic bone An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone. UMLS:C4021738 hp.json Abnormality of the pubic bone|Abnormality of the pubis|Abnormality of the pubic bones http://purl.obolibrary.org/obo/HP_0003172 hposlim_core HP:0410072 biolink:PhenotypicFeature Increased level of ribose in urine An increase in the level of ribose in the urine. hp.json http://purl.obolibrary.org/obo/HP_0410072 HP:0040160 biolink:PhenotypicFeature Generalized osteoporosis UMLS:C0029456|UMLS:C3805887|MSH:D010024|SNOMEDCT_US:64859006 hp.json Generalised osteoporosis|Generalised osteoporosis with pathologic fractures|Generalized osteoporosis with pathologic fractures http://purl.obolibrary.org/obo/HP_0040160 HP:0003170 biolink:PhenotypicFeature Abnormal acetabulum morphology An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. UMLS:C4021739 hp.json Acetabular abnormality|Abnormality of the acetabulum|Abnormality of the hipbone socket http://purl.obolibrary.org/obo/HP_0003170 hposlim_core HP:0410071 biolink:PhenotypicFeature Increased level of ribitol in CSF An increase in the level of ribitol in the cerebral spinal fluid. hp.json Increased level of ribitol in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0410071 HP:0040161 biolink:PhenotypicFeature Localized osteoporosis UMLS:C1398367 hp.json Localised osteoporosis http://purl.obolibrary.org/obo/HP_0040161 HP:0040166 biolink:PhenotypicFeature obsolete Abnormality of the periosteum hp.json http://purl.obolibrary.org/obo/HP_0040166 HP:0003177 biolink:PhenotypicFeature Squared iliac bones A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. UMLS:C1838186 hp.json Square iliac bones|Squaring of iliac bones http://purl.obolibrary.org/obo/HP_0003177 HP:0040167 biolink:PhenotypicFeature Facial papilloma SNOMEDCT_US:240533004|UMLS:C0343643 hp.json Facial verruca|Facial wart http://purl.obolibrary.org/obo/HP_0040167 HP:0040164 biolink:PhenotypicFeature Lipomas of eyelids Fatty tumors on the eyelids. UMLS:C4073133 hp.json Fatty tumors on the eyelids|Fatty tumours on the eyelids http://purl.obolibrary.org/obo/HP_0040164 HP:0003175 biolink:PhenotypicFeature Hypoplastic ischia Underdevelopment of the ischium, which forms the lower and back part of the hip bone. UMLS:C1859447 hp.json Hypoplastic ischial bones|Hypoplastic ischium|Hypoplastic ischii http://purl.obolibrary.org/obo/HP_0003175 hposlim_core HP:0003174 biolink:PhenotypicFeature Abnormality of the ischium An anomaly of the ischium, which forms the lower and back part of the hip bone. SNOMEDCT_US:93008005|UMLS:C0685661 hp.json Abnormality of the ischial bones|Anomaly of the ischium http://purl.obolibrary.org/obo/HP_0003174 HP:0410075 biolink:PhenotypicFeature Increased level of xylitol in CSF An increase in the level of xylitol in the cerebrospinal fluid. hp.json Increased level of xylitol in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0410075 HP:0040165 biolink:PhenotypicFeature Periostitis Inflammation of the periosteum MSH:D010522|SNOMEDCT_US:41910004|UMLS:C0031111 hp.json Periostalgia http://purl.obolibrary.org/obo/HP_0040165 CHEBI:177917 biolink:ChemicalSubstance phenolic steroid KEGG:C02453|MetaCyc:PHENOLIC-STEROID hp.json a phenolic steroid http://purl.obolibrary.org/obo/CHEBI_177917 2_STAR HP:0030770 biolink:PhenotypicFeature Craniorachischisis A neural tube defect in which both the brain and spinal cord remain open to varying degrees. MSH:D009436|SNOMEDCT_US:32219008|UMLS:C0152426 hp.json http://purl.obolibrary.org/obo/HP_0030770 HP:0030771 biolink:PhenotypicFeature Mallet finger Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. SNOMEDCT_US:64298006|UMLS:C0158473 hp.json http://purl.obolibrary.org/obo/HP_0030771 GO:0043412 biolink:BiologicalProcess macromolecule modification The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. hp.json http://purl.obolibrary.org/obo/GO_0043412 goslim_pir HP:0030772 biolink:PhenotypicFeature Proximal femoral focal deficiency Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. SNOMEDCT_US:205211001|UMLS:C0431996 hp.json http://purl.obolibrary.org/obo/HP_0030772 HP:0030773 biolink:PhenotypicFeature Internuclear ophthalmoplegia An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. MSH:D015835|UMLS:C0152134|SNOMEDCT_US:49823009 hp.json http://purl.obolibrary.org/obo/HP_0030773 HP:0030778 biolink:PhenotypicFeature Modic type III vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs. UMLS:C4280775 hp.json Modic type 3 vertebral endplate changes http://purl.obolibrary.org/obo/HP_0030778 HP:0030779 biolink:PhenotypicFeature Ethmocephaly Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. UMLS:C0266680|SNOMEDCT_US:55709000 hp.json http://purl.obolibrary.org/obo/HP_0030779 OBO:uberon/core#transitively_proximally_connected_to biolink:NamedThing transitively proximally connected to . hp.json http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to HP:0030774 biolink:PhenotypicFeature Mitochondrial swelling The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures. MSH:D008933|UMLS:C0026244|SNOMEDCT_US:125429001 hp.json http://purl.obolibrary.org/obo/HP_0030774 GO:0043413 biolink:BiologicalProcess macromolecule glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. hp.json http://purl.obolibrary.org/obo/GO_0043413 HP:0030775 biolink:PhenotypicFeature Modic type vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic. UMLS:C4280778 hp.json http://purl.obolibrary.org/obo/HP_0030775 HP:0030776 biolink:PhenotypicFeature Modic type I vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation. UMLS:C4280777 hp.json Modic type 1 vertebral endplate changes http://purl.obolibrary.org/obo/HP_0030776 HP:0030777 biolink:PhenotypicFeature Modic type II vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow. UMLS:C4280776 hp.json Modic type 2 vertebral endplate changes http://purl.obolibrary.org/obo/HP_0030777 CHEBI:71671 biolink:ChemicalSubstance aldonate(1-) A carbohydrate acid anion obtained by deprotonation of any aldonic acid. Major structure at pH 7.3 of aldonate compounds. hp.json aldonates http://purl.obolibrary.org/obo/CHEBI_71671 3_STAR HP:0040104 biolink:PhenotypicFeature Osseous stenosis of the external auditory canal UMLS:C4022437 hp.json http://purl.obolibrary.org/obo/HP_0040104 HP:0040102 biolink:PhenotypicFeature Osseous atresia of the external auditory canal UMLS:C4022439 hp.json http://purl.obolibrary.org/obo/HP_0040102 HP:0040103 biolink:PhenotypicFeature Cutaneous stenosis of the external auditory canal UMLS:C4022438 hp.json http://purl.obolibrary.org/obo/HP_0040103 HP:0040108 biolink:PhenotypicFeature Morphological abnormality of the anterior semicircular canal UMLS:C4022435 hp.json http://purl.obolibrary.org/obo/HP_0040108 HP:0040109 biolink:PhenotypicFeature Morphological abnormality of the utricle UMLS:C4022434 hp.json http://purl.obolibrary.org/obo/HP_0040109 HP:0040106 biolink:PhenotypicFeature Morphological abnormality of the lateral semicircular canal UMLS:C4021034 hp.json Morphological abnormality of the horizontal semicircular canal http://purl.obolibrary.org/obo/HP_0040106 HP:0040107 biolink:PhenotypicFeature Morphological abnormality of the posterior semicircular canal UMLS:C4022436 hp.json http://purl.obolibrary.org/obo/HP_0040107 HP:0030781 biolink:PhenotypicFeature Increased circulating free fatty acid level A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. UMLS:C4280773 hp.json http://purl.obolibrary.org/obo/HP_0030781 HP:0030782 biolink:PhenotypicFeature Abnormal circulating interleukin concentration An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. UMLS:C4280772 hp.json Abnormal serum IL level|Abnormal serum interleukin level http://purl.obolibrary.org/obo/HP_0030782 HP:0030783 biolink:PhenotypicFeature Increased circulating interleukin 6 concentration An increased concentration of interleukin-6 in the blood circulation. UMLS:C4280771 hp.json Increased serum IL-6|Increased serum interleukin-6 http://purl.obolibrary.org/obo/HP_0030783 HP:0030784 biolink:PhenotypicFeature Anomic aphasia An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. MSH:D000849|UMLS:C0003113|SNOMEDCT_US:10325006 hp.json Amnestic aphasia|Nominal aphasia|Amnesic aphasia|Word-finding difficulty|Anomia http://purl.obolibrary.org/obo/HP_0030784 HP:0030780 biolink:PhenotypicFeature Abnormality of the protein C anticoagulant pathway An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC. UMLS:C4280774 hp.json http://purl.obolibrary.org/obo/HP_0030780 HP:0030789 biolink:PhenotypicFeature Excessive cerumen An increased quantity of earwax. UMLS:C1382811 hp.json http://purl.obolibrary.org/obo/HP_0030789 MPATH:154 biolink:NamedThing hyperkeratosis Thickening of the surface layers (stratum corneum) in the skin or other stratified squamous epithelium. Cf. ortho- and para-keratosis. hp.json cornification|hyperparakeratosis|hyperorthokeratosis http://purl.obolibrary.org/obo/MPATH_154 HP:0030785 biolink:PhenotypicFeature Mediastinal cystic lymphangioma A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors. UMLS:C4280770 hp.json Thoracic cystic lymphangioma|Intrathoracic cystic hygroma http://purl.obolibrary.org/obo/HP_0030785 MPATH:156 biolink:NamedThing parakeratosis Thickening of the surface cell layer of a stratified squamous epithelium with retention of nuclei in the cells of the stratum corneum. hp.json http://purl.obolibrary.org/obo/MPATH_156 HP:0030786 biolink:PhenotypicFeature Photopsia Perceived flashes of light. SNOMEDCT_US:56170001|UMLS:C0085635 hp.json http://purl.obolibrary.org/obo/HP_0030786 HP:0030787 biolink:PhenotypicFeature Cerumen abnormality Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal. UMLS:C4280769 hp.json http://purl.obolibrary.org/obo/HP_0030787 HP:0030788 biolink:PhenotypicFeature Impacted cerumen Blockage of the external auditory canal by a buildup of earwax. UMLS:C0021092|SNOMEDCT_US:18070006 hp.json http://purl.obolibrary.org/obo/HP_0030788 GO:0031497 biolink:BiologicalProcess chromatin assembly The assembly of DNA, histone proteins, other associated proteins, and sometimes RNA, into chromatin structure, beginning with the formation of the basic unit, the nucleosome, followed by organization of the nucleosomes into higher order structures, ultimately giving rise to a complex organization of specific domains within the nucleus. hp.json establishment of chromatin architecture|chromatin maintenance http://purl.obolibrary.org/obo/GO_0031497 HP:0040100 biolink:PhenotypicFeature Abnormality of the vestibular window UMLS:C4021035 hp.json Abnormality of the oval window http://purl.obolibrary.org/obo/HP_0040100 HP:0040101 biolink:PhenotypicFeature Cutaneous atresia of the external auditory canal UMLS:C4022440 hp.json http://purl.obolibrary.org/obo/HP_0040101 HP:0040115 biolink:PhenotypicFeature Abnormal Eustachian tube morphology A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders. UMLS:C0262475|SNOMEDCT_US:204250005 hp.json Abnormality of the Eustachian tube http://purl.obolibrary.org/obo/HP_0040115 HP:0040116 biolink:PhenotypicFeature Aplasia of the Eustachian tube UMLS:C0266616|SNOMEDCT_US:75231006 hp.json Absent eustachian tube http://purl.obolibrary.org/obo/HP_0040116 HP:0040113 biolink:PhenotypicFeature Old-aged sensorineural hearing impairment SNOMEDCT_US:49526009|UMLS:C0033074|MSH:D011304 hp.json Presbycusis http://purl.obolibrary.org/obo/HP_0040113 HP:0040114 biolink:PhenotypicFeature Absence of the reflex of the tensor tympani muscle UMLS:C4022430 hp.json http://purl.obolibrary.org/obo/HP_0040114 HP:0040119 biolink:PhenotypicFeature Unilateral conductive hearing impairment UMLS:C4022428 hp.json http://purl.obolibrary.org/obo/HP_0040119 HP:0040117 biolink:PhenotypicFeature Atresia of the Eustachian tube UMLS:C1388953 hp.json http://purl.obolibrary.org/obo/HP_0040117 HP:0040118 biolink:PhenotypicFeature Stenosis of the Eustachian tube UMLS:C0271469|SNOMEDCT_US:80101003 hp.json http://purl.obolibrary.org/obo/HP_0040118 HP:0030792 biolink:PhenotypicFeature Jaw neoplasm A tumor originating in the jaw (mandible or maxilla). SNOMEDCT_US:126634001|UMLS:C0022364|MSH:D007573 hp.json http://purl.obolibrary.org/obo/HP_0030792 HP:0030793 biolink:PhenotypicFeature Jaw swelling Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible). UMLS:C4280766 hp.json http://purl.obolibrary.org/obo/HP_0030793 HP:0030794 biolink:PhenotypicFeature Abnormal C-peptide level An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. UMLS:C4280765 hp.json Abnormal C peptide level http://purl.obolibrary.org/obo/HP_0030794 GO:0043434 biolink:BiologicalProcess response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. hp.json response to polypeptide hormone stimulus|response to peptide hormone stimulus http://purl.obolibrary.org/obo/GO_0043434 HP:0030795 biolink:PhenotypicFeature Reduced C-peptide level A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion. UMLS:C4280764 hp.json Reduced C peptide level http://purl.obolibrary.org/obo/HP_0030795 HP:0030790 biolink:PhenotypicFeature Abnormal cerumen color An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. UMLS:C4280768 hp.json Abnormal cerumen colour|Abnormal cerumen pigmentation http://purl.obolibrary.org/obo/HP_0030790 HP:0030791 biolink:PhenotypicFeature Abnormal jaw morphology A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. UMLS:C4280767 hp.json http://purl.obolibrary.org/obo/HP_0030791 HP:0030796 biolink:PhenotypicFeature Increased C-peptide level An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. UMLS:C4280763 hp.json Increased C peptide level http://purl.obolibrary.org/obo/HP_0030796 GO:0043436 biolink:BiologicalProcess oxoacid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). hp.json keto acid metabolic process|oxo acid metabolic process|ketoacid metabolism|oxoacid metabolism|ketoacid metabolic process|oxo acid metabolism|keto acid metabolism http://purl.obolibrary.org/obo/GO_0043436 HP:0030797 biolink:PhenotypicFeature Reduced volume of central subdivision of bed nucleus of stria terminalis A diminished volume of the central part of the bed nucleus of the stria terminalis. UMLS:C4280762 hp.json http://purl.obolibrary.org/obo/HP_0030797 HP:0030798 biolink:PhenotypicFeature Abnormality of the bed nucleus of stria terminalis The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus. UMLS:C4280761 hp.json http://purl.obolibrary.org/obo/HP_0030798 HP:0030799 biolink:PhenotypicFeature Scaphocephaly Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. UMLS:C0265534|SNOMEDCT_US:4191007|MSH:D003398 hp.json http://purl.obolibrary.org/obo/HP_0030799 MPATH:149 biolink:NamedThing squamous hyperplasia Benign proliferation of epidermal cells with hyperkeratosis. Variable growth pattern, regular to papillary (exophytic squamous cell hyperplasia). hp.json squamous cell hyperplasia|epidermal hyperplasia. http://purl.obolibrary.org/obo/MPATH_149 HP:0040111 biolink:PhenotypicFeature obsolete Bilateral external ear deformity hp.json http://purl.obolibrary.org/obo/HP_0040111 HP:0040112 biolink:PhenotypicFeature Abnormal number of tubercles UMLS:C4022431 hp.json http://purl.obolibrary.org/obo/HP_0040112 CHEBI:138366 biolink:ChemicalSubstance bile acids Any member of a group of hydroxy steroids occuring in bile, where they are present as the sodium salts of their amides with glycine or taurine. In mammals bile acids almost invariably have 5beta-configuration, while in lower vertebrates, some bile acids, known as allo-bile acids, have 5alpha-configuration. hp.json http://purl.obolibrary.org/obo/CHEBI_138366 3_STAR HP:0040110 biolink:PhenotypicFeature Morphological abnormality of the saccule UMLS:C4022433 hp.json http://purl.obolibrary.org/obo/HP_0040110 HP:0040126 biolink:PhenotypicFeature Abnormal vitamin B12 level A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. UMLS:C4021032 hp.json Abnormal serum cobalamin level http://purl.obolibrary.org/obo/HP_0040126 HP:0040127 biolink:PhenotypicFeature Abnormal sweat homeostasis An abnormality of the composition of sweat or the levels of its components. UMLS:C4022423 hp.json http://purl.obolibrary.org/obo/HP_0040127 HP:0040124 biolink:PhenotypicFeature obsolete Patent tuba eustachii hp.json http://purl.obolibrary.org/obo/HP_0040124 HP:0040128 biolink:PhenotypicFeature Abnormal sweat electrolytes UMLS:C4022422 hp.json http://purl.obolibrary.org/obo/HP_0040128 HP:0040129 biolink:PhenotypicFeature Abnormal nerve conduction velocity UMLS:C1866772 hp.json Abnormal nerve conduction|Nerve conduction abnormalities|Abnormal nerve conduction velocities http://purl.obolibrary.org/obo/HP_0040129 HP:0040122 biolink:PhenotypicFeature Impairment of the the acoustic reflex UMLS:C4022425 hp.json http://purl.obolibrary.org/obo/HP_0040122 HP:0040123 biolink:PhenotypicFeature Impairment of the reflex of the tensor tympani muscle UMLS:C4022424 hp.json http://purl.obolibrary.org/obo/HP_0040123 HP:0040120 biolink:PhenotypicFeature Abnormality of the reflex of the tensor tympani muscle UMLS:C4022427 hp.json http://purl.obolibrary.org/obo/HP_0040120 HP:0040121 biolink:PhenotypicFeature Abnormality of the acoustic reflex An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation. UMLS:C4022426 hp.json Abnormal auditory reflex|Abnormality of stapedial reflex|Abnormal middle-ear-muscles (MEM) reflex http://purl.obolibrary.org/obo/HP_0040121 UBERON:0015032 biolink:AnatomicalEntity pedal digit 2 phalanx endochondral element A pedal digit 2 phalanx bone or its cartilage or pre-cartilage precursor. hp.json pedal digit 2 phalanx element|pedal digit 2 phalanx skeletal element|pedal digit II phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015032 UBERON:0015031 biolink:AnatomicalEntity pedal digit 1 phalanx endochondral element A pedal digit 1 phalanx bone or its cartilage or pre-cartilage precursor. hp.json pedal digit 1 phalanx element|pedal digit 1 phalanx skeletal element|pedal digit I phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015031 UBERON:0015034 biolink:AnatomicalEntity pedal digit 4 phalanx endochondral element A pedal digit 4 phalanx bone or its cartilage or pre-cartilage precursor. hp.json pedal digit 4 phalanx element|pedal digit 4 phalanx skeletal element|pedal digit IV phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015034 UBERON:0015033 biolink:AnatomicalEntity pedal digit 3 phalanx endochondral element A pedal digit 3 phalanx bone or its cartilage or pre-cartilage precursor. hp.json pedal digit 3 phalanx element|pedal digit III phalanx endochondral element|pedal digit 3 phalanx skeletal element http://purl.obolibrary.org/obo/UBERON_0015033 UBERON:0017692 biolink:AnatomicalEntity internal surface of cranial base Internal (endosteal) surface of the base of skull. FMA:53128 hp.json basis cranii interna http://purl.obolibrary.org/obo/UBERON_0017692 pheno_slim UBERON:0015030 biolink:AnatomicalEntity pedal digit phalanx endochondral element A pedal digit phalanx bone or its cartilage or pre-cartilage precursor. hp.json pedal digit phalanx element|pedal digit phalanx skeletal element http://purl.obolibrary.org/obo/UBERON_0015030 UBERON:0017690 biolink:AnatomicalEntity internal surface of frontal bone FMA:52856 hp.json facies interna ossis frontalis|facies interna (os frontale) http://purl.obolibrary.org/obo/UBERON_0017690 pheno_slim UBERON:0015039 biolink:AnatomicalEntity pedal digit 3 metatarsal endochondral element A pedal digit 3 metatarsal bone or its cartilage or pre-cartilage precursor. hp.json pedal digit 3 metatarsal element|pedal digit 3 metatarsal skeletal element|pedal digit III metatarsal endochondral element http://purl.obolibrary.org/obo/UBERON_0015039 HP:0003109 biolink:PhenotypicFeature Hyperphosphaturia An increased excretion of phosphates in the urine. UMLS:C0948023|SNOMEDCT_US:22450000|UMLS:C0268079 hp.json High urine phosphate levels|Phosphaturia http://purl.obolibrary.org/obo/HP_0003109 UBERON:0015036 biolink:AnatomicalEntity pedal digit metatarsal endochondral element A pedal digit metatarsal bone or its cartilage or pre-cartilage precursor. hp.json pedal digit metatarsal element|pedal digit metatarsal skeletal element http://purl.obolibrary.org/obo/UBERON_0015036 UBERON:0015035 biolink:AnatomicalEntity pedal digit 5 phalanx endochondral element A pedal digit 5 phalanx bone or its cartilage or pre-cartilage precursor. hp.json pedal digit 5 phalanx element|pedal digit V phalanx endochondral element|pedal digit 5 phalanx skeletal element http://purl.obolibrary.org/obo/UBERON_0015035 UBERON:0015038 biolink:AnatomicalEntity pedal digit 2 metatarsal endochondral element A pedal digit 2 metatarsal bone or its cartilage or pre-cartilage precursor. hp.json pedal digit 2 metatarsal element|pedal digit II metatarsal endochondral element|pedal digit 2 metatarsal skeletal element http://purl.obolibrary.org/obo/UBERON_0015038 UBERON:0015037 biolink:AnatomicalEntity pedal digit 1 metatarsal endochondral element A pedal digit 1 metatarsal bone or its cartilage or pre-cartilage precursor. hp.json pedal digit 1 metatarsal skeletal element|pedal digit I metatarsal endochondral element|pedal digit 1 metatarsal element http://purl.obolibrary.org/obo/UBERON_0015037 UBERON:0003054 biolink:AnatomicalEntity roof plate A single row of glia at the dorsal midline of the developing neural tube along the entire anterior-posterior axis. This region provides inductive signals for the specification of neuronal cell types and of the specification of neural crest cells. The cells comprising the roof plate are the precursors to radial glial cells. VHOG:0000303|EHDAA:916|TAO:0007058|AAO:0011097|ZFA:0001436|EHDAA2:0001270|TAO:0001436|EMAPA:16168|EMAPA:35361|EHDAA:2891|ZFA:0007058 hp.json roof plate neural tube region|roofplate|future brain roof plate|alar plate|roof plate neural tube http://purl.obolibrary.org/obo/UBERON_0003054 uberon_slim|vertebrate_core|pheno_slim HP:0005767 biolink:PhenotypicFeature 1-2 toe complete cutaneous syndactyly UMLS:C4025140 hp.json http://purl.obolibrary.org/obo/HP_0005767 HP:0005768 biolink:PhenotypicFeature 2-4 toe cutaneous syndactyly A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. UMLS:C4021622 hp.json Soft tissue syndactyly of toes 2, 3, and 4|Webbed second, third and fourth toes|Webbed 2nd, 3rd and 4th toes http://purl.obolibrary.org/obo/HP_0005768 UBERON:0003055 biolink:AnatomicalEntity periderm A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. UMLS:C1518973|TAO:0001185|FMA:295662|XAO:0000029|EHDAA2:0001846|VHOG:0001680|EHDAA:6538|NCIT:C34247|ZFA:0001185 hp.json epidermis epithelial layer|periderm|epitrichium|EVL|skin periderm|epidermis outer layer http://purl.obolibrary.org/obo/UBERON_0003055 uberon_slim|pheno_slim HP:0003103 biolink:PhenotypicFeature Abnormal cortical bone morphology An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. UMLS:C4021741 hp.json Abnormal compact bone morphology|Abnormality of cortical bone http://purl.obolibrary.org/obo/HP_0003103 HP:0030735 biolink:PhenotypicFeature Ureterovesical junction obstruction Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle. UMLS:C2609249 hp.json http://purl.obolibrary.org/obo/HP_0030735 UBERON:0003052 biolink:AnatomicalEntity midbrain-hindbrain boundary The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. AAO:0011064|EHDAA2:0004395|XAO:0000016|DMBA:16810|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2076|EHDAA:5789|VHOG:0000649|EMAPA:32857|ZFA:0000042|NCIT:C93172|TAO:0000042 hp.json isthmus/MHB|isthmo-cerebellar region|mid-hindbrain boundary|isthmic organizer territory|midbrain hindbrain boundary|mid-hindbrain junction|isthmus|MHB http://purl.obolibrary.org/obo/UBERON_0003052 uberon_slim|vertebrate_core|pheno_slim HP:0005769 biolink:PhenotypicFeature Fifth finger distal phalanx clinodactyly Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). UMLS:C4025139|UMLS:C4280477 hp.json Curvature of outermost bone of pinkie finger|Curvature of outermost bone of pinky finger|Curvature of outermost bone of little finger http://purl.obolibrary.org/obo/HP_0005769 HP:0030736 biolink:PhenotypicFeature Sacrococcygeal teratoma A teratoma arising in the sacro-coccygeal region. UMLS:C0559459|SNOMEDCT_US:281561000 hp.json http://purl.obolibrary.org/obo/HP_0030736 HP:0003102 biolink:PhenotypicFeature Increased carrying angle An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. UMLS:C1855478 hp.json http://purl.obolibrary.org/obo/HP_0003102 MPATH:120 biolink:NamedThing ecchymosis A red/purple patch caused by extravasation of blood into the skin. Larger than petechiae. hp.json http://purl.obolibrary.org/obo/MPATH_120 HP:0030737 biolink:PhenotypicFeature Altman type I sacrococcygeal teratoma A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks. UMLS:C4280795 hp.json http://purl.obolibrary.org/obo/HP_0030737 HP:0003108 biolink:PhenotypicFeature Hyperglycinuria An increased concentration of glycine in the urine. MSH:C563009|SNOMEDCT_US:236477004|UMLS:C0543541|UMLS:C0341706 hp.json High urine glycine levels|Glycinuria http://purl.obolibrary.org/obo/HP_0003108 HP:0030730 biolink:PhenotypicFeature Parietal meningocele A herniation of meninges through a congenital bone defect in the skull in the parietal region. UMLS:C4280797 hp.json http://purl.obolibrary.org/obo/HP_0030730 UBERON:0003050 biolink:AnatomicalEntity olfactory placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. AAO:0011076|EFO:0003420|XAO:0000005|EHDAA:1504|ZFA:0000048|VHOG:0000186|EMAPA:16543|TAO:0000048|FMA:293971|EHDAA2:0001232 hp.json nasal I placode|olfactory placodes|placoda olfactoria|nasal placode|placoda nasalis http://purl.obolibrary.org/obo/UBERON_0003050 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0003051 biolink:AnatomicalEntity ear vesicle An epithelial sac of invaginated ectoderm formed from the otic placode that gives rise to the structures of the inner ear[MP]. TAO:0000051|VHOG:0001148|NCIT:C34240|EMAPA:16669|FMA:302920|BTO:0002661|XAO:0000006|AAO:0011080|UMLS:C1518678|ZFA:0000051|EHDAA2:0001342 hp.json otocyst|acoustic vesicle|OV|otic vesicle|auditory vesicle http://purl.obolibrary.org/obo/UBERON_0003051 vertebrate_core|pheno_slim HP:0005764 biolink:PhenotypicFeature Polyarticular arthritis UMLS:C0162323|MSH:D001168|SNOMEDCT_US:416956002|SNOMEDCT_US:417373000 hp.json http://purl.obolibrary.org/obo/HP_0005764 HP:0003107 biolink:PhenotypicFeature Abnormal circulating cholesterol concentration Any deviation from the normal concentration of cholesterol in the blood circulation. UMLS:C4025656 hp.json Abnormal cholesterol homeostasis|Abnormality of cholesterol metabolism http://purl.obolibrary.org/obo/HP_0003107 HP:0030731 biolink:PhenotypicFeature Carcinoma A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). NCIT:C2916|UMLS:C0007097|SNOMEDCT_US:68453008|MSH:D002277 hp.json http://purl.obolibrary.org/obo/HP_0030731 HP:0005765 biolink:PhenotypicFeature Sacral meningocele SNOMEDCT_US:95478002|UMLS:C0521556 hp.json http://purl.obolibrary.org/obo/HP_0005765 HP:0030732 biolink:PhenotypicFeature Dysplastic tricuspid valve A congenital malformation of the tricuspid valve characterized by leaflet deformation. UMLS:C4255215 hp.json Tricuspid valve dysplasia http://purl.obolibrary.org/obo/HP_0030732 HP:0003106 biolink:PhenotypicFeature Subperiosteal bone resorption Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. UMLS:C1848541 hp.json Subperiosteal erosions http://purl.obolibrary.org/obo/HP_0003106 HP:0005766 biolink:PhenotypicFeature Disproportionate shortening of the tibia UMLS:C3806516 hp.json Disproportionate shortening of the shinbone|Disproportionate shortening of the shankbone|Marked shortening of tibia http://purl.obolibrary.org/obo/HP_0005766 MPATH:124 biolink:NamedThing infarct An area of necrosis resulting from a sudden cessation of arterial or venous blood supply. hp.json http://purl.obolibrary.org/obo/MPATH_124 HP:0003105 biolink:PhenotypicFeature Protuberances at ends of long bones The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. UMLS:C1851418 hp.json Protuberances at ends of long bones http://purl.obolibrary.org/obo/HP_0003105 HP:0030733 biolink:PhenotypicFeature Vesicoallantoic abdominal wall defect An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst. UMLS:C4280796 hp.json http://purl.obolibrary.org/obo/HP_0030733 MPATH:126 biolink:NamedThing growth and differentiation defect Defects in growth (changes in proliferation or mass) and differentiation of cells tissues or organs. hp.json http://purl.obolibrary.org/obo/MPATH_126 HP:0003100 biolink:PhenotypicFeature Slender long bone Reduced diameter of a long bone. UMLS:C1833144 hp.json Slender, gracile long tubular bones|Long bones slender|Slender long bone|Slender long bones|Thin gracile long bones|Thin long bones|Gracile long bones|Thin, gracile long bones http://purl.obolibrary.org/obo/HP_0003100 HP:0030738 biolink:PhenotypicFeature Altman type II sacrococcygeal teratoma A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component. UMLS:C4280794 hp.json http://purl.obolibrary.org/obo/HP_0030738 UBERON:0003059 biolink:AnatomicalEntity presomitic mesoderm Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. EFO:0001982|AAO:0011086|ZFA:0000279|EMAPA:16752|XAO:0000057|EMAPA:16189|TAO:0000279|VHOG:0000559 hp.json unsegmented paraxial mesoderm|PSM|somitogenic mesoderm|segmental plate|unsegmented mesenchyme|somitomeric mesoderm|unsegmented paraxial mesoderm|presumptive somite mesoderm http://purl.obolibrary.org/obo/UBERON_0003059 pheno_slim|efo_slim HP:0030739 biolink:PhenotypicFeature Altman type III sacrococcygeal teratoma A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass. UMLS:C4280793 hp.json http://purl.obolibrary.org/obo/HP_0030739 UBERON:0003056 biolink:AnatomicalEntity pre-chordal neural plate The portion of neural plate anterior to the mid-hindbrain junction. TAO:0007016|VHOG:0001200|AAO:0011084|XAO:0000045|ZFA:0007016 hp.json anterior neural plate http://purl.obolibrary.org/obo/UBERON_0003056 UBERON:0003057 biolink:AnatomicalEntity chordal neural plate The portion of neural plate posterior to the mid-hindbrain junction. TAO:0007017|VHOG:0001201|XAO:0000046|ZFA:0007017 hp.json posterior neural plate http://purl.obolibrary.org/obo/UBERON_0003057 UBERON:0015021 biolink:AnatomicalEntity forelimb endochondral element A forelimb bone or its cartilage or pre-cartilage precursor. hp.json forelimb skeletal element http://purl.obolibrary.org/obo/UBERON_0015021 UBERON:0015023 biolink:AnatomicalEntity phalanx endochondral element A phalanx bone or its cartilage or pre-cartilage precursor. hp.json phalanx element|phalanx skeletal element http://purl.obolibrary.org/obo/UBERON_0015023 UBERON:0015022 biolink:AnatomicalEntity hindlimb endochondral element A hindlimb bone or its cartilage or pre-cartilage precursor. hp.json hindlimb bone skeletal element http://purl.obolibrary.org/obo/UBERON_0015022 UBERON:0015029 biolink:AnatomicalEntity manual digit 5 phalanx endochondral element A manual digit 5 phalanx bone or its cartilage or pre-cartilage precursor. hp.json manual digit V phalanx endochondral element|manual digit 5 phalanx element|manual digit 5 phalanx skeletal element http://purl.obolibrary.org/obo/UBERON_0015029 UBERON:0015028 biolink:AnatomicalEntity manual digit 4 phalanx endochondral element A manual digit 4 phalanx bone or its cartilage or pre-cartilage precursor. hp.json manual digit IV phalanx endochondral element|manual digit 4 phalanx skeletal element|manual digit 4 phalanx element http://purl.obolibrary.org/obo/UBERON_0015028 HP:0030740 biolink:PhenotypicFeature Anomalous muscle bundle of the right ventricle An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract. UMLS:C4280792 hp.json Right ventricular anomalous muscle bundle http://purl.obolibrary.org/obo/HP_0030740 UBERON:0015025 biolink:AnatomicalEntity manual digit 1 phalanx endochondral element A manual digit 1 phalanx bone or its cartilage or pre-cartilage precursor. hp.json manual digit 1 phalanx skeletal element|manual digit I phalanx endochondral element|manual digit 1 phalanx element http://purl.obolibrary.org/obo/UBERON_0015025 UBERON:0015024 biolink:AnatomicalEntity manual digit phalanx endochondral element A manual digit phalanx bone or its cartilage or pre-cartilage precursor. hp.json manual digit phalanx skeletal element|manual digit phalanx element http://purl.obolibrary.org/obo/UBERON_0015024 UBERON:0015027 biolink:AnatomicalEntity manual digit 3 phalanx endochondral element A manual digit 3 phalanx bone or its cartilage or pre-cartilage precursor. hp.json manual digit III phalanx endochondral element|manual digit 3 phalanx skeletal element|manual digit 3 phalanx element http://purl.obolibrary.org/obo/UBERON_0015027 UBERON:0015026 biolink:AnatomicalEntity manual digit 2 phalanx endochondral element A manual digit 2 phalanx bone or its cartilage or pre-cartilage precursor. hp.json manual digit 2 phalanx skeletal element|manual digit II phalanx endochondral element|manual digit 2 phalanx element http://purl.obolibrary.org/obo/UBERON_0015026 HP:0030745 biolink:PhenotypicFeature Dilatation of the ductus arteriosus Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end. SNOMEDCT_US:233990006|UMLS:C0398357 hp.json Ductus arteriosus aneurysm|Aneurysm of the ductus arteriosus|Congenital ductus arteriosus aneurysm http://purl.obolibrary.org/obo/HP_0030745 UBERON:0003043 biolink:AnatomicalEntity posterior part of anterior commissure The major forebrain commissure that connects the two temporal lobes of the cortex. EMAPA:37410|MBA:908|UMLS:C0175210|BAMS:act|FMA:61964|BIRNLEX:977|BAMS:acp hp.json anterior commissure, temporal limb|commissura anterior, crus posterius|anterior commissure temporal limb|anterior commissure pars posterior|commissura anterior, pars posterior|commissura rostralis, pars posterior|anterior commissure, posterior part|temporal limb of anterior commissure|pars posterior commissurae anterioris|pars posterior http://purl.obolibrary.org/obo/UBERON_0003043 pheno_slim HP:0003115 biolink:PhenotypicFeature Abnormal EKG Abnormal rhythm of the heart. SNOMEDCT_US:102594003|UMLS:C0522055 hp.json Abnormal EKG|EKG abnormality|Abnormal electrocardiogram|Abnormal ECG http://purl.obolibrary.org/obo/HP_0003115 HP:0030746 biolink:PhenotypicFeature Intraventricular hemorrhage Bleeding into the ventricles of the brain. UMLS:C0240059|SNOMEDCT_US:23276006 hp.json Intraventricular haemorrhage http://purl.obolibrary.org/obo/HP_0030746 HP:0003114 biolink:PhenotypicFeature obsolete Abnormal cardiological findings hp.json http://purl.obolibrary.org/obo/HP_0003114 UBERON:0003041 biolink:AnatomicalEntity trigeminal nerve fibers A nerve fiber that is part of a trigeminal nerve. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=607|UMLS:C0175452|FMA:72501|BIRNLEX:974|BAMS:5nf hp.json trigeminal nerve fibers|fibrae nervi trigemini|central part of trigeminal nerve|trigeminal nerve tract http://purl.obolibrary.org/obo/UBERON_0003041 HP:0030747 biolink:PhenotypicFeature Preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a premature infant. UMLS:C4280789 hp.json Preterm intraventricular haemorrhage http://purl.obolibrary.org/obo/HP_0030747 HP:0003113 biolink:PhenotypicFeature Hypochloremia An abnormally decreased chloride concentration in the blood. SNOMEDCT_US:10399008|UMLS:C0085680|UMLS:C0595901 hp.json Low blood chloride levels http://purl.obolibrary.org/obo/HP_0003113 HP:0003112 biolink:PhenotypicFeature Abnormal circulating amino acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. UMLS:C4025653 hp.json Abnormality of serum amino acid levels|Abnormality of serum amino acid level http://purl.obolibrary.org/obo/HP_0003112 PR:P08101 biolink:Protein low affinity immunoglobulin gamma Fc region receptor II (mouse) A low affinity immunoglobulin gamma Fc region receptor II that is encoded in the genome of mouse. UniProtKB:P08101 hp.json Fc gamma receptor IIB (mouse)|lymphocyte antigen 17 (mouse)|Fc-gamma RII (mouse)|IgG Fc receptor II beta (mouse)|Fcgr2|mFcgr2|Fc-gamma-RIIB (mouse)|Fcgr2b|FcRII (mouse)|Ly-17|CD32 (mouse) http://purl.obolibrary.org/obo/PR_P08101 HP:0030748 biolink:PhenotypicFeature Grade I preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove. UMLS:C0475737|SNOMEDCT_US:276650005 hp.json Grade I preterm intraventricular haemorrhage|Germinal matrix haemorrhage|Germinal matrix hemorrhage http://purl.obolibrary.org/obo/HP_0030748 HP:0003119 biolink:PhenotypicFeature Abnormal circulating lipid concentration Any deviation from the normal concentration of a lipid in the blood circulation. UMLS:C0242339|MSH:D050171|SNOMEDCT_US:370992007|UMLS:C4025650 hp.json Dyslipidaemia|Dyslipidemia http://purl.obolibrary.org/obo/HP_0003119 HP:0030741 biolink:PhenotypicFeature Mediastinal teratoma A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs). UMLS:C1334682|NCIT:C6438 hp.json Teratoma of the mediastinum http://purl.obolibrary.org/obo/HP_0030741 HP:0003118 biolink:PhenotypicFeature Increased circulating cortisol level Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. SNOMEDCT_US:237735008|UMLS:C0001622|UMLS:C4025651|UMLS:C0342443|MSH:D000308|SNOMEDCT_US:275437005|SNOMEDCT_US:47270006 hp.json Hypercortisolism|Increased circulating cortisol level|Cushing syndrome|Increased cortisol production http://purl.obolibrary.org/obo/HP_0003118 HP:0030742 biolink:PhenotypicFeature Glial remnants posterior to lens This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot. SNOMEDCT_US:370483001|UMLS:C1299892 hp.json Mittendorf dot http://purl.obolibrary.org/obo/HP_0030742 HP:0005775 biolink:PhenotypicFeature Multiple skeletal anomalies UMLS:C4025138 hp.json http://purl.obolibrary.org/obo/HP_0005775 HP:0005776 biolink:PhenotypicFeature Carpal bone malsegmentation UMLS:C4025137 hp.json http://purl.obolibrary.org/obo/HP_0005776 HP:0003117 biolink:PhenotypicFeature Abnormal circulating hormone concentration An abnormal concentration of a hormone in the blood. UMLS:C4025652 hp.json Abnormal circulating hormone level|Abnormality of circulating hormone level http://purl.obolibrary.org/obo/HP_0003117 HP:0030743 biolink:PhenotypicFeature Glial remnants anterior to the optic disc Persistance of a posterior remnant of the hyaloid artery located at the optic disc. UMLS:C4280791 hp.json Bergmeister papilla http://purl.obolibrary.org/obo/HP_0030743 HP:0030744 biolink:PhenotypicFeature Hyaloid vascular remnant and retrolental mass A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. UMLS:C4280790 hp.json http://purl.obolibrary.org/obo/HP_0030744 HP:0003116 biolink:PhenotypicFeature Abnormal echocardiogram hp.json http://purl.obolibrary.org/obo/HP_0003116 HP:0005772 biolink:PhenotypicFeature Aplasia/Hypoplasia of the tibia Absence or underdevelopment of the tibia. UMLS:C1969181 hp.json Absent/hypoplastic tibia|Absent/underdeveloped shinbone|Absent/small shankbone|Absent/small shinbone|Aplastic/hypoplastic tibia|Absent/underdeveloped shankbone http://purl.obolibrary.org/obo/HP_0005772 HP:0005773 biolink:PhenotypicFeature Short forearm Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. UMLS:C1855299 hp.json Short forearm http://purl.obolibrary.org/obo/HP_0005773 HP:0003111 biolink:PhenotypicFeature Abnormal blood ion concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. UMLS:C4025654|SNOMEDCT_US:237840007|UMLS:C1704431 hp.json Electrolyte disturbance|Abnormality of ion homeostasis|Electrolyte disorders http://purl.obolibrary.org/obo/HP_0003111 HP:0030749 biolink:PhenotypicFeature Grade II preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle. UMLS:C4280788 hp.json Grade II preterm intraventricular haemorrhage http://purl.obolibrary.org/obo/HP_0030749 HP:0003110 biolink:PhenotypicFeature Abnormality of urine homeostasis An abnormality of the composition of urine or the levels of its components. UMLS:C4025655 hp.json Pee issues|Urine issues http://purl.obolibrary.org/obo/HP_0003110 MPATH:119 biolink:NamedThing hemorrhage and non-specified extravasation Abnormal release of whole blood or the cellular component from the circulation. hp.json http://purl.obolibrary.org/obo/MPATH_119 UBERON:0015010 biolink:AnatomicalEntity sacral vertebra endochondral element A vertebra endochondral element that is part of the sacral region of the vertebral column. hp.json sacral vertebra element|sacral vertebra skeletal element http://purl.obolibrary.org/obo/UBERON_0015010 UBERON:0017671 biolink:AnatomicalEntity bony part of vertebral arch of first sacral vertebra A bony part of vertebral arch that is part of a sacral vertebra 1. FMA:32395 hp.json bony part of vertebral arch of first sacral segment http://purl.obolibrary.org/obo/UBERON_0017671 pheno_slim UBERON:0017672 biolink:AnatomicalEntity abdominal viscera A viscus that is part of a abdomen. FMA:32413|FMA:67355 hp.json set of abdominal viscera|abdominal viscera set|abdominal viscera http://purl.obolibrary.org/obo/UBERON_0017672 pheno_slim UBERON:0017670 biolink:AnatomicalEntity bony part of cervical vertebral arch A bony part of vertebral arch that is part of a cervical vertebral arch. FMA:29794 hp.json bony part of arch of cervical vertebra http://purl.obolibrary.org/obo/UBERON_0017670 pheno_slim UBERON:0015018 biolink:AnatomicalEntity malleus endochondral element A malleus bone or its cartilage or pre-cartilage precursor. hp.json malleus skeletal element|malleus element|malleus http://purl.obolibrary.org/obo/UBERON_0015018 UBERON:0015017 biolink:AnatomicalEntity incus endochondral element An incus bone or its cartilage or pre-cartilage precursor. hp.json incus skeletal element|incus element http://purl.obolibrary.org/obo/UBERON_0015017 HP:0030750 biolink:PhenotypicFeature Grade III preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles. UMLS:C4280787 hp.json Grade III preterm intraventricular haemorrhage http://purl.obolibrary.org/obo/HP_0030750 HP:0030751 biolink:PhenotypicFeature Grade IV preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension. UMLS:C4280786 hp.json Grade IV preterm intraventricular haemorrhage http://purl.obolibrary.org/obo/HP_0030751 UBERON:0015019 biolink:AnatomicalEntity rib endochondral element A rib bone or its cartilage or pre-cartilage precursor. hp.json rib skeletal element|rib element http://purl.obolibrary.org/obo/UBERON_0015019 UBERON:0015014 biolink:AnatomicalEntity calcaneum endochondral element A calcaneum bone or its cartilage or pre-cartilage precursor. hp.json calcaneum skeletal element|calcaneum element http://purl.obolibrary.org/obo/UBERON_0015014 UBERON:0015013 biolink:AnatomicalEntity fibula endochondral element The major postaxial endochondral element in the posterior zeugopod[Phenoscape]. hp.json fibula skeletal element|fibula element http://purl.obolibrary.org/obo/UBERON_0015013 UBERON:0015016 biolink:AnatomicalEntity stapes endochondral element A stapes bone or its cartilage or pre-cartilage precursor. hp.json stapes skeletal element|stapes element http://purl.obolibrary.org/obo/UBERON_0015016 HP:0030756 biolink:PhenotypicFeature Erythrodontia Reddish, brown opalescent discoloration of teeth in normal light. UMLS:C4280783 hp.json Red teeth http://purl.obolibrary.org/obo/HP_0030756 UBERON:0005695 biolink:AnatomicalEntity manual digit 5 mesenchyme Mesenchyme that is part of a developing manual digit 5. EHDAA2:0000537|EMAPA:17443 hp.json hand digit 5 mesenchyme|fore limb digit 5 mesenchyme|manual digit V mesenchyme http://purl.obolibrary.org/obo/UBERON_0005695 HP:0005745 biolink:PhenotypicFeature Congenital foot contractures UMLS:C4025144 hp.json http://purl.obolibrary.org/obo/HP_0005745 HP:0030757 biolink:PhenotypicFeature Tooth abscess A pocket of pus located within a region of a tooth. UMLS:C0518988|SNOMEDCT_US:299709002 hp.json Dental abscess|Dentoalveolar abscess http://purl.obolibrary.org/obo/HP_0030757 HP:0005746 biolink:PhenotypicFeature Osteosclerosis of the base of the skull An increase in bone density affecting the basicranium (base of the skull). UMLS:C4021624 hp.json Osteosclerosis of the skull base http://purl.obolibrary.org/obo/HP_0005746 UBERON:0005694 biolink:AnatomicalEntity manual digit 4 mesenchyme Mesenchyme that is part of a developing manual digit 4. EMAPA:17440|EHDAA2:0000531 hp.json hand digit 4 mesenchyme|fore limb digit 4 mesenchyme|manual digit IV mesenchyme http://purl.obolibrary.org/obo/UBERON_0005694 HP:0030758 biolink:PhenotypicFeature Periapical tooth abscess A tooth abscess that occurs at the tip of the root (apex) of a tooth. UMLS:C4280782 hp.json http://purl.obolibrary.org/obo/HP_0030758 UBERON:0005693 biolink:AnatomicalEntity manual digit 3 mesenchyme Mesenchyme that is part of a developing manual digit 3. EMAPA:17437|EHDAA2:0000525 hp.json manual digit III mesenchyme|hand digit 3 mesenchyme|fore limb digit 3 mesenchyme http://purl.obolibrary.org/obo/UBERON_0005693 HP:0005747 biolink:PhenotypicFeature Easily subluxated first metacarpophalangeal joints UMLS:C4025143 hp.json http://purl.obolibrary.org/obo/HP_0005747 UBERON:0005692 biolink:AnatomicalEntity manual digit 2 mesenchyme Mesenchyme that is part of a developing manual digit 2. EHDAA2:0000519|EMAPA:17434 hp.json manual digit II mesenchyme|hand digit 2 mesenchyme|fore limb digit 2 mesenchyme http://purl.obolibrary.org/obo/UBERON_0005692 HP:0030759 biolink:PhenotypicFeature Adipocyte hypertrophy An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy. UMLS:C4280781 hp.json Fat cell hypertrophy http://purl.obolibrary.org/obo/HP_0030759 UBERON:0005691 biolink:AnatomicalEntity 4th arch mesenchyme Mesenchyme that is part of a pharyngeal arch 4. EHDAA2:0000096|EHDAA:1677|VHOG:0001052|FMA:295702|EMAPA:16770 hp.json 4th pharyngeal arch mesenchyme|4th branchial arch mesenchyme|pharyngeal arch 4 mesenchyme http://purl.obolibrary.org/obo/UBERON_0005691 HP:0030752 biolink:PhenotypicFeature Dacryocystocele A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve. UMLS:C0155241|SNOMEDCT_US:42758002 hp.json Timo cyst http://purl.obolibrary.org/obo/HP_0030752 UBERON:0005690 biolink:AnatomicalEntity 3rd arch mesenchyme Mesenchyme that is part of a pharyngeal arch 3. EHDAA:1094|EMAPA:16402|EHDAA2:0000081|VHOG:0001083|FMA:295700 hp.json 3rd branchial arch mesenchyme|pharyngeal arch 3 mesenchyme|3rd pharyngeal arch mesenchyme http://purl.obolibrary.org/obo/UBERON_0005690 HP:0030753 biolink:PhenotypicFeature Intrauterine fetal demise of one twin after midgestation Loss of one twin occurring after midgestation (17 weeks gestation). UMLS:C4280785 hp.json Intrauterine foetal demise of one twin after midgestation|Single-twin demise http://purl.obolibrary.org/obo/HP_0030753 HP:0005743 biolink:PhenotypicFeature Avascular necrosis of the capital femoral epiphysis Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. SNOMEDCT_US:111255008|ICD-10:M91.1|SNOMEDCT_US:240241003|UMLS:C0023234|MSH:D007873 hp.json Perthes-like femoral head changes|Legg-Perthes disease|Legg-Calve-Perthes syndrome|Osteonecrosis of the femoral head|Coxa plana|Osteochondrosis of the femoral head|Morbus Legg-Calve-Perthes http://purl.obolibrary.org/obo/HP_0005743 HP:0030754 biolink:PhenotypicFeature Allantoic cyst A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly. MSH:D014496|SNOMEDCT_US:17234001|UMLS:C0041915 hp.json http://purl.obolibrary.org/obo/HP_0030754 HP:0030755 biolink:PhenotypicFeature Craniofacial teratoma A teratoma located in the craniofacial region. UMLS:C4280784|NCIT:C3403 hp.json http://purl.obolibrary.org/obo/HP_0030755 HP:0005744 biolink:PhenotypicFeature obsolete Generalized osteoporosis with pathologic fractures hp.json http://purl.obolibrary.org/obo/HP_0005744 MPATH:105 biolink:NamedThing circulatory disorder Lesions leading to or consequent on failure of, or atypical movement of, blood throughout the body. hp.json http://purl.obolibrary.org/obo/MPATH_105 UBERON:0003038 biolink:AnatomicalEntity thoracic spinal cord The thoracic nerves are the spinal nerves emerging from the thoracic vertebrae. [WP,unvetted]. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1718|BIRNLEX:966|NCIT:C12894|FMA:71167|UMLS:C0581620|Wikipedia:Thoracic_spinal_cord|UMLS:C0581620|MA:0003082|SCTID:278750009 hp.json thoracic segment of spinal cord|pars thoracica medullae spinalis|thoracic segments of spinal cord [1-12]|thoracic region of spinal cord|segmenta thoracica medullae spinalis [1-12]|thoracic spinal cord http://purl.obolibrary.org/obo/UBERON_0003038 uberon_slim UBERON:0003039 biolink:AnatomicalEntity anterior commissure anterior part The horseshoe-shaped tract that connects the two olfactory bulbs. FMA:61963|MBA:900|BAMS:aca|EMAPA:37404|BAMS:aco|BIRNLEX:969 hp.json commissura anterior, pars anterior|commissura anterior, crus anterius|pars anterior|olfactory limb of anterior commissure|olfactory part of anterior commissure|anterior commissure, anterior part|commissura anterior, pars olfactoria|anterior commissure olfactory limb|anterior part of anterior commissure|anterior commissure pars anterior|anterior commissure, olfactory limb|anterior part of anterior commissure|pars anterior commissurae anterioris|pars olfactoria commissurae anterioris|commissura rostralis, pars anterior http://purl.obolibrary.org/obo/UBERON_0003039 pheno_slim UBERON:0005699 biolink:AnatomicalEntity pedal digit 5 mesenchyme Mesenchyme that is part of a developing pedal digit 5. EHDAA2:0002059|EMAPA:17474 hp.json hind limb digit 5 mesenchyme|pedal digit V mesenchyme|foot digit 5 mesenchyme http://purl.obolibrary.org/obo/UBERON_0005699 UBERON:0003037 biolink:AnatomicalEntity septum A wall, dividing a cavity or structure into smaller ones[WP]. AAO:0011127|OpenCyc:Mx4rrqot_on_EdaAAAACs0uFOQ|Wikipedia:Septum|FMA:86461 hp.json septa http://purl.obolibrary.org/obo/UBERON_0003037 pheno_slim UBERON:0005698 biolink:AnatomicalEntity pedal digit 4 mesenchyme Mesenchyme that is part of a developing pedal digit 4. EMAPA:17471|EHDAA2:0002054 hp.json foot digit 4 mesenchyme|pedal digit IV mesenchyme|hind limb digit 4 mesenchyme http://purl.obolibrary.org/obo/UBERON_0005698 UBERON:0005697 biolink:AnatomicalEntity pedal digit 3 mesenchyme Mesenchyme that is part of a developing pedal digit 3. EMAPA:17468|EHDAA2:0002049 hp.json foot digit 3 mesenchyme|pedal digit III mesenchyme|hind limb digit 3 mesenchyme http://purl.obolibrary.org/obo/UBERON_0005697 UBERON:0005696 biolink:AnatomicalEntity pedal digit 2 mesenchyme Mesenchyme that is part of a developing pedal digit 2. EHDAA2:0002044|EMAPA:17465 hp.json foot digit 2 mesenchyme|hind limb digit 2 mesenchyme|pedal digit II mesenchyme http://purl.obolibrary.org/obo/UBERON_0005696 UBERON:0015001 biolink:AnatomicalEntity radius endochondral element The major preaxial endrochondral skeletal element in the anterior zeugopod. hp.json radius element|radius skeletal element http://purl.obolibrary.org/obo/UBERON_0015001 UBERON:0015007 biolink:AnatomicalEntity cervical vertebra endochondral element A vertebral endochondral element in the cervical region of the vertebral column. hp.json cervical vertebra element|cervical vertebra skeletal element http://purl.obolibrary.org/obo/UBERON_0015007 HP:0030760 biolink:PhenotypicFeature Renal fibrosis Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. UMLS:C0151650|SNOMEDCT_US:197660000 hp.json Kidney fibrosis http://purl.obolibrary.org/obo/HP_0030760 HGNC:4057 biolink:Gene G6PD (human) A protein coding gene G6PD in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4057 HP:0030761 biolink:PhenotypicFeature obsolete Renal glomerular fibrosis hp.json http://purl.obolibrary.org/obo/HP_0030761 UBERON:0015009 biolink:AnatomicalEntity lumbar vertebra endochondral element A lumbar vertebra bone or its cartilage or pre-cartilage precursor. hp.json lumbar vertebra skeletal element|lumbar vertebra element http://purl.obolibrary.org/obo/UBERON_0015009 UBERON:0015008 biolink:AnatomicalEntity thoracic vertebra endochondral element A vertebral endochondral element in the thoracic region of the vertebral column. hp.json thoracic vertebra element|thoracic vertebra skeletal element http://purl.obolibrary.org/obo/UBERON_0015008 HP:0030762 biolink:PhenotypicFeature Mesangiolysis Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. UMLS:C4054531 hp.json http://purl.obolibrary.org/obo/HP_0030762 UBERON:0015003 biolink:AnatomicalEntity ulna endochondral element Major postaxial endrochondral skeletal element in the anterior zeugopod. hp.json ulna skeletal element|ulna element http://purl.obolibrary.org/obo/UBERON_0015003 UBERON:0015002 biolink:AnatomicalEntity radius-ulna endochondral element A radius-ulna bone or its cartilage or pre-cartilage precursor. hp.json radius-ulna element|radius-ulna skeletal element http://purl.obolibrary.org/obo/UBERON_0015002 UBERON:0015004 biolink:AnatomicalEntity tibia endochondral element The major preaxial endochondral element in the posterior zeugopod[Phenoscape]. hp.json tibia skeletal element|tibia element http://purl.obolibrary.org/obo/UBERON_0015004 HP:0005756 biolink:PhenotypicFeature Neonatal epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. UMLS:C4021623 hp.json Speckled calcifications in bone end parts in neonates|Epiphyseal stippling in neonates http://purl.obolibrary.org/obo/HP_0005756 HP:0030767 biolink:PhenotypicFeature Epignathus Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate. SNOMEDCT_US:31248004|UMLS:C0266725 hp.json http://purl.obolibrary.org/obo/HP_0030767 HP:0030769 biolink:PhenotypicFeature Exencephaly A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium. SNOMEDCT_US:84461004|MSH:D009436|UMLS:C0266453 hp.json http://purl.obolibrary.org/obo/HP_0030769 HP:0005758 biolink:PhenotypicFeature Basilar impression Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. UMLS:C0032209|SNOMEDCT_US:86587003|MSH:D010985 hp.json http://purl.obolibrary.org/obo/HP_0005758 HP:0005759 biolink:PhenotypicFeature Small flat posterior fossa An abnormally small and flat configuration of the posterior cranial fossa. UMLS:C4025141 hp.json Small and flat posterior skull bones|Small and flat posterior fossa of skull http://purl.obolibrary.org/obo/HP_0005759 HP:0030763 biolink:PhenotypicFeature Amniotic Sheet A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion. UMLS:C4280779 hp.json Amniotic shelf http://purl.obolibrary.org/obo/HP_0030763 HP:0005752 biolink:PhenotypicFeature Flattened moderately deformed vertebrae UMLS:C4025142 hp.json http://purl.obolibrary.org/obo/HP_0005752 HP:0030764 biolink:PhenotypicFeature Ochronosis Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. MSH:D009794|UMLS:C0028817|SNOMEDCT_US:410042009 hp.json http://purl.obolibrary.org/obo/HP_0030764 HP:0030765 biolink:PhenotypicFeature Sleep terror Episodes of intense fear, screaming and flailing although affected individuals are still asleep. UMLS:C0037320|MSH:D020184|SNOMEDCT_US:89675003 hp.json Sleep terrors|Pavor nocturnus|Night terror http://purl.obolibrary.org/obo/HP_0030765 HP:0030766 biolink:PhenotypicFeature Ear pain Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). SNOMEDCT_US:16001004|MSH:D004433|UMLS:C0013456|SNOMEDCT_US:162356005 hp.json Ear pain|Otalgia|Pain in the ear http://purl.obolibrary.org/obo/HP_0030766 HP:0005750 biolink:PhenotypicFeature Lower-limb joint contracture A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. UMLS:C1859523 hp.json Contractures, lower limbs|Contractures of the joints of the lower limbs http://purl.obolibrary.org/obo/HP_0005750 UBERON:0005689 biolink:AnatomicalEntity 2nd arch mesenchyme Mesenchyme that is part of a pharyngeal arch 2. EHDAA2:0000066|FMA:295698|VHOG:0001102|EHDAA:625|EMAPA:16279 hp.json 2nd branchial arch mesenchyme|pharyngeal arch 2 mesenchyme|2nd pharyngeal arch mesenchyme http://purl.obolibrary.org/obo/UBERON_0005689 UBERON:0005688 biolink:AnatomicalEntity lens vesicle cavity An anatomical cavity that is part of a lens vesicle. EMAPA:17164|VHOG:0000531|EHDAA2:0000986 hp.json cavity of lens vesicle|cavity of lens|lens cavity http://purl.obolibrary.org/obo/UBERON_0005688 UBERON:0005687 biolink:AnatomicalEntity orbitosphenoid cartilage element An orbitosphenoid endochondral element that is composed primarily of cartilage tissue. EHDAA:9554|EHDAA2:0001329 hp.json sphenoid lesser wing cartilage element http://purl.obolibrary.org/obo/UBERON_0005687 UBERON:0003023 biolink:AnatomicalEntity pontine tegmentum Dorsal portion of the pons, containing cranial nervee nuclei, ascending and descending tracts and reticular nuclei. It is continuous with the reticular formation of the medulla (Carpenter, A Core Text of Neuroanatomy, 3rd ed, 1985, pg 133). SCTID:362401009|Wikipedia:Pontine_tegmentum|DHBA:12416|FMA:71108|MESH:D065821|BAMS:PTg|HBA:9135|BIRNLEX:923|UMLS:C0228426|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=557 hp.json dorsal pons|tegmentum of pons|tegmentum pontis|tegmental portion of pons|pars dorsalis pontis|pars posterior pontis|tegmentum pontis|tegmentum pontis|dorsal portion of pons http://purl.obolibrary.org/obo/UBERON_0003023 human_reference_atlas|uberon_slim UBERON:0005685 biolink:AnatomicalEntity midgut dorsal mesentery A dorsal mesentery that is part of a midgut. EMAPA:18671|EMAPA:17040|EMAPA:16722|RETIRED_EHDAA2:0001187 hp.json http://purl.obolibrary.org/obo/UBERON_0005685 UBERON:0015078 biolink:AnatomicalEntity proximal carpal endochondral element A proximal mesopodial endochondral element that is part of a forelimb. hp.json proximal carpal|proximal carpal element http://purl.obolibrary.org/obo/UBERON_0015078 UBERON:0015077 biolink:AnatomicalEntity centrale cartilage A centrale endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015077 UBERON:0003091 biolink:AnatomicalEntity thyroid primordium The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. EHDAA:952|AAO:0011106|NCIT:C34312|EMAPA:16361|UMLS:C1519512|EHDAA2:0002033|ZFA:0001081|XAO:0000444|TAO:0001081|BTO:0004709 hp.json thyroid primordia http://purl.obolibrary.org/obo/UBERON_0003091 vertebrate_core UBERON:0015079 biolink:AnatomicalEntity proximal carpal cartilage A proximal carpal endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015079 UBERON:0003098 biolink:AnatomicalEntity optic stalk The narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain. EHDAA2:0001318|ZFA:0000137|XAO:0000475|TAO:0000137|NCIT:C34235|UMLS:C0231107|AAO:0011077|VHOG:0000223|EHDAA:3816|EMAPA:16678 hp.json pedunculus opticus|optic stalks http://purl.obolibrary.org/obo/UBERON_0003098 uberon_slim|vertebrate_core|pheno_slim HP:0003148 biolink:PhenotypicFeature Elevated serum acid phosphatase UMLS:C1839866 hp.json Elevated serum acid phosphatase|Acid phosphatase elevated http://purl.obolibrary.org/obo/HP_0003148 UBERON:0003099 biolink:AnatomicalEntity cranial neural crest Neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. Wikipedia:Cranial_neural_crest|VHOG:0000063|XAO:0001001|EFO:0003645|ZFA:0001194|EHDAA2:0004420|TAO:0001194|EMAPA:16091|AAO:0010580 hp.json head crest|head neural crest|crista neuralis cranialis|head NCC population|crista neuralis cranialis|CNC|cranial NCC population|cephalic neural crest http://purl.obolibrary.org/obo/UBERON_0003099 uberon_slim|vertebrate_core|efo_slim HP:0003146 biolink:PhenotypicFeature Hypocholesterolemia An decreased concentration of cholesterol in the blood. UMLS:C0151718|SNOMEDCT_US:61336008 hp.json Decreased circulating cholesterol level http://purl.obolibrary.org/obo/HP_0003146 HP:0003145 biolink:PhenotypicFeature Decreased adenosylcobalamin Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. UMLS:C1848556 hp.json Decreased ADOCBL http://purl.obolibrary.org/obo/HP_0003145 HP:0003149 biolink:PhenotypicFeature Hyperuricosuria An abnormally high level of uric acid in the urine. UMLS:C0948643 hp.json Increased urinary urate|High urine uric acid level http://purl.obolibrary.org/obo/HP_0003149 HP:0003140 biolink:PhenotypicFeature T-wave inversion in the right precordial leads UMLS:C4025646 hp.json http://purl.obolibrary.org/obo/HP_0003140 HP:0003144 biolink:PhenotypicFeature Increased serum serotonin A increased concentration of serotonin in the blood. UMLS:C0877243 hp.json Increased serum serotonin http://purl.obolibrary.org/obo/HP_0003144 HP:0003142 biolink:PhenotypicFeature Excessive purine production UMLS:C4025645 hp.json http://purl.obolibrary.org/obo/HP_0003142 HP:0003141 biolink:PhenotypicFeature Increased LDL cholesterol concentration An elevated concentration of low-density lipoprotein cholesterol in the blood. SNOMEDCT_US:398036000|SNOMEDCT_US:190773008|MSH:D006938|UMLS:C0549399|UMLS:C0020445 hp.json Hyperbetalipoproteinemia|Increased beta-lipoproteins|Increased circulating low-density lipoprotein cholesterol|Increased circulating low-density lipoprotein levels|Increased circulating LDL level|Increased plasma LDL levels|Increased LDLc concentration|Increased LDL cholesterol http://purl.obolibrary.org/obo/HP_0003141 UBERON:0015064 biolink:AnatomicalEntity autopod cartilage An autopod endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015064 UBERON:0015067 biolink:AnatomicalEntity centrale endochondral element Endochondral element located between the proximal and distal rows of carpals or tarsals and thus representing the central carpals or tarsals[PHENOSCAPE]. hp.json central mesopodium element|centralia http://purl.obolibrary.org/obo/UBERON_0015067 UBERON:0015061 biolink:AnatomicalEntity limb endochondral element A limb bone or its cartilage or pre-cartilage precursor. hp.json limb bone skeletal element|limb bone endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 UBERON:0015060 biolink:AnatomicalEntity sphenoid endochondral element A sphenoid bone or its cartilage or pre-cartilage precursor. hp.json sphenoid element|sphenoid bone skeletal element http://purl.obolibrary.org/obo/UBERON_0015060 UBERON:0015063 biolink:AnatomicalEntity autopod endochondral element An endochondral element that is part of a autopod region. hp.json http://purl.obolibrary.org/obo/UBERON_0015063 UBERON:0003080 biolink:AnatomicalEntity anterior neural tube VHOG:0001384|ZFA:0007038|XAO:0000307|TAO:0007038|AAO:0011012 hp.json http://purl.obolibrary.org/obo/UBERON_0003080 UBERON:0015069 biolink:AnatomicalEntity distal carpal cartilage element A distal carpal endochondral element that is composed primarily of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0015069 UBERON:0015068 biolink:AnatomicalEntity distal carpal endochondral element A distal mesopodial endochondral element that is part of a forelimb. hp.json distal carpal|distal carpal http://purl.obolibrary.org/obo/UBERON_0015068 HP:0003159 biolink:PhenotypicFeature Hyperoxaluria Increased excretion of oxalates in the urine. SNOMEDCT_US:367621000119107|MSH:D006959|UMLS:C0020500 hp.json High urine oxalate levels|Increased level of oxalate in urine http://purl.obolibrary.org/obo/HP_0003159 HP:0003158 biolink:PhenotypicFeature Hyposthenuria An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. SNOMEDCT_US:76023003|UMLS:C0232831 hp.json Reduced urinary osmolality http://purl.obolibrary.org/obo/HP_0003158 UBERON:0003086 biolink:AnatomicalEntity caudal artery Extension of the dorsal aorta in the tail. EFO:0003472|XAO:0000364|ZFA:0000011|TAO:0000011|AAO:0011023|VHOG:0000123 hp.json CA http://purl.obolibrary.org/obo/UBERON_0003086 uberon_slim|efo_slim UBERON:0003083 biolink:AnatomicalEntity trunk neural crest Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]. EHDAA2:0001901|VHOG:0000062|EFO:0003605|ZFA:0001024|TAO:0001024|XAO:0000319|AAO:0010582|Wikipedia:Trunk_neural_crest hp.json TNC|trunk crest http://purl.obolibrary.org/obo/UBERON_0003083 efo_slim|uberon_slim UBERON:0003084 biolink:AnatomicalEntity heart primordium Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. TAO:0000028|UMLS:C1514450|BTO:0001887|NCIT:C34276|AAO:0011044|XAO:0000336|ZFA:0000028 hp.json cardiac field|fused heart primordium http://purl.obolibrary.org/obo/UBERON_0003084 uberon_slim UBERON:0003081 biolink:AnatomicalEntity lateral plate mesoderm Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. UMLS:C1517749|XAO:0000311|EMAPA:16179|EHDAA:379|ZFA:0000121|FMA:293149|AAO:0010574|VHOG:0000118|EHDAA2:0000919|TAO:0000121|NCIT:C34199|SCTID:361477005|Wikipedia:Lateral_plate_mesoderm hp.json lateral plate mesenchyme|mesoderma laminae lateralis|LPM|lateral mesoderm|lateral plate|mesoderma laminae lateralis http://purl.obolibrary.org/obo/UBERON_0003081 pheno_slim|uberon_slim UBERON:0003082 biolink:AnatomicalEntity myotome A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. EHDAA:1733|EHDAA:1721|FMA:295658|UMLS:C1513802|ZFA:0001056|NCIT:C34214|TAO:0001056|BTO:0000742|AEO:0001018|AAO:0011067|EMAPA:32841|EHDAA:1739|EHDAA:1727|Wikipedia:Myotome|XAO:0000315|SCTID:344535001|VHOG:0001244|EHDAA2_RETIRED:0003431 hp.json myomeres|myomere|myotomus|myotome region|myotomes|myotomus|muscle plate http://purl.obolibrary.org/obo/UBERON_0003082 vertebrate_core|pheno_slim|uberon_slim HP:0030709 biolink:PhenotypicFeature Myelocystocele Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. MSH:D008591|SNOMEDCT_US:203994003|SNOMEDCT_US:414667000|UMLS:C0025312 hp.json http://purl.obolibrary.org/obo/HP_0030709 HP:0003150 biolink:PhenotypicFeature Glutaric aciduria An increased concentration of glutaric acid in the urine. UMLS:C0268594|SNOMEDCT_US:28987007 hp.json Glutaricaciduria|Glutarate aciduria|Increased glutarate level in urine http://purl.obolibrary.org/obo/HP_0003150 HP:0003155 biolink:PhenotypicFeature Elevated circulating alkaline phosphatase concentration Abnormally increased serum levels of alkaline phosphatase activity. UMLS:C0750857 hp.json Hyperphosphatasia|Elevated ALP|Greatly elevated alkaline phosphatase|Increased alkaline phosphatase|Hyperphosphatasemia|Increased serum alkaline phosphatase|High serum alkaline phosphatase|Elevated alkaline phosphatase http://purl.obolibrary.org/obo/HP_0003155 HP:0003154 biolink:PhenotypicFeature Increased circulating ACTH level An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. UMLS:C4021740 hp.json Increased plasma ACTH|High blood corticotropin levels|Increased circulating ACTH level http://purl.obolibrary.org/obo/HP_0003154 HP:0030706 biolink:PhenotypicFeature Ranula A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location. SNOMEDCT_US:14919007|MSH:D011900|UMLS:C2242813 hp.json Sublingual ptyalocele|Sublingual cyst http://purl.obolibrary.org/obo/HP_0030706 UBERON:0003089 biolink:AnatomicalEntity sclerotome Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. ZFA:0001080|UMLS:C0183176|TAO:0001080|EHDAA2:0003439|VHOG:0000680|XAO:0000397|Wikipedia:Sclerotome|NCIT:C34287|EMAPA:31159|AAO:0010571|FMA:295652|AEO:0000212 hp.json sclerotomus|sclerotomus|sclerotomes http://purl.obolibrary.org/obo/UBERON_0003089 uberon_slim|vertebrate_core|pheno_slim HP:0003153 biolink:PhenotypicFeature Cystathioninuria An elevated urinary concentration of cystathionine. SNOMEDCT_US:13003007|UMLS:C0220993 hp.json High urine cystathionine levels http://purl.obolibrary.org/obo/HP_0003153 HP:0030707 biolink:PhenotypicFeature Unilateral lung agenesis Lack of development of one lung. MSH:C562992|UMLS:C4082952 hp.json Unilateral pulmonary agenesis http://purl.obolibrary.org/obo/HP_0030707 HP:0030708 biolink:PhenotypicFeature Myeloschisis The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane. UMLS:C0266507|SNOMEDCT_US:360530005 hp.json http://purl.obolibrary.org/obo/HP_0030708 HP:0003152 biolink:PhenotypicFeature obsolete Increased serum 1,25-dihydroxyvitamin D3 hp.json http://purl.obolibrary.org/obo/HP_0003152 UBERON:0015054 biolink:AnatomicalEntity iliac endochondral element An iliac bone or its cartilage or pre-cartilage precursor. hp.json iliac element|iliac skeletal element http://purl.obolibrary.org/obo/UBERON_0015054 UBERON:0015053 biolink:AnatomicalEntity humerus endochondral element A humerus bone or its cartilage or pre-cartilage precursor. hp.json humerus element|humerus skeletal element http://purl.obolibrary.org/obo/UBERON_0015053 OBO:chebi#has_parent_hydride biolink:NamedThing has parent hydride hp.json http://purl.obolibrary.org/obo/chebi#has_parent_hydride UBERON:0015056 biolink:AnatomicalEntity ischial endochondral element An ischial bone or its cartilage or pre-cartilage precursor. hp.json ischial skeletal element|ischial element http://purl.obolibrary.org/obo/UBERON_0015056 UBERON:0015055 biolink:AnatomicalEntity pubic endochondral element A pubic bone or its cartilage or pre-cartilage precursor. hp.json pubic skeletal element|pubic element http://purl.obolibrary.org/obo/UBERON_0015055 UBERON:0015050 biolink:AnatomicalEntity tarsus endochondral element A tarsus bone or its cartilage or pre-cartilage precursor. hp.json tarsus element|tarsus skeletal element http://purl.obolibrary.org/obo/UBERON_0015050 UBERON:0015052 biolink:AnatomicalEntity femur endochondral element A femur bone or its cartilage or pre-cartilage precursor. hp.json femur element|femur skeletal element http://purl.obolibrary.org/obo/UBERON_0015052 UBERON:0015057 biolink:AnatomicalEntity scapula endochondral element A scapula bone or its cartilage or pre-cartilage precursor. hp.json scapula element|scapula skeletal element http://purl.obolibrary.org/obo/UBERON_0015057 UBERON:0015059 biolink:AnatomicalEntity orbitosphenoid endochondral element An orbitosphenoid bone or its cartilage or pre-cartilage precursor. hp.json orbitosphenoid element|orbitosphenoid skeletal element http://purl.obolibrary.org/obo/UBERON_0015059 HP:0003126 biolink:PhenotypicFeature Low-molecular-weight proteinuria Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). UMLS:C1839606 hp.json Tubular proteinuria http://purl.obolibrary.org/obo/HP_0003126 HP:0030712 biolink:PhenotypicFeature Uterine synechiae Adhesions or scar tissue that form inside the cavity of the uterus. SNOMEDCT_US:48236007|MSH:D006175|UMLS:C0156372 hp.json Asherman syndrome http://purl.obolibrary.org/obo/HP_0030712 UBERON:0003076 biolink:AnatomicalEntity posterior neural tube AAO:0011082|VHOG:0001383|XAO:0000250|ZFA:0007037|TAO:0007037 hp.json http://purl.obolibrary.org/obo/UBERON_0003076 HP:0005789 biolink:PhenotypicFeature Generalized osteosclerosis An abnormal increase of bone mineral density with generalized involvement of the skeleton. UMLS:C4280476|UMLS:C1843331 hp.json Generalised osteosclerosis|Increased bone density in skeletal bones|Osteosclerosis, diffuse symmetrical|Diffuse, symmetrical osteosclerosis http://purl.obolibrary.org/obo/HP_0005789 UBERON:0003077 biolink:AnatomicalEntity paraxial mesoderm The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]. VHOG:0000114|SCTID:361475002|XAO:0000259|Wikipedia:Paraxial_mesoderm|EMAPA:16751|AAO:0010568|ZFA:0000255|TAO:0000255|EFO:0003515|NCIT:C34244|EMAPA:16183|UMLS:C1284009|FMA:293145 hp.json paraxial mesenchyme|mesoderma paraxiale|mesoderma paraxiale|somitic mesoderm|paraxial mesenchyme http://purl.obolibrary.org/obo/UBERON_0003077 uberon_slim|vertebrate_core|efo_slim HP:0003125 biolink:PhenotypicFeature Reduced factor VIII activity Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. UMLS:C3494187|MSH:D006467|UMLS:C4025649|SNOMEDCT_US:234440005 hp.json Factor VIII deficiency http://purl.obolibrary.org/obo/HP_0003125 HP:0030713 biolink:PhenotypicFeature Vein of Galen aneurysmal malformation Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. MSH:C536535|UMLS:C0431420|SNOMEDCT_US:253194008 hp.json Median prosencephalic arteriovenous fistula|Vein of Galen malformation|Vein of Galen aneurysm http://purl.obolibrary.org/obo/HP_0030713 UBERON:0003074 biolink:AnatomicalEntity mesonephric duct Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA]. ZFA:0000546|EMAPA:16577|TAO:0000546|AAO:0000637|XAO:0000242|GAID:1315|NCIT:C26469|VHOG:0000082|EHDAA2:0001243|EHDAA:1590|MESH:D014928|UMLS:C0043204 hp.json ductus mesonephricus; ductus Wolffi|Leydig's duct|Wolffian duct|renal duct|archinephric duct http://purl.obolibrary.org/obo/UBERON_0003074 uberon_slim|vertebrate_core|pheno_slim HP:0003124 biolink:PhenotypicFeature Hypercholesterolemia An increased concentration of cholesterol in the blood. SNOMEDCT_US:166830008|UMLS:C0020443|SNOMEDCT_US:13644009|UMLS:C0595929|MSH:D006937 hp.json High cholesterol|Increased total cholesterol|Elevated serum cholesterol|Elevated total cholesterol http://purl.obolibrary.org/obo/HP_0003124 HP:0030714 biolink:PhenotypicFeature Subchorionic thrombohematoma A large maternal clot that separates the chorionic plate from the villous chorion. UMLS:C1390676 hp.json Breus' mole http://purl.obolibrary.org/obo/HP_0030714 UBERON:0003075 biolink:AnatomicalEntity neural plate A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]. XAO:0000249|VHOG:0000068|EHDAA:902|AAO:0011072|UMLS:C0920623|FMA:293879|DMBA:15565|EMAPA:35593|MESH:D054258|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1362|EHDAA:346|RETIRED_EHDAA2:0001252|ZFA:0000132|NCIT:C34225|DHBA:10153|Wikipedia:Neural_plate|BTO:0001765|TAO:0000132 hp.json lamina neuralis|presumptive central nervous system|lamina neuralis http://purl.obolibrary.org/obo/UBERON_0003075 uberon_slim|vertebrate_core|pheno_slim HP:0030715 biolink:PhenotypicFeature Bronchial atresia A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. UMLS:C0265776|SNOMEDCT_US:50513008 hp.json Congenital bronchial atresia http://purl.obolibrary.org/obo/HP_0030715 UBERON:0003072 biolink:AnatomicalEntity optic cup Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. EHDAA:2912|SCTID:308789007|ZFA:0001202|EMAPA:16674|BTO:0005351|EHDAA2:0001303|TAO:0001202|UMLS:C0231109|NCIT:C34233|VHOG:0000167 hp.json ophtalmic cup|eyecup|eye cup|ocular cup http://purl.obolibrary.org/obo/UBERON_0003072 vertebrate_core|pheno_slim UBERON:0003073 biolink:AnatomicalEntity lens placode A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. UMLS:C1517770|VHOG:0000166|EFO:0003494|ZFA:0000122|EMAPA:16672|NCIT:C34202|EHDAA2:0000982|XAO:0000240|FMA:296767|TAO:0000122|EHDAA:2908|AAO:0011055|Wikipedia:Lens_placode hp.json lens placodes|placoda lentis|placoda lentis http://purl.obolibrary.org/obo/UBERON_0003073 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0003070 biolink:AnatomicalEntity trigeminal placode complex A neurogenic placode that arises at the level of the midbrain-hindbrain boundary and develops into a trigeminal ganglion. EHDAA2:0004209|VHOG:0000109|ZFA:0000162|TAO:0000162|EFO:0003433|XAO:0000225 hp.json trigeminal placode|profundus V placode|trigeminal placodes|trigeminal V placode|profundus placode http://purl.obolibrary.org/obo/UBERON_0003070 efo_slim HP:0005787 biolink:PhenotypicFeature Lumbar platyspondyly A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine. UMLS:C4025136 hp.json http://purl.obolibrary.org/obo/HP_0005787 HP:0003128 biolink:PhenotypicFeature Lactic acidosis An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. UMLS:C0347959|UMLS:C0001125|MSH:D000140|SNOMEDCT_US:190882007|SNOMEDCT_US:91273001 hp.json Lactic acidemia|Lacticacidemia|Lacticacidosis|Hyperlacticacidemia|Increased lactate in body http://purl.obolibrary.org/obo/HP_0003128 HP:0030710 biolink:PhenotypicFeature Lipomeningocele A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life. UMLS:C0431344|SNOMEDCT_US:253120005 hp.json http://purl.obolibrary.org/obo/HP_0030710 HP:0003127 biolink:PhenotypicFeature Hypocalciuria An abnormally decreased calcium concentration in the urine. UMLS:C0020599|SNOMEDCT_US:86353007 hp.json Low urine calcium levels http://purl.obolibrary.org/obo/HP_0003127 UBERON:0003071 biolink:AnatomicalEntity eye primordium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. XAO:0004090|AAO:0011038|ZFA:0000570|TAO:0000570|EHDAA2:0004431|EFO:0003541|XAO:0000227 hp.json optic field|optic placode of camera-type eye|occular primordium|optic placode of camera-type eye|ocular primordium|optic primordium|eye anlage|optic placode|eye field|optic placodes|eye placode http://purl.obolibrary.org/obo/UBERON_0003071 efo_slim HP:0005788 biolink:PhenotypicFeature Abnormal cervical myelogram UMLS:C4025135 hp.json http://purl.obolibrary.org/obo/HP_0005788 HP:0030711 biolink:PhenotypicFeature Hydrocolpos Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. UMLS:C1399870|MSH:D052202 hp.json http://purl.obolibrary.org/obo/HP_0030711 HP:0005781 biolink:PhenotypicFeature Contractures of the large joints UMLS:C1859698 hp.json http://purl.obolibrary.org/obo/HP_0005781 HP:0030716 biolink:PhenotypicFeature Acrania Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. MSH:D009436|SNOMEDCT_US:203923004|UMLS:C0702169 hp.json http://purl.obolibrary.org/obo/HP_0030716 HP:0030717 biolink:PhenotypicFeature Meconium peritonitis Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications. UMLS:C0270250|SNOMEDCT_US:57341009 hp.json http://purl.obolibrary.org/obo/HP_0030717 HP:0003121 biolink:PhenotypicFeature Limb joint contracture A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. UMLS:C1969879 hp.json Limb contractures http://purl.obolibrary.org/obo/HP_0003121 UBERON:0003078 biolink:AnatomicalEntity epibranchial placode Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. TAO:0001294|FMA:293968|XAO:0000284|AAO:0011036|VHOG:0000117|ZFA:0001294|EFO:0003455 hp.json epibranchial placodes|ventrolateral placode http://purl.obolibrary.org/obo/UBERON_0003078 efo_slim HP:0030718 biolink:PhenotypicFeature Right atrial enlargement Increase in size of the right atrium. Fyler:2859|UMLS:C0748427|Fyler:1771|SNOMEDCT_US:67751000119106 hp.json Right atrial dilatation|Enlarged heart right atrium|Dilated right atrium http://purl.obolibrary.org/obo/HP_0030718 HP:0005780 biolink:PhenotypicFeature Absent fourth finger distal interphalangeal crease Absence of the distal interphalangeal flexion creases of the fourth finger. UMLS:C4021621 hp.json No fourth finger distal interphalangeal crease http://purl.obolibrary.org/obo/HP_0005780 HP:0030719 biolink:PhenotypicFeature Unguarded tricuspid valve A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue. SNOMEDCT_US:253381001|UMLS:C0344745 hp.json Rudimentary tricuspid valve leaflets|Unguarded tricuspid valve orifice http://purl.obolibrary.org/obo/HP_0030719 UBERON:0015043 biolink:AnatomicalEntity manual digit 1 metacarpus endochondral element A manual digit 1 metacarpus bone or its cartilage or pre-cartilage precursor. hp.json manual digit 1 metacarpus element|manual digit 1 metacarpus skeletal element|manual digit I metacarpus endochondral element http://purl.obolibrary.org/obo/UBERON_0015043 UBERON:0015042 biolink:AnatomicalEntity manual digit metacarpus endochondral element A manual digit metacarpus bone or its cartilage or pre-cartilage precursor. hp.json manual digit metacarpus element|manual digit metacarpus skeletal element http://purl.obolibrary.org/obo/UBERON_0015042 UBERON:0015045 biolink:AnatomicalEntity manual digit 3 metacarpus endochondral element A manual digit 3 metacarpus bone or its cartilage or pre-cartilage precursor. hp.json manual digit III metacarpus endochondral element|manual digit 3 metacarpus element|manual digit 3 metacarpus skeletal element http://purl.obolibrary.org/obo/UBERON_0015045 UBERON:0015044 biolink:AnatomicalEntity manual digit 2 metacarpus endochondral element A manual digit 2 metacarpus bone or its cartilage or pre-cartilage precursor. hp.json manual digit 2 metacarpus element|manual digit 2 metacarpus skeletal element|manual digit II metacarpus endochondral element http://purl.obolibrary.org/obo/UBERON_0015044 UBERON:0015041 biolink:AnatomicalEntity pedal digit 5 metatarsal endochondral element A pedal digit 5 metatarsal bone or its cartilage or pre-cartilage precursor. hp.json pedal digit 5 metatarsal skeletal element|pedal digit V metatarsal endochondral element|pedal digit 5 metatarsal element http://purl.obolibrary.org/obo/UBERON_0015041 UBERON:0015040 biolink:AnatomicalEntity pedal digit 4 metatarsal endochondral element A pedal digit 4 metatarsal bone or its cartilage or pre-cartilage precursor. hp.json pedal digit IV metatarsal endochondral element|pedal digit 4 metatarsal skeletal element|pedal digit 4 metatarsal element http://purl.obolibrary.org/obo/UBERON_0015040 UBERON:0015047 biolink:AnatomicalEntity manual digit 5 metacarpus endochondral element A manual digit 5 metacarpus bone or its cartilage or pre-cartilage precursor. hp.json manual digit V metacarpus endochondral element|manual digit 5 metacarpus skeletal element|manual digit 5 metacarpus element http://purl.obolibrary.org/obo/UBERON_0015047 UBERON:0015046 biolink:AnatomicalEntity manual digit 4 metacarpus endochondral element A manual digit 4 metacarpus bone or its cartilage or pre-cartilage precursor. hp.json manual digit IV metacarpus endochondral element|manual digit 4 metacarpus element|manual digit 4 metacarpus skeletal element http://purl.obolibrary.org/obo/UBERON_0015046 UBERON:0015049 biolink:AnatomicalEntity carpus endochondral element A carpus bone or its cartilage or pre-cartilage precursor. hp.json carpus skeletal element|carpus element http://purl.obolibrary.org/obo/UBERON_0015049 HP:0030723 biolink:PhenotypicFeature Congenital megalourethra Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. UMLS:C4280800 hp.json http://purl.obolibrary.org/obo/HP_0030723 HP:0003137 biolink:PhenotypicFeature Prolinuria An increased concentration of proline in the urine. UMLS:C0268534|SNOMEDCT_US:53124003 hp.json http://purl.obolibrary.org/obo/HP_0003137 HP:0030724 biolink:PhenotypicFeature Central nervous system cyst A fluid-filled sac (cyst) located within the central nervous system. UMLS:C0349606|MSH:D020863|SNOMEDCT_US:277333006 hp.json CNS cyst|Cyst of the central nervous system http://purl.obolibrary.org/obo/HP_0030724 UBERON:0003066 biolink:AnatomicalEntity pharyngeal arch 2 The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. EHDAA2:0000050|ZFA:0001611|VHOG:0000297|EHDAA:611|XAO:0000098|SCTID:308768003|FMA:293017|TAO:0001596|EMAPA:16272|NCIT:C34288|AAO:0010363|Wikipedia:Second_pharyngeal_arch hp.json branchial arch 2|arcus pharyngeus secundus|hyoid arch|second pharyngeal arch|hyoid bars|arcus pharyngeus secundus|pharyngeal arch 2|2nd visceral arch|second branchial arch|second visceral arch|visceral arch 2|pharyngeal arches 2|2nd arch|2nd pharyngeal arch http://purl.obolibrary.org/obo/UBERON_0003066 uberon_slim|vertebrate_core|pheno_slim UBERON:0003063 biolink:AnatomicalEntity prechordal plate A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue. EHDAA2:0001493|AAO:0011085|TAO:0000060|EHDAA:181|XAO:0000079|VHOG:0000086|Wikipedia:Prechordal_plate|FMA:295532|ZFA:0000060 hp.json head mesenchyme|head mesoderm http://purl.obolibrary.org/obo/UBERON_0003063 uberon_slim|vertebrate_core|pheno_slim HP:0030725 biolink:PhenotypicFeature Neurenteric cyst The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium. SNOMEDCT_US:253127008|MSH:D009436|SNOMEDCT_US:41353005|UMLS:C0027806 hp.json http://purl.obolibrary.org/obo/HP_0030725 UBERON:0003064 biolink:AnatomicalEntity intermediate mesoderm The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. Wikipedia:Intermediate_mesoderm|ZFA:0001206|NCIT:C34193|SCTID:361476001|VHOG:0000087|TAO:0001206|EMAPA:16178|EMAPA:16056|XAO:0000085|AAO:0010575|UMLS:C1284010|FMA:293147 hp.json intermediate mesenchyme|intermediate plate mesoderm|mesenchyma intermedium|intermediate mesenchyme|intermediate plate|IM|intermediate plate mesoderm|mesenchyma intermedium http://purl.obolibrary.org/obo/UBERON_0003064 uberon_slim|vertebrate_core|pheno_slim HP:0030726 biolink:PhenotypicFeature Spinal neurenteric cyst A neurenteric cyst located in the spine. UMLS:C4280799 hp.json http://purl.obolibrary.org/obo/HP_0030726 HP:0003134 biolink:PhenotypicFeature Abnormality of peripheral nerve conduction An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). UMLS:C4020690 hp.json Sensory and motor nerve conduction abnormalities|Abnormal peripheral nerve transmission http://purl.obolibrary.org/obo/HP_0003134 UBERON:0003061 biolink:AnatomicalEntity blood island Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. TAO:0000094|EHDAA:207|VHOG:0000085|XAO:0000067|AAO:0011006|UMLS:C1511224|NCIT:C34113|EFO:0003489|ZFA:0000094|TE:E5.11.2.0.0.0.4|Wikipedia:Blood_island_of_umbilical_vesicle hp.json caudal hematopoietic tissue|ventral lateral plate mesoderm|blood islands|ventral blood island|posterior ICM|VBI|posterior blood island http://purl.obolibrary.org/obo/UBERON_0003061 uberon_slim|vertebrate_core|pheno_slim|efo_slim HP:0030720 biolink:PhenotypicFeature Subchorionic septal cyst Cyst on the surface of the placenta consisting of amnion and chorion. UMLS:C4280801 hp.json http://purl.obolibrary.org/obo/HP_0030720 HP:0003139 biolink:PhenotypicFeature Panhypogammaglobulinemia A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. UMLS:C1328587 hp.json Panypogammaglobulinemia|Panhypogammaglobulinaemia http://purl.obolibrary.org/obo/HP_0003139 HP:0030721 biolink:PhenotypicFeature Tetraphocomelia Phocomelia involving all four extremities. UMLS:C1849370 hp.json http://purl.obolibrary.org/obo/HP_0030721 HP:0005798 biolink:PhenotypicFeature Posterior radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction. MSH:C566728|UMLS:C1867398 hp.json http://purl.obolibrary.org/obo/HP_0005798 UBERON:0003060 biolink:AnatomicalEntity pronephric duct In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. NCIT:C34279|VHOG:0000082|UMLS:C1283945|XAO:0000063|ZFA:0000150|AAO:0011088|TAO:0000150 hp.json pronephric ducts|ductus pronephricus|archinephric duct http://purl.obolibrary.org/obo/UBERON_0003060 uberon_slim HP:0030722 biolink:PhenotypicFeature Ectopic liver Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. SNOMEDCT_US:253813000|UMLS:C0431603 hp.json http://purl.obolibrary.org/obo/HP_0030722 HP:0003138 biolink:PhenotypicFeature Increased blood urea nitrogen An increased amount of nitrogen in the form of urea in the blood. UMLS:C0151539 hp.json Increased BUN|Increased blood urea nitrogen http://purl.obolibrary.org/obo/HP_0003138 HP:0005792 biolink:PhenotypicFeature Short humerus Underdevelopment of the humerus. UMLS:C1832117 hp.json Hypoplastic humerus|Short long bone of upper arm|Humeral shortening|Short humeri|Short upper arms|Humeral hypoplasia|Short humerus http://purl.obolibrary.org/obo/HP_0005792 hposlim_core HP:0005793 biolink:PhenotypicFeature Shortening of all distal phalanges of the toes Abnormally short distal phalanx of toe of all toes. UMLS:C4025132 hp.json Shortening of all outermost bone of the toes http://purl.obolibrary.org/obo/HP_0005793 HP:0005794 biolink:PhenotypicFeature obsolete Arterial disease of legs hp.json http://purl.obolibrary.org/obo/HP_0005794 UBERON:0003069 biolink:AnatomicalEntity otic placode A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]. UMLS:C1518677|VHOG:0000235|EHDAA:506|ZFA:0000138|EHDAA2:0001339|XAO:0000223|TAO:0000138|NCIT:C34239|EFO:0003429|FMA:293973|EMAPA:16195|AAO:0011079 hp.json auditory placode|octaval VIII placode|ear/otic placode|placoda otica|ear placode|octaval placode http://purl.obolibrary.org/obo/UBERON_0003069 efo_slim|uberon_slim|vertebrate_core|pheno_slim HP:0030727 biolink:PhenotypicFeature Intracranial neurenteric cyst A neurenteric cyst located within the skull. UMLS:C4280680 hp.json http://purl.obolibrary.org/obo/HP_0030727 HP:0003133 biolink:PhenotypicFeature Abnormality of the spinocerebellar tracts An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. UMLS:C4025647 hp.json http://purl.obolibrary.org/obo/HP_0003133 HP:0030728 biolink:PhenotypicFeature Meromelia Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. UMLS:C0265549|SNOMEDCT_US:60220000 hp.json http://purl.obolibrary.org/obo/HP_0030728 HP:0005790 biolink:PhenotypicFeature Short mandibular condyles UMLS:C4280475|UMLS:C4280474|UMLS:C4025134 hp.json Short condylar head of mandible|Short condylar neck of mandible|Short condylar process of mandible|Bilateral hypoplasia of condylar process of mandible|Bilateral hypoplasia of mandibular condylar head|Bilateral hypoplasia of mandibular condylar neck|Decreased height of condylar process of mandible|Decreased length of condylar process of mandible http://purl.obolibrary.org/obo/HP_0005790 HP:0030729 biolink:PhenotypicFeature Frontoethmoidal meningocele A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones. UMLS:C4280798 hp.json Frontoethmoid meningocele http://purl.obolibrary.org/obo/HP_0030729 UBERON:0003067 biolink:AnatomicalEntity dorsolateral placode Lateral neurogenic placodes positioned dorsal of the epibranchial placodes. VHOG:0000103|ZFA:0001310|XAO:0000187|TAO:0001310 hp.json dorsolateral placodes http://purl.obolibrary.org/obo/UBERON_0003067 HP:0003131 biolink:PhenotypicFeature Cystinuria An increased concentration of cystine in the urine. UMLS:C0010691|SNOMEDCT_US:85020001|MSH:D003555 hp.json High urine cystine levels http://purl.obolibrary.org/obo/HP_0003131 UBERON:0003068 biolink:AnatomicalEntity axial mesoderm The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. XAO:0000205|ZFA:0001204|TAO:0001204|AAO:0011017|EFO:0003647|VHOG:0000107|Wikipedia:Chordamesoderm hp.json chordamesoderm|chordamesoderm http://purl.obolibrary.org/obo/UBERON_0003068 efo_slim|uberon_slim HP:0003130 biolink:PhenotypicFeature Abnormal peripheral myelination An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. UMLS:C4025648 hp.json http://purl.obolibrary.org/obo/HP_0003130 HP:0005791 biolink:PhenotypicFeature Cortical thickening of long bone diaphyses Abnormal thickening of the cortex of the diaphyseal region of long bones. UMLS:C4025133 hp.json http://purl.obolibrary.org/obo/HP_0005791 UBERON:0005629 biolink:AnatomicalEntity vascular plexus A vascular network formed by frequent anastomoses between the blood vessels (arteries or veins) of a part. EHDAA2:0004112|FMA:5900|AEO:0000219|EMAPA:35904|XAO:0004143 hp.json plexus vasculosus http://purl.obolibrary.org/obo/UBERON_0005629 UBERON:0017615 biolink:AnatomicalEntity vomerine dentition A set of teeth in which each tooth that attaches to a vomer. AAO:0000635 hp.json vomerine teeth http://purl.obolibrary.org/obo/UBERON_0017615 UBERON:0005637 biolink:AnatomicalEntity pyloric region epithelium An epithelium that is part of a pylorus. EHDAA2:0001582|EMAPA:17633|RETIRED_EHDAA2:0001927 hp.json http://purl.obolibrary.org/obo/UBERON_0005637 UBERON:0005631 biolink:AnatomicalEntity extraembryonic membrane Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. EHDAA2:0004714|SCTID:362840007|FMA:305915|MESH:D005321 hp.json http://purl.obolibrary.org/obo/UBERON_0005631 CHEBI:46662 biolink:ChemicalSubstance mineral hp.json http://purl.obolibrary.org/obo/CHEBI_46662 UBERON:0005619 biolink:AnatomicalEntity secondary palatal shelf The outgrowths of the embryonic maxillary prominences that come together during prenatal development to form the secondary palate. EMAPA:17362|EHDAA2:0001364|MA:0001581|VHOG:0000378|FMA:295948|EHDAA:9283 hp.json secondary palatal shelf|palatine shelf|palatal shelves|lateral palatine process|palatal shelf http://purl.obolibrary.org/obo/UBERON_0005619 pheno_slim UBERON:0005617 biolink:AnatomicalEntity mesenteric vein A vein that returns blood from the intestines. EHDAA:4442|MESH:D008642|SCTID:304045008|BTO:0002781|EMAPA:17348|RETIRED_EHDAA2:0001125|UMLS:C0025473|NCIT:C53055|Wikipedia:Mesenteric_vein|MA:0002177 hp.json intestinal vein|intestinal vein http://purl.obolibrary.org/obo/UBERON_0005617 UBERON:0005616 biolink:AnatomicalEntity mesenteric artery Arteries which arise from the abdominal aorta and distribute to most of the intestines. XAO:0000370|EHDAA2:0001123|EHDAA:4343|SCTID:281084003|VHOG:0001117|NCIT:C52975|EMAPA:17312|Wikipedia:Mesenteric_artery|BTO:0000779|UMLS:C0025465|MA:0002003|MESH:D008638 hp.json http://purl.obolibrary.org/obo/UBERON_0005616 UBERON:0005626 biolink:AnatomicalEntity ventral mesogastrium Portion of ventral mesentery closest to the stomach. EHDAA2:0002176|TAO:0005133|VHOG:0000351|EMAPA:17026|MA:0001621|NCIT:C34327|UMLS:C1519967|EHDAA:3005|ZFA:0005133 hp.json foregut ventral mesentery http://purl.obolibrary.org/obo/UBERON_0005626 vertebrate_core UBERON:0005625 biolink:AnatomicalEntity tubotympanic recess lumen The cavity formed by the tubotympanic recess epithelium. EHDAA2:0002095|FMA:312393 hp.json tubotympanic recess|tubotympanic recess space|tubotympanic recess cavity|cavity of tubotympanic recess http://purl.obolibrary.org/obo/UBERON_0005625 UBERON:0005624 biolink:AnatomicalEntity suprarenal artery Artery that supplies blood to the adrenal glands. EMAPA:37124|MA:0001914|EHDAA:8596|EHDAA2:0001965|ncithesaurus:Adrenal_Artery|NCIT:C33708 hp.json adrenal artery http://purl.obolibrary.org/obo/UBERON_0005624 grouping_class UBERON:0005623 biolink:AnatomicalEntity semi-lunar valve The valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk. EHDAA:4408|EMAPA:35760|EHDAA2:0001823|VHOG:0001393|MA:0002790 hp.json semilunar valve|semilunar valves http://purl.obolibrary.org/obo/UBERON_0005623 pheno_slim UBERON:0005622 biolink:AnatomicalEntity right dorsal aorta EMAPA:16206|EHDAA:406|VHOG:0000485|MA:0000479|SCTID:361404004|EHDAA2:0001720 hp.json http://purl.obolibrary.org/obo/UBERON_0005622 UBERON:0005620 biolink:AnatomicalEntity primary palate The part of the palate formed from the intermaxillary segment. VHOG:0000362|UMLS:C1268540|EMAPA:17642|EHDAA2:0001499|MA:0001583|EHDAA2:0001496|FMA:295874|NCIT:C34264 hp.json primary palate|processus palatinus medianus|primitive palate|primary palate process|palatum primarium http://purl.obolibrary.org/obo/UBERON_0005620 vertebrate_core|pheno_slim UBERON:0005609 biolink:AnatomicalEntity iliac artery Any of the arteries that arise from a bifurcation of the aorta supplying the pelvic or abdomen. Examples: Common iliac artery, External iliac artery, Internal iliac artery. MESH:D007083|XAO:0000361|EHDAA:2551|EMAPA:17309|BTO:0004665|galen:IliacArtery|NCIT:C12733|UMLS:C0020887|MA:0001971|RETIRED_EHDAA2:0000807 hp.json http://purl.obolibrary.org/obo/UBERON_0005609 grouping_class GO:0006403 biolink:BiologicalProcess RNA localization A process in which RNA is transported to, or maintained in, a specific location. hp.json establishment and maintenance of RNA localization|RNA localisation http://purl.obolibrary.org/obo/GO_0006403 goslim_drosophila UBERON:0005606 biolink:AnatomicalEntity hyaloid cavity MA:0000272|FMA:312291|VHOG:0001477|EHDAA2:0000789|EMAPA:17302|EHDAA:4733 hp.json http://purl.obolibrary.org/obo/UBERON_0005606 UBERON:0005614 biolink:AnatomicalEntity lens anterior epithelium A layer of cuboidal epithelial cells bounded anteriorly by the capsule of the lens and posteriorly by the lens cortex. VHOG:0001425|RETIRED_EHDAA2:0000976|EHDAA:9059|EMAPA:17304|MA:0001302|FMA:70612|EHDAA2:0000984|NCIT:C33641|UMLS:C1182652|SCTID:362521008|EMAPA:17839 hp.json lens subcapsular epithelium|subcapsular lens epithelium|lens subcapsular epithelium|anterior surface of lens|lens epithelium|anterior epithelium of lens vesicle http://purl.obolibrary.org/obo/UBERON_0005614 UBERON:0005613 biolink:AnatomicalEntity left dorsal aorta EHDAA2:0000936|EMAPA:16205|SCTID:361403005|VHOG:0000484|EHDAA:404|MA:0000478 hp.json http://purl.obolibrary.org/obo/UBERON_0005613 UBERON:0005611 biolink:AnatomicalEntity inner canthus A corner of the medial (inner) part of an eye. EHDAA2:0000829|NCIT:C49564|FMA:59316|UMLS:C1708516|EMAPA:17830|VHOG:0000829|MA:0001262 hp.json medial palpebral commissure|inner canthi|medial canthus|medial canthus of eye|nasal canthus http://purl.obolibrary.org/obo/UBERON_0005611 UBERON:0005610 biolink:AnatomicalEntity iliac vein Any of the three veins including the common, external and internal iliac veins. UMLS:C0020888|EMAPA:37151|EHDAA2:0000811|NCIT:C12734|MESH:D007084|MA:0002142 hp.json pelvic vein http://purl.obolibrary.org/obo/UBERON_0005610 CHEBI:22695 biolink:ChemicalSubstance base A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). KEGG:C00701 hp.json Basen|Base2|Base1|base|Base|Nucleobase|base|bases http://purl.obolibrary.org/obo/CHEBI_22695 3_STAR GO:0006417 biolink:BiologicalProcess regulation of translation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. hp.json regulation of protein biosynthesis|regulation of protein anabolism|regulation of protein synthesis|regulation of protein formation http://purl.obolibrary.org/obo/GO_0006417 goslim_yeast GO:0006414 biolink:BiologicalProcess translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. hp.json translation elongation|protein synthesis elongation http://purl.obolibrary.org/obo/GO_0006414 goslim_yeast GO:0006415 biolink:BiologicalProcess translational termination The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). hp.json translation termination|protein synthesis termination|translational complex disassembly http://purl.obolibrary.org/obo/GO_0006415 GO:0006412 biolink:BiologicalProcess translation The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. Wikipedia:Translation_(genetics) hp.json protein anabolism|protein biosynthetic process|protein biosynthesis|protein synthesis|protein formation|protein translation http://purl.obolibrary.org/obo/GO_0006412 goslim_candida|goslim_plant|goslim_pir|goslim_drosophila|goslim_aspergillus|goslim_chembl|goslim_metagenomics GO:0006413 biolink:BiologicalProcess translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. hp.json translation initiation|biopolymerisation|protein synthesis initiation|biopolymerization http://purl.obolibrary.org/obo/GO_0006413 goslim_yeast UBERON:0005604 biolink:AnatomicalEntity extrahepatic part of hepatic duct VHOG:0000215|EMAPA:16844|MA:0001636 hp.json extrahepatic part of the hepatic duct|hepatic duct extrahepatic part http://purl.obolibrary.org/obo/UBERON_0005604 UBERON:0029636 biolink:AnatomicalEntity lumbar spinal cord gray matter BIRNLEX:1624 hp.json lumbar spinal cord gray matter|lumbar spinal cord gray matter http://purl.obolibrary.org/obo/UBERON_0029636 UBERON:0005602 biolink:AnatomicalEntity dorsal mesogastrium The portion of mesentery attached to the greater curvature of the stomach is named the dorsal mesentery (or dorsal mesogastrium, when referring to the portion at the stomach), and the part which suspends the colon is termed the mesocolon. The dorsal mesogastrium develops into the greater omentum. EHDAA:3001|MA:0001618|UMLS:C1512038|NCIT:C34142|EHDAA2:0000416|VHOG:0000352|EMAPA:17025 hp.json dorsal mesentery http://purl.obolibrary.org/obo/UBERON_0005602 UBERON:0017651 biolink:AnatomicalEntity salivary gland primordium A primordium that has the potential to develop into a saliva-secreting gland. hp.json http://purl.obolibrary.org/obo/UBERON_0017651 CHEBI:22660 biolink:ChemicalSubstance aspartic acid An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent CAS:617-45-8|Gmelin:185140|PMID:22264337|CAS:617-45-8|CAS:617-45-8|Beilstein:774618|KEGG:C16433|Reaxys:774618|Wikipedia:Aspartic_acid hp.json aspartic acid|Asp|(R,S)-Aspartic acid|Aspartic acid|DL-Asparagic acid|DL-Aminosuccinic acid|(+-)-Aspartic acid|D|2-aminobutanedioic acid http://purl.obolibrary.org/obo/CHEBI_22660 3_STAR UBERON:0017650 biolink:AnatomicalEntity developing mesenchymal structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. AEO:0001016 hp.json http://purl.obolibrary.org/obo/UBERON_0017650 UBERON:0017659 biolink:AnatomicalEntity ventral surface of penis FMA:19624 hp.json urethral surface of penis http://purl.obolibrary.org/obo/UBERON_0017659 pheno_slim UBERON:0017654 biolink:AnatomicalEntity buccal gland Any of the small racemose mucous glands in the mucous membrane lining the cheeks. BTO:0005767 hp.json cheek gland http://purl.obolibrary.org/obo/UBERON_0017654 UBERON:0005673 biolink:AnatomicalEntity left lung endothelium An endothelium that is part of a left lung. EHDAA2:0000961 hp.json http://purl.obolibrary.org/obo/UBERON_0005673 HP:0005723 biolink:PhenotypicFeature Shoe-shaped sella turcica UMLS:C4025147 hp.json http://purl.obolibrary.org/obo/HP_0005723 UBERON:0005672 biolink:AnatomicalEntity right lung endothelium An endothelium that is part of a right lung. EHDAA2:0001755 hp.json http://purl.obolibrary.org/obo/UBERON_0005672 HP:0005725 biolink:PhenotypicFeature Nonopposable triphalangeal thumb A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. MSH:C536562|UMLS:C2931238 hp.json http://purl.obolibrary.org/obo/HP_0005725 HP:0005726 biolink:PhenotypicFeature Thumbs hypoplastic with bulbous tips UMLS:C4025146 hp.json Short thumbs with bulbous tips http://purl.obolibrary.org/obo/HP_0005726 HP:0005720 biolink:PhenotypicFeature Shortening of all metacarpals Abnormal reduction in length of all metacarpal bones. UMLS:C4025149 hp.json http://purl.obolibrary.org/obo/HP_0005720 HP:0005722 biolink:PhenotypicFeature Hyperextensible thumb The ability of the thumb joints to move beyond their normal range of motion. UMLS:C4025148 hp.json Double jointed thumb http://purl.obolibrary.org/obo/HP_0005722 CHEBI:22676 biolink:ChemicalSubstance auxin Any of a group of compounds, both naturally occurring and synthetic, that induce cell elongation in plant stems (from Greek alphaupsilonxialphanuomega, "to grow"). Wikipedia:Auxin hp.json auxins http://purl.obolibrary.org/obo/CHEBI_22676 3_STAR UBERON:0017648 biolink:AnatomicalEntity ventral body wall The ventral part of the body wall. FMA:86934|EMAPA:37984 hp.json anterior body wall http://purl.obolibrary.org/obo/UBERON_0017648 UBERON:0017649 biolink:AnatomicalEntity dorsal body wall The dorsal part of the body wall. hp.json http://purl.obolibrary.org/obo/UBERON_0017649 HP:0005739 biolink:PhenotypicFeature Posterior subluxation of radial head Partial dislocation of the head of the radius in the posterior direction. UMLS:C3149878 hp.json http://purl.obolibrary.org/obo/HP_0005739 UBERON:0005662 biolink:AnatomicalEntity 4th arch ectoderm An ectoderm that is part of a pharyngeal arch 4. VHOG:0001095|RETIRED_EHDAA2:0000094|EMAPA:16768|EHDAA2:0004032|EMAPA:16764|EMAPA:16762 hp.json 4th pharyngeal arch ectoderm http://purl.obolibrary.org/obo/UBERON_0005662 UBERON:0005661 biolink:AnatomicalEntity 3rd arch ectoderm An ectoderm that is part of a pharyngeal arch 3. EMAPA:16584|VHOG:0000946|EMAPA:16582|EHDAA2:0000072|RETIRED_EHDAA2:0000079|EMAPA:16400 hp.json 3rd pharyngeal arch ectoderm http://purl.obolibrary.org/obo/UBERON_0005661 HP:0005736 biolink:PhenotypicFeature Short tibia Underdevelopment (reduced size) of the tibia. UMLS:C1855277|UMLS:C1850259 hp.json Shortening of the shankbone|Hypoplasia of the tibia|Hypoplastic tibia|Short tibiae|Shortening of the shinbone|Shortening of the tibia|Short skankbone|Short shinbone http://purl.obolibrary.org/obo/HP_0005736 UBERON:0005660 biolink:AnatomicalEntity 2nd arch ectoderm An ectoderm that is part of a pharyngeal arch 2. EMAPA:16397|RETIRED_EHDAA2:0000064|VHOG:0001062|EHDAA2:0000055|EMAPA:16398|EMAPA:16277 hp.json 2nd pharyngeal arch ectoderm http://purl.obolibrary.org/obo/UBERON_0005660 HP:0005731 biolink:PhenotypicFeature Cortical irregularity An abnormal irregularity of cortical bone. UMLS:C4025145 hp.json http://purl.obolibrary.org/obo/HP_0005731 HP:0005733 biolink:PhenotypicFeature Spinal stenosis with reduced interpedicular distance An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). UMLS:C4021625 hp.json Spinal stenosis due to short pedicles http://purl.obolibrary.org/obo/HP_0005733 UBERON:0005669 biolink:AnatomicalEntity peritoneal cavity mesothelium A mesothelium that is part of a peritoneal cavity. FMA:18147|EHDAA2:0001447|SCTID:34073007|EMAPA:16139|BTO:0003156 hp.json mesothelium of peritoneal component|peritoneum|peritoneum mesothelium|peritoneal mesothelium|peritoneal mesothelium|mesothelium of peritoneum http://purl.obolibrary.org/obo/UBERON_0005669 CHEBI:46629 biolink:ChemicalSubstance oxo group PDBeChem:O hp.json oxo|=O|OXO GROUP http://purl.obolibrary.org/obo/CHEBI_46629 3_STAR UBERON:0005667 biolink:AnatomicalEntity connecting stalk mesoderm EHDAA2:0000314 hp.json http://purl.obolibrary.org/obo/UBERON_0005667 UBERON:0005666 biolink:AnatomicalEntity 4th arch endoderm An endoderm that is part of a pharyngeal arch 4. RETIRED_EHDAA2:0000095|VHOG:0001092|EMAPA:16769|EHDAA2:0004033|EMAPA:16767|EMAPA:16765 hp.json 4th pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0005666 UBERON:0005665 biolink:AnatomicalEntity 3rd arch endoderm An endoderm that is part of a pharyngeal arch 3. EMAPA:16585|VHOG:0001081|RETIRED_EHDAA2:0000080|EHDAA2:0000075|EMAPA:16401|EMAPA:16587 hp.json 3rd pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0005665 UBERON:0005664 biolink:AnatomicalEntity 2nd arch endoderm An endoderm that is part of a pharyngeal arch 2. EMAPA:16278|RETIRED_EHDAA2:0000065|EMAPA:16276|EMAPA:16274|VHOG:0001108|EHDAA2:0000061 hp.json 2nd pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0005664 UBERON:0005649 biolink:AnatomicalEntity pedal digit 2 epithelium An epithelium that is part of a pedal digit 2. EHDAA2:0002043|EMAPA:17464 hp.json hind limb digit 2 epithelium|pedal digit II epithelium|foot digit 2 epithelium http://purl.obolibrary.org/obo/UBERON_0005649 HP:0005709 biolink:PhenotypicFeature 2-3 toe cutaneous syndactyly UMLS:C0432040|SNOMEDCT_US:205145001 hp.json Complete cutaneous syndactyly of second and third toes|Webbed skin of 2nd-3rd toes|Cutaneous 2,3 toe syndactyly|Cutaneous syndactyly of second and third toes http://purl.obolibrary.org/obo/HP_0005709 UBERON:0017635 biolink:AnatomicalEntity paired venous dural sinus FMA:52568 hp.json paired dural venous sinus http://purl.obolibrary.org/obo/UBERON_0017635 HP:0005707 biolink:PhenotypicFeature Bilateral triphalangeal thumbs A bilateral form of triphalangeal thumb. UMLS:C4021627 hp.json Bilateral digitalized thumb http://purl.obolibrary.org/obo/HP_0005707 UBERON:0005651 biolink:AnatomicalEntity pedal digit 4 epithelium An epithelium that is part of a pedal digit 4. EMAPA:17470|EHDAA2:0002053 hp.json pedal digit IV epithelium|hind limb digit 4 epithelium|foot digit 4 epithelium http://purl.obolibrary.org/obo/UBERON_0005651 HP:0005701 biolink:PhenotypicFeature Multiple enchondromatosis SNOMEDCT_US:268274005|UMLS:C0014084|MSH:D004687 hp.json http://purl.obolibrary.org/obo/HP_0005701 UBERON:0005650 biolink:AnatomicalEntity pedal digit 3 epithelium An epithelium that is part of a pedal digit 3. EHDAA2:0002048|EMAPA:17467 hp.json hind limb digit 3 epithelium|foot digit 3 epithelium|pedal digit III epithelium http://purl.obolibrary.org/obo/UBERON_0005650 HP:0005700 biolink:PhenotypicFeature Increased bone density with cystic changes UMLS:C4025151 hp.json http://purl.obolibrary.org/obo/HP_0005700 UBERON:0005659 biolink:AnatomicalEntity primary palate epithelium An epithelium that is part of a primary palate. VHOG:0001025|EMAPA:17643|EHDAA2:0001500|FMA:313406 hp.json http://purl.obolibrary.org/obo/UBERON_0005659 UBERON:0005658 biolink:AnatomicalEntity secondary palatal shelf epithelium An epithelium that is part of a secondary palatal shelf. FMA:312465|VHOG:0001040|EMAPA:17363|EHDAA2:0001365 hp.json palatal shelf epithelium http://purl.obolibrary.org/obo/UBERON_0005658 UBERON:0005656 biolink:AnatomicalEntity lens vesicle epithelium An epithelium that is part of a lens vesicle. EHDAA2:0000987|EMAPA:17165|VHOG:0000532 hp.json http://purl.obolibrary.org/obo/UBERON_0005656 UBERON:0005654 biolink:AnatomicalEntity lower jaw molar epithelium A dental epithelium that is part of a lower jaw molar. EHDAA2:0001026|EMAPA:17922 hp.json http://purl.obolibrary.org/obo/UBERON_0005654 UBERON:0005653 biolink:AnatomicalEntity upper jaw molar epithelium A dental epithelium that is part of a upper jaw molar. EHDAA2:0002126|EMAPA:17943 hp.json http://purl.obolibrary.org/obo/UBERON_0005653 UBERON:0005652 biolink:AnatomicalEntity pedal digit 5 epithelium An epithelium that is part of a pedal digit 5. EMAPA:17473|EHDAA2:0002058 hp.json hind limb digit 5 epithelium|pedal digit V epithelium|foot digit 5 epithelium http://purl.obolibrary.org/obo/UBERON_0005652 CHEBI:22653 biolink:ChemicalSubstance asparagine An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 2-amino-2-oxoethyl group. Beilstein:1723525|Reaxys:1723525|CAS:3130-87-8|Gmelin:279043|PMID:22264337|KEGG:C16438|PMID:22770225|Wikipedia:Asparagine hp.json N|2,4-diamino-4-oxobutanoic acid|asparagine|ASN|Asn|Asparagin|2-amino-3-carbamoylpropanoic acid|DL-Asparagine|Hasp|asparagina http://purl.obolibrary.org/obo/CHEBI_22653 3_STAR UBERON:0005638 biolink:AnatomicalEntity anterior chamber epithelium An epithelium that is part of a anterior chamber of eyeball. EHDAA2:0000130 hp.json http://purl.obolibrary.org/obo/UBERON_0005638 HP:0005716 biolink:PhenotypicFeature Lethal skeletal dysplasia UMLS:C4021626 hp.json Lethal dwarfism identifiable at birth http://purl.obolibrary.org/obo/HP_0005716 HP:0005715 biolink:PhenotypicFeature Flattened knee epiphyses UMLS:C4025150 hp.json Flattened end part of knee bone http://purl.obolibrary.org/obo/HP_0005715 UBERON:0005648 biolink:AnatomicalEntity manual digit 5 epithelium An epithelium that is part of a manual digit 5. EHDAA2:0000536|EMAPA:17442 hp.json hand digit 5 epithelium|fore limb digit 5 epithelium|manual digit V epithelium http://purl.obolibrary.org/obo/UBERON_0005648 UBERON:0005647 biolink:AnatomicalEntity manual digit 4 epithelium An epithelium that is part of a manual digit 4. EHDAA2:0000530|EMAPA:17439 hp.json fore limb digit 4 epithelium|manual digit IV epithelium|hand digit 4 epithelium http://purl.obolibrary.org/obo/UBERON_0005647 UBERON:0005646 biolink:AnatomicalEntity manual digit 3 epithelium An epithelium that is part of a manual digit 3. EMAPA:17436|EHDAA2:0000524 hp.json fore limb digit 3 epithelium|manual digit III epithelium|hand digit 3 epithelium http://purl.obolibrary.org/obo/UBERON_0005646 CHEBI:22658 biolink:ChemicalSubstance aspartate family amino acid An L-alpha-amino acid which is L-aspartic acid or any of the essential amino acids biosynthesised from it (asparagine, lysine, methionine, threonine and isoleucine). A closed class. PMID:4394351|PMID:4721772|PMID:4386082|PMID:5016260|PMID:5074276 hp.json oxaloacetate/aspartate family amino acids|oxaloacetate family amino acids|oxaloacetate family amino acid|oxaloacetate/aspartate family amino acid|aspartate family amino acids|aspartic acid family amino acids|aspartic acid family amino acid http://purl.obolibrary.org/obo/CHEBI_22658 3_STAR UBERON:0005645 biolink:AnatomicalEntity manual digit 2 epithelium An epithelium that is part of a manual digit 2. EMAPA:17433|EHDAA2:0000518 hp.json hand digit 2 epithelium|manual digit II epithelium|fore limb digit 2 epithelium http://purl.obolibrary.org/obo/UBERON_0005645 HGNC:6925 biolink:Gene MBP (human) A protein coding gene MBP in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6925 PATO:0001334 biolink:NamedThing diameter A length quality which is equal to the length of any straight line segment that passes through the center of a circle and whose endpoints are on the circular boundary. hp.json http://purl.obolibrary.org/obo/PATO_0001334 scalar_slim|attribute_slim|mpath_slim GO:0043576 biolink:BiologicalProcess regulation of respiratory gaseous exchange Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment. hp.json http://purl.obolibrary.org/obo/GO_0043576 GO:0043586 biolink:BiologicalProcess tongue development The process whose specific outcome is the progression of the tongue over time, from its formation to the mature structure. The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in many other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech. hp.json glossa development|lingua development http://purl.obolibrary.org/obo/GO_0043586 GO:0043588 biolink:BiologicalProcess skin development The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. hp.json animal skin development http://purl.obolibrary.org/obo/GO_0043588 GO:0043587 biolink:BiologicalProcess tongue morphogenesis The process in which the anatomical structures of the tongue are generated and organized. The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in man other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech. hp.json lingua morphogenesis|glossa morphogenesis http://purl.obolibrary.org/obo/GO_0043587 GO:0043589 biolink:BiologicalProcess skin morphogenesis The process in which the anatomical structures of the skin are generated and organized. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner, sensitive and vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. hp.json http://purl.obolibrary.org/obo/GO_0043589 PATO:0001354 biolink:NamedThing translucent A optical quality inhering in a bearer by virtue of the bearer's exhibiting low opacity. hp.json http://purl.obolibrary.org/obo/PATO_0001354 value_slim PATO:0001355 biolink:NamedThing convex A shape quality that obtains by virtue of the bearer having inward facing edges; having a surface or boundary that curves or bulges outward, as the exterior of a sphere. hp.json http://purl.obolibrary.org/obo/PATO_0001355 value_slim|cell_quality PATO:0001362 biolink:NamedThing fragile A structural quality inhering in a bearer by virtue of the bearer's disposition to being easily damaged or destroyed. hp.json http://purl.obolibrary.org/obo/PATO_0001362 disposition_slim|value_slim GO:0006586 biolink:BiologicalProcess indolalkylamine metabolic process The chemical reactions and pathways involving indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group. hp.json indolamine metabolism|indolamine metabolic process|indolalkylamine metabolism http://purl.obolibrary.org/obo/GO_0006586 GO:0006584 biolink:BiologicalProcess catecholamine metabolic process The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. hp.json catecholamine metabolism http://purl.obolibrary.org/obo/GO_0006584 HP:0003704 biolink:PhenotypicFeature Scapuloperoneal weakness UMLS:C1842161 hp.json Neurogenic scapuloperoneal syndrome http://purl.obolibrary.org/obo/HP_0003704 GO:0006582 biolink:BiologicalProcess melanin metabolic process The chemical reactions and pathways involving melanins, pigments largely of animal origin. High molecular weight polymers of indole quinone, they are irregular polymeric structures and are divided into three groups: allomelanins in the plant kingdom and eumelanins and phaeomelanins in the animal kingdom. hp.json melanin metabolism http://purl.obolibrary.org/obo/GO_0006582 HP:0003707 biolink:PhenotypicFeature Calf muscle pseudohypertrophy Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. UMLS:C1839666 hp.json Pseudohypertrophy of the calves http://purl.obolibrary.org/obo/HP_0003707 GO:0006590 biolink:NamedThing thyroid hormone generation hp.json http://purl.obolibrary.org/obo/GO_0006590 HP:0003701 biolink:PhenotypicFeature Proximal muscle weakness A lack of strength of the proximal muscles. UMLS:C1838869|SNOMEDCT_US:249939004|UMLS:C0221629 hp.json Muscle weakness, proximal|Proximal limb weakness|Proximal limb muscle weakness|Proximal neurogenic muscle weakness|Weakness in muscles of upper arms and upper legs http://purl.obolibrary.org/obo/HP_0003701 HP:0003700 biolink:PhenotypicFeature Generalized amyotrophy Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. UMLS:C1389113 hp.json Muscular atrophy, generalised|Muscle atrophy, generalised|Muscle atrophy, diffuse|Generalised muscle degeneration|Generalized muscle degeneration|Generalized muscle atrophy|Muscle atrophy, generalized|Diffuse skeletal muscle wasting|Diffuse muscle wasting|Muscular atrophy, generalized|Generalised amyotrophy|Generalised muscle atrophy|Diffuse muscle atrophy|Diffuse amyotrophy http://purl.obolibrary.org/obo/HP_0003700 PATO:0001309 biolink:NamedThing duration A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. hp.json period|time http://purl.obolibrary.org/obo/PATO_0001309 hpo_slim|attribute_slim HP:0003717 biolink:PhenotypicFeature Minimal subcutaneous fat UMLS:C1859442 hp.json Minimal fat below the skin http://purl.obolibrary.org/obo/HP_0003717 PATO:0001303 biolink:NamedThing variability A quality inhering in a bearer by virtue of the bearer's disposition to varying or changing. hp.json variability of a physical quality http://purl.obolibrary.org/obo/PATO_0001303 attribute_slim HP:0003716 biolink:PhenotypicFeature Generalized muscular appearance from birth UMLS:C1837799 hp.json Generalised muscular appearance from birth http://purl.obolibrary.org/obo/HP_0003716 HP:0003715 biolink:PhenotypicFeature Myofibrillar myopathy Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. MSH:C580316|UMLS:C2678065|SNOMEDCT_US:699269005 hp.json Myofibrillar changes http://purl.obolibrary.org/obo/HP_0003715 PATO:0001301 biolink:NamedThing chromatic property An optical quality that is the mixture, purity or pattern of wavelengths of light perceived by the observer. hp.json http://purl.obolibrary.org/obo/PATO_0001301 attribute_slim GO:0006591 biolink:BiologicalProcess ornithine metabolic process The chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. hp.json ornithine metabolism http://purl.obolibrary.org/obo/GO_0006591 HP:0003719 biolink:PhenotypicFeature Muscle mounding UMLS:C1853702 hp.json http://purl.obolibrary.org/obo/HP_0003719 HP:0003713 biolink:PhenotypicFeature Muscle fiber necrosis Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. UMLS:C1850848 hp.json Muscle fibre necrosis http://purl.obolibrary.org/obo/HP_0003713 HP:0003712 biolink:PhenotypicFeature Skeletal muscle hypertrophy Abnormal increase in muscle size and mass not due to training. UMLS:C2265792 hp.json Muscle hypertrophy|Muscular hypertrophy|Hypertrophic muscles|Increased skeletal muscle cells http://purl.obolibrary.org/obo/HP_0003712 PATO:0001300 biolink:NamedThing optical quality An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light. hp.json http://purl.obolibrary.org/obo/PATO_0001300 attribute_slim HP:0003710 biolink:PhenotypicFeature Exercise-induced muscle cramps Sudden and involuntary contractions of one or more muscles brought on by physical exertion. UMLS:C1855578 hp.json Muscle cramps on exercise|Exercise-induced muscle cramps|Exercise-induced muscle cramping|Muscle cramps on exertion|Muscle cramps with exertion|Muscle cramps following exercise http://purl.obolibrary.org/obo/HP_0003710 GO:0006568 biolink:BiologicalProcess tryptophan metabolic process The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. Wikipedia:Tryptophan hp.json tryptophan metabolism http://purl.obolibrary.org/obo/GO_0006568 GO:0006566 biolink:BiologicalProcess threonine metabolic process The chemical reactions and pathways involving threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins. UM-BBD_pathwayID:met hp.json methionine and threonine metabolism|threonine metabolism|methionine and threonine metabolic process http://purl.obolibrary.org/obo/GO_0006566 GO:0006563 biolink:BiologicalProcess L-serine metabolic process The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. hp.json L-serine metabolism http://purl.obolibrary.org/obo/GO_0006563 GO:0006560 biolink:BiologicalProcess proline metabolic process The chemical reactions and pathways involving proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins. hp.json proline metabolism http://purl.obolibrary.org/obo/GO_0006560 GO:0031514 biolink:CellularComponent motile cilium A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. hp.json motile primary cilium|microtubule-based flagellum|motile secondary cilium|motile cilia|motile primary cilia|nodal cilium http://purl.obolibrary.org/obo/GO_0031514 GO:0006577 biolink:BiologicalProcess amino-acid betaine metabolic process The chemical reactions and pathways involving any betaine, the N-trimethyl derivative of an amino acid. hp.json betaine metabolism|betaine metabolic process http://purl.obolibrary.org/obo/GO_0006577 GO:0006575 biolink:BiologicalProcess cellular modified amino acid metabolic process The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents. hp.json cellular amino acid derivative metabolism|cellular modified amino acid metabolism|modified amino acid metabolic process|cellular amino acid derivative metabolic process|modified amino acid metabolism|amino acid derivative metabolic process http://purl.obolibrary.org/obo/GO_0006575 goslim_drosophila|goslim_generic|prokaryote_subset GO:0006576 biolink:BiologicalProcess cellular biogenic amine metabolic process The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. hp.json biogenic amine metabolism http://purl.obolibrary.org/obo/GO_0006576 GO:0006573 biolink:BiologicalProcess valine metabolic process The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid. hp.json valine metabolism http://purl.obolibrary.org/obo/GO_0006573 GO:0006570 biolink:BiologicalProcess tyrosine metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. Wikipedia:Tyrosine|UM-BBD_pathwayID:tyr hp.json tyrosine metabolism http://purl.obolibrary.org/obo/GO_0006570 PR:000007891 biolink:Protein pro-glucagon A protein that is a translation product of the human GCG gene or a 1:1 ortholog thereof. hp.json GCG http://purl.obolibrary.org/obo/PR_000007891 UBERON:0030276 biolink:AnatomicalEntity lumbar spinal cord ventral horn BIRNLEX:891 hp.json lumbar spinal cord ventral horn|lumbar spinal cord anterior horn|lumbar spinal cord ventral horn http://purl.obolibrary.org/obo/UBERON_0030276 HP:0025093 biolink:PhenotypicFeature Peripapillary exudate A retinal exudate in the area surrounding the optic nerve head. hp.json Peripapillary exudation http://purl.obolibrary.org/obo/HP_0025093 HP:0025094 biolink:PhenotypicFeature Disciform macular scar A subretinal scar with a disc-like shape in the region of the macula. hp.json http://purl.obolibrary.org/obo/HP_0025094 HP:0025095 biolink:PhenotypicFeature Sneeze A sudden violent, spasmodic, audible expiration of breath through the nose and mouth. hp.json http://purl.obolibrary.org/obo/HP_0025095 HP:0025096 biolink:PhenotypicFeature Paroxysmal sneezing Unprovoked explosive pathological sneezing. hp.json http://purl.obolibrary.org/obo/HP_0025096 HP:0025097 biolink:PhenotypicFeature Eyelid myoclonus Marked, involuntary jerking of the eyelids. hp.json Eyelid myoclonia|Blepharoclonus http://purl.obolibrary.org/obo/HP_0025097 HP:0025098 biolink:PhenotypicFeature Dysgenesis of the hypothalamus Structural abnormality of the hypothalamus related to defective development. hp.json Hypothalamic dysgenesis http://purl.obolibrary.org/obo/HP_0025098 HP:0025099 biolink:PhenotypicFeature Dysgenesis of the thalamus Structural abnormality of the thalamus related to defective development. hp.json Thalamic dysgenesis http://purl.obolibrary.org/obo/HP_0025099 HP:0025090 biolink:PhenotypicFeature Abnormal large intestinal mucosa morphology A structural anomaly of the mucous lining of the large intestine. hp.json http://purl.obolibrary.org/obo/HP_0025090 HP:0025092 biolink:PhenotypicFeature Epidermal acanthosis Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). hp.json Acanthotic epidermis|Acanthosis|Thickening of upper layer of skin http://purl.obolibrary.org/obo/HP_0025092 CHEBI:32832 biolink:ChemicalSubstance threoninate hp.json rel-(2R,3S)-2-amino-3-hydroxybutanoate|threoninate|threonine anion http://purl.obolibrary.org/obo/CHEBI_32832 3_STAR CHEBI:32833 biolink:ChemicalSubstance threoninium hp.json rel-(1R,2S)-1-carboxy-2-hydroxypropan-1-aminium|threonine cation|threoninium http://purl.obolibrary.org/obo/CHEBI_32833 3_STAR GO:0043500 biolink:BiologicalProcess muscle adaptation A process in which muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. These adaptive events occur in both muscle fibers and associated structures (motoneurons and capillaries), and they involve alterations in regulatory mechanisms, contractile properties and metabolic capacities. hp.json muscle plasticity http://purl.obolibrary.org/obo/GO_0043500 goslim_pir GO:0043502 biolink:BiologicalProcess regulation of muscle adaptation Any process that modulates the frequency, rate or extent of muscle adaptation. hp.json regulation of muscle plasticity http://purl.obolibrary.org/obo/GO_0043502 GO:0043501 biolink:BiologicalProcess skeletal muscle adaptation Any process in which skeletal muscles change their phenotypic profiles in response to altered functional demands and a variety of signals. hp.json skeletal muscle plasticity http://purl.obolibrary.org/obo/GO_0043501 GO:0043504 biolink:BiologicalProcess mitochondrial DNA repair The process of restoring mitochondrial DNA after damage. hp.json http://purl.obolibrary.org/obo/GO_0043504 HP:0025082 biolink:PhenotypicFeature Abnormal cutaneous elastic fiber morphology Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. hp.json Abnormal cutaneous elastic fibre morphology http://purl.obolibrary.org/obo/HP_0025082 HP:0025083 biolink:PhenotypicFeature Elevated dermal desmosine content An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin. hp.json http://purl.obolibrary.org/obo/HP_0025083 HP:0025084 biolink:PhenotypicFeature Folliculitis Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. hp.json Follicular pustule http://purl.obolibrary.org/obo/HP_0025084 HP:0025085 biolink:PhenotypicFeature Bloody diarrhea Passage of many stools containing blood. hp.json Bloody diarrhea|Bloody stool|Bloody bowel movement|Bloody diarrhoea|Blood in stool http://purl.obolibrary.org/obo/HP_0025085 HP:0025086 biolink:PhenotypicFeature Bloody mucoid diarrhea Passage of many stools containing blood and mucus. hp.json Bloody mucoid diarrhoea http://purl.obolibrary.org/obo/HP_0025086 HP:0025087 biolink:PhenotypicFeature Delayed recoil upon stretching of skin Area of skin requiring an increased amount of time to return to its original shape after being stretched. hp.json http://purl.obolibrary.org/obo/HP_0025087 HP:0025088 biolink:PhenotypicFeature Onychomadesis Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth. hp.json http://purl.obolibrary.org/obo/HP_0025088 HP:0025089 biolink:PhenotypicFeature Feculent vomiting Vomiting of material that is of fecal origin. hp.json Stercoraceous vomiting|Vomiting faecal matter|Faecal vomiting|Vomiting fecal matter|Fecal vomiting http://purl.obolibrary.org/obo/HP_0025089 HP:0025080 biolink:PhenotypicFeature Orthokeratotic hyperkeratosis A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. hp.json http://purl.obolibrary.org/obo/HP_0025080 UBERON:0017271 biolink:AnatomicalEntity upper primary premolar tooth hp.json maxillary primary premolar tooth|upper deciduous premolar tooth http://purl.obolibrary.org/obo/UBERON_0017271 UBERON:0017272 biolink:AnatomicalEntity lower primary premolar tooth hp.json mandibular primary premolar tooth|lower deciduous premolar tooth http://purl.obolibrary.org/obo/UBERON_0017272 HP:0025081 biolink:PhenotypicFeature Darier's sign A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. hp.json http://purl.obolibrary.org/obo/HP_0025081 UBERON:0005291 biolink:AnatomicalEntity embryonic tissue A portion of tissue that is part of an embryo. CALOHA:TS-2100 hp.json developing tissue|portion of embryonic tissue http://purl.obolibrary.org/obo/UBERON_0005291 upper_level|pheno_slim UBERON:0005290 biolink:AnatomicalEntity myelencephalon The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. Wikipedia:Myelencephalon|MA:0000205|HBA:9512|EHDAA2:0001207|CALOHA:TS-2365|BTO:0000758|EHDAA:5526|DHBA:10662|CALOHA:TS-0607|MESH:D054024|VHOG:0000456|EMAPA:17082 hp.json myelencephalon (medulla oblongata) http://purl.obolibrary.org/obo/UBERON_0005290 uberon_slim UBERON:0005299 biolink:AnatomicalEntity prepuce of clitoris A retractable double-layered fold of skin and mucous membrane that covers the clitoral glans. FMA:20169|NCIT:C32590|EMAPA:30699|UMLS:C0227771 hp.json prepuce of female|preputium clitoridis|prepuce of the clitoris|clitoral prepuce|clitoris prepuce|clitoral hood http://purl.obolibrary.org/obo/UBERON_0005299 HP:0025079 biolink:PhenotypicFeature Pancreatic abscess A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas. hp.json Pancreas abscess http://purl.obolibrary.org/obo/HP_0025079 UBERON:0005298 biolink:AnatomicalEntity skin of clitoris A zone of skin that is part of a clitoris [Automatically generated definition]. FMA:20168 hp.json clitoris skin http://purl.obolibrary.org/obo/UBERON_0005298 UBERON:0005297 biolink:AnatomicalEntity testis sex cord The testis cords are precursors to the rete testis. They play several different roles in the development of the male genitals[WP]. EHDAA2:0002011|VHOG:0001321|EHDAA:8152|EMAPA:29098 hp.json testis primary sex cords|primary sex cord|testis primitive sex cord|testis cord http://purl.obolibrary.org/obo/UBERON_0005297 pheno_slim UBERON:0005296 biolink:AnatomicalEntity ovary sex cord Structures that develop from sex cords in the female. After further development they become the ovarian follicles. EMAPA:31058|EHDAA:8130|VHOG:0001339|NCIT:C34134|UMLS:C1511527|EHDAA2:0001363 hp.json cortical cord|secondary cord|ovigerous cord|cortical sex cord|ovary primitive sex cord|ovigerous cords http://purl.obolibrary.org/obo/UBERON_0005296 UBERON:0005295 biolink:AnatomicalEntity sex cord Cordlike masses of epithelial tissue that invaginate from germinal epithelium of the gonad and give rise to seminiferous tubules and rete testes in the male, and primary ovarian follicles and rete ovarii in the female. RETIRED_EHDAA2:0001523|NCIT:C34183|EHDAA2:0004051|UMLS:C1512242 hp.json gonadal cord|genital cord|gonad cord|primitive sex cord http://purl.obolibrary.org/obo/UBERON_0005295 UBERON:0005294 biolink:AnatomicalEntity gonadal ridge The elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary. NCIT:C34184|XAO:0000018|EHDAA2:0004044|FMA:321917|EFO:0001414|UMLS:C1512243|AAO:0011047|NCIT:C34321|BTO:0001402|UMLS:C0231047|EMAPA:35899 hp.json genital ridge|gonadal ridge|crista gonadalis|genital cord|indifferent gonadal ridge http://purl.obolibrary.org/obo/UBERON_0005294 pheno_slim|efo_slim OIO:hasOBONamespace biolink:NamedThing has_obo_namespace hp.json http://www.geneontology.org/formats/oboInOwl#hasOBONamespace UBERON:0005292 biolink:AnatomicalEntity extraembryonic tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. MAT:0000061|BTO:0003360|EFO:0001406|MIAA:0000061|CALOHA:TS-2119 hp.json extra-embryonic tissue http://purl.obolibrary.org/obo/UBERON_0005292 efo_slim HP:0025071 biolink:PhenotypicFeature U wave inversion Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves. hp.json http://purl.obolibrary.org/obo/HP_0025071 CHEBI:17203 biolink:ChemicalSubstance L-proline Pyrrolidine in which the pro-S hydrogen at position 2 is substituted by a carboxylic acid group. L-Proline is the only one of the twenty DNA-encoded amino acids which has a secondary amino group alpha to the carboxyl group. It is an essential component of collagen and is important for proper functioning of joints and tendons. It also helps maintain and strengthen heart muscles. PMID:16033917|KEGG:D00035|PMID:15973048|Wikipedia:L-proline|PMID:16668324|PMID:16657874|PMID:14975886|PMID:17608428|PMID:15838615|PMID:16656443|PMID:15894682|MetaCyc:PRO|PMID:22201772|PMID:17127472|PMID:22482728|PMID:16501220|Gmelin:50152|PMID:16190672|PMID:19688381|PDBeChem:PRO|PMID:22491679|PMID:18551589|PMID:18802692|PMID:11076505|Beilstein:80810|Reaxys:80810|PMID:22451406|PMID:15576824|CAS:147-85-3|PMID:19215998|HMDB:HMDB0000162|KNApSAcK:C00001388|PMID:22139509|KEGG:C00148|PMID:19811425|CAS:147-85-3|PMID:22475019|PMID:19656302|DrugBank:DB00172|PMID:18973300|PMID:12770004|PMID:22770225|CAS:147-85-3|Drug_Central:4125|PMID:19580280 hp.json proline|(S)-2-pyrrolidinecarboxylic acid|L-Prolin|PROLINE|(2S)-pyrrolidine-2-carboxylic acid|L-pyrrolidine-2-carboxylic acid|(-)-2-pyrrolidinecarboxylic acid|L-proline|(S)-2-carboxypyrrolidine|prolina|prolinum|(S)-pyrrolidine-2-carboxylic acid|(-)-(S)-proline|P|L-alpha-pyrrolidinecarboxylic acid|L-(-)-proline|(-)-proline|2-Pyrrolidinecarboxylic acid|L-Proline http://purl.obolibrary.org/obo/CHEBI_17203 3_STAR UBERON:0017270 biolink:AnatomicalEntity secondary premolar tooth hp.json secondary premolar|permanent premolar tooth|secondary bicuspid http://purl.obolibrary.org/obo/UBERON_0017270 HP:0025072 biolink:PhenotypicFeature Prominent U wave Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave. hp.json Increased U wave amplitude http://purl.obolibrary.org/obo/HP_0025072 HP:0025073 biolink:PhenotypicFeature Exercise-induced U wave inversion U wave inversion that is induced by exercise stress testing. hp.json http://purl.obolibrary.org/obo/HP_0025073 HP:0025074 biolink:PhenotypicFeature Abnormal QRS complex An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. hp.json http://purl.obolibrary.org/obo/HP_0025074 HP:0025075 biolink:PhenotypicFeature Increased QRS voltage Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). hp.json http://purl.obolibrary.org/obo/HP_0025075 HP:0025076 biolink:PhenotypicFeature Abnormal QRS voltage Abnormal amplitude of the QRS complex of the electrocardiogram (EKG). hp.json http://purl.obolibrary.org/obo/HP_0025076 HP:0025077 biolink:PhenotypicFeature Decreased QRS voltage Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm. hp.json http://purl.obolibrary.org/obo/HP_0025077 HP:0025078 biolink:PhenotypicFeature Electrical alternans The QRS complexes of the electrocardiogram alternate in height. hp.json http://purl.obolibrary.org/obo/HP_0025078 UBERON:0017261 biolink:AnatomicalEntity intertarsal sesamoid A sesamoid element that is part of a tarsal skeleton. hp.json tarsal sesamoid http://purl.obolibrary.org/obo/UBERON_0017261 HP:0025070 biolink:PhenotypicFeature Abnormal U wave An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3. hp.json http://purl.obolibrary.org/obo/HP_0025070 CHEBI:32816 biolink:ChemicalSubstance pyruvic acid A 2-oxo monocarboxylic acid that is the 2-keto derivative of propionic acid. It is a metabolite obtained during glycolysis. DrugBank:DB00119|PMID:11762589|KEGG:C00022|PMID:22150460|CAS:127-17-3|Wikipedia:Pyruvic_acid|Beilstein:506211|MetaCyc:PYRUVATE|Reaxys:506211|LIPID_MAPS_instance:LMFA01060077|HMDB:HMDB0000243|CAS:127-17-3|PMID:22233273|PMID:19260671|PMID:22735334|YMDB:YMDB00175|Gmelin:101087|PDBeChem:PYR|KNApSAcK:C00001200|ECMDB:ECMDB00243|PMID:22770225 hp.json alpha-ketopropionic acid|acide pyruvique|Brenztraubensaeure|CH3COCOOH|BTS|2-Oxopropanoic acid|Pyruvic acid|Pyroracemic acid|alpha-Oxopropionsaeure|acetylformic acid|2-ketopropionic acid|2-Oxopropansaeure|PYRUVIC ACID|2-oxopropanoic acid|2-Oxopropionsaeure|Acetylformic acid|2-oxopropanoic acid|pyruvic acid http://purl.obolibrary.org/obo/CHEBI_32816 3_STAR UBERON:0017269 biolink:AnatomicalEntity primary premolar tooth hp.json primary bicuspid|deciduous premolar tooth|primary premolar http://purl.obolibrary.org/obo/UBERON_0017269 UBERON:0005288 biolink:AnatomicalEntity tela choroidea of third ventricle Tela chorioidea that lines the third ventricle[ZFA]. The part of the choroid plexus in relation to the body of the ventricle forms the vascular fringed margin of a triangular process of pia mater, named the tela chorioidea of the third ventricle, and projects from under cover of the lateral edge of the fornix. Blood is supplied by branches from the superior cerebellar artery[WP]. TAO:0005159|BAMS:tc3v|FMA:78463|ZFA:0005159 hp.json tela choroidea ventriculi tertii|tela choroidea ventriculi tertii|tela chorioidea of third ventricle|choroid membrane of third ventricle|tela chorioidea third ventricle|tela choroidea third ventricle http://purl.obolibrary.org/obo/UBERON_0005288 vertebrate_core HP:0025068 biolink:PhenotypicFeature Incomitant strabismus Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. hp.json http://purl.obolibrary.org/obo/HP_0025068 UBERON:0005287 biolink:AnatomicalEntity tela choroidea of fourth ventricle Tela chorioidea that lines the fourth ventricle[ZFA]. The tela chorioidea of the fourth ventricle is the name applied to the triangular fold of pia mater which is carried upward between the cerebellum and the medulla oblongata. It consists of two layers, which are continuous with each other in front, and are more or less adherent throughout: The posterior layer covers the antero-inferior surface of the cerebellum. The anterior layer is applied to the structures which form the lower part of the roof of the ventricle, and is continuous inferiorly with the pia mater on the inferior peduncles and closed part of the medulla[WP]. TAO:0005158|BAMS:tc4v|FMA:78493|ZFA:0005158 hp.json choroid membrane of fourth ventricle|tela choroidea of fourth ventricle|tela choroidea fourth ventricle|choroid membrane|tela choroidea|tela choroidea ventriculi quarti|tela choroidea ventriculi quarti|tela chorioidea fourth ventricle http://purl.obolibrary.org/obo/UBERON_0005287 vertebrate_core HP:0025069 biolink:PhenotypicFeature Concomitant strabismus Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing. hp.json Comitant strabismus http://purl.obolibrary.org/obo/HP_0025069 UBERON:0005286 biolink:AnatomicalEntity tela choroidea of midbrain cerebral aqueduct Tela choroidea that lines the tectal ventricle. TAO:0005157|ZFA:0005157 hp.json tela chorioidea tectal ventricle|tela choroidea tectal ventricle|tela choroidea of cerebral aqueduct http://purl.obolibrary.org/obo/UBERON_0005286 GO:0043524 biolink:BiologicalProcess negative regulation of neuron apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. hp.json down-regulation of neuron apoptosis|neuron survival|negative regulation of programmed cell death, neurons|downregulation of neuron apoptosis|negative regulation of neuron apoptosis|down regulation of neuron apoptosis|inhibition of neuron apoptosis http://purl.obolibrary.org/obo/GO_0043524 UBERON:0005283 biolink:AnatomicalEntity tela choroidea A structure found in the walls of the ventricles of the brain, consisting of part of the meninges (pia mater in mammals) plus ependyma[cjm]. ZFA:0000447|TAO:0000447|FMA:242849 hp.json tela chorioidea http://purl.obolibrary.org/obo/UBERON_0005283 vertebrate_core|pheno_slim GO:0043523 biolink:BiologicalProcess regulation of neuron apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process in neurons. hp.json regulation of programmed cell death of neuronal cells|regulation of programmed cell death, neurons|regulation of neuronal cell programmed cell death|regulation of neuron apoptosis|regulation of apoptosis of neurons|regulation of apoptosis of neuronal cells|regulation of neuron programmed cell death http://purl.obolibrary.org/obo/GO_0043523 UBERON:0005282 biolink:AnatomicalEntity ventricular system of brain VHOG:0000005|CALOHA:TS-1295|EMAPA:37447|FMA:242787 hp.json brain ventricular system http://purl.obolibrary.org/obo/UBERON_0005282 UBERON:0005281 biolink:AnatomicalEntity ventricular system of central nervous system A set of structures containing cerebrospinal fluid in the brain. It is continuous with the central canal of the spinal cord[WP]. FMA:242675|TAO:0001261|EHDAA2:0004362|EFO:0003650|EV:0100306|MBA:73|ZFA:0001261 hp.json ventriculi cerebri|ventricular system of neuraxis|ventricle system|ventricular system|CNS ventricular system http://purl.obolibrary.org/obo/UBERON_0005281 efo_slim|vertebrate_core GO:0043525 biolink:BiologicalProcess positive regulation of neuron apoptotic process Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process. hp.json upregulation of neuron apoptosis|up regulation of neuron apoptosis|stimulation of neuron apoptosis|activation of neuron apoptosis|up-regulation of neuron apoptosis|positive regulation of programmed cell death, neurons|positive regulation of neuron apoptosis http://purl.obolibrary.org/obo/GO_0043525 HP:0025060 biolink:PhenotypicFeature Multifocal splenic abscess Multiple abscess lesions in the spleen. hp.json Multilocular splenic abscess http://purl.obolibrary.org/obo/HP_0025060 HP:0025061 biolink:PhenotypicFeature Unifocal splenic abscess Single (solitary) abscess in the spleen. hp.json Unilocular splenic abscess|Solitary splenic abscess http://purl.obolibrary.org/obo/HP_0025061 HP:0025062 biolink:PhenotypicFeature Geophagia The practice of eating earth or soil-like substrates such as clay or chalk. hp.json Geophagy http://purl.obolibrary.org/obo/HP_0025062 HP:0025063 biolink:PhenotypicFeature Scaphoid abdomen The anterior abdominal wall is sunken and presents a concave rather than a convex contour. hp.json http://purl.obolibrary.org/obo/HP_0025063 HP:0025064 biolink:PhenotypicFeature Thalamic hemorrhage Bleeding in the thalamus. hp.json Thalamic haemorrhage http://purl.obolibrary.org/obo/HP_0025064 HP:0025065 biolink:PhenotypicFeature Abnormal mean corpuscular volume A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters. hp.json Abnormal MCV|Abnormal erythrocyte volume http://purl.obolibrary.org/obo/HP_0025065 HP:0025066 biolink:PhenotypicFeature Decreased mean corpuscular volume A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). hp.json Decreased MCV|Reduced erythrocyte volume|Microcytosis http://purl.obolibrary.org/obo/HP_0025066 UBERON:0005289 biolink:AnatomicalEntity tela choroidea of telencephalic ventricle Tela chorioidea that lines the telencephalic ventricle. ZFA:0005160|BAMS:tclv|TAO:0005160|FMA:83712 hp.json tela choroidea telencephalic ventricle|tela chorioidea telencephalic ventricle|tela chorioidea of lateral ventricle|tela choroidea of lateral ventricle|tela choroidea (ventriculi lateralis)|tela chorioidea of telencephalic ventricle http://purl.obolibrary.org/obo/UBERON_0005289 vertebrate_core GO:0043535 biolink:BiologicalProcess regulation of blood vessel endothelial cell migration Any process that modulates the frequency, rate or extent of the migration of the endothelial cells of blood vessels. hp.json http://purl.obolibrary.org/obo/GO_0043535 GO:0043534 biolink:BiologicalProcess blood vessel endothelial cell migration The orderly movement of an endothelial cell into the extracellular matrix in order to form new blood vessels during angiogenesis. hp.json http://purl.obolibrary.org/obo/GO_0043534 GO:0043537 biolink:BiologicalProcess negative regulation of blood vessel endothelial cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of the migration of the endothelial cells of blood vessels. hp.json down-regulation of blood vessel endothelial cell migration|down regulation of blood vessel endothelial cell migration|inhibition of blood vessel endothelial cell migration|downregulation of blood vessel endothelial cell migration http://purl.obolibrary.org/obo/GO_0043537 GO:0043536 biolink:BiologicalProcess positive regulation of blood vessel endothelial cell migration Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels. hp.json stimulation of blood vessel endothelial cell migration|upregulation of blood vessel endothelial cell migration|up-regulation of blood vessel endothelial cell migration|up regulation of blood vessel endothelial cell migration|activation of blood vessel endothelial cell migration http://purl.obolibrary.org/obo/GO_0043536 GO:0043542 biolink:BiologicalProcess endothelial cell migration The orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. hp.json http://purl.obolibrary.org/obo/GO_0043542 GO:0043549 biolink:BiologicalProcess regulation of kinase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. hp.json http://purl.obolibrary.org/obo/GO_0043549 UBERON:4100000 biolink:AnatomicalEntity skeletal element projection Anatomical projection that is composed of bone or cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_4100000 GO:0031594 biolink:CellularComponent neuromuscular junction The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. Wikipedia:Neuromuscular_junction|NIF_Subcellular:sao1124888485 hp.json motor endplate|NMJ http://purl.obolibrary.org/obo/GO_0031594 CHEBI:17151 biolink:ChemicalSubstance xylitol A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from xylose by reduction of the carbonyl group. PMID:17216457|CAS:87-99-0|PMID:16708791|Gmelin:82893|PMID:11154411|PMID:23338824|PMID:16901854|PMID:18316079|PMID:12061879|CAS:87-99-0|PMID:23287496|CAS:87-99-0|Beilstein:1720523|PMID:23916161|PMID:15377394|Reaxys:1720523|PMID:25108762|PMID:23589387|PMID:22791282|PMID:17979222|KEGG:D00061|PMID:23957303|PMID:23796483|PMID:20030329|Drug_Central:4604|PMID:24643482|PDBeChem:XYL|PMID:22735334|PMID:23615861|PMID:24012734|HMDB:HMDB0002917|KEGG:C00379|PMID:11163479|PMID:23247825|MetaCyc:XYLITOL|PMID:17336832|DrugBank:DB01904|PMID:23597921|Wikipedia:Xylitol|PMID:17216458 hp.json (2R,3R,4S)-Pentane-1,2,3,4,5-pentaol|xylitol|xylite|Xylit|(2R,3r,4S)-pentane-1,2,3,4,5-pentol|L-xylitol|Xylitol|D-XYLITOL|meso-xylitol http://purl.obolibrary.org/obo/CHEBI_17151 3_STAR CHEBI:42111 biolink:ChemicalSubstance (R)-lactic acid An optically active form of lactic acid having (R)-configuration. Wikipedia:Lactic_acid|HMDB:HMDB0001311|PMID:22277286|PDBeChem:LAC|Gmelin:362718|PMID:22127808|KNApSAcK:C00019549|DrugBank:DB04398|Beilstein:1720252|Reaxys:1720252|DrugBank:DB03066|CAS:10326-41-7|KEGG:C00256|CAS:10326-41-7|PMID:22344644|PMID:21842515 hp.json D-2-Hydroxypropionic acid|LACTIC ACID|(2R)-2-hydroxypropanoic acid|D-Milchsaeure|(R)-(-)-lactic acid|D-Lactic acid|D-lactic acid|(-)-lactic acid|D-2-Hydroxypropanoic acid http://purl.obolibrary.org/obo/CHEBI_42111 3_STAR HP:0001046 biolink:PhenotypicFeature Intermittent jaundice Jaundice that is sometimes present, sometimes not. UMLS:C4025805 hp.json Intermittent yellow skin|Intermittent icterus|Intermittent yellowing of skin http://purl.obolibrary.org/obo/HP_0001046 secondary_consequence HP:0025013 biolink:PhenotypicFeature Decerebrate rigidity A type of rigidity that is manifested by an exaggerated extensor posture of all extremities. hp.json Decerebrate posturing http://purl.obolibrary.org/obo/HP_0025013 HP:0001047 biolink:PhenotypicFeature Atopic dermatitis Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. SNOMEDCT_US:200775004|SNOMEDCT_US:24079001|UMLS:C0011615|MSH:D003876|UMLS:C4280605 hp.json Atopic dermatitis, chronic|Baby eczema|Dermatitis, Atopic http://purl.obolibrary.org/obo/HP_0001047 HP:0025014 biolink:PhenotypicFeature Subcutaneous spheroids Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. hp.json http://purl.obolibrary.org/obo/HP_0025014 UBERON:0005352 biolink:AnatomicalEntity spermatic cord The cord-like structure in males comprising the vas deferens and associated tissue that runs from the abdomen down to each testis[MP]. NCIT:C12329|UMLS:C0037855|GAID:395|FMA:19937|MESH:D013085 hp.json spermatic chord|funiculus spermaticus http://purl.obolibrary.org/obo/UBERON_0005352 pheno_slim HP:0025015 biolink:PhenotypicFeature Abnormal vascular morphology hp.json http://purl.obolibrary.org/obo/HP_0025015 HP:0001045 biolink:PhenotypicFeature Vitiligo UMLS:C0042900|SNOMEDCT_US:56727007|MSH:D014820 hp.json Blotchy loss of skin colour|Blotchy loss of skin color http://purl.obolibrary.org/obo/HP_0001045 HP:0025016 biolink:PhenotypicFeature Abnormal capillary morphology A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. hp.json http://purl.obolibrary.org/obo/HP_0025016 CHEBI:32784 biolink:ChemicalSubstance tyrosinate(1-) An alpha-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group. Gmelin:329372|Beilstein:3548387|Beilstein:4139515 hp.json 2-amino-3-(4-hydroxyphenyl)propanoate|hydrogen tyrosinate|tyrosine anion|tyrosinate(1-) http://purl.obolibrary.org/obo/CHEBI_32784 3_STAR HP:0025017 biolink:PhenotypicFeature Capillary fragility Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises). hp.json http://purl.obolibrary.org/obo/HP_0025017 CHEBI:32785 biolink:ChemicalSubstance tyrosinate(2-) hp.json tyrosine dianion|tyrosinate|2-amino-3-(4-oxidophenyl)propanoate|tyrosinate(2-) http://purl.obolibrary.org/obo/CHEBI_32785 3_STAR HP:0025018 biolink:PhenotypicFeature Abnormal capillary physiology A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. hp.json http://purl.obolibrary.org/obo/HP_0025018 CHEBI:32786 biolink:ChemicalSubstance tyrosinium An alpha-amino-acid cation that is the conjugate acid of tyrosine, arising from protonation of the amino group. hp.json tyrosine cation|1-carboxy-2-(4-hydroxyphenyl)ethanaminium|tyrosinium http://purl.obolibrary.org/obo/CHEBI_32786 3_STAR HP:0001048 biolink:PhenotypicFeature Cavernous hemangioma The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. SNOMEDCT_US:33377007|UMLS:C0018920|SNOMEDCT_US:56975005|NCIT:C3086|MSH:D006392|SNOMEDCT_US:416824008|MEDDRA:10055899 hp.json Cavernous haemangioma|Collection of dilated blood vessels that forms mass|Cavernous angioma http://purl.obolibrary.org/obo/HP_0001048 hposlim_core HP:0025019 biolink:PhenotypicFeature Arterial rupture Sudden breakage of an artery leading to leakage of blood from the circulation. hp.json http://purl.obolibrary.org/obo/HP_0025019 HP:0001049 biolink:PhenotypicFeature Absent dorsal skin creases over affected joints UMLS:C1861400 hp.json http://purl.obolibrary.org/obo/HP_0001049 HP:0001042 biolink:PhenotypicFeature High axial triradius UMLS:C4025806 hp.json http://purl.obolibrary.org/obo/HP_0001042 UBERON:0005358 biolink:AnatomicalEntity ventricle of nervous system A layer in the central nervous system that lines system of communicating cavities in the brain and spinal cord. FMA:242770|EMAPA:35209 hp.json region of wall of ventricular system of neuraxis|ventricular layer http://purl.obolibrary.org/obo/UBERON_0005358 HP:0025010 biolink:PhenotypicFeature Foveal atrophy Partial or complete loss of foveal tissue that was once present. hp.json http://purl.obolibrary.org/obo/HP_0025010 HP:0001043 biolink:PhenotypicFeature Prominent scalp veins UMLS:C1856542 hp.json Prominent scalp veins http://purl.obolibrary.org/obo/HP_0001043 UBERON:0005356 biolink:AnatomicalEntity Rathke's pouch A pouch of ectoderm that grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland[MP]. In embryogenesis, Rathke's pouch is a depression in the roof of the developing mouth in front of the buccopharyngeal membrane. It gives rise to the anterior pituitary (adenohypophysis), a part of the endocrine system[WP]. NCIT:C34281|AAO:0011094|XAO:0000430|EHDAA2:0001588|FMA:302929|UMLS:C0229548|NCIT:C54098|UMLS:C1709841|EMAPA:16725|VHOG:0000674 hp.json nasohypophyseal pouch|pouch of Rathke|hypophyseal pouch|craniopharyngeal pouch|Rathke's cleft|Rathke's cyst|Rathke pouch|Rathkes pouch epithelium|Rathke's pocket|craniobuccal pouch|adenohypophysial pouch|pituitary diverticulum|hypophyseal diverticulum http://purl.obolibrary.org/obo/UBERON_0005356 pheno_slim HP:0001040 biolink:PhenotypicFeature Multiple pterygia UMLS:C1867448 hp.json http://purl.obolibrary.org/obo/HP_0001040 HP:0025011 biolink:PhenotypicFeature Pyriform aperture stenosis Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. hp.json http://purl.obolibrary.org/obo/HP_0025011 HP:0001041 biolink:PhenotypicFeature Facial erythema Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. MSH:D012393|UMLS:C0005874|SNOMEDCT_US:271811009|UMLS:C0239488|SNOMEDCT_US:20255002|MSH:D001821|SNOMEDCT_US:398909004|UMLS:C4020880|UMLS:C0035854 hp.json Blushing|Ruddy face|Blushed cheeks|Red face|Rosacea|Red in the face http://purl.obolibrary.org/obo/HP_0001041 HP:0025012 biolink:PhenotypicFeature Status cribrosum Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. hp.json http://purl.obolibrary.org/obo/HP_0025012 UBERON:0005343 biolink:AnatomicalEntity cortical plate The outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers[MP]. PBA:294021914|BAMS:CTXpl|EMAPA:32711|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2702|MBA:695|DHBA:10515 hp.json CxP|CP|neocortex cortical plate|future neocortex|future neocortex|future cortical layers II-VI|cerebral cortex cortical plate|future cortical layers II-VI|CxP http://purl.obolibrary.org/obo/UBERON_0005343 pheno_slim HP:0001057 biolink:PhenotypicFeature Aplasia cutis congenita A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. SNOMEDCT_US:254237003|SNOMEDCT_US:74223008|MEDDRA:10002963|UMLS:C0282160|UMLS:C0265989|MSH:D004476|SNOMEDCT_US:35484002 hp.json Congenital scars|Congenital absence of skin|Cutis aplasia|Absence of part of skin at birth http://purl.obolibrary.org/obo/HP_0001057 hposlim_core PR:000007812 biolink:Protein UDP-glucose 4-epimerase A protein that is a translation product of the human GALE gene or a 1:1 ortholog thereof. hp.json UDP-GlcNAc 4-epimerase|UDP-N-acetylglucosamine 4-epimerase|galactowaldenase|UDP-GalNAc 4-epimerase|GALE|UDP-galactose 4-epimerase http://purl.obolibrary.org/obo/PR_000007812 HP:0001058 biolink:PhenotypicFeature Poor wound healing A reduced ability to heal cutaneous wounds. UMLS:C1851789 hp.json Poor wound healing http://purl.obolibrary.org/obo/HP_0001058 hposlim_core HP:0001055 biolink:PhenotypicFeature Erysipelas Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. MEDDRA:10015145|SNOMEDCT_US:44653001|SNOMEDCT_US:51510002|UMLS:C0014714|MSH:D004886|UMLS:C0014733|MSH:D004881 hp.json St. Anthony's Fire http://purl.obolibrary.org/obo/HP_0001055 hposlim_core HP:0025004 biolink:PhenotypicFeature Hallux rigidus Osteoarthritis of the metatarsophalangeal joint of the first toe. SNOMEDCT_US:6654000|UMLS:C0264134|MSH:D020859 hp.json Arthritis of the big toe http://purl.obolibrary.org/obo/HP_0025004 UBERON:0005341 biolink:AnatomicalEntity ventral commissure The fiber tracts that connect the ventral region of the two cerebral hemispheres and span the longitudinal fissure, including the anterior and the habenular commissures[MP]. EMAPA:37845 hp.json http://purl.obolibrary.org/obo/UBERON_0005341 pheno_slim HP:0025005 biolink:PhenotypicFeature Thickening of glomerular capillary wall Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. hp.json http://purl.obolibrary.org/obo/HP_0025005 HP:0001056 biolink:PhenotypicFeature Milia Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. SNOMEDCT_US:254679001|SNOMEDCT_US:37719003|SNOMEDCT_US:254683001|UMLS:C0345996 hp.json Milk spot|Millium cyst http://purl.obolibrary.org/obo/HP_0001056 hposlim_core UBERON:0005340 biolink:AnatomicalEntity dorsal telencephalic commissure A fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure[MP]. NLX:147892|EMAPA:37844 hp.json dorsal commissure http://purl.obolibrary.org/obo/UBERON_0005340 pheno_slim HP:0025006 biolink:PhenotypicFeature Abnormal glomerular capillary morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. hp.json Abnormalities of the glomerular capillary wall http://purl.obolibrary.org/obo/HP_0025006 HP:0025007 biolink:PhenotypicFeature Ectopic fovea An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina. hp.json Ectopic macula http://purl.obolibrary.org/obo/HP_0025007 CHEBI:32796 biolink:ChemicalSubstance (R)-2-hydroxyglutaric acid The (R)-enantiomer of 2-hydroxyglutaric acid. KEGG:C02911|MetaCyc:R-2-HYDROXYGLUTARATE|Beilstein:1723806|Reaxys:1723806|KEGG:C01087 hp.json (R)-Hydroxyglutarate|(2R)-2-hydroxypentanedioic acid|(R)-2-Hydroxyglutarate http://purl.obolibrary.org/obo/CHEBI_32796 3_STAR CHEBI:32797 biolink:ChemicalSubstance (S)-2-hydroxyglutaric acid KEGG:C03196|MetaCyc:CPD-381|CAS:13095-48-2|Gmelin:1218919|Reaxys:1723807|Beilstein:1723807 hp.json (2S)-2-hydroxypentanedioic acid|(S)-2-Hydroxyglutarate http://purl.obolibrary.org/obo/CHEBI_32797 3_STAR HP:0025008 biolink:PhenotypicFeature Tracheal tug on inspiration Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree. hp.json http://purl.obolibrary.org/obo/HP_0025008 HP:0001059 biolink:PhenotypicFeature Pterygium Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. MSH:D011625|SNOMEDCT_US:77489003|UMLS:C0033999 hp.json Pterygia http://purl.obolibrary.org/obo/HP_0001059 HP:0025009 biolink:PhenotypicFeature Forward slanting upper incisors The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards. hp.json Protruding upper incisors|Proclination of the upper incisors|Forward directed upper incisors http://purl.obolibrary.org/obo/HP_0025009 CHEBI:17137 biolink:ChemicalSubstance hydrogensulfite CAS:15181-46-1|CAS:15181-46-1|PDBeChem:SO3|Gmelin:1455|KEGG:C11481 hp.json hydrogentrioxosulfate(1-)|hydrogen(trioxidosulfate)(1-)|hydrogentrioxosulfate(IV)|Bisulfite|hydrosulfite anion|bisulfite|[SO2(OH)](-)|monohydrogentrioxosulfate|hydrogen sulfite(1-)|HSO3(-)|Hydrogen sulfite|HSO3-|bisulphite|hydrogensulfite(1-)|hydroxidodioxidosulfate(1-) http://purl.obolibrary.org/obo/CHEBI_17137 3_STAR HP:0001050 biolink:PhenotypicFeature Plethora SNOMEDCT_US:75246004|UMLS:C0232370 hp.json http://purl.obolibrary.org/obo/HP_0001050 HP:0001053 biolink:PhenotypicFeature Hypopigmented skin patches UMLS:C1836735 hp.json Patchy loss of skin color|Patchy loss of skin colour http://purl.obolibrary.org/obo/HP_0001053 HP:0001054 biolink:PhenotypicFeature Numerous nevi UMLS:C1849677 hp.json Multiple pigmented nevi|Numerous moles http://purl.obolibrary.org/obo/HP_0001054 HP:0001051 biolink:PhenotypicFeature Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. UMLS:C0036508|SNOMEDCT_US:50563003|UMLS:C3806554|SNOMEDCT_US:86708008|MSH:D012628 hp.json Seborrheic eczema|Seborrhea|Dysseborrheic dermatitis http://purl.obolibrary.org/obo/HP_0001051 HP:0001052 biolink:PhenotypicFeature Nevus flammeus A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. SNOMEDCT_US:416377005|MEDDRA:10067193|MSH:D019339|SNOMEDCT_US:254211001|UMLS:C0235752 hp.json Nevus simplex|port-wine stain http://purl.obolibrary.org/obo/HP_0001052 hposlim_core HP:0003687 biolink:PhenotypicFeature Centrally nucleated skeletal muscle fibers An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). UMLS:C1842170 hp.json Centralised sarcomeric nuclei|Centralised nuclei|Centralized sarcomeric nuclei|Centrally nucleated skeletal muscle fibres|Centralized nuclei|Central nuclei http://purl.obolibrary.org/obo/HP_0003687 HP:0001024 biolink:PhenotypicFeature Skin dimple over apex of long bone angulation UMLS:C1855815 hp.json http://purl.obolibrary.org/obo/HP_0001024 UBERON:0005332 biolink:AnatomicalEntity mesonephric S-shaped body The mesonephric S-shaped body is the successor of the mesonephric comma-shaped body that contributes to the morphogenesis of a nephron in the mesonephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005332 HP:0001025 biolink:PhenotypicFeature Urticaria Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. SNOMEDCT_US:64305001|MEDDRA:10046735|MSH:D014581|UMLS:C0042109|SNOMEDCT_US:247472004|SNOMEDCT_US:126485001 hp.json Hives http://purl.obolibrary.org/obo/HP_0001025 hposlim_core UBERON:0005331 biolink:AnatomicalEntity mesonephric renal vesicle The renal vesicle is the primordial structure of the mesonephric nephron epithelium, and is formed by the condensation of mesenchymal cells[GO]. ZFA:0005586 hp.json mesonephric vesicle http://purl.obolibrary.org/obo/UBERON_0005331 HP:0001022 biolink:PhenotypicFeature Albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). MSH:D000417|UMLS:C0001916|UMLS:C0333913|SNOMEDCT_US:18064000|SNOMEDCT_US:15890002 hp.json Achromasia|Albinism http://purl.obolibrary.org/obo/HP_0001022 UBERON:0007997 biolink:AnatomicalEntity sesamoid bone of manus A sesamoid bone that is part of a manus. FMA:42353 hp.json sesamoid bone of hand http://purl.obolibrary.org/obo/UBERON_0007997 UBERON:0005330 biolink:AnatomicalEntity mesonephric nephron epithelium The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005330 HP:0001028 biolink:PhenotypicFeature Hemangioma A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). UMLS:C0018916|SNOMEDCT_US:253053003|SNOMEDCT_US:400210000|NCIT:C3085|SNOMEDCT_US:2099007|MSH:D006391 hp.json Hemangiomata|Strawberry mark http://purl.obolibrary.org/obo/HP_0001028 HP:0001029 biolink:PhenotypicFeature Poikiloderma Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. MEDDRA:10057041|SNOMEDCT_US:402685001|UMLS:C0392777|SNOMEDCT_US:70114006 hp.json http://purl.obolibrary.org/obo/HP_0001029 hposlim_core HP:0001026 biolink:PhenotypicFeature Penetrating foot ulcers UMLS:C4025809 hp.json Penetrating foot ulcers http://purl.obolibrary.org/obo/HP_0001026 HP:0003689 biolink:PhenotypicFeature Multiple mitochondrial DNA deletions The presence of multiple deletions of mitochondrial DNA (mtDNA). UMLS:C3277376 hp.json Multiple mtDNA deletions http://purl.obolibrary.org/obo/HP_0003689 HP:0001027 biolink:PhenotypicFeature Soft, doughy skin A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. UMLS:C1849043 hp.json Soft, doughy skin http://purl.obolibrary.org/obo/HP_0001027 HP:0003688 biolink:PhenotypicFeature Cytochrome C oxidase-negative muscle fibers An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. UMLS:C4021724 hp.json Decreased activity of cytochrome C oxidase in muscle tissue|Cytochrome C oxidase-negative muscle fibres|Cytochrome c oxidase deficiency in skeletal muscle|Decreased skeletal muscle cytochrome c oxidase activity http://purl.obolibrary.org/obo/HP_0003688 UBERON:0005339 biolink:AnatomicalEntity outflow tract pulmonary component VHOG:0001395|MA:0000102|EHDAA2:0001359|EMAPA:17330|EHDAA:4401 hp.json http://purl.obolibrary.org/obo/UBERON_0005339 UBERON:0005338 biolink:AnatomicalEntity outflow tract aortic component An outflow tract that is part of a aorta. EHDAA2:0001353|EMAPA:17329|VHOG:0001394|MA:0000101 hp.json http://purl.obolibrary.org/obo/UBERON_0005338 UBERON:0005337 biolink:AnatomicalEntity outflow tract of ventricle A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. XAO:0004140|FMA:13225|Wikipedia:Ventricular_outflow_tract hp.json ventricular outflow tract|ventricular outflow tract|outflow part of ventricle|heart ventricle outflow tract http://purl.obolibrary.org/obo/UBERON_0005337 HP:0003683 biolink:PhenotypicFeature Large beaked nose UMLS:C4025579 hp.json Large beaked nose http://purl.obolibrary.org/obo/HP_0003683 HP:0003682 biolink:PhenotypicFeature Variable progression rate Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another. UMLS:C1970284 hp.json http://purl.obolibrary.org/obo/HP_0003682 UBERON:0005334 biolink:AnatomicalEntity oral lamina propria A lamina propria that is part of a mucosa of oral region. EMAPA:26947 hp.json lamina propria of oral mucosa http://purl.obolibrary.org/obo/UBERON_0005334 HP:0003680 biolink:PhenotypicFeature Nonprogressive Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. SNOMEDCT_US:702322003|UMLS:C3839460 hp.json Non-progressive|Stationary|Nonprogressive disorder|Does not worsen|Nonprogressive course http://purl.obolibrary.org/obo/HP_0003680 UBERON:0005333 biolink:AnatomicalEntity mammary bud A bulb of epithelial cells that forms from the mammary placode that develops into the mammary gland. EMAPA:35536 hp.json lactiferous gland bud|mammary primordium|mammary gland bud|milk bud http://purl.obolibrary.org/obo/UBERON_0005333 UBERON:0005319 biolink:AnatomicalEntity mesonephric collecting duct The collecting duct is the final common path through which urine flows before entering the ureter and then emptying into the bladder[GO]. XAO:0000151|AAO:0010390 hp.json http://purl.obolibrary.org/obo/UBERON_0005319 UBERON:0005321 biolink:AnatomicalEntity mesonephric smooth muscle tissue hp.json http://purl.obolibrary.org/obo/UBERON_0005321 HP:0003698 biolink:PhenotypicFeature Difficulty standing SNOMEDCT_US:249902000|UMLS:C0241237 hp.json Difficulty in standing|Standing instability http://purl.obolibrary.org/obo/HP_0003698 HP:0001036 biolink:PhenotypicFeature Parakeratosis Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. MSH:D010241|SNOMEDCT_US:200766001|SNOMEDCT_US:65068000|UMLS:C0030436 hp.json http://purl.obolibrary.org/obo/HP_0001036 HP:0003697 biolink:PhenotypicFeature Scapuloperoneal amyotrophy Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. UMLS:C1842162 hp.json Scapuloperoneal atrophy http://purl.obolibrary.org/obo/HP_0003697 HP:0003696 biolink:PhenotypicFeature Absent epiphysis of the distal phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger. UMLS:C4025577 hp.json Absent end part of the outermost bone of the pinkie finger|Absent end part of the outermost bone of the little finger|Absent end part of the outermost bone of the pinky finger http://purl.obolibrary.org/obo/HP_0003696 HP:0001033 biolink:PhenotypicFeature Facial flushing after alcohol intake UMLS:C4025808 hp.json Facial flushing after alcohol intake http://purl.obolibrary.org/obo/HP_0001033 secondary_consequence HP:0001034 biolink:PhenotypicFeature Hypermelanotic macule A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. UMLS:C1842774 hp.json Hyperpigmented spots|Hyperpigmented skin patches|Hyperpigmented macules http://purl.obolibrary.org/obo/HP_0001034 HP:0001039 biolink:PhenotypicFeature Atheroeruptive xanthoma UMLS:C4025807 hp.json http://purl.obolibrary.org/obo/HP_0001039 HP:0001038 biolink:PhenotypicFeature Warfarin-induced skin necrosis UMLS:C1867638 hp.json http://purl.obolibrary.org/obo/HP_0001038 secondary_consequence HP:0003690 biolink:PhenotypicFeature Limb muscle weakness Reduced strength and weakness of the muscles of the arms and legs. UMLS:C0587246|SNOMEDCT_US:713514005 hp.json Limb muscle weakness|Limb weakness http://purl.obolibrary.org/obo/HP_0003690 UBERON:0005328 biolink:AnatomicalEntity mesonephric comma-shaped body The mesonephric comma-shaped body is the precursor structure to the mesonephric S-shaped body that contributes to the morphogenesis of a nephron in the mesonephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005328 UBERON:0005327 biolink:AnatomicalEntity mesonephric glomerular epithelium A mesonephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the mesonephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005327 UBERON:0005326 biolink:AnatomicalEntity mesonephric glomerulus vasculature The mesonephric glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the mesonephric glomerulus[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005326 UBERON:0005325 biolink:AnatomicalEntity mesonephric glomerulus The mesonephric glomerulus is a capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the mature vertebrate kidney, or mesonephros[GO]. VHOG:0001238|XAO:0000146|EMAPA:30568|AAO:0010388 hp.json glomerulus http://purl.obolibrary.org/obo/UBERON_0005325 HP:0003694 biolink:PhenotypicFeature Late-onset proximal muscle weakness Lack of strength of the proximal musculature occurring late in the clinical course. UMLS:C4025578 hp.json http://purl.obolibrary.org/obo/HP_0003694 HP:0001031 biolink:PhenotypicFeature Subcutaneous lipoma The presence of subcutaneous lipoma. UMLS:C1403035|NCIT:C3192 hp.json http://purl.obolibrary.org/obo/HP_0001031 HP:0001032 biolink:PhenotypicFeature Absent distal interphalangeal creases Absence of the distal interphalangeal flexion creases of the fingers. UMLS:C1861349 hp.json Distal finger flexion creases absent|Aplasia of the distal interphalangeal creases|Absence of skin creases over distal interphalangeal joints http://purl.obolibrary.org/obo/HP_0001032 HP:0003693 biolink:PhenotypicFeature Distal amyotrophy Muscular atrophy affecting muscles in the distal portions of the extremities. UMLS:C1848736 hp.json Amyotrophy of distal limb muscles|Muscle atrophy, distal|Distal muscle atrophy, upper and lower limbs|Distal amyotrophy, especially of the hands and feet|Distal muscle atrophy|Distal limb muscle atrophy|Distal muscle degeneration|Distal muscular atrophy|Distal muscle wasting http://purl.obolibrary.org/obo/HP_0003693 UBERON:0005323 biolink:AnatomicalEntity mesonephric mesenchyme Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. XAO:0000291|EHDAA2:0001132|EMAPA:16745|AAO:0011062 hp.json http://purl.obolibrary.org/obo/UBERON_0005323 pheno_slim HP:0001030 biolink:PhenotypicFeature Fragile skin Skin that splits easily with minimal injury. UMLS:C0241181|MEDDRA:10040851|SNOMEDCT_US:247427007 hp.json Fragile skin|Skin fragility http://purl.obolibrary.org/obo/HP_0001030 hposlim_core UBERON:0005322 biolink:AnatomicalEntity mesonephric nephron A nephron that is part of a mesonephros. ZFA:0005592|AAO:0010387|XAO:0000292 hp.json stage IV nephron|nephron of mesonephros http://purl.obolibrary.org/obo/UBERON_0005322 HP:0003691 biolink:PhenotypicFeature Scapular winging Abnormal protrusion of the scapula away from the surface of the back. MEDDRA:10067628|UMLS:C0240953|SNOMEDCT_US:17211005|UMLS:C4072849 hp.json Winged shoulder blade|Scapular weakness|Winged scapulae|Winged scapulas|Scapula alata http://purl.obolibrary.org/obo/HP_0003691 hposlim_core HP:0001090 biolink:PhenotypicFeature Abnormally large globe Diffusely large eye (with megalocornea) without glaucoma. UMLS:C4280603|UMLS:C1855852|UMLS:C0423221|SNOMEDCT_US:246920008 hp.json Large eyes|Large of palpebral fissures|Large eyeballs|Megalophthalmos|Increased size of eyes|Increased size of palpebral fissures http://purl.obolibrary.org/obo/HP_0001090 HP:0025057 biolink:PhenotypicFeature Abnormality of olfactory lobe morphology A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell. hp.json http://purl.obolibrary.org/obo/HP_0025057 UBERON:0005398 biolink:AnatomicalEntity female reproductive gland A sex gland that is part of a female reproductive system. MA:0000383|BTO:0000254 hp.json http://purl.obolibrary.org/obo/UBERON_0005398 organ_slim|pheno_slim HP:0025058 biolink:PhenotypicFeature Hypothalamic atrophy Partial or complete wasting (loss) of hypothalamus tissue that was once present. hp.json Atrophy of the hypothalamus http://purl.obolibrary.org/obo/HP_0025058 UBERON:0005397 biolink:AnatomicalEntity brain arachnoid mater An arachnoid mater that surrounds a brain. FMA:83981|MA:0000814|NCIT:C49331|EMAPA:32661|VHOG:0000230 hp.json brain arachnoid matter|arachnoidea mater encephali|cranial arachnoid mater|arachnoidea mater cranialis http://purl.obolibrary.org/obo/UBERON_0005397 UBERON:0005396 biolink:AnatomicalEntity carotid artery segment One of: the common carotid artery, or its branches, the external and internal carotid arteries. ZFA:0000097|EMAPA:18609|Wikipedia:Carotid_artery|UMLS:C0007272|BTO:0000168|TAO:0000097|MA:0001925|OpenCyc:Mx4rvg7rcJwpEbGdrcN5Y29ycA|CALOHA:TS-0116|EHDAA:6385|EFO:0000818|VHOG:0000266|FMA:70504|GAID:478|SCTID:69105007|MESH:D002339|SCTID:362040006|galen:CarotidArtery|AAO:0010217|MAT:0000501|NCIT:C12687|EV:0100379 hp.json carotid|subdivision of common carotid artery|carotid artery|common carotid arterial subdivision http://purl.obolibrary.org/obo/UBERON_0005396 grouping_class|pheno_slim|efo_slim|vertebrate_core HP:0025059 biolink:PhenotypicFeature Splenic abscess A circumscribed area of pus or necrotic debris in the parenchyma of the spleen. hp.json http://purl.obolibrary.org/obo/HP_0025059 HP:0001088 biolink:PhenotypicFeature Brushfield spots The presence of whitish spots in a ring-like arrangement at the periphery of the iris. SNOMEDCT_US:400960002|UMLS:C4280604|UMLS:C1303007 hp.json Iris brushfield spots|Speckled iris http://purl.obolibrary.org/obo/HP_0001088 hposlim_core HP:0001089 biolink:PhenotypicFeature Iris atrophy Loss of iris tissue (atrophy) UMLS:C0423319|SNOMEDCT_US:95709007 hp.json Iris degeneration http://purl.obolibrary.org/obo/HP_0001089 HP:0001082 biolink:PhenotypicFeature Cholecystitis The presence of inflammatory changes in the gallbladder. MSH:D002764|SNOMEDCT_US:76581006|UMLS:C0008325 hp.json Gallbladder inflammation http://purl.obolibrary.org/obo/HP_0001082 HP:0001083 biolink:PhenotypicFeature Ectopia lentis Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. MSH:D004479|SNOMEDCT_US:74969002|UMLS:C0013581|MSH:D007906|UMLS:C0023309 hp.json Lens dislocation|Abnormality of lens position http://purl.obolibrary.org/obo/HP_0001083 hposlim_core HP:0025050 biolink:PhenotypicFeature Elevated brain creatine level by MRS An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). hp.json Elevated brain creatine level by magnetic resonance spectroscopy http://purl.obolibrary.org/obo/HP_0025050 HP:0001080 biolink:PhenotypicFeature Biliary tract abnormality An abnormality of the biliary tree. MSH:D001660|UMLS:C0005424|UMLS:C0549613|SNOMEDCT_US:105997008 hp.json Biliary tract disease http://purl.obolibrary.org/obo/HP_0001080 HP:0025051 biolink:PhenotypicFeature Reduced brain creatine level by MRS A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). hp.json Reduced brain creatine level by magnetic resonance spectroscopy|Low brain creatine phosphate http://purl.obolibrary.org/obo/HP_0025051 HP:0001081 biolink:PhenotypicFeature Cholelithiasis Hard, pebble-like deposits that form within the gallbladder. SNOMEDCT_US:266474003|UMLS:C0008350|MSH:D002769 hp.json Gallstones http://purl.obolibrary.org/obo/HP_0001081 HP:0025052 biolink:PhenotypicFeature Abnormal brain N-acetyl aspartate level by MRS A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). hp.json Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy http://purl.obolibrary.org/obo/HP_0025052 HP:0025053 biolink:PhenotypicFeature Elevated brain N-acetyl aspartate level by MRS An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). hp.json Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy http://purl.obolibrary.org/obo/HP_0025053 HP:0001087 biolink:PhenotypicFeature Developmental glaucoma Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. UMLS:C0020302|SNOMEDCT_US:204113001|SNOMEDCT_US:413728006|MSH:D006871 hp.json Pediatric glaucoma|Childhood glaucoma|Paediatric glaucoma|Infantile glaucoma http://purl.obolibrary.org/obo/HP_0001087 HP:0001084 biolink:PhenotypicFeature Corneal arcus A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. SNOMEDCT_US:231925004|SNOMEDCT_US:231924000|MSH:D001112|UMLS:C0003742|SNOMEDCT_US:111522004|UMLS:C0339268 hp.json Arcus lipoidis|Corneal annulus|Arcus juvenilis|Arcus senilis|Gerontoxon|Anterior embryotoxon http://purl.obolibrary.org/obo/HP_0001084 HP:0001085 biolink:PhenotypicFeature Papilledema Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. SNOMEDCT_US:73221001|MSH:D010211|UMLS:C0030353|SNOMEDCT_US:423341008|SNOMEDCT_US:248487006 hp.json Papillitis http://purl.obolibrary.org/obo/HP_0001085 hposlim_core UBERON:0005399 biolink:AnatomicalEntity male reproductive gland A sex gland that is part of a male reproductive system. BTO:0000080|EMAPA:19285|MA:0000399 hp.json accessory sex gland http://purl.obolibrary.org/obo/UBERON_0005399 organ_slim|pheno_slim CHEBI:29103 biolink:ChemicalSubstance potassium(1+) A monoatomic monocation obtained from potassium. Gmelin:15203|PDBeChem:K|KEGG:C00238|CAS:24203-36-9|KEGG:D08403 hp.json potassium(I) cation|POTASSIUM ION|potassium cation|potassium(1+)|K(+)|K(+)|K+|potassium(1+) ion http://purl.obolibrary.org/obo/CHEBI_29103 3_STAR CHEBI:29101 biolink:ChemicalSubstance sodium(1+) A monoatomic monocation obtained from sodium. CAS:17341-25-2|Gmelin:15196|CAS:17341-25-2|KEGG:C01330|PDBeChem:NA hp.json sodium(1+)|Na+|sodium cation|sodium(1+) ion|sodium(I) cation|Na(+)|SODIUM ION|Na(+) http://purl.obolibrary.org/obo/CHEBI_29101 3_STAR HP:0025046 biolink:PhenotypicFeature Reduced brain lactate level by MRS A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). hp.json Reduced brain lactate level by magnetic resonance spectroscopy http://purl.obolibrary.org/obo/HP_0025046 HP:0025047 biolink:PhenotypicFeature Abnormal brain choline level by MRS A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). hp.json Abnormal brain choline level by magnetic resonance spectroscopy http://purl.obolibrary.org/obo/HP_0025047 PR:000007856 biolink:Protein gastrin A protein that is a translation product of the human GAST gene or a 1:1 ortholog thereof. hp.json GAS|GAST http://purl.obolibrary.org/obo/PR_000007856 HP:0025048 biolink:PhenotypicFeature Reduced brain choline level by MRS An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). hp.json Reduced brain choline level by magnetic resonance spectroscopy http://purl.obolibrary.org/obo/HP_0025048 HP:0001099 biolink:PhenotypicFeature Fundus atrophy UMLS:C2673929 hp.json http://purl.obolibrary.org/obo/HP_0001099 PR:000007857 biolink:Protein erythroid transcription factor A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof. hp.json NF-E1 DNA-binding protein|GATA-binding factor 1|GF-1|ERYF1|GATA1|GATA-1|GF1|Eryf1 http://purl.obolibrary.org/obo/PR_000007857 HP:0025049 biolink:PhenotypicFeature Abnormal brain creatine level by MRS hp.json Abnormal brain creatine level by magnetic resonance spectroscopy http://purl.obolibrary.org/obo/HP_0025049 UBERON:0005384 biolink:AnatomicalEntity nasal cavity epithelium An epithelium that lines the nasal cavity. VHOG:0000501|CALOHA:TS-0656|EMAPA:17605|FMA:63140|NCIT:C49261|MA:0001324|EHDAA:6803|EHDAA2:0001227|UMLS:C1709151 hp.json nasal mucosa|nasal epithelium http://purl.obolibrary.org/obo/UBERON_0005384 pheno_slim PR:000007858 biolink:Protein endothelial transcription factor GATA-2 A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof. hp.json GATA-binding protein 2|GATA2 http://purl.obolibrary.org/obo/PR_000007858 UBERON:0005383 biolink:AnatomicalEntity caudate-putamen Regional part of telencephalon in some species, e.g., rodent, equivalent to the dorsal striatum (caudate nucleus and putamen). Unlike the dorsal striatum of primates, for example, the caudoputamen is not split into separate nuclei by the fibers of the internal capsule. Rather, the internal capsule splits into fiber bundles which course through the structure. BTO:0000212|EMAPA:19095|NLXANAT:100312|MBA:672|BAMS:CPu|BAMS:CP|BM:Tel-C-Pu|EFO:0001912|MA:0000893 hp.json caudate putamen|caudateputamen|caudate-putamen|dorsal striatum|neostriatum|caudate putamen|caudoputamen|caudate putamen (striatum)|caudateputamen|striatum http://purl.obolibrary.org/obo/UBERON_0005383 pheno_slim|efo_slim UBERON:0005382 biolink:AnatomicalEntity dorsal striatum Dorsal components of the striatum comprising the caudate nucleus and the putamen, in species that have distinct nuclei; the caudoputamen in species which don't. BAMS:STRd|BAMS:StrD|BTO:0004701|BAMS:Dorsal_striatum|FMA:77620|MBA:485|NLXANAT:1010001|EMAPA:36575|PBA:10081|MA:0002971 hp.json caudoputamen|striatum dorsale|striatum dorsal region|corpus striatum|striated body|dorsal basal ganglion|dorsal basal ganglia http://purl.obolibrary.org/obo/UBERON_0005382 UBERON:0005381 biolink:AnatomicalEntity dentate gyrus granule cell layer Granule cell layer is also called the DG principal cell layer. This one of the three layers of dentate gyrus that lies deep to the molecular layer and is made of densely packed layer that is four to eight granule cells thick. DMBA:16122|BAMS:sg|BAMS:DG-sg|FMA:83146|MBA:632|MA:0000946|BAMS:GrDG|BIRNLEX:4129|EMAPA:35276 hp.json granular layer of the dentate gyrus|DG granule cell layer|granular layer of dentate gyrus|stratum granulare gyri dentati|dentate gyrus, granule cell layer http://purl.obolibrary.org/obo/UBERON_0005381 pheno_slim HP:0001093 biolink:PhenotypicFeature Optic nerve dysplasia The presence of developmental dysplasia of the optic nerve. UMLS:C2676026 hp.json http://purl.obolibrary.org/obo/HP_0001093 CHEBI:78113 biolink:ChemicalSubstance fatty acid anion 3:0 Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. hp.json fatty acid 3:0 http://purl.obolibrary.org/obo/CHEBI_78113 3_STAR HP:0001094 biolink:PhenotypicFeature Iridocyclitis A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. MSH:D015863|SNOMEDCT_US:77971008|UMLS:C0022073 hp.json http://purl.obolibrary.org/obo/HP_0001094 NCBITaxon:7586 biolink:OrganismalEntity Echinodermata hp.json http://purl.obolibrary.org/obo/NCBITaxon_7586 HP:0025040 biolink:PhenotypicFeature Thalamic edema Swelling within the thalamus due to the accumulation of fluid. hp.json Oedema of the thalamus|Edema of the thalamus|Thalamic oedema http://purl.obolibrary.org/obo/HP_0025040 HP:0025041 biolink:PhenotypicFeature Thalamic calcification Calcium deposition in the thalamus. hp.json http://purl.obolibrary.org/obo/HP_0025041 HP:0001092 biolink:PhenotypicFeature Absent lacrimal punctum No identifiable superior and/or inferior lacrimal punctum. SNOMEDCT_US:204208005|UMLS:C1867060|SNOMEDCT_US:253217007|UMLS:C0344509|MSH:C566703 hp.json Agenesis of the lacrimal punctum|Absent lacrimal puncta|Lacrimal puncta aplasia|Absent lacrimal gland puncta|Aplasia of lacrimal puncta|Lacrimal punctum, absence|Absent lacrimal openings http://purl.obolibrary.org/obo/HP_0001092 hposlim_core HP:0001097 biolink:PhenotypicFeature Keratoconjunctivitis sicca Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. UMLS:C0043349|MSH:D007638|MSH:D014985|UMLS:C0013238|UMLS:C2930821|UMLS:C0022575|SNOMEDCT_US:363677007|MSH:D015352|MSH:C531719|SNOMEDCT_US:46152009|SNOMEDCT_US:302896008 hp.json Dry eyes|Keratitis sicca|Dry eye syndrome|Xerophthalmia http://purl.obolibrary.org/obo/HP_0001097 hposlim_core HP:0025042 biolink:PhenotypicFeature Abnormality of mesenteric lymph nodes A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery. hp.json http://purl.obolibrary.org/obo/HP_0025042 HP:0025043 biolink:PhenotypicFeature Enlarged mesenteric lymph node Increase in size of one or more mesenteric lymph nodes. hp.json http://purl.obolibrary.org/obo/HP_0025043 HP:0001098 biolink:PhenotypicFeature Abnormal fundus morphology Any structural abnormality of the fundus of the eye. UMLS:C4025804 hp.json Abnormality of the fundus http://purl.obolibrary.org/obo/HP_0001098 HP:0025044 biolink:PhenotypicFeature Lung abscess A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity. hp.json http://purl.obolibrary.org/obo/HP_0025044 CHEBI:78116 biolink:ChemicalSubstance fatty acid anion 6:0 Any saturated fatty acid anion containing 6 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. hp.json fatty acid 6:0 http://purl.obolibrary.org/obo/CHEBI_78116 3_STAR HP:0001095 biolink:PhenotypicFeature Hypertensive retinopathy UMLS:C0152132|SNOMEDCT_US:6962006|MSH:D058437 hp.json http://purl.obolibrary.org/obo/HP_0001095 secondary_consequence UBERON:0005389 biolink:AnatomicalEntity transparent eye structure A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. hp.json lens http://purl.obolibrary.org/obo/UBERON_0005389 grouping_class HP:0025045 biolink:PhenotypicFeature Abnormal brain lactate level by MRS A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). hp.json Abnormal lactate level by magnetic resonance spectroscopy http://purl.obolibrary.org/obo/HP_0025045 HP:0001096 biolink:PhenotypicFeature Keratoconjunctivitis Inflammation of the cornea and conjunctiva. SNOMEDCT_US:88151007|MSH:D007637|UMLS:C0022573 hp.json http://purl.obolibrary.org/obo/HP_0001096 hposlim_core CHEBI:78115 biolink:ChemicalSubstance fatty acid anion 4:0 Any saturated fatty acid anion containing 4 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. hp.json fatty acid 4:0 http://purl.obolibrary.org/obo/CHEBI_78115 3_STAR UBERON:0005388 biolink:AnatomicalEntity photoreceptor array An array of photoreceptors and any supporting cells found in an eye. FBbt:00004200 hp.json light-sensitive tissue http://purl.obolibrary.org/obo/UBERON_0005388 CHEBI:32727 biolink:ChemicalSubstance tryptophanate An alpha-amino-acid anion that is the conjugate base of tryptophan, arising from deprotonation of the carboxy group. Gmelin:331342|Reaxys:4144998|Beilstein:4144997 hp.json trp(-)|tryptophan anion|tryptophanate|2-amino-3-(1H-indol-3-yl)propanoate http://purl.obolibrary.org/obo/CHEBI_32727 3_STAR CHEBI:32728 biolink:ChemicalSubstance tryptophanium An alpha-amino-acid cation that is the conjugate acid of tryptophan, arising from protonation of the alpha-amino group. hp.json tryptophan cation|tryptophanium|Htrp(+)|1-carboxy-2-(1H-indol-3-yl)ethanaminium http://purl.obolibrary.org/obo/CHEBI_32728 3_STAR HP:0025035 biolink:PhenotypicFeature Abnormal proerythroblast morphology Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. hp.json http://purl.obolibrary.org/obo/HP_0025035 UBERON:0005375 biolink:AnatomicalEntity spinal cord ventral column The area of white matter of the spinal cord located on either side of the ventral (anterior) medial fissure. EV:0100326|MA:0002751|VHOG:0001622 hp.json spinal cord anterior column|ventral column|anterior column http://purl.obolibrary.org/obo/UBERON_0005375 pheno_slim HP:0001069 biolink:PhenotypicFeature Episodic hyperhidrosis Intermittent episodes of abnormally increased perspiration. UMLS:C1857171 hp.json Sporadic excessive sweating|Hyperhidrosis, episodic http://purl.obolibrary.org/obo/HP_0001069 HP:0025037 biolink:PhenotypicFeature Hypothalamic gliosis Focal proliferation of glial cells in the hypothalamus. hp.json http://purl.obolibrary.org/obo/HP_0025037 UBERON:0005373 biolink:AnatomicalEntity spinal cord dorsal column The wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception. NCIT:C33355|MBA:514|VHOG:0001623|BAMS:dc|MA:0002749|UMLS:C0458459|EV:0100317 hp.json dorsal columns|dorsal column of spinal cord|dorsal column system|posterior column|spinal cord posterior column|dorsal column http://purl.obolibrary.org/obo/UBERON_0005373 pheno_slim HP:0001067 biolink:PhenotypicFeature Neurofibromas The presence of multiple cutaneous neurofibromas. MSH:D017253|NCIT:C3272|UMLS:C0162678|SNOMEDCT_US:19133005|SNOMEDCT_US:81669005 hp.json Neurofibromata|Neurofibromatosis|multiple neurofibromas http://purl.obolibrary.org/obo/HP_0001067 HP:0025038 biolink:PhenotypicFeature Intratesticular abscess A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. hp.json Testicular abscess http://purl.obolibrary.org/obo/HP_0025038 CHEBI:78121 biolink:ChemicalSubstance fatty acid anion 14:0 Any saturated fatty acid anion containing 14 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. hp.json fatty acid 14:0 http://purl.obolibrary.org/obo/CHEBI_78121 3_STAR HP:0025039 biolink:PhenotypicFeature Basal ganglia edema Swelling within the basal ganglia due to the accumulation of fluid. hp.json Edema of the basal ganglia|Oedema of the basal ganglia|Basal ganglia oedema http://purl.obolibrary.org/obo/HP_0025039 CHEBI:78125 biolink:ChemicalSubstance fatty acid anion 18:0 Any saturated fatty acid anion containing 18 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. hp.json fatty acid 18:0 http://purl.obolibrary.org/obo/CHEBI_78125 3_STAR HP:0001060 biolink:PhenotypicFeature Axillary pterygium Presence of a cutaneous membrane (flap) in the armpit. UMLS:C1844738 hp.json Axillary pterygia http://purl.obolibrary.org/obo/HP_0001060 CHEBI:17126 biolink:ChemicalSubstance carnitine An amino-acid betaine that is butanoate substituted with a hydroxy group at position C-3 and a trimethylammonium group at C-4. Patent:US4315944|Reaxys:1866665|Beilstein:1866665|PMID:23868375|KEGG:C00487|PMID:22770225|CAS:461-06-3|DrugBank:DB02648|Patent:US4255449|Wikipedia:Carnitine|MetaCyc:DL-CARNITINE hp.json D,L-carnitine|carnitine|3-hydroxy-4-(trimethylammonio)butanoate http://purl.obolibrary.org/obo/CHEBI_17126 3_STAR HP:0001061 biolink:PhenotypicFeature Acne A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). UMLS:C0702166|SNOMEDCT_US:11381005|MEDDRA:10000496 hp.json Acne|Breaking out http://purl.obolibrary.org/obo/HP_0001061 hposlim_core CHEBI:78123 biolink:ChemicalSubstance fatty acid anion 16:0 Any saturated fatty acid anion containing 16 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. hp.json fatty acid 16:0 http://purl.obolibrary.org/obo/CHEBI_78123 3_STAR HP:0025030 biolink:PhenotypicFeature Enteric neuronal degeneration Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons. hp.json Degenerative enteric neuropathy http://purl.obolibrary.org/obo/HP_0025030 HP:0025031 biolink:PhenotypicFeature Abnormality of the digestive system hp.json http://purl.obolibrary.org/obo/HP_0025031 HP:0001065 biolink:PhenotypicFeature Striae distensae Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. SNOMEDCT_US:201067006|UMLS:C0152459|MEDDRA:10040925|SNOMEDCT_US:201066002|MSH:D057896|SNOMEDCT_US:47212006 hp.json Purplish striae|Stretch marks|Striae cutis distensae|Striae|Striae atrophicae http://purl.obolibrary.org/obo/HP_0001065 hposlim_core HP:0025032 biolink:PhenotypicFeature Abnormality of digestive system physiology A functional anomaly of the digestive system. hp.json http://purl.obolibrary.org/obo/HP_0025032 HP:0025033 biolink:PhenotypicFeature Abnormality of digestive system morphology A structural anomaly of the digestive system. hp.json http://purl.obolibrary.org/obo/HP_0025033 HP:0001062 biolink:PhenotypicFeature Atypical nevus A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. MSH:D004416|UMLS:C0205748|SNOMEDCT_US:254818000|SNOMEDCT_US:61814002 hp.json Atypical mole|Dysplastic Nevus http://purl.obolibrary.org/obo/HP_0001062 CHEBI:17120 biolink:ChemicalSubstance hexanoate A short-chain fatty acid anion that is the conjugate base of hexanoic acid (also known as caproic acid). Beilstein:3601453|Gmelin:326340|KEGG:C01585|CAS:151-33-7|ECMDB:ECMDB21229|MetaCyc:HEXANOATE hp.json hexanoate|pentylformate|n-hexoate|1-hexanoate|1-pentacarboxylate|hexoate|nPnCO2 anion|hexanoate|butylacetate|n-hexanoate|pentanecarboxylate|CH3-[CH2]4-COO(-)|1-pentanecarboxylate|hexylate|caproate|n-hexylate|capronate|n-caproate http://purl.obolibrary.org/obo/CHEBI_17120 3_STAR HP:0025034 biolink:PhenotypicFeature Abnormal morphology of erythroid progenitor cell Abnormal form of the progenitor cells committed to the erythroid lineage. hp.json http://purl.obolibrary.org/obo/HP_0025034 HP:0001063 biolink:PhenotypicFeature Acrocyanosis Bluish discoloration of the skin of the hands or feet. UMLS:C0221347|SNOMEDCT_US:25003006 hp.json Persistent blue colour of hands or feet|Persistent blue color of hands or feet http://purl.obolibrary.org/obo/HP_0001063 HP:0025024 biolink:PhenotypicFeature Megarectum An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. hp.json http://purl.obolibrary.org/obo/HP_0025024 HP:0025025 biolink:PhenotypicFeature Rectovestibular fistula A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. hp.json Vestibular fistula http://purl.obolibrary.org/obo/HP_0025025 HP:0025026 biolink:PhenotypicFeature H-type rectovestibular fistula Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. hp.json http://purl.obolibrary.org/obo/HP_0025026 UBERON:0005363 biolink:AnatomicalEntity inferior vagus X ganglion The large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve). EFO:0002516|EMAPA:17155|FMA:6230|EHDAA2:0004622|VHOG:0000685|MA:0001082|MESH:D009620 hp.json ganglion inferius nervi vagi|vagus nerve nodose ganglion|vagus nerve inferior ganglion|ganglion inferius (nervus vagus)|vagus X inferior ganglion|ganglion inferius nervus vagi|tenth cranial nerve nodose ganglion|inferior vagus X|nodose ganglion|inferior ganglion of vagus|inferior vagus ganglion|ganglion nodosum|inferior ganglion of vagus nerve|nodose ganglia http://purl.obolibrary.org/obo/UBERON_0005363 pheno_slim|efo_slim UBERON:0005362 biolink:AnatomicalEntity vagus X ganglion The group of sensory neuron cell bodies associated with the vagus nerve. SCTID:244452001|Wikipedia:Vagus_ganglion|ZFA:0007067|TAO:0007067|MA:0001081|VHOG:0000684|EMAPA:16798|FMA:53472 hp.json right glossopharyngeal ganglion|vagus X|ganglion of vagus nerve|vagus neural ganglion|vagus ganglion|vagal ganglion|gX http://purl.obolibrary.org/obo/UBERON_0005362 pheno_slim HP:0025027 biolink:PhenotypicFeature Osteoma cutis The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin. hp.json Osteomatosis|Miliary osteoma|Cutaneous osteosis http://purl.obolibrary.org/obo/HP_0025027 HP:0025028 biolink:PhenotypicFeature Abnormality of enteric nervous system morphology A structural anomaly of nerves of the enteric nervous system. hp.json http://purl.obolibrary.org/obo/HP_0025028 HP:0025029 biolink:PhenotypicFeature Abnormality of enteric neuron morphology hp.json http://purl.obolibrary.org/obo/HP_0025029 HP:0001071 biolink:PhenotypicFeature Angiokeratoma corporis diffusum MSH:D000795|SNOMEDCT_US:124464003|UMLS:C0002986|SNOMEDCT_US:16652001 hp.json Fabry syndrome http://purl.obolibrary.org/obo/HP_0001071 HP:0001072 biolink:PhenotypicFeature Thickened skin Laminar thickening of skin. MEDDRA:10040936|UMLS:C0334008|SNOMEDCT_US:69943009|SNOMEDCT_US:17417006|UMLS:C4020878 hp.json Thickened skin|Diffusely thickened skin|Pachydermia|Thick skin http://purl.obolibrary.org/obo/HP_0001072 hposlim_core CHEBI:17113 biolink:ChemicalSubstance erythritol The meso-diastereomer of butane-1,2,3,4-tetrol. PMID:17979222|Reaxys:1735878|HMDB:HMDB0002994|PMID:25108762|CAS:149-32-6|PMID:19632091|PMID:24643482|KEGG:C00503|PMID:18369603|PMID:9862657|CAS:149-32-6|PMID:163226|CAS:149-32-6|PMID:17336832|Gmelin:82499|PMID:22770225|PMID:23574577|PMID:12639570|PMID:23890177|Beilstein:1719753|PDBeChem:MRY|PMID:16901854|DrugBank:DB04481|Wikipedia:Erythritol|KNApSAcK:C00001161|MetaCyc:ERYTHRITOL|PMID:23421980 hp.json mesoerythritol|(2R,3S)-butane-1,2,3,4-tetrol|Phycitol|erythritol|Erythrite|Phycite|L-erythritol|erythro-tetritol|MESO-ERYTHRITOL|Erythritol|Erythrol|Erythrit|meso-erythritol http://purl.obolibrary.org/obo/CHEBI_17113 3_STAR HP:0001070 biolink:PhenotypicFeature Mottled pigmentation Patchy and irregular skin pigmentation. UMLS:C0860439|UMLS:C4020879 hp.json Mottled skin coloring|Stippled pigmentation|Mottled skin colouring http://purl.obolibrary.org/obo/HP_0001070 HP:0025020 biolink:PhenotypicFeature Elevated prostate-specific antigen level An increased concentration of prostate specific antigen (PSA) in the circulation. hp.json http://purl.obolibrary.org/obo/HP_0025020 HP:0001075 biolink:PhenotypicFeature Atrophic scars Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. UMLS:C0162154|SNOMEDCT_US:409766009|SNOMEDCT_US:239172000 hp.json Sunken or indented skin due to damage|Thin, atrophic scars http://purl.obolibrary.org/obo/HP_0001075 hposlim_core HP:0025021 biolink:PhenotypicFeature Abnormal erythrocyte sedimentation rate A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. hp.json Abnormal Westergren sedimentation rate|Abnormal ESR http://purl.obolibrary.org/obo/HP_0025021 HP:0001076 biolink:PhenotypicFeature Glabellar hemangioma UMLS:C1854408 hp.json Glabellar capillary hemangioma http://purl.obolibrary.org/obo/HP_0001076 HP:0001073 biolink:PhenotypicFeature Cigarette-paper scars Thin (atrophic) and wide scars. UMLS:C1851828 hp.json Cigarette paper scarring|Cigarette-paper scars http://purl.obolibrary.org/obo/HP_0001073 hposlim_core HP:0025022 biolink:PhenotypicFeature Decreased erythrocyte sedimentation rate A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. hp.json Low ESR|Decreased ESR http://purl.obolibrary.org/obo/HP_0025022 HP:0025023 biolink:PhenotypicFeature Rectal atresia A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. hp.json Atresia of the rectum http://purl.obolibrary.org/obo/HP_0025023 UBERON:0005366 biolink:AnatomicalEntity olfactory lobe The lobe at the anterior part of each cerebral hemisphere, responsible for olfactory functions. EHDAA:5480|MA:0002413|EHDAA2_RETIRED:0001294|EFO:0000108|NCIT:C33204|UMLS:C0178780|VHOG:0000833|MIAA:0000116|EMAPA:17778|BTO:0001362 hp.json http://purl.obolibrary.org/obo/UBERON_0005366 pheno_slim|efo_slim HP:0001074 biolink:PhenotypicFeature Atypical nevi in non-sun exposed areas UMLS:C4021837 hp.json http://purl.obolibrary.org/obo/HP_0001074 GO:0031507 biolink:BiologicalProcess heterochromatin assembly An epigenetic gene silencing mechanism that involves the assembly of chromatin into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation. hp.json establishment of heterochromatin architecture involved in chromatin silencing at pericentric region|heterochromatin formation|heterochromatin assembly involved in chromatin silencing|establishment of heterochromatin architecture|heterochromatin formation involved in chromatin silencing at pericentric region|chromatin-mediated silencing|heterochromatic silencing|establishment of heterochromatic silencing|transcriptional gene silencing|TGS|heterochromatin formation involved in chromatin silencing|heterochromatin assembly involved in chromatin silencing at centromere outer repeat region|chromatin silencing|establishment of heterochromatin architecture involved in chromatin silencing at centromere outer repeat region|heterochromatin maintenance|heterochromatin formation involved in chromatin silencing at centromere outer repeat region|heterochromatin assembly involved in chromatin silencing at pericentric region|establishment of chromatin silencing http://purl.obolibrary.org/obo/GO_0031507 GO:0006549 biolink:BiologicalProcess isoleucine metabolic process The chemical reactions and pathways involving isoleucine, (2R*,3R*)-2-amino-3-methylpentanoic acid. hp.json isoleucine metabolism http://purl.obolibrary.org/obo/GO_0006549 GO:0031503 biolink:BiologicalProcess protein-containing complex localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. hp.json cellular protein complex localization|cellular protein-containing complex localization|protein complex localization|establishment and maintenance of protein complex localization|establishment and maintenance of cellular protein complex localization|cellular protein complex localisation|protein complex localisation http://purl.obolibrary.org/obo/GO_0031503 GO:0006547 biolink:BiologicalProcess histidine metabolic process The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid. Wikipedia:Histidine hp.json histidine metabolism http://purl.obolibrary.org/obo/GO_0006547 GO:0006544 biolink:BiologicalProcess glycine metabolic process The chemical reactions and pathways involving glycine, aminoethanoic acid. hp.json glycine metabolism http://purl.obolibrary.org/obo/GO_0006544 GO:0006541 biolink:BiologicalProcess glutamine metabolic process The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid. hp.json glutamine metabolism http://purl.obolibrary.org/obo/GO_0006541 HP:0003621 biolink:PhenotypicFeature Juvenile onset Onset of signs or symptoms of disease between the age of 5 and 15 years. UMLS:C4025588 hp.json Signs and symptoms begin before 15 years of age http://purl.obolibrary.org/obo/HP_0003621 PATO:0001294 biolink:NamedThing radiation reflective quality hp.json http://purl.obolibrary.org/obo/PATO_0001294 HP:0003623 biolink:PhenotypicFeature Neonatal onset Onset of signs or symptoms of disease within the first 28 days of life. UMLS:C1855106 hp.json Onset in first weeks of life|Onset in neonatal period|Neonatal onset http://purl.obolibrary.org/obo/HP_0003623 PATO:0001297 biolink:NamedThing reflectivity hp.json http://purl.obolibrary.org/obo/PATO_0001297 PATO:0001291 biolink:NamedThing electromagnetic (EM) radiation quality hp.json http://purl.obolibrary.org/obo/PATO_0001291 PATO:0001292 biolink:NamedThing full-spectrum EM radiation quality hp.json http://purl.obolibrary.org/obo/PATO_0001292 GO:0006558 biolink:BiologicalProcess L-phenylalanine metabolic process The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid. hp.json phenylalanine metabolic process|phenylalanine metabolism|L-phenylalanine metabolism http://purl.obolibrary.org/obo/GO_0006558 GO:0006555 biolink:BiologicalProcess methionine metabolic process The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. UM-BBD_pathwayID:met hp.json methionine and threonine metabolism|methionine metabolism|methionine and threonine metabolic process http://purl.obolibrary.org/obo/GO_0006555 GO:0006553 biolink:BiologicalProcess lysine metabolic process The chemical reactions and pathways involving lysine, 2,6-diaminohexanoic acid. Wikipedia:Lysine hp.json lysine metabolism http://purl.obolibrary.org/obo/GO_0006553 HP:0003639 biolink:PhenotypicFeature Elevated urinary epinephrine An increased concentration of adrenaline in the urine. UMLS:C1868393 hp.json Increased urinary epinephrine http://purl.obolibrary.org/obo/HP_0003639 GO:0006551 biolink:BiologicalProcess leucine metabolic process The chemical reactions and pathways involving leucine, 2-amino-4-methylpentanoic acid. hp.json leucine metabolism http://purl.obolibrary.org/obo/GO_0006551 HP:0003637 biolink:PhenotypicFeature Reduced 4-Hydroxyphenylpyruvate dioxygenase level An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. UMLS:C4025587 hp.json Reducted HPPD activity http://purl.obolibrary.org/obo/HP_0003637 HP:0003635 biolink:PhenotypicFeature Loss of subcutaneous adipose tissue in limbs Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. UMLS:C1837764 hp.json Loss of subcutaneous adipose tissue from extremities|Loss of fat tissue below the skin in limbs http://purl.obolibrary.org/obo/HP_0003635 hposlim_core HP:0003634 biolink:PhenotypicFeature Amyoplasia Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. UMLS:C0432185|SNOMEDCT_US:205532005 hp.json Absent muscles since birth|Congenital absence of muscles http://purl.obolibrary.org/obo/HP_0003634 BSPO:0001101 biolink:NamedThing in deep part of X superficial part of Y <=> if Y is subdivided into two superficial and deep portions, X is part of the deep portion. BSPO:0001101 hp.json http://purl.obolibrary.org/obo/BSPO_0001101 BSPO:0001106 biolink:NamedThing proximalmost part of X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y BSPO:0001106 hp.json http://purl.obolibrary.org/obo/BSPO_0001106 GO:0006525 biolink:BiologicalProcess arginine metabolic process The chemical reactions and pathways involving arginine, 2-amino-5-(carbamimidamido)pentanoic acid. Wikipedia:Arginine hp.json arginine metabolism http://purl.obolibrary.org/obo/GO_0006525 GO:0006520 biolink:BiologicalProcess cellular amino acid metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. hp.json cellular amino acid and derivative metabolic process|amino acid and derivative metabolism|cellular amino acid metabolism|amino acid metabolic process http://purl.obolibrary.org/obo/GO_0006520 goslim_yeast|goslim_generic|prokaryote_subset|goslim_pombe|goslim_pir|goslim_drosophila|goslim_chembl|goslim_aspergillus HP:0003607 biolink:PhenotypicFeature 4-hydroxyphenylacetic aciduria Increased concentration of 4-hydroxyphenylacetic acid in the urine. UMLS:C1848680|MSH:C535315 hp.json Elevated urine 4-hydroxyphenylacetic acid level http://purl.obolibrary.org/obo/HP_0003607 GO:0006521 biolink:BiologicalProcess regulation of cellular amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids. hp.json regulation of amino acid metabolism http://purl.obolibrary.org/obo/GO_0006521 HP:0003606 biolink:PhenotypicFeature Absent urinary urothione Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. UMLS:C4025591 hp.json http://purl.obolibrary.org/obo/HP_0003606 BSPO:0001107 biolink:NamedThing immediately deep to This relation holds when both the deep_to and ajdacent_to relationship similarly hold. BSPO:0001107 hp.json http://purl.obolibrary.org/obo/BSPO_0001107 BSPO:0001108 biolink:NamedThing distalmost part of X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y BSPO:0001108 hp.json http://purl.obolibrary.org/obo/BSPO_0001108 HP:0003609 biolink:PhenotypicFeature Foam cells with lamellar inclusion bodies The presence of foam cells that contain lamellar inclusion bodies. UMLS:C4025590 hp.json http://purl.obolibrary.org/obo/HP_0003609 UBERON:0007914 biolink:AnatomicalEntity bone of craniocervical region A bone that is part of a craniocervical region. MA:0000569|EMAPA:37245 hp.json head or neck bone|cranial bone http://purl.obolibrary.org/obo/UBERON_0007914 BSPO:0001113 biolink:NamedThing preaxialmost part of BSPO:0001113 hp.json http://purl.obolibrary.org/obo/BSPO_0001113 GO:0006537 biolink:BiologicalProcess glutamate biosynthetic process The chemical reactions and pathways resulting in the formation of glutamate, the anion of 2-aminopentanedioic acid. hp.json glutamate biosynthesis, using glutamate synthase (NADPH)|glutamate biosynthetic process, using glutamate synthase (NADPH)|glutamate anabolism|glutamate biosynthesis|glutamic acid biosynthetic process|glutamic acid biosynthesis|glutamate biosynthesis, using glutamate dehydrogenase (NAD(P)+)|glutamate synthesis|glutamate biosynthetic process, using glutamate dehydrogenase (NAD(P)+)|glutamate formation http://purl.obolibrary.org/obo/GO_0006537 GO:0006536 biolink:BiologicalProcess glutamate metabolic process The chemical reactions and pathways involving glutamate, the anion of 2-aminopentanedioic acid. Wikipedia:Glutamic_acid hp.json glutamate metabolism|glutamic acid metabolism|glutamic acid metabolic process http://purl.obolibrary.org/obo/GO_0006536 GO:0006534 biolink:BiologicalProcess cysteine metabolic process The chemical reactions and pathways involving cysteine, 2-amino-3-mercaptopropanoic acid. Wikipedia:Cysteine_metabolism hp.json cysteine metabolism http://purl.obolibrary.org/obo/GO_0006534 BSPO:0001115 biolink:NamedThing postaxialmost part of BSPO:0001115 hp.json http://purl.obolibrary.org/obo/BSPO_0001115 HP:0003616 biolink:PhenotypicFeature Premature separation of centromeric heterochromatin UMLS:C1849316 hp.json http://purl.obolibrary.org/obo/HP_0003616 HP:0003610 biolink:PhenotypicFeature Fibroblast metachromasia Increased cytoplasmic staining of fibroblasts with toluidine blue. UMLS:C1835008 hp.json http://purl.obolibrary.org/obo/HP_0003610 HP:0003614 biolink:PhenotypicFeature Trimethylaminuria Increased concentration of trimethylamine in the urine. SNOMEDCT_US:237959005|UMLS:C0342739|MSH:C536561 hp.json High urine trimethylamine levels http://purl.obolibrary.org/obo/HP_0003614 HP:0003613 biolink:PhenotypicFeature Antiphospholipid antibody positivity The presence of circulating autoantibodies to phospholipids. UMLS:C4019436 hp.json Phospholipid antibody positivity|Antiphospholipid antibody|Antiphospholipid antibodies http://purl.obolibrary.org/obo/HP_0003613 HP:0003612 biolink:PhenotypicFeature Positive ferric chloride test If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. UMLS:C4025589 hp.json Positive FeCl3 test http://purl.obolibrary.org/obo/HP_0003612 IAO:0000700 biolink:NamedThing has ontology root term IAO:0000700 hp.json http://purl.obolibrary.org/obo/IAO_0000700 UBERON:0005309 biolink:AnatomicalEntity pronephric nephron A pronephric nephron is the functional unit of the pronephros[GO]. AAO:0011091|XAO:0000285 hp.json http://purl.obolibrary.org/obo/UBERON_0005309 OBO:GOREL_0002003 biolink:NamedThing results_in_distribution_of GOREL:0002003 hp.json http://purl.obolibrary.org/obo/GOREL_0002003 HP:0001008 biolink:PhenotypicFeature Accumulation of melanosomes in melanocytes UMLS:C1843389 hp.json http://purl.obolibrary.org/obo/HP_0001008 HP:0001009 biolink:PhenotypicFeature Telangiectasia Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. SNOMEDCT_US:112641009|SNOMEDCT_US:247479008|MSH:D013684|UMLS:C0039446|UMLS:C1138421 hp.json Cutaneous telangiectasia|Telangiectases|Spider veins http://purl.obolibrary.org/obo/HP_0001009 OBO:GOREL_0002004 biolink:NamedThing results_in_fission_of GOREL:0002004 hp.json http://purl.obolibrary.org/obo/GOREL_0002004 UBERON:0005310 biolink:AnatomicalEntity pronephric nephron tubule The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. ZFA:0001558|TAO:0001558|XAO:0004105 hp.json ciliated neck segment|pronephric tubule http://purl.obolibrary.org/obo/UBERON_0005310 HP:0001002 biolink:PhenotypicFeature obsolete Decreased subcutaneous fat hp.json http://purl.obolibrary.org/obo/HP_0001002 HP:0003665 biolink:PhenotypicFeature Amyotrophy of the musculature of the pelvis Muscular atrophy affecting the muscles of the pelvis. UMLS:C4025581 hp.json http://purl.obolibrary.org/obo/HP_0003665 HP:0001003 biolink:PhenotypicFeature Multiple lentigines Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. UMLS:C1328931|UMLS:C0036651|SNOMEDCT_US:72100002 hp.json Liver spots http://purl.obolibrary.org/obo/HP_0001003 hposlim_core HP:0001000 biolink:PhenotypicFeature Abnormality of skin pigmentation An abnormality of the pigmentation of the skin. UMLS:C1260926 hp.json Abnormal skin color|Abnormality of pigmentation|Pigmentary skin changes|Abnormal skin colour|Abnormal pigmentation|Abnormal skin pigmentation|Pigmentary changes|Abnormality of skin pigmentation|Pigmentation anomaly http://purl.obolibrary.org/obo/HP_0001000 hposlim_core HP:0001001 biolink:PhenotypicFeature Abnormality of subcutaneous fat tissue UMLS:C4025813 hp.json Abnormality of fatty tissue below the skin http://purl.obolibrary.org/obo/HP_0001001 HP:0001006 biolink:PhenotypicFeature obsolete Hypotrichosis hp.json http://purl.obolibrary.org/obo/HP_0001006 HP:0001007 biolink:PhenotypicFeature Hirsutism Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). MSH:D006628|UMLS:C0019572|SNOMEDCT_US:399939002 hp.json Excessive hairiness http://purl.obolibrary.org/obo/HP_0001007 HP:0001004 biolink:PhenotypicFeature Lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system. SNOMEDCT_US:30213001|SNOMEDCT_US:234097001|MSH:D008209|UMLS:C0240278|UMLS:C0024236|UMLS:C1835229 hp.json Onset of lymphedema around puberty|Lymphatic obstruction|Swelling caused by excess lymph fluid under skin|Lymphoedema http://purl.obolibrary.org/obo/HP_0001004 HP:0001005 biolink:PhenotypicFeature Dermatological manifestations of systemic disorders UMLS:C4025812 hp.json http://purl.obolibrary.org/obo/HP_0001005 secondary_consequence UBERON:0005317 biolink:AnatomicalEntity pulmonary artery endothelium An pulmonary artery endothelium is an epithelium that lines the pulmonary artery[GO]. BTO:0000137 hp.json pulmonary artery endothelial tube http://purl.obolibrary.org/obo/UBERON_0005317 human_reference_atlas UBERON:0005316 biolink:AnatomicalEntity endocardial endothelium The endothelial lining of the endocardium. FMA:83596 hp.json endocardium endothelium|endothelium of endocardium http://purl.obolibrary.org/obo/UBERON_0005316 UBERON:0005311 biolink:AnatomicalEntity mammary placode The mammary placode is a transient lens shaped structure that will give rise to the mammary bud proper[GO]. EMAPA:35541 hp.json mammary anlage http://purl.obolibrary.org/obo/UBERON_0005311 GO:0006518 biolink:BiologicalProcess peptide metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. hp.json peptide metabolism http://purl.obolibrary.org/obo/GO_0006518 goslim_pir HP:0001019 biolink:PhenotypicFeature Erythroderma An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. SNOMEDCT_US:396350005|SNOMEDCT_US:400005007|SNOMEDCT_US:200948000|MSH:D003873|SNOMEDCT_US:396349005|SNOMEDCT_US:399992009|UMLS:C0011606 hp.json Generalised erythrodermia|Generalized erythroderma|Exfoliative dermititis|Generalized erythrodermia|Generalised erythroderma|Red scaly skin caused by inflammatory skin disease http://purl.obolibrary.org/obo/HP_0001019 HP:0001013 biolink:PhenotypicFeature Eruptive xanthomas Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. SNOMEDCT_US:238952003|UMLS:C0221252 hp.json http://purl.obolibrary.org/obo/HP_0001013 HP:0003676 biolink:PhenotypicFeature Progressive Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. SNOMEDCT_US:252157006|UMLS:C0205329|UMLS:C1864985|SNOMEDCT_US:255314001 hp.json Worsens with time|Progressive disorder http://purl.obolibrary.org/obo/HP_0003676 HP:0001014 biolink:PhenotypicFeature Angiokeratoma A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot. MSH:D000794|UMLS:C0002985|SNOMEDCT_US:26810009 hp.json Angiokeratomas http://purl.obolibrary.org/obo/HP_0001014 HP:0003674 biolink:PhenotypicFeature Onset The age group in which disease manifestations appear. UMLS:C0206132|MSH:D017668 hp.json Age symptoms begin|Age of onset http://purl.obolibrary.org/obo/HP_0003674 HP:0001011 biolink:PhenotypicFeature obsolete Diaphoresis (with pheochromocytoma) hp.json http://purl.obolibrary.org/obo/HP_0001011 HP:0001012 biolink:PhenotypicFeature Multiple lipomas The presence of multiple lipomas (a type of benign tissue made of fatty tissue). UMLS:C0023798|SNOMEDCT_US:404062002|SNOMEDCT_US:46720004|MSH:D008067|UMLS:C0745730|SNOMEDCT_US:93163002|NCIT:C3192 hp.json Lipomas|Lipomatosis|Multiple fatty lumps http://purl.obolibrary.org/obo/HP_0001012 HP:0001017 biolink:PhenotypicFeature Anemic pallor A type of pallor that is secondary to the presence of anemia. UMLS:C4025811 hp.json Anaemic pallor http://purl.obolibrary.org/obo/HP_0001017 HP:0001018 biolink:PhenotypicFeature Abnormal palmar dermatoglyphics An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. UMLS:C4025810 hp.json http://purl.obolibrary.org/obo/HP_0001018 HP:0003679 biolink:PhenotypicFeature Pace of progression UMLS:C4025580 hp.json http://purl.obolibrary.org/obo/HP_0003679 HP:0003678 biolink:PhenotypicFeature Rapidly progressive Applies to a disease manifestation that quickly increases in scope or severity over the course of time. UMLS:C1850776|UMLS:C1838681 hp.json Rapidly progressive disorder|Rapid progression|Worsening quickly http://purl.obolibrary.org/obo/HP_0003678 HP:0001015 biolink:PhenotypicFeature Prominent superficial veins A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal. UMLS:C1837785 hp.json Prominent veins|Marked subcutaneous veins http://purl.obolibrary.org/obo/HP_0001015 HP:0003677 biolink:PhenotypicFeature Slowly progressive Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. UMLS:C1854494 hp.json Signs and symptoms worsen slowly with time|Slow progression|Slow disease progression|Slowly progressive disorder http://purl.obolibrary.org/obo/HP_0003677 HP:0001010 biolink:PhenotypicFeature Hypopigmentation of the skin A reduction of skin color related to a decrease in melanin production and deposition. SNOMEDCT_US:18655006|SNOMEDCT_US:89031001|MSH:D017496|UMLS:C0162835|SNOMEDCT_US:201284005|SNOMEDCT_US:23006000 hp.json Hypopigmentation|Skin hypopigmentation|Patchy lightened skin|Hypopigmented skin http://purl.obolibrary.org/obo/HP_0001010 HP:0003649 biolink:PhenotypicFeature Abnormality of glycoside metabolism Abnormality of glycoside metabolism. UMLS:C4025584 hp.json http://purl.obolibrary.org/obo/HP_0003649 HP:0003648 biolink:PhenotypicFeature Lacticaciduria An increased concentration of lactic acid in the urine. UMLS:C4025585 hp.json High urine lactic acid levels|Increased urine lactate http://purl.obolibrary.org/obo/HP_0003648 HP:0003643 biolink:PhenotypicFeature Sulfite oxidase deficiency Abnormally reduced sulfite oxidase level. SNOMEDCT_US:367368009|MSH:C538141|UMLS:C0268624 hp.json http://purl.obolibrary.org/obo/HP_0003643 HP:0003642 biolink:PhenotypicFeature Type I transferrin isoform profile Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. UMLS:C1837899 hp.json Abnormal isoelectric focusing of serum transferrin, type I pattern|Type 1 transferrin isoform profile|Isoelectric focusing of serum transferrin consistent with CDG type I http://purl.obolibrary.org/obo/HP_0003642 HP:0003641 biolink:PhenotypicFeature Hemoglobinuria The presence of free hemoglobin in the urine. MSH:D006456|SNOMEDCT_US:68600005|UMLS:C0019048 hp.json Haemoglobin in urine|Hemoglobin in urine http://purl.obolibrary.org/obo/HP_0003641 HP:0003640 biolink:PhenotypicFeature CNS foam cells The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system. UMLS:C1843373 hp.json http://purl.obolibrary.org/obo/HP_0003640 HP:0003647 biolink:PhenotypicFeature Electron transfer flavoprotein-ubiquinone oxidoreductase defect A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase. UMLS:C4025586 hp.json http://purl.obolibrary.org/obo/HP_0003647 HP:0003646 biolink:PhenotypicFeature Bicarbonaturia Abnormally increased concentration of hydrogencarbonate in the urine. UMLS:C1839865 hp.json Increased urine bicarbonate concentration|Increased urine HCO3 concentration http://purl.obolibrary.org/obo/HP_0003646 HP:0003645 biolink:PhenotypicFeature Prolonged partial thromboplastin time Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. UMLS:C0240671|SNOMEDCT_US:409675001 hp.json Prolonged activated partial thromboplastin time|Abnormal partial thromboplastin time|Partial thromboplastin time prolonged|Prolonged PTT|Delayed thromboplastin generation http://purl.obolibrary.org/obo/HP_0003645 UBERON:8440004 biolink:AnatomicalEntity laminar subdivision of the cortex One or a subset of adjacent layers of the neocortex. hp.json http://purl.obolibrary.org/obo/UBERON_8440004 HP:0003654 biolink:PhenotypicFeature Reduced dihydropyrimidine dehydrogenase level An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level. UMLS:C1959620|MSH:D054067|SNOMEDCT_US:77365006|UMLS:C4025582 hp.json Dihydropyrimidine dehydrogenase deficiency http://purl.obolibrary.org/obo/HP_0003654 HP:0003653 biolink:PhenotypicFeature Cellular metachromasia Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. UMLS:C4025583 hp.json http://purl.obolibrary.org/obo/HP_0003653 HP:0003652 biolink:PhenotypicFeature Recurrent myoglobinuria Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. MSH:C564018|UMLS:C1838877 hp.json Myoglobinuria, episodic|Myoglobinuria, recurrent http://purl.obolibrary.org/obo/HP_0003652 HP:0003651 biolink:PhenotypicFeature Foam cells The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. UMLS:C0016390|SNOMEDCT_US:16980002|MSH:D005487 hp.json Lipid-laden histiocytes|Foamy macrophages|Presence of foam cells|Foamy histiocytes http://purl.obolibrary.org/obo/HP_0003651 HP:0003658 biolink:PhenotypicFeature Hypomethioninemia A decreased concentration of methionine in the blood. UMLS:C1848555 hp.json Decreased plasma methionine|Decreased serum methionine http://purl.obolibrary.org/obo/HP_0003658 HP:0003657 biolink:PhenotypicFeature Granular osmiophilic deposits (GROD) in cells UMLS:C1859833 hp.json http://purl.obolibrary.org/obo/HP_0003657 HP:0003656 biolink:PhenotypicFeature Decreased beta-glucocerebrosidase level Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose. UMLS:C1842710 hp.json Decreased lysosomal acid glucosylceramidase activity http://purl.obolibrary.org/obo/HP_0003656 HP:0003655 biolink:PhenotypicFeature Reduced level of N-acetylglucosaminyltransferase II An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. UMLS:C4021725 hp.json Deficient N-acetylglucosaminyltransferase II http://purl.obolibrary.org/obo/HP_0003655 CHEBI:17196 biolink:ChemicalSubstance L-asparagine An optically active form of asparagine having L-configuration. MetaCyc:ASN|Reaxys:1723527|Beilstein:1723527|HMDB:HMDB0000168|CAS:70-47-3|Gmelin:3334|PMID:16368161|PMID:22513289|CAS:70-47-3|PMID:21854356|PMID:21800258|PDBeChem:ASN|PMID:12142634|FooDB:FDB000787|ECMDB:ECMDB00168|DrugBank:DB00174|PMID:16190636|Drug_Central:4126|KNApSAcK:C00001341|PMID:17497286|Wikipedia:Asparagine|PMID:16668324|PMID:15907185|YMDB:YMDB00226|CAS:70-47-3|KEGG:C00152 hp.json (S)-Asparagine|L-aspartic acid beta-amide|2-Aminosuccinamic acid|Asn|L-2-aminosuccinamic acid|ASPARAGINE|Aspartamic acid|L-asparagine|(2S)-2-amino-3-carbamoylpropanoic acid|(2S)-2,4-diamino-4-oxobutanoic acid|(S)-2-amino-3-carbamoylpropanoic acid|L-Asparagin|L-Asparagine|N|alpha-aminosuccinamic acid http://purl.obolibrary.org/obo/CHEBI_17196 3_STAR GO:0016070 biolink:BiologicalProcess RNA metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. hp.json RNA metabolism http://purl.obolibrary.org/obo/GO_0016070 goslim_agr|goslim_candida|goslim_pir|goslim_aspergillus|goslim_metagenomics GO:0065002 biolink:BiologicalProcess intracellular protein transmembrane transport The directed movement of proteins in a cell, from one side of a membrane to another by means of some agent such as a transporter or pore. hp.json intracellular protein transport across a membrane|intracellular membrane translocation of a protein|intracellular protein membrane transport http://purl.obolibrary.org/obo/GO_0065002 GO:0065003 biolink:BiologicalProcess protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. hp.json macromolecular complex assembly|cellular protein complex assembly|chaperone activity|cellular macromolecule complex assembly|cellular protein-containing complex assembly|protein complex formation|macromolecule complex assembly|protein complex assembly http://purl.obolibrary.org/obo/GO_0065003 goslim_pir|goslim_pombe|goslim_drosophila|goslim_chembl|goslim_metagenomics|goslim_generic GO:0065008 biolink:BiologicalProcess regulation of biological quality Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. hp.json regulation of biological attribute|regulation of biological characteristic http://purl.obolibrary.org/obo/GO_0065008 goslim_pir GO:0065009 biolink:BiologicalProcess regulation of molecular function Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. hp.json regulation of a molecular function http://purl.obolibrary.org/obo/GO_0065009 gocheck_do_not_annotate|goslim_pir|goslim_plant GO:0065007 biolink:BiologicalProcess biological regulation Any process that modulates a measurable attribute of any biological process, quality or function. hp.json regulation http://purl.obolibrary.org/obo/GO_0065007 gocheck_do_not_annotate|goslim_pir GO:0004095 biolink:MolecularActivity carnitine O-palmitoyltransferase activity Catalysis of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. Reactome:R-HSA-200410|RHEA:12661|Reactome:R-HSA-200406|MetaCyc:CARNITINE-O-PALMITOYLTRANSFERASE-RXN|EC:2.3.1.21 hp.json CPTi|acylcarnitine transferase activity|carnitine palmitoyltransferase I|palmitoylcarnitine transferase activity|CPT I (outer membrane carnitine palmitoyl transferase)|CPT-B|carnitine palmitoyltransferase-A|CPT-A|palmitoyl-CoA:L-carnitine O-palmitoyltransferase activity|CPTo|carnitine palmitoyltransferase II|CPT|carnitine palmitoyltransferase activity|L-carnitine palmitoyltransferase activity|outer malonyl-CoA inhibitable carnitine palmitoyltransferase activity http://purl.obolibrary.org/obo/GO_0004095 GO:0016050 biolink:BiologicalProcess vesicle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. hp.json vesicle organisation|vesicle organization and biogenesis http://purl.obolibrary.org/obo/GO_0016050 goslim_yeast|goslim_pir PATO:0001236 biolink:NamedThing process quality A quality which inheres in an process. hp.json quality of a process|quality of process|relational quality of occurrent|quality of occurrent http://purl.obolibrary.org/obo/PATO_0001236 PATO:0001230 biolink:NamedThing strength A quality inhering in a bearer by virtue of the bearer's power or force. hp.json http://purl.obolibrary.org/obo/PATO_0001230 attribute_slim|scalar_slim GO:0016049 biolink:BiologicalProcess cell growth The process in which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present. hp.json non-developmental growth of a unicellular organism|metabolism resulting in cell growth|non-developmental cell growth|growth of cell|metabolic process resulting in cell growth|cellular growth|cell expansion http://purl.obolibrary.org/obo/GO_0016049 gocheck_do_not_annotate|goslim_pir|goslim_plant|goslim_drosophila GO:0016043 biolink:BiologicalProcess cellular component organization A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. hp.json cell organization and biogenesis|cellular component organisation in other organism|cellular component organisation at cellular level|cellular component organization in other organism|cell organisation|cellular component organization at cellular level http://purl.obolibrary.org/obo/GO_0016043 goslim_mouse|goslim_agr|goslim_pir|goslim_plant GO:0065010 biolink:CellularComponent extracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. hp.json extracellular membrane-enclosed organelle http://purl.obolibrary.org/obo/GO_0065010 PATO:0001241 biolink:NamedThing physical object quality A quality which inheres in a continuant. snap:Quality hp.json multiply inhering quality of a physical entity|monadic quality of an object|quality of continuant|quality of a continuant|monadic quality of continuant|quality of a single physical entity|quality of an object|monadic quality of a continuant http://purl.obolibrary.org/obo/PATO_0001241 GO:0016057 biolink:BiologicalProcess regulation of membrane potential in photoreceptor cell Hyperpolarization (vertebrates) or depolarization (invertebrates) of the photoreceptor cell membrane via closing/opening of cation specific channels as a result of signals generated by rhodopsin activation by a photon. hp.json changes in polarization state of photoreceptor cell membrane http://purl.obolibrary.org/obo/GO_0016057 GO:0016051 biolink:BiologicalProcess carbohydrate biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. hp.json carbohydrate formation|anabolic carbohydrate metabolic process|anabolic carbohydrate metabolism|carbohydrate anabolism|carbohydrate biosynthesis|carbohydrate synthesis http://purl.obolibrary.org/obo/GO_0016051 GO:0016052 biolink:BiologicalProcess carbohydrate catabolic process The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. hp.json single-organism carbohydrate catabolic process|carbohydrate breakdown|carbohydrate catabolism|multicellular organismal carbohydrate catabolic process|carbohydrate degradation|catabolic carbohydrate metabolic process|catabolic carbohydrate metabolism http://purl.obolibrary.org/obo/GO_0016052 GO:0016053 biolink:BiologicalProcess organic acid biosynthetic process The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage. hp.json organic acid formation|organic acid anabolism|organic acid biosynthesis|organic acid synthesis http://purl.obolibrary.org/obo/GO_0016053 GO:0031667 biolink:BiologicalProcess response to nutrient levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. hp.json http://purl.obolibrary.org/obo/GO_0031667 HP:0003826 biolink:PhenotypicFeature Stillbirth Death of the fetus in utero after at least 22 weeks of gestation. SNOMEDCT_US:237364002|MSH:D005313|UMLS:C0595939|SNOMEDCT_US:276507005|MSH:D050497|UMLS:C0015927 hp.json Foetal death|Stillbirth|Late fetal death|Fetal demise|Stillborn|Fetal death http://purl.obolibrary.org/obo/HP_0003826 HP:0003829 biolink:PhenotypicFeature Typified by incomplete penetrance Description of conditions in which only a limited proportion of individuals with a given genotype exhibit the disease regardless of age. UMLS:C1836598 hp.json Incomplete penetrance|Reduced penetrance http://purl.obolibrary.org/obo/HP_0003829 HP:0003828 biolink:PhenotypicFeature Variable expressivity A variable severity of phenotypic features. UMLS:C1861403|UMLS:C1866862 hp.json Variable severity|Highly variable severity http://purl.obolibrary.org/obo/HP_0003828 GO:0016020 biolink:CellularComponent membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. Wikipedia:Biological_membrane hp.json membrane region|region of membrane|whole membrane http://purl.obolibrary.org/obo/GO_0016020 goslim_pir|goslim_plant|goslim_flybase_ribbon|goslim_aspergillus|goslim_chembl|goslim_metagenomics|goslim_yeast|goslim_candida HP:0003837 biolink:PhenotypicFeature Soft-tissue ossification around the shoulders Formation of calcified tissue in the soft tissues surrounding the shoulder. UMLS:C4025561 hp.json Calcification of the soft-tissue around the shoulders http://purl.obolibrary.org/obo/HP_0003837 HP:0003836 biolink:PhenotypicFeature Stippled calcification of the shoulder UMLS:C4025562 hp.json http://purl.obolibrary.org/obo/HP_0003836 HP:0003835 biolink:PhenotypicFeature Shoulder subluxation A partial dislocation of the shoulder joint. UMLS:C0434744|SNOMEDCT_US:263051004 hp.json Partial shoulder dislocation http://purl.obolibrary.org/obo/HP_0003835 HP:0003839 biolink:PhenotypicFeature Abnormality of upper limb epiphysis morphology UMLS:C4021722 hp.json Abnormal shape of end part of upper limb long bones|Abnormality involving the epiphyses of the upper limbs|Epihyseal plate abnormality of the upper limbs http://purl.obolibrary.org/obo/HP_0003839 RO:0001025 biolink:Protein located_in a relation between two independent continuants, the target and the location, in which the target is entirely within the location RO:0001025 hp.json http://purl.obolibrary.org/obo/RO_0001025 http://purl.obolibrary.org/obo/valid_for_go_gp2term HP:0003834 biolink:PhenotypicFeature Shoulder dislocation A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. MSH:D012783|SNOMEDCT_US:125615005|UMLS:C0037005|SNOMEDCT_US:417076003 hp.json Shoulder dislocation http://purl.obolibrary.org/obo/HP_0003834 HP:0003833 biolink:PhenotypicFeature Laterally deficient tibial plateaux UMLS:C4025563 hp.json http://purl.obolibrary.org/obo/HP_0003833 HP:0003832 biolink:PhenotypicFeature Abnormality of the tibial plateaux UMLS:C4025564 hp.json http://purl.obolibrary.org/obo/HP_0003832 HP:0003831 biolink:PhenotypicFeature Typified by age-related penetrance Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject. UMLS:C1835978 hp.json Age dependent penetrance|Age-dependent penetrance http://purl.obolibrary.org/obo/HP_0003831 HP:0400008 biolink:PhenotypicFeature Menometrorrhagia Prolonged/excessive menses and bleeding at irregular intervals. SNOMEDCT_US:314631008|SNOMEDCT_US:351814001|UMLS:C0232943 hp.json http://purl.obolibrary.org/obo/HP_0400008 HP:0400007 biolink:PhenotypicFeature Polymenorrhea Frequent menses; menstrual cycles lasting less than 21 days. MSH:D008599|UMLS:C0032519|SNOMEDCT_US:52754008 hp.json http://purl.obolibrary.org/obo/HP_0400007 GO:0031645 biolink:BiologicalProcess negative regulation of nervous system process Any process that stops, prevents, or reduces the frequency, rate or extent of a neurophysiological process. hp.json negative regulation of neurological process|negative regulation of neurophysiological process|negative regulation of neurological system process|downregulation of neurological process|down regulation of neurological process|inhibition of neurological process|down-regulation of neurological process http://purl.obolibrary.org/obo/GO_0031645 HP:0400004 biolink:PhenotypicFeature Long ear Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. UMLS:C1848657 hp.json Long ear|Long ears http://purl.obolibrary.org/obo/HP_0400004 GO:0031646 biolink:BiologicalProcess positive regulation of nervous system process Any process that activates or increases the frequency, rate or extent of a neurophysiological process. hp.json positive regulation of neurological system process|up regulation of neurological process|stimulation of neurological process|up-regulation of neurological process|activation of neurological process|positive regulation of neurological process|positive regulation of neurophysiological process|upregulation of neurological process http://purl.obolibrary.org/obo/GO_0031646 HP:0400003 biolink:PhenotypicFeature Focal absence of the external ear Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe). UMLS:C4021874 hp.json http://purl.obolibrary.org/obo/HP_0400003 GO:0031643 biolink:BiologicalProcess positive regulation of myelination Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. hp.json up regulation of myelination|activation of myelination|stimulation of myelination|upregulation of myelination|up-regulation of myelination http://purl.obolibrary.org/obo/GO_0031643 GO:0006687 biolink:BiologicalProcess glycosphingolipid metabolic process The chemical reactions and pathways involving glycosphingolipids, any compound with residues of sphingoid and at least one monosaccharide. hp.json glycosphingolipid metabolism http://purl.obolibrary.org/obo/GO_0006687 CHEBI:42090 biolink:ChemicalSubstance L-threitol The L-enantiomer of threitol. PDBeChem:DTL|DrugBank:DB03278|Beilstein:4652748|Beilstein:1719754|Gmelin:1971390|PMID:7925706|Reaxys:1719754|PMID:16901854|PMID:15639248|Beilstein:5725953|PMID:16671745 hp.json L-threo-tetritol|D-TREITOL|L-threitol|(2S,3S)-butane-1,2,3,4-tetrol http://purl.obolibrary.org/obo/CHEBI_42090 3_STAR HP:0400005 biolink:PhenotypicFeature Short ear Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. UMLS:C3551041 hp.json Short ear|Short ears http://purl.obolibrary.org/obo/HP_0400005 GO:0031644 biolink:BiologicalProcess regulation of nervous system process Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system. hp.json regulation of neurological system process|regulation of neurological process|regulation of neurophysiological process http://purl.obolibrary.org/obo/GO_0031644 HP:0400000 biolink:PhenotypicFeature Tall chin Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. SNOMEDCT_US:471397004|UMLS:C3532221|UMLS:C4021875 hp.json Vertical excess of chin|Long chin|Vertical hyperplasia of chin|Tall chin|Increased height of menton region|Increased height of chin|Long lower third of face http://purl.obolibrary.org/obo/HP_0400000 HP:0003805 biolink:PhenotypicFeature Rimmed vacuoles Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. UMLS:C1853932 hp.json Rimmed vacuoles on biopsy http://purl.obolibrary.org/obo/HP_0003805 HP:0003803 biolink:PhenotypicFeature Type 1 muscle fiber predominance An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). UMLS:C1854387 hp.json Type I muscle fibre predominance|Type 1 muscle fibre predominance|Type I muscle fiber predominance http://purl.obolibrary.org/obo/HP_0003803 HP:0400002 biolink:PhenotypicFeature Extra concha fold Folds or ridges within the concha that are distinct from the crus helix. UMLS:C4020915 hp.json Concha, Extra Fold http://purl.obolibrary.org/obo/HP_0400002 HP:0400001 biolink:PhenotypicFeature Chin with vertical crease Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest. UMLS:C4020916 hp.json Vertical chin skin cleft|Chin with vertical crease|Chin with vertical groove|Chin, vertical crease|Cleft chin|Chin with vertical sulcus|Chin with vertical furrow|Vertical menton crease http://purl.obolibrary.org/obo/HP_0400001 HP:0003809 biolink:PhenotypicFeature Reduced intrathoracic adipose tissue An abnormally reduced amount of adipose tissue in the thoracic cavity. UMLS:C1837797 hp.json http://purl.obolibrary.org/obo/HP_0003809 HP:0003808 biolink:PhenotypicFeature Abnormal muscle tone UMLS:C0852413 hp.json Abnormal muscle tone http://purl.obolibrary.org/obo/HP_0003808 RO:0001018 biolink:NamedThing contained in hp.json http://purl.obolibrary.org/obo/RO_0001018 ro-eco RO:0001019 biolink:NamedThing contains RO:0001019 hp.json http://purl.obolibrary.org/obo/RO_0001019 ro-eco RO:0001015 biolink:NamedThing location of a relation between two independent continuants, the location and the target, in which the target is entirely within the location RO:0001015 hp.json http://purl.obolibrary.org/obo/RO_0001015 HP:0003800 biolink:PhenotypicFeature Muscle abnormality related to mitochondrial dysfunction UMLS:C4025566 hp.json http://purl.obolibrary.org/obo/HP_0003800 GO:0031641 biolink:BiologicalProcess regulation of myelination Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons. hp.json http://purl.obolibrary.org/obo/GO_0031641 GO:0031642 biolink:BiologicalProcess negative regulation of myelination Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. hp.json down-regulation of myelination|down regulation of myelination|inhibition of myelination|downregulation of myelination http://purl.obolibrary.org/obo/GO_0031642 GO:0006699 biolink:NamedThing bile acid biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0006699 GO:0004035 biolink:MolecularActivity alkaline phosphatase activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. MetaCyc:ALKAPHOSPHA-RXN|Reactome:R-HSA-8878787|EC:3.1.3.1 hp.json glycerophosphatase activity|orthophosphoric-monoester phosphohydrolase (alkaline optimum)|alkaline phosphomonoesterase activity|phosphomonoesterase activity|alkaline phosphohydrolase activity|alkaline phenyl phosphatase activity|phosphate-monoester phosphohydrolase (alkaline optimum) http://purl.obolibrary.org/obo/GO_0004035 GO:0006694 biolink:BiologicalProcess steroid biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. Wikipedia:Steroid_metabolisms#Steroid_biosynthesis hp.json steroidogenesis|steroid anabolism|steroid biosynthesis|steroid synthesis|steroid formation http://purl.obolibrary.org/obo/GO_0006694 GO:0006692 biolink:BiologicalProcess prostanoid metabolic process The chemical reactions and pathways involving prostanoids, any compound based on or derived from the prostanoate structure. hp.json prostanoid metabolism http://purl.obolibrary.org/obo/GO_0006692 GO:0006693 biolink:BiologicalProcess prostaglandin metabolic process The chemical reactions and pathways involving prostaglandins, any of a group of biologically active metabolites which contain a cyclopentane ring due to the formation of a bond between two carbons of a fatty acid. They have a wide range of biological activities. hp.json prostaglandin metabolism http://purl.obolibrary.org/obo/GO_0006693 HP:0003819 biolink:PhenotypicFeature Death in childhood Death in during childhood, defined here as between the ages of 2 and 10 years. UMLS:C1843392 hp.json Death in childhood http://purl.obolibrary.org/obo/HP_0003819 GO:0006690 biolink:BiologicalProcess icosanoid metabolic process The chemical reactions and pathways involving icosanoids, any of a group of C20 polyunsaturated fatty acids. hp.json eicosanoid metabolism|eicosanoid metabolic process|icosanoid metabolism http://purl.obolibrary.org/obo/GO_0006690 HP:0003812 biolink:PhenotypicFeature Phenotypic variability A variability of phenotypic features. UMLS:C1839039|UMLS:C1850667|UMLS:C1837514|UMLS:C1866210 hp.json Variable phenotypic severity|Highly variable phenotype and severity|Clinical heterogeneity|Highly variable clinical phenotype|Highly variable phenotype, even within families|Highly variable phenotype|Variable phenotype http://purl.obolibrary.org/obo/HP_0003812 HP:0003811 biolink:PhenotypicFeature Neonatal death Death within the first 28 days of life. SNOMEDCT_US:276506001|MSH:D066087|UMLS:C0410916 hp.json Neonatal lethal http://purl.obolibrary.org/obo/HP_0003811 PATO:0001201 biolink:NamedThing Y-shaped A concave 3-D shape quality inhering in a bearer by virtue of the bearer's being shaped in the form of the letter Y. hp.json http://purl.obolibrary.org/obo/PATO_0001201 value_slim|cell_quality HP:0003810 biolink:PhenotypicFeature Late-onset distal muscle weakness UMLS:C4025565 hp.json http://purl.obolibrary.org/obo/HP_0003810 GO:0043616 biolink:BiologicalProcess keratinocyte proliferation The multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. Keratinocytes are epidermal cells which synthesize keratin and undergo a characteristic change as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. hp.json http://purl.obolibrary.org/obo/GO_0043616 CHEBI:91007 biolink:ChemicalSubstance aromatic carboxylate A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3. hp.json an aromatic carboxylate http://purl.obolibrary.org/obo/CHEBI_91007 3_STAR CL:0019018 biolink:Cell blood vessel smooth muscle cell A smooth muscle cell that is part of any blood vessel. hp.json smooth muscle cell of blood vessel http://purl.obolibrary.org/obo/CL_0019018 HP:0025192 biolink:PhenotypicFeature Subtentorial periventricular white matter hyperdensity Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum). hp.json http://purl.obolibrary.org/obo/HP_0025192 HP:0025193 biolink:PhenotypicFeature Posterolateral diaphragmatic hernia A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity. hp.json Bochdalek hernia http://purl.obolibrary.org/obo/HP_0025193 CHEBI:20702 biolink:ChemicalSubstance 2-aminopurines Any aminopurine having the amino substituent at the 2-position. hp.json 2-aminopurines http://purl.obolibrary.org/obo/CHEBI_20702 3_STAR HP:0025194 biolink:PhenotypicFeature Morgagni diaphragmatic hernia An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity. hp.json Morgagni hernia http://purl.obolibrary.org/obo/HP_0025194 HP:0025195 biolink:PhenotypicFeature Central diaphragmatic hernia A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present. hp.json Central hernia http://purl.obolibrary.org/obo/HP_0025195 HP:0025196 biolink:PhenotypicFeature Increased total iron binding capacity An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. hp.json http://purl.obolibrary.org/obo/HP_0025196 HP:0025197 biolink:PhenotypicFeature Inclusion body fibromatosis A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration. hp.json Infantile digital fibromatosis|Digital fibrous tumor of Reye|Digital fibrous tumour of Reye|Infantile digital fibroma http://purl.obolibrary.org/obo/HP_0025197 HP:0025198 biolink:PhenotypicFeature Inflammatory cap polyp A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp. hp.json http://purl.obolibrary.org/obo/HP_0025198 CHEBI:20706 biolink:ChemicalSubstance 6-aminopurines Any compound having 6-aminopurine (adenine) as part of its structure. PMID:7342604|PMID:1646334|PMID:18524423 hp.json 6-aminopurines http://purl.obolibrary.org/obo/CHEBI_20706 3_STAR CL:0007011 biolink:Cell enteric neuron Neuron that is part of the enteric nervous system. hp.json http://purl.obolibrary.org/obo/CL_0007011 HP:0025190 biolink:PhenotypicFeature Bilateral tonic-clonic seizure with generalized onset A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. hp.json Generalised-onset tonic-clonic seizure|Primary generalised tonic-clonic seizures|Generalized tonic-clonic seizure without focal onset|Generalised tonic-clonic seizures without focal onset|Primary generalized tonic-clonic seizure|Primarily generalised tonic-clonic seizures|Generalized tonic-clonic seizure without partial onset|Generalized-onset tonic-clonic seizure|Primary generalized tonic-clonic seizures|Generalised tonic-clonic seizure without focal onset|Generalized tonic-clonic seizures without focal onset|Primary generalised tonic-clonic seizure|Bilateral tonic-clonic seizure with generalised onset|Primarily generalized tonic-clonic seizures|Generalised tonic-clonic seizure without partial onset http://purl.obolibrary.org/obo/HP_0025190 HP:0025191 biolink:PhenotypicFeature obsolete Segmental myoclonic seizures hp.json http://purl.obolibrary.org/obo/HP_0025191 GO:0043648 biolink:BiologicalProcess dicarboxylic acid metabolic process The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-). hp.json dicarboxylate metabolism|dicarboxylate metabolic process|dicarboxylic acid metabolism http://purl.obolibrary.org/obo/GO_0043648 HP:0025181 biolink:PhenotypicFeature Abdominal aseptic abscess An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. hp.json http://purl.obolibrary.org/obo/HP_0025181 HP:0025182 biolink:PhenotypicFeature Localized area of pendulous skin A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region. hp.json Localised area of pendulous skin http://purl.obolibrary.org/obo/HP_0025182 HP:0025186 biolink:PhenotypicFeature Marcus Gunn jaw winking synkinesis Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. hp.json Marcus Gunn jaw-winking syndrome|Pterygoid-levator synkinesis|Trigemino-oculomotor synkinesis http://purl.obolibrary.org/obo/HP_0025186 HP:0025188 biolink:PhenotypicFeature Retinal vasculitis Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. hp.json http://purl.obolibrary.org/obo/HP_0025188 GO:0043650 biolink:BiologicalProcess dicarboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of dicarboxylic acids, any organic acid containing two carboxyl (-COOH) groups. hp.json dicarboxylic acid anabolism|dicarboxylate biosynthesis|dicarboxylate biosynthetic process|dicarboxylic acid biosynthesis|dicarboxylic acid synthesis|dicarboxylic acid formation http://purl.obolibrary.org/obo/GO_0043650 OBO:uberon/core#in_central_side_of biolink:NamedThing in_central_side_of X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. hp.json http://purl.obolibrary.org/obo/uberon/core#in_central_side_of CL:0007009 biolink:Cell prechondroblast Skeletogenic cell that has the potential to develop into a chondroblast; and arises from neural crest, meseosdermal and notochordal and connective tissue cells. hp.json http://purl.obolibrary.org/obo/CL_0007009 CL:0007001 biolink:Cell skeletogenic cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). hp.json scleroblast http://purl.obolibrary.org/obo/CL_0007001 CL:0007002 biolink:Cell precementoblast Skeletogenic cell that has the potential to develop into a cementoblast. hp.json http://purl.obolibrary.org/obo/CL_0007002 CL:0007003 biolink:Cell preodontoblast Skeletogenic cell that has the potential to form an odontoblast, deposits predentine, and arises from a cranial neural crest cell. hp.json http://purl.obolibrary.org/obo/CL_0007003 CL:0007004 biolink:Cell premigratory neural crest cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. hp.json http://purl.obolibrary.org/obo/CL_0007004 CL:0007000 biolink:Cell preameloblast Skeletogenic cell that has the potential to develop into an ameloblast. Located in the inner enamel epithelium, these cells elongate, their nuclei shift distally (away from the dental papilla), and their cytoplasm becomes filled with organelles needed for synthesis and secretion of enamel proteins. hp.json http://purl.obolibrary.org/obo/CL_0007000 PR:000017364 biolink:Protein von Willebrand factor A protein that is a translation product of the human VWF gene or a 1:1 ortholog thereof. hp.json F8VWF|VWF|vWF http://purl.obolibrary.org/obo/PR_000017364 CHEBI:29016 biolink:ChemicalSubstance arginine An alpha-amino acid that is glycine in which the alpha-is substituted by a 3-guanidinopropyl group. CAS:7200-25-1|Beilstein:1725411|Reaxys:1725411|KEGG:C02385|Wikipedia:L-Arginine|PMID:10848923 hp.json 2-amino-5-(carbamimidamido)pentanoic acid|arginine|2-amino-5-guanidinopentanoic acid|Arginine|Arginin|Harg|2-Amino-5-guanidinovaleric acid http://purl.obolibrary.org/obo/CHEBI_29016 3_STAR UBERON:0005475 biolink:AnatomicalEntity sigmoid sinus A portion of the lateral venous sinus, bulging prominently into the mastoid cavity, that serves as a principal conduit by which blood leaves the cranium[EPIC]. The sigmoid is drained by the internal jugular vein. EMAPA:19060|ncithesaurus:Sigmoid_Sinus|EHDAA:9880|VHOG:0001337|FMA:50782|EHDAA2:0001838 hp.json sulcus sigmoideus http://purl.obolibrary.org/obo/UBERON_0005475 human_reference_atlas HP:0025134 biolink:PhenotypicFeature Increased serum estradiol An elevation above normal limits of the concentration of estradiol in the circulation. hp.json Increased estradiol level|Increased serum oestradiol http://purl.obolibrary.org/obo/HP_0025134 HP:0001167 biolink:PhenotypicFeature Abnormality of finger An anomaly of a finger. UMLS:C2674737 hp.json Abnormalities of the fingers|Abnormality of finger http://purl.obolibrary.org/obo/HP_0001167 CHEBI:32660 biolink:ChemicalSubstance asparaginate An alpha-amino-acid anion that is the conjugate base of asparagine, arising from deprotonation of the carboxy group. Gmelin:327370 hp.json 2,4-diamino-4-oxobutanoate|asparaginate|asparagine anion|asp(-) http://purl.obolibrary.org/obo/CHEBI_32660 3_STAR HP:0025135 biolink:PhenotypicFeature Abnormal serum estriol A deviation from normal concentration of estriol in the circulation. hp.json http://purl.obolibrary.org/obo/HP_0025135 CHEBI:32661 biolink:ChemicalSubstance asparaginium hp.json 3-amino-1-carboxy-3-oxopropan-1-aminium|H2asp(+)|asparagine cation|asparaginium http://purl.obolibrary.org/obo/CHEBI_32661 3_STAR UBERON:0005473 biolink:AnatomicalEntity sacral region A subdivision of an organism along the anterior-posterior axis in the pelvic region immediately posterior to the lumbar region and anterior to the caudal region. Sometimes an intermediate region is defined between the sacral and caudal. FMA:24228 hp.json croup|posterior part of pelvis|rump|hindquarter|pelvic back|regio sacralis|sacral part of pelvis|back of pelvis http://purl.obolibrary.org/obo/UBERON_0005473 HP:0025136 biolink:PhenotypicFeature Increased serum estriol An elevation above normal limits of estriol concentration in the circulation. hp.json http://purl.obolibrary.org/obo/HP_0025136 UBERON:0005472 biolink:AnatomicalEntity right vitelline vein A vitelline vein that is in the right side of a multicellular organism. EMAPA:16699|FMA:70306|EHDAA2:0001766|EMAPA:16381|SCTID:361445007 hp.json http://purl.obolibrary.org/obo/UBERON_0005472 HP:0025137 biolink:PhenotypicFeature Decreased serum estriol A reduction below normal limits of estriol in the circulation. hp.json http://purl.obolibrary.org/obo/HP_0025137 HP:0001166 biolink:PhenotypicFeature Arachnodactyly Abnormally long and slender fingers ("spider fingers"). SNOMEDCT_US:62250003|MSH:D054119|UMLS:C0003706 hp.json Long slender fingers|Long, slender fingers|Spider fingers http://purl.obolibrary.org/obo/HP_0001166 HP:0025138 biolink:PhenotypicFeature Abnormal serum estrone A deviation from the normal concentration of circulating estrone. hp.json http://purl.obolibrary.org/obo/HP_0025138 UBERON:0005470 biolink:AnatomicalEntity right umbilical artery FMA:18821|EHDAA2:0001760|VHOG:0000523|EMAPA:16545 hp.json embryonic right umbilical artery http://purl.obolibrary.org/obo/UBERON_0005470 HP:0025139 biolink:PhenotypicFeature Increased serum estrone An elevation above normal limits of the concentration of estrone in the circulation. hp.json http://purl.obolibrary.org/obo/HP_0025139 HP:0001169 biolink:PhenotypicFeature Broad palm For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. UMLS:C0264142|SNOMEDCT_US:48251003 hp.json Broad hands|Broad palm|Wide palm|Broad hand http://purl.obolibrary.org/obo/HP_0001169 CHEBI:17026 biolink:ChemicalSubstance progesterone A C21-steroid hormone in which a pregnane skeleton carries oxo substituents at positions 3 and 20 and is unsaturated at C(4)-C(5). As a hormone, it is involved in the female menstrual cycle, pregnancy and embryogenesis of humans and other species. CAS:57-83-0|Drug_Central:2279|Wikipedia:Progesterone|KEGG:C00410|Beilstein:1915950|MetaCyc:PROGESTERONE|Reaxys:1915950|KEGG:D00066|PMID:9506942|PDBeChem:STR|HMDB:HMDB0001830|CAS:57-83-0|PMID:10438974|DrugBank:DB00396|CAS:57-83-0|Gmelin:708590 hp.json Delta(4)-pregnene-3,20-dione|(S)-Pregn-4-en-3,20-dione|pregn-4-ene-3,20-dione|17alpha-progesterone|Akrolutin|Progesterone|Gelbkoerperhormon|Progesteron|Crinone|(S)-4-Pregnene-3,20-dione|PROGESTERONE|4-Pregnene-3,20-dione|luteohormone|corpus luteum hormone|(S)-Progesterone|progesterone|Agolutin http://purl.obolibrary.org/obo/CHEBI_17026 3_STAR HP:0025130 biolink:PhenotypicFeature Decreased small intestinal mucosa lactase level Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges. hp.json Lactase deficiency http://purl.obolibrary.org/obo/HP_0025130 HP:0001163 biolink:PhenotypicFeature Abnormality of the metacarpal bones hp.json http://purl.obolibrary.org/obo/HP_0001163 UBERON:0005478 biolink:AnatomicalEntity sulcus limitans of neural tube A longitudinal groove in the neural tube wall that divides the neural tube into dorsal (alar) and ventral (basal) halves (dorsal receives input from sensory neurons, ventral effects motor functions); stretches from the mesencephalon caudad[TMD]. BAMS:slim|BAMS:slm|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=629 hp.json neural tube lateral wall sulcus limitans|sulcus limitans http://purl.obolibrary.org/obo/UBERON_0005478 HP:0025131 biolink:PhenotypicFeature Finger swelling Enlargement of the soft tissues of one or more fingers. hp.json Swollen finger|Swelling of fingers|Swollen fingers http://purl.obolibrary.org/obo/HP_0025131 HP:0025132 biolink:PhenotypicFeature Abnormal circulating estrogen level A deviation from normal concentration of the hormone estrogen in the blood circulation. hp.json Abnormal circulating oestrogen level|Abnormal estrogen level|Abnormal oestrogen level http://purl.obolibrary.org/obo/HP_0025132 HP:0001161 biolink:PhenotypicFeature Hand polydactyly A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. MEDDRA:10036064|SNOMEDCT_US:81793007|UMLS:C0158733 hp.json Finger polydactyly|Polydactyly of the hand|Supernumerary finger|Extra finger http://purl.obolibrary.org/obo/HP_0001161 hposlim_core HP:0001162 biolink:PhenotypicFeature Postaxial hand polydactyly Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). SNOMEDCT_US:205131007|UMLS:C0431904 hp.json Postaxial polydactyly of fingers|Polydactyly affecting the 5th finger|Postaxial polydactyly of hands|Postaxial polydactyly of hand|Extra pinkie finger|Extra pinky finger|Extra little finger http://purl.obolibrary.org/obo/HP_0001162 hposlim_core HP:0025133 biolink:PhenotypicFeature Abnormal serum estradiol A deviation from normal concentrations of estradiol in the circulation. hp.json http://purl.obolibrary.org/obo/HP_0025133 UBERON:0005476 biolink:AnatomicalEntity spinal nerve trunk Trunk part of spinal nerve, where dorsal and ventral roots meet to form the spinal nerve, before branching off to dorsal and ventral rami. EHDAA2:0001900|FMA:5929 hp.json spinal neural trunk|trunk of spinal nerve|spinal nerve (trunk) http://purl.obolibrary.org/obo/UBERON_0005476 CHEBI:32678 biolink:ChemicalSubstance glutaminate An alpha-amino-acid anion that is the conjugate base of glutamine, arising from deprotonation of the carboxy group. Gmelin:464703 hp.json 2,5-diamino-5-oxopentanoate|glutaminate|glutamine anion|gln(-) http://purl.obolibrary.org/obo/CHEBI_32678 3_STAR CHEBI:32679 biolink:ChemicalSubstance glutaminium An alpha-amino-acid cation that is the conjugate acid of glutamine, arising from protonation of the amino group. hp.json glutamine cation|glutaminium|4-amino-1-carboxy-4-oxobutan-1-aminium|H2gln(+) http://purl.obolibrary.org/obo/CHEBI_32679 3_STAR HP:0025123 biolink:PhenotypicFeature White streaks/specks on enamel. Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks. hp.json http://purl.obolibrary.org/obo/HP_0025123 HP:0001178 biolink:PhenotypicFeature Ulnar claw An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. UMLS:C4025799 hp.json http://purl.obolibrary.org/obo/HP_0001178 UBERON:0005463 biolink:AnatomicalEntity subcapsular sinus of lymph node A space between the capsule and the cortex which allows the free movement of lymphatic fluid and so contains a sparsity of lymphocytes. It is continuous with the similar lymph sinuses that flank the trabeculae. FMA:312355|UMLS:C1518052|MA:0003027|NCIT:C33642|NCIT:C33033|UMLS:C1518051|EMAPA:37662 hp.json marginal sinus|marginal sinus of lymph node|subcapsular sinus|lymph sinus|lymph path|lymph node subcortical sinus http://purl.obolibrary.org/obo/UBERON_0005463 human_reference_atlas HP:0025124 biolink:PhenotypicFeature Fragile teeth A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma. hp.json Enamel with tendency to chip|Spontaneous tooth fracture http://purl.obolibrary.org/obo/HP_0025124 HP:0001176 biolink:PhenotypicFeature Large hands UMLS:C0426870|SNOMEDCT_US:249752003 hp.json large hand|Disproportionately large hands|Large hands http://purl.obolibrary.org/obo/HP_0001176 UBERON:0005462 biolink:AnatomicalEntity lower back Subdivision of abdominal segment of trunk which in humans is demarcated from the front of the abdomen by the posterior surface of the anterior layer of the thoracolumbar fascia and the anterior surface of the lumbar vertebral column; together with the front of the abdomen, it constitutes the abdomen[Modified from FMA]. MA:0000027|UMLS:C0024090|BTO:0001505|NCIT:C34004|EMAPA:36623|FMA:61681 hp.json abdominal back|lumbar part of back|lombus|lumbar region of back|lumbos|regio lumbalis|dorsum of abdomen|posterior part of abdomen|loin|lower back|lumbar region|back of abdomen http://purl.obolibrary.org/obo/UBERON_0005462 HP:0025125 biolink:PhenotypicFeature White lesion of the oral mucosa White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white. hp.json http://purl.obolibrary.org/obo/HP_0025125 UBERON:0005461 biolink:AnatomicalEntity levator scapulae muscle An axial muscle that originates in the cervical vertebraae inserts on the scapula. FMA:32519|EHDAA:8309|AAO:0010689|EHDAA2:0000992 hp.json levator scapulae muscle|levator scapulae|levator scapulæ|musculus levator scapulae|levator scapula http://purl.obolibrary.org/obo/UBERON_0005461 pheno_slim HP:0001177 biolink:PhenotypicFeature Preaxial hand polydactyly Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. MSH:C536332|SNOMEDCT_US:205135003|UMLS:C1395852|SNOMEDCT_US:445216006 hp.json Preaxial polydactyly of hands|thumb polydactyly|Polydactyly affecting the thumb|Supernumerary thumb|Extra thumb http://purl.obolibrary.org/obo/HP_0001177 HP:0025126 biolink:PhenotypicFeature Oral hairy leukoplakia A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance. hp.json http://purl.obolibrary.org/obo/HP_0025126 UBERON:0005460 biolink:AnatomicalEntity left vitelline vein A vitelline vein that is in the left side of a multicellular organism. FMA:70307|EMAPA:16698|EHDAA2:0000971|EMAPA:16380|SCTID:361446008 hp.json http://purl.obolibrary.org/obo/UBERON_0005460 HP:0025127 biolink:PhenotypicFeature Actinic keratosis A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color. hp.json Solar keratosis http://purl.obolibrary.org/obo/HP_0025127 HP:0025128 biolink:PhenotypicFeature Reduced intraabdominal adipose tissue An abnormally reduced amount of adipose tissue in the abdominal cavity. hp.json http://purl.obolibrary.org/obo/HP_0025128 HP:0025129 biolink:PhenotypicFeature Abnormal small intestinal mucosa morphology A structural anomaly of the mucous lining of the small intestine. hp.json http://purl.obolibrary.org/obo/HP_0025129 HP:0001171 biolink:PhenotypicFeature Split hand A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands. UMLS:C0221373|SNOMEDCT_US:299034005 hp.json Split-hand|Hand ectrodactyly|Ectrodactyly of the hand|Split hand http://purl.obolibrary.org/obo/HP_0001171 UBERON:0005469 biolink:AnatomicalEntity right thymus lobe A thymus lobe that is in the right side of a thymus. RETIRED_EHDAA2:0001758|FMA:71194 hp.json right thymic lobe|right lobe of thymus http://purl.obolibrary.org/obo/UBERON_0005469 CHEBI:17012 biolink:ChemicalSubstance N-acetylneuraminic acid An N-acylneuraminic acid where the N-acyl group is specified as acetyl. PMID:18487279|GlyTouCan:G81533KY|PMID:19329108|Beilstein:2951361|GlyGen:G81533KY|CAS:131-48-6|CAS:131-48-6|PMID:14960498|PMID:16624269|Reaxys:1398688|PMID:7508418|KNApSAcK:C00019584|KEGG:C00270|Wikipedia:N-acetylneuraminic_acid|PMID:8448384|PMID:16209099 hp.json 5-acetamido-3,5-dideoxy-D-glycero-D-galacto-non-2-ulopyranosonic acid|acide aceneuramique|5-Acetamido-3,5-dideoxy-D-glycero-D-galacto-2-nonulosonic acid|aceneuramic acid|acido aceneuramico|N-Acetylneuraminic acid|Aceneuramic acid|WURCS=2.0/1,1,0/[Aad21122h-2x_2-6_5*NCC/3=O]/1/|O-sialic acid|acidium aceneuramicum|NeuAc|Neu5Ac http://purl.obolibrary.org/obo/CHEBI_17012 3_STAR UBERON:0005467 biolink:AnatomicalEntity platysma The platysma is a pharyngeal arch 2 muscle and a superficial facial muscle that participates in oral/pharyngeal behaviors and is innervated by the cervical branch of the facial nerve. It attaches to the mandible and it attaches to the skin of the head, neck, and thoracic region where it is found superficial to the clavicle. Burrows et al. (2011) argue that in hylobatids (and, presumably, other primates) the platysma in the region of the modiolus represents both the cervicale and myoides muscles. MFMO:0000059|UMLS:C1514163|EMAPA:18190|NCIT:C33329|BTO:0005124|EHDAA:8270|FMA:45738|MA:0003026|EHDAA2:0001474|VHOG:0000931 hp.json platysma muscle|platysma myoides|platysma cervicale|neck platysma muscle http://purl.obolibrary.org/obo/UBERON_0005467 HP:0025121 biolink:PhenotypicFeature obsolete Simple partial occipital seizures hp.json http://purl.obolibrary.org/obo/HP_0025121 HP:0001172 biolink:PhenotypicFeature Abnormal thumb morphology An abnormal structure of the first digit of the hand. SNOMEDCT_US:299130003|MSH:C536903|UMLS:C0575897 hp.json Thumb deformity|Abnormality of the thumbs|Abnormality of the thumb http://purl.obolibrary.org/obo/HP_0001172 UBERON:0005465 biolink:AnatomicalEntity obturator nerve The obturator nerve arises from the ventral divisions of the second, third, and fourth lumbar nerves; the branch from the third is the largest, while that from the second is often very small. MESH:D009776|EHDAA2:0001282|FMA:16487|EHDAA:5657|NCIT:C75909|UMLS:C0028783 hp.json nervus obturatorius http://purl.obolibrary.org/obo/UBERON_0005465 HP:0025122 biolink:PhenotypicFeature Sawtooth acanthosis A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. hp.json Sawtoothed acanthosis http://purl.obolibrary.org/obo/HP_0025122 CHEBI:20664 biolink:ChemicalSubstance 5beta-cholane Beilstein:2048472 hp.json 5beta-cholane http://purl.obolibrary.org/obo/CHEBI_20664 3_STAR CHEBI:32646 biolink:ChemicalSubstance methioninium A sulfur-containing amino-acid anion that is the conjugate acid of methionine, arising from protonation of the amino group. Gmelin:326567 hp.json H2met(+)|methioninium|methionine cation|1-carboxy-3-(methylsulfanyl)propan-1-aminium http://purl.obolibrary.org/obo/CHEBI_32646 3_STAR PR:O54990 biolink:Protein prominin-1 (mouse) A prominin-1 that is encoded in the genome of mouse. UniProtKB:O54990 hp.json Proml1|CD133 (mouse)|Prom1|prominin-like protein 1 (mouse)|Prom|antigen AC133 homolog (mouse)|mPROM1 http://purl.obolibrary.org/obo/PR_O54990 CHEBI:68641 biolink:ChemicalSubstance (-)-cotinine An N-alkylpyrrolidine that consists of N-methylpyrrolidinone bearing a pyridin-3-yl substituent at position C-5 (the 5S-enantiomer). It is an alkaloid commonly found in Nicotiana tabacum. Wikipedia:Cotinine|PMID:23000417|PMID:22460317|Reaxys:5736575|PMID:22180597|PMID:22489581|PMID:22871902|PMID:22487419|PMID:22899265|Drug_Central:737|PMID:22200307|PMID:22027507|PMID:23011941|PMID:23087643|LINCS:LSM-5986|PMID:22770225|PMID:22574797|PMID:21655912|PMID:22919158|PMID:22434216|KNApSAcK:C00034470|PMID:22253001|PMID:14700346|PMID:22137886|PMID:22169225|Reaxys:83099|PMID:22809871|PMID:22687995|PMID:22608097|MetaCyc:CPD-2742|PMID:21953524|CAS:486-56-6|PMID:22878732|PMID:22244928|HMDB:HMDB0001046|PMID:22678157 hp.json (S)-1-Methyl-5-(3-pyridinyl)-2-pyrrolidinone|(S)-(-)-Cotinine|cotinine|cotinina|(S)-Cotinine|(5S)-1-methyl-5-(pyridin-3-yl)pyrrolidin-2-one|cotininum|cotinine http://purl.obolibrary.org/obo/CHEBI_68641 3_STAR HP:0025112 biolink:PhenotypicFeature Sound sensitivity Decreased tolerance to sound. hp.json Noise sensitivity http://purl.obolibrary.org/obo/HP_0025112 HP:0001145 biolink:PhenotypicFeature obsolete Chorioretinopathy hp.json http://purl.obolibrary.org/obo/HP_0001145 HP:0001146 biolink:PhenotypicFeature obsolete Pigmentary retinal degeneration hp.json http://purl.obolibrary.org/obo/HP_0001146 HP:0025113 biolink:PhenotypicFeature Misophonia An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound. hp.json http://purl.obolibrary.org/obo/HP_0025113 UBERON:0005451 biolink:AnatomicalEntity segment of manus A segment of autopod that is part of a manus. FMA:24945 hp.json regio manus|hand subdivision|segment of hand|hand region|subdivision of hand http://purl.obolibrary.org/obo/UBERON_0005451 pheno_slim HP:0025114 biolink:PhenotypicFeature Hypergranulosis Hypergranulosis is an increased thickness of the stratum granulosum. hp.json http://purl.obolibrary.org/obo/HP_0025114 HP:0001144 biolink:PhenotypicFeature Orbital cyst Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). SNOMEDCT_US:31021007|UMLS:C0155285 hp.json Cyst of eye socket|Orbital cysts http://purl.obolibrary.org/obo/HP_0001144 HP:0025115 biolink:PhenotypicFeature Civatte bodies Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant hp.json Hyaline bodies|Colloid bodies of Civatte|Cytoid bodies|Colloid bodies http://purl.obolibrary.org/obo/HP_0025115 HP:0001149 biolink:PhenotypicFeature Lattice corneal dystrophy The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. SNOMEDCT_US:361199007|UMLS:C0155127|MSH:D028227|SNOMEDCT_US:1192004 hp.json Biber haab dimmer dystrophy http://purl.obolibrary.org/obo/HP_0001149 HP:0025116 biolink:PhenotypicFeature Fetal distress An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. hp.json Foetal distress http://purl.obolibrary.org/obo/HP_0025116 HP:0025117 biolink:PhenotypicFeature Rete ridge flattening Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance. hp.json Flattened rete pegs|Flattened rete ridges http://purl.obolibrary.org/obo/HP_0025117 HP:0025118 biolink:PhenotypicFeature Lip discoloration Lightening or darkening of the lips from their usual coloring. hp.json http://purl.obolibrary.org/obo/HP_0025118 HP:0001147 biolink:PhenotypicFeature Retinal exudate Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. UMLS:C0240897|SNOMEDCT_US:39832008 hp.json Retinal exudates http://purl.obolibrary.org/obo/HP_0001147 CHEBI:32644 biolink:ChemicalSubstance methioninate A sulfur-containing amino-acid anion that is the conjugate base of methionine, arising from deprotonation of the carboxy group. Beilstein:3937270|Reaxys:3937270|Gmelin:326565 hp.json 2-amino-4-(methylsulfanyl)butanoate|met(-)|methioninate|methionine anion http://purl.obolibrary.org/obo/CHEBI_32644 3_STAR HP:0025119 biolink:PhenotypicFeature Violet lip discoloration An alteration of the color of the lip to take on a violet color. This term does not include cyanosis. hp.json http://purl.obolibrary.org/obo/HP_0025119 UBERON:0005458 biolink:AnatomicalEntity left umbilical artery VHOG:0000522|FMA:18822|EHDAA2:0000966|EMAPA:16544 hp.json embryonic left umbilical artery http://purl.obolibrary.org/obo/UBERON_0005458 HP:0001141 biolink:PhenotypicFeature Severely reduced visual acuity Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation). SNOMEDCT_US:397541004|UMLS:C1301509 hp.json Severe reduction in visual acuity|Severe visual loss|Severe visual impairment|Marked vision impairment|Severely impaired vision|Severe vision loss http://purl.obolibrary.org/obo/HP_0001141 UBERON:0005457 biolink:AnatomicalEntity left thymus lobe A thymus lobe that is in the left side of a thymus. RETIRED_EHDAA2:0000964|FMA:71195 hp.json left lobe of thymus|left thymic lobe http://purl.obolibrary.org/obo/UBERON_0005457 UBERON:0005456 biolink:AnatomicalEntity jugular foramen The jugular foramen is a large aperture in the base of the skull. It is located behind the carotid canal and is formed in front by the petrous portion of the temporal, and behind by the occipital; it is generally larger on the right than on the left side. NCIT:C12496|VHOG:0001113|FMA:56432|EMAPA:18713|UMLS:C0222712|SCTID:361735006|Wikipedia:Jugular_foramen|EHDAA:10631|MESH:D000080869|AAO:0000249|EHDAA2:0000893 hp.json Posterior lacerate foramen|foramen jugulare|foramen jugulare http://purl.obolibrary.org/obo/UBERON_0005456 HP:0001142 biolink:PhenotypicFeature Lenticonus A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. SNOMEDCT_US:253221000|UMLS:C0239119 hp.json http://purl.obolibrary.org/obo/HP_0001142 hposlim_core HP:0025110 biolink:PhenotypicFeature Placoid macular lesion Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula. hp.json http://purl.obolibrary.org/obo/HP_0025110 HP:0001140 biolink:PhenotypicFeature Limbal dermoid A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). UMLS:C1867616|SNOMEDCT_US:92097004|SNOMEDCT_US:5131000119107|UMLS:C0496897 hp.json Epibulbar dermoid|Benign eye tumor|Epibulbar dermoids|Benign eye tumour http://purl.obolibrary.org/obo/HP_0001140 hposlim_core UBERON:0005454 biolink:AnatomicalEntity abdominal internal oblique muscle The lateral abdominal wall muscle that is deep to the external oblique and superficial to the transversus. NCIT:C32857|EHDAA2:0000879|UMLS:C1512878|FMA:13891|EHDAA:8250|MA:0002346|VHOG:0000789|EMAPA:18163 hp.json obliquus internus abdominis muscle|abdominal internal oblique|obliqui internus|musculus obliquus internus abdominis|obliquus internus abdominis|obliquus internus abdominis|internal oblique|abdominal internal oblique muscle|internal oblique muscle|obliquus internus abdominis muscle|internal oblique abdominis muscle|internal abdominal oblique muscle|internal oblique abdominal|internal abdominal oblique|internal oblique abdominis|obliquus internus abdominis|obliquus internus http://purl.obolibrary.org/obo/UBERON_0005454 organ_slim PR:P01731 biolink:Protein T-cell surface glycoprotein CD8 alpha chain (mouse) A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of mouse. UniProtKB:P01731 hp.json Lyt-2|Lyt2|Cd8a|CD8a (mouse)|mCD8A|T-cell surface glycoprotein Lyt-2 (mouse) http://purl.obolibrary.org/obo/PR_P01731 CHEBI:32656 biolink:ChemicalSubstance D-asparaginate Gmelin:533547 hp.json (2R)-2,4-diamino-4-oxobutanoate|D-asparaginate|D-asparagine anion http://purl.obolibrary.org/obo/CHEBI_32656 3_STAR HP:0025109 biolink:PhenotypicFeature Reduced red cell pyruvate kinase level Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. hp.json Reduced erythrocyte pyruvate kinase activity http://purl.obolibrary.org/obo/HP_0025109 CHEBI:32657 biolink:ChemicalSubstance D-asparaginium hp.json (1R)-3-amino-1-carboxy-3-oxopropan-1-aminium|D-asparaginium|D-asparagine cation http://purl.obolibrary.org/obo/CHEBI_32657 3_STAR UBERON:0005442 biolink:AnatomicalEntity abdominal external oblique muscle The lateral abdominal wall muscle that is the most superficial, immediately superficial to the internal oblique. VHOG:0000788|EHDAA:8248|UMLS:C0224375|EMAPA:18162|FMA:13335|NCIT:C32567|EHDAA2:0000469|MA:0002345 hp.json oblique strength|external oblique abdominal muscles|external abdominal oblique|external oblique abdominis|external oblique|obliquus externus|obliquus abdominis externus|external abdominal oblique muscle|obliquus externus abdominis|obliquus externus abdominis|external oblique muscle|abdominal external oblique muscle|obliquus externus abdominis muscle|external oblique abdominis muscle|external abdominal oblique muscle|external oblique|m. obliquus externus abdominis http://purl.obolibrary.org/obo/UBERON_0005442 organ_slim HP:0001156 biolink:PhenotypicFeature Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. UMLS:C0221357|SNOMEDCT_US:43476002|MSH:D059327 hp.json Brachydactyly syndrome|Short fingers or toes http://purl.obolibrary.org/obo/HP_0001156 HP:0025101 biolink:PhenotypicFeature Dysgenesis of the hippocampus Structural abnormality of the hippocampus related to defective development. hp.json Hippocampal dysgenesis http://purl.obolibrary.org/obo/HP_0025101 HP:0025102 biolink:PhenotypicFeature Dysgenesis of the basal ganglia Structural abnormality of the basal ganglia related to defective development. hp.json Basal ganglia dysgenesis http://purl.obolibrary.org/obo/HP_0025102 HP:0025103 biolink:PhenotypicFeature Umbilicated nodule A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated). hp.json http://purl.obolibrary.org/obo/HP_0025103 UBERON:0005440 biolink:AnatomicalEntity ductus arteriosus A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP]. EMAPA:17858|MA:0001947|EHDAA:6462|MESH:D004373|NCIT:C52854|FMA:79871|UMLS:C0013273|EFO:0002515|galen:DuctusArteriosus|VHOG:0000923|EHDAA2:0000420 hp.json ductus arteriosum|Botallo's duct|ductus layton|ductus botalli|arterial canal|arterial duct|fetal ductus arteriosus|ductus Botallo|ductus arteriosis http://purl.obolibrary.org/obo/UBERON_0005440 efo_slim|pheno_slim CHEBI:32650 biolink:ChemicalSubstance L-asparaginate An optically active form of asparaginate having L-configuration. HMDB:HMDB0000168|Reaxys:6115348|Beilstein:6115348|Gmelin:327371 hp.json L-asparaginate|(2S)-2,4-diamino-4-oxobutanoate|L-asparagine anion http://purl.obolibrary.org/obo/CHEBI_32650 3_STAR CHEBI:32651 biolink:ChemicalSubstance L-asparaginium hp.json (1S)-3-amino-1-carboxy-3-oxopropan-1-aminium|L-asparaginium|L-asparagine cation http://purl.obolibrary.org/obo/CHEBI_32651 3_STAR HP:0001155 biolink:PhenotypicFeature Abnormality of the hand An abnormality affecting one or both hands. MSH:D006226|UMLS:C0018564|SNOMEDCT_US:299033004 hp.json Abnormal hands|Hand deformities|Hand anomalies|Abnormality of the hand http://purl.obolibrary.org/obo/HP_0001155 hposlim_core HP:0025104 biolink:PhenotypicFeature Capillary malformation A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). hp.json http://purl.obolibrary.org/obo/HP_0025104 HP:0025105 biolink:PhenotypicFeature Nevus anemicus A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. hp.json Naevus anaemicus http://purl.obolibrary.org/obo/HP_0025105 HP:0025106 biolink:PhenotypicFeature Nevus roseus A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. hp.json http://purl.obolibrary.org/obo/HP_0025106 HP:0025107 biolink:PhenotypicFeature Cutis marmorata telangiectatica congenita A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. hp.json http://purl.obolibrary.org/obo/HP_0025107 HP:0001159 biolink:PhenotypicFeature Syndactyly Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Fyler:4174|MSH:D013576|SNOMEDCT_US:373413006|UMLS:C0039075 hp.json Webbed fingers or toes http://purl.obolibrary.org/obo/HP_0001159 HP:0025108 biolink:PhenotypicFeature Angioma serpentinum Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis. hp.json http://purl.obolibrary.org/obo/HP_0025108 UBERON:0005446 biolink:AnatomicalEntity foramen rotundum The foramen rotundum is a circular hole in the sphenoid bone that connects the middle cranial fossa and the pterygopalatine fossa. EHDAA2:0000552|EHDAA:10629|VHOG:0001543|FMA:53154|AAO:0000194|EMAPA:18712 hp.json foramen rotundum of the skull|round foramen|foramen rotundum ossis sphenoidalis http://purl.obolibrary.org/obo/UBERON_0005446 HP:0001152 biolink:PhenotypicFeature Saccadic smooth pursuit An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. UMLS:C1836479 hp.json Saccadic pursuit movements|Saccadic slow pursuit http://purl.obolibrary.org/obo/HP_0001152 UBERON:0005445 biolink:AnatomicalEntity segment of pes A segment of autopod that is part of a pes. FMA:24993 hp.json regio pedis|subdivision of foot|foot subdivision|foot region|segment of foot http://purl.obolibrary.org/obo/UBERON_0005445 pheno_slim HP:0001153 biolink:PhenotypicFeature Septate vagina The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. UMLS:C0266411|SNOMEDCT_US:47054003 hp.json Double vagina http://purl.obolibrary.org/obo/HP_0001153 HP:0001150 biolink:PhenotypicFeature obsolete Choroidal sclerosis hp.json http://purl.obolibrary.org/obo/HP_0001150 HP:0025100 biolink:PhenotypicFeature Abnormal hippocampus morphology Any structural anomaly of the hippocampus, hp.json Abnormal morphology of the hippocampus|Abnormality of hippocampus morphology http://purl.obolibrary.org/obo/HP_0025100 HP:0001151 biolink:PhenotypicFeature Impaired horizontal smooth pursuit An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. UMLS:C1866753 hp.json Abnormal horizontal ocular pursuit|Impaired horizontal visual pursuit http://purl.obolibrary.org/obo/HP_0001151 HP:0025180 biolink:PhenotypicFeature Centrilobular ground-glass opacification on pulmonary HRCT A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. hp.json Centrilobular groundglass opacity|Centrilobular groundglass opacification http://purl.obolibrary.org/obo/HP_0025180 CHEBI:32627 biolink:ChemicalSubstance leucinate An alpha-amino-acid anion that is the conjugate base of leucine, arising from deprotonation of the carboxy group. Reaxys:5245805 hp.json 2-amino-4-methylpentanoate|leu(-)|leucinate|leucine anion http://purl.obolibrary.org/obo/CHEBI_32627 3_STAR CHEBI:32628 biolink:ChemicalSubstance leucinium An alpha-amino-acid cation that is the conjugate acid of leucine, arising from protonation of the amino group. Gmelin:1651836 hp.json leucine cation|leucinium|1-carboxy-3-methylbutan-1-aminium|H2leu(+) http://purl.obolibrary.org/obo/CHEBI_32628 3_STAR HP:0025178 biolink:PhenotypicFeature Subpleural interstitial thickening Increase in thickness of the subpleural interstitium. hp.json Subpleural scarring http://purl.obolibrary.org/obo/HP_0025178 HP:0025179 biolink:PhenotypicFeature Ground-glass opacification On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. hp.json Ground-glass opacification on pulmonary HRCT|Ground glass opacities|GGO http://purl.obolibrary.org/obo/HP_0025179 HP:0025170 biolink:PhenotypicFeature Neuronal/glioneuronal neoplasm of the central nervous system A central nervous system neoplasm with neuronal and, less consistently, glial differentiation. hp.json Neuronal and mixed neuronal-glial tumour|Neuronal and mixed neuronal-glial tumor|Neuronal/glioneuronal neoplasm of the CNS|Glioneuronal tumor|Glioneuronal tumour http://purl.obolibrary.org/obo/HP_0025170 HP:0025171 biolink:PhenotypicFeature Rosette-forming glioneuronal tumor A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy. hp.json Rosette-forming glioneuronal tumor of the fourth ventricle|Rosette-forming glioneuronal tumour|Rosette-forming glioneuronal tumour of the fourth ventricle|Rosette-forming glioneuronal neoplasm http://purl.obolibrary.org/obo/HP_0025171 HP:0025172 biolink:PhenotypicFeature Smooth septal thickening on pulmonary HRCT Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa. hp.json http://purl.obolibrary.org/obo/HP_0025172 HP:0025173 biolink:PhenotypicFeature Nodular septal thickening on pulmonary HRCT Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa. hp.json http://purl.obolibrary.org/obo/HP_0025173 PR:000005307 biolink:Protein CCAAT/enhancer-binding protein alpha A protein that is a translation product of the human CEBPA gene or a 1:1 ortholog thereof. hp.json CEBP|C/EBP alpha|CEBPA http://purl.obolibrary.org/obo/PR_000005307 HP:0025174 biolink:PhenotypicFeature Irregular septal thickening on pulmonary HRCT Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture. hp.json http://purl.obolibrary.org/obo/HP_0025174 HP:0025175 biolink:PhenotypicFeature Honeycomb lung Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care. hp.json Honeycombing|Honeycomb cysts http://purl.obolibrary.org/obo/HP_0025175 HP:0025176 biolink:PhenotypicFeature Intralobular interstitial thickening A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance. hp.json http://purl.obolibrary.org/obo/HP_0025176 HP:0025177 biolink:PhenotypicFeature Peribronchovascular interstitial thickening Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography. hp.json http://purl.obolibrary.org/obo/HP_0025177 HP:0025167 biolink:PhenotypicFeature Fragmented elastic fibers in the dermis Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers. hp.json Fragmented elastic fibres in the dermis http://purl.obolibrary.org/obo/HP_0025167 HP:0025168 biolink:PhenotypicFeature Left ventricular diastolic dysfunction Abnormal function of the left ventricule during left ventricular relaxation and filling. hp.json http://purl.obolibrary.org/obo/HP_0025168 HP:0025169 biolink:PhenotypicFeature Left ventricular systolic dysfunction Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. hp.json http://purl.obolibrary.org/obo/HP_0025169 PR:000007975 biolink:Protein cobalamin binding intrinsic factor A protein that is a translation product of the human CBLIF gene or a 1:1 ortholog thereof. hp.json INF|IFMH|IF|CBLIF|intrinsic factor|GIF|gastric intrinsic factor http://purl.obolibrary.org/obo/PR_000007975 HP:0025160 biolink:PhenotypicFeature Abnormal temper tantrums A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual. hp.json http://purl.obolibrary.org/obo/HP_0025160 HP:0025161 biolink:PhenotypicFeature Frequent temper tantrums Temper tantrums that occur more frequently than usual. hp.json http://purl.obolibrary.org/obo/HP_0025161 HP:0025162 biolink:PhenotypicFeature Severe temper tantrums Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes. hp.json http://purl.obolibrary.org/obo/HP_0025162 HP:0025163 biolink:PhenotypicFeature Abnormality of optic chiasm morphology A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves. hp.json http://purl.obolibrary.org/obo/HP_0025163 HP:0025164 biolink:PhenotypicFeature Increased number of elastic fibers in the dermis An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. hp.json Increased number of elastic fibres in the dermis http://purl.obolibrary.org/obo/HP_0025164 HP:0025165 biolink:PhenotypicFeature Clumping of elastic fibers in the dermis Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). hp.json Clumping of elastic fibres in the dermis http://purl.obolibrary.org/obo/HP_0025165 HP:0025166 biolink:PhenotypicFeature Thickened elastic fibers in the dermis An increase of the diameter of elastic fibers in the dermis. hp.json Thickened elastic fibres in the dermis http://purl.obolibrary.org/obo/HP_0025166 UBERON:0005497 biolink:AnatomicalEntity non-neural ectoderm XAO:0004091|VHOG:0001372|ZFA:0001178|EHDAA:257|RETIRED_EHDAA2:0001273|TAO:0001178|EMAPA:16074|EFO:0003643 hp.json epidermal ectoderm|ventral ectoderm|surface ectoderm|epidermal ectoderm|epithelial ectoderm|surface ectoderm|non neural ectoderm|epithelial ectoderm http://purl.obolibrary.org/obo/UBERON_0005497 vertebrate_core|efo_slim HP:0025156 biolink:PhenotypicFeature Dependency on intravenous nutrition Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status. hp.json Dependency on IV nutrition http://purl.obolibrary.org/obo/HP_0025156 UBERON:0005496 biolink:AnatomicalEntity neural tube lateral wall Portion of tissue on the side of the lumen of the neural tube. TAO:0001435|EMAPA:16166|EHDAA:2873|EHDAA2:0001257|VHOG:0000513|EHDAA:912|ZFA:0001435 hp.json lateral wall neural tube http://purl.obolibrary.org/obo/UBERON_0005496 vertebrate_core HP:0025157 biolink:PhenotypicFeature Increased urinary sedoheptulose An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group. hp.json http://purl.obolibrary.org/obo/HP_0025157 HP:0001187 biolink:PhenotypicFeature Hyperextensibility of the finger joints The ability of the finger joints to move beyond their normal range of motion. UMLS:C1844577 hp.json Hyperextensible finger|Hyperextensible digits|Hyperextensible fingers|Finger joint hyperextensibility http://purl.obolibrary.org/obo/HP_0001187 HP:0025158 biolink:PhenotypicFeature Hyperautofluorescent retinal lesion Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. hp.json http://purl.obolibrary.org/obo/HP_0025158 HP:0001188 biolink:PhenotypicFeature Hand clenching An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted. UMLS:C0239815 hp.json Clenched hand|Clenched hands|Hand clenching http://purl.obolibrary.org/obo/HP_0001188 hposlim_core HP:0025159 biolink:PhenotypicFeature Hypoautofluorescent retinal lesion Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. hp.json Hypo-autofluorescent retinal lesion http://purl.obolibrary.org/obo/HP_0025159 UBERON:0005493 biolink:AnatomicalEntity hyoid muscle One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. The muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized]. VHOG:0001494|NCIT:C32753|TAO:0000521|UMLS:C0448345|EFO:0003536|EHDAA2:0000794|ZFA:0000521 hp.json hyoid muscles http://purl.obolibrary.org/obo/UBERON_0005493 vertebrate_core|grouping_class|efo_slim UBERON:0005492 biolink:AnatomicalEntity hyaloid vessel A blood vessel that is associated with the lens. In mammals, this is transient and normally nourishes the retina, immature lens and primary vitreous of the developing eye. XAO:0004154|ZFA:0005046|TAO:0005046|VHOG:0000232|EHDAA:4735 hp.json hyaloid blood vessels|hyaloid vascular system|hyaloid vasculature|hyaloid capillary system|hyaloid vessels http://purl.obolibrary.org/obo/UBERON_0005492 vertebrate_core UBERON:0005491 biolink:AnatomicalEntity glossopharyngeal neural crest Cranial neural crest which gives rise to the glossopharyngeal ganglion. EHDAA:660|ZFA:0007066|EHDAA2:0000714|TAO:0007066 hp.json http://purl.obolibrary.org/obo/UBERON_0005491 vertebrate_core HP:0001181 biolink:PhenotypicFeature Adducted thumb In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. UMLS:C3554617 hp.json Thumb-in-palm pattern|Thumb-in-palm deformity|Adducted thumbs|Inward turned thumb http://purl.obolibrary.org/obo/HP_0001181 HP:0001182 biolink:PhenotypicFeature Tapered finger The gradual reduction in girth of the finger from proximal to distal. UMLS:C0426886|SNOMEDCT_US:249768009 hp.json Tapered fingers|Tapering fingers|Tapered finger|Distally tapering fingers|Tapered fingertips http://purl.obolibrary.org/obo/HP_0001182 hposlim_core CHEBI:17002 biolink:ChemicalSubstance cholesteryl ester A sterol ester obtained by formal condensation of the carboxy group of any carboxylic acid with the 3-hydroxy group of cholesterol. KEGG:C02530|PMID:2474544 hp.json cholesteryl esters|Cholesterol ester|cholesterol esters|a cholesterol ester http://purl.obolibrary.org/obo/CHEBI_17002 3_STAR HP:0025150 biolink:PhenotypicFeature Hypoganglionosis Sparse and small myenteric ganglia hp.json http://purl.obolibrary.org/obo/HP_0025150 HP:0025151 biolink:PhenotypicFeature Ganglioneuromatosis Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers. hp.json http://purl.obolibrary.org/obo/HP_0025151 HP:0001180 biolink:PhenotypicFeature Hand oligodactyly A developmental defect resulting in the presence of fewer than the normal number of fingers. SNOMEDCT_US:71358006|UMLS:C0728895 hp.json Hand has less than 5 fingers http://purl.obolibrary.org/obo/HP_0001180 HP:0025152 biolink:PhenotypicFeature Poor visual behavior for age Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones. hp.json Poor visual behaviour for age|Abnormal visual behavior for age|Abnormal visual behaviour for age http://purl.obolibrary.org/obo/HP_0025152 HP:0025153 biolink:PhenotypicFeature Transient Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. hp.json http://purl.obolibrary.org/obo/HP_0025153 UBERON:0005499 biolink:AnatomicalEntity rhombomere 1 Hindbrain segment or neuromere 1. FMA:295790|EHDAA2:0001637|EFO:0003608|DHBA:12667|ZFA:0001031|DMBA:16915|TAO:0001031|EMAPA:16290 hp.json r1 http://purl.obolibrary.org/obo/UBERON_0005499 vertebrate_core|pheno_slim|efo_slim HP:0025154 biolink:PhenotypicFeature Portosystemic collateral veins Presence of biliary veins that serve as a collateral channel to the systemic circulation hp.json Collateral biliary circulation|Collateral biliary veins http://purl.obolibrary.org/obo/HP_0025154 HP:0025155 biolink:PhenotypicFeature Abnormality of hepatobiliary system physiology A functional anomaly of the hepatobiliary system hp.json http://purl.obolibrary.org/obo/HP_0025155 UBERON:0005498 biolink:AnatomicalEntity primitive heart tube Multi-tissue structure that arises from the heart rudiment and will become the heart tube. EHDAA:436|TAO:0000149|EHDAA:424|EHDAA2:0001512|FMA:321916|Wikipedia:Primitive_heart_tube|SCTID:361522004|ZFA:0000149|EMAPA:16215 hp.json primitive heart tube|early primitive heart tube http://purl.obolibrary.org/obo/UBERON_0005498 vertebrate_core CHEBI:32612 biolink:ChemicalSubstance isoleucinate Gmelin:101585 hp.json rel-(2R,3R)-2-amino-3-methylpentanoate|ile(-)|isoleucinate|isoleucine anion http://purl.obolibrary.org/obo/CHEBI_32612 3_STAR CHEBI:32613 biolink:ChemicalSubstance isoleucinium Gmelin:1651827 hp.json H2ile(+)|rel-(1R,2R)-1-carboxy-2-methylbutan-1-aminium|isoleucinium|isoleucine cation http://purl.obolibrary.org/obo/CHEBI_32613 3_STAR UBERON:0005486 biolink:AnatomicalEntity venous dural sinus A venous channel found between layers of dura mater in the brain. Receives blood from internal and external veins of the brain, receive cerebrospinal fluid (CSF) from the subarachnoid space, and ultimately empty into the internal jugular vein. NCIT:C102627|EMAPA:18634|EHDAA:6491|MA:0002113|EHDAA2:0002169|FMA:50762|VHOG:0001004 hp.json dural venous sinus|dural vein|venous dural|dural sinus|cranial dural venous sinus|venous dural sinus|s. durae matris http://purl.obolibrary.org/obo/UBERON_0005486 HP:0025145 biolink:PhenotypicFeature Rigors Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever. hp.json Rigours http://purl.obolibrary.org/obo/HP_0025145 GO:0043604 biolink:BiologicalProcess amide biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. hp.json http://purl.obolibrary.org/obo/GO_0043604 HP:0025146 biolink:PhenotypicFeature Foveal degeneration Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina. hp.json http://purl.obolibrary.org/obo/HP_0025146 UBERON:0005484 biolink:AnatomicalEntity tricuspid valve leaflet A valve leaflet that is part of a tricuspid valve. MA:0003180|FMA:7237|EMAPA:18630|VHOG:0000821|RETIRED_EHDAA2:0002082 hp.json leaflet of tricuspid valve|tricuspid valve leaflets|tricuspid valvular leaflet|tricuspid valve leaflet http://purl.obolibrary.org/obo/UBERON_0005484 pheno_slim HP:0025147 biolink:PhenotypicFeature Beaten bronze macular sheen A shiny appearance of the macula, which is often called a beaten bronze appearance. hp.json Beaten-bronze macular sheen|Beaten metal macular appearance|Beaten-bronze macular appearance http://purl.obolibrary.org/obo/HP_0025147 HP:0001199 biolink:PhenotypicFeature Triphalangeal thumb A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. MSH:C573898|UMLS:C0241397|SNOMEDCT_US:205308004 hp.json Finger-like thumb|Accessory phalanx of the thumb|Triphalangy of thumb|Digitalized thumb|Triphalangeal thumbs http://purl.obolibrary.org/obo/HP_0001199 hposlim_core HP:0025148 biolink:PhenotypicFeature Dark choroid A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). hp.json http://purl.obolibrary.org/obo/HP_0025148 UBERON:0005483 biolink:AnatomicalEntity thymus lobe Either of the two lateral lobes that constitute the thymus. RETIRED_EHDAA2:0002021|FMA:71193 hp.json lobe of thymus|lateral lobe of thymus http://purl.obolibrary.org/obo/UBERON_0005483 human_reference_atlas HP:0025149 biolink:PhenotypicFeature Atrophic muscularis propria Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. hp.json Autonomic visceral myopathy|Degenerative enteric myopathy http://purl.obolibrary.org/obo/HP_0025149 GO:0043603 biolink:BiologicalProcess cellular amide metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. hp.json amide metabolism http://purl.obolibrary.org/obo/GO_0043603 goslim_pir HP:0001193 biolink:PhenotypicFeature Ulnar deviation of the hand or of fingers of the hand UMLS:C4048199 hp.json http://purl.obolibrary.org/obo/HP_0001193 HP:0001191 biolink:PhenotypicFeature Abnormal carpal morphology An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). UMLS:C1840535 hp.json Abnormal wrist bones|Abnormality of the carpal bones|Anomalous carpal bones|Carpal bone anomalies|Abnormal carpal bones http://purl.obolibrary.org/obo/HP_0001191 hposlim_core HP:0025140 biolink:PhenotypicFeature Decreased serum estrone A reduction below normal limits of the concentration of estrone in the circulation. hp.json http://purl.obolibrary.org/obo/HP_0025140 HP:0001196 biolink:PhenotypicFeature Short umbilical cord Decreased length of the umbilical cord. SNOMEDCT_US:59795007|UMLS:C0266786 hp.json Short umbilical cord http://purl.obolibrary.org/obo/HP_0001196 HP:0025141 biolink:PhenotypicFeature Gingival calcification Ectopic deposition of calcium salts found in the gingiva. hp.json Gingival calcifications http://purl.obolibrary.org/obo/HP_0025141 HP:0001197 biolink:PhenotypicFeature Abnormality of prenatal development or birth An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. UMLS:C4025797 hp.json Abnormality of prenatal development or birth http://purl.obolibrary.org/obo/HP_0001197 HP:0025142 biolink:PhenotypicFeature Constitutional symptom A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. hp.json http://purl.obolibrary.org/obo/HP_0025142 HP:0025143 biolink:PhenotypicFeature Chills A sudden sensation of feeling cold. hp.json Chills http://purl.obolibrary.org/obo/HP_0025143 CHEBI:78017 biolink:ChemicalSubstance food propellant A propellant that is used to expel foods from an aerosol container. hp.json food propellants http://purl.obolibrary.org/obo/CHEBI_78017 3_STAR HP:0001194 biolink:PhenotypicFeature Abnormalities of placenta or umbilical cord An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). UMLS:C4025798 hp.json Abnormalities of placenta or umbilical cord http://purl.obolibrary.org/obo/HP_0001194 HP:0001195 biolink:PhenotypicFeature Single umbilical artery Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. MSH:D058529|SNOMEDCT_US:204470001|UMLS:C1384670 hp.json Two-vessel cord|2 vessel cord|2 vessel umbilical cord|Only one artery in umbilical cord instead of two|Two vessel cord|Two vessel umbilical cord http://purl.obolibrary.org/obo/HP_0001195 HP:0025144 biolink:PhenotypicFeature Shivering Involuntary contraction or twitching of the muscles. hp.json Shuddering|Shivering http://purl.obolibrary.org/obo/HP_0025144 UBERON:0005487 biolink:AnatomicalEntity vitelline vein The paired veins that carry blood from the yolk sac back to the embryo. NCIT:C34329|FMA:70305|XAO:0000376|SCTID:308832003|XAO:0004147|EMAPA:36021|Wikipedia:Vitelline_veins|SCTID:2730004|RETIRED_EHDAA2:0002209|UMLS:C0231091|VHOG:0000401 hp.json vitelline veins|vascular vitelline network|vein of omphalomesenteric system|vena vitellina|omphalomesenteric vein|embryonic vitelline vein|vena vitellina http://purl.obolibrary.org/obo/UBERON_0005487 vertebrate_core|pheno_slim GO:0006665 biolink:BiologicalProcess sphingolipid metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). hp.json sphingolipid metabolism http://purl.obolibrary.org/obo/GO_0006665 HP:0003749 biolink:PhenotypicFeature Pelvic girdle muscle weakness Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. SNOMEDCT_US:249941003|UMLS:C0427064 hp.json Pelvic girdle weakness|Hip-girdle muscle weakness|Hip girdle weakness|Hip girdle muscle weakness http://purl.obolibrary.org/obo/HP_0003749 GO:0006664 biolink:BiologicalProcess glycolipid metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. hp.json glycolipid metabolism http://purl.obolibrary.org/obo/GO_0006664 HP:0003741 biolink:PhenotypicFeature Congenital muscular dystrophy SNOMEDCT_US:240059009|UMLS:C0699743 hp.json Muscular dystrophy, congenital http://purl.obolibrary.org/obo/HP_0003741 HP:0003740 biolink:PhenotypicFeature Myotonia with warm-up phenomenon Myotonia that occurs after a period of rest and decreases with continuing exercise. UMLS:C4025575 hp.json http://purl.obolibrary.org/obo/HP_0003740 PATO:0001178 biolink:NamedThing resistant to A resistance quality inhering in a bearer by virtue of the bearer's resistance to a stimulus. hp.json resistant http://purl.obolibrary.org/obo/PATO_0001178 disposition_slim|relational_slim|value_slim HP:0003745 biolink:PhenotypicFeature Sporadic Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. UMLS:C1853237 hp.json No previous family history|Isolated cases http://purl.obolibrary.org/obo/HP_0003745 HP:0003744 biolink:PhenotypicFeature Genetic anticipation with paternal anticipation bias A type of genetic anticipation observed predominantly upon transmission from affected males. UMLS:C1834002|UMLS:C4025574 hp.json Paternal anticipation bias http://purl.obolibrary.org/obo/HP_0003744 HP:0003743 biolink:PhenotypicFeature Genetic anticipation A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations. UMLS:C0600498|MSH:D020132 hp.json Autosomal dominant with genetic anticipation http://purl.obolibrary.org/obo/HP_0003743 CHEBI:30089 biolink:ChemicalSubstance acetate A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid. PMID:22211106|UM-BBD_compID:c0050|Wikipedia:Acetate|PMID:17190852|KEGG:C00033|PDBeChem:ACT|CAS:71-50-1|Beilstein:1901470|Gmelin:1379|Reaxys:1901470|PMID:22371380|MetaCyc:ACET|DrugBank:DB03166|CAS:71-50-1 hp.json Azetat|ethanoate|acetate|acetate|MeCO2 anion|CH3-COO(-)|acetic acid, ion(1-)|Ethanoat|ACETATE ION http://purl.obolibrary.org/obo/CHEBI_30089 3_STAR PATO:0001171 biolink:NamedThing elastic An elasticity quality inhering in a bearer by virtue of the bearer's ability to recover its size and shape after deformation in any way. hp.json http://purl.obolibrary.org/obo/PATO_0001171 disposition_slim|value_slim|mpath_slim HP:0003759 biolink:PhenotypicFeature Hypoplasia of lymphatic vessels Congenital underdevelopment of lymph vessels. UMLS:C4025570 hp.json Underdeveloped lymphatic vessels http://purl.obolibrary.org/obo/HP_0003759 GO:0006672 biolink:BiologicalProcess ceramide metabolic process The chemical reactions and pathways involving ceramides, any N-acylated sphingoid. hp.json ceramide metabolism http://purl.obolibrary.org/obo/GO_0006672 HP:0003758 biolink:PhenotypicFeature Reduced subcutaneous adipose tissue A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. UMLS:C1857657|UMLS:C0424631|SNOMEDCT_US:248316006 hp.json Reduced fat tissue below the skin|Reduced subcutaneous fat|Decreased subcutaneous adipose tissue|Scanty adipose tissue|Decreased subcutaneous fat http://purl.obolibrary.org/obo/HP_0003758 HP:0003752 biolink:PhenotypicFeature Episodic flaccid weakness Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. UMLS:C4025572 hp.json http://purl.obolibrary.org/obo/HP_0003752 HP:0003750 biolink:PhenotypicFeature Increased muscle fatiguability An abnormal, increased fatiguability of the musculature. UMLS:C0242979|UMLS:C4025573|MSH:D018763|SNOMEDCT_US:80449002 hp.json Muscle fatigue http://purl.obolibrary.org/obo/HP_0003750 HP:0003756 biolink:PhenotypicFeature Skeletal myopathy SNOMEDCT_US:75047002|UMLS:C1533847 hp.json http://purl.obolibrary.org/obo/HP_0003756 HP:0003755 biolink:PhenotypicFeature Type 1 fibers relatively smaller than type 2 fibers The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. UMLS:C4025571 hp.json Type 1 fibres relatively smaller than type 2 fibres http://purl.obolibrary.org/obo/HP_0003755 GO:0006643 biolink:BiologicalProcess membrane lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. hp.json membrane lipid metabolism http://purl.obolibrary.org/obo/GO_0006643 HP:0003725 biolink:PhenotypicFeature Firm muscles UMLS:C1850656 hp.json http://purl.obolibrary.org/obo/HP_0003725 HP:0003729 biolink:PhenotypicFeature Enteroviral dermatomyositis syndrome UMLS:C3806660 hp.json http://purl.obolibrary.org/obo/HP_0003729 HP:0003720 biolink:PhenotypicFeature Generalized muscle hypertrophy Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution. UMLS:C3805639 hp.json Generalized increase in muscle cell size|Generalised increase in muscle cell size|Generalised muscle hypertrophy http://purl.obolibrary.org/obo/HP_0003720 PATO:0001195 biolink:NamedThing proximal to A spatial quality inhering in a bearer by virtue of the bearer's being located more centrally than another entity. hp.json http://purl.obolibrary.org/obo/PATO_0001195 relational_slim|value_slim|mpath_slim HP:0003724 biolink:PhenotypicFeature Shoulder girdle muscle atrophy Amyotrophy affecting the muscles of the shoulder girdle. UMLS:C1847766 hp.json Shoulder girdle muscle wasting|Shoulder girdle atrophy|Shoulder-girdle muscle atrophy http://purl.obolibrary.org/obo/HP_0003724 HP:0003722 biolink:PhenotypicFeature Neck flexor weakness Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). UMLS:C1843637 hp.json Neck flexor muscle weakness|Neck flexion weakness http://purl.obolibrary.org/obo/HP_0003722 PATO:0001190 biolink:NamedThing juvenile A maturity quality inhering in a bearer by virtue the bearer's being not fully grown or developed. hp.json http://purl.obolibrary.org/obo/PATO_0001190 mpath_slim|value_slim PR:O15353 biolink:Protein forkhead box protein N1 (human) A forkhead box protein N1 that is encoded in the genome of human. UniProtKB:O15353 hp.json RONU|FOXN1|hFOXN1|WHN|winged-helix transcription factor nude (human) http://purl.obolibrary.org/obo/PR_O15353 HP:0003739 biolink:PhenotypicFeature Myoclonic spasms UMLS:C3806442 hp.json http://purl.obolibrary.org/obo/HP_0003739 HP:0003738 biolink:PhenotypicFeature Exercise-induced myalgia The occurrence of an unusually high amount of muscle pain following exercise. UMLS:C1850830 hp.json Muscle pain with exercise|Muscle pain, exercise-induced|Muscle pain on exercise|Exercise-induced muscle pain http://purl.obolibrary.org/obo/HP_0003738 HP:0003737 biolink:PhenotypicFeature Mitochondrial myopathy A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. UMLS:C0162670|MSH:D017240|SNOMEDCT_US:16851005 hp.json http://purl.obolibrary.org/obo/HP_0003737 HP:0003736 biolink:PhenotypicFeature Autophagic vacuoles The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. UMLS:C0544966 hp.json http://purl.obolibrary.org/obo/HP_0003736 HP:0003731 biolink:PhenotypicFeature Quadriceps muscle weakness Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). SNOMEDCT_US:300948004|UMLS:C0577655 hp.json Quadriceps weakness http://purl.obolibrary.org/obo/HP_0003731 HP:0003730 biolink:PhenotypicFeature EMG: myotonic runs Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). UMLS:C4025576|UMLS:C4020837 hp.json EMG: spontaneous, repetitive electrical activity http://purl.obolibrary.org/obo/HP_0003730 HP:0003733 biolink:PhenotypicFeature Thigh hypertrophy Muscle hypertrophy affecting the thighs. UMLS:C1846674 hp.json Increased thigh size http://purl.obolibrary.org/obo/HP_0003733 HP:0001129 biolink:PhenotypicFeature Large central visual field defect UMLS:C4025800 hp.json Large central loss of field of vision http://purl.obolibrary.org/obo/HP_0001129 HGNC:4268 biolink:Gene CBLIF (human) A protein coding gene CBLIF in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4268 CHEBI:29057 biolink:ChemicalSubstance keratan hp.json http://purl.obolibrary.org/obo/CHEBI_29057 1_STAR HP:0001123 biolink:PhenotypicFeature Visual field defect SNOMEDCT_US:12184005|UMLS:C3887875 hp.json Visual field defects|Partial loss of field of vision http://purl.obolibrary.org/obo/HP_0001123 UBERON:0005430 biolink:AnatomicalEntity ansa cervicalis A loop of nerves that are part of the cervical plexus that lies superficial to the internal jugular vein in the carotid sheath. Branches from the ansa cervicalis innervate three of the four infrahyoid muscles, including the sternohyoid muscle, the sternothyroid muscle, and the omohyoid muscle. FMA:55142|BAMS:ancer|EHDAA:6669|EHDAA2:0000124 hp.json ansa cervicalis|ansa hypoglossi http://purl.obolibrary.org/obo/UBERON_0005430 HP:0003785 biolink:PhenotypicFeature Decreased CSF homovanillic acid concentration Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. UMLS:C4280803 hp.json http://purl.obolibrary.org/obo/HP_0003785 HP:0003784 biolink:PhenotypicFeature Type 1 collagen overmodification UMLS:C1970463 hp.json http://purl.obolibrary.org/obo/HP_0003784 HP:0001122 biolink:PhenotypicFeature obsolete Aplasia/Hypoplasia of the choroid hp.json http://purl.obolibrary.org/obo/HP_0001122 HP:0003783 biolink:PhenotypicFeature obsolete Externally rotated/abducted legs hp.json http://purl.obolibrary.org/obo/HP_0003783 CHEBI:4439 biolink:ChemicalSubstance dermatan A mucopolysaccharide consisting of repeating beta-(1->4)-linked L-iduronyl-(alpha1->3)-N-acetyl-D-galactosamine units. KEGG:C01490 hp.json Dermatan|Dermatan L-iduronate http://purl.obolibrary.org/obo/CHEBI_4439 3_STAR HP:0001128 biolink:PhenotypicFeature Trichiasis Inversion and rubbing of the eyelashes against the globe of the eye. SNOMEDCT_US:60332004|MSH:D058457|UMLS:C0221259 hp.json Introversion of eyelashes|Trichiasis of eyelid eyelashes|Ingrown eyelashes http://purl.obolibrary.org/obo/HP_0001128 HP:0003789 biolink:PhenotypicFeature Minicore myopathy Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. UMLS:C1850674|MSH:C564969 hp.json http://purl.obolibrary.org/obo/HP_0003789 HP:0001125 biolink:PhenotypicFeature Transient unilateral blurring of vision Transient blurring of vision associated with the aura phase of migraine. UMLS:C1865332 hp.json Transient unilateral blurred vision|Hemianopic blurring|Hemianoptic blurring of vision http://purl.obolibrary.org/obo/HP_0001125 HP:0003787 biolink:PhenotypicFeature Type 1 and type 2 muscle fiber minicore regions Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. UMLS:C4025568 hp.json Type 1 and type 2 muscle fibre minicore regions http://purl.obolibrary.org/obo/HP_0003787 HP:0001126 biolink:PhenotypicFeature Cryptophthalmos Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. SNOMEDCT_US:400951005|UMLS:C0311249 hp.json http://purl.obolibrary.org/obo/HP_0001126 hposlim_core UBERON:0005438 biolink:AnatomicalEntity coronary sinus The short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium, with the sinoatrial connection occurring between the inferior vena cava and the atrioventricular orifice. FMA:4706|EHDAA2:0000320|EHDAA:9884|MESH:D054326|UMLS:C0456944|EMAPA:37836|NCIT:C32378 hp.json sinus coronarius|sinus coronarius http://purl.obolibrary.org/obo/UBERON_0005438 pheno_slim|human_reference_atlas UBERON:0005436 biolink:AnatomicalEntity common hepatic artery In anatomy, the common hepatic artery is a short blood vessel that supplies oxygenated blood to the liver, pylorus (a part of the stomach), duodenum (a part of the small intestine) and pancreas. It arises from the celiac artery and has the following branches:. EMAPA:37206|MA:0003094|EHDAA2:0000308|EHDAA:8570|galen:CommonHepaticArtery|FMA:14771 hp.json common hepatic|arteria hepatica communis http://purl.obolibrary.org/obo/UBERON_0005436 human_reference_atlas HP:0003782 biolink:PhenotypicFeature Eunuchoid habitus A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). UMLS:C4025569 hp.json http://purl.obolibrary.org/obo/HP_0003782 HP:0003781 biolink:PhenotypicFeature Excessive salivation Excessive production of saliva. SNOMEDCT_US:53827007|SNOMEDCT_US:275295002|SNOMEDCT_US:62718007|UMLS:C0037036|UMLS:C0013132|MSH:D012798 hp.json Watery mouth|Excessive salivation|Mouth watering|Hypersalivation|Oversalivation|Excessive production of saliva|Ptyalism http://purl.obolibrary.org/obo/HP_0003781 UBERON:0005434 biolink:AnatomicalEntity cervical region FMA:24219|SCTID:123958008 hp.json region of neck|neck subdivision|cervical region|subdivision of neck http://purl.obolibrary.org/obo/UBERON_0005434 HP:0001120 biolink:PhenotypicFeature Abnormality of corneal size Any abnormality of the size or morphology of the cornea. UMLS:C4025802 hp.json http://purl.obolibrary.org/obo/HP_0001120 GO:0006629 biolink:BiologicalProcess lipid metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. Wikipedia:Lipid_metabolism hp.json lipid metabolism http://purl.obolibrary.org/obo/GO_0006629 goslim_plant|goslim_pir|goslim_pombe|goslim_drosophila|goslim_chembl|goslim_aspergillus|goslim_mouse|goslim_metagenomics|goslim_yeast|goslim_candida|goslim_agr|goslim_generic|prokaryote_subset UBERON:0005432 biolink:AnatomicalEntity aortic sac The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates. EHDAA2:0004145|FMA:71008|RETIRED_EHDAA2:0000133|SCTID:361527005|EMAPA:36461|EHDAA:9826 hp.json saccus aorticus http://purl.obolibrary.org/obo/UBERON_0005432 pheno_slim CHEBI:17062 biolink:ChemicalSubstance primary aliphatic amine KEGG:C00375 hp.json RCH2NH2|RCH2NH2|primary aliphatic amines http://purl.obolibrary.org/obo/CHEBI_17062 3_STAR UBERON:0005419 biolink:AnatomicalEntity pectoral appendage bud A limb bud that develops into a forelimb or pectoral fin. VHOG_RETIRED:0001259|ZFA:0000141|TAO:0000141|VHOG:0001754|EFO:0003430 hp.json pectoral fin bud|pectoral fin buds|forelimb - pectoral fin bud http://purl.obolibrary.org/obo/UBERON_0005419 efo_slim UBERON:0005418 biolink:AnatomicalEntity hindlimb bud A limb bud that develops into a hindlimb. EHDAA:2358|XAO:0003066|RETIRED_EHDAA2:0003197|MIAA:0000256|EMAPA:16779|AAO:0010382 hp.json leg bud|hind limb bud|posterior limb bud|limb bud - hindlimb http://purl.obolibrary.org/obo/UBERON_0005418 pheno_slim GO:0006631 biolink:BiologicalProcess fatty acid metabolic process The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. Wikipedia:Fatty_acid_metabolism hp.json fatty acid metabolism http://purl.obolibrary.org/obo/GO_0006631 CHEBI:29067 biolink:ChemicalSubstance carboxylic acid anion The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated. hp.json carboxylic anions|carboxylic acid anions|a carboxylate http://purl.obolibrary.org/obo/CHEBI_29067 3_STAR UBERON:0005420 biolink:AnatomicalEntity pelvic appendage bud A limb bud that develops into a hindlimb or pelvic fin. ZFA:0001384|EFO:0003469|TAO:0001384|VHOG:0001260 hp.json hindlimb/pelvic fin bud|pelvic fin buds|pelvic fin bud http://purl.obolibrary.org/obo/UBERON_0005420 efo_slim HP:0001134 biolink:PhenotypicFeature Anterior polar cataract A polar cataract that affects the anterior pole of the lens. MSH:C538282|UMLS:C1855179 hp.json Polar cataract, anterior http://purl.obolibrary.org/obo/HP_0001134 HP:0003797 biolink:PhenotypicFeature Limb-girdle muscle atrophy Muscular atrophy affecting the muscles of the limb girdle. UMLS:C1404521|UMLS:C1842552 hp.json Limb-girdle myopathy|Wasting of limb-girdle muscle http://purl.obolibrary.org/obo/HP_0003797 HP:0003796 biolink:PhenotypicFeature Irregular iliac crest Irregularity of the iliac crest, which is the superior border of the wing of the ilium. UMLS:C1855180 hp.json http://purl.obolibrary.org/obo/HP_0003796 HP:0001135 biolink:PhenotypicFeature Chorioretinal dystrophy UMLS:C1857627 hp.json http://purl.obolibrary.org/obo/HP_0001135 HP:0003795 biolink:PhenotypicFeature Short middle phalanx of toe Developmental hypoplasia (shortening) of middle phalanx of toe. UMLS:C4021723 hp.json Short middle phalanges of toes|Short middle bones (feet) http://purl.obolibrary.org/obo/HP_0003795 HP:0001132 biolink:PhenotypicFeature Lens subluxation Partial dislocation of the lens of the eye. UMLS:C0023316|MSH:D007906|SNOMEDCT_US:65814009 hp.json Partially dislocated lens http://purl.obolibrary.org/obo/HP_0001132 HP:0001133 biolink:PhenotypicFeature Constriction of peripheral visual field An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. UMLS:C0235095|SNOMEDCT_US:1151008|SNOMEDCT_US:267628004 hp.json Constricted visual field|Limited peripheral vision|Concentric narrowing of visual field|Reduced peripheral vision|Constricted visual fields|Visual field constriction http://purl.obolibrary.org/obo/HP_0001133 HP:0001138 biolink:PhenotypicFeature Optic neuropathy SNOMEDCT_US:82108004|UMLS:C3887709 hp.json Damaged optic nerve http://purl.obolibrary.org/obo/HP_0001138 HP:0001139 biolink:PhenotypicFeature Choroideremia SNOMEDCT_US:75241009|MSH:D015794|UMLS:C0008525 hp.json http://purl.obolibrary.org/obo/HP_0001139 HP:0003799 biolink:PhenotypicFeature Marked delay in bone age UMLS:C1868549 hp.json Markedly retarded bone age|Marked retardation in skeletal maturation|Marked delay in bone age http://purl.obolibrary.org/obo/HP_0003799 HP:0001136 biolink:PhenotypicFeature Retinal arteriolar tortuosity The presence of an increased number of twists and turns of the retinal arterioles. UMLS:C1843517 hp.json Tortuous retinal arterioles http://purl.obolibrary.org/obo/HP_0001136 HP:0001137 biolink:PhenotypicFeature Alternating esotropia Esotropia in which either eye may be used for fixation. SNOMEDCT_US:39837002|UMLS:C0152205 hp.json Alternating cross eyes http://purl.obolibrary.org/obo/HP_0001137 NCBITaxon:716545 biolink:OrganismalEntity saccharomyceta GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_716545 HP:0003798 biolink:PhenotypicFeature Nemaline bodies Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. UMLS:C3808039 hp.json Nemaline rods http://purl.obolibrary.org/obo/HP_0003798 UBERON:0005428 biolink:AnatomicalEntity vagal neural crest Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. ZFA:0000818|VHOG:0001208|EHDAA2:0002156|TAO:0000818|XAO:0004191|EHDAA:669 hp.json enteric neural crest|post-otic neural crest|VNC http://purl.obolibrary.org/obo/UBERON_0005428 vertebrate_core UBERON:0005427 biolink:AnatomicalEntity corneal primordium Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. TAO:0002188|ZFA:0001688 hp.json http://purl.obolibrary.org/obo/UBERON_0005427 UBERON:0005426 biolink:AnatomicalEntity lens vesicle Portion of tissue that gives rise to the lens. EHDAA2:0000983|EMAPA:17163|ZFA:0001679|SCTID:361510002|EHDAA:4737|TAO:0002205|VHOG:0001163 hp.json immature lens|presumptive lens|hollow lens vesicle|solid lens vesicle|lens mass http://purl.obolibrary.org/obo/UBERON_0005426 pheno_slim|vertebrate_core UBERON:0005425 biolink:AnatomicalEntity presumptive neural retina Portion of tissue that is the inner layer of the optic cup and will become the neural retina. VHOG:0000490|ZFA:0001071|TAO:0001071|EMAPA:16675|EHDAA2:0001304 hp.json future NR|future retinal neural layer|presumptive retina|future neural layer|future neural epithelium|presumptive retinas|optic cup inner layer|future neural retina|inner layer optic cup http://purl.obolibrary.org/obo/UBERON_0005425 vertebrate_core UBERON:0005424 biolink:AnatomicalEntity presumptive retinal pigmented epithelium Portion of tissue that is the outer layer of the optic cup and will become the retinal pigmented epithelium. ZFA:0000064|TAO:0000064|EMAPA:16677|EHDAA2:0001306|VHOG:0000492 hp.json future pigmented layer|future RPE|optic cup outer layer|future retinal pigmented epithelium|presumptive pigmented epithelium|future pigmented retinal epithelium|future PRE|presumptive pigmented epithelia|outer layer optic cup http://purl.obolibrary.org/obo/UBERON_0005424 vertebrate_core HP:0001131 biolink:PhenotypicFeature Corneal dystrophy The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. SNOMEDCT_US:5587004|UMLS:C0010036 hp.json http://purl.obolibrary.org/obo/HP_0001131 hposlim_core UBERON:0005423 biolink:AnatomicalEntity developing anatomical structure FBbt:00007006|FMA:292313|MIAA:0000019|EHDAA2:0003125|AEO:0000125|CALOHA:TS-2122 hp.json developmental structure|developing structure|developmental tissue http://purl.obolibrary.org/obo/UBERON_0005423 HP:0003791 biolink:PhenotypicFeature Deposits immunoreactive to beta-amyloid protein UMLS:C1853934 hp.json http://purl.obolibrary.org/obo/HP_0003791 CHEBI:17053 biolink:ChemicalSubstance L-aspartic acid The L-enantiomer of aspartic acid. YMDB:YMDB00896|DrugBank:DB00128|MetaCyc:L-ASPARTATE|ECMDB:ECMDB00191|PMID:21359215|PDBeChem:ASP|Gmelin:3333|PMID:11568288|KEGG:C00049|KNApSAcK:C00001342|Reaxys:1723530|Beilstein:1723530|CAS:56-84-8|PMID:22770225|HMDB:HMDB0000191|KEGG:D00013|Drug_Central:1550|CAS:56-84-8|CAS:56-84-8 hp.json D|(S)-2-aminobutanedioic acid|ASPARTIC ACID|2-Aminosuccinic acid|L-aspartic acid|Asp|L-Asparaginsaeure|L-Aspartic acid|(2S)-2-aminobutanedioic acid|(S)-2-aminosuccinic acid http://purl.obolibrary.org/obo/CHEBI_17053 3_STAR UBERON:0005422 biolink:AnatomicalEntity pelvic appendage apical ectodermal ridge An apical ectodermal ridge that is part of a pelvic appendage bud. ZFA:0001385|TAO:0001385|EFO:0003681|EHDAA2:0003194|VHOG:0001066|EMAPA:16892 hp.json apical ectodermal ridge hind limb|apical ectodermal ridge hindlimb|AER hindlimb|leg AER|apical ectodermal ridge pelvic fin bud|lower lmb bud apical ectodermal ridge http://purl.obolibrary.org/obo/UBERON_0005422 efo_slim|vertebrate_core UBERON:0005421 biolink:AnatomicalEntity pectoral appendage apical ectodermal ridge An apical ectodermal ridge that is part of a pectoral appendage bud. ZFA:0000085|TAO:0000085|EFO:0003487|EMAPA:16778|TAO:0000736|VHOG:0001064|EHDAA2:0000138 hp.json AER forelimb|apical fold pectoral fin|apical ectodermal ridge pectoral fin bud|aer pectoral fin|wing apical ectodermal ridge|upper limb bud apical ectodermal ridge|apical ectodermal ridge forelimb|apical ectodermal ridge pectoral fin|wing AER http://purl.obolibrary.org/obo/UBERON_0005421 efo_slim|vertebrate_core UBERON:0005409 biolink:AnatomicalEntity alimentary part of gastrointestinal system The part of the digestive system that excludes the hepatobiliary system. EMAPA:16246|EHDAA:514|MA:0000323|MESH:D041981|UMLS:C0012240|NCIT:C12378|SCTID:373871007|CALOHA:TS-0407|GAID:294|EHDAA2:0000110|EV:0100056|FMA:71132|galen:GastrointestinalTract|BTO:0000058|MESH:A03.492|VHOG:0000412 hp.json alimentary system|alimentary tract|gastroenterological system|GI tract|gastro-intestinal system|gastrointestinal (GI) tract|gastrointestinal system|gastrointestinal tract http://purl.obolibrary.org/obo/UBERON_0005409 pheno_slim UBERON:0005408 biolink:AnatomicalEntity circumventricular organ Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. MESH:D066280|MA:0002942|EMAPA:35243|FMA:84081|NLXANAT:20090312 hp.json CVO|circumventricular organ|circumventricular organ of neuraxis http://purl.obolibrary.org/obo/UBERON_0005408 pheno_slim UBERON:0005407 biolink:AnatomicalEntity sublingual ganglion The small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland. FMA:77591|MA:0002982|EHDAA:10101|EHDAA2:0001938 hp.json http://purl.obolibrary.org/obo/UBERON_0005407 pheno_slim GO:0006600 biolink:BiologicalProcess creatine metabolic process The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. hp.json creatine metabolism http://purl.obolibrary.org/obo/GO_0006600 HP:0001107 biolink:PhenotypicFeature Ocular albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. UMLS:C0078917|MSH:D016117|SNOMEDCT_US:26399002 hp.json Albinism, Ocular|Absent pigmentation in the eye http://purl.obolibrary.org/obo/HP_0001107 PATO:0001159 biolink:NamedThing concentrated A concentration quality inhering in a bearer by virtue of the bearer's exhibiting concentration. hp.json http://purl.obolibrary.org/obo/PATO_0001159 relational_slim|value_slim HP:0003764 biolink:PhenotypicFeature Nevus A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. SNOMEDCT_US:21119008|SNOMEDCT_US:51697005|SNOMEDCT_US:400096001|MSH:D009508|MSH:D009506|UMLS:C0027962|UMLS:C0027960 hp.json Nevi|Mole|Naevus|Naevi http://purl.obolibrary.org/obo/HP_0003764 PATO:0001152 biolink:NamedThing susceptible toward A quality inhering in a bearer by virtue of the bearer's having susceptibilty toward an external stimulus. hp.json susceptible http://purl.obolibrary.org/obo/PATO_0001152 disposition_slim|relational_slim|value_slim HP:0001101 biolink:PhenotypicFeature Iritis Inflammation of the iris. UMLS:C0022081|MSH:D007500|SNOMEDCT_US:65074000 hp.json Inflammation of iris http://purl.obolibrary.org/obo/HP_0001101 HP:0001102 biolink:PhenotypicFeature Angioid streaks of the fundus Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic. MSH:D000793|UMLS:C0002982 hp.json Laquer cracks of the retina|Knapp streaks|Angioid streaks of the retina|Angioid streaks|Angioid streaks, retina http://purl.obolibrary.org/obo/HP_0001102 HP:0003763 biolink:PhenotypicFeature Bruxism Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake. MSH:D002012|SNOMEDCT_US:90207007|UMLS:C0006325|SNOMEDCT_US:191983006 hp.json Teeth grinding http://purl.obolibrary.org/obo/HP_0003763 HP:0003762 biolink:PhenotypicFeature Uterus didelphys A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. UMLS:C0266393|SNOMEDCT_US:22504001|UMLS:C0152240|SNOMEDCT_US:15545001 hp.json Double uterus http://purl.obolibrary.org/obo/HP_0003762 HP:0001100 biolink:PhenotypicFeature Heterochromia iridis Heterochromia iridis is a difference in the color of the iris in the two eyes. UMLS:C0423318|SNOMEDCT_US:247033008|MSH:C538115 hp.json Different coloured eyes|Different colored eyes|Heterochromia irides http://purl.obolibrary.org/obo/HP_0001100 hposlim_core HP:0003761 biolink:PhenotypicFeature Calcinosis Formation of calcium deposits in any soft tissue. MSH:D002114|SNOMEDCT_US:6595006|UMLS:C0006663 hp.json Calcium buildup in soft tissues of body http://purl.obolibrary.org/obo/HP_0003761 HP:0001105 biolink:PhenotypicFeature Retinal atrophy Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. UMLS:C0521694|SNOMEDCT_US:95695004|SNOMEDCT_US:405722004|UMLS:C0035304|MSH:D012162 hp.json http://purl.obolibrary.org/obo/HP_0001105 HP:0003768 biolink:PhenotypicFeature Periodic paralysis Episodes of muscle weakness. SNOMEDCT_US:198030008|UMLS:C1279412 hp.json Episodic paralysis http://purl.obolibrary.org/obo/HP_0003768 HP:0001106 biolink:PhenotypicFeature Periorbital hyperpigmentation Increased pigmentation of the skin in the region surrounding the orbit of the eye. UMLS:C1844606 hp.json Dark circles under the eyes|Idiopathic cutaneous hyperchromia at the orbital region|Dark circles around the eyes|Pigmentation around the eyes|Periorbital melanosis|Darkening around the eyes|Infraorbital pigmentation http://purl.obolibrary.org/obo/HP_0001106 PATO:0001154 biolink:NamedThing elongated A quality inhering in a bearer by virtue of the bearer's length being notably higher than its width. hp.json http://purl.obolibrary.org/obo/PATO_0001154 value_slim HP:0001103 biolink:PhenotypicFeature Abnormal macular morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. UMLS:C0730362|SNOMEDCT_US:312999006 hp.json Macula abnormality|Macular abnormality|Abnormality of the macula http://purl.obolibrary.org/obo/HP_0001103 hposlim_core HP:0001104 biolink:PhenotypicFeature Macular hypoplasia Underdevelopment of the macula lutea. UMLS:C1849412 hp.json http://purl.obolibrary.org/obo/HP_0001104 hposlim_core HP:0003765 biolink:PhenotypicFeature Psoriasiform dermatitis A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). SNOMEDCT_US:9014002|MSH:D011565|UMLS:C0033860 hp.json Psoriasis http://purl.obolibrary.org/obo/HP_0003765 UBERON:0005417 biolink:AnatomicalEntity forelimb bud A limb bud that develops into a forelimb. EHDAA:1699|RETIRED_EHDAA2:0003198|BTO:0001645|XAO:0003065|EMAPA:16406|FMA:296782|AAO:0010381|MIAA:0000065 hp.json limb bud - forelimb|anterior limb bud|upper limb bud|arm bud|wing bud http://purl.obolibrary.org/obo/UBERON_0005417 pheno_slim UBERON:0005413 biolink:AnatomicalEntity spinocerebellar tract This tract conveys interoceptive, proprioceptive, and exteroceptive information from the body's internal organs, and from the trunk, extremities, and neck region to the Cerebellum. MBA:85|NLX:60355|BAMS:sc|DHBA:12749|MESH:D020824|GAID:733|NLXANAT:1005036 hp.json http://purl.obolibrary.org/obo/UBERON_0005413 pheno_slim HP:0003760 biolink:PhenotypicFeature Percussion-induced rapid rolling muscle contractions Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. UMLS:C4280804 hp.json http://purl.obolibrary.org/obo/HP_0003760 UBERON:0005412 biolink:AnatomicalEntity optic fissure Groove that is in the developing ventral optic cup and through which blood vessels pass to the enclosed mesenchyme[ZFA]. a ventral fissure in the developing optic cup through which blood vessels pass to the enclosed mesenchyme[Free online medical dictionary]. XAO:0000474|EMAPA:17166|AAO:0011026|ZFA:0001284|VHOG:0000655|TAO:0001284|RETIRED_EHDAA2:0000249|MA:0001305|EHDAA2:0001319|EHDAA:4759 hp.json ventral choroidal fissure|optic fissures|choroid fissure - optic fissure|optic stalk fissure|choroid fissure http://purl.obolibrary.org/obo/UBERON_0005412 pheno_slim|vertebrate_core CHEBI:17089 biolink:ChemicalSubstance glycoprotein A compound in which a carbohydrate component is covalently bound to a protein component. KEGG:C00326 hp.json glycoproteine|glycoproteins|a glycoprotein|glycoproteines|Glycoprotein|glicoproteina|Glykoprotein|Glykoproteine|glicoproteinas http://purl.obolibrary.org/obo/CHEBI_17089 3_STAR UBERON:0005411 biolink:AnatomicalEntity bony otic capsule The cartilage or bony capsule surrounding the inner ear mechanism. EMAPA:17596|MA:0000252|EMAPA:37466 hp.json otic capsule bone http://purl.obolibrary.org/obo/UBERON_0005411 pheno_slim UBERON:0005410 biolink:AnatomicalEntity cartilaginous otic capsule An otic capsule endochondral element that is composed primarily of cartilage tissue. EMAPA:17596|TAO:0001500|EHDAA2:0001333|EMAPA:37467|EMAPA:18803|EHDAA:4704|ZFA:0001500 hp.json auditory capsule|otic capsule cartilage element http://purl.obolibrary.org/obo/UBERON_0005410 vertebrate_core CHEBI:17087 biolink:ChemicalSubstance ketone A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). Wikipedia:Ketone|KEGG:C01450 hp.json R-CO-R'|a ketone|Keton|ketones|Ketone|ketones|cetone http://purl.obolibrary.org/obo/CHEBI_17087 3_STAR CHEBI:17084 biolink:ChemicalSubstance 2-hydroxyglutaric acid A 2-hydroxydicarboxylic acid that is glutaric acid in which one hydrogen alpha- to a carboxylic acid group is substituted by a hydroxy group. KEGG:C02630|Wikipedia:Alpha-Hydroxyglutaric_acid|PMID:17439666|Beilstein:1723805|Reaxys:1723805|CAS:2889-31-8|MetaCyc:2-HYDROXYGLUTARIC_ACID|CAS:2889-31-8 hp.json 2-hydroxypentanedioic acid|2-hydroxyglutaric acid|alpha-hydroxyglutaric acid http://purl.obolibrary.org/obo/CHEBI_17084 3_STAR HP:0001118 biolink:PhenotypicFeature Juvenile cataract A type of cataract that is not apparent at birth but that arises in childhood or adolescence. UMLS:C0302254|SNOMEDCT_US:399336001 hp.json http://purl.obolibrary.org/obo/HP_0001118 HP:0001119 biolink:PhenotypicFeature Keratoglobus Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. UMLS:C3887531 hp.json http://purl.obolibrary.org/obo/HP_0001119 hposlim_core HP:0001112 biolink:PhenotypicFeature Leber optic atrophy Degeneration of retinal ganglion cells and their axons. UMLS:C0917796|SNOMEDCT_US:58610003|MSH:D029242 hp.json Leber optic degeneration|Leber optic atrophy features http://purl.obolibrary.org/obo/HP_0001112 PATO:0001163 biolink:NamedThing decreased concentration A concentration which is lower relative to the normal or average. hp.json low concentration http://purl.obolibrary.org/obo/PATO_0001163 relational_slim|value_slim HP:0003774 biolink:PhenotypicFeature Stage 5 chronic kidney disease A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. SNOMEDCT_US:433146000|UMLS:C2316810 hp.json Renal failure, endstage|End-stage renal disease|End stage renal disease|End-stage renal failure|End stage renal failure|Chronic renal failure|Stage 5 chronic kidney disease http://purl.obolibrary.org/obo/HP_0003774 PATO:0001164 biolink:NamedThing dense A physical quality which inheres in a bearer by virtue of the bearer's exhibiting density. hp.json http://purl.obolibrary.org/obo/PATO_0001164 value_slim|mpath_slim HP:0001113 biolink:PhenotypicFeature obsolete Early cataracts hp.json http://purl.obolibrary.org/obo/HP_0001113 PATO:0001162 biolink:NamedThing increased concentration A concentration which is higher relative to the normal or average. hp.json high concentration http://purl.obolibrary.org/obo/PATO_0001162 relational_slim|value_slim CHEBI:32695 biolink:ChemicalSubstance argininate Gmelin:603497 hp.json 2-amino-5-guanidinopentanoate|arg(-)|2-amino-5-(carbamimidamido)pentanoate|argininate|arginine anion http://purl.obolibrary.org/obo/CHEBI_32695 3_STAR HP:0001116 biolink:PhenotypicFeature Macular coloboma A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. MSH:C535968|UMLS:C1852767 hp.json Coloboma of the macula http://purl.obolibrary.org/obo/HP_0001116 CHEBI:32696 biolink:ChemicalSubstance argininium(1+) Gmelin:1345599 hp.json argininium(1+)|H2arg(+)|2-ammonio-5-guanidiniopentanoate|arginine|argininium|arginine monocation http://purl.obolibrary.org/obo/CHEBI_32696 3_STAR PATO:0001167 biolink:NamedThing damaged A structural quality inhering in a bearer by virtue of the bearer being harmed or injured or spoiled, such that its functionality is impaired. hp.json http://purl.obolibrary.org/obo/PATO_0001167 value_slim HP:0003779 biolink:PhenotypicFeature Antegonial notching of mandible UMLS:C1844509 hp.json Large antegonial notch of mandible|Deep antegonial notch of mandible http://purl.obolibrary.org/obo/HP_0003779 CHEBI:32697 biolink:ChemicalSubstance argininium(2+) hp.json argininium(2+)|(1-carboxy-4-guanidiniobutyl)ammonium|argininediium|H3arg(2+)|arginine dication http://purl.obolibrary.org/obo/CHEBI_32697 3_STAR HP:0003778 biolink:PhenotypicFeature Short mandibular rami UMLS:C1841648|UMLS:C4280545 hp.json Underdeveloped mandibular rami|Decreased height of mandibular ramus|Short body and ramus of mandible|Short mandibular ramus|Decreased size of mandibular ramus http://purl.obolibrary.org/obo/HP_0003778 HP:0001117 biolink:PhenotypicFeature Sudden loss of visual acuity Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. UMLS:C4025803|UMLS:C4072828|UMLS:C4280600 hp.json Sudden decrease in vision|Sudden central visual loss http://purl.obolibrary.org/obo/HP_0001117 HP:0001114 biolink:PhenotypicFeature Xanthelasma The presence of xanthomata in the skin of the eyelid. SNOMEDCT_US:6400008|MSH:D014973|UMLS:C4280602|UMLS:C0302314|UMLS:C4280601|SNOMEDCT_US:75594004|UMLS:C0155210|SNOMEDCT_US:63103006 hp.json Xanthelasma of eyelid|Xanthoma|Xanthelasma of periocular region|Fatty deposits on eyelids|Fatty deposits in skin around the eyes|Xanthoma of eyelid|Xanthoma of periocular region|Xanthelasma palpebrarum http://purl.obolibrary.org/obo/HP_0001114 HP:0003777 biolink:PhenotypicFeature Pili torti Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. MSH:C562485|SNOMEDCT_US:17170005|UMLS:C0263491 hp.json Flattened and twisted hair http://purl.obolibrary.org/obo/HP_0003777 hposlim_core HP:0001115 biolink:PhenotypicFeature Posterior polar cataract A polar cataract that affects the posterior pole of the lens. UMLS:C1850191 hp.json Polar cataract, posterior http://purl.obolibrary.org/obo/HP_0001115 UBERON:0005404 biolink:AnatomicalEntity frontonasal suture A suture between frontal and nasal bones. MA:0002973|EMAPA:35359|FMA:52948 hp.json articulation of the nasal bone with frontal bone|frontonasal suture of skull http://purl.obolibrary.org/obo/UBERON_0005404 pheno_slim UBERON:0005403 biolink:AnatomicalEntity ventral striatum A composite structure of the telencephalon that is defined in the striatopallidal system by connectivity and neurochemical staining. It includes the nucleus accumbens, the most ventral portions of the caudate nucleus and the putamen, the rostrolateral portion of the anterior perforated substance, the islands of Calleja and a rostral subcommissural portion of substantia innominata. The boundary between the ventral striatum and dorsal striatum is indistinct in sections stained for Nissl substance (Heimer-1995; adapted from Brain Info). EFO:0001936|BAMS:Ventral_striatum|PBA:10091|MA:0002972|BAMS:STRv|BAMS:StrV|FMA:77614|BTO:0004702|NLX:57107|DMBA:15858|EMAPA:36576|MESH:D066328|MBA:493 hp.json striatum ventrale|striatum ventral region http://purl.obolibrary.org/obo/UBERON_0005403 pheno_slim|efo_slim HP:0003771 biolink:PhenotypicFeature Pulp calcification Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. SNOMEDCT_US:57602001|UMLS:C1527284|MSH:D003784|UMLS:C4280546|UMLS:C4280259 hp.json True pulp stones|Pulpoliths|Pulp denticles|Pulp stones|Pulp calcifications|False denticles|False pulp stones|True denticles http://purl.obolibrary.org/obo/HP_0003771 UBERON:0005402 biolink:AnatomicalEntity philtrum The vertical groove found on the median line of the upper lip, extending to the nose. MA:0001577|FMA:59819|EHDAA:9280|EMAPA:17926|EHDAA2:0001462|VHOG:0000862 hp.json philtral region of upper lip|medial cleft|infranasal depression|lip philtrum http://purl.obolibrary.org/obo/UBERON_0005402 pheno_slim UBERON:0005401 biolink:AnatomicalEntity cerebral hemisphere gray matter A gray matter that is part of a cerebral hemisphere. BTO:0000823|FMA:61821|CALOHA:TS-2361|EMAPA:37477|MA:0000944 hp.json cerebral hemisphere grey matter|cerebral gray matter|cerebral grey matter http://purl.obolibrary.org/obo/UBERON_0005401 UBERON:0005400 biolink:AnatomicalEntity telencephalon arachnoid mater An arachnoid mater that is part of a telencephalon. MA:0000980|EMAPA:17775 hp.json telencephalon arachnoid matter http://purl.obolibrary.org/obo/UBERON_0005400 GO:0016192 biolink:BiologicalProcess vesicle-mediated transport A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. hp.json vesicle transport|protein sorting along secretory pathway|vesicular transport|vesicle trafficking|nonselective vesicle transport http://purl.obolibrary.org/obo/GO_0016192 goslim_candida|goslim_generic|goslim_pombe|goslim_pir|goslim_drosophila|goslim_aspergillus|goslim_chembl PATO:0001579 biolink:NamedThing contractility A physical quality that is the ability to contract or shrink. hp.json http://purl.obolibrary.org/obo/PATO_0001579 scalar_slim|disposition_slim|attribute_slim PATO:0001576 biolink:NamedThing increased pressure A pressure which is relatively high. hp.json high pressure http://purl.obolibrary.org/obo/PATO_0001576 value_slim PATO:0001571 biolink:NamedThing dilated A size quality inhering in a bearer by virtue of the bearer's being made wider or larger in all dimensions. hp.json http://purl.obolibrary.org/obo/PATO_0001571 value_slim|mpath_slim PATO:0001575 biolink:NamedThing decreased pressure A pressure which is relatively low. hp.json low pressure http://purl.obolibrary.org/obo/PATO_0001575 value_slim PATO:0001581 biolink:NamedThing decreased contractility A contractility which is relatively low. hp.json low contractility http://purl.obolibrary.org/obo/PATO_0001581 disposition_slim|value_slim PATO:0001580 biolink:NamedThing increased contractility A contractility which is relatively high. hp.json high contractility http://purl.obolibrary.org/obo/PATO_0001580 disposition_slim|value_slim PATO:0001598 biolink:NamedThing protruding A quality inhering in a bearer by virtue of the bearer's extending out above or beyond a surface or boundary. hp.json protruding|relational protruding quality http://purl.obolibrary.org/obo/PATO_0001598 value_slim PATO:0001599 biolink:NamedThing rotated An oriented quality inhering in a bearer by virtue of the bearer's being relocated around an axis. hp.json rotation http://purl.obolibrary.org/obo/PATO_0001599 value_slim|mpath_slim PATO:0001592 biolink:NamedThing increased curvature A curvature which is relatively high. hp.json http://purl.obolibrary.org/obo/PATO_0001592 value_slim PATO:0001593 biolink:NamedThing decreased curvature A curvature which is relatively low. hp.json http://purl.obolibrary.org/obo/PATO_0001593 value_slim PATO:0001590 biolink:NamedThing overlap with A structural quality inhering in a bearer by virtue of the bearer's coinciding spatially, partially or wholly with another entity. hp.json overlap http://purl.obolibrary.org/obo/PATO_0001590 relational_slim|value_slim PATO:0001591 biolink:NamedThing curvature A surface shape quality inhering in a bearer by virtue of the bearer's exhibiting a degree of bending. hp.json http://purl.obolibrary.org/obo/PATO_0001591 attribute_slim PATO:0001596 biolink:NamedThing increased depth A depth quality which is relatively high. hp.json deep http://purl.obolibrary.org/obo/PATO_0001596 value_slim PATO:0001597 biolink:NamedThing everted An oriented quality inhering in a bearer by virtue of the bearer's being turned outward in placement. hp.json http://purl.obolibrary.org/obo/PATO_0001597 value_slim|mpath_slim PATO:0001594 biolink:NamedThing arched A concave quality inhering in a bearer by virtue of the bearer's forming or resembling an arch. hp.json http://purl.obolibrary.org/obo/PATO_0001594 cell_quality PATO:0001595 biolink:NamedThing depth A 1-D extent quality inhering in a bearer by virtue of the bearer's downward or backward or inward dimension. hp.json http://purl.obolibrary.org/obo/PATO_0001595 scalar_slim|attribute_slim GO:0100001 biolink:BiologicalProcess regulation of skeletal muscle contraction by action potential Any action potential process that regulates skeletal muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_0100001 PATO:0001545 biolink:NamedThing inflexible A physical quality inhering in a bearer by virtue of the bearer's inability of being turned, bowed, or twisted without breaking. hp.json stiff|stiffness http://purl.obolibrary.org/obo/PATO_0001545 disposition_slim|value_slim PATO:0001546 biolink:NamedThing quality of a solid A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable. hp.json solidity http://purl.obolibrary.org/obo/PATO_0001546 attribute_slim PATO:0001543 biolink:NamedThing flexibility A physical quality inhering in a bearer by virtue of the bearer's disposition to being turned, bowed, or twisted without breaking. hp.json http://purl.obolibrary.org/obo/PATO_0001543 disposition_slim|attribute_slim PATO:0001544 biolink:NamedThing flexible hp.json http://purl.obolibrary.org/obo/PATO_0001544 PATO:0001549 biolink:NamedThing increased sensitivity toward A sensitivity toward an external stimulus which is higher than normal/average. hp.json high sensitivity toward|increased sensitivity http://purl.obolibrary.org/obo/PATO_0001549 value_slim|disposition_slim|relational_slim PATO:0001547 biolink:NamedThing quality of a gas A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape. hp.json gaseous http://purl.obolibrary.org/obo/PATO_0001547 attribute_slim PATO:0001548 biolink:NamedThing quality of a liquid A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. hp.json liquidity http://purl.obolibrary.org/obo/PATO_0001548 attribute_slim GO:0090138 biolink:BiologicalProcess regulation of actin cytoskeleton organization by cell-cell adhesion Any cell-cell adhesion process that modulates the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. hp.json regulation of actin cytoskeleton organisation by cell-cell adhesion http://purl.obolibrary.org/obo/GO_0090138 GO:0090139 biolink:BiologicalProcess mitochondrial chromosome packaging A process in which mitochondrial chromosomal DNA and associated proteins organize into a compact, orderly structure. hp.json mitochondrial DNA packaging http://purl.obolibrary.org/obo/GO_0090139 GO:0090132 biolink:BiologicalProcess epithelium migration The process in which the population of cells that make up an epithelium undergo directed movement. hp.json http://purl.obolibrary.org/obo/GO_0090132 GO:0090130 biolink:BiologicalProcess tissue migration The process in which the population of cells that make up a tissue undergo directed movement. hp.json http://purl.obolibrary.org/obo/GO_0090130 CHEBI:138675 biolink:ChemicalSubstance gas molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). Wikipedia:https://en.wikipedia.org/wiki/Gas hp.json gaseous molecular entity|gaseous molecular entities|gas molecular entities http://purl.obolibrary.org/obo/CHEBI_138675 3_STAR PATO:0001555 biolink:NamedThing has number of The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts. OBO_REL:has_part hp.json number|mereological quality|has or lacks parts of type|number of|extra or missing physical or functional parts|cardinality http://purl.obolibrary.org/obo/PATO_0001555 relational_slim|attribute_slim PATO:0001558 biolink:NamedThing lacking processual parts A quality of a process inhering in a bearer by virtue of the bearer's lacking a processual part as specified by the additional entity. hp.json http://purl.obolibrary.org/obo/PATO_0001558 relational_slim|value_slim PATO:0001559 biolink:NamedThing having extra function A functionality quality which is held by the bearer when the latter is able to perform additional or different function(s). hp.json having supernumerary functions http://purl.obolibrary.org/obo/PATO_0001559 disposition_slim|value_slim GO:0016125 biolink:BiologicalProcess sterol metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. hp.json sterol metabolism http://purl.obolibrary.org/obo/GO_0016125 PATO:0001552 biolink:NamedThing decreased sensitivity of a process A sensitivity of a process which is lower than normal or average. hp.json low sensitivity of occurrent|decreased sensitivity of occurrent http://purl.obolibrary.org/obo/PATO_0001552 relational_slim|value_slim PATO:0001550 biolink:NamedThing decreased sensitivity toward A sensitivity toward an external stimulus which is lower than normal/average. hp.json decreased sensitivity|low sensitivity toward http://purl.obolibrary.org/obo/PATO_0001550 disposition_slim|relational_slim|value_slim PATO:0001551 biolink:NamedThing increased sensitivity of a process A sensitivity of a process which is higher than normal or average. hp.json high sensitivity of occurrent|increased sensitivity of occurrent http://purl.obolibrary.org/obo/PATO_0001551 relational_slim|value_slim PATO:0001563 biolink:NamedThing increased mass A mass which is higher than normal or average. hp.json high mass|large mass http://purl.obolibrary.org/obo/PATO_0001563 value_slim GO:0016137 biolink:BiologicalProcess glycoside metabolic process The chemical reactions and pathways involving glycosides, compounds in which a glycosyl group is substituted into a hydroxyl, thiol or selenol group in another compound. hp.json O-glycoside metabolic process|glycoside metabolism|O-glycoside metabolism http://purl.obolibrary.org/obo/GO_0016137 PATO:0001564 biolink:NamedThing extra or missing processual parts A quality of a process inhering in a bearer by virtue of the bearer's processual parts. hp.json http://purl.obolibrary.org/obo/PATO_0001564 relational_slim PATO:0001561 biolink:NamedThing having extra processual parts A quality of a process inhering in a bearer by virtue of the bearer's having additional processual parts. hp.json having supernumerary processual parts http://purl.obolibrary.org/obo/PATO_0001561 relational_slim|value_slim PATO:0001562 biolink:NamedThing decreased mass A mass which is lower than normal or average. hp.json low mass|small mass http://purl.obolibrary.org/obo/PATO_0001562 value_slim UBERON:0005076 biolink:AnatomicalEntity hindbrain-spinal cord boundary An anatomical boundary that adjacent_to a hindbrain and adjacent_to a spinal cord. hp.json hindbrain-spinal cord boundary region http://purl.obolibrary.org/obo/UBERON_0005076 UBERON:0005075 biolink:AnatomicalEntity forebrain-midbrain boundary An anatomical boundary that adjacent_to a forebrain and adjacent_to a midbrain. ZFA:0001367|TAO:0001367|EMAPA:36449 hp.json diencephalic-mesencephalic boundary|forebrain midbrain boundary|forebrain-midbrain boundary region http://purl.obolibrary.org/obo/UBERON_0005075 PATO:0001509 biolink:NamedThing functionality A quality of a single physical entity that arises by virtue of whether the bearer exhibits the ability to perform a regular function(s). hp.json http://purl.obolibrary.org/obo/PATO_0001509 scalar_slim|disposition_slim|attribute_slim PATO:0001507 biolink:NamedThing disrupted A quality of a single process inhering in a bearer by virtue of the bearer's being interrupted of its normal course. hp.json http://purl.obolibrary.org/obo/PATO_0001507 value_slim|mpath_slim CHEBI:81568 biolink:ChemicalSubstance Luteinizing hormone KEGG:C18183|CAS:9002-67-9 hp.json ICSH|Interstitial cell stimulating hormone|LH http://purl.obolibrary.org/obo/CHEBI_81568 2_STAR PATO:0001500 biolink:NamedThing tapered A shape quality inhering in a bearer by virtue of the bearer's being gradually narrower or thinner toward one end. hp.json taper http://purl.obolibrary.org/obo/PATO_0001500 value_slim|cell_quality PATO:0001505 biolink:NamedThing separated from A structural quality inhering in a bearer by virtue of the bearer's not being in contact with another entity, or of no longer being connected or joined with another entity. hp.json splitted from|divided_from|discontiguous http://purl.obolibrary.org/obo/PATO_0001505 relational_slim|value_slim UBERON:0005068 biolink:AnatomicalEntity neural rod A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. ZFA:0000133|TAO:0000133|EFO:0003498 hp.json neural tube rod http://purl.obolibrary.org/obo/UBERON_0005068 efo_slim UBERON:0005066 biolink:AnatomicalEntity right ventricular trabecular myocardium hp.json http://purl.obolibrary.org/obo/UBERON_0005066 UBERON:0005064 biolink:AnatomicalEntity left ventricular trabecular myocardium hp.json http://purl.obolibrary.org/obo/UBERON_0005064 UBERON:0005062 biolink:AnatomicalEntity neural fold One of the two elevated edges of the neural groove[GO,MP]. FMA:295618|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1364|Wikipedia:Neural_fold|SCTID:361461009|EHDAA2:0001249|NCIT:C34223|XAO:0004087|UMLS:C0814993 hp.json medullary fold http://purl.obolibrary.org/obo/UBERON_0005062 pheno_slim UBERON:0005061 biolink:AnatomicalEntity neural groove The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. AAO:0011071|EMAPA:35594|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1363|NCIT:C34224|FMA:295624|SCTID:361463007|UMLS:C0814992|Wikipedia:Neural_groove|XAO:0000248 hp.json http://purl.obolibrary.org/obo/UBERON_0005061 CHEBI:20612 biolink:ChemicalSubstance 5-methyltetrahydrofolate A group of heterocyclic compounds based on the 5-methyl-5,6,7,8-tetrahydropteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units. hp.json 5-methyltetrahydrofolates http://purl.obolibrary.org/obo/CHEBI_20612 3_STAR PATO:0001512 biolink:NamedThing punctate A pattern inhering in a surface by virtue of the bearer's being marked by the presence of dots, punctures, points or pits. hp.json spotted|dotted|stippled http://purl.obolibrary.org/obo/PATO_0001512 value_slim|mpath_slim PATO:0001510 biolink:NamedThing functional A functionality quality held by the bearer when the latter is able to perform a regular function(s). hp.json http://purl.obolibrary.org/obo/PATO_0001510 disposition_slim|value_slim PATO:0001511 biolink:NamedThing non-functional A disfunctional quality held by the bearer when the latter is unable to perform a regular function(s). hp.json failure|defective|disfunctional|functional failure http://purl.obolibrary.org/obo/PATO_0001511 disposition_slim|value_slim UBERON:0005057 biolink:AnatomicalEntity immune organ An organ that is part of a immune system [Automatically generated definition]. hp.json immune system organ http://purl.obolibrary.org/obo/UBERON_0005057 organ_slim|pheno_slim UBERON:0005056 biolink:AnatomicalEntity external female genitalia An external genitalia that is part of a female reproductive system [Automatically generated definition]. BTO:0003100|FMA:45649|SCTID:362234008|EMAPA:30984|galen:FemaleExternalGenitalia hp.json female external genitalia|external genitalia of female reproductive system|external female genital organ|organa genitalia feminina externa http://purl.obolibrary.org/obo/UBERON_0005056 organ_slim|pheno_slim UBERON:0005055 biolink:AnatomicalEntity zone of long bone An organ part that is part of a long bone [Automatically generated definition]. FMA:24008 hp.json long bone zone http://purl.obolibrary.org/obo/UBERON_0005055 uberon_slim UBERON:0005051 biolink:AnatomicalEntity mediastinum testis The mediastinum testis is a network of fibrous connective tissue that extends from the upper to near the lower extremity of the testis, and is wider above than below. From its front and sides numerous imperfect septa (trabeculæ) are given off, which radiate toward the surface of the organ, and are attached to the tunica albuginea. They divide the interior of the organ into a number of incomplete spaces, called lobules. These are somewhat cone-shaped, being broad at their bases at the surface of the gland, and becoming narrower as they converge to the mediastinum. The mediastinum supports the rete testis and blood vessels of the testis in their passage to and from the substance of the gland[WP]. FMA:19812|EMAPA:18331|MA:0003240 hp.json body of highmore|hilum of testicle|testis mediastinum|mediastinum of testis http://purl.obolibrary.org/obo/UBERON_0005051 UBERON:0005058 biolink:AnatomicalEntity hemolymphoid system gland A gland that is part of a hemolymphoid system [Automatically generated definition]. EMAPA:18766|MA:0002962 hp.json haemolymphoid system gland|hemopoietic or lymphoid gland|hemopoietic or lymphoid gland|hemopoietic or lymphoid organ http://purl.obolibrary.org/obo/UBERON_0005058 organ_slim UBERON:0005046 biolink:AnatomicalEntity mucosa of hard palate A mucosa that is part of a hard palate [Automatically generated definition]. FMA:59783 hp.json hard palate mucosa|organ mucosa of hard palate|mucous membrane of hard palate|hard palate mucous membrane http://purl.obolibrary.org/obo/UBERON_0005046 UBERON:0005045 biolink:AnatomicalEntity mucosa of ethmoidal sinus A mucosa that is part of a ethmoid sinus [Automatically generated definition]. FMA:59776 hp.json ethmoid sinus organ mucosa|organ mucosa of ethmoid sinus|ethmoid sinus mucosa of organ|mucous membrane of ethmoid sinus|mucosa of ethmoid sinus|mucosa of organ of ethmoid sinus|ethmoid sinus mucous membrane|ethmoidal sinus mucosa|ethmoid sinus mucosa http://purl.obolibrary.org/obo/UBERON_0005045 UBERON:0005044 biolink:AnatomicalEntity mucosa of pharyngotympanic tube A mucosa that is part of a pharyngotympanic tube [Automatically generated definition]. FMA:60109 hp.json mucous membrane of pharyngotympanic tube|pharyngotympanic tube mucosa of organ|organ mucosa of pharyngotympanic tube|mucosa of organ of internal auditory tube|tunica mucosa (tuba auditoria)|pharyngotympanic tube mucosa|pharyngotympanic tube organ mucosa|mucosa of internal auditory tube|tunica mucosa (tuba auditiva)|mucous membrane of internal auditory tube|mucosa of organ of pharyngotympanic tube|organ mucosa of internal auditory tube|pharyngotympanic tube mucous membrane|mucous membrane of auditory tube|auditory tube mucosa of organ|organ mucosa of auditory tube|mucosa of auditory tube|internal auditory tube mucosa of organ|internal auditory tube mucosa|mucuous membrane of eustachian tube|internal auditory tube organ mucosa|auditory tube mucous membrane|mucosa of organ of auditory tube|auditory tube mucosa|auditory tube organ mucosa|mucuous membrane of pharyngotympanic tube|internal auditory tube mucous membrane http://purl.obolibrary.org/obo/UBERON_0005044 UBERON:0005043 biolink:AnatomicalEntity mucosa of nasolacrimal duct A mucosa that is part of a nasolacrimal duct [Automatically generated definition]. FMA:59664 hp.json nasolacrimal duct mucosa|nasolacrimal duct organ mucosa|mucosa of organ of nasolacrimal duct|nasolacrimal duct mucous membrane|nasolacrimal ductal mucosa|mucous membrane of nasolacrimal duct|nasolacrimal duct mucosa of organ|organ mucosa of nasolacrimal duct http://purl.obolibrary.org/obo/UBERON_0005043 UBERON:0005042 biolink:AnatomicalEntity inner epithelial layer of tympanic membrane A portion of the tympanic cavity epithelium which makes up the outer (cuticular) layer of the tympanic membrane. FMA:56844 hp.json mucosa of tympanic membrane|mucous layer of tympanic membrane|tympanic membrane external middle ear cavity epithelial component|tympanic membrane mucosa|mucous stratum of tympanic membrane http://purl.obolibrary.org/obo/UBERON_0005042 UBERON:0005040 biolink:AnatomicalEntity mucosa of terminal bronchiole A mucosa that is part of a terminal bronchiole [Automatically generated definition]. FMA:263232 hp.json mucosa of bronchiolus terminalis|mucous membrane of bronchiolus terminalis|organ mucosa of bronchiolus terminalis|organ mucosa of terminal bronchiole|mucous membrane of terminal bronchiole|terminal bronchiole mucosa of organ|bronchiolus terminalis mucosa|bronchiolus terminalis mucosa of organ|terminal bronchiole mucosa|bronchiolus terminalis organ mucosa|terminal bronchiole organ mucosa|mucosa of organ of terminal bronchiole|terminal bronchiole mucous membrane|bronchiolus terminalis mucous membrane|mucosa of organ of bronchiolus terminalis http://purl.obolibrary.org/obo/UBERON_0005040 UBERON:0005049 biolink:AnatomicalEntity mucosa of infundibulum of uterine tube A mucosa that is part of a uterine tube infundibulum [Automatically generated definition]. FMA:18357 hp.json mucosa of uterine tube infundibulum|mucosa of infundibulum of fallopian tube|uterine tube infundibulum mucous membrane|mucosa of organ of uterine tube infundibulum|mucosa of infundibulum of oviduct|uterine tube infundibulum mucosa|uterine tube infundibulum organ mucosa|mucous membrane of uterine tube infundibulum|organ mucosa of uterine tube infundibulum|uterine tube infundibulum mucosa of organ http://purl.obolibrary.org/obo/UBERON_0005049 UBERON:0005048 biolink:AnatomicalEntity mucosa of uterine tube A mucosa that is part of a fallopian tube [Automatically generated definition]. FMA:18319 hp.json fallopian tube organ mucosa|mucosa of oviduct|uterine tube mucosa of organ|mucosa of fallopian tube|mucous membrane of fallopian tube|organ mucosa of fallopian tube|uterine tube mucosa|uterine tube organ mucosa|uterine tube mucous membrane|fallopian tube mucosa of organ|mucosa of organ of uterine tube|uterine tubal mucosa|tunica mucosa tubae uterinae|fallopian tube mucous membrane|organ mucosa of uterine tube|mucous membrane of uterine tube|mucosa of organ of fallopian tube|fallopian tube mucosa http://purl.obolibrary.org/obo/UBERON_0005048 human_reference_atlas UBERON:0005047 biolink:AnatomicalEntity mucosa of vocal fold A mucosa that is part of a vocal cord [Automatically generated definition]. FMA:64017 hp.json true vocal cord organ mucosa|mucosa of vocal cord|mucous membrane of vocal cord|organ mucosa of vocal cord|mucosa of glottis|true vocal cord mucosa of organ|organ mucosa of true vocal cord|mucous membrane of true vocal cord|mucosa of true vocal cord|vocal fold mucosa|vocal cord mucosa of organ|true vocal cord mucous membrane|mucosa of organ of true vocal cord|vocal cord mucous membrane|vocal cord mucosa|mucosa of organ of vocal cord|vocal cord organ mucosa|true vocal cord mucosa http://purl.obolibrary.org/obo/UBERON_0005047 NCBITaxon:7742 biolink:OrganismalEntity Vertebrata GC_ID:1 hp.json Vertebrata|vertebrates|vertebrates http://purl.obolibrary.org/obo/NCBITaxon_7742 PR:000017477 biolink:Protein xanthine dehydrogenase/oxidase A protein that is a translation product of the human XDH gene or a 1:1 ortholog thereof. IUPHARobj:2646 hp.json XDH|XDHA http://purl.obolibrary.org/obo/PR_000017477 UBERON:0005092 biolink:AnatomicalEntity right horn of sinus venosus EHDAA:484|VHOG:0000489|EMAPA:16239|FMA:70318|EHDAA2:0001841 hp.json sinus venosus right horn http://purl.obolibrary.org/obo/UBERON_0005092 UBERON:0005090 biolink:AnatomicalEntity muscle structure Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. EMAPA:32715|FMA:30316 hp.json muscle element|musculus|muscle http://purl.obolibrary.org/obo/UBERON_0005090 UBERON:0005095 biolink:AnatomicalEntity kidney rudiment hp.json kidney anlage http://purl.obolibrary.org/obo/UBERON_0005095 NCBITaxon:7711 biolink:OrganismalEntity Chordata GC_ID:1 hp.json chordates|chordates http://purl.obolibrary.org/obo/NCBITaxon_7711 UBERON:0005082 biolink:AnatomicalEntity tube lumen A hole in a tube[GO]. RETIRED_EHDAA2:0003078|AEO:0000078|EHDAA2:0004618 hp.json http://purl.obolibrary.org/obo/UBERON_0005082 UBERON:0005081 biolink:AnatomicalEntity ureter ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005081 UBERON:0005080 biolink:AnatomicalEntity metanephric ureteric bud The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005080 UBERON:0005089 biolink:AnatomicalEntity sweat gland placode An sweat gland placode is a thickening of the ectoderm that will give rise to the sweat gland bud[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005089 UBERON:0005088 biolink:AnatomicalEntity sebaceous gland placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005088 UBERON:0005087 biolink:AnatomicalEntity tooth placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. ZFA:0001153|BTO:0001511|TAO:0001153 hp.json tooth primordium|dental anlage|odontogenic placode|dental primordium|tooth anlage|tooth germ|dental placode http://purl.obolibrary.org/obo/UBERON_0005087 UBERON:0005086 biolink:AnatomicalEntity hair follicle placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. EMAPA:36479 hp.json hair gem|hair placode|hair germ|vibrissa placode|hair peg http://purl.obolibrary.org/obo/UBERON_0005086 UBERON:0005085 biolink:AnatomicalEntity ectodermal placode An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO]. AEO:0000218 hp.json epithelial placode http://purl.obolibrary.org/obo/UBERON_0005085 GO:0006704 biolink:NamedThing glucocorticoid biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0006704 GO:0006705 biolink:NamedThing mineralocorticoid biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0006705 UBERON:0007775 biolink:AnatomicalEntity secondary tooth A tooth that forms after a primary tooth. NCIT:C33313|UMLS:C0348070|FMA:55654 hp.json permanent tooth|dentes permanentes http://purl.obolibrary.org/obo/UBERON_0007775 pheno_slim HP:0003467 biolink:PhenotypicFeature Atlantoaxial instability Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. SNOMEDCT_US:202820009|UMLS:C0410653 hp.json http://purl.obolibrary.org/obo/HP_0003467 hposlim_core HP:0003466 biolink:PhenotypicFeature Paradoxical increased cortisol secretion on dexamethasone suppression test UMLS:C1968855 hp.json http://purl.obolibrary.org/obo/HP_0003466 UBERON:0005111 biolink:AnatomicalEntity metanephric pyramid Metanephric pyramids are the conical masses that constitute the renal medulla in a metanephros; they contain the loops of Henle and the medullary collecting ducts[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005111 UBERON:0005110 biolink:AnatomicalEntity metanephric nephron A metanephric nephron is the functional unit of the metanephros[GO]. VHOG:0000719 hp.json http://purl.obolibrary.org/obo/UBERON_0005110 HP:0003465 biolink:PhenotypicFeature Elevated 8(9)-cholestenol UMLS:C1840014 hp.json http://purl.obolibrary.org/obo/HP_0003465 UBERON:0007778 biolink:AnatomicalEntity umbilical artery endothelium An endothelium that is part of a umbilical artery. BTO:0000857 hp.json http://purl.obolibrary.org/obo/UBERON_0007778 HP:0003464 biolink:PhenotypicFeature obsolete Abnormal cholesterol homeostasis hp.json http://purl.obolibrary.org/obo/HP_0003464 UBERON:0007779 biolink:AnatomicalEntity transudate Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces. ncithesaurus:Transudate|MESH:D005122|GAID:1195|FMA:12276 hp.json plasma ultrafiltrate http://purl.obolibrary.org/obo/UBERON_0007779 HP:0003469 biolink:PhenotypicFeature Peripheral dysmyelination Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. UMLS:C4025610 hp.json http://purl.obolibrary.org/obo/HP_0003469 HP:0003468 biolink:PhenotypicFeature Abnormal vertebral morphology An abnormality of one or more of the vertebrae. SNOMEDCT_US:205043005|UMLS:C4020840|SNOMEDCT_US:74877002|UMLS:C4020839|Fyler:4108|UMLS:C0158775 hp.json Abnormal vertebral bodies|Vertebral anomalies|Abnormal vertebrae|Multiple vertebral anomalies|Abnormality of the vertebrae http://purl.obolibrary.org/obo/HP_0003468 HP:0003463 biolink:PhenotypicFeature Increased extraneuronal autofluorescent lipopigment Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. UMLS:C1859828 hp.json Lipopigment in extraneuronal cells http://purl.obolibrary.org/obo/HP_0003463 UBERON:0007771 biolink:AnatomicalEntity epidermis gland A gland that is part of a epidermis. FMA:59153 hp.json epidermal gland|gland of epidermis http://purl.obolibrary.org/obo/UBERON_0007771 grouping_class UBERON:0007772 biolink:AnatomicalEntity scrotal sweat Any portion of sweat that is produced by a sweat gland of the scrotum. FMA:73266 hp.json sweat of scrotum|sweat of scrotal sac|scrotum sweat http://purl.obolibrary.org/obo/UBERON_0007772 UBERON:0005115 biolink:AnatomicalEntity metanephric cortical collecting duct The metanephric cortical collecting duct is the portion of the metanephric collecting duct that resides in the renal cortex[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005115 HP:0003462 biolink:PhenotypicFeature Elevated 8-dehydrocholesterol UMLS:C1840013 hp.json http://purl.obolibrary.org/obo/HP_0003462 UBERON:0007773 biolink:AnatomicalEntity scrotal sweat gland Any sweat gland that is part of a scrotum. EMAPA:29743 hp.json http://purl.obolibrary.org/obo/UBERON_0007773 organ_slim HP:0003461 biolink:PhenotypicFeature Increased urinary O-linked sialopeptides Excretion of peptides conjugated to sialic acid in the urine. UMLS:C1836533 hp.json http://purl.obolibrary.org/obo/HP_0003461 HP:0003460 biolink:PhenotypicFeature Decreased circulating total IgA Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). UMLS:C4025611 hp.json Decreased total IgA in blood|Total immunoglobulin A deficiency http://purl.obolibrary.org/obo/HP_0003460 UBERON:0007774 biolink:AnatomicalEntity secondary dentition The teeth of adulthood that either replace or are added to the complement of deciduous teeth. (Boucher's Clinical Dental Terminology, 4th ed). MESH:D019229|GAID:1251|FMA:75152 hp.json set of permanent teeth|adult dentition|dentes permanentes|permanent teeth|secondary dentition|permanent dentition|set of secondary teeth http://purl.obolibrary.org/obo/UBERON_0007774 pheno_slim UBERON:0005113 biolink:AnatomicalEntity metanephric cortex mesenchyme EHDAA2:0001140 hp.json http://purl.obolibrary.org/obo/UBERON_0005113 PR:P01831 biolink:Protein Thy-1 membrane glycoprotein (mouse) A Thy-1 membrane glycoprotein that is encoded in the genome of mouse. UniProtKB:P01831 hp.json CD90 (mouse)|Thy-1 antigen (mouse)|Thy1|mTHY1|Thy-1 http://purl.obolibrary.org/obo/PR_P01831 NCBITaxon:7776 biolink:OrganismalEntity Gnathostomata GC_ID:1 hp.json Gnathostomata|jawed vertebrates http://purl.obolibrary.org/obo/NCBITaxon_7776 HP:0003477 biolink:PhenotypicFeature Peripheral axonal neuropathy An abnormality characterized by disruption of the normal functioning of peripheral axons. UMLS:C0270921|UMLS:C1263857|SNOMEDCT_US:128208007|SNOMEDCT_US:60703000 hp.json Axonal peripheral neuropathy|Axonal neuropathy http://purl.obolibrary.org/obo/HP_0003477 HP:0003470 biolink:PhenotypicFeature Paralysis Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. MSH:D010243|SNOMEDCT_US:44695005|UMLS:C0522224 hp.json Paralysis|Inability to move http://purl.obolibrary.org/obo/HP_0003470 UBERON:0005109 biolink:AnatomicalEntity metanephric smooth muscle tissue Any smooth muscle tissue that is part of a metanephros. hp.json http://purl.obolibrary.org/obo/UBERON_0005109 UBERON:0005108 biolink:AnatomicalEntity metanephric epithelium An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005108 UBERON:0005106 biolink:AnatomicalEntity metanephric tubule A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. VHOG:0001526 hp.json http://purl.obolibrary.org/obo/UBERON_0005106 HP:0003474 biolink:PhenotypicFeature Somatic sensory dysfunction An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. SNOMEDCT_US:398026008|SNOMEDCT_US:59073000|MSH:D006987|SNOMEDCT_US:397974008|UMLS:C0020580 hp.json Sensory impairment http://purl.obolibrary.org/obo/HP_0003474 HP:0003473 biolink:PhenotypicFeature Fatigable weakness A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C0947912 hp.json Myasthenia|Generalised muscle weakness due to defect at the neuromuscular junction|Fatigable weakness of limb muscles|Myasthenic weakness|Proximal muscle weakness due to defect at the neuromuscular junction|Generalized muscle weakness due to defect at the neuromuscular junction http://purl.obolibrary.org/obo/HP_0003473 UBERON:0007762 biolink:AnatomicalEntity metatarsophalangeal joint of pedal digit 5 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 5. FMA:35240|EMAPA:26484 hp.json metatarsophalangeal joint of fifth toe|metatarsophalangeal joint of fifth digit of foot|metatarsophalangeal joint of little toe|metatarsophalangeal joint of pedal digit V http://purl.obolibrary.org/obo/UBERON_0007762 pheno_slim HP:0003472 biolink:PhenotypicFeature Hypocalcemic tetany Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. UMLS:C0151940|SNOMEDCT_US:190869004 hp.json http://purl.obolibrary.org/obo/HP_0003472 UBERON:0005103 biolink:AnatomicalEntity mesonephric epithelium An epithelium that is part of a mesonephros [Automatically generated definition]. hp.json http://purl.obolibrary.org/obo/UBERON_0005103 CHEBI:32529 biolink:ChemicalSubstance histidinate(1-) Gmelin:364417|Beilstein:3959092 hp.json 2-amino-3-(1H-imidazol-4-yl)propanoate|hydrogen histidinate|histidine anion|histidinate(1-) http://purl.obolibrary.org/obo/CHEBI_32529 3_STAR HP:0003445 biolink:PhenotypicFeature EMG: neuropathic changes The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). UMLS:C4021727 hp.json EMG: neurogenic abnormalities|EMG: neurogenic changes|EMG: neurogenic findings http://purl.obolibrary.org/obo/HP_0003445 UBERON:0007753 biolink:AnatomicalEntity metatarsophalangeal joint of pedal digit 2 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 2. EMAPA:26442|FMA:35231 hp.json metatarsophalangeal joint of pedal digit II|metatarsophalangeal joint of second digit of foot|metatarsophalangeal joint of second toe http://purl.obolibrary.org/obo/UBERON_0007753 pheno_slim HP:0003444 biolink:PhenotypicFeature EMG: chronic denervation signs Evidence of chronic denervation on electromyography. UMLS:C4025614 hp.json http://purl.obolibrary.org/obo/HP_0003444 HP:0003443 biolink:PhenotypicFeature Decreased size of nerve terminals A reduction in the size of nerve terminals. UMLS:C4025615 hp.json http://purl.obolibrary.org/obo/HP_0003443 UBERON:0007756 biolink:AnatomicalEntity metatarsophalangeal joint of pedal digit 3 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 3. FMA:35234|EMAPA:26460 hp.json metatarsophalangeal joint of third toe|metatarsophalangeal joint of pedal digit III|metatarsophalangeal joint of third digit of foot http://purl.obolibrary.org/obo/UBERON_0007756 pheno_slim HP:0003449 biolink:PhenotypicFeature Cold-induced muscle cramps Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. UMLS:C1861675 hp.json http://purl.obolibrary.org/obo/HP_0003449 HP:0003448 biolink:PhenotypicFeature Decreased sensory nerve conduction velocity Reduced speed of conduction of the action potential along a sensory nerve. UMLS:C1849148 hp.json Decreased sensory NCV|Decreased sensory nerve conduction velocities http://purl.obolibrary.org/obo/HP_0003448 HP:0003447 biolink:PhenotypicFeature Axonal loss A reduction in the number of axons in the peripheral nervous system. UMLS:C1832338 hp.json http://purl.obolibrary.org/obo/HP_0003447 UBERON:0007759 biolink:AnatomicalEntity metatarsophalangeal joint of pedal digit 4 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 4. EMAPA:26472|FMA:35237 hp.json metatarsophalangeal joint of fourth digit of foot|metatarsophalangeal joint of fourth toe|metatarsophalangeal joint of pedal digit IV http://purl.obolibrary.org/obo/UBERON_0007759 pheno_slim UBERON:0032748 biolink:AnatomicalEntity sacral spinal cord ventral horn BIRNLEX:1457 hp.json sacral spinal cord ventral horn|sacral spinal cord anterior horn|sacral spinal cord ventral horn http://purl.obolibrary.org/obo/UBERON_0032748 UBERON:0007750 biolink:AnatomicalEntity metatarsophalangeal joint of pedal digit 1 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 1. NCIT:C102321|FMA:35228|EMAPA:26436 hp.json first metatarsophalangeal joint|metatarsophalangeal joint of great toe|metatarsophalangeal joint of first toe|metatarsophalangeal joint of first digit of foot|metatarsophalangeal joint of big toe|metatarsophalangeal joint of pedal digit I http://purl.obolibrary.org/obo/UBERON_0007750 pheno_slim HP:0003440 biolink:PhenotypicFeature Horizontal sacrum UMLS:C1850558 hp.json http://purl.obolibrary.org/obo/HP_0003440 hposlim_core CHEBI:533015 biolink:ChemicalSubstance 3,3',5-triiodo-L-thyronine zwitterion The amino acid zwitterion formed from 3,3',5-triiodo-L-thyronine by tranfer of a proton from the carboxy group to the amino group. It is the major species at pH 7.3. MetaCyc:CPD-10813 hp.json 3,3',5-triiodo-L-thyronine|(S)-2-Amino-3-[4-(4-hydroxy-3-iodo-phenoxy)-3,5-diiodo-phenyl]-propionic acid|(2S)-2-azaniumyl-3-[4-(4-hydroxy-3-iodophenoxy)-3,5-diiodophenyl]propanoate http://purl.obolibrary.org/obo/CHEBI_533015 3_STAR HP:0003456 biolink:PhenotypicFeature Low urinary cyclic AMP response to PTH administration UMLS:C1864105 hp.json http://purl.obolibrary.org/obo/HP_0003456 HP:0003455 biolink:PhenotypicFeature Elevated circulating long chain fatty acid concentration Increased concentration of long-chain fatty acids in the blood circulation. UMLS:C1859241 hp.json Elevated long chain fatty acids|Elevated serum long-chain fatty acids|Increased serum long-chain fatty acids http://purl.obolibrary.org/obo/HP_0003455 UBERON:0007744 biolink:AnatomicalEntity metacarpophalangeal joint of manual digit 4 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 4. FMA:35258|EMAPA:25066 hp.json metacarpophalangeal joint of fourth finger|carpometacarpophalangeal joint of fourth digit|metacarpo-phalangeal joint of digit 4 of fore-paw|metacarpophalangeal joint of manual digit IV|metacarpophalangeal joint of fourth digit of hand|metacarpophalangeal joint of ring finger|metacarpophalangeal joint of digit 4 http://purl.obolibrary.org/obo/UBERON_0007744 pheno_slim HP:0003454 biolink:PhenotypicFeature Platelet antibody positive The presence in the serum of autoantibodies directed against thrombocytes. UMLS:C1858980 hp.json Platelet antibody http://purl.obolibrary.org/obo/HP_0003454 CHEBI:32530 biolink:ChemicalSubstance histidinate(2-) hp.json 2-amino-3-imidazol-1-id-4-ylpropanoate|histidinate|histidinate(2-)|histidine dianion http://purl.obolibrary.org/obo/CHEBI_32530 3_STAR HP:0003453 biolink:PhenotypicFeature Antineutrophil antibody positivity The presence of autoantibodies in the serum that react against neutrophils. UMLS:C1858981 hp.json Neutrophil antibody positive|Antineutrophil antibodies http://purl.obolibrary.org/obo/HP_0003453 CHEBI:32531 biolink:ChemicalSubstance histidinium(1+) hp.json histidine monocation|histidinium|2-ammonio-3-(1H-imidazol-3-ium-4-yl)propanoate|histidinium(1+) http://purl.obolibrary.org/obo/CHEBI_32531 3_STAR CHEBI:32532 biolink:ChemicalSubstance histidinium(2+) Gmelin:1151904 hp.json histidine dication|histidinium(2+)|4-(2-ammonio-2-carboxyethyl)-1H-imidazol-3-ium|histidinediium http://purl.obolibrary.org/obo/CHEBI_32532 3_STAR UBERON:0007747 biolink:AnatomicalEntity metacarpophalangeal joint of manual digit 5 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 5. EMAPA:25069|FMA:35261 hp.json metacarpophalangeal joint of fifth finger|metacarpophalangeal joint of manual digit V|metacarpo-phalangeal joint of digit 5 of fore-paw|metacarpophalangeal joint of fifth digit of hand|metacarpophalangeal joint of little finger|metacarpophalangeal joint of digit 5 http://purl.obolibrary.org/obo/UBERON_0007747 pheno_slim HP:0003459 biolink:PhenotypicFeature Polyclonal elevation of IgM A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. UMLS:C4025612 hp.json http://purl.obolibrary.org/obo/HP_0003459 HP:0003458 biolink:PhenotypicFeature EMG: myopathic abnormalities The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. UMLS:C4021726 hp.json EMG: myopathy|EMG: myopathic changes|Myopathic electromyogram http://purl.obolibrary.org/obo/HP_0003458 HP:0003457 biolink:PhenotypicFeature EMG abnormality Abnormal results of investigations using electromyography (EMG). UMLS:C0476403|SNOMEDCT_US:274523007 hp.json Electromyogram abnormal|Abnormal EMG|Abnormal electromyography finding|EMG abnormalities http://purl.obolibrary.org/obo/HP_0003457 HP:0003452 biolink:PhenotypicFeature Increased serum iron SNOMEDCT_US:165624002|UMLS:C0151900 hp.json http://purl.obolibrary.org/obo/HP_0003452 HP:0003451 biolink:PhenotypicFeature Increased rate of premature chromosome condensation An increased rate of premature chromosome condensation. UMLS:C4025613 hp.json http://purl.obolibrary.org/obo/HP_0003451 HP:0003450 biolink:PhenotypicFeature Axonal regeneration The presence of axonal regeneration following a previous axonal lesion. UMLS:C1854454 hp.json Regenerative activity on nerve biopsy http://purl.obolibrary.org/obo/HP_0003450 UBERON:0007741 biolink:AnatomicalEntity metacarpophalangeal joint of manual digit 3 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 3. FMA:35255|EMAPA:25063 hp.json metacarpophalangeal joint of manual digit III|metacarpo-phalangeal joint of digit 3 of fore-paw|carpometacarpophalangeal joint of third digit|metacarpophalangeal joint of third finger|metacarpophalangeal joint of digit 3|metacarpophalangeal joint of middle finger|metacarpophalangeal joint of third digit of hand http://purl.obolibrary.org/obo/UBERON_0007741 pheno_slim CHEBI:32504 biolink:ChemicalSubstance phenylalaninate An aromatic amino-acid anion that is the conjugate base of phenylalanine, arising from deprotonation of the carboxy group. Gmelin:329083 hp.json 2-amino-3-phenylpropanoate|phenylalaninate|phenylalanine anion http://purl.obolibrary.org/obo/CHEBI_32504 3_STAR CHEBI:32505 biolink:ChemicalSubstance phenylalaninium An alpha-amino-acid cation that is the conjugate acid of phenylalanine, arising from protonation of the amino group. hp.json phenylalaninium|1-carboxy-2-phenylethanaminium|phenylalanine cation http://purl.obolibrary.org/obo/CHEBI_32505 3_STAR CHEBI:32507 biolink:ChemicalSubstance glycinium An alpha-amino-acid cation that is the conjugate acid of glycine, arising from protonation of the amino. Gmelin:323509 hp.json H2gly(+)|carboxymethanaminium|NH3(+)-CH2-COOH|glycine cation|glycinium http://purl.obolibrary.org/obo/CHEBI_32507 3_STAR CHEBI:32508 biolink:ChemicalSubstance glycinate An alpha-amino-acid anion that is the conjugate base of glycine, arising from deprotonation of the carboxy group. UM-BBD_compID:c0559|Gmelin:81890|Reaxys:1852023|Beilstein:1852023 hp.json glycine anion|H2N-CH2-COO(-)|aminoacetate|gly(-)|glycinate http://purl.obolibrary.org/obo/CHEBI_32508 3_STAR UBERON:0005156 biolink:AnatomicalEntity reproductive structure Any anatomical structure that is part of the reproductive system. hp.json reproductive system structure|reproductive system element http://purl.obolibrary.org/obo/UBERON_0005156 grouping_class UBERON:0005154 biolink:AnatomicalEntity epithelial cord A cord of epithelial cells without a lumen and usually several cells thick. EHDAA2:0004052|AEO:0000216 hp.json http://purl.obolibrary.org/obo/UBERON_0005154 UBERON:0005153 biolink:AnatomicalEntity epithelial bud A bud is a protrusion that forms from an epithelial sheet by localized folding. BTO:0001639 hp.json http://purl.obolibrary.org/obo/UBERON_0005153 UBERON:0005158 biolink:AnatomicalEntity parenchyma of central nervous system The functional tissue of the central nervous system consisting of neurons and glial cells. hp.json central nervous system parenchyma|CNS parenchyma|parenchyma of CNS|parenchyma of central nervous system http://purl.obolibrary.org/obo/UBERON_0005158 UBERON:0005157 biolink:AnatomicalEntity epithelial fold An epithelial sheet bent on a linear axis. hp.json http://purl.obolibrary.org/obo/UBERON_0005157 UBERON:0005145 biolink:AnatomicalEntity metanephric comma-shaped body The metanephric comma-shaped body is the precursor structure to the metanephric S-shaped body that contributes to the morphogenesis of a nephron in the metanephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005145 UBERON:0005144 biolink:AnatomicalEntity metanephric glomerular capillary This process pertains to the initial formation of a structure from unspecified parts[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005144 UBERON:0005148 biolink:AnatomicalEntity metanephric S-shaped body The metanephric S-shaped body is the successor of the metanephric comma-shaped body that contributes to the morphogenesis of a nephron in the metanephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005148 UBERON:0005147 biolink:AnatomicalEntity metanephric renal vesicle The renal vesicle is the primordial structure of the metanephric nephron epithelium, and is formed by the condensation of mesenchymal cells[GO]. EHDAA2:0001245|EHDAA:9346|EMAPA:27678 hp.json metanephric vesicle http://purl.obolibrary.org/obo/UBERON_0005147 UBERON:0005146 biolink:AnatomicalEntity metanephric nephron tubule A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005146 CHEBI:68566 biolink:ChemicalSubstance 3-methylglutaric acid An alpha,omega-dicarboxylic acid that is glutaric acid substituted at position 3 by a methyl group. PMID:22770225|LIPID_MAPS_instance:LMFA01170117|CAS:626-51-7|HMDB:HMDB0000752|Reaxys:1759502 hp.json beta-methylglutaric acid|3-methylpentanedioic acid http://purl.obolibrary.org/obo/CHEBI_68566 3_STAR HP:0003489 biolink:PhenotypicFeature Acute episodes of neuropathic symptoms UMLS:C1867971 hp.json http://purl.obolibrary.org/obo/HP_0003489 UBERON:0005134 biolink:AnatomicalEntity metanephric nephron epithelium The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005134 UBERON:0007798 biolink:AnatomicalEntity vascular system Anatomical system that consists of all blood and lymph vessels. CALOHA:TS-2053|UMLS:C0489903|EHDAA2:0004520|MA:0002718|BTO:0001085|NCIT:C33854|EMAPA:35905 hp.json http://purl.obolibrary.org/obo/UBERON_0007798 pheno_slim UBERON:0005133 biolink:AnatomicalEntity metanephric glomerulus vasculature The metanephric glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the metanephric glomerulus[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005133 HP:0003487 biolink:PhenotypicFeature Babinski sign Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. UMLS:C0034935|SNOMEDCT_US:366575004|SNOMEDCT_US:246586009 hp.json Extensor plantar reflexes|Positive Babinski sign|Extensor plantar responses|Extensor plantar response http://purl.obolibrary.org/obo/HP_0003487 HP:0003481 biolink:PhenotypicFeature Segmental peripheral demyelination/remyelination A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. UMLS:C1843077 hp.json Segmental demyelination/remyelination http://purl.obolibrary.org/obo/HP_0003481 UBERON:0005137 biolink:AnatomicalEntity metanephric capsule The metanephric capsule is the tough fibrous layer surrounding the metanephros, covered in a thick layer of perinephric adipose tissue. It provides some protection from trauma and damage[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005137 HP:0003484 biolink:PhenotypicFeature Upper limb muscle weakness Weakness of the muscles of the arms. UMLS:C1698196|SNOMEDCT_US:713512009 hp.json Weak arm|Decreased arm strength http://purl.obolibrary.org/obo/HP_0003484 UBERON:0007794 biolink:AnatomicalEntity secretion of serous gland Any fluid produced by a serous gland. Wikipedia:Serous_fluid hp.json serosal fluid|serous gland fluid|serosal fluid|serous fluid http://purl.obolibrary.org/obo/UBERON_0007794 UBERON:0005136 biolink:AnatomicalEntity metanephric glomerular endothelium The metanephric glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus of the metanephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005136 UBERON:0005135 biolink:AnatomicalEntity metanephric glomerular epithelium A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros[GO]. hp.json http://purl.obolibrary.org/obo/UBERON_0005135 HP:0003482 biolink:PhenotypicFeature EMG: axonal abnormality Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. UMLS:C4025609 hp.json http://purl.obolibrary.org/obo/HP_0003482 HP:0003498 biolink:PhenotypicFeature Disproportionate short stature A kind of short stature in which different regions of the body are shortened to differing extents. UMLS:C0878659|UMLS:C1846797 hp.json Short stature, disproportionate|Short stature, severe disproportionate http://purl.obolibrary.org/obo/HP_0003498 HP:0003492 biolink:PhenotypicFeature High urinary gonadotropin level An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism. UMLS:C4025606 hp.json http://purl.obolibrary.org/obo/HP_0003492 HP:0003491 biolink:PhenotypicFeature Elevated urine pyrophosphate An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. UMLS:C4025607 hp.json http://purl.obolibrary.org/obo/HP_0003491 HP:0003490 biolink:PhenotypicFeature obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA hp.json http://purl.obolibrary.org/obo/HP_0003490 HP:0003496 biolink:PhenotypicFeature Increased circulating IgM level An abnormally increased level of immunoglobulin M in blood. UMLS:C1839972 hp.json Increased IgM levels|Increased levels of IgM http://purl.obolibrary.org/obo/HP_0003496 HP:0003495 biolink:PhenotypicFeature GM2-ganglioside accumulation Cellular accumulation of GM2 gangliosides. UMLS:C1848920 hp.json http://purl.obolibrary.org/obo/HP_0003495 HP:0003494 biolink:PhenotypicFeature obsolete Loss of heterozygosity, multiple chromosomes hp.json http://purl.obolibrary.org/obo/HP_0003494 HP:0003493 biolink:PhenotypicFeature Antinuclear antibody positivity The presence of autoantibodies in the serum that react against nuclei or nuclear components. SNOMEDCT_US:165850001|UMLS:C0151480 hp.json Antinuclear antibodies|Antinuclear antibody positive|Serum antinuclear antibody|Elevated antinuclear antibody http://purl.obolibrary.org/obo/HP_0003493 GO:0006783 biolink:BiologicalProcess heme biosynthetic process The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors. MetaCyc:HEMESYN2-PWY hp.json heme anabolism|haem biosynthesis|haem biosynthetic process|heme synthesis|heme biosynthesis|heme formation http://purl.obolibrary.org/obo/GO_0006783 GO:0016101 biolink:BiologicalProcess diterpenoid metabolic process The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units. hp.json diterpene metabolic process|diterpenoid metabolism|diterpene metabolism http://purl.obolibrary.org/obo/GO_0016101 GO:0006796 biolink:BiologicalProcess phosphate-containing compound metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. hp.json phosphate metabolic process|phosphate metabolism http://purl.obolibrary.org/obo/GO_0006796 GO:0006793 biolink:BiologicalProcess phosphorus metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). hp.json phosphorus metabolism http://purl.obolibrary.org/obo/GO_0006793 goslim_pir GO:0006790 biolink:BiologicalProcess sulfur compound metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. Wikipedia:Sulfur_metabolism hp.json sulphur metabolism|sulphur metabolic process|sulfur metabolism http://purl.obolibrary.org/obo/GO_0006790 prokaryote_subset|goslim_pombe|goslim_pir|goslim_drosophila|goslim_chembl|goslim_generic CHEBI:173085 biolink:ChemicalSubstance ferroptosis inducer Any substance that induces or promotes ferroptosis (a type of programmed cell death dependent on iron and characterized by the accumulation of lipid peroxides) in organisms. PMID:31899616|PMID:32015325|PMID:34012798|PMID:33167414|Wikipedia:Ferroptosis hp.json ferroptosis inducers http://purl.obolibrary.org/obo/CHEBI_173085 3_STAR GO:0006766 biolink:BiologicalProcess vitamin metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. hp.json vitamin metabolism http://purl.obolibrary.org/obo/GO_0006766 goslim_drosophila|goslim_yeast|goslim_candida|goslim_generic|goslim_pir|goslim_pombe GO:0006767 biolink:BiologicalProcess water-soluble vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. hp.json water-soluble vitamin metabolism http://purl.obolibrary.org/obo/GO_0006767 GO:0090022 biolink:BiologicalProcess regulation of neutrophil chemotaxis Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. hp.json http://purl.obolibrary.org/obo/GO_0090022 GO:0090023 biolink:BiologicalProcess positive regulation of neutrophil chemotaxis Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. hp.json http://purl.obolibrary.org/obo/GO_0090023 GO:0090026 biolink:BiologicalProcess positive regulation of monocyte chemotaxis Any process that increases the frequency, rate, or extent of monocyte chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_0090026 GO:0090027 biolink:BiologicalProcess negative regulation of monocyte chemotaxis Any process that decreases the frequency, rate, or extent of monocyte chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_0090027 GO:0090024 biolink:BiologicalProcess negative regulation of neutrophil chemotaxis Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. hp.json http://purl.obolibrary.org/obo/GO_0090024 GO:0090025 biolink:BiologicalProcess regulation of monocyte chemotaxis Any process that modulates the frequency, rate, or extent of monocyte chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_0090025 GO:0006779 biolink:BiologicalProcess porphyrin-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of any member of a large group of derivatives or analogs of porphyrin. Porphyrin consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. hp.json porphyrin biosynthetic process|porphyrin biosynthesis|porphyrin anabolism|porphyrin synthesis|porphyrin formation http://purl.obolibrary.org/obo/GO_0006779 GO:0006778 biolink:BiologicalProcess porphyrin-containing compound metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. hp.json porphyrin metabolism|porphyrin metabolic process http://purl.obolibrary.org/obo/GO_0006778 GO:0090030 biolink:NamedThing regulation of steroid hormone biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0090030 GO:0006775 biolink:BiologicalProcess fat-soluble vitamin metabolic process The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. hp.json fat-soluble vitamin metabolism http://purl.obolibrary.org/obo/GO_0006775 GO:0006776 biolink:BiologicalProcess vitamin A metabolic process The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene. hp.json vitamin A metabolism http://purl.obolibrary.org/obo/GO_0006776 GO:0090031 biolink:NamedThing positive regulation of steroid hormone biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0090031 GO:0090032 biolink:NamedThing negative regulation of steroid hormone biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0090032 UBERON:0007728 biolink:AnatomicalEntity interphalangeal joint of pedal digit 5 An interphalangeal joint of pes that is part of a pedal digit 5. EMAPA:26478|FMA:35365 hp.json interphalangeal joint of fifth digit of foot|interphalangeal joint of little toe|interphalangeal joint of pedal digit V|interphalangeal joint of fifth toe http://purl.obolibrary.org/obo/UBERON_0007728 UBERON:0007729 biolink:AnatomicalEntity interphalangeal joint of manual digit 2 An interphalangeal joint of manus that is part of a manual digit 2. EMAPA:25061|FMA:35397 hp.json interphalangeal joint of second digit of hand|interphalangeal joint of manual digit II|interphalangeal joint of second finger|interphalangeal joint of index finger http://purl.obolibrary.org/obo/UBERON_0007729 HP:0003429 biolink:PhenotypicFeature CNS hypomyelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. UMLS:C0544820|UMLS:C4025616|SNOMEDCT_US:111007000 hp.json http://purl.obolibrary.org/obo/HP_0003429 PATO:0001499 biolink:NamedThing spherical A spheroid quality inhering in a bearer by virtue of the bearer's resembling a ball (a sphere whose equatorial diameter is equal to the polar diameter). hp.json globular|rotund http://purl.obolibrary.org/obo/PATO_0001499 value_slim|mpath_slim|cell_quality UBERON:0007731 biolink:AnatomicalEntity interphalangeal joint of manual digit 4 An interphalangeal joint of manus that is part of a manual digit 4. EMAPA:25067|FMA:35403 hp.json interphalangeal joint of fourth digit of hand|interphalangeal joint of fourth finger|interphalangeal joint of manual digit IV|interphalangeal joint of ring finger http://purl.obolibrary.org/obo/UBERON_0007731 HP:0003423 biolink:PhenotypicFeature Thoracolumbar kyphoscoliosis UMLS:C1859335 hp.json Dorsolumbar kyphosis http://purl.obolibrary.org/obo/HP_0003423 HP:0003422 biolink:PhenotypicFeature Vertebral segmentation defect An abnormality related to a defect of vertebral separation during development. UMLS:C0432163|SNOMEDCT_US:205455005 hp.json Abnormal spinal segmentation http://purl.obolibrary.org/obo/HP_0003422 hposlim_core UBERON:0007732 biolink:AnatomicalEntity interphalangeal joint of manual digit 5 An interphalangeal joint of manus that is part of a manual digit 5. FMA:35407|EMAPA:25070 hp.json interphalangeal joint of fifth finger|interphalangeal joint of manual digit V|interphalangeal joint of fifth digit of hand|interphalangeal joint of little finger http://purl.obolibrary.org/obo/UBERON_0007732 HP:0003421 biolink:PhenotypicFeature obsolete Platyspondyly (childhood) hp.json http://purl.obolibrary.org/obo/HP_0003421 UBERON:0007735 biolink:AnatomicalEntity metacarpophalangeal joint of manual digit 1 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 1. FMA:35249|EMAPA:25057 hp.json metacarpophalangeal joint of digit 1|metacarpophalangeal joint of manual digit I|metacarpophalangeal joint of thumb|metacarpo-phalangeal joint of digit 1 of fore-paw|metacarpophalangeal joint of first digit of hand http://purl.obolibrary.org/obo/UBERON_0007735 pheno_slim HP:0003427 biolink:PhenotypicFeature Thenar muscle weakness UMLS:C1832276 hp.json http://purl.obolibrary.org/obo/HP_0003427 HP:0003426 biolink:PhenotypicFeature First dorsal interossei muscle atrophy UMLS:C1832278 hp.json http://purl.obolibrary.org/obo/HP_0003426 PATO:0001495 biolink:NamedThing notched A concave quality inhering in a bearer by virtue of the bearer's shape being a V-shaped cut. hp.json indented http://purl.obolibrary.org/obo/PATO_0001495 value_slim|mpath_slim|cell_quality UBERON:0007738 biolink:AnatomicalEntity metacarpophalangeal joint of manual digit 2 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 2. FMA:35252|EMAPA:25060 hp.json metacarpophalangeal joint of second digit of hand|metacarpophalangeal joint of digit 2|metacarpo-phalangeal joint of digit 2 of fore-paw|metacarpophalangeal joint of manual digit II|metacarpophalangeal joint of second finger|metacarpophalangeal joint of index finger http://purl.obolibrary.org/obo/UBERON_0007738 GO:0090087 biolink:BiologicalProcess regulation of peptide transport Any process that modulates the frequency, rate or extent of the directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0090087 UBERON:0007730 biolink:AnatomicalEntity interphalangeal joint of manual digit 3 An interphalangeal joint of manus that is part of a manual digit 3. FMA:35400|EMAPA:25064 hp.json interphalangeal joint of third digit of hand|interphalangeal joint of manual digit III|interphalangeal joint of third finger|interphalangeal joint of middle finger http://purl.obolibrary.org/obo/UBERON_0007730 GO:0090091 biolink:BiologicalProcess positive regulation of extracellular matrix disassembly Any process that increases the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix. hp.json http://purl.obolibrary.org/obo/GO_0090091 GO:0006757 biolink:BiologicalProcess ATP generation from ADP The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP. hp.json ADP phosphorylation http://purl.obolibrary.org/obo/GO_0006757 GO:0006753 biolink:BiologicalProcess nucleoside phosphate metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. hp.json nucleoside phosphate metabolism http://purl.obolibrary.org/obo/GO_0006753 UBERON:0007719 biolink:AnatomicalEntity bone of reproductive organ A bone that is part of a reproductive organ. hp.json baculum|os penis/os clitoris http://purl.obolibrary.org/obo/UBERON_0007719 HP:0003434 biolink:PhenotypicFeature Sensory ataxic neuropathy UMLS:C1843859 hp.json http://purl.obolibrary.org/obo/HP_0003434 UBERON:0007721 biolink:AnatomicalEntity interphalangeal joint of pes The interphalangeal articulations of the foot (articulations of the phalanges) are ginglymoid joints, and each has a plantar and two collateral ligaments. The arrangement of these ligaments is similar to that in the metatarsophalangeal articulations: the Extensor tendons supply the places of dorsal ligaments. MESH:D014033|EMAPA:36337|FMA:35225|NCIT:C32867|NCIT:C33789|UMLS:C0040356 hp.json interphalangeal joint of foot|hindlimb digit inter-phalangeal joint|toe joint|interphalangeal joint of toe|foot interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0007721 pheno_slim UBERON:0007722 biolink:AnatomicalEntity interphalangeal joint of manus The interphalangeal articulations of hand are hinge-joints of the phalanges of the hand. There are two sets (except in the thumb): 'proximal interphalangeal joints' (PIP), those between the first (also called proximal) and second (intermediate) phalanges 'distal interphalangeal joints' (DIP), those between the second and third (distal) phalanges A similar group of articulations also function in the toes. UMLS:C0016125|EMAPA:36336|NCIT:C32868|FMA:35285 hp.json articulations of the digits|interphalangeal articulations of hand|IP joint|interphalangeal joints of hand|interphalangeal joint of finger|articulationes interphalangeae manus|interphalangeal joint of hand|articulationes digitorum manus http://purl.obolibrary.org/obo/UBERON_0007722 pheno_slim HP:0003431 biolink:PhenotypicFeature Decreased motor nerve conduction velocity A type of decreased nerve conduction velocity that affects the motor neuron. UMLS:C1858729 hp.json Reduced motor nerve conduction velocity|Decreased motor NCV|Decreased motor nerve conduction velocities http://purl.obolibrary.org/obo/HP_0003431 UBERON:0007723 biolink:AnatomicalEntity interphalangeal joint of manual digit 1 An interphalangeal joint of manus that is part of a manual digit 1. FMA:35312|EMAPA:25058|NCIT:C102306 hp.json interphalangeal joint of thumb|interphalangeal joint of hand digit 1|interphalangeal joint of manual digit I|interphalangeal joint of first digit of hand|interphalangeal joint of manual digit 1|interphalangeal joint of pollex http://purl.obolibrary.org/obo/UBERON_0007723 pheno_slim UBERON:0007724 biolink:AnatomicalEntity interphalangeal joint of pedal digit 1 An interphalangeal joint of pes that is part of a pedal digit 1. FMA:35353|EMAPA:26430 hp.json interphalangeal joint of pedal digit I|interphalangeal joint of foot digit 1|interphalangeal joint of hallux|interphalangeal joint of first digit of pes|interphalangeal joint of great toe|interphalangeal joint of pedal digit 1|interphalangeal joint of first toe|interphalangeal joint of first digit of foot|interphalangeal joint of big toe http://purl.obolibrary.org/obo/UBERON_0007724 HP:0003438 biolink:PhenotypicFeature Absent Achilles reflex Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. MSH:D012021|UMLS:C0558845|SNOMEDCT_US:274818004 hp.json Absent ankle reflexes http://purl.obolibrary.org/obo/HP_0003438 UBERON:0007725 biolink:AnatomicalEntity interphalangeal joint of pedal digit 2 An interphalangeal joint of pes that is part of a pedal digit 2. EMAPA:26448|FMA:35356 hp.json interphalangeal joint of second digit of foot|interphalangeal joint of pedal digit II|interphalangeal joint of second toe http://purl.obolibrary.org/obo/UBERON_0007725 HP:0003436 biolink:PhenotypicFeature Prolonged miniature endplate currents An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. UMLS:C1864238 hp.json Prolonged MEPC|Prolonged miniature endplate potentials|Prolonged MEPP http://purl.obolibrary.org/obo/HP_0003436 UBERON:0007726 biolink:AnatomicalEntity interphalangeal joint of pedal digit 3 An interphalangeal joint of pes that is part of a pedal digit 3. FMA:35359|EMAPA:26454 hp.json interphalangeal joint of pedal digit III|interphalangeal joint of third digit of foot|interphalangeal joint of third toe http://purl.obolibrary.org/obo/UBERON_0007726 UBERON:0007727 biolink:AnatomicalEntity interphalangeal joint of pedal digit 4 An interphalangeal joint of pes that is part of a pedal digit 4. EMAPA:26466|FMA:35362 hp.json interphalangeal joint of fourth toe|interphalangeal joint of fourth digit of foot|interphalangeal joint of pedal digit IV http://purl.obolibrary.org/obo/UBERON_0007727 HP:0003435 biolink:PhenotypicFeature Cold-induced hand cramps UMLS:C1832279 hp.json http://purl.obolibrary.org/obo/HP_0003435 GO:0006725 biolink:BiologicalProcess cellular aromatic compound metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. hp.json aromatic compound metabolism|aromatic hydrocarbon metabolism|aromatic hydrocarbon metabolic process http://purl.obolibrary.org/obo/GO_0006725 goslim_pir GO:0090063 biolink:BiologicalProcess positive regulation of microtubule nucleation Any process that increases the rate, frequency or extent of microtubule nucleation. Microtubule nucleation is the 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates, some of which go on to support formation of a complete microtubule. Microtubule nucleation usually occurs from a specific site within a cell. hp.json http://purl.obolibrary.org/obo/GO_0090063 GO:0006720 biolink:BiologicalProcess isoprenoid metabolic process The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. hp.json polyterpene metabolic process|polyisoprenoid metabolism|isoprenoid metabolism|polyisoprenoid metabolic process|polyterpene metabolism http://purl.obolibrary.org/obo/GO_0006720 GO:0006721 biolink:BiologicalProcess terpenoid metabolic process The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups. hp.json terpenoid metabolism http://purl.obolibrary.org/obo/GO_0006721 HP:0003409 biolink:PhenotypicFeature Distal sensory impairment of all modalities Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. UMLS:C1836527 hp.json Distal sensory loss to all modalities http://purl.obolibrary.org/obo/HP_0003409 UBERON:0007709 biolink:AnatomicalEntity superior cerebellar peduncle of pons BIRNLEX:1726|FMA:72495|BAMS:scpp|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=833 hp.json SCPP|superior cerebellar peduncle of the pons|pedunculus cerebellaris superior (pontis)|superior cerebellar peduncle of pons|SCPP http://purl.obolibrary.org/obo/UBERON_0007709 pheno_slim HP:0003406 biolink:PhenotypicFeature Peripheral nerve compression UMLS:C1851414 hp.json http://purl.obolibrary.org/obo/HP_0003406 CHEBI:741548 biolink:ChemicalSubstance ethylmalonic acid A dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group. PMID:23161776|PMID:6860317|Reaxys:774334|CAS:601-75-2|CAS:516-05-2|PMID:22133302|CAS:601-75-2|HMDB:HMDB0000622|PMID:20187168 hp.json ethylpropanedioic acid|alpha-carboxybutyric acid|1,1-propanedicarboxylic acid|2-ethylmalonic acid http://purl.obolibrary.org/obo/CHEBI_741548 3_STAR HP:0003401 biolink:PhenotypicFeature Paresthesia Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. UMLS:C0030554|SNOMEDCT_US:91019004|MSH:D010292 hp.json Pins and needles feeling|Tingling|Paresthesias http://purl.obolibrary.org/obo/HP_0003401 HP:0003400 biolink:PhenotypicFeature Basal lamina onion bulb formation A type of onion bulb formation prominently affecting the area of the basal lamina. UMLS:C1866637 hp.json Basal lamina 'onion bulb' formations on nerve biopsy http://purl.obolibrary.org/obo/HP_0003400 CHEBI:32563 biolink:ChemicalSubstance lysinate An alpha-amino-acid anion that is the conjugate base of lysine, arising from deprotonation of the carboxy group. Gmelin:815095 hp.json lys(-)|lysinate(1-)|lysinate|lysine anion|2,6-diaminohexanoate http://purl.obolibrary.org/obo/CHEBI_32563 3_STAR CHEBI:32564 biolink:ChemicalSubstance lysinium(1+) An alpha-amino-acid cation that is the conjugate acid of lysine, having two cationic amino groups and an anionic carboxy group. hp.json lysine monocation|2,6-diammoniohexanoate|lysinium|lysinium(1+) http://purl.obolibrary.org/obo/CHEBI_32564 3_STAR HP:0003405 biolink:PhenotypicFeature Diffuse axonal swelling UMLS:C1865417 hp.json http://purl.obolibrary.org/obo/HP_0003405 CHEBI:32565 biolink:ChemicalSubstance lysinium(2+) An alpha-amino-acid cation obtained by protonation of both amino groups of lysine. hp.json lysine dication|lysinium(2+)|1-carboxypentane-1,5-diaminium|lysinediium http://purl.obolibrary.org/obo/CHEBI_32565 3_STAR HP:0003403 biolink:PhenotypicFeature EMG: decremental response of compound muscle action potential to repetitive nerve stimulation A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. UMLS:C4021728|UMLS:C4020841 hp.json EMG: decrement at repetitive stimulation|EMG: decremental response of CMAP to repetitive nerve stimulation http://purl.obolibrary.org/obo/HP_0003403 HP:0003402 biolink:PhenotypicFeature Decreased miniature endplate potentials An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. UMLS:C1853952 hp.json Small miniature endplate potentials|Small miniature endplate currents|Decreased MEPP http://purl.obolibrary.org/obo/HP_0003402 GO:0090068 biolink:BiologicalProcess positive regulation of cell cycle process Any process that increases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. hp.json http://purl.obolibrary.org/obo/GO_0090068 GO:0090069 biolink:BiologicalProcess regulation of ribosome biogenesis Any process that modulates the rate, frequency or extent of ribosome biogenesis. Ribosome biogenesis is the cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits. hp.json http://purl.obolibrary.org/obo/GO_0090069 GO:0090070 biolink:BiologicalProcess positive regulation of ribosome biogenesis Any process that increases the rate, frequency or extent of ribosome biogenesis. Ribosome biogenesis is the cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits. hp.json http://purl.obolibrary.org/obo/GO_0090070 GO:0090071 biolink:BiologicalProcess negative regulation of ribosome biogenesis Any process that decreases the rate, frequency or extent of ribosome biogenesis. Ribosome biogenesis is the cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits. hp.json http://purl.obolibrary.org/obo/GO_0090071 HP:0003419 biolink:PhenotypicFeature Low back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. SNOMEDCT_US:279039007|MSH:D017116|UMLS:C0024031 hp.json Lower back pain http://purl.obolibrary.org/obo/HP_0003419 HP:0003418 biolink:PhenotypicFeature Back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. UMLS:C0004604|SNOMEDCT_US:161891005|MSH:D001416 hp.json Back pain http://purl.obolibrary.org/obo/HP_0003418 HP:0003417 biolink:PhenotypicFeature Coronal cleft vertebrae Frontal schisis (cleft or cleavage) of vertebral bodies. UMLS:C1834954 hp.json Coronal vertebral clefts|Vertebral coronal clefts|Coronal clefts|coronal cleft of vertebrae http://purl.obolibrary.org/obo/HP_0003417 HP:0003411 biolink:PhenotypicFeature Proximal femoral metaphyseal irregularity Irregularity of the normally smooth surface of the proximal metaphysis of the femur. UMLS:C1836320 hp.json Irregular proximal femoral metaphyses http://purl.obolibrary.org/obo/HP_0003411 UBERON:0007702 biolink:AnatomicalEntity tract of brain An axon tract that is part of a brain. FMA:83848 hp.json brain tract|landmark tracts http://purl.obolibrary.org/obo/UBERON_0007702 HP:0003416 biolink:PhenotypicFeature Spinal canal stenosis An abnormal narrowing of the spinal canal. UMLS:C1861329 hp.json Spinal stenosis|Narrow spinal canal http://purl.obolibrary.org/obo/HP_0003416 hposlim_core HP:0003414 biolink:PhenotypicFeature Atlantoaxial dislocation Partial dislocation of the atlantoaxial joint. SNOMEDCT_US:45179004|UMLS:C0263905|SNOMEDCT_US:263042007 hp.json Atlanto-axial subluxation|Atlantoaxial subluxation http://purl.obolibrary.org/obo/HP_0003414 HP:0003413 biolink:PhenotypicFeature Atlantoaxial abnormality An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. UMLS:C4025617 hp.json http://purl.obolibrary.org/obo/HP_0003413 MPATH:64 biolink:NamedThing developmental dysplasia Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. hp.json http://purl.obolibrary.org/obo/MPATH_64 PATO:0001457 biolink:NamedThing sensitivity of a process A quality of a process inhering in bearer by virtue of the bearer's disposition to respond to stimulation. hp.json sensitivity of occurrent http://purl.obolibrary.org/obo/PATO_0001457 disposition_slim|relational_slim|attribute_slim MPATH:62 biolink:NamedThing cyst Formation of an epithelium bounded cavity not associated with neoplasia. hp.json http://purl.obolibrary.org/obo/MPATH_62 MPATH:68 biolink:NamedThing diverticulum A blind ended outpouching through the wall of a tubular organ or bounded cavity. hp.json http://purl.obolibrary.org/obo/MPATH_68 MPATH:66 biolink:NamedThing dilatation Increase in the diameter of an orifice or tubular structure beyond its normal dimensions. hp.json http://purl.obolibrary.org/obo/MPATH_66 GO:0090206 biolink:BiologicalProcess negative regulation of cholesterol metabolic process Any process that decreases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. hp.json http://purl.obolibrary.org/obo/GO_0090206 PATO:0001450 biolink:NamedThing edematous A structural quality which is held by a bearer when the latter exhibits an excessive accumulation of extracellular fluid. hp.json oedematous|oedema|edemic|edema|oedemic http://purl.obolibrary.org/obo/PATO_0001450 value_slim|mpath_slim GO:0090205 biolink:BiologicalProcess positive regulation of cholesterol metabolic process Any process that increases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. hp.json http://purl.obolibrary.org/obo/GO_0090205 PATO:0001453 biolink:NamedThing detached from An attachment quality inhering in a bearer by virtue of the bearer's lacking connection or association with another entity. hp.json detached http://purl.obolibrary.org/obo/PATO_0001453 relational_slim|value_slim|mpath_slim MPATH:70 biolink:NamedThing fistula An abnormal passage between two internal organs or leading from a cavity to the body surface. hp.json http://purl.obolibrary.org/obo/MPATH_70 PATO:0001468 biolink:NamedThing curved dorsal A curvature quality inhering in a bearer by virtue of the bearer's being curved towards the back or upper surface of an organism. hp.json curved posterior (human torso)|curved superior (human head) http://purl.obolibrary.org/obo/PATO_0001468 value_slim MPATH:74 biolink:NamedThing hamartoma A focal malformation resembling a neoplasm which results from faulty development of an organ; composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element. Growth and location are usually normal for that tissue cf. Heterotopia/Choristoma MPATH:76/MPATH:477. hp.json http://purl.obolibrary.org/obo/MPATH_74 PATO:0001469 biolink:NamedThing curved ventral A curvature quality inhering in a bearer by virtue of the bearer's being curved towards the abdomen of an organism. hp.json curved inferior (human head)|curved anterior (human torso) http://purl.obolibrary.org/obo/PATO_0001469 value_slim MPATH:86 biolink:NamedThing organ specific developmental defect Developmental defect characteristic of a particular organ or organ system which may be a recognised syndrome or a complex defect showing multiple manifestations. hp.json http://purl.obolibrary.org/obo/MPATH_86 PATO:0001477 biolink:NamedThing retracted A positional quality inhering in a bearer by virtue of the bearer's being drawn in or pulled back from any given point. hp.json retruded|moved http://purl.obolibrary.org/obo/PATO_0001477 value_slim MPATH:89 biolink:NamedThing cardiovascular developmental defect Abnormal development of the heart or vascular tissue resulting in morphological abnormality. hp.json http://purl.obolibrary.org/obo/MPATH_89 PATO:0001472 biolink:NamedThing decreased depth A depth which is relatively low. hp.json low depth|shallow http://purl.obolibrary.org/obo/PATO_0001472 value_slim PATO:0001470 biolink:NamedThing proportionality to A quality inhering in a bearer by virtue of the bearer's magnitude in respect to a related entity. hp.json ratio|quotient|rate|proportion|proportionality http://purl.obolibrary.org/obo/PATO_0001470 relational_slim|attribute_slim PATO:0001475 biolink:NamedThing increased position A position which is relatively high. hp.json high position http://purl.obolibrary.org/obo/PATO_0001475 value_slim PATO:0001476 biolink:NamedThing decreased position A positional which is relatively low. hp.json low position http://purl.obolibrary.org/obo/PATO_0001476 value_slim PATO:0001473 biolink:NamedThing duplicated A quality inhering in a bearer by virtue of the bearer's being present in two copies. hp.json doubled http://purl.obolibrary.org/obo/PATO_0001473 value_slim|mpath_slim PATO:0001474 biolink:NamedThing anteverted An oriented quality inhering in a bearer by virtue of the bearer's axis being positioned forward. hp.json http://purl.obolibrary.org/obo/PATO_0001474 value_slim|mpath_slim MPATH:90 biolink:NamedThing aneurysm Localised dilation of an artery or heart chamber usually due to an acquired or congenital weakness of the wall of the artery or chamber. hp.json http://purl.obolibrary.org/obo/MPATH_90 PATO:0001488 biolink:NamedThing cellular motility A cellular quality inhering in a cell by virtue of whether the bearer exhibits the ability to move spontaneously. hp.json http://purl.obolibrary.org/obo/PATO_0001488 scalar_slim|disposition_slim|attribute_slim MPATH:98 biolink:NamedThing lymphangiectasis A stretching and widening of the lymphatic vessels. hp.json Lymphectasia|telangiectasia lymphatica http://purl.obolibrary.org/obo/MPATH_98 PATO:0001482 biolink:NamedThing prominent A quality inhering in a bearer by virtue of the bearer's standing out or projecting beyond a surface or line. hp.json http://purl.obolibrary.org/obo/PATO_0001482 value_slim PATO:0001483 biolink:NamedThing aplastic Absence of an organ, tissue or cell due to failure to develop from a primordium or precursor cell. hp.json aplasia|undeveloped http://purl.obolibrary.org/obo/PATO_0001483 value_slim|mpath_slim PATO:0001481 biolink:NamedThing sloped A shape quality inhering in a bearer by virtue of the bearer's having an oblique or slanted direction. hp.json http://purl.obolibrary.org/obo/PATO_0001481 value_slim PATO:0001419 biolink:NamedThing sharp A shape quality inhering in a bearer by virtue of the bearer's terminating in a point or edge. hp.json http://purl.obolibrary.org/obo/PATO_0001419 value_slim|cell_quality MPATH:14 biolink:NamedThing process of degenerative change A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. hp.json http://purl.obolibrary.org/obo/MPATH_14 PATO:0001410 biolink:NamedThing striated A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel. hp.json http://purl.obolibrary.org/obo/PATO_0001410 mpath_slim|cell_quality|value_slim MPATH:31 biolink:NamedThing emphysema Abnormal accumulation of air in the interstitial connective tissue of a structure. Sensu Lung: Pulmonary emphysema; characterised by abnormal increase in the size of air (alveolar) spaces distal to the terminal bronchiole with degenerative changes in their walls and reduction in their number. hp.json http://purl.obolibrary.org/obo/MPATH_31 MPATH:34 biolink:NamedThing amyloid deposition Extracellular deposition of amyloid protein. hp.json Amyloidosis http://purl.obolibrary.org/obo/MPATH_34 MPATH:33 biolink:NamedThing intracellular and extracellular accumulation Accumulation of substances within, on the surface of or between cells. hp.json http://purl.obolibrary.org/obo/MPATH_33 MPATH:28 biolink:NamedThing atherosclerosis Characterised by irregular lipid deposits in the wall of arteries, causing narrowing of their lumens and proceeding eventually to fibrosis and calcification. hp.json http://purl.obolibrary.org/obo/MPATH_28 MPATH:27 biolink:NamedThing arthrosis Changes characterized by erosion of articular cartilage, either primary or secondary to trauma or other conditions. Not primarily an inflammatory process. hp.json osteoarthrosis|Degenerative joint disease http://purl.obolibrary.org/obo/MPATH_27 MPATH:25 biolink:NamedThing tissue specific degenerative process Degenerative process characteristic of a particular tissue. hp.json http://purl.obolibrary.org/obo/MPATH_25 CHEBI:4167 biolink:ChemicalSubstance D-glucopyranose A glucopyranose having D-configuration. PMID:19913595|HMDB:HMDB0000122|CAS:2280-44-6|Beilstein:1281604|Reaxys:1281604|PMID:9140037|KEGG:D00009|PMID:17928662|MetaCyc:D-Glucose|KNApSAcK:C00001122|PMID:17336832|PMID:9501190|PMID:7524207|GlyTouCan:G15021LG|PMID:15987845|Gmelin:83256|GlyGen:G15021LG|PMID:9545565|PMID:9506998|PMID:16901854|PMID:17439666|PMID:32619908|KEGG:C00031|Wikipedia:Glucose|PMID:26812026 hp.json Dextrose|WURCS=2.0/1,1,0/[a2122h-1x_1-5]/1/|D-glucopyranose|glucose|D-Glucose|D-Glcp|Glc-OH|Grape sugar|D-glucose|Glucose|D-Glc http://purl.obolibrary.org/obo/CHEBI_4167 3_STAR GO:0090257 biolink:BiologicalProcess regulation of muscle system process Any process that modulates the frequency, rate or extent of a muscle system process, a multicellular organismal process carried out by any of the organs or tissues in a muscle system. hp.json http://purl.obolibrary.org/obo/GO_0090257 PATO:0001435 biolink:NamedThing attachment quality A structural quality inhering in a bearer by virtue of the bearer's having connection or association with another entity. hp.json http://purl.obolibrary.org/obo/PATO_0001435 relational_slim|attribute_slim PATO:0001434 biolink:NamedThing reproductive quality An organismal quality inhering in a bearer by virtue of the bearer's ability to produce new life or offspring. hp.json http://purl.obolibrary.org/obo/PATO_0001434 PATO:0001439 biolink:NamedThing tonicity A contractile quality inhering in a bearer by virtue of the bearer's elastic tension that facilitate response to stimuli. hp.json tone http://purl.obolibrary.org/obo/PATO_0001439 scalar_slim|disposition_slim|attribute_slim MPATH:36 biolink:NamedThing calcium deposition Intra or extracellular deposition of calcium usually as calcium phosphate. hp.json http://purl.obolibrary.org/obo/MPATH_36 PATO:0001447 biolink:NamedThing calcified A composition quality inhering in an bearer by virtue of the bearer's being encrusted or impregnated with calcium carbonate (CHEBI:3311). hp.json calcification|calcareous http://purl.obolibrary.org/obo/PATO_0001447 cell_quality|value_slim|mpath_slim PATO:0001444 biolink:NamedThing broken A structural quality inhering in a bearer by virtue of the bearer's components no longer being in a single contiguous unit. hp.json torn|fragmented|hemorrhaged|fractured|split|cracked http://purl.obolibrary.org/obo/PATO_0001444 value_slim MPATH:56 biolink:NamedThing developmental or adult structural defect Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. hp.json http://purl.obolibrary.org/obo/MPATH_56 MPATH:55 biolink:NamedThing developmental and structural abnormality Developmental and structural abnormalities occurring during embryonic development or during adult life. hp.json http://purl.obolibrary.org/obo/MPATH_55 PATO:0001449 biolink:NamedThing cartilaginous A composition quality inhering in an bearer by virtue of the bearer's cartilage quantities. hp.json http://purl.obolibrary.org/obo/PATO_0001449 value_slim|mpath_slim PATO:0001442 biolink:NamedThing wholeness A structural quality inhering in a bearer by virtue of whether the bearer includes all its components. hp.json http://purl.obolibrary.org/obo/PATO_0001442 attribute_slim UBERON:0005192 biolink:AnatomicalEntity deferent duct artery An artery in males that provides blood to the vas deferens. The artery usually arises from the anterior trunk of the superior vesical artery. It accompanies the vas deferens into the testis, where it anastomoses with the testicular artery. In this way it also supplies blood to the testis and epididymis. A small branch supplies the ureter[WP]. FMA:18930|MA:0001940|EMAPA:37513 hp.json artery of ductus deferens|vas deferens artery|arteria ductus deferentis|ductus deferens artery http://purl.obolibrary.org/obo/UBERON_0005192 human_reference_atlas OBO:uberon/core#filtered_through biolink:NamedThing filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. hp.json http://purl.obolibrary.org/obo/uberon/core#filtered_through UBERON:0005199 biolink:AnatomicalEntity cervical mammary gland A mammary gland that is part of a cervical region. MA:0000789 hp.json http://purl.obolibrary.org/obo/UBERON_0005199 UBERON:0005196 biolink:AnatomicalEntity spleen germinal center A germinal center that is part of the spleen. The spleen germinal center is located in a secondary B follicle in the white pulp of the spleen. MA:0000764|EMAPA:35803|UMLS:C1710156|NCIT:C49760 hp.json splenic germinal center|spleen GC|spleen follicle center|germinal center of spleen http://purl.obolibrary.org/obo/UBERON_0005196 pheno_slim|human_reference_atlas UBERON:0005195 biolink:AnatomicalEntity deferent duct vein A vein that is part of a vas deferens [Automatically generated definition]. EMAPA:37514|MA:0002100 hp.json http://purl.obolibrary.org/obo/UBERON_0005195 UBERON:0005194 biolink:AnatomicalEntity thoracic vein A vein that is part of a thorax [Automatically generated definition]. MA:0002235|SCTID:281472008|NCIT:C53142|UMLS:C0226629|EMAPA:37197 hp.json http://purl.obolibrary.org/obo/UBERON_0005194 UBERON:0005193 biolink:AnatomicalEntity ethmoidal artery One of: anterior or posterior ethmoidal arteries. EMAPA:37081|MA:0001949|UMLS:C0226184|NCIT:C52855 hp.json ethmoid artery http://purl.obolibrary.org/obo/UBERON_0005193 grouping_class CHEBI:4194 biolink:ChemicalSubstance D-hexose A hexose that has D-configuration at position 5. KEGG:C00738 hp.json D-Hexose|D-hexopyranose|D-hexoses|D-hexose http://purl.obolibrary.org/obo/CHEBI_4194 3_STAR UBERON:0017163 biolink:AnatomicalEntity skin bony tubercle A bony structure embedded in skin, roughly equivalent to osteoderms. hp.json bony tubercles|bony tubercle http://purl.obolibrary.org/obo/UBERON_0017163 UBERON:5101463 biolink:AnatomicalEntity manual digit 1 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 1 plus the associated metapodial element. hp.json manual digit 1 skeleton|manual digit 1|manual digit I digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_5101463 UBERON:0005181 biolink:AnatomicalEntity thoracic segment organ An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. EMAPA:37271|MA:0000563 hp.json upper body organ http://purl.obolibrary.org/obo/UBERON_0005181 non_informative UBERON:0005185 biolink:AnatomicalEntity renal medulla collecting duct The portion of the collecting duct that resides in the renal medulla. BTO:0004536|EMAPA:35459|EMAPA:28061|MA:0002935 hp.json kidney medulla collecting duct|medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0005185 UBERON:0005184 biolink:AnatomicalEntity hair medulla Innermost layer of the hair shaft. EMAPA:35389|BTO:0004671|MA:0000158 hp.json medulla of hair shaft http://purl.obolibrary.org/obo/UBERON_0005184 pheno_slim CHEBI:68485 biolink:ChemicalSubstance alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-D-Glcp with beta-configuration at the reducing end anomeric centre. PMID:31537530|GlyTouCan:G00059MO|PMID:19443021|GlyGen:G00059MO|PMID:25568069 hp.json alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranose|alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-D-Glc|Galalpha1-4Galbeta1-4Glcbeta|alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucose|WURCS=2.0/3,3,2/[a2122h-1b_1-5][a2112h-1b_1-5][a2112h-1a_1-5]/1-2-3/a4-b1_b4-c1|Gala1-4Galb1-4Glcb http://purl.obolibrary.org/obo/CHEBI_68485 3_STAR UBERON:0005178 biolink:AnatomicalEntity thoracic cavity element An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. MA:0000557|EMAPA:37273 hp.json thoracic cavity organ http://purl.obolibrary.org/obo/UBERON_0005178 non_informative|pheno_slim UBERON:0005177 biolink:AnatomicalEntity trunk region element An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. MA:0000516|EMAPA:37270 hp.json trunk organ http://purl.obolibrary.org/obo/UBERON_0005177 non_informative|organ_slim UBERON:0005176 biolink:AnatomicalEntity tooth enamel organ A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. MA:0001604|FMA:312389|ZFA:0005138|MESH:D004658|CALOHA:TS-0271|EMAPA:32888|TAO:0005138|BTO:0001722 hp.json organum enameleum|enamel organ|dental organ|odontogenic organ http://purl.obolibrary.org/obo/UBERON_0005176 vertebrate_core|pheno_slim UBERON:0005175 biolink:AnatomicalEntity chest organ An organ that is part of a chest [Automatically generated definition]. EMAPA:37272|MA:0000552 hp.json http://purl.obolibrary.org/obo/UBERON_0005175 non_informative|organ_slim UBERON:0005174 biolink:AnatomicalEntity dorsal region element An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. MA:0001901|EMAPA:37274 hp.json dorsal region organ|back organ http://purl.obolibrary.org/obo/UBERON_0005174 non_informative UBERON:0005173 biolink:AnatomicalEntity abdominal segment element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. EMAPA:37062|MA:0000529 hp.json abdominal segment organ http://purl.obolibrary.org/obo/UBERON_0005173 non_informative UBERON:0005172 biolink:AnatomicalEntity abdomen element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. MA:0000522|SCTID:272631008 hp.json abdomen organ http://purl.obolibrary.org/obo/UBERON_0005172 non_informative UBERON:0005171 biolink:AnatomicalEntity hepatic duct Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). EMAPA:16843|OpenCyc:Mx4rvWo8WJwpEbGdrcN5Y29ycA|MA:0000357|NCIT:C32730|EHDAA2:0000741|EHDAA:3049|UMLS:C0917710|VHOG:0000219|FMA:71891|galen:HepaticDuct hp.json http://purl.obolibrary.org/obo/UBERON_0005171 vertebrate_core|pheno_slim UBERON:5101466 biolink:AnatomicalEntity pedal digit digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit plus the associated metapodial element. hp.json pedal digit|pedal digit skeleton http://purl.obolibrary.org/obo/UBERON_5101466 UBERON:0005179 biolink:AnatomicalEntity pelvic region element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. EMAPA:37275|MA:0000543 hp.json pelvic element|pelvis organ|pelvis region organ http://purl.obolibrary.org/obo/UBERON_0005179 non_informative|organ_slim|pheno_slim PATO:0001408 biolink:NamedThing ciliatedness A cellular quality inhering in a bearer by virtue of the bearer's having thin, tail-like projections extending outwards from the cell body. hp.json http://purl.obolibrary.org/obo/PATO_0001408 value_slim|cell_quality PATO:0001409 biolink:NamedThing spindle-shaped A shape quality inhering in a bearer by virtue of the bearer's resembling a long tapered rod. hp.json http://purl.obolibrary.org/obo/PATO_0001409 value_slim|mpath_slim|cell_quality PATO:0001402 biolink:NamedThing multipotent A cellular potency that is the capacity to form multiple differentiated cell types. hp.json http://purl.obolibrary.org/obo/PATO_0001402 value_slim|cell_quality|disposition_slim PATO:0001400 biolink:NamedThing unipotent A cellular potency that is the capacity to produce only one differentiated cell type. hp.json http://purl.obolibrary.org/obo/PATO_0001400 cell_quality|disposition_slim|value_slim PATO:0001401 biolink:NamedThing oligopotent A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. hp.json http://purl.obolibrary.org/obo/PATO_0001401 cell_quality|disposition_slim|value_slim PATO:0001406 biolink:NamedThing binucleate A nucleate quality inhering in a bearer by virtue of the bearer's having two nuclei. hp.json http://purl.obolibrary.org/obo/PATO_0001406 value_slim|mpath_slim|cell_quality PATO:0001407 biolink:NamedThing mononucleate A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. hp.json http://purl.obolibrary.org/obo/PATO_0001407 value_slim|mpath_slim|cell_quality PATO:0001404 biolink:NamedThing nucleate quality A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. hp.json http://purl.obolibrary.org/obo/PATO_0001404 attribute_slim PATO:0001405 biolink:NamedThing anucleate A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. hp.json http://purl.obolibrary.org/obo/PATO_0001405 value_slim|mpath_slim|cell_quality NCBITaxon:55879 biolink:OrganismalEntity Rhabditoidea GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_55879 UBERON:0005162 biolink:AnatomicalEntity multi cell part structure A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. CARO:0001000|FBbt:00007060|FMA:83115|AAO:0011000 hp.json multi-cell-part structure|cell part cluster|multi-cell-component structure http://purl.obolibrary.org/obo/UBERON_0005162 upper_level UBERON:0005160 biolink:AnatomicalEntity vestigial structure A remnant structure from earlier development or evolution. hp.json http://purl.obolibrary.org/obo/UBERON_0005160 UBERON:0005169 biolink:AnatomicalEntity interstitial tissue Connective tissue between the cellular elements of a structure. FMA:86301 hp.json interstitium http://purl.obolibrary.org/obo/UBERON_0005169 pheno_slim GO:0043891 biolink:MolecularActivity glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+. MetaCyc:GAPDHSYNEC-RXN|EC:1.2.1.59 hp.json glyceraldehyde-3-phosphate dehydrogenase (NAD(P)) (phosphorylating)|triosephosphate dehydrogenase (NAD(P)+)|D-glyceraldehyde 3-phosphate:NAD(P)+ oxidoreductase (phosphorylating)|triosephosphate dehydrogenase (NAD(P))|NAD(P)-dependent glyceraldehyde-3-phosphate dehydrogenase activity http://purl.obolibrary.org/obo/GO_0043891 GO:0006826 biolink:BiologicalProcess iron ion transport The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json iron transport|ferric ion transport|iron ion import|ferric iron transport|ferric iron import|ferric ion import|ferric iron uptake|ferrous iron transport|ferrous ion transport http://purl.obolibrary.org/obo/GO_0006826 GO:0006820 biolink:BiologicalProcess anion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0006820 UBERON:0005233 biolink:AnatomicalEntity medial-nasal process ectoderm An ectoderm that is part of a medial nasal prominence [Automatically generated definition]. EMAPA:16809|VHOG:0000803|EHDAA2:0001078|FMA:312675 hp.json http://purl.obolibrary.org/obo/UBERON_0005233 HP:0003587 biolink:PhenotypicFeature Insidious onset Gradual, very slow onset of disease manifestations. UMLS:C0332164|SNOMEDCT_US:367326009|UMLS:C1298634|SNOMEDCT_US:61751001 hp.json Gradual onset http://purl.obolibrary.org/obo/HP_0003587 UBERON:0005239 biolink:AnatomicalEntity basal plate metencephalon VHOG:0000320|EMAPA:17078|EHDAA2:0001154 hp.json metencephalon basal plate http://purl.obolibrary.org/obo/UBERON_0005239 HP:0003584 biolink:PhenotypicFeature Late onset A type of adult onset with onset of symptoms after the age of 60 years. UMLS:C4025592 hp.json http://purl.obolibrary.org/obo/HP_0003584 UBERON:0005236 biolink:AnatomicalEntity osseus labyrinth vestibule A small, oval, bony chamber of the labyrinth. The vestibule contains the utricle and saccule, organs which are part of the balancing apparatus of the ear. VHOG:0001220|UMLS:C0458718|BTO:0003382|XAO:0000199|GAID:881|MESH:D014722|NCIT:C33873|EV:0100366|MA:0001185|CALOHA:TS-0479|FMA:60183 hp.json vestibule|inner ear vestibule|inner ear vestibulum|vestibular part of bony labyrinth|osseous labyrinth vestibule|bony labyrinth vestibule|vestibulum labyrinthi|vestibule of bony labyrinth|vestibular apparatus|vestibulum auris http://purl.obolibrary.org/obo/UBERON_0005236 pheno_slim HP:0003581 biolink:PhenotypicFeature Adult onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. UMLS:C1853562 hp.json Symptoms begin in adulthood|Onset in early adulthood|Onset in adulthood http://purl.obolibrary.org/obo/HP_0003581 UBERON:0005234 biolink:AnatomicalEntity optic eminence ectoderm An ectoderm that is part of a optic eminence [Automatically generated definition]. EHDAA:940|RETIRED_EHDAA2:0001309|EMAPA:16539|VHOG:0001105 hp.json http://purl.obolibrary.org/obo/UBERON_0005234 GO:0006837 biolink:BiologicalProcess serotonin transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. hp.json http://purl.obolibrary.org/obo/GO_0006837 GO:0006835 biolink:BiologicalProcess dicarboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json sodium:dicarboxylate transport http://purl.obolibrary.org/obo/GO_0006835 GO:0006833 biolink:NamedThing water transport hp.json http://purl.obolibrary.org/obo/GO_0006833 CHEBI:32439 biolink:ChemicalSubstance alaninate An alpha-amino-acid anion that is the conjugate base of alanine, arising from deprotonation of the carboxy group. Gmelin:101040|Beilstein:3903719 hp.json alaninate|2-aminopropanoate|alanine anion http://purl.obolibrary.org/obo/CHEBI_32439 3_STAR UBERON:0005222 biolink:AnatomicalEntity liver left lobe parenchyma A parenchyma that is part of a left lobe of liver [Automatically generated definition]. FMA:71658|VHOG:0000839|EMAPA:18310|EHDAA2:0001002 hp.json parenchyma of left lobe of liver http://purl.obolibrary.org/obo/UBERON_0005222 UBERON:0005221 biolink:AnatomicalEntity liver right lobe parenchyma A parenchyma that is part of a right lobe of liver [Automatically generated definition]. FMA:71657|EHDAA2:0001010|VHOG:0000840|EMAPA:18317 hp.json parenchyma of right lobe of liver http://purl.obolibrary.org/obo/UBERON_0005221 HP:0003596 biolink:PhenotypicFeature Middle age onset A type of adult onset with onset of symptoms at the age of 40 to 60 years. UMLS:C1969363 hp.json http://purl.obolibrary.org/obo/HP_0003596 UBERON:0005229 biolink:AnatomicalEntity lower leg epithelium An epithelium that is part of a lower leg [Automatically generated definition]. EHDAA2:0001031|EMAPA:17497|VHOG:0001050 hp.json http://purl.obolibrary.org/obo/UBERON_0005229 UBERON:0005228 biolink:AnatomicalEntity upper arm epithelium An epithelium that is part of a forelimb stylopod [Automatically generated definition]. EMAPA:17425|VHOG:0000990|EHDAA2:0002113 hp.json http://purl.obolibrary.org/obo/UBERON_0005228 UBERON:0005227 biolink:AnatomicalEntity manual digit epithelium An epithelium that is part of a finger [Automatically generated definition]. EHDAA2:0000406|VHOG:0001032|EMAPA:32647 hp.json finger epithelium|hand digit epithelium|fore limb digit epithelium http://purl.obolibrary.org/obo/UBERON_0005227 UBERON:0005226 biolink:AnatomicalEntity pedal digit epithelium An epithelium that is part of a toe [Automatically generated definition]. VHOG:0001031|EMAPA:32946 hp.json hind limb digit epithelium|toe epithelium|foot digit epithelium http://purl.obolibrary.org/obo/UBERON_0005226 UBERON:0005225 biolink:AnatomicalEntity upper leg epithelium An epithelium that is part of a hindlimb stylopod [Automatically generated definition]. EMAPA:17500|VHOG:0001041|EHDAA2:0002131 hp.json http://purl.obolibrary.org/obo/UBERON_0005225 HP:0003593 biolink:PhenotypicFeature Infantile onset Onset of signs or symptoms of disease between 28 days to one year of life. UMLS:C1848924 hp.json Infantile onset|Onset in infancy|Onset in first year of life http://purl.obolibrary.org/obo/HP_0003593 GO:0006801 biolink:BiologicalProcess superoxide metabolic process The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. hp.json superoxide free radical metabolism|oxygen free radical metabolic process|oxygen free radical metabolism|superoxide metabolism|superoxide free radical metabolic process http://purl.obolibrary.org/obo/GO_0006801 HP:0003566 biolink:PhenotypicFeature Increased serum prostaglandin E2 An increased concentration of prostaglandin E2 in the blood. UMLS:C3150358 hp.json Elevated prostaglandin E2 http://purl.obolibrary.org/obo/HP_0003566 UBERON:0005211 biolink:AnatomicalEntity renal medulla interstitium Tissue surrounding the loop of Henle in the renal medulla. EMAPA:18326|MA:0002619 hp.json kidney medulla interstitium|medullary stroma|medullary interstitium|renal medullary interstitial tissue|renal medullary interstitium http://purl.obolibrary.org/obo/UBERON_0005211 HP:0003565 biolink:PhenotypicFeature Elevated erythrocyte sedimentation rate An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. UMLS:C0151632|SNOMEDCT_US:165468009 hp.json Increased erythrocyte sedimentation rate|High erythrocyte sedimentation rate|Elevated sedimentation rate|Elevated ESR|Raised erythrocyte sedimentation rate|High ESR http://purl.obolibrary.org/obo/HP_0003565 HP:0003564 biolink:PhenotypicFeature Folate-dependent fragile site at Xq28 The presence of a folate sensitive fragile site at chromosome Xq28. UMLS:C1839785 hp.json http://purl.obolibrary.org/obo/HP_0003564 HP:0003563 biolink:PhenotypicFeature Decreased LDL cholesterol concentration An decreased concentration of low-density lipoprotein cholesterol in the blood. SNOMEDCT_US:190786004|UMLS:C0853085|UMLS:C0020597|MSH:D006995 hp.json Hypobetalipoproteinemia|Decreased circulating low-density lipoprotein levels|Decreased LDLc concentration|Decreased LDL http://purl.obolibrary.org/obo/HP_0003563 PR:P25918 biolink:Protein B-lymphocyte antigen CD19 (mouse) A CD19 molecule that is encoded in the genome of mouse. UniProtKB:P25918 hp.json differentiation antigen CD19 (mouse)|mCD19|Cd19|CD19 (mouse) http://purl.obolibrary.org/obo/PR_P25918 HP:0003568 biolink:PhenotypicFeature Decreased glucosephosphate isomerase level A decreased level of glucose-6-phosphate isomerase. SNOMEDCT_US:124669001|UMLS:C1291611 hp.json Glucosephosphate isomerase deficiency|Phosphohexose isomerase deficiency|Decreased glucose phosphate isomerase activity http://purl.obolibrary.org/obo/HP_0003568 UBERON:0005219 biolink:AnatomicalEntity hindbrain subarachnoid space A subarachnoid space that is part of a hindbrain [Automatically generated definition]. VHOG:0001303|EMAPA:18211 hp.json subarachnoid space hindbrain|subarachnoid space rhombencephalon http://purl.obolibrary.org/obo/UBERON_0005219 UBERON:0005218 biolink:AnatomicalEntity diencephalon subarachnoid space A subarachnoid space that is part of a diencephalon [Automatically generated definition]. EMAPA:19053|VHOG:0001302 hp.json subarachnoid space diencephalon http://purl.obolibrary.org/obo/UBERON_0005218 UBERON:0005217 biolink:AnatomicalEntity midbrain subarachnoid space A subarachnoid space that is part of a midbrain [Automatically generated definition]. EMAPA:19055|VHOG:0001304 hp.json subarachnoid space mesencephalon|subarachnoid space midbrain http://purl.obolibrary.org/obo/UBERON_0005217 UBERON:0005216 biolink:AnatomicalEntity optic eminence surface ectoderm An external ectoderm that is part of a optic eminence [Automatically generated definition]. VHOG:0000520|RETIRED_EHDAA2:0001311|EMAPA:16539 hp.json http://purl.obolibrary.org/obo/UBERON_0005216 UBERON:0005215 biolink:AnatomicalEntity kidney interstitium The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. MA:0002616|NCIT:C33459|FMA:70983|EMAPA:28518 hp.json renal stroma|kidney interstitium group|renal interstitial tissue|interstitial tissue of kidney|stroma of kidney|renal interstitium http://purl.obolibrary.org/obo/UBERON_0005215 pheno_slim|human_reference_atlas GO:0006807 biolink:BiologicalProcess nitrogen compound metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. hp.json nitrogen compound metabolism http://purl.obolibrary.org/obo/GO_0006807 goslim_metagenomics|goslim_pir HP:0003562 biolink:PhenotypicFeature Abnormal metaphyseal vascular invasion UMLS:C3277127 hp.json http://purl.obolibrary.org/obo/HP_0003562 UBERON:0005214 biolink:AnatomicalEntity inner renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. MA:0002620|EMAPA:28364 hp.json kidney inner medulla interstitium|papillary interstitium|inner medullary interstitium http://purl.obolibrary.org/obo/UBERON_0005214 HP:0003561 biolink:PhenotypicFeature Birth length less than 3rd percentile UMLS:C1855650 hp.json Birth length < 3rd percentile|Birth length <3rd percentile http://purl.obolibrary.org/obo/HP_0003561 HP:0003560 biolink:PhenotypicFeature Muscular dystrophy The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. UMLS:C0026850|MSH:D009136|SNOMEDCT_US:193225000|SNOMEDCT_US:73297009|UMLS:C1864711 hp.json Muscle biopsy shows dystrophic changes http://purl.obolibrary.org/obo/HP_0003560 UBERON:0005212 biolink:AnatomicalEntity Leydig cell region of testis The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.. MA:0002713|EMAPA:18687 hp.json interstitium of the testis|testis - interstitial|interstitium of testis|testis interstitial tissue|testis interstitium http://purl.obolibrary.org/obo/UBERON_0005212 pheno_slim GO:0006812 biolink:BiologicalProcess cation transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json di-, tri-valent inorganic cation transport|trivalent inorganic cation transport http://purl.obolibrary.org/obo/GO_0006812 GO:0006810 biolink:BiologicalProcess transport The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein. hp.json solute:solute exchange|small molecule transport|single-organism transport http://purl.obolibrary.org/obo/GO_0006810 goslim_generic|goslim_candida|prokaryote_subset|gocheck_do_not_annotate|goslim_plant|goslim_pir|goslim_metagenomics|goslim_aspergillus|goslim_chembl GO:0006811 biolink:BiologicalProcess ion transport The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0006811 goslim_yeast|goslim_pir|goslim_drosophila HP:0003577 biolink:PhenotypicFeature Congenital onset A phenotypic abnormality that is present at birth. UMLS:C2752013|UMLS:C1836142 hp.json Symptoms present at birth|Onset at birth http://purl.obolibrary.org/obo/HP_0003577 UBERON:0005200 biolink:AnatomicalEntity thoracic mammary gland A lactiferous gland that is located in the thoracic region/breast. FMA:62088|EMAPA:36633|MA:0000797|EHDAA:6524|EHDAA2:0001056 hp.json breast mammary gland|lactiferous gland|mammary gland|anterior mammary gland http://purl.obolibrary.org/obo/UBERON_0005200 pheno_slim HP:0003575 biolink:PhenotypicFeature Increased intracellular sodium An abnormally increased sodium concentration in the cytosol. UMLS:C4025593 hp.json High intracellular Na|Increased intracellular Na+ levels http://purl.obolibrary.org/obo/HP_0003575 HP:0003574 biolink:PhenotypicFeature Positive regitine blocking test A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. UMLS:C4025594 hp.json http://purl.obolibrary.org/obo/HP_0003574 UBERON:0005208 biolink:AnatomicalEntity right atrium valve A valve that is part of a right atrium [Automatically generated definition]. EMAPA:17327|EHDAA2:0000302|MA:0001871 hp.json right atrium valves|superior vena cava valve|valve of right atrium http://purl.obolibrary.org/obo/UBERON_0005208 UBERON:0005207 biolink:AnatomicalEntity tonsil capsule A capsule that is part of a tonsil [Automatically generated definition]. MA:0000776|FMA:294647 hp.json http://purl.obolibrary.org/obo/UBERON_0005207 UBERON:0005206 biolink:AnatomicalEntity choroid plexus stroma Stromal matrix surrounding blood vessels within the choroid plexus. MA:0000825|EMAPA:36609 hp.json choroid plexus stromal matrix http://purl.obolibrary.org/obo/UBERON_0005206 UBERON:0005205 biolink:AnatomicalEntity lamina propria of vagina FMA:19979|MA:0002737|EMAPA:35902 hp.json vagina stroma http://purl.obolibrary.org/obo/UBERON_0005205 UBERON:0005204 biolink:AnatomicalEntity larynx submucosa gland A gland that is part of a larynx submucosa [Automatically generated definition]. MA:0002729|EMAPA:35475 hp.json laryngeal submucosa gland http://purl.obolibrary.org/obo/UBERON_0005204 organ_slim HP:0003573 biolink:PhenotypicFeature Increased total bilirubin Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. UMLS:C0741494|SNOMEDCT_US:176271000119108 hp.json Increased bilirubin|High bili total http://purl.obolibrary.org/obo/HP_0003573 UBERON:0005203 biolink:AnatomicalEntity trachea gland A tubuloacinar seromucous gland that is located principally in the submucosa of the trachea. Excretory ducts from this gland pass through the lamina propria to the tracheal lumen. MA:0002937|EMAPA:36574|FMA:7473 hp.json tubular seromucous gland of trachea|tracheal gland|glandula trachealis http://purl.obolibrary.org/obo/UBERON_0005203 human_reference_atlas|organ_slim|pheno_slim HP:0003572 biolink:PhenotypicFeature Low plasma citrulline A decreased concentration of citrulline in the blood. UMLS:C1839532 hp.json http://purl.obolibrary.org/obo/HP_0003572 HP:0003571 biolink:PhenotypicFeature Propionic acidemia Increased concentration of proprionic acid in the blood circulation. SNOMEDCT_US:69080001|UMLS:C0268579|MSH:D056693|SNOMEDCT_US:124718009 hp.json http://purl.obolibrary.org/obo/HP_0003571 GO:0006817 biolink:BiologicalProcess phosphate ion transport The directed movement of phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json phosphate transport http://purl.obolibrary.org/obo/GO_0006817 HP:0003570 biolink:PhenotypicFeature Molybdenum cofactor deficiency Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. SNOMEDCT_US:29692004|UMLS:C0268119|MSH:C535811 hp.json http://purl.obolibrary.org/obo/HP_0003570 UBERON:0005277 biolink:AnatomicalEntity dorsal skin of toe A dorsal skin of digit that is part of a pedal digit. FMA:37868|FMA:60523 hp.json skin of dorsal part of toe|subdivision of skin of dorsal part of toe|dorsal toe skin http://purl.obolibrary.org/obo/UBERON_0005277 UBERON:0005276 biolink:AnatomicalEntity dorsal skin of finger A dorsal skin of digit that is part of a manual digit. FMA:38320|FMA:60346 hp.json dorsal finger skin|subdivision of skin of dorsal part of finger|skin of dorsal part of finger http://purl.obolibrary.org/obo/UBERON_0005276 UBERON:0005275 biolink:AnatomicalEntity dorsal skin of digit hp.json dorsal digit skin|skin of dorsal part of digit http://purl.obolibrary.org/obo/UBERON_0005275 UBERON:0005273 biolink:AnatomicalEntity nail bed Region of skin beneath the nail plate[WP]. MA:0002706|VHOG:0001362|EMAPA:35581|EV:0100158 hp.json nailbed http://purl.obolibrary.org/obo/UBERON_0005273 pheno_slim UBERON:0005270 biolink:AnatomicalEntity renal cortex interstitium A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. MA:0002608|EMAPA:28136 hp.json renal cortical interstitial tissue|kidney cortex interstitium|cortical stroma http://purl.obolibrary.org/obo/UBERON_0005270 UBERON:0005279 biolink:AnatomicalEntity nail bed of toe A nail bed that is part of a pedal digit. FMA:60529 hp.json nail bed of toe http://purl.obolibrary.org/obo/UBERON_0005279 NCBITaxon:55885 biolink:OrganismalEntity Peloderinae GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_55885 UBERON:0005278 biolink:AnatomicalEntity nail bed of finger A nail bed that is part of a manual digit. FMA:60348 hp.json nail bed of finger http://purl.obolibrary.org/obo/UBERON_0005278 UBERON:0005269 biolink:AnatomicalEntity renal cortex vein Artery that receives blood from the renal cortex[MP, modified]. EMAPA:28152|MA:0002592 hp.json renal cortex venous system|kidney cortex vein http://purl.obolibrary.org/obo/UBERON_0005269 pheno_slim UBERON:0005268 biolink:AnatomicalEntity renal cortex artery An artery that supplies the renal cortex. MA:0002582|EMAPA:28147 hp.json renal cortex arterial system|renal cortex artery|kidney cortex artery http://purl.obolibrary.org/obo/UBERON_0005268 pheno_slim UBERON:0005255 biolink:AnatomicalEntity pedal digit mesenchyme Mesenchyme that is part of a developing toe [Automatically generated definition]. EMAPA:32947|VHOG:0000463 hp.json toe mesenchyme|foot digit mesenchyme|finger ray mesenchyme|hind limb digit mesenchyme|pedal digital ray mesenchyme http://purl.obolibrary.org/obo/UBERON_0005255 UBERON:0005254 biolink:AnatomicalEntity upper leg mesenchyme Mesenchyme that is part of a developing hindlimb stylopod [Automatically generated definition]. VHOG:0000506|EHDAA2:0002132|EMAPA:17501 hp.json http://purl.obolibrary.org/obo/UBERON_0005254 UBERON:0005253 biolink:AnatomicalEntity head mesenchyme Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. TAO:0000113|EHDAA:179|EMAPA:16098|EMAPA_RETIRED:16269|FMA:76622|VHOG:0000332|ZFA:0000113|EFO:0003492|EHDAA2:0000732 hp.json cephalic mesenchyme|cranial mesenchyme|desmocranium http://purl.obolibrary.org/obo/UBERON_0005253 pheno_slim|efo_slim|vertebrate_core UBERON:0005251 biolink:AnatomicalEntity yolk sac cavity An anatomical cavity that is part of a yolk sac [Automatically generated definition]. EMAPA:16055|FMA:63942|VHOG:0000843 hp.json yolk sac lumen|yolk sac space|cavity of yolk sac http://purl.obolibrary.org/obo/UBERON_0005251 UBERON:0005250 biolink:AnatomicalEntity stomatodeum gland A gland that is part of a stomodeum. VHOG:0000658 hp.json stomatodaeum gland http://purl.obolibrary.org/obo/UBERON_0005250 organ_slim UBERON:0005259 biolink:AnatomicalEntity lower leg mesenchyme Mesenchyme that is part of a developing lower leg [Automatically generated definition]. EMAPA:17498|EHDAA2:0001032|VHOG:0000752 hp.json http://purl.obolibrary.org/obo/UBERON_0005259 UBERON:0005258 biolink:AnatomicalEntity upper arm mesenchyme Mesenchyme that is part of a developing forelimb stylopod [Automatically generated definition]. VHOG:0000505|EHDAA2:0002114|EMAPA:17426 hp.json http://purl.obolibrary.org/obo/UBERON_0005258 UBERON:0005257 biolink:AnatomicalEntity manual digit mesenchyme Mesenchyme that is part of a developing finger [Automatically generated definition]. EMAPA:32645|VHOG:0001416|EHDAA2:0000407 hp.json finger mesenchyme|hand digit mesenchyme|finger ray mesenchyme|fore limb digit mesenchyme|manual digital ray mesenchyme|anterior limb digital ray mesenchyme http://purl.obolibrary.org/obo/UBERON_0005257 UBERON:0005256 biolink:AnatomicalEntity trunk mesenchyme Mesenchyme that is part of a developing trunk. EMAPA:16177|VHOG:0000281|EHDAA:377|ZFA:0000081|EFO:0003485|TAO:0000081|EHDAA2:0002092 hp.json trunk and cervical mesenchyme http://purl.obolibrary.org/obo/UBERON_0005256 efo_slim|vertebrate_core CHEBI:68452 biolink:ChemicalSubstance azole Any monocyclic heteroarene consisting of a five-membered ring containing nitrogen. Azoles can also contain one or more other non-carbon atoms, such as nitrogen, sulfur or oxygen. Wikipedia:Azole hp.json azoles http://purl.obolibrary.org/obo/CHEBI_68452 3_STAR UBERON:0005243 biolink:AnatomicalEntity interventricular septum endocardium An endocardium that is part of a interventricular septum [Automatically generated definition]. EHDAA2:0000887|EHDAA2:0000886|VHOG:0000615|FMA:83584 hp.json interventricular septum endocardial tissue|endocardium of interventricular septum http://purl.obolibrary.org/obo/UBERON_0005243 UBERON:0005249 biolink:AnatomicalEntity metanephric renal pelvis A renal pelvis that is part of a metanephros. VHOG:0000945 hp.json metanephros pelvis http://purl.obolibrary.org/obo/UBERON_0005249 UBERON:0005248 biolink:AnatomicalEntity bulbus cordis myocardium A myocardium that is part of a bulbus cordis [Automatically generated definition]. VHOG:0000609|EMAPA:36488 hp.json bulbus cordis cardiac muscle http://purl.obolibrary.org/obo/UBERON_0005248 GO:0090162 biolink:BiologicalProcess establishment of epithelial cell polarity The specification and formation of anisotropic intracellular organization of an epithelial cell. hp.json http://purl.obolibrary.org/obo/GO_0090162 HP:0003508 biolink:PhenotypicFeature Proportionate short stature A kind of short stature in which different regions of the body are shortened to a comparable extent. UMLS:C0878660 hp.json Short stature, proportionate|Proportionate small stature http://purl.obolibrary.org/obo/HP_0003508 UBERON:0007806 biolink:AnatomicalEntity connecting stalk A bridge of mesoderm connecting the caudal end of the young embryo with the trophoblastic tissues; the precursor of the umbilical cord. BTO:0004705|NCIT:C34132|UMLS:C1516792 hp.json http://purl.obolibrary.org/obo/UBERON_0007806 UBERON:0007807 biolink:AnatomicalEntity connecting stalk vasculature A vasculature that is part of a connecting stalk. EHDAA2:0000313 hp.json connecting stalk blood vessel|vasculature of connecting stalk|connecting stalk blood vessels http://purl.obolibrary.org/obo/UBERON_0007807 UBERON:0007808 biolink:AnatomicalEntity adipose tissue of abdominal region Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots. CALOHA:TS-0002|EFO:0003771 hp.json abdominal adipose tissue|intra-abdominal fat|abdominal fat http://purl.obolibrary.org/obo/UBERON_0007808 efo_slim UBERON:0007811 biolink:AnatomicalEntity craniocervical region The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. galen:HeadAndNeck|FMA:280881|SCTID:361355005|NCIT:C12418|WikipediaCategory:Head_and_neck|MA:0000006|CALOHA:TS-2356|EV:0100009|UMLS:C0460004 hp.json cephalic region|cephalic part of animal|head or neck|cephalic area|cephalic region|cephalic part of animal|cephalic area|head and neck http://purl.obolibrary.org/obo/UBERON_0007811 pheno_slim UBERON:0007812 biolink:AnatomicalEntity post-anal tail A tail that extends from the posterior tip of the organism to the anus, contains muscle and skeleton. NCIT:C77663|EMAPA:16748|UMLS:C0039259|MA:0000008|ZFA:0001117|TAO:0001117|AAO:0010338|XAO:0003026 hp.json postanal tail|muscular postanal tail|post-anal fin tail|post-vent region http://purl.obolibrary.org/obo/UBERON_0007812 pheno_slim|vertebrate_core HP:0003502 biolink:PhenotypicFeature Mild short stature A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. UMLS:C3150077|UMLS:C4020838 hp.json short stature, mild|Relative short stature http://purl.obolibrary.org/obo/HP_0003502 GO:0090166 biolink:BiologicalProcess Golgi disassembly A cellular process that results in the breakdown of a Golgi apparatus that contributes to Golgi inheritance. hp.json http://purl.obolibrary.org/obo/GO_0090166 GO:0090168 biolink:BiologicalProcess Golgi reassembly The reformation of the Golgi following its breakdown and partitioning contributing to Golgi inheritance. hp.json http://purl.obolibrary.org/obo/GO_0090168 GO:0090170 biolink:BiologicalProcess regulation of Golgi inheritance Any process that modulates the rate, frequency or extent of Golgi inheritance. Golgi inheritance is the partitioning of Golgi apparatus between daughter cells at cell division. hp.json http://purl.obolibrary.org/obo/GO_0090170 GO:0090171 biolink:BiologicalProcess chondrocyte morphogenesis The process in which the structures of a chondrocyte are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a chondrocyte. hp.json http://purl.obolibrary.org/obo/GO_0090171 HP:0003517 biolink:PhenotypicFeature Birth length greater than 97th percentile UMLS:C1839271 hp.json Fetal overgrowth|Foetal overgrowth http://purl.obolibrary.org/obo/HP_0003517 HP:0003510 biolink:PhenotypicFeature Severe short stature A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. UMLS:C0013336|SNOMEDCT_US:237837007|SNOMEDCT_US:237836003|SNOMEDCT_US:422065006|MSH:D004392 hp.json Proportionate dwarfism|Severe short stature|Short stature, severe|Dwarfism|Short stature, extreme http://purl.obolibrary.org/obo/HP_0003510 HP:0003514 biolink:PhenotypicFeature Deficiency or absence of cytochrome b(-245) UMLS:C1844390 hp.json Deficiency or absence of cytochrome b http://purl.obolibrary.org/obo/HP_0003514 HP:0003513 biolink:PhenotypicFeature Reduced ratio of renal calcium clearance to creatinine clearance A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. UMLS:C4025605 hp.json Reduced ration of renal Ca clearance to creatinine clearance|Reduced ration of kidney calcium clearance to creatinine clearance|Reduced ration of renal Ca2+ to creatinine clearance http://purl.obolibrary.org/obo/HP_0003513 GO:0090174 biolink:BiologicalProcess organelle membrane fusion The joining of two lipid bilayers to form a single organelle membrane. hp.json http://purl.obolibrary.org/obo/GO_0090174 GO:0016234 biolink:CellularComponent inclusion body A discrete intracellular part formed of aggregated molecules such as proteins or other biopolymers. NIF_Subcellular:sao120573470|Wikipedia:Inclusion_bodies hp.json neuronal cytoplasmic inclusion|cellular inclusion http://purl.obolibrary.org/obo/GO_0016234 GO:0006887 biolink:BiologicalProcess exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. Wikipedia:Exocytosis hp.json nonselective vesicle exocytosis|vesicle exocytosis http://purl.obolibrary.org/obo/GO_0006887 goslim_yeast GO:0006886 biolink:BiologicalProcess intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. hp.json copper-induced intracellular protein transport http://purl.obolibrary.org/obo/GO_0006886 goslim_generic GO:0016202 biolink:BiologicalProcess regulation of striated muscle tissue development Any process that modulates the frequency, rate or extent of striated muscle development. hp.json http://purl.obolibrary.org/obo/GO_0016202 HGNC:4458 biolink:Gene GPI (human) A protein coding gene GPI in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4458 GO:0090150 biolink:BiologicalProcess establishment of protein localization to membrane The directed movement of a protein to a specific location in a membrane. hp.json establishment of protein localisation in membrane|establishment of protein localization in membrane http://purl.obolibrary.org/obo/GO_0090150 GO:0006896 biolink:BiologicalProcess Golgi to vacuole transport The directed movement of substances from the Golgi to the vacuole. hp.json Golgi to vacuole vesicle-mediated transport http://purl.obolibrary.org/obo/GO_0006896 GO:0006892 biolink:BiologicalProcess post-Golgi vesicle-mediated transport The directed movement of substances from the Golgi to other parts of the cell, including organelles and the plasma membrane, mediated by small transport vesicles. hp.json post-Golgi transport http://purl.obolibrary.org/obo/GO_0006892 GO:0006893 biolink:BiologicalProcess Golgi to plasma membrane transport The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis. hp.json Golgi to plasma membrane vesicle-mediated transport http://purl.obolibrary.org/obo/GO_0006893 GO:0006869 biolink:BiologicalProcess lipid transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. hp.json http://purl.obolibrary.org/obo/GO_0006869 goslim_pir|goslim_drosophila|goslim_yeast GO:0006865 biolink:BiologicalProcess amino acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0006865 goslim_pir|goslim_yeast GO:0006860 biolink:BiologicalProcess extracellular amino acid transport The directed extracellular movement of amino acids. hp.json http://purl.obolibrary.org/obo/GO_0006860 HP:0003549 biolink:PhenotypicFeature Abnormality of connective tissue Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). UMLS:C4025596 hp.json http://purl.obolibrary.org/obo/HP_0003549 HP:0003542 biolink:PhenotypicFeature Increased serum pyruvate An increased concentration of pyruvate in the blood. UMLS:C1849488 hp.json Increased serum pyruvic acid http://purl.obolibrary.org/obo/HP_0003542 HP:0003541 biolink:PhenotypicFeature Urinary glycosaminoglycan excretion Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. UMLS:C4025598 hp.json http://purl.obolibrary.org/obo/HP_0003541 HP:0003548 biolink:PhenotypicFeature Subsarcolemmal accumulations of abnormally shaped mitochondria An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. UMLS:C4025597 hp.json http://purl.obolibrary.org/obo/HP_0003548 HP:0003547 biolink:PhenotypicFeature Shoulder girdle muscle weakness The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. SNOMEDCT_US:249940002|UMLS:C0427063|UMLS:C0748691 hp.json Shoulder weakness|Muscle weakness, shoulder-girdle|Weak shoulder muscles|Shoulder girdle weakness http://purl.obolibrary.org/obo/HP_0003547 HP:0003546 biolink:PhenotypicFeature Exercise intolerance A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. SNOMEDCT_US:267044007|UMLS:C0424551 hp.json Inability to exercise|Low exercise endurance|Decreased ability to exercise|Poor exercise tolerance http://purl.obolibrary.org/obo/HP_0003546 PATO:0001374 biolink:NamedThing ploidy A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. hp.json http://purl.obolibrary.org/obo/PATO_0001374 attribute_slim PATO:0001375 biolink:NamedThing haploid A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of homologous chromosomes. hp.json http://purl.obolibrary.org/obo/PATO_0001375 cell_quality|value_slim HP:0003540 biolink:PhenotypicFeature Impaired platelet aggregation An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. UMLS:C1855853 hp.json Platelet aggregation defect|Deficient platelet aggregation|Defective platelet aggregation http://purl.obolibrary.org/obo/HP_0003540 GO:0006879 biolink:BiologicalProcess cellular iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. hp.json iron homeostasis http://purl.obolibrary.org/obo/GO_0006879 GO:0006874 biolink:BiologicalProcess cellular calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. hp.json regulation of calcium ion concentration http://purl.obolibrary.org/obo/GO_0006874 GO:0006875 biolink:BiologicalProcess cellular metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. hp.json cellular heavy metal ion homeostasis http://purl.obolibrary.org/obo/GO_0006875 GO:0006873 biolink:BiologicalProcess cellular ion homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. hp.json http://purl.obolibrary.org/obo/GO_0006873 goslim_yeast HP:0003555 biolink:PhenotypicFeature Muscle fiber splitting Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. UMLS:C1836057 hp.json Muscle fibre splitting|Fibre splitting|Fiber splitting http://purl.obolibrary.org/obo/HP_0003555 UBERON:0007842 biolink:AnatomicalEntity membrane bone Bone element that arises as a result of intramembranous ossification. ZFA:0001636|VSAO:0000023|EHDAA2:0003085|TAO:0001645|AEO:0000085|XAO:0004014 hp.json membrane bones http://purl.obolibrary.org/obo/UBERON_0007842 HP:0003554 biolink:PhenotypicFeature Type 2 muscle fiber atrophy Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. UMLS:C1864580 hp.json Type 2 muscle fibre atrophy|Type 2 fiber atrophy|Type 2 fibre atrophy http://purl.obolibrary.org/obo/HP_0003554 HP:0003553 biolink:PhenotypicFeature obsolete Cellulitis due to immunodeficiency hp.json http://purl.obolibrary.org/obo/HP_0003553 UBERON:0007844 biolink:AnatomicalEntity cartilage element Skeletal element that is composed of cartilage tissue and may be permanent or transient. FMA:55107|CALOHA:TS-0118|EMAPA:32730|AAO:0011130|VSAO:0000000|ZFA:0001501|XAO:0004013 hp.json cartilage|cartilage organ|cartilaginous element|cartilaginous element|chondrogenic element http://purl.obolibrary.org/obo/UBERON_0007844 pheno_slim|organ_slim HP:0003552 biolink:PhenotypicFeature Muscle stiffness A condition in which muscles cannot be moved quickly without accompanying pain or spasm. UMLS:C0221170|SNOMEDCT_US:16046003 hp.json http://purl.obolibrary.org/obo/HP_0003552 UBERON:0007845 biolink:AnatomicalEntity regular connective tissue Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. FMA:20103 hp.json http://purl.obolibrary.org/obo/UBERON_0007845 HP:0003559 biolink:PhenotypicFeature Muscle hyperirritability UMLS:C1853701 hp.json http://purl.obolibrary.org/obo/HP_0003559 UBERON:0007846 biolink:AnatomicalEntity dense regular connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). UMLS:C0225333|XAO:0004030|SCTID:22560007|FMA:64781|Wikipedia:Dense_regular_connective_tissue|VSAO:0000050|NCIT:C33453 hp.json dense regular collagenous tissue|dense regular collagenous connective tissue|typus regularis (textus connectivus collagenosus compactus)|regular dense connective tissue|dense fibrous connective tissue http://purl.obolibrary.org/obo/UBERON_0007846 HP:0003558 biolink:PhenotypicFeature Viral infection-induced rhabdomyolysis Rhabdomyolysis induced by a viral infection. UMLS:C4025595 hp.json http://purl.obolibrary.org/obo/HP_0003558 HP:0003557 biolink:PhenotypicFeature Increased variability in muscle fiber diameter An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. UMLS:C1843700 hp.json Increased variation in muscle fibre size|Increased variability in muscle fiber size|Increased variability in muscle fibre size|Increased fiber size variation|Increased variability in muscle fibre diameter|Variation in muscle fiber size|Increased variation in fiber size|Increased variation in muscle fiber size|Variation in muscle fibre size|Increased fibre size variation|Increased variation in fibre size http://purl.obolibrary.org/obo/HP_0003557 HP:0003551 biolink:PhenotypicFeature Difficulty climbing stairs Reduced ability to climb stairs. SNOMEDCT_US:282195009|UMLS:C0239067 hp.json Difficulty walking up stairs http://purl.obolibrary.org/obo/HP_0003551 HP:0003550 biolink:PhenotypicFeature Predominantly lower limb lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. UMLS:C1835228 hp.json http://purl.obolibrary.org/obo/HP_0003550 GO:0090181 biolink:BiologicalProcess regulation of cholesterol metabolic process Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. hp.json http://purl.obolibrary.org/obo/GO_0090181 UBERON:0007827 biolink:AnatomicalEntity external nose External part of the nose containing the external nares. NCIT:C32566|EMAPA:37831|FMA:59515|UMLS:C0458561 hp.json nose http://purl.obolibrary.org/obo/UBERON_0007827 pheno_slim HP:0003529 biolink:PhenotypicFeature Parathormone-independent increased renal tubular calcium reabsorption An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. UMLS:C4025604 hp.json Parathormone-independent increased renal tubular Ca2+ reabsorption|Parathormone-independent increased renal tubular Ca reabsorption http://purl.obolibrary.org/obo/HP_0003529 UBERON:0007828 biolink:AnatomicalEntity girdle bone/zone A bone that is part of a appendage girdle region. MA:0000291|EMAPA:35379 hp.json girdle bone http://purl.obolibrary.org/obo/UBERON_0007828 UBERON:0007829 biolink:AnatomicalEntity pectoral girdle bone A bone that is part of a pectoral girdle region. EMAPA:35669|MA:0000292 hp.json bone of pectoral girdle http://purl.obolibrary.org/obo/UBERON_0007829 vertebrate_core HP:0003528 biolink:PhenotypicFeature Elevated calcitonin UMLS:C1868394 hp.json Elevated calcitonin http://purl.obolibrary.org/obo/HP_0003528 HP:0003527 biolink:PhenotypicFeature Hyperprostaglandinuria An increased concentration of prostaglandin in the urine. UMLS:C1866498 hp.json High urine prostaglandin levels http://purl.obolibrary.org/obo/HP_0003527 UBERON:0007830 biolink:AnatomicalEntity pelvic girdle bone/zone A bone element or fused bone that is part of pelvic girdle. NCIT:C33287|MA:0000293|EMAPA:18028|SCTID:426214007|UMLS:C0030786 hp.json bone of pelvic girdle|pelvic girdle bone http://purl.obolibrary.org/obo/UBERON_0007830 pheno_slim|vertebrate_core UBERON:0007831 biolink:AnatomicalEntity pectoral girdle skeleton A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. EHDAA2:0001420|ZFA:0000407|XAO:0003063|TAO:0000407|VSAO:0000156|VHOG:0001156|MAT:0000181|NCIT:C33547|EFO:0000946|FMA:24141|MIAA:0000181|AAO:0000754|UMLS:C0427245|AAO:0000422 hp.json pectoral girdle|cingulum pectorale|scapular girdle|skeletal parts of pectoral girdle|skeleton of pectoral girdle http://purl.obolibrary.org/obo/UBERON_0007831 efo_slim|vertebrate_core CHEBI:32440 biolink:ChemicalSubstance alaninium An alpha-amino-acid cation that is the conjugate acid of alanine. Gmelin:362663 hp.json alanine cation|alaninium|1-carboxyethanaminium http://purl.obolibrary.org/obo/CHEBI_32440 3_STAR HP:0003521 biolink:PhenotypicFeature Disproportionate short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. UMLS:C1846435 hp.json Disproportionate short-trunked short stature|Disproportionate short-trunked dwarfism|Short-trunked dwarfism http://purl.obolibrary.org/obo/HP_0003521 UBERON:0007832 biolink:AnatomicalEntity pelvic girdle skeleton Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. VHOG:0000305|EHDAA:7149|XAO:0003064|EHDAA:8324|galen:PelvicGirdle|VSAO:0000155|MAT:0000182|EFO:0000947|EMAPA:18028|ZFA:0000565|FMA:87592|AAO:0000768|EHDAA2:0001426|MIAA:0000182|AAO:0000426|TAO:0000565|Wikipedia:Pelvis|http://people.eku.edu/ritchisong/pectoralgirdles.gif hp.json pelvic girdle skeleton|skeleton of pelvic girdle|skeletal parts of pelvic girdle|pelvic girdle|skeleton of pelvic girdle|skeletal parts of pelvic girdle http://purl.obolibrary.org/obo/UBERON_0007832 efo_slim|vertebrate_core PATO:0001393 biolink:NamedThing euploid A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. hp.json http://purl.obolibrary.org/obo/PATO_0001393 cell_quality|value_slim HP:0003526 biolink:PhenotypicFeature Orotic acid crystalluria Formation of crystals owing to an increased concentration of orotic acid in the urine. UMLS:C3278626 hp.json http://purl.obolibrary.org/obo/HP_0003526 HP:0003524 biolink:PhenotypicFeature Decreased methionine synthase activity A reduction in methionine synthase activity. UMLS:C1848580 hp.json Methionine synthase activity decreased|Decreased activity of methionine synthase|Reduced methionine synthase activity|Methionine synthase deficiency http://purl.obolibrary.org/obo/HP_0003524 PATO:0001396 biolink:NamedThing cellular quality A monadic quality of continuant that exists at the cellular level of organisation. hp.json http://purl.obolibrary.org/obo/PATO_0001396 PATO:0001397 biolink:NamedThing cellular potency A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. hp.json http://purl.obolibrary.org/obo/PATO_0001397 disposition_slim|attribute_slim GO:0006858 biolink:BiologicalProcess extracellular transport The transport of substances that occurs outside cells. hp.json http://purl.obolibrary.org/obo/GO_0006858 CHEBI:32458 biolink:ChemicalSubstance cysteinium Gmelin:325859 hp.json 1-carboxy-2-mercaptoethanaminium|1-carboxy-2-sulfanylethanaminium|cysteinium|H2cys(+)|cysteine cation http://purl.obolibrary.org/obo/CHEBI_32458 3_STAR HP:0003538 biolink:PhenotypicFeature Increased iduronate sulfatase level An increased level of iduronate-2-sulfatase activity in the blood. UMLS:C4025599|UMLS:C2673363 hp.json Increased serum iduronate sulfatase level|Increased serum iduronate sulfatase http://purl.obolibrary.org/obo/HP_0003538 HP:0003533 biolink:PhenotypicFeature Reduced acetaldehyde dehydrogenase level Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism. UMLS:C4025601 hp.json Delayed oxidation of acetaldehyde http://purl.obolibrary.org/obo/HP_0003533 HP:0003532 biolink:PhenotypicFeature Ornithinuria An increased concentration of ornithine in the urine. UMLS:C4025602 hp.json http://purl.obolibrary.org/obo/HP_0003532 HP:0003530 biolink:PhenotypicFeature Elevated circulating glutaric acid concentration An increased concentration of glutaric acid in the blood. UMLS:C4025603 hp.json Glutaric acidemia|Glutarate acidemia http://purl.obolibrary.org/obo/HP_0003530 UBERON:0007823 biolink:AnatomicalEntity appendage girdle region An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). EMAPA:37854|VSAO:0000303|FMA:24874 hp.json fin girdle region|girdle region|fin girdle|limb girdle|limb girdle region|girdle http://purl.obolibrary.org/obo/UBERON_0007823 HP:0003537 biolink:PhenotypicFeature Hypouricemia An abnormally low level of uric acid in the blood. UMLS:C0221333|SNOMEDCT_US:4519003 hp.json Low blood uric acid levels http://purl.obolibrary.org/obo/HP_0003537 HP:0003536 biolink:PhenotypicFeature Decreased fumarate hydratase activity An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. UMLS:C1853903 hp.json http://purl.obolibrary.org/obo/HP_0003536 CHEBI:32456 biolink:ChemicalSubstance cysteinate(1-) A sulfur-containing amino-acid anion that is the conjugate base of cysteine, obtained by deprotonation of the carboxy group. Gmelin:363235|Beilstein:4128885|Reaxys:4128885 hp.json cysteine monoanion|cysteinate(1-)|2-amino-3-mercaptopropanoate|cys(-)|2-amino-3-sulfanylpropanoate|hydrogen cysteinate http://purl.obolibrary.org/obo/CHEBI_32456 3_STAR HP:0003535 biolink:PhenotypicFeature 3-Methylglutaconic aciduria An increased amount of 3-methylglutaconic acid in the urine. MSH:C579867|UMLS:C3696376|SNOMEDCT_US:237950009 hp.json 3-Methylglutaconicaciduria http://purl.obolibrary.org/obo/HP_0003535 CHEBI:32457 biolink:ChemicalSubstance cysteinate(2-) Gmelin:49990 hp.json cysteinate(2-)|cysteine dianion|2-amino-3-sulfidopropanoate|cysteinate http://purl.obolibrary.org/obo/CHEBI_32457 3_STAR HP:0003534 biolink:PhenotypicFeature Reduced xanthine dehydrogenase level An abnormal reduction in xanthine dehydrogenase level. SNOMEDCT_US:124147007|UMLS:C4025600|UMLS:C0268118|MSH:C562584|SNOMEDCT_US:72682008 hp.json Xanthine dehydrogenase deficiency http://purl.obolibrary.org/obo/HP_0003534 UBERON:0007826 biolink:AnatomicalEntity peritoneal mesentery Mesentery that is located in the peritoneum. TAO:0005129|XAO:0000138|FMA:20570|ZFA:0005129 hp.json http://purl.obolibrary.org/obo/UBERON_0007826 UBERON:0001309 biolink:AnatomicalEntity internal iliac artery The internal iliac artery (formerly known as the hypogastric artery) is the main artery of the pelvis. [WP,unvetted]. NCIT:C32845|MA:0001974|EMAPA:17860|FMA:18808|UMLS:C0226364|BTO:0004667|galen:InternalIliacArtery hp.json arteria iliaca interna|hypogastric artery http://purl.obolibrary.org/obo/UBERON_0001309 uberon_slim|human_reference_atlas UBERON:0001308 biolink:AnatomicalEntity external iliac artery The external iliac artery is a large artery in the pelvic region that carries blood to the lower limb. The external iliac artery is a paired artery, meaning there is one on each side of the body: a right external iliac artery and left external iliac artery. The external iliac artery is accompanied by the external iliac vein, which is located posterior to the artery. [WP,unvetted]. EMAPA:17614|NCIT:C32558|MA:0001973|EHDAA:4337|OpenCyc:Mx4rvkh47pwpEbGdrcN5Y29ycA|EHDAA2:0000463|galen:ExternalIliacArtery|FMA:18805|BTO:0004666|UMLS:C0226398 hp.json arteria iliaca externa http://purl.obolibrary.org/obo/UBERON_0001308 uberon_slim|human_reference_atlas HP:0005092 biolink:PhenotypicFeature Streaky metaphyseal sclerosis The presence of streaks (bands) of abnormally increased density of metaphyseal bone. UMLS:C4025253 hp.json Streak increase in bone density in wide portion of wide bone http://purl.obolibrary.org/obo/HP_0005092 HP:0005093 biolink:PhenotypicFeature Absent proximal radial epiphyses Absence of the proximal radial epiphysis. UMLS:C1855301 hp.json http://purl.obolibrary.org/obo/HP_0005093 HP:0030050 biolink:PhenotypicFeature Narcolepsy An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. MSH:D009290|UMLS:C0027404|SNOMEDCT_US:60380001 hp.json http://purl.obolibrary.org/obo/HP_0030050 UBERON:0003968 biolink:AnatomicalEntity peripheral lymph node The lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes. EMAPA:37938 hp.json http://purl.obolibrary.org/obo/UBERON_0003968 pheno_slim UBERON:0001304 biolink:AnatomicalEntity germinal epithelium of ovary Layer of simple cuboidal cells covering surface of ovary[WP]. MA:0001711|EMAPA:17963|BTO:0004483|RETIRED_EHDAA2:0001361|UMLS:C0227875|NCIT:C61518|FMA:18629|EHDAA:8126|VHOG:0000630 hp.json germinal epithelium (female)|ovarian surface epithelium|ovary germinal epithelium|female coelomic epithelium|surface epithelium of ovary|ovary surface epithelium|epithelium superficiale (ovarium) http://purl.obolibrary.org/obo/UBERON_0001304 UBERON:0001307 biolink:AnatomicalEntity capsule of ovary A capsule that surrounds a female gonad. NCIT:C49265|UMLS:C0227877|FMA:18662|EMAPA:35626|MA:0001706 hp.json ovary capsule|ovarian capsule http://purl.obolibrary.org/obo/UBERON_0001307 pheno_slim HP:0005090 biolink:PhenotypicFeature Lateral femoral bowing A lateral bending or abnormal curvature of the femur. UMLS:C1866737 hp.json http://purl.obolibrary.org/obo/HP_0005090 UBERON:0003967 biolink:AnatomicalEntity cutaneous elastic tissue The slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity. EMAPA:37841 hp.json cutaneous elastic fiber|dermal elastic fiber http://purl.obolibrary.org/obo/UBERON_0003967 pheno_slim NCBITaxon:33090 biolink:OrganismalEntity Viridiplantae GC_ID:1|PMID:16248873|PMID:30257078 hp.json Chlorobionta|chlorophyte/embryophyte group|Chloroplastida|green plants|Chlorophyta/Embryophyta group|green plants http://purl.obolibrary.org/obo/NCBITaxon_33090 HP:0030055 biolink:PhenotypicFeature Hyperconvex toenail When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity. UMLS:C4022661 hp.json http://purl.obolibrary.org/obo/HP_0030055 HP:0030056 biolink:PhenotypicFeature Uncombable hair Hair that is disorderly, stands out from the scalp, and cannot be combed flat. UMLS:C1860607 hp.json Uncombable hair http://purl.obolibrary.org/obo/HP_0030056 HP:0030057 biolink:PhenotypicFeature Autoimmune antibody positivity The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. UMLS:C4022660 hp.json http://purl.obolibrary.org/obo/HP_0030057 HP:0030058 biolink:PhenotypicFeature Sickled erythrocytes An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains). UMLS:C2237347 hp.json http://purl.obolibrary.org/obo/HP_0030058 HP:0030051 biolink:PhenotypicFeature Tip-toe gait An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. UMLS:C1843570 hp.json Walking on tiptoes|Toe walking|Tiptoe gait http://purl.obolibrary.org/obo/HP_0030051 HP:0030052 biolink:PhenotypicFeature Inguinal freckling The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. UMLS:C1834297 hp.json Freckles in groin region http://purl.obolibrary.org/obo/HP_0030052 HP:0030053 biolink:PhenotypicFeature Stiff skin An induration (hardening) of the skin UMLS:C3276815 hp.json Indurated skin|Stiff skin http://purl.obolibrary.org/obo/HP_0030053 HP:0030054 biolink:PhenotypicFeature Perifollicular fibrosis Presence of excess fibrous connective tissue surrounding hair follicules. UMLS:C2748531 hp.json http://purl.obolibrary.org/obo/HP_0030054 HP:0030059 biolink:PhenotypicFeature Mitochondrial depletion An abnormal reduction in mitochondrial DNA content of cells. UMLS:C4022659 hp.json http://purl.obolibrary.org/obo/HP_0030059 UBERON:0001312 biolink:AnatomicalEntity superior vesical artery An artery that supplies blood to the upper urinary bladder. NCIT:C52686|UMLS:C0226376|FMA:18839|EMAPA:37123|MA:0002080 hp.json arteria vesicali superior|arteriae vesicales superiores|arteria vesicalis superior http://purl.obolibrary.org/obo/UBERON_0001312 human_reference_atlas|uberon_slim UBERON:0003975 biolink:AnatomicalEntity internal female genitalia The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. FMA:45654|SCTID:303518005|BTO:0003099 hp.json female internal genitalia|internal female genital organ|organa genitalia feminina interna|internal genitalia of female reproductive system http://purl.obolibrary.org/obo/UBERON_0003975 organ_slim|pheno_slim HP:0005089 biolink:PhenotypicFeature Abnormal metaphyseal trabeculation An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. UMLS:C1857139 hp.json http://purl.obolibrary.org/obo/HP_0005089 HP:0005084 biolink:PhenotypicFeature Anterior radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. UMLS:C2674451 hp.json Anterior dislocation of radial head http://purl.obolibrary.org/obo/HP_0005084 HP:0005085 biolink:PhenotypicFeature Limited knee flexion/extension A limited ability of the knee joint to perform extension and flexion. UMLS:C1968606 hp.json http://purl.obolibrary.org/obo/HP_0005085 UBERON:0001310 biolink:AnatomicalEntity umbilical artery The umbilical artery is a paired artery (with one for each half of the body) that is found in the abdominal and pelvic regions. In the fetus, it extends into the umbilical cord. [WP,unvetted]. OpenCyc:Mx4rCWdhMGWbEd2AAABQjYGu0g|CALOHA:TS-1077|EMAPA:16331|EHDAA:1026|MESH:D014469|EHDAA:410|EMAPA:16372|BTO:0000841|UMLS:C0041632|GAID:516|NCIT:C33827|MA:0002072|RETIRED_EHDAA2:0002106|FMA:18820 hp.json a. umbilicalis http://purl.obolibrary.org/obo/UBERON_0001310 pheno_slim|human_reference_atlas|uberon_slim HP:0005086 biolink:PhenotypicFeature Knee osteoarthritis MSH:D020370|UMLS:C0409959|SNOMEDCT_US:239873007 hp.json http://purl.obolibrary.org/obo/HP_0005086 UBERON:0003970 biolink:AnatomicalEntity placental labyrinth vasculature Blood vessels of the layer of the placenta where embryonic and maternal blood vessels interdigitate. hp.json placental labyrinth vascular network|placental vasculature|vasculature of placenta labyrinth http://purl.obolibrary.org/obo/UBERON_0003970 pheno_slim UBERON:0003959 biolink:AnatomicalEntity rete testis An anastomosing network of delicate tubules located in the hilum of the testicle (mediastinum testis) that carries sperm from the seminiferous tubules to the vasa efferentia[WP]. MESH:D012152|FMA:19834|GAID:399|NCIT:C33467|EMAPA:18332|MA:0003013|UMLS:C0035278 hp.json Haller's rete http://purl.obolibrary.org/obo/UBERON_0003959 pheno_slim HP:0030060 biolink:PhenotypicFeature Nervous tissue neoplasm A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system). MSH:D009380|UMLS:C0027665 hp.json http://purl.obolibrary.org/obo/HP_0030060 HP:0030061 biolink:PhenotypicFeature Neuroectodermal neoplasm A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. SNOMEDCT_US:73676002|MSH:D017599|UMLS:C0206093|SNOMEDCT_US:253096008 hp.json http://purl.obolibrary.org/obo/HP_0030061 NCBITaxon:33083 biolink:OrganismalEntity Dictyostelia PMID:11062127|PMID:9342353|GC_ID:1|PMID:29367151 hp.json cellular slime molds|dictyostelid cellular slime molds|Dictyostelids|Dictyostelida|Dictyosteliida http://purl.obolibrary.org/obo/NCBITaxon_33083 UBERON:0003955 biolink:AnatomicalEntity molar crown The part of a molar that is covered by enamel. EMAPA:37910|FMA:85301 hp.json molar tooth tooth crown|crown of molar tooth|tooth crown of molar tooth|molar tooth crown http://purl.obolibrary.org/obo/UBERON_0003955 pheno_slim UBERON:0003956 biolink:AnatomicalEntity aqueous drainage system The structures associated with drainage of the aqueous humor from the eye, that include the trabecular meshwork, Schlemm's canal, the uveoscleral network, and the aqueous veins. EMAPA:37427 hp.json http://purl.obolibrary.org/obo/UBERON_0003956 pheno_slim HP:0030066 biolink:PhenotypicFeature Ependymoblastoma A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system. SNOMEDCT_US:715901002|SNOMEDCT_US:21589007|UMLS:C0700367|MSH:D018242 hp.json http://purl.obolibrary.org/obo/HP_0030066 HP:0030067 biolink:PhenotypicFeature Peripheral primitive neuroectodermal neoplasm A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone. MSH:D018241|SNOMEDCT_US:73676002|UMLS:C0684337|SNOMEDCT_US:703707001|SNOMEDCT_US:253096008 hp.json http://purl.obolibrary.org/obo/HP_0030067 HP:0030068 biolink:PhenotypicFeature Olfactory esthesioneuroblastoma A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. SNOMEDCT_US:68614005|SNOMEDCT_US:422886007|SNOMEDCT_US:76060004|UMLS:C0206717|MSH:D018304 hp.json http://purl.obolibrary.org/obo/HP_0030068 HP:0030069 biolink:PhenotypicFeature Primary central nervous system lymphoma A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. SNOMEDCT_US:307649006|UMLS:C0280803|SNOMEDCT_US:21964009 hp.json Primary CNS lymphoma http://purl.obolibrary.org/obo/HP_0030069 HP:0030062 biolink:PhenotypicFeature Craniopharyngioma A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system. SNOMEDCT_US:189179009|SNOMEDCT_US:40009002|MSH:D003397|UMLS:C0010276 hp.json http://purl.obolibrary.org/obo/HP_0030062 HP:0030063 biolink:PhenotypicFeature Neuroepithelial neoplasm A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium. UMLS:C0206715|MSH:D018302 hp.json http://purl.obolibrary.org/obo/HP_0030063 HP:0030064 biolink:PhenotypicFeature Neurocytoma A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles. MSH:D018306|SNOMEDCT_US:128858006|UMLS:C1622510 hp.json http://purl.obolibrary.org/obo/HP_0030064 HP:0030065 biolink:PhenotypicFeature Primitive neuroectodermal tumor A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation. UMLS:C0206663|SNOMEDCT_US:699028006|SNOMEDCT_US:39781001|SNOMEDCT_US:55045006|MSH:D018242 hp.json Primitive neuroectodermal tumour http://purl.obolibrary.org/obo/HP_0030065 CHEBI:58123 biolink:ChemicalSubstance (2S)-2-hydroxy monocarboxylic acid anion A hydroxy monocarboxylic acid anion where the hydroxy group is placed at position 2 (alpha to the carboxy group) and has (S)-stereochemistry; major species at pH 7.3. PMID:10850983 hp.json (2S)-2-hydroxy monocarboxylic acid anions|(2S)-alpha-hydroxy monocarboxylic acid anion|(2S)-2-hydroxy monocarboxylates|(S)-2-hydroxyacid anions|a (2S)-2-hydroxycarboxylate|(S)-2-hydroxyacid anion|(2S)-2-hydroxycarboxylate|(2S)-2-hydroxy monocarboxylate|(2S)-alpha-hydroxy monocarboxylic acid anions http://purl.obolibrary.org/obo/CHEBI_58123 3_STAR UBERON:0001301 biolink:AnatomicalEntity epididymis The elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens. VHOG:0001265|MIAA:0000130|NCIT:C12328|BTO:0000408|galen:Epididymis|CALOHA:TS-0285|GAID:397|MESH:D004822|MA:0000397|FMA:18255|EV:0100103|UMLS:C0014533|EFO:0000982|MAT:0000130|EMAPA:19290 hp.json http://purl.obolibrary.org/obo/UBERON_0001301 uberon_slim|pheno_slim|efo_slim HP:0005099 biolink:PhenotypicFeature obsolete Severe hydrops fetalis hp.json Severe hydrops http://purl.obolibrary.org/obo/HP_0005099 UBERON:0001300 biolink:AnatomicalEntity scrotum The external sac of skin that encloses the testes. It is an extension of the abdomen, and in placentals is located between the penis and anus. galen:Scrotum|BTO:0003098|CALOHA:TS-2341|MESH:D012611|NCIT:C12785|UMLS:C0036471|FMA:18252|GAID:393|EMAPA:19296|OpenCyc:Mx4rwUC_upwpEbGdrcN5Y29ycA|MA:0000409 hp.json http://purl.obolibrary.org/obo/UBERON_0001300 pheno_slim|uberon_slim UBERON:0001303 biolink:AnatomicalEntity left uterine tube A fallopian tube that is part of a left side of organism [Automatically generated definition]. UMLS:C0227902|SCTID:280107002|FMA:18484|EMAPA:37368|MA:0001716|NCIT:C32959 hp.json left fallopian tube|left oviduct http://purl.obolibrary.org/obo/UBERON_0001303 UBERON:0001302 biolink:AnatomicalEntity right uterine tube A fallopian tube that is part of a right side of organism [Automatically generated definition]. SCTID:280106006|UMLS:C0227900|NCIT:C33475|EMAPA:37369|FMA:18483|MA:0001717 hp.json right oviduct|right fallopian tube http://purl.obolibrary.org/obo/UBERON_0001302 UBERON:0003963 biolink:AnatomicalEntity otic ganglion The ganglion that supplies nerve fibers to the parotid gland. EMAPA:36274|BAMS:GoIX|EHDAA2:0001335|FMA:6967|EHDAA:6706 hp.json ganglion oticum|Arnold's ganglion|otic parasympathetic ganglion http://purl.obolibrary.org/obo/UBERON_0003963 pheno_slim UBERON:0003960 biolink:AnatomicalEntity styloid process of temporal bone Slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments. EMAPA:36320|FMA:52877 hp.json temporal styloid process|processus styloideus|styloid process|processus styloideus ossis temporalis|styloid process of petrous part of temporal bone|processus styloideus ossis temporalis http://purl.obolibrary.org/obo/UBERON_0003960 pheno_slim CHEBI:58126 biolink:ChemicalSubstance porphobilinogen(1-) Conjugate base of porphobilinogen arising from deprotonation of the two carboxy groups and protonation of the amino group; major species at pH 7.3. hp.json 3-[5-(azaniumylmethyl)-4-(carboxylatomethyl)-1H-pyrrol-3-yl]propanoate|porphobilinogen|porphobilinogen anion http://purl.obolibrary.org/obo/CHEBI_58126 3_STAR HP:0005096 biolink:PhenotypicFeature Distal femoral bowing A bending or abnormal curvature of the distal portion of the femur. UMLS:C1860107 hp.json http://purl.obolibrary.org/obo/HP_0005096 HP:0005070 biolink:PhenotypicFeature Proximal radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction. UMLS:C1865570 hp.json http://purl.obolibrary.org/obo/HP_0005070 HP:0030070 biolink:PhenotypicFeature Central primitive neuroectodermal tumor A primitive neuroectodermal neoplasm that occurs in the central nervous system. SNOMEDCT_US:39781001|UMLS:C3887678 hp.json Central primitive neuroectodermal tumour http://purl.obolibrary.org/obo/HP_0030070 HP:0030071 biolink:PhenotypicFeature Medulloepithelioma A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal. SNOMEDCT_US:715903004|SNOMEDCT_US:39005004|UMLS:C0334596|MSH:D018242 hp.json http://purl.obolibrary.org/obo/HP_0030071 HP:0005072 biolink:PhenotypicFeature Hyperextensibility at wrists The ability of the wrist joints to move beyond their normal range of motion. UMLS:C1850853 hp.json Increased laxity of wrists|Increased wrist mobility http://purl.obolibrary.org/obo/HP_0005072 HP:0030072 biolink:PhenotypicFeature Paranasal sinus neoplasm A tumor that originates in the paranasal sinus. MSH:D010255|UMLS:C0030470|NCIT:C3262|SNOMEDCT_US:126675008 hp.json Tumour of the paranasal sinuses|Neoplasm of the paranasal sinuses|Tumor of the paranasal sinuses http://purl.obolibrary.org/obo/HP_0030072 UBERON:0003946 biolink:AnatomicalEntity placenta labyrinth The placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood. hp.json labyrinthine layer of placenta|placental labyrinth|labyrinthine layer http://purl.obolibrary.org/obo/UBERON_0003946 pheno_slim UBERON:0003947 biolink:AnatomicalEntity brain ventricle/choroid plexus The brain ventricles or their associated choroid plexuses. hp.json http://purl.obolibrary.org/obo/UBERON_0003947 pheno_slim HP:0030077 biolink:PhenotypicFeature Bronchial neoplasm A tumor originating in a bronchus. UMLS:C0006264|MSH:D001984|SNOMEDCT_US:126705004|NCIT:C3262 hp.json http://purl.obolibrary.org/obo/HP_0030077 HP:0030078 biolink:PhenotypicFeature Lung adenocarcinoma MSH:C538231|UMLS:C0152013|NCIT:C2852|SNOMEDCT_US:254626006 hp.json http://purl.obolibrary.org/obo/HP_0030078 CHEBI:22160 biolink:ChemicalSubstance acetamides Compounds with the general formula RNHC(=O)CH3. hp.json http://purl.obolibrary.org/obo/CHEBI_22160 3_STAR HP:0030079 biolink:PhenotypicFeature Cervix cancer A tumor of the uterine cervix. UMLS:C4048328|SNOMEDCT_US:363354003|MSH:D002583|NCIT:C3262 hp.json http://purl.obolibrary.org/obo/HP_0030079 HP:0030073 biolink:PhenotypicFeature obsolete Pharyngeal neoplasm hp.json http://purl.obolibrary.org/obo/HP_0030073 HP:0030074 biolink:PhenotypicFeature Chemodectoma A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract. MSH:D002345|SNOMEDCT_US:127028003|UMLS:C0007279|SNOMEDCT_US:30699005 hp.json Chemodectomas http://purl.obolibrary.org/obo/HP_0030074 HP:0030075 biolink:PhenotypicFeature Ductal carcinoma in situ Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. SNOMEDCT_US:86616005|MSH:D002285|SNOMEDCT_US:373176000|UMLS:C0007124|SNOMEDCT_US:278053004|SNOMEDCT_US:109889007 hp.json http://purl.obolibrary.org/obo/HP_0030075 HP:0030076 biolink:PhenotypicFeature Lobular carcinoma in situ SNOMEDCT_US:109888004|MSH:D000071960|UMLS:C0279563 hp.json http://purl.obolibrary.org/obo/HP_0030076 UBERON:0003953 biolink:AnatomicalEntity posterior stroma of cornea The posterior segment of the lamellated connective tissue layer of the cornea. EMAPA:37415 hp.json cornea posterior stroma|posterior stroma http://purl.obolibrary.org/obo/UBERON_0003953 pheno_slim HP:0005066 biolink:PhenotypicFeature Cone-shaped epiphyses fused within their metaphyses UMLS:C4025255 hp.json Cone-shaped end part of long bone fused within their wide portion of wide bone http://purl.obolibrary.org/obo/HP_0005066 UBERON:0003954 biolink:AnatomicalEntity squamoparietal suture The articulation of the squamous portion of the temporal bones with the parietal bones[MP]. The squamosal suture arches backward from the pterion and connects the temporal squama with the lower border of the parietal: this suture is continuous behind with the short, nearly horizontal parietomastoid suture, which unites the mastoid process of the temporal with the region of the mastoid angle of the parietal[WP]. EMAPA:19228|FMA:52946 hp.json squamosal suture|squamoparietal suture of skull|squamous suture|sutura squamosa cranii|squamo-parietal suture|squamous suture of skull http://purl.obolibrary.org/obo/UBERON_0003954 pheno_slim HP:0005067 biolink:PhenotypicFeature Proximal fibular overgrowth Overgrowth of the proximal part of the fibula. UMLS:C2673395 hp.json Overgrowth of innermost part of calf bone http://purl.obolibrary.org/obo/HP_0005067 UBERON:0003951 biolink:AnatomicalEntity ocular fundus The posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope. EMAPA:37916|RETIRED_EHDAA2:0000583|GAID:908|galen:FundusOculi|NCIT:C13378|MESH:D005654|UMLS:C0740422 hp.json eye fundus|fundus oculi|fundus|fundus of eye http://purl.obolibrary.org/obo/UBERON_0003951 pheno_slim HP:0005068 biolink:PhenotypicFeature Absent styloid process of ulna UMLS:C4025254 hp.json http://purl.obolibrary.org/obo/HP_0005068 UBERON:0003952 biolink:AnatomicalEntity anterior stroma of cornea The anterior segment of the lamellated connective tissue layer of the cornea. EMAPA:37414 hp.json anterior stroma|cornea anterior stroma http://purl.obolibrary.org/obo/UBERON_0003952 pheno_slim|human_reference_atlas HP:0005069 biolink:PhenotypicFeature Rhizo-meso-acromelic limb shortening UMLS:C2673654 hp.json http://purl.obolibrary.org/obo/HP_0005069 HP:0005063 biolink:PhenotypicFeature Fragmented, irregular epiphyses UMLS:C1867494 hp.json Fragmented, irregular end part of bone http://purl.obolibrary.org/obo/HP_0005063 HP:0030080 biolink:PhenotypicFeature Burkitt lymphoma A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. SNOMEDCT_US:397400006|SNOMEDCT_US:77381001|UMLS:C0006413|MSH:D002051|SNOMEDCT_US:118617000|SNOMEDCT_US:277571004|SNOMEDCT_US:22197008 hp.json http://purl.obolibrary.org/obo/HP_0030080 HP:0030081 biolink:PhenotypicFeature Punctate periventricular T2 hyperintense foci Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter. UMLS:C4022658 hp.json http://purl.obolibrary.org/obo/HP_0030081 UBERON:0003937 biolink:AnatomicalEntity reproductive gland Any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction. MA:0001751 hp.json gland of genitalia|reproductive system gland|reproductive gland|genitalia gland|sex gland|gland of reproductive system http://purl.obolibrary.org/obo/UBERON_0003937 organ_slim|pheno_slim HP:0030082 biolink:PhenotypicFeature Abnormal drinking behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. UMLS:C4022657 hp.json Abnormal drinking behaviour|Abnormal drinking behavior http://purl.obolibrary.org/obo/HP_0030082 HP:0030083 biolink:PhenotypicFeature Salt craving An excessive desire to eat salt (sodium chloride) or salty foods. UMLS:C0240928 hp.json Salt craving http://purl.obolibrary.org/obo/HP_0030083 UBERON:0003933 biolink:AnatomicalEntity cranial cartilage A cartilage element that is part of the cranial skeleton. ZFA:0001458|TAO:0001458 hp.json cranium cartilage|cartilage of cranium|cranial cartilages http://purl.obolibrary.org/obo/UBERON_0003933 HP:0030088 biolink:PhenotypicFeature Increased serum testosterone level An elevated circulating testosterone level in the blood. UMLS:C0241358|UMLS:C4072885 hp.json Increased testosterone|High serum testosterone levels|Increased serum testosterone levels|High serum testosterone level http://purl.obolibrary.org/obo/HP_0030088 HP:0030089 biolink:PhenotypicFeature Abnormal muscle fiber protein expression An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. UMLS:C4022653 hp.json Abnormal muscle fibre protein expression http://purl.obolibrary.org/obo/HP_0030089 HP:0030084 biolink:PhenotypicFeature Clinodactyly An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). SNOMEDCT_US:17268007|UMLS:C0265610|UMLS:C4280304 hp.json Permanent curving of the finger|Curvature of digit http://purl.obolibrary.org/obo/HP_0030084 HP:0030085 biolink:PhenotypicFeature Abnormal CSF lactate concentration Abnormal concentration of lactate in the cerebrospinal fluid. UMLS:C4022656 hp.json Abnormal CSF lactate level http://purl.obolibrary.org/obo/HP_0030085 HP:0030086 biolink:PhenotypicFeature Reduced CSF lactate Decreased concentration of lactate in the cerebrospinal fluid. UMLS:C4022655 hp.json Hypolactatorachia http://purl.obolibrary.org/obo/HP_0030086 HP:0030087 biolink:PhenotypicFeature Abnormal circulating testosterone concentration An anomalous concentration of testosterone in the blood. UMLS:C0580454|SNOMEDCT_US:166458009|UMLS:C4022654 hp.json Abnormal serum testosterone level|Abnormal testosterone level http://purl.obolibrary.org/obo/HP_0030087 UBERON:0015917 biolink:AnatomicalEntity superficial lymph node A lymph node that is located close to the surface. FMA:12767|NCIT:C102716 hp.json http://purl.obolibrary.org/obo/UBERON_0015917 UBERON:0015918 biolink:AnatomicalEntity deep lymph node A lymph node that is located deeper within the organism, further from the surface. FMA:12768 hp.json http://purl.obolibrary.org/obo/UBERON_0015918 UBERON:0003942 biolink:AnatomicalEntity somatic sensory system The sensory system for the sense of touch and pain. Wikipedia:Somatosensory_system|EMAPA:37954|NLXANAT:090818|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2887 hp.json somatic sensory system|system for detection of somatic senses|somatosensory system http://purl.obolibrary.org/obo/UBERON_0003942 pheno_slim HP:0030011 biolink:PhenotypicFeature Imperforate hymen A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. MSH:C562397|SNOMEDCT_US:65937002|UMLS:C0152436 hp.json http://purl.obolibrary.org/obo/HP_0030011 HP:0032674 biolink:PhenotypicFeature Cutaneous wound A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. hp.json Skin wound http://purl.obolibrary.org/obo/HP_0032674 HP:0032673 biolink:PhenotypicFeature Focal non-convulsive status epilepticus without coma Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure. hp.json http://purl.obolibrary.org/obo/HP_0032673 HP:0030012 biolink:PhenotypicFeature Abnormal female reproductive system physiology UMLS:C4020714|UMLS:C4022678 hp.json Abnormal female reproductive system physiology|Abnormal female genital system physiology http://purl.obolibrary.org/obo/HP_0030012 HP:0032676 biolink:PhenotypicFeature Chronic cutaneous wound A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result. hp.json Chronic nonhealing cutaneous wound http://purl.obolibrary.org/obo/HP_0032676 HP:0030013 biolink:PhenotypicFeature obsolete Endometriosis hp.json http://purl.obolibrary.org/obo/HP_0030013 HP:0032675 biolink:PhenotypicFeature Acute cutaneous wound A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin. hp.json http://purl.obolibrary.org/obo/HP_0032675 HP:0030014 biolink:PhenotypicFeature Female sexual dysfunction A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity UMLS:C1112442 hp.json http://purl.obolibrary.org/obo/HP_0030014 HP:0032670 biolink:PhenotypicFeature Tonic status epilepticus Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal. hp.json http://purl.obolibrary.org/obo/HP_0032670 PATO:0001778 biolink:NamedThing increased strength A strength which is relatively high. hp.json high strength http://purl.obolibrary.org/obo/PATO_0001778 value_slim HP:0032672 biolink:PhenotypicFeature Autonomic status epilepticus Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal. hp.json http://purl.obolibrary.org/obo/HP_0032672 PATO:0001779 biolink:NamedThing decreased strength A strength which is relatively low. hp.json weak http://purl.obolibrary.org/obo/PATO_0001779 value_slim HP:0030010 biolink:PhenotypicFeature Hydrometrocolpos Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. SNOMEDCT_US:60023006|UMLS:C0269209 hp.json http://purl.obolibrary.org/obo/HP_0030010 HP:0032671 biolink:PhenotypicFeature Non-convulsive status epilepticus without coma A type of status epilepticus without prominent motor symptoms in the absence of coma. hp.json http://purl.obolibrary.org/obo/HP_0032671 HP:0030019 biolink:PhenotypicFeature Increased female libido Elevated sexual desire in female UMLS:C4022675 hp.json Increased female sex drive http://purl.obolibrary.org/obo/HP_0030019 UBERON:0001350 biolink:AnatomicalEntity coccyx A collection of caudal vertebrae in the coccygeal region that are fused and part of the bony pelvis. GAID:239|MESH:D003050|EHDAA2:0000259|UMLS:C0009194|FMA:20229|galen:Coccyx|AAO:0000731|NCIT:C12696|OpenCyc:Mx4rv1XqHJwpEbGdrcN5Y29ycA hp.json fused caudal vertebral column|os coccygis|fused caudal vertebrae|tailbone|os coccygis|coccygeal skeleton|coccyx [coccygeal vertebrae I-IV]|coccyx [vertebrae coccygeae I-IV]|coccygeal vertebrae I-IV http://purl.obolibrary.org/obo/UBERON_0001350 uberon_slim|organ_slim|pheno_slim HP:0030015 biolink:PhenotypicFeature Female anorgasmia The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal. UMLS:C0033948|SNOMEDCT_US:60103007|UMLS:C4022677 hp.json Female orgasmic disorder http://purl.obolibrary.org/obo/HP_0030015 HP:0032678 biolink:PhenotypicFeature Eyelid myoclonia seizure An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. hp.json http://purl.obolibrary.org/obo/HP_0032678 HP:0032677 biolink:PhenotypicFeature Generalized-onset motor seizure A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. hp.json Generalized onset motor seizure|Generalised-onset motor seizure|Generalised onset motor seizure http://purl.obolibrary.org/obo/HP_0032677 HP:0030016 biolink:PhenotypicFeature Dyspareunia Recurrent or persistent genital pain associated with sexual intercourse. UMLS:C1384606|SNOMEDCT_US:71315007|MSH:D004414 hp.json http://purl.obolibrary.org/obo/HP_0030016 HP:0030017 biolink:PhenotypicFeature Vaginismus Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress. MSH:D052065|UMLS:C2004487|SNOMEDCT_US:79012001 hp.json Pelvic floor myalgia|Myalgia of pelvic floor http://purl.obolibrary.org/obo/HP_0030017 HP:0030018 biolink:PhenotypicFeature Decreased female libido Dminished sexual desire in female. UMLS:C4022676 hp.json Decreased female sex drive http://purl.obolibrary.org/obo/HP_0030018 HP:0032679 biolink:PhenotypicFeature Focal non-motor seizure A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. hp.json Focal seizure without motor onset|Partial seizure without motor onset http://purl.obolibrary.org/obo/HP_0032679 UBERON:0001356 biolink:AnatomicalEntity medial circumflex femoral artery The medial circumflex femoral artery (internal circumflex artery, medial femoral circumflex artery) is an artery in the upper thigh that helps supply blood to the neck of the femur. [WP,unvetted]. FMA:20799|EMAPA:37670|MA:0001996 hp.json medial femoral circumflex artery|arteria circumflexa femoris medialis http://purl.obolibrary.org/obo/UBERON_0001356 human_reference_atlas|uberon_slim UBERON:0001355 biolink:AnatomicalEntity deep femoral artery The profunda femoris artery (also known as the deep femoral artery, or the deep artery of the thigh) is a branch of the femoral artery that, as its name suggests, travels more deeply (posteriorly) than the rest of the femoral artery. [WP,unvetted]. FMA:20741|NCIT:C32436|MA:0002027|UMLS:C0226455|EMAPA:37216 hp.json arteria profunda femoris|profunda femoris artery http://purl.obolibrary.org/obo/UBERON_0001355 human_reference_atlas|uberon_slim UBERON:0001352 biolink:AnatomicalEntity external acoustic meatus A tube running from the outer ear to the middle ear. The human ear canal extends from the pinna to the eardrum and is about 26 mm in length and 7 mm in diameter. MA:0000260|EHDAA2:0000460|UMLS:C0013444|GAID:864|EMAPA:17588|galen:ExternalAuditoryMeatus|FMA:61734|EV:0100356|VHOG:0000977|NCIT:C12498|MESH:D004424|EHDAA:8975|OpenCyc:Mx4rvli-nZwpEbGdrcN5Y29ycA hp.json external auditory tube|auditory canal|auditory meatus|external auditory meatus|ear canal|external acoustic tube|external auditory canal http://purl.obolibrary.org/obo/UBERON_0001352 pheno_slim|uberon_slim UBERON:0001351 biolink:AnatomicalEntity lacrimal sac The upper dilated end of the nasolacrimal duct that is lodged in a deep groove formed by the lacrimal bone and frontal process of the maxilla; it connects the lacrimal canaliculi, which drain tears from the eye's surface, and the nasolacrimal duct, which conveys this fluid into the nasal cavity; like the nasolacrimal duct, the sac is lined by stratified columnar epithelium with mucus-secreting goblet cells, and is surrounded by connective tissue. UMLS:C0229289|FMA:20289|NCIT:C32909|MA:0001298 hp.json lacrymal sac|saccus lacrimalis|lachrymal sac http://purl.obolibrary.org/obo/UBERON_0001351 uberon_slim|pheno_slim UBERON:0001353 biolink:AnatomicalEntity anal region The anus and surrounding regions. Encompasses both internal and external regions, where present. EHDAA2:0000122|SCTID:362680001|MA:0000329|MAT:0000042|UMLS:C0230120|EMAPA:16831|MIAA:0000042|VHOG:0000395|EFO:0000847|EHDAA:2931|WBbt:0006919|NCIT:C32069 hp.json posterior end of organism|posterior http://purl.obolibrary.org/obo/UBERON_0001353 pheno_slim|efo_slim|uberon_slim UBERON:0001338 biolink:AnatomicalEntity urethral gland Any of the numerous small mucous-secreting glands located in the wall of the male or female urethra that help protect the epithelium from the corrosive urine. FMA:19683|EMAPA:37784|MA:0001688 hp.json urethra gland (male or female)|urethra gland|urethral mucuous gland|gland of urethra http://purl.obolibrary.org/obo/UBERON_0001338 organ_slim|pheno_slim|uberon_slim UBERON:0003999 biolink:AnatomicalEntity hyoid bone body The main curve of the hyoid bone, from which the horns extend. FMA:59495|MA:0002958|EMAPA:18653 hp.json base of hyoid bone|basihyal bone|basihyoid bone|body of hyoid|corpus ossis hyoidei|hyoid bone base|body of hyoid bone http://purl.obolibrary.org/obo/UBERON_0003999 pheno_slim HP:0032685 biolink:PhenotypicFeature Focal cognitive seizure with auditory agnosia A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing. hp.json http://purl.obolibrary.org/obo/HP_0032685 HP:0030022 biolink:PhenotypicFeature Question mark ear Cleft between the helix and the lobe. UMLS:C3888103 hp.json Cosman ear|Question mark ears|Question mark ear|Constricted ear http://purl.obolibrary.org/obo/HP_0030022 PATO:0001787 biolink:NamedThing rotational curvature A curvature quality inhering in a bearer by virtue of the bearer's being curved around an axis. hp.json http://purl.obolibrary.org/obo/PATO_0001787 value_slim PATO:0001788 biolink:NamedThing increased mass density A density which is higher relative to the normal or average. hp.json high density http://purl.obolibrary.org/obo/PATO_0001788 value_slim HP:0032684 biolink:PhenotypicFeature Focal aware cognitive seizure with auditory agnosia A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032684 HP:0030023 biolink:PhenotypicFeature Quelprud nodule Small cartilaginous prominence on the posterior concha. UMLS:C4022673 hp.json http://purl.obolibrary.org/obo/HP_0030023 PATO:0001785 biolink:NamedThing splayed A curvature quality inhering in a bearer by virtue of the bearer's being curved outward. hp.json http://purl.obolibrary.org/obo/PATO_0001785 value_slim|cell_quality HP:0030024 biolink:PhenotypicFeature Pretragal ectopia Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. UMLS:C0266609|SNOMEDCT_US:204245004 hp.json Accessory Tragus|Pretragal Duplication|Extra cartilage in front of the ear http://purl.obolibrary.org/obo/HP_0030024 HP:0032687 biolink:PhenotypicFeature Focal cognitive seizure with memory impairment A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia). hp.json Amnestic aura|Amnestic seizure http://purl.obolibrary.org/obo/HP_0032687 PATO:0001786 biolink:NamedThing split A shape quality inhering in a bearer by virtue of the bearer's being divided or broken up into parts or divisions. hp.json clefted|subdivided|divided|septate|forked http://purl.obolibrary.org/obo/PATO_0001786 value_slim|mpath_slim HP:0030025 biolink:PhenotypicFeature Auricular pit Small indentation in the lower part of the ascending helix, concha, or in the crus helix. UMLS:C4022672 hp.json http://purl.obolibrary.org/obo/HP_0030025 HP:0032686 biolink:PhenotypicFeature Focal aware cognitive seizure with memory impairment A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032686 HP:0032681 biolink:PhenotypicFeature Focal aware cognitive seizure A focal aware cognitive seizure during which awareness is retained throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032681 HP:0032680 biolink:PhenotypicFeature Focal cognitive seizure A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure. hp.json Partial cognitive seizure|Cognitive seizure|Cognitive aura http://purl.obolibrary.org/obo/HP_0032680 HP:0032683 biolink:PhenotypicFeature obsolete Focal aware cognitive seizure with impaired attention hp.json http://purl.obolibrary.org/obo/HP_0032683 HP:0030021 biolink:PhenotypicFeature Auricular tag Small protrusion within the pinna. UMLS:C4022674 hp.json http://purl.obolibrary.org/obo/HP_0030021 HP:0032682 biolink:PhenotypicFeature Focal aware non-motor seizure A focal non-motor seizure in which awareness is retained throughout the seizure. hp.json Focal non-motor aware seizure http://purl.obolibrary.org/obo/HP_0032682 PATO:0001780 biolink:NamedThing dystrophic A size quality inhering in a bearer by virtue of the bearer's being abnormally developed, usually due to malnutrition. hp.json dystrophied|dystrophy http://purl.obolibrary.org/obo/PATO_0001780 mpath_slim|value_slim PR:000010228 biolink:Protein myelin basic protein A protein that is a translation product of the human MBP gene or a 1:1 ortholog thereof. hp.json myelin membrane encephalitogenic protein|MBP|myelin A1 protein|Shi http://purl.obolibrary.org/obo/PR_000010228 PATO:0001783 biolink:NamedThing decreased intensity An intensity which is relatively low. hp.json low intensity http://purl.obolibrary.org/obo/PATO_0001783 value_slim HP:0032689 biolink:PhenotypicFeature Focal cognitive seizure with dissociation A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032689 HP:0030026 biolink:PhenotypicFeature Squared superior portion of helix Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. UMLS:C4022671 hp.json http://purl.obolibrary.org/obo/HP_0030026 HP:0030027 biolink:PhenotypicFeature Abnormality of the nasal cartilage A morphological anomaly of the nasal cartilage. UMLS:C4022670 hp.json Anomaly of cartilage of nose|Anomaly of nasal cartilage|Malformation of cartilage of nose|Deformity of cartilage of nose|Deformity of nasal cartilage|Malformation of nasal cartilage|Abnormality of cartilage of nose|Abnormality of the nasal cartilage http://purl.obolibrary.org/obo/HP_0030027 PATO:0001784 biolink:NamedThing bifurcated A branched quality inhering in a bearer by virtue of the bearer's being divided into two branches. hp.json forked|bifid http://purl.obolibrary.org/obo/PATO_0001784 value_slim|mpath_slim|cell_quality HP:0032688 biolink:PhenotypicFeature Focal aware cognitive seizure with dissociation A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032688 HP:0030028 biolink:PhenotypicFeature Absent nasal cartilage Lack of a palpable nasal cartilage. UMLS:C4022669|UMLS:C4082198|SNOMEDCT_US:232381002|MSH:C562753 hp.json Failure of development of nasal cartilage|Absent cartilage of nose|Absent nasal cartilage|Missing cartilage of nose|Missing nasal cartilage|Agenesis of cartilage of nose|Agenesis of nasal cartilage|Failure of development of cartilage of nose http://purl.obolibrary.org/obo/HP_0030028 HP:0030029 biolink:PhenotypicFeature Splayed fingers Divergence of digits along the A/P axis (in the plane of the palm). UMLS:C4021057 hp.json Spreading of the fingers|Splayed fingers http://purl.obolibrary.org/obo/HP_0030029 PATO:0001782 biolink:NamedThing increased intensity An intensity which is relatively high. hp.json high intensity http://purl.obolibrary.org/obo/PATO_0001782 value_slim UBERON:0001344 biolink:AnatomicalEntity epithelium of vagina The epithelial layer of the vagina. BTO:0000422|NCIT:C49313|UMLS:C0920840|EMAPA:30991|CALOHA:TS-1325|FMA:19978|MA:0001730 hp.json vagina epithelial tissue|vagina epithelium|epithelium, vaginal|epithelial tissue of vagina|vaginal epithelium http://purl.obolibrary.org/obo/UBERON_0001344 pheno_slim UBERON:0001343 biolink:AnatomicalEntity seminiferous tubule of testis The tubules in the testes where spermatogenesis occurs. XAO:0003088|AAO:0010399|NCIT:C13047|BTO:0001235|MESH:D012671|EMAPA:31476|CALOHA:TS-1239|UMLS:C0036630|FMA:19825|NCIT:C34293|EV:0100380|MA:0000412|GAID:400|VHOG:0001363|MAT:0000503|EMAPA:18685|EFO:0001404|UMLS:C1519236 hp.json seminiferous tubule|testis - seminiferous tubule|tubuli seminiferi|seminiferous cord|tubuli seminiferi http://purl.obolibrary.org/obo/UBERON_0001343 pheno_slim|efo_slim|uberon_slim HP:0032690 biolink:PhenotypicFeature Focal aware cognitive seizure with dyscalculia/acalculia A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032690 UBERON:0003988 biolink:AnatomicalEntity thymus corticomedullary boundary The dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells. EMAPA:37974 hp.json thymic cortico-medullary boundary|thymic corticomedullary junction|thymus cortico-medullary boundary|thymus corticomedullary zone|thymus CMZ|thymic corticomedullary zone|thymic corticomedullary boundary|thymus corticomedullary junction http://purl.obolibrary.org/obo/UBERON_0003988 pheno_slim|human_reference_atlas UBERON:0001328 biolink:AnatomicalEntity lobe of prostate A portion of a prostate that forms a lobe. BTO:0000548|UMLS:C0227970|EMAPA:35712|FMA:19570|MA:0001738|NCIT:C52726 hp.json prostate gland lobe|prostatic lobe|lobe of prostate gland http://purl.obolibrary.org/obo/UBERON_0001328 HP:0030033 biolink:PhenotypicFeature Small finger Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. UMLS:C0575827|SNOMEDCT_US:299058009 hp.json Small finger http://purl.obolibrary.org/obo/HP_0030033 HP:0032696 biolink:PhenotypicFeature Focal cognitive seizure with receptive dysphasia/aphasia A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032696 HP:0032695 biolink:PhenotypicFeature obsolete Illusory auras hp.json http://purl.obolibrary.org/obo/HP_0032695 HP:0030034 biolink:PhenotypicFeature Glomerular basement membrane lamellation Presence of abnormal additional layers of the basement membrane of the glomerulus. UMLS:C3278307 hp.json Lamellation of the glomerular basement membrane|Lamellated/basket-woven thickened glomerular basement membranes http://purl.obolibrary.org/obo/HP_0030034 HP:0030035 biolink:PhenotypicFeature Struvite nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). UMLS:C4021056 hp.json Struvite kidney stones http://purl.obolibrary.org/obo/HP_0030035 PATO:0001796 biolink:NamedThing decreased coiling A coiling which is relatively low. hp.json low coiling http://purl.obolibrary.org/obo/PATO_0001796 cell_quality|value_slim HP:0032698 biolink:PhenotypicFeature Focal cognitive seizure with conduction dysphasia/aphasia A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032698 HP:0032697 biolink:PhenotypicFeature obsolete Focal cognitive seizure with deja vu/jamais vu A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032697 HP:0030036 biolink:PhenotypicFeature Isothenuria Inability of the kidneys to produce either concentrated or dilute urine. UMLS:C4022665 hp.json http://purl.obolibrary.org/obo/HP_0030036 HP:0032692 biolink:PhenotypicFeature Focal cognitive seizure with forced thinking A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032692 HP:0030030 biolink:PhenotypicFeature Absent ray The absence of all phalanges of a digit and the associated metacarpal /metatarsal. UMLS:C4022668 hp.json http://purl.obolibrary.org/obo/HP_0030030 HP:0032691 biolink:PhenotypicFeature Focal cognitive seizure with dyscalculia/acalculia A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032691 CHEBI:24780 biolink:ChemicalSubstance imidazoles A five-membered organic heterocycle containing two nitrogen atoms at positions 1 and 3, or any of its derivatives; compounds containing an imidazole skeleton. hp.json http://purl.obolibrary.org/obo/CHEBI_24780 3_STAR HP:0030031 biolink:PhenotypicFeature Small toe Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual. UMLS:C4022667 hp.json Small toe http://purl.obolibrary.org/obo/HP_0030031 HP:0032694 biolink:PhenotypicFeature Focal cognitive seizure with dyslexia/alexia A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032694 HP:0030032 biolink:PhenotypicFeature Partial absence of foot An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. UMLS:C4022666 hp.json Partial absence of foot http://purl.obolibrary.org/obo/HP_0030032 HP:0032693 biolink:PhenotypicFeature Focal cognitive seizure with neglect A focal cognitive seizure characterized by neglect as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032693 PATO:0001790 biolink:NamedThing decreased mass density A density which is lower relative to the normal or average. hp.json low density http://purl.obolibrary.org/obo/PATO_0001790 value_slim PATO:0001794 biolink:NamedThing coiling A shape quality inhering in a bearer by virtue of the bearer's being wound in a continuous series of loops. hp.json http://purl.obolibrary.org/obo/PATO_0001794 attribute_slim HP:0030037 biolink:PhenotypicFeature Bifid ureter Incomplete duplication of the ureter. UMLS:C3887498 hp.json http://purl.obolibrary.org/obo/HP_0030037 PATO:0001795 biolink:NamedThing increased coiling A coiling which is relatively high. hp.json high coiling http://purl.obolibrary.org/obo/PATO_0001795 cell_quality|value_slim HP:0032699 biolink:PhenotypicFeature Focal cognitive seizure with dysgraphia/agraphia A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032699 HP:0030038 biolink:PhenotypicFeature Enchondroma A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. SNOMEDCT_US:31186001|MSH:D002812|UMLS:C1704356|SNOMEDCT_US:423699002 hp.json http://purl.obolibrary.org/obo/HP_0030038 HP:0030039 biolink:PhenotypicFeature Fused thoracic vertebrae A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another. UMLS:C4022664 hp.json http://purl.obolibrary.org/obo/HP_0030039 PATO:0001793 biolink:NamedThing right side of A spatial quality inhering in a bearer by virtue of the bearer's being located on right side of a another entity. hp.json http://purl.obolibrary.org/obo/PATO_0001793 mpath_slim|relational_slim|value_slim UBERON:0001334 biolink:AnatomicalEntity female urethra A urethra that is part of a female reproductive system. UMLS:C0458485|NCIT:C32591|EMAPA:28747|MA:0002637|FMA:19669|BTO:0004088 hp.json urethra feminina|urethra muliebris http://purl.obolibrary.org/obo/UBERON_0001334 pheno_slim|uberon_slim UBERON:0001333 biolink:AnatomicalEntity male urethra A urethra that is part of a male reproductive system. MA:0002640|EMAPA:18692|UMLS:C0458452|NCIT:C33050|FMA:19668|BTO:0004089 hp.json http://purl.obolibrary.org/obo/UBERON_0001333 pheno_slim|uberon_slim UBERON:0001330 biolink:AnatomicalEntity pampiniform plexus The pampiniform plexus is a network of many small veins found in the male spermatic cord. It is formed by the union of multiple spermatic veins from the back of the testis and tributaries from the epididymis. The veins of the plexus ascend along the cord in front of the ductus deferens. Below the subcutaneous inguinal ring they unite to form three or four veins, which pass along the inguinal canal, and, entering the abdomen through the abdominal inguinal ring, coalesce to form two veins. These again unite to form a single vein, the testicular vein, which opens on the right side into the inferior vena cava, at an acute angle, and on the left side into the left renal vein, at a right angle. The pampinoform plexus forms the chief mass of the cord. In addition to its function in venous return from the testes, the pampiniform plexus also plays a role in the temperature regulation of the testes. It acts as a heat exchanger, cooling blood in adjacent arteries. An abnormal enlargement of the pampiniform plexus is a medical condition called varicocele. [WP,unvetted]. FMA:19607|EMAPA:37385|MA:0001866 hp.json venous plexus of fascia of prostate gland|venous plexus of fascia of prostate|pampiniform venous plexus|plexus of veins of fascia of prostate|plexus venosus pampiniformis http://purl.obolibrary.org/obo/UBERON_0001330 human_reference_atlas|uberon_slim UBERON:0001332 biolink:AnatomicalEntity prepuce of penis A retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. OpenCyc:Mx4rvVjlTZwpEbGdrcN5Y29ycA|EFO:0001664|BTO:0001113|MA:0000407|FMA:19639|EMAPA:18989|EV:0100109|UMLS:C0227952|NCIT:C33049|CALOHA:TS-0383 hp.json preputium penis|praeputium|preputium|prepucium|foreskin|penile prepuce|prepuce|prepuce of male http://purl.obolibrary.org/obo/UBERON_0001332 pheno_slim|efo_slim|uberon_slim UBERON:0001331 biolink:AnatomicalEntity skin of penis A zone of skin that is part of a penis [Automatically generated definition]. MA:0002727|FMA:19638|EMAPA:35675 hp.json penis skin|zone of skin of penis|penile skin|penis zone of skin http://purl.obolibrary.org/obo/UBERON_0001331 UBERON:0001319 biolink:AnatomicalEntity vaginal vein One the veins that drains the vaginal venous plexus, into the hypogastric veins. [WP,modified]. FMA:18899|EMAPA:37796|MA:0002251 hp.json vein of vagina|vagina vein http://purl.obolibrary.org/obo/UBERON_0001319 uberon_slim|human_reference_atlas UBERON:0001316 biolink:AnatomicalEntity external iliac vein A large vein that connects the femoral vein to the common iliac vein. Their origin is at the inferior margin of the inguinal ligaments and they terminate when they join the internal iliac veins (to form the common iliac veins). Both external iliac veins are accompanied along their course by external iliac arteries. [WP,modified]. FMA:18883|UMLS:C0226761|MA:0002144|EHDAA2:0000464|NCIT:C32560|OpenCyc:Mx4rwQUYtZwpEbGdrcN5Y29ycA|EMAPA:37144|galen:ExternalIliacVein hp.json vena iliaca externa http://purl.obolibrary.org/obo/UBERON_0001316 uberon_slim|human_reference_atlas UBERON:0001317 biolink:AnatomicalEntity internal iliac vein A vein that begins near the upper part of the greater sciatic foramen, passes upward behind and slightly medial to the hypogastric artery and, at the brim of the pelvis, joins with the external iliac to form the common iliac vein. [WP,unvetted]. galen:InternalIliacVein|MA:0002139|UMLS:C0226764|FMA:18884|EHDAA2:0000874|VHOG:0000749|MA:0002145|EMAPA:37148|NCIT:C32847 hp.json hypogastric vein|v. iliaca interna|v. hypogastrica http://purl.obolibrary.org/obo/UBERON_0001317 uberon_slim|human_reference_atlas UBERON:0003978 biolink:AnatomicalEntity valve EHDAA:4406|OpenCyc:Mx4rvqiwE5wpEbGdrcN5Y29ycA|EHDAA:1892|EHDAA2:0004046|FMA:67611|galen:Valve hp.json anatomical valve http://purl.obolibrary.org/obo/UBERON_0003978 grouping_class HP:0030044 biolink:PhenotypicFeature Flexion contracture of digit A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. UMLS:C1839864 hp.json http://purl.obolibrary.org/obo/HP_0030044 HP:0030045 biolink:PhenotypicFeature Serpentine fibula Elongated curved (S-shaped) fibulae. UMLS:C3805325 hp.json S-shaped calf bone http://purl.obolibrary.org/obo/HP_0030045 HP:0030046 biolink:PhenotypicFeature Hypoglycosylation of alpha-dystroglycan A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue. UMLS:C4015098 hp.json http://purl.obolibrary.org/obo/HP_0030046 HP:0030047 biolink:PhenotypicFeature Abnormal lateral ventricle morphology A morphological anomaly of the lateral ventricle. UMLS:C4022662 hp.json Abnormality of lateral ventricle http://purl.obolibrary.org/obo/HP_0030047 HP:0030040 biolink:PhenotypicFeature Fused lumbar vertebrae A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another. UMLS:C4022663 hp.json http://purl.obolibrary.org/obo/HP_0030040 HP:0030041 biolink:PhenotypicFeature Schmorl's node A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. SNOMEDCT_US:45181002|UMLS:C0410632 hp.json Schmorl's nodes http://purl.obolibrary.org/obo/HP_0030041 HP:0030042 biolink:PhenotypicFeature Incomplete ossification of pubis Failure to complete ossification (maturation and calcification) of the pubic bone. SNOMEDCT_US:373940002|UMLS:C0685678 hp.json Incomplete maturation of the pubic bone http://purl.obolibrary.org/obo/HP_0030042 HP:0030043 biolink:PhenotypicFeature Hip subluxation A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. SNOMEDCT_US:263057000|UMLS:C0434785 hp.json Partial hip dislocation|Subluxation involving the hip joint http://purl.obolibrary.org/obo/HP_0030043 HP:0030048 biolink:PhenotypicFeature Colpocephaly Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. SNOMEDCT_US:253160006|UMLS:C0431384|MSH:C535973 hp.json http://purl.obolibrary.org/obo/HP_0030048 HP:0030049 biolink:PhenotypicFeature Brain abscess A collection of pus, immune cells, and other material in the brain. UMLS:C0006105|MSH:D001922|SNOMEDCT_US:441806004 hp.json Brain abscess http://purl.obolibrary.org/obo/HP_0030049 UBERON:0001323 biolink:AnatomicalEntity tibial nerve The tibial nerve is a branch of the sciatic nerve. The tibial nerve passes through the popliteal fossa to pass below the arch of soleus. In the popliteal fossa the nerve gives off branches to gastrocnemius, popliteus, soleus and plantaris muscles, an articular branch to the knee joint, and a cutaneous branch that will become the sural nerve. The sural nerve is joined by fibres from the common peroneal nerve and runs down the calf to supply the lateral side of the foot. Below the soleus muscle the nerve lies close to the tibia and supplies the tibialis posterior, the flexor digitorum longus and the flexor hallucis longus. The nerve passes into the foot running posterior to the medial malleolus. Here it is bound down by the flexor retinaculum in company with the posterior tibial artery. [WP,unvetted]. NCIT:C52809|FMA:19035|MA:0001173|UMLS:C0040186|EMAPA:36512|OpenCyc:Mx4rwNya8JwpEbGdrcN5Y29ycA|GAID:854|MESH:D013979 hp.json medial popliteal nerve|n. tibialis http://purl.obolibrary.org/obo/UBERON_0001323 uberon_slim UBERON:0001322 biolink:AnatomicalEntity sciatic nerve A large nerve that supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. It begins in the lower back and runs through the buttock and down the lower limb. EFO:0001417|FMA:19034|OpenCyc:Mx4rv7MlDJwpEbGdrcN5Y29ycA|UMLS:C0036394|MESH:D012584|CALOHA:TS-0899|UMLS:C0036394|MA:0001172|VHOG:0000894|BTO:0001221|NCIT:C52810|GAID:852|EHDAA2:0001779|EHDAA:5659|EMAPA:18577|BIRNLEX:1133 hp.json nervus ischiadicus|nervus sciaticus|ischiadic nerve|ischiatic nerve|nervus ischiadicus http://purl.obolibrary.org/obo/UBERON_0001322 pheno_slim|efo_slim|human_reference_atlas|uberon_slim UBERON:0003984 biolink:AnatomicalEntity uterine tube infundibulum The funnel-like expansion of the abdominal extremity of the uterine tube[MP]. SCTID:362262001|FMA:18307|EMAPA:29897|Wikipedia:Infundibulum_of_uterine_tube hp.json infundibulum of uterine tube|infundibulum of fallopian tube|infundibulum of oviduct|infundibulum tubae uterinae|infundibulum tubae uterinae|infundibulum http://purl.obolibrary.org/obo/UBERON_0003984 pheno_slim|human_reference_atlas UBERON:0001325 biolink:AnatomicalEntity muscle of pelvis Muscle (organ) which is a part of the pelvis. Examples: levator ani,. FMA:19086|EMAPA:18184|MA:0000534|EMAPA:37481 hp.json pelvis muscle organ|pelvis muscle|muscle organ of pelvis|pelvic muscle http://purl.obolibrary.org/obo/UBERON_0001325 pheno_slim|uberon_slim UBERON:0003983 biolink:AnatomicalEntity conus arteriosus A conical pouch formed from the upper and left angle of the right ventricle in the chordate heart, from which the pulmonary artery arises[WP]. the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminates in the pulmonary trunk[MP]. AAO:0010250|Wikipedia:Conus_arteriosus hp.json http://purl.obolibrary.org/obo/UBERON_0003983 UBERON:0003980 biolink:AnatomicalEntity cerebellum fissure One of a set of deep furrows which divide the lobules of the cerebellum. Examples: postcentral, primary and secondary furrows. DHBA:12828|FMA:321547|HBA:9406|BAMS:CBf|EMAPA:37818 hp.json sulcus of cerebellum|cerebellar fissures set|cerebellar sulcus|cerebellar sulci|fissurae cerebelli|cerebellar fissures|cerebellar fissure|set of cerebellar fissures http://purl.obolibrary.org/obo/UBERON_0003980 pheno_slim PATO:0001739 biolink:NamedThing radiation quality hp.json http://purl.obolibrary.org/obo/PATO_0001739 HP:0032630 biolink:PhenotypicFeature Intratubular light-chain casts The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. hp.json http://purl.obolibrary.org/obo/HP_0032630 HP:0032632 biolink:PhenotypicFeature Renal papillary necrosis Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. hp.json http://purl.obolibrary.org/obo/HP_0032632 HP:0032631 biolink:PhenotypicFeature Intratubular hemoglobin casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. hp.json Intratubular haemoglobin casts http://purl.obolibrary.org/obo/HP_0032631 PATO:0001736 biolink:NamedThing solid configuration A physical quality inhering in a bearer by virtue of the bearer's parts having the arrangement which exhibits characteristics of solids. hp.json solid http://purl.obolibrary.org/obo/PATO_0001736 value_slim PATO:0001735 biolink:NamedThing liquid configuration hp.json http://purl.obolibrary.org/obo/PATO_0001735 HP:0032638 biolink:PhenotypicFeature Elevated urine mevalonic acid An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid. hp.json Elevated urine mevalonate levels|Elevated urine mevalonate|Mevalonate aciduria http://purl.obolibrary.org/obo/HP_0032638 HP:0005008 biolink:PhenotypicFeature Large joint dislocations UMLS:C4025260 hp.json Large joint dislocations http://purl.obolibrary.org/obo/HP_0005008 HP:0005009 biolink:PhenotypicFeature Dumbbell-shaped humerus The humerus is shortened and displays flaring (widening) of the metaphyses. UMLS:C4025259 hp.json Dumbbell-shaped long bone in upper arm http://purl.obolibrary.org/obo/HP_0005009 HP:0032637 biolink:PhenotypicFeature Renal interstitial edema Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. hp.json Renal interstitial oedema http://purl.obolibrary.org/obo/HP_0032637 HP:0032639 biolink:PhenotypicFeature Elevated leukocyte cystine An increased concentration of cystine within white blood cells. hp.json http://purl.obolibrary.org/obo/HP_0032639 HP:0032634 biolink:PhenotypicFeature Intratubular myoglobin cast Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. hp.json http://purl.obolibrary.org/obo/HP_0032634 HP:0007667 biolink:PhenotypicFeature Peripheral cystoid retinal degeneration Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. UMLS:C1839362 hp.json Peripheral cystoid degeneration|Cystic retinal degeneration http://purl.obolibrary.org/obo/HP_0007667 HP:0005004 biolink:PhenotypicFeature Flattened proximal radial epiphyses An abnormally flat form of the proximal epiphysis of the radius. UMLS:C1849065 hp.json http://purl.obolibrary.org/obo/HP_0005004 HP:0005005 biolink:PhenotypicFeature Femoral bowing present at birth, straightening with time Congenital onset bending or abnormal curvature of the femur that normalizes with age. UMLS:C1833754 hp.json Bowing of thighbone at birth, straightening with time http://purl.obolibrary.org/obo/HP_0005005 HP:0032633 biolink:PhenotypicFeature Intratubular hyaline casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. hp.json Intratubular Tamm-Horsfall (uromodulin) casts http://purl.obolibrary.org/obo/HP_0032633 HP:0032636 biolink:PhenotypicFeature Tubulointerstitial viral infiltration Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. hp.json Renal tubulointerstitial viral inclusions http://purl.obolibrary.org/obo/HP_0032636 HP:0032635 biolink:PhenotypicFeature Tubulointerstitial microganismal infiltration Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. hp.json http://purl.obolibrary.org/obo/HP_0032635 HP:0007668 biolink:PhenotypicFeature Impaired pursuit initiation and maintenance UMLS:C1969722 hp.json http://purl.obolibrary.org/obo/HP_0007668 HP:0007663 biolink:PhenotypicFeature Reduced visual acuity UMLS:C0234632|SNOMEDCT_US:13164000 hp.json Decreased clarity of vision|Decreased visual acuity|Decreased central vision|Poor visual acuity http://purl.obolibrary.org/obo/HP_0007663 HP:0005001 biolink:PhenotypicFeature Recurrent patellar dislocation Patellar dislocation occurring repeated times. UMLS:C0409412|SNOMEDCT_US:202246002 hp.json Recurrent dislocation of patellas http://purl.obolibrary.org/obo/HP_0005001 HP:0007665 biolink:PhenotypicFeature Curly eyelashes Abnormally curly or curved eyelashes. UMLS:C2673670 hp.json Curly eyelashes http://purl.obolibrary.org/obo/HP_0007665 hposlim_core HP:0005003 biolink:PhenotypicFeature Aplasia/Hypoplasia of the capital femoral epiphysis Absence or underdevelopment of the proximal epiphysis of the femur. UMLS:C4025261 hp.json Absent/underdeveloped end part of innermost thighbone|Absent/small end part of innermost thighbone http://purl.obolibrary.org/obo/HP_0005003 HP:0007661 biolink:PhenotypicFeature Abnormality of chorioretinal pigmentation UMLS:C4024819 hp.json http://purl.obolibrary.org/obo/HP_0007661 HP:0032641 biolink:PhenotypicFeature Renal interstitial granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. hp.json Renal interstitial granulomata http://purl.obolibrary.org/obo/HP_0032641 HP:0032640 biolink:PhenotypicFeature Elevated circulating CCL18 level An increased concentration of C-C motif chemokine ligand 18 in the blood circulation. hp.json Increased C-C motif chemokine ligand 18 concentration http://purl.obolibrary.org/obo/HP_0032640 HP:0032643 biolink:PhenotypicFeature Renal interstitial non-necrotizing granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. hp.json Renal interstitial non-necrotizing granulomata http://purl.obolibrary.org/obo/HP_0032643 HP:0032642 biolink:PhenotypicFeature Renal interstitial necrotizing granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. hp.json Renal interstitial necrotizing granulomata http://purl.obolibrary.org/obo/HP_0032642 PATO:0001748 biolink:NamedThing invaginated A shape quality in which a portion of the outermost boundary of an entity folds in space such that a portion that was originally convex is now concave. hp.json http://purl.obolibrary.org/obo/PATO_0001748 value_slim|mpath_slim|cell_quality HP:0032649 biolink:PhenotypicFeature Skewfoot A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus. hp.json Skew foot|Skew-foot http://purl.obolibrary.org/obo/HP_0032649 HP:0005019 biolink:PhenotypicFeature Diaphyseal thickening UMLS:C1835473 hp.json Thickening of shaft or central part of long bones http://purl.obolibrary.org/obo/HP_0005019 HP:0032648 biolink:PhenotypicFeature Tubularization of Bowman capsule The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. hp.json http://purl.obolibrary.org/obo/HP_0032648 HP:0007678 biolink:PhenotypicFeature Lacrimal duct stenosis Narrowing of a tear duct (lacrimal duct). UMLS:C0238300|SNOMEDCT_US:231841004 hp.json Nasolacrimal duct stenosis|Narrowing of the tear duct http://purl.obolibrary.org/obo/HP_0007678 HP:0032645 biolink:PhenotypicFeature Renal interstitial mononuclear cell infiltration Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). hp.json http://purl.obolibrary.org/obo/HP_0032645 HP:0007677 biolink:PhenotypicFeature Vitelliform-like macular lesions Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula. MSH:D057826|UMLS:C0339510|SNOMEDCT_US:90036004|UMLS:C4024817 hp.json Vitelliform macular dystrophy|Vitelliform macular lesions http://purl.obolibrary.org/obo/HP_0007677 HP:0032644 biolink:PhenotypicFeature Renal interstitial deposits Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0032644 HP:0032647 biolink:PhenotypicFeature Renal tubular epithelial cell apoptosis Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. hp.json http://purl.obolibrary.org/obo/HP_0032647 HP:0005017 biolink:PhenotypicFeature Polyarticular chondrocalcinosis UMLS:C4025258 hp.json http://purl.obolibrary.org/obo/HP_0005017 HP:0032646 biolink:PhenotypicFeature Renal interstitial xanthogranulomatous inflammation Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. hp.json http://purl.obolibrary.org/obo/HP_0032646 HP:0005011 biolink:PhenotypicFeature Mesomelic arm shortening Shortening of the middle parts of the arm in relation to the upper and terminal segments. UMLS:C1862087 hp.json Upper limb brachymesomelia|Mesomelia of the upper limbs http://purl.obolibrary.org/obo/HP_0005011 HP:0007676 biolink:PhenotypicFeature Hypoplasia of the iris Congenital underdevelopment of the iris. UMLS:C0344539|SNOMEDCT_US:95714006 hp.json Underdeveloped iris|Hypoplastic iris|Iris hypoplasia http://purl.obolibrary.org/obo/HP_0007676 hposlim_core HP:0005013 biolink:PhenotypicFeature Dysplastic distal radial epiphyses Abnormally developed (dysplastic) distal epiphysis of the radius. UMLS:C1862131 hp.json http://purl.obolibrary.org/obo/HP_0005013 HP:0007675 biolink:PhenotypicFeature Progressive night blindness UMLS:C4024818 hp.json Progressive night blindness http://purl.obolibrary.org/obo/HP_0007675 HP:0007670 biolink:PhenotypicFeature Abnormal vestibulo-ocular reflex An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. UMLS:C4021571 hp.json Abnormal vestibuloocular reflex http://purl.obolibrary.org/obo/HP_0007670 HP:0005010 biolink:PhenotypicFeature Osteomyelitis leading to amputation due to slow healing fractures UMLS:C1864975 hp.json http://purl.obolibrary.org/obo/HP_0005010 HP:0032652 biolink:PhenotypicFeature Elevated CSF chitotriosidase 1 level Increased concentration of chitotriosidase 1 in cerebrospinal fluid. hp.json http://purl.obolibrary.org/obo/HP_0032652 HP:0032651 biolink:PhenotypicFeature Elevated CSF chitinase-3-like protein 1 level Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid. hp.json http://purl.obolibrary.org/obo/HP_0032651 HP:0032654 biolink:PhenotypicFeature Impaired flow-mediated arterial dilatation Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery. hp.json Endothelial dysfunction http://purl.obolibrary.org/obo/HP_0032654 HP:0032653 biolink:PhenotypicFeature Elevated lactate:pyruvate ratio An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032653 HP:0032650 biolink:PhenotypicFeature Elevated CSF glial fibrillary acidic protein level Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid. hp.json http://purl.obolibrary.org/obo/HP_0032650 HP:0007649 biolink:PhenotypicFeature Congenital hypertrophy of retinal pigment epithelium Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. UMLS:C0339555|SNOMEDCT_US:232074003 hp.json http://purl.obolibrary.org/obo/HP_0007649 HP:0007648 biolink:PhenotypicFeature Punctate cataract A type of cataract with punctate opacities of the lens. UMLS:C0271165|UMLS:C1969675|SNOMEDCT_US:40714009 hp.json Punctate lenticular opacities http://purl.obolibrary.org/obo/HP_0007648 HP:0032659 biolink:PhenotypicFeature Non-convulsive status epilepticus with coma A type of status epilepticus without prominent motor symptoms and in the presence of coma. hp.json Subtle status epilepticus http://purl.obolibrary.org/obo/HP_0032659 HP:0032656 biolink:PhenotypicFeature Febrile status epilepticus A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult. hp.json Fever-induced status epilepticus http://purl.obolibrary.org/obo/HP_0032656 HP:0032655 biolink:PhenotypicFeature Decreased adipose tissue tocopherol level A reduced concentration of tocopherol in fat tissue. hp.json http://purl.obolibrary.org/obo/HP_0032655 HP:0032658 biolink:PhenotypicFeature Status epilepticus with prominent motor symptoms Status epilepticus with prominent motor signs during the prolonged seizure. hp.json http://purl.obolibrary.org/obo/HP_0032658 HP:0007647 biolink:PhenotypicFeature Congenital extraocular muscle anomaly Congenital abnormality of the extraocular muscles. UMLS:C4024823 hp.json http://purl.obolibrary.org/obo/HP_0007647 HP:0007646 biolink:PhenotypicFeature Absent lower eyelashes Lack of eyelashes on the lower lid. UMLS:C4024824 hp.json Atrichia of lower eyelashes|Aplasia of lower eyelashes|Agenesis of lower eyelashes|Absent lower eyelashes|Failure of development of lower eyelashes http://purl.obolibrary.org/obo/HP_0007646 HP:0032657 biolink:PhenotypicFeature Elevated circulating lyso-globotriaosylsphingosine concentration An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032657 HP:0007641 biolink:PhenotypicFeature Dyschromatopsia A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. UMLS:C0858618 hp.json Color blindness|Colour blindness http://purl.obolibrary.org/obo/HP_0007641 HP:0007643 biolink:PhenotypicFeature Peripheral tractional retinal detachment Tractional retinal detachment at the periphery of the retina. UMLS:C4024825 hp.json Peripheral traction retinal detachment|Tractional retinal detachment at the periphery of the retina http://purl.obolibrary.org/obo/HP_0007643 HP:0007642 biolink:PhenotypicFeature Congenital stationary night blindness A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. SNOMEDCT_US:232061009|MSH:C537743|UMLS:C3551052|UMLS:C0339535|MSH:C536122|UMLS:C1306122|SNOMEDCT_US:193687000|UMLS:C4048798 hp.json Congenital night blindness|Night blindness, stationary|Static congenital hemeralopia|Night blindness, congenital|Night blindness since birth|Night blindness, congenital stationary|Night blindness, congenital stationary, complete http://purl.obolibrary.org/obo/HP_0007642 HP:0032663 biolink:PhenotypicFeature Focal motor status epilepticus Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. hp.json http://purl.obolibrary.org/obo/HP_0032663 HP:0030000 biolink:PhenotypicFeature EMG: repetitive nerve stimulation abnormality Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. UMLS:C4022681 hp.json http://purl.obolibrary.org/obo/HP_0030000 HP:0032662 biolink:PhenotypicFeature Focal-onset seizure evolving into bilateral convulsive status epilepticus A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. hp.json Focal-onset seizure evolving into generalised convulsive status epilepticus|Secondarily generalized tonic-clonic status epilepticus|Secondarily generalised convulsive status epilepticus|Focal onset seizure evolving into bilateral convulsive status epilepticus|Partial-onset seizure evolving into convulsive status epilepticus|Secondarily generalised tonic-clonic status epilepticus|Partial onset seizure evolving into convulsive status epilepticus|Focal-onset seizure evolving into generalized convulsive status epilepticus|Secondarily generalized convulsive status epilepticus http://purl.obolibrary.org/obo/HP_0032662 HP:0030001 biolink:PhenotypicFeature Lagopthalmos A condition in which the eyelids do not close to cover the eye completely. UMLS:C4022680 hp.json Eyelids stay open|Inability to close the eyelids http://purl.obolibrary.org/obo/HP_0030001 CHEBI:58190 biolink:ChemicalSubstance O-phosphonatoethanaminium(1-) An organophosphate oxoanion that is the conjugate base of O-phosphoethanolamine arising from deprotonation of the phosphate OH groups and protonation of the amino group; major species at pH 7.3. hp.json phosphoethanolamine|2-azaniumylethyl phosphate|O-phosphonatoethanaminium|2-ammonioethyl phosphate http://purl.obolibrary.org/obo/CHEBI_58190 3_STAR HP:0032665 biolink:PhenotypicFeature Repeated focal motor seizures A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus. hp.json Jacksonian status epilepticus http://purl.obolibrary.org/obo/HP_0032665 HP:0030002 biolink:PhenotypicFeature Nocturnal lagophthalmos The inability to close the eyelids during sleep. SNOMEDCT_US:417740005|UMLS:C1563118 hp.json Inability to close the eyelids at night|Eyelids stay open at night http://purl.obolibrary.org/obo/HP_0030002 HP:0032664 biolink:PhenotypicFeature Adversive status epilepticus A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus. hp.json http://purl.obolibrary.org/obo/HP_0032664 HP:0030003 biolink:PhenotypicFeature Paralytic lagophthalmos A type of lagophthalmos that occurs in association with facial nerve palsy. UMLS:C0155197|SNOMEDCT_US:59890007 hp.json http://purl.obolibrary.org/obo/HP_0030003 HP:0032661 biolink:PhenotypicFeature Generalized convulsive status epilepticus A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. hp.json Generalised convulsive status epilepticus http://purl.obolibrary.org/obo/HP_0032661 HP:0032660 biolink:PhenotypicFeature Convulsive status epilepticus A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. comment: source: seeAlso: Tonic-clonic status epilepticus hp.json Tonic-clonic status epilepticus http://purl.obolibrary.org/obo/HP_0032660 HP:0030008 biolink:PhenotypicFeature Cervical agenesis Congenital absence of the cervix. UMLS:C0266404|SNOMEDCT_US:37687000 hp.json Cervical aplasia|Absent cervix|Aplasia of the cervix http://purl.obolibrary.org/obo/HP_0030008 HP:0030009 biolink:PhenotypicFeature Cervical insufficiency A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent MSH:D002581|SNOMEDCT_US:17382005|UMLS:C0007871 hp.json Incompetent cervix http://purl.obolibrary.org/obo/HP_0030009 HP:0007659 biolink:PhenotypicFeature obsolete Decreased retinal pigmentation with dispersion hp.json http://purl.obolibrary.org/obo/HP_0007659 HP:0030004 biolink:PhenotypicFeature Cicatricial lagophthalmos A type of lagophthalmos that occurs following trauma or surgery. UMLS:C0155199|SNOMEDCT_US:9042000 hp.json Eyelids stay open due to scarring|Inability to close the eyelids due to scarring http://purl.obolibrary.org/obo/HP_0030004 HP:0032667 biolink:PhenotypicFeature Myoclonic status epilepticus A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography. hp.json http://purl.obolibrary.org/obo/HP_0032667 HP:0007656 biolink:PhenotypicFeature Lacrimal gland aplasia A congenital defect of development characterized by absence of the lacrimal gland. UMLS:C4024822 hp.json Absent tear gland http://purl.obolibrary.org/obo/HP_0007656 HP:0030005 biolink:PhenotypicFeature Capillary leak An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes. UMLS:C1382398|MSH:D019559|SNOMEDCT_US:87730004|UMLS:C0343084|SNOMEDCT_US:1608005 hp.json Systemic capillary leak syndrome|Increased capillary permeability http://purl.obolibrary.org/obo/HP_0030005 HP:0007655 biolink:PhenotypicFeature Eversion of lateral third of lower eyelids UMLS:C1835801 hp.json http://purl.obolibrary.org/obo/HP_0007655 HP:0032666 biolink:PhenotypicFeature Hyperkinetic status epilepticus Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements. hp.json http://purl.obolibrary.org/obo/HP_0032666 HP:0032669 biolink:PhenotypicFeature Myoclonic status epilepticus with coma A type of myoclonic status epilepticus in the presence of coma. hp.json http://purl.obolibrary.org/obo/HP_0032669 HP:0030006 biolink:PhenotypicFeature Single fiber EMG abnormality Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers. UMLS:C4022679 hp.json Single fibre EMG abnormality http://purl.obolibrary.org/obo/HP_0030006 HP:0007658 biolink:PhenotypicFeature Large hyperpigmented retinal spots UMLS:C4024820 hp.json http://purl.obolibrary.org/obo/HP_0007658 HP:0030007 biolink:PhenotypicFeature EMG: positive sharp waves These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. SNOMEDCT_US:251527008|UMLS:C0429349 hp.json http://purl.obolibrary.org/obo/HP_0030007 HP:0032668 biolink:PhenotypicFeature Myoclonic status epilepticus without coma A type of myoclonic status epilepticus in the absence of coma. hp.json http://purl.obolibrary.org/obo/HP_0032668 HP:0007657 biolink:PhenotypicFeature Diffuse nuclear cataract Opacity of the entire lens nucleus. UMLS:C4024821 hp.json http://purl.obolibrary.org/obo/HP_0007657 HP:0007651 biolink:PhenotypicFeature Ectropion of lower eyelids UMLS:C4020808|UMLS:C0521736|SNOMEDCT_US:95758006 hp.json Lower eyelid folded out|Everted lower eyelids|Lower eyelid turned out http://purl.obolibrary.org/obo/HP_0007651 HP:0007654 biolink:PhenotypicFeature obsolete Retinal striation hp.json http://purl.obolibrary.org/obo/HP_0007654 HP:0007650 biolink:PhenotypicFeature Progressive ophthalmoplegia UMLS:C2062713 hp.json http://purl.obolibrary.org/obo/HP_0007650 UBERON:0003928 biolink:AnatomicalEntity digestive system duct A duct that is part of a digestive system [Automatically generated definition]. ZFA:0005162|TAO:0005162 hp.json duct of digestive system|duct of gastrointestinal system|gastrointestinal system duct http://purl.obolibrary.org/obo/UBERON_0003928 UBERON:0003929 biolink:AnatomicalEntity digestive tract epithelium An epithelium that lines the lumen of the digestive tract. MA:0003201|EHDAA2:0004567|ZFA:0005123|TAO:0005123|UMLS:C0836205|EMAPA:32928|BTO:0000956|NCIT:C12963|XAO:0003200 hp.json gastrodermis|epithelium of digestive tract|epithelium of gut|epithelial tissue of digestive tract|alimentary tract epithelium|epithelial tissue of gut|gut epithelium|digestive tract epithelial tissue|gut epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003929 HP:0005050 biolink:PhenotypicFeature Anterolateral radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. UMLS:C1968610 hp.json Anterior/lateral radial head dislocation http://purl.obolibrary.org/obo/HP_0005050 UBERON:0003924 biolink:AnatomicalEntity ventral pancreatic bud Pancreatic bud that gives rise to the major pancreatic duct. AAO:0011111|EFO:0003464|ZFA:0001369|XAO:0001103|TAO:0001369|EMAPA:17256|EHDAA2:0001389|VHOG:0001429 hp.json pancreas ventral primordium duct bud|ventral pancreas anlage|pancreas primordium ventral bud|anterior pancreatic anlage|ventral pancreatic anlage|anterior pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003924 efo_slim|vertebrate_core UBERON:0003922 biolink:AnatomicalEntity pancreatic epithelial bud The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. NCIT:C34242|EMAPA:35645|ZFA:0001390|TAO:0001390|UMLS:C1283285|EFO:0003470 hp.json pancreas epithelium|pancreatic anlage|pancreatic bud|pancreatic buds http://purl.obolibrary.org/obo/UBERON_0003922 efo_slim UBERON:0003923 biolink:AnatomicalEntity dorsal pancreatic bud Pancreatic bud that gives rise to the accessory pancreatic duct. ZFA:0001370|EHDAA2:0001385|EFO:0003465|AAO:0011031|TAO:0001370|XAO:0000467|EMAPA:17067|VHOG:0001428 hp.json dorsal pancreas anlage|primary pancreatic bud|pancreas dorsal primordium duct bud|posterior pancreatic anlage|posterior pancreatic bud|pancreas primordium dorsal bud|dorsal pancreatic anlage http://purl.obolibrary.org/obo/UBERON_0003923 efo_slim|vertebrate_core HP:0005048 biolink:PhenotypicFeature Synostosis of carpal bones UMLS:C1836193 hp.json Fusion of wrist bones http://purl.obolibrary.org/obo/HP_0005048 UBERON:0003931 biolink:AnatomicalEntity diencephalic white matter White matter that is part of a diencephalon [Automatically generated definition]. BIRNLEX:1678|ZFA:0000338|TAO:0000338|FMA:83931 hp.json predominantly white regional part of diencephalon|diencephalic tracts and commissures|white matter of diencephalon|diencephalic tract/commissure http://purl.obolibrary.org/obo/UBERON_0003931 vertebrate_core UBERON:0003932 biolink:AnatomicalEntity cartilage element of chondrocranium A cartilage element of chondrocranium. Example: neurocranial trabecula. EFO:0003690|ZFA:0001461|TAO:0001461 hp.json neurocranium cartilage|cartilage of chondrocranium|chondrocranium cartilage|cartilaginous element of chondrocranium http://purl.obolibrary.org/obo/UBERON_0003932 efo_slim HP:0005045 biolink:PhenotypicFeature Diaphyseal cortical sclerosis An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C1833739 hp.json http://purl.obolibrary.org/obo/HP_0005045 UBERON:0003930 biolink:AnatomicalEntity atrioventricular canal endocardium Endocardium that is part of the atrioventricular canal[ZFA,vetted]. TAO:0002170|XAO:0004124|ZFA:0001616 hp.json AVC endocardium|AV canal endocardium|endocardium of atrioventricular canal|endocardium of AV canal http://purl.obolibrary.org/obo/UBERON_0003930 HP:0005041 biolink:PhenotypicFeature Irregular capital femoral epiphysis Irregular surface of the normally relatively smooth capital femoral epiphysis. UMLS:C4020825 hp.json Irregular proximal femoral epiphyses|Irregular capital femoral epiphyses|Irregular end part of innermost thighbone http://purl.obolibrary.org/obo/HP_0005041 HP:0005042 biolink:PhenotypicFeature Irregular, rachitic-like metaphyses UMLS:C1866700 hp.json http://purl.obolibrary.org/obo/HP_0005042 HP:0005043 biolink:PhenotypicFeature Proximal humeral metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder). UMLS:C1865128 hp.json Irregular proximal humeral metaphyses http://purl.obolibrary.org/obo/HP_0005043 PATO:0001707 biolink:NamedThing behavioural active A behavioral quality of a process inhering in a bearer by virtue of the bearer's exhibiting marked activity. hp.json http://purl.obolibrary.org/obo/PATO_0001707 value_slim PATO:0001708 biolink:NamedThing 1-D extent A size quality inhering in an bearer by virtue of the bearer's extension in one dimension. hp.json 1-D size http://purl.obolibrary.org/obo/PATO_0001708 attribute_slim UBERON:0003918 biolink:AnatomicalEntity kidney mesenchyme Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. hp.json mesenchyme of kidney http://purl.obolibrary.org/obo/UBERON_0003918 pheno_slim|human_reference_atlas UBERON:0003915 biolink:AnatomicalEntity endothelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. hp.json http://purl.obolibrary.org/obo/UBERON_0003915 HP:0005060 biolink:PhenotypicFeature Limited elbow flexion/extension UMLS:C1968605 hp.json http://purl.obolibrary.org/obo/HP_0005060 UBERON:0003916 biolink:AnatomicalEntity fat pad A mass of closely packed fat cells (adipose tissue) surrounded by fibrous tissue septa[TMD]. FMA:58616|BTO:0000444|MA:0002481|EMAPA:35340 hp.json fat body http://purl.obolibrary.org/obo/UBERON_0003916 pheno_slim UBERON:0003913 biolink:AnatomicalEntity tooth-like structure Hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. HAO:0001019 hp.json tooth-like organ http://purl.obolibrary.org/obo/UBERON_0003913 grouping_class UBERON:0003914 biolink:AnatomicalEntity epithelial tube Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. EHDAA2:0003114|FBbt:00007474|AEO:0000114 hp.json epithelial or endothelial tube http://purl.obolibrary.org/obo/UBERON_0003914 UBERON:0003911 biolink:AnatomicalEntity choroid plexus epithelium The epithelial component of the choroid plexus. Consists of cuboidal epithelial cells surrounding a core of capillaries and loose connective tissue. FMA:242811|MA:0000824|UMLS:C1516506|NCIT:C42079|EMAPA:36608 hp.json choroid plexus epithelial tissue|epithelium of choroid plexus|epithelial tissue of choroid plexus|epithelial tissue of chorioid plexus of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0003911 HP:0032605 biolink:PhenotypicFeature High renal tubular epithelial cell N/C ratio At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. hp.json High N/C ratio of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032605 HP:0032604 biolink:PhenotypicFeature Renal tubular epithelial cell mitosis Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. hp.json http://purl.obolibrary.org/obo/HP_0032604 HP:0032607 biolink:PhenotypicFeature Renal tubular epithelial cell swelling Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. hp.json http://purl.obolibrary.org/obo/HP_0032607 PR:P55097 biolink:Protein cathepsin K (mouse) A cathepsin K that is encoded in the genome of mouse. UniProtKB:P55097 hp.json Ctsk|mCTSK http://purl.obolibrary.org/obo/PR_P55097 HP:0032606 biolink:PhenotypicFeature Renal tubular epithelial lipofuscin Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. hp.json http://purl.obolibrary.org/obo/HP_0032606 CHEBI:58163 biolink:ChemicalSubstance homocystine zwitterion Dizwitterionic form of homocystine arising from transfer of two protons from the carboxy to the amino groups; major species at pH 7.3. hp.json 4,4'-disulfanediylbis(2-azaniumylbutanoate)|homocystine dizwitterion|4,4'-disulfanediylbis(2-ammoniobutanoate) http://purl.obolibrary.org/obo/CHEBI_58163 3_STAR HP:0005059 biolink:PhenotypicFeature Arthralgia/arthritis UMLS:C4025256 hp.json Joint pain/Joint inflammation http://purl.obolibrary.org/obo/HP_0005059 HP:0032601 biolink:PhenotypicFeature Multinucleation of renal tubular epithelial cells Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. hp.json http://purl.obolibrary.org/obo/HP_0032601 HP:0032600 biolink:PhenotypicFeature Renal tubular epithelial cell hyaline droplets Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. hp.json http://purl.obolibrary.org/obo/HP_0032600 HP:0032603 biolink:PhenotypicFeature Renal tubular epithelial cell simplification Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. hp.json http://purl.obolibrary.org/obo/HP_0032603 HP:0032602 biolink:PhenotypicFeature Prominent nucleoli of renal tubular epithelial cells Tubular epithelium with nucleoli clearly visible at 100-fold magnification. hp.json http://purl.obolibrary.org/obo/HP_0032602 UBERON:0003920 biolink:AnatomicalEntity venous blood vessel A blood vessel that carries blood from the capillaries toward the heart. FMA:86188|MA:0000066|EMAPA:35932 hp.json segment of venous tree organ|venous tree organ segment http://purl.obolibrary.org/obo/UBERON_0003920 UBERON:0003921 biolink:AnatomicalEntity pancreas primordium Embryonic structure that develops into pancreatic bud. EFO:0003434|EHDAA:2163|EHDAA2:0001382|FMA:79792|XAO:0001101|ZFA:0000254|EMAPA:17066|TAO:0000254|EFO:0002579 hp.json primordial pancreas|pancreatic primordium|pancreatic endoderm|pancreatic anlage http://purl.obolibrary.org/obo/UBERON_0003921 efo_slim|vertebrate_core HP:0032609 biolink:PhenotypicFeature Endocrine-type tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. hp.json Endocrinization pattern of tubular atrophy|Renal tubular atrophy, endocrine-type http://purl.obolibrary.org/obo/HP_0032609 HP:0032608 biolink:PhenotypicFeature Thyroidization-type tubular atrophy A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. hp.json http://purl.obolibrary.org/obo/HP_0032608 HP:0005054 biolink:PhenotypicFeature Metaphyseal spurs Bony outgrowths that extend laterally from the margin of the metaphysis. UMLS:C1832988 hp.json http://purl.obolibrary.org/obo/HP_0005054 UBERON:0003907 biolink:AnatomicalEntity left atrioventricular canal An atrioventricular canal that is in the left side of a atrioventricular region. EHDAA:5336|FMA:71123|EHDAA2:0000935 hp.json left atrio-ventricular canal|left AVC http://purl.obolibrary.org/obo/UBERON_0003907 HP:0007690 biolink:PhenotypicFeature Map-dot-fingerprint corneal dystrophy SNOMEDCT_US:32935005|UMLS:C0271285 hp.json http://purl.obolibrary.org/obo/HP_0007690 UBERON:0003902 biolink:AnatomicalEntity retinal neural layer The part of the retina that contains neurons and photoreceptor cells[GO]. TAO:0000046|EHDAA:4763|FMA:58628|NCIT:C33166|VHOG:0000535|EHDAA2:0001253|EMAPA:18590|EMAPA:17171|UMLS:C1518263|BTO:0000929|CALOHA:TS-0685|AAO:0011095|XAO:0003216|ZFA:0000046|MA:0000277 hp.json neuroretina|neural retinal epithelium|neural retina|stratum nervosum (retina)|stratum nervosum retinae|neural layer of retina http://purl.obolibrary.org/obo/UBERON_0003902 pheno_slim|vertebrate_core UBERON:0003900 biolink:AnatomicalEntity epaxial myotome region Portion of myotome that is dorsal to the horizontal septum. ZFA:0001084|TAO:0001084 hp.json epaxial myotome regions http://purl.obolibrary.org/obo/UBERON_0003900 UBERON:0003901 biolink:AnatomicalEntity horizontal septum A logitudinal sheet of continuous connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses; each is destined to become, respectively, the epaxial and hyopaxial musculature. TAO:0000671|EFO:0003555|ZFA:0000671 hp.json horizontal septum of vertebra|horizontal myoseptum http://purl.obolibrary.org/obo/UBERON_0003901 efo_slim PATO:0001710 biolink:NamedThing 3-D extent A size quality inhering in an bearer by virtue of the bearer's extension in three dimensions. hp.json 3D size http://purl.obolibrary.org/obo/PATO_0001710 attribute_slim HGNC:317 biolink:Gene AFP (human) A protein coding gene AFP in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=317 PATO:0001711 biolink:NamedThing perimeter An 1-D extent quality inhering in two-dimensional bearer by virtue of being equal to the distance around it. hp.json http://purl.obolibrary.org/obo/PATO_0001711 scalar_slim|attribute_slim HP:0032610 biolink:PhenotypicFeature Tubulointerstitial mycobacterial infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. hp.json Renal tubulointerstitial mycobacterial organisms http://purl.obolibrary.org/obo/HP_0032610 PATO:0001714 biolink:NamedThing increased diameter A diameter which is relatively large. hp.json http://purl.obolibrary.org/obo/PATO_0001714 value_slim PATO:0001715 biolink:NamedThing decreased diameter A diameter which is relatively small. hp.json http://purl.obolibrary.org/obo/PATO_0001715 value_slim UBERON:0003908 biolink:AnatomicalEntity right atrioventricular canal An atrioventricular canal that is in the right side of a atrioventricular region. EHDAA:5338|FMA:71122|EHDAA2:0001719 hp.json right AVC|right atrio-ventricular canal http://purl.obolibrary.org/obo/UBERON_0003908 PATO:0001712 biolink:NamedThing increased perimeter A perimeter which is relatively high. hp.json http://purl.obolibrary.org/obo/PATO_0001712 value_slim UBERON:0003909 biolink:AnatomicalEntity sinusoid Small blood vessel similar to a capillary but with a fenestrated endothelium. Sinusoids are found in the liver, lymphoid tissue, endocrine organs, and hematopoietic organs such as the bone marrow and the spleen. Sinusoids found within terminal villi of the placenta are not comparable to these; they possess a continuous endothelium and complete basal lamina[WP]. SCTID:340163004|ZFA:0005261|FMA:63131|TAO:0005261|Wikipedia:Sinusoid_(blood_vessel) hp.json sinusoidal blood vessel endothelium|sinusoidal blood vessel|sinusoidal endothelium|sinusoidal capillary|endothelium of irregular blood filled space|sinusoidal capillary http://purl.obolibrary.org/obo/UBERON_0003909 vertebrate_core PATO:0001713 biolink:NamedThing decreased perimeter A perimeter which is relatively low. hp.json http://purl.obolibrary.org/obo/PATO_0001713 value_slim HP:0032616 biolink:PhenotypicFeature Renal interstitial immunoglobulin deposits Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). hp.json Renal interstitial immunoglobulin deposition http://purl.obolibrary.org/obo/HP_0032616 HP:0032615 biolink:PhenotypicFeature Abnormal diffusion weighted cerebral MRI morphology A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images. hp.json MRI diffusion abnormality of the cerebrum|Diffusion weighted imaging (DWI) abnormality|Diffusion weighted magnetic resonance imaging (DWI) abnormality http://purl.obolibrary.org/obo/HP_0032615 HP:0032618 biolink:PhenotypicFeature Renal necrosis Cell death (necrosis) affecting one or more parts of the kidney. hp.json Renal parenchymal necrosis http://purl.obolibrary.org/obo/HP_0032618 HP:0032617 biolink:PhenotypicFeature Renal interstitial hemorrhage A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. hp.json Renal interstitial haemorrhage http://purl.obolibrary.org/obo/HP_0032617 HP:0032612 biolink:PhenotypicFeature Triphalangeal hallux A hallux (big toe) with three phalanges in a single, proximo-distal axis. hp.json http://purl.obolibrary.org/obo/HP_0032612 HP:0005026 biolink:PhenotypicFeature Mesomelic/rhizomelic limb shortening UMLS:C1866239 hp.json http://purl.obolibrary.org/obo/HP_0005026 HP:0032611 biolink:PhenotypicFeature Renal tubular epithelial cell hemosiderin Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. hp.json http://purl.obolibrary.org/obo/HP_0032611 HP:0007688 biolink:PhenotypicFeature Undetectable light- and dark-adapted electroretinogram Absence of the combined rod-and-cone response on electroretinogram. UMLS:C4021570 hp.json Absent rod-and cone-mediated responses on ERG|Absent cone and rod functions by electroretinogram http://purl.obolibrary.org/obo/HP_0007688 HP:0005028 biolink:PhenotypicFeature Widened proximal tibial metaphyses UMLS:C1836187 hp.json Wide innermost wide portion of shinbone bone|Wide innermost wide portion of shankbone bone http://purl.obolibrary.org/obo/HP_0005028 HP:0032614 biolink:PhenotypicFeature Renal glomerular amyloid deposition Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. hp.json http://purl.obolibrary.org/obo/HP_0032614 HP:0032613 biolink:PhenotypicFeature Renal interstitial amyloid deposits Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. hp.json Renal interstitial amyloid|Renal interstitial amyloidosis|Renal interstitial amyloid deposition http://purl.obolibrary.org/obo/HP_0032613 HP:0007685 biolink:PhenotypicFeature Peripheral retinal avascularization UMLS:C1851406 hp.json http://purl.obolibrary.org/obo/HP_0007685 HP:0007687 biolink:PhenotypicFeature Unilateral ptosis A unilateral form of ptosis. UMLS:C1866806 hp.json Dropping of one upper eyelid http://purl.obolibrary.org/obo/HP_0007687 HP:0007686 biolink:PhenotypicFeature Abnormal pupillary function A functional abnormality of the pupil. UMLS:C0917967|SNOMEDCT_US:72124005|MSH:D011681 hp.json http://purl.obolibrary.org/obo/HP_0007686 HP:0005025 biolink:PhenotypicFeature Hypoplastic distal humeri Underdevelopment of the distal portion of the humerus. UMLS:C1968607 hp.json http://purl.obolibrary.org/obo/HP_0005025 HP:0032619 biolink:PhenotypicFeature Perinephric abscess A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). hp.json http://purl.obolibrary.org/obo/HP_0032619 HP:0007680 biolink:PhenotypicFeature Depigmented fundus UMLS:C4024816 hp.json http://purl.obolibrary.org/obo/HP_0007680 HP:0005021 biolink:PhenotypicFeature Bilateral elbow dislocations UMLS:C3278429 hp.json Dislocated elbows on both sides http://purl.obolibrary.org/obo/HP_0005021 HP:0032621 biolink:PhenotypicFeature Hyperchromasia of renal tubular epithelial cells At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. hp.json Condensed chromatin of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032621 HP:0032620 biolink:PhenotypicFeature Intrarenal abscess An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. hp.json Renal parenchymal abcess|Renal abscess http://purl.obolibrary.org/obo/HP_0032620 HP:0032627 biolink:PhenotypicFeature Intratubular leukocyte casts Casts that contain white blood cells and are located within the tubuli of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0032627 HP:0032626 biolink:PhenotypicFeature Intratubular vancomycin casts Intratubular casts composed of vancomycin aggregates and uromodulin. hp.json http://purl.obolibrary.org/obo/HP_0032626 PR:P55075 biolink:Protein fibroblast growth factor 8 (human) A fibroblast growth factor 8 that is encoded in the genome of human. UniProtKB:P55075 hp.json HBGF-8 (human)|heparin-binding growth factor 8 (human)|AIGF|androgen-induced growth factor (human)|hFGF8|FGF8|FGF-8 (human) http://purl.obolibrary.org/obo/PR_P55075 HP:0032629 biolink:PhenotypicFeature Intratubular dihydroxyadenuria crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. hp.json http://purl.obolibrary.org/obo/HP_0032629 HP:0032628 biolink:PhenotypicFeature Renal intratubular crystals hp.json http://purl.obolibrary.org/obo/HP_0032628 HP:0032623 biolink:PhenotypicFeature Renal intratubular casts Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. hp.json Tubular casts http://purl.obolibrary.org/obo/HP_0032623 HP:0005037 biolink:PhenotypicFeature Proximal radio-ulnar synostosis An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. UMLS:C2676443 hp.json http://purl.obolibrary.org/obo/HP_0005037 HP:0032622 biolink:PhenotypicFeature Tubular luminal dilatation Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. hp.json Tubular ectasia http://purl.obolibrary.org/obo/HP_0032622 HP:0005039 biolink:PhenotypicFeature Multiple long-bone exostoses Multiple exostoses originating in long bones. UMLS:C1835583 hp.json Multiple exostoses of long tubular bones http://purl.obolibrary.org/obo/HP_0005039 HP:0032625 biolink:PhenotypicFeature Intratubular erythrocyte cast Casts that contain red blood cells and are located within the tubuli of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0032625 HP:0032624 biolink:PhenotypicFeature Intratubular bilirubin casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). hp.json http://purl.obolibrary.org/obo/HP_0032624 HP:0005033 biolink:PhenotypicFeature Distal ulnar hypoplasia Underdevelopment of the distal portion of the ulna. UMLS:C1833145 hp.json Distal shortening of ulna|Hypoplastic distal ulna http://purl.obolibrary.org/obo/HP_0005033 HP:0007695 biolink:PhenotypicFeature Abnormal pupillary light reflex An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. UMLS:C1970591 hp.json http://purl.obolibrary.org/obo/HP_0007695 HP:0005035 biolink:PhenotypicFeature Shortening of all phalanges of the toes Developmental hypoplasia (shortening) of all phalanges of the foot. UMLS:C4025257 hp.json Short toe bones http://purl.obolibrary.org/obo/HP_0005035 HP:0007698 biolink:PhenotypicFeature obsolete Retinal pigment epithelial atrophy hp.json http://purl.obolibrary.org/obo/HP_0007698 HP:0007697 biolink:PhenotypicFeature Hypoplasia of the lower eyelids Underdevelopment of the lower eyelid. UMLS:C4280420|UMLS:C4280270|UMLS:C4024814 hp.json Decreased size of lower eyelid|Small lower eyelid|Underdevelopment of lower eyelid|Hypotrophic lower eyelid|Short lower eyelid http://purl.obolibrary.org/obo/HP_0007697 HP:0005036 biolink:PhenotypicFeature Unilateral ulnar hypoplasia Underdevelopment of the ulna on only one side. UMLS:C1837832 hp.json http://purl.obolibrary.org/obo/HP_0005036 HP:0007692 biolink:PhenotypicFeature obsolete Nonnuclear polymorphic congenital cataract hp.json http://purl.obolibrary.org/obo/HP_0007692 HP:0007691 biolink:PhenotypicFeature obsolete Short curly eyelashes hp.json http://purl.obolibrary.org/obo/HP_0007691 GO:0047496 biolink:BiologicalProcess vesicle transport along microtubule The directed movement of a vesicle along a microtubule, mediated by motor proteins. This process begins with the attachment of a vesicle to a microtubule, and ends when the vesicle reaches its final destination. hp.json microtubule-based vesicle localization http://purl.obolibrary.org/obo/GO_0047496 GO:1901568 biolink:BiologicalProcess fatty acid derivative metabolic process The chemical reactions and pathways involving fatty acid derivative. hp.json fatty acid derivative metabolism http://purl.obolibrary.org/obo/GO_1901568 GO:1901566 biolink:BiologicalProcess organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. hp.json organonitrogen compound anabolism|organonitrogen compound biosynthesis|organonitrogen compound synthesis|organonitrogen compound formation http://purl.obolibrary.org/obo/GO_1901566 GO:1901564 biolink:BiologicalProcess organonitrogen compound metabolic process The chemical reactions and pathways involving organonitrogen compound. hp.json organonitrogen compound metabolism http://purl.obolibrary.org/obo/GO_1901564 GO:1901570 biolink:BiologicalProcess fatty acid derivative biosynthetic process The chemical reactions and pathways resulting in the formation of fatty acid derivative. hp.json fatty acid derivative biosynthesis|fatty acid derivative anabolism|fatty acid derivative synthesis|fatty acid derivative formation http://purl.obolibrary.org/obo/GO_1901570 GO:0060474 biolink:NamedThing positive regulation of flagellated sperm motility involved in capacitation hp.json http://purl.obolibrary.org/obo/GO_0060474 GO:0060479 biolink:BiologicalProcess lung cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features of a mature cell found in the lung. Differentiation includes the processes involved in commitment of a cell to a specific fate. hp.json pulmonary cell differentiation http://purl.obolibrary.org/obo/GO_0060479 GO:1901576 biolink:BiologicalProcess organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. hp.json organic molecular entity formation|organic molecular entity biosynthesis|organic molecular entity biosynthetic process|organic substance anabolism|organic substance biosynthesis|organic molecular entity anabolism|organic substance synthesis|organic molecular entity synthesis|organic substance formation http://purl.obolibrary.org/obo/GO_1901576 GO:1901575 biolink:BiologicalProcess organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. hp.json organic molecular entity breakdown|organic molecular entity catabolism|organic molecular entity catabolic process|organic substance catabolism|organic substance degradation|organic molecular entity degradation|organic substance breakdown http://purl.obolibrary.org/obo/GO_1901575 GO:0060460 biolink:BiologicalProcess left lung morphogenesis The process in which anatomical structures of the left lung are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0060460 GO:0060461 biolink:BiologicalProcess right lung morphogenesis The process in which anatomical structures of the right lung are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0060461 GO:0060462 biolink:BiologicalProcess lung lobe development The biological process whose specific outcome is the progression of a lung lobe from an initial condition to its mature state. This process begins with the formation of a lung lobe by branching morphogenesis and ends with the mature structure. A lung lobe is one of the rounded projections that compose the lung. hp.json http://purl.obolibrary.org/obo/GO_0060462 GO:0060463 biolink:BiologicalProcess lung lobe morphogenesis The process in which the anatomical structures of a lung lobe are generated and organized. A lung lobe is a projection that extends from the lung. hp.json http://purl.obolibrary.org/obo/GO_0060463 GO:0060464 biolink:BiologicalProcess lung lobe formation The developmental process pertaining to the initial formation of a lung lobe from unspecified parts. This process begins with the specific processes that contribute to the appearance of the lobe and ends when the structural rudiment is recognizable. A lung lobe is a projection that extends from the lung. hp.json http://purl.obolibrary.org/obo/GO_0060464 GO:0060465 biolink:BiologicalProcess pharynx development The biological process whose specific outcome is the progression of a pharynx from an initial condition to its mature state. The pharynx is the part of the digestive system immediately posterior to the mouth. hp.json pharyngeal development http://purl.obolibrary.org/obo/GO_0060465 GO:0060467 biolink:BiologicalProcess negative regulation of fertilization Any process that decreases the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). hp.json http://purl.obolibrary.org/obo/GO_0060467 GO:0060468 biolink:BiologicalProcess prevention of polyspermy The negative regulation of fertilization process that takes place as part of egg activation, ensuring that only a single sperm fertilizes the egg. hp.json negative regulation of fertilization involved in egg activation|polyspermy block http://purl.obolibrary.org/obo/GO_0060468 GO:1901589 biolink:CellularComponent axon microtubule bundle An arrangement of closely apposed microtubules running parallel to each other in the axon hillock and initial segment. NIF_Subcellular:sao707332678 hp.json axon microtubule fascicle|microtubule bundle of axon|microtubule fascicle of axon http://purl.obolibrary.org/obo/GO_1901589 GO:0060491 biolink:BiologicalProcess regulation of cell projection assembly Any process that modulates the rate, frequency, or extent of cell projection assembly. hp.json regulation of cell projection formation http://purl.obolibrary.org/obo/GO_0060491 GO:0060495 biolink:BiologicalProcess cell-cell signaling involved in lung development Any process that mediates the transfer of information from one cell to another and contributes to the progression of the lung, from its initial state to the mature structure. hp.json cell-cell signalling involved in lung development http://purl.obolibrary.org/obo/GO_0060495 GO:0060485 biolink:BiologicalProcess mesenchyme development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. hp.json mesenchymal development http://purl.obolibrary.org/obo/GO_0060485 GO:0060487 biolink:BiologicalProcess lung epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell that contributes to the epithelium of the lung. hp.json pulmonary epithelial cell differentiation http://purl.obolibrary.org/obo/GO_0060487 NCBITaxon:2301119 biolink:OrganismalEntity Rhabditomorpha GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_2301119 NCBITaxon:2301116 biolink:OrganismalEntity Rhabditina GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_2301116 HP:0007627 biolink:PhenotypicFeature Mandibular condyle aplasia SNOMEDCT_US:235119009|UMLS:C4280429|UMLS:C4280437|UMLS:C4280436|UMLS:C4280435|UMLS:C4280434|UMLS:C4280433|UMLS:C4280432|UMLS:C4280431|UMLS:C0399570|UMLS:C4280430 hp.json Underdevelopment of condylar head of mandible|Underdevelopment of condylar neck of mandible|Agenesis of condylar process of mandible|Underdevelopment of condylar process of mandible|Absence of the condylar process of mandible|Failure of development of condylar head of mandible|Failure of development of condylar neck of mandible|Failure of development of the condylar process of mandible|Absence of the condylar head of mandible|Absence of the condylar neck of mandible|Agenesis of condylar head of mandible|Agenesis of condylar neck of mandible http://purl.obolibrary.org/obo/HP_0007627 HP:0007626 biolink:PhenotypicFeature Mandibular osteomyelitis Osteomyelitis of the lower jaw. UMLS:C1290708|SNOMEDCT_US:109695005 hp.json Lower jaw bone infection|Osteomyelitis, especially of the mandible http://purl.obolibrary.org/obo/HP_0007626 HP:0007628 biolink:PhenotypicFeature Mandibular condyle hypoplasia UMLS:C4280428|UMLS:C4280427|UMLS:C4280426|UMLS:C4280425|UMLS:C4280424|UMLS:C4280423|UMLS:C0399572|SNOMEDCT_US:235120003 hp.json Hypoplasia of condylar process of mandible|Hypoplasia of condylar head of mandible|Hypoplasia of condylar neck of mandible|Small mandibular condyle|Hypotrophic mandibular condyle|Hypoplasia of subcondylar region of mandible|Hypotrophic condylar process of mandible|Decreased size of mandibular condyle|Decreased size of condylar process of mandible|Small condylar head of mandible|Hypoplasia of mandibular condyle|Small condylar neck of mandible http://purl.obolibrary.org/obo/HP_0007628 HP:0007623 biolink:PhenotypicFeature Pigmentation anomalies of sun-exposed skin UMLS:C4024826 hp.json Abnormal pigmentation in sun-exposed skin http://purl.obolibrary.org/obo/HP_0007623 HP:0007621 biolink:PhenotypicFeature Telangiectasia of extensor surfaces UMLS:C4024827 hp.json http://purl.obolibrary.org/obo/HP_0007621 HP:0007620 biolink:PhenotypicFeature Cutaneous leiomyoma The presence of leiomyoma of the skin. SNOMEDCT_US:254767008|NCIT:C3157|UMLS:C0346064 hp.json Cutaneous leiomyomata|Cutaneous leiomyomas http://purl.obolibrary.org/obo/HP_0007620 HP:0007634 biolink:PhenotypicFeature Nonarteritic anterior ischemic optic neuropathy An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. UMLS:C1852242 hp.json Nonarteritic anterior ischaemic optic neuropathy http://purl.obolibrary.org/obo/HP_0007634 HP:0007633 biolink:PhenotypicFeature Bilateral microphthalmos A developmental anomaly characterized by abnormal smallness of both eyes. UMLS:C4280422|UMLS:C4280421|UMLS:C1843496 hp.json Bilateral nanophthalmos|Decreased size of globes of eyes|Decreased size of eyeballs|Abnormally small eyeball on both sides|Microphthalmia, bilateral http://purl.obolibrary.org/obo/HP_0007633 GO:0072488 biolink:BiologicalProcess ammonium transmembrane transport The process in which ammonium is transported across a membrane. Ammonium is the cation NH4+. hp.json ammonium transport|ammonium membrane transport|ammonia transport http://purl.obolibrary.org/obo/GO_0072488 HP:0007609 biolink:PhenotypicFeature Hypoproteinemic edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). UMLS:C4024832 hp.json Hypoproteinemic oedema http://purl.obolibrary.org/obo/HP_0007609 HP:0007608 biolink:PhenotypicFeature Abnormal palmar dermal ridges UMLS:C4024833 hp.json http://purl.obolibrary.org/obo/HP_0007608 GO:0035441 biolink:BiologicalProcess cell migration involved in vasculogenesis The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes. hp.json http://purl.obolibrary.org/obo/GO_0035441 HP:0007605 biolink:PhenotypicFeature Excessive wrinkling of palmar skin UMLS:C4021572 hp.json Redundant, wrinkled skin of palms http://purl.obolibrary.org/obo/HP_0007605 HP:0007607 biolink:PhenotypicFeature Hypohidrotic ectodermal dysplasia MSH:D053358|UMLS:C0162359|SNOMEDCT_US:7731005|SNOMEDCT_US:239007005 hp.json http://purl.obolibrary.org/obo/HP_0007607 HP:0007606 biolink:PhenotypicFeature Multiple cutaneous malignancies UMLS:C4024834 hp.json http://purl.obolibrary.org/obo/HP_0007606 HP:0007601 biolink:PhenotypicFeature Midline facial capillary hemangioma UMLS:C1840310 hp.json http://purl.obolibrary.org/obo/HP_0007601 HP:0007603 biolink:PhenotypicFeature Freckles in sun-exposed areas UMLS:C1859923 hp.json Freckles in sun-exposed areas http://purl.obolibrary.org/obo/HP_0007603 HP:0007602 biolink:PhenotypicFeature Complex palmar dermatoglyphic pattern UMLS:C4024835 hp.json http://purl.obolibrary.org/obo/HP_0007602 HP:0007616 biolink:PhenotypicFeature Nevus flammeus nuchae Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. UMLS:C0860468|UMLS:C4280438|UMLS:C4024829 hp.json Angel's kiss|Port-wine stain on neck|Stork bite|Salmon patch http://purl.obolibrary.org/obo/HP_0007616 HP:0007618 biolink:PhenotypicFeature Subcutaneous calcification Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). UMLS:C0263625|SNOMEDCT_US:17141001 hp.json Skin calcification http://purl.obolibrary.org/obo/HP_0007618 hposlim_core HP:0007617 biolink:PhenotypicFeature Fine, reticulate skin pigmentation UMLS:C4024828 hp.json http://purl.obolibrary.org/obo/HP_0007617 GO:0035435 biolink:BiologicalProcess phosphate ion transmembrane transport The process in which a phosphate is transported across a membrane. hp.json phosphate ion membrane transport http://purl.obolibrary.org/obo/GO_0035435 HP:0007613 biolink:PhenotypicFeature Spinous keratoses of palms and soles UMLS:C4024830 hp.json http://purl.obolibrary.org/obo/HP_0007613 HP:0007610 biolink:PhenotypicFeature Blotching pigmentation of the skin UMLS:C4024831 hp.json http://purl.obolibrary.org/obo/HP_0007610 CHEBI:83057 biolink:ChemicalSubstance Daphnia metabolite A crustacean metabolite produced by the genus of small planktonic arthropods, Daphnia Wikipedia:Daphnia hp.json Daphnia metabolites http://purl.obolibrary.org/obo/CHEBI_83057 3_STAR CHEBI:83056 biolink:ChemicalSubstance Daphnia magna metabolite A Daphnia metabolite produced by the species Daphnia magna. hp.json Daphnia magna metabolites http://purl.obolibrary.org/obo/CHEBI_83056 3_STAR UBERON:0001394 biolink:AnatomicalEntity axillary artery Artery that supplies the axilla. galen:AxillaryArtery|NCIT:C32169|GAID:473|UMLS:C0004455|MESH:D001366|MA:0002573|OpenCyc:Mx4rwRh-vZwpEbGdrcN5Y29ycA|FMA:22654|EMAPA:18749 hp.json arteria axillaris|axillary part of trunk of subclavian artery|axillary part of subclavian artery http://purl.obolibrary.org/obo/UBERON_0001394 uberon_slim|human_reference_atlas CHEBI:12777 biolink:ChemicalSubstance vitamin A Any member of a group of fat-soluble retinoids produced via metabolism of provitamin A carotenoids that exhibit biological activity against vitamin A deficiency. Vitamin A is involved in immune function, vision, reproduction, and cellular communication. MetaCyc:Vitamin-A|Wikipedia:Vitamin_A hp.json vitamin-A|vitamin A vitamers|vitamins A|vitamin A vitamer http://purl.obolibrary.org/obo/CHEBI_12777 3_STAR UBERON:0001397 biolink:AnatomicalEntity subscapular artery The subscapular artery, the largest branch of the axillary artery, arises at the lower border of the Subscapularis, which it follows to the inferior angle of the scapula, where it anastomoses with the lateral thoracic and intercostal arteries and with the descending branch of the transverse cervical, and ends in the neighboring muscles. About 4 cm. from its origin it gives off two branches, first the scapular circumflex artery and then the thoracodorsal artery. [WP,unvetted]. UMLS:C0226422|EMAPA:37116|NCIT:C33650|FMA:22677|MA:0002050 hp.json arteria subscapularis http://purl.obolibrary.org/obo/UBERON_0001397 uberon_slim|human_reference_atlas UBERON:0001380 biolink:AnatomicalEntity vastus medialis The vastus medialis, often called the 'teardrop' muscle, is a medially located muscle of the quadriceps. [WP,unvetted]. EMAPA:36245|MA:0002403|NCIT:C117736|galen:VastusMedialis|BTO:0004913|FMA:22432 hp.json vastus medialis muscle|vastus internus|medialis http://purl.obolibrary.org/obo/UBERON_0001380 uberon_slim UBERON:0001383 biolink:AnatomicalEntity muscle of leg A muscle that is part of the region of the hindlimb between the pelvis and ankle. EMAPA:19318|EHDAA:8291|MA:0000672|BTO:0000722|EMAPA:19144|RETIRED_EHDAA2:0000974 hp.json leg muscle|muscle of hindlimb zeugopod or stylopod|muscle of thigh or crus|leg skeletal muscle tissue|skeletal muscle of leg|muscle of upper or lower hindlimb segment|muscle of upper/lower leg|leg skeletal muscle|leg muscle organ|muscle organ of leg http://purl.obolibrary.org/obo/UBERON_0001383 uberon_slim|pheno_slim UBERON:0001389 biolink:AnatomicalEntity soleus muscle A deep muscle of the triceps surae group, in the superficial posterior compartment of the leg. FMA:22542|EMAPA:35786|BTO:0001265|UMLS:C0242694|galen:Soleus|EFO:0001946|MA:0002424|NCIT:C53075 hp.json soleus http://purl.obolibrary.org/obo/UBERON_0001389 uberon_slim|pheno_slim|efo_slim UBERON:0001388 biolink:AnatomicalEntity gastrocnemius The most superficial muscle of the triceps surae group, in the posterior portion of the lower hindleg. FMA:22541|MA:0002306|EMAPA:35375|EHDAA2:0000701|NCIT:C32666|BTO:0000506|UMLS:C0242691|EHDAA:8293|galen:Gastrocnemius|VHOG:0001193|EFO:0001413 hp.json m. gastrocnemius|musculus gastrocnemius|m.gastrocnemius|gastrocnemius muscle http://purl.obolibrary.org/obo/UBERON_0001388 uberon_slim|pheno_slim|efo_slim UBERON:0001385 biolink:AnatomicalEntity tibialis anterior A muscle that originates in the upper two-thirds of the lateral surface of the tibia and inserts into the medial cuneiform and first metatarsal bones of the foot. Its acts to invert the foot. It is situated on the lateral side of the tibia; it is thick and fleshy above, tendinous below. This muscle overlaps the anterior tibial vessels and deep peroneal nerve in the upper part of the leg. [WP,unvetted]. The M. tibialis cranialis is a muscle that flexes the tarsometatarsus. It originates on the craniodistal aspect of the femur and proximal tibiotarsus and inserts on the cranial surface of the tarsometarsus[EvoWiki]. EFO:0001385|UMLS:C1710423|BTO:0001382|NCIT:C53079|galen:TibialisAnterior|MA:0002395|EMAPA:35866|FMA:22532 hp.json ibialis anticus|tibialis cranialis|tibialis anterior muscle|tibilais cranialis|musculus tibialis anterior|anterior tibialis http://purl.obolibrary.org/obo/UBERON_0001385 uberon_slim|pheno_slim|efo_slim UBERON:0001384 biolink:AnatomicalEntity primary motor cortex The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html. NCIT:C97339|EFO:0002472|MESH:D009044|BM:Tel-Cx-M1|MA:0000907|BAMS:MOp|EMAPA:35704|BAMS:M1|MBA:985|DHBA:10162|BAMS:MO|BTO:0004348|UMLS:C0026607|NLX:143555|FMA:224854 hp.json Rolando's area|excitable area|somatic motor areas|motor area|prefrontal gyrus|gyrus precentralis|motor cortex|primary motor area|somatomotor areas http://purl.obolibrary.org/obo/UBERON_0001384 uberon_slim|pheno_slim|efo_slim|human_reference_atlas GO:1901509 biolink:BiologicalProcess regulation of endothelial tube morphogenesis Any process that modulates the frequency, rate or extent of endothelial tube morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_1901509 GO:0060411 biolink:BiologicalProcess cardiac septum morphogenesis The process in which the anatomical structure of a cardiac septum is generated and organized. A cardiac septum is a partition that separates parts of the heart. hp.json heart septum morphogenesis http://purl.obolibrary.org/obo/GO_0060411 GO:0060412 biolink:BiologicalProcess ventricular septum morphogenesis The developmental process in which a ventricular septum is generated and organized. A ventricular septum is an anatomical structure that separates the lower chambers (ventricles) of the heart from one another. hp.json interventricular septum morphogenesis http://purl.obolibrary.org/obo/GO_0060412 PR:000009127 biolink:Protein integrin alpha-IIb An integrin alpha lacking A domain that is a translation product of the human ITGA2B gene or a 1:1 ortholog thereof. IUPHARobj:2441 hp.json platelet membrane glycoprotein IIb|ITGA2B|GPalpha IIb|ITGAB|GP2B|CD41|GPIIb http://purl.obolibrary.org/obo/PR_000009127 GO:0060413 biolink:BiologicalProcess atrial septum morphogenesis The developmental process in which atrial septum is generated and organized. The atrial septum separates the upper chambers (the atria) of the heart from one another. hp.json interatrial septum morphogenesis http://purl.obolibrary.org/obo/GO_0060413 GO:0060414 biolink:BiologicalProcess aorta smooth muscle tissue morphogenesis The process in which the structure of the smooth muscle tissue surrounding the aorta is generated and organized. An aorta is an artery that carries blood from the heart to other parts of the body. hp.json http://purl.obolibrary.org/obo/GO_0060414 GO:0060415 biolink:BiologicalProcess muscle tissue morphogenesis The process in which the anatomical structures of muscle tissue are generated and organized. Muscle tissue consists of a set of cells that are part of an organ and carry out a contractive function. hp.json http://purl.obolibrary.org/obo/GO_0060415 OIO:hasOBOFormatVersion biolink:NamedThing has_obo_format_version hp.json http://www.geneontology.org/formats/oboInOwl#hasOBOFormatVersion UBERON:0001378 biolink:AnatomicalEntity rectus femoris The Rectus femoris muscle is one of the four quadriceps muscles of the human body. (The others are the vastus medialis, the vastus intermedius, and the vastus lateralis. All four combine to form the quadriceps tendon, which inserts into the patella and continues as the patellar ligament. ) The Rectus femoris is situated in the middle of the front of the thigh; it is fusiform in shape, and its superficial fibers are arranged in a bipenniform manner, the deep fibers running straight down to the deep aponeurosis. [WP,unvetted]. BTO:0001564|FMA:22430|EMAPA:36266|MA:0002365|UMLS:C0584894|NCIT:C53175 hp.json musculus rectos femoris http://purl.obolibrary.org/obo/UBERON_0001378 uberon_slim UBERON:0001377 biolink:AnatomicalEntity quadriceps femoris One of the muscles belong to the group consisting of the rectus femoris and the three heads of the vastus (lateralis, medialis, intermedius). EHDAA2:0001583|EHDAA:8299|EFO:0001938|UMLS:C0224440|VHOG:0000828|EMAPA:19146|FMA:22428|OpenCyc:Mx4rvVjd-JwpEbGdrcN5Y29ycA|galen:QuadricepsFemoris|BTO:0001149|MA:0002363|NCIT:C33441 hp.json musculus quadriceps femoris|quadricep muscle|quadriceps muscle of the thigh|quadriceps muscle of thigh|quadriceps femoris muscle|quadriceps muscle|quadriceps|musculus quadriceps femoris http://purl.obolibrary.org/obo/UBERON_0001377 efo_slim|uberon_slim|pheno_slim UBERON:0001379 biolink:AnatomicalEntity vastus lateralis The Vastus lateralis (Vastus externus) is the largest part of the Quadriceps femoris. It arises by a broad aponeurosis, which is attached to the upper part of the intertrochanteric line, to the anterior and inferior borders of the greater trochanter, to the lateral lip of the gluteal tuberosity, and to the upper half of the lateral lip of the linea aspera; this aponeurosis covers the upper three-fourths of the muscle, and from its deep surface many fibers take origin. A few additional fibers arise from the tendon of the Glutæus maximus, and from the lateral intermuscular septum between the Vastus lateralis and short head of the Biceps femoris. The fibers form a large fleshy mass, which is attached to a strong aponeurosis, placed on the deep surface of the lower part of the muscle: this aponeurosis becomes contracted and thickened into a flat tendon inserted into the lateral border of the patella, blending with the Quadriceps femoris tendon, and giving an expansion to the capsule of the knee-joint. [WP,unvetted]. NCIT:C53073|BTO:0001563|FMA:22431|EFO:0001937|EMAPA:36244|MA:0002402|galen:VastusLateralis|UMLS:C0224444 hp.json lateralis|vastus lateralis muscle|vastus externus http://purl.obolibrary.org/obo/UBERON_0001379 efo_slim|uberon_slim GO:0060419 biolink:BiologicalProcess heart growth The increase in size or mass of the heart. hp.json http://purl.obolibrary.org/obo/GO_0060419 UBERON:0001359 biolink:AnatomicalEntity cerebrospinal fluid A clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord. MAT:0000499|MESH:D002555|BTO:0000237|EV:0100311|NCIT:C12692|ZFA:0001626|EHDAA2:0004441|BIRNLEX:1798|TAO:0002184|VHOG:0001278|UMLS:C0007806|ENVO:02000029|MA:0002503|GAID:1181|EFO:0000329|FMA:20935|CALOHA:TS-0130|UMLS:C0007806 hp.json liquor cerebrospinalis|spinal fluid|CSF|cerebral spinal fluid http://purl.obolibrary.org/obo/UBERON_0001359 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0001361 biolink:AnatomicalEntity femoral vein In the human body, the femoral vein is a blood vessel that accompanies the femoral artery in the femoral sheath. It begins at the adductor canal (also known as Hunter's canal) and is a continuation of the popliteal vein. It ends at the inferior margin of the inguinal ligament, where it becomes the external iliac vein. [WP,unvetted]. NCIT:C12716|galen:FemoralVein|EMAPA:17876|GAID:533|MA:0002118|FMA:21185|AAO:0010237|UMLS:C0015809|OpenCyc:Mx4rwFXTLJwpEbGdrcN5Y29ycA|MESH:D005268 hp.json vena femoralis http://purl.obolibrary.org/obo/UBERON_0001361 human_reference_atlas|uberon_slim CHEBI:36735 biolink:ChemicalSubstance biladienes Compounds based on a biladiene skeleton. hp.json http://purl.obolibrary.org/obo/CHEBI_36735 3_STAR GO:0060404 biolink:BiologicalProcess axonemal microtubule depolymerization The removal of tubulin heterodimers from one or both ends of an axonemal microtubule. An axonemal microtubule is a microtubule in the axoneme of a cilium or flagellum; an axoneme contains nine modified doublet microtubules surrounding a pair of single microtubules. hp.json http://purl.obolibrary.org/obo/GO_0060404 GO:0060405 biolink:BiologicalProcess regulation of penile erection Any process that modulates the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. hp.json http://purl.obolibrary.org/obo/GO_0060405 CHEBI:48706 biolink:ChemicalSubstance antagonist Substance that attaches to and blocks cell receptors that normally bind naturally occurring substances. hp.json antagoniste|antagonists|antagonista|antagonist http://purl.obolibrary.org/obo/CHEBI_48706 3_STAR CHEBI:48705 biolink:ChemicalSubstance agonist Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own. hp.json agonista|agonist|agoniste|agonists http://purl.obolibrary.org/obo/CHEBI_48705 3_STAR UBERON:0001366 biolink:AnatomicalEntity parietal peritoneum The outer layer of peritoneum that is attached to the abdominal and pelvic walls. ZFA:0005131|AAO:0010816|SCTID:362700006|TAO:0005131|FMA:21451|Wikipedia:Parietal_peritoneum|VHOG:0001527|EMAPA:16591 hp.json parietal serous membrane of peritoneum|peritoneal cavity lining http://purl.obolibrary.org/obo/UBERON_0001366 uberon_slim|vertebrate_core GO:0060406 biolink:BiologicalProcess positive regulation of penile erection Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. hp.json http://purl.obolibrary.org/obo/GO_0060406 GO:0060407 biolink:BiologicalProcess negative regulation of penile erection Any process that stops, prevents, or reduces the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. hp.json http://purl.obolibrary.org/obo/GO_0060407 UBERON:0001365 biolink:AnatomicalEntity sacro-iliac joint The joint in the bony pelvis between the sacrum and the ilium of the pelvis, which are joined by strong ligaments. MA:0001506|UMLS:C0036036|NCIT:C33507|FMA:21440|GAID:268|MESH:D012446|EMAPA:19300 hp.json articulatio sacro-iliaca|sacroiliac joint http://purl.obolibrary.org/obo/UBERON_0001365 uberon_slim|pheno_slim GO:0060431 biolink:BiologicalProcess primary lung bud formation The morphogenetic process in which the foregut region specified to become the lung forms the initial left and right buds. hp.json lung formation http://purl.obolibrary.org/obo/GO_0060431 CHEBI:36700 biolink:ChemicalSubstance phosphocholines hp.json http://purl.obolibrary.org/obo/CHEBI_36700 GO:0060437 biolink:BiologicalProcess lung growth The increase in size or mass of a lung. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. hp.json http://purl.obolibrary.org/obo/GO_0060437 GO:0060438 biolink:BiologicalProcess trachea development The process whose specific outcome is the progression of a trachea over time, from its formation to the mature structure. The trachea is the portion of the airway that attaches to the bronchi as it branches. hp.json http://purl.obolibrary.org/obo/GO_0060438 GO:0060439 biolink:BiologicalProcess trachea morphogenesis The process in which a trachea is generated and organized. The trachea is the portion of the airway that attaches to the bronchi as it branches. hp.json http://purl.obolibrary.org/obo/GO_0060439 SO:0000110 biolink:SequenceFeature sequence_feature An extent of biological sequence. hp.json sequence feature|located_sequence_feature|located sequence feature http://purl.obolibrary.org/obo/SO_0000110 GO:1901534 biolink:BiologicalProcess positive regulation of hematopoietic progenitor cell differentiation Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation. hp.json activation of hemopoietic progenitor cell differentiation|up regulation of hematopoietic progenitor cell differentiation|up-regulation of haemopoietic progenitor cell differentiation|positive regulation of hemopoietic progenitor cell differentiation|activation of haematopoietic progenitor cell differentiation|upregulation of haematopoietic progenitor cell differentiation|upregulation of hemopoietic progenitor cell differentiation|upregulation of hematopoietic progenitor cell differentiation|activation of haemopoietic progenitor cell differentiation|upregulation of haemopoietic progenitor cell differentiation|activation of hematopoietic progenitor cell differentiation|positive regulation of haematopoietic progenitor cell differentiation|up regulation of haematopoietic progenitor cell differentiation|up-regulation of hemopoietic progenitor cell differentiation|positive regulation of haemopoietic progenitor cell differentiation|up-regulation of haematopoietic progenitor cell differentiation|up-regulation of hematopoietic progenitor cell differentiation|up regulation of haemopoietic progenitor cell differentiation|up regulation of hemopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_1901534 GO:1901532 biolink:BiologicalProcess regulation of hematopoietic progenitor cell differentiation Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation. hp.json regulation of haemopoietic progenitor cell differentiation|regulation of hemopoietic progenitor cell differentiation|regulation of haematopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_1901532 GO:1901533 biolink:BiologicalProcess negative regulation of hematopoietic progenitor cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation. hp.json downregulation of haemopoietic progenitor cell differentiation|down regulation of haematopoietic progenitor cell differentiation|inhibition of hematopoietic progenitor cell differentiation|down-regulation of haematopoietic progenitor cell differentiation|down regulation of haemopoietic progenitor cell differentiation|negative regulation of haematopoietic progenitor cell differentiation|down-regulation of hemopoietic progenitor cell differentiation|negative regulation of hemopoietic progenitor cell differentiation|down-regulation of hematopoietic progenitor cell differentiation|down regulation of hemopoietic progenitor cell differentiation|negative regulation of haemopoietic progenitor cell differentiation|down-regulation of haemopoietic progenitor cell differentiation|inhibition of haematopoietic progenitor cell differentiation|down regulation of hematopoietic progenitor cell differentiation|inhibition of hemopoietic progenitor cell differentiation|downregulation of hemopoietic progenitor cell differentiation|inhibition of haemopoietic progenitor cell differentiation|downregulation of hematopoietic progenitor cell differentiation|downregulation of haematopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_1901533 GO:0060420 biolink:BiologicalProcess regulation of heart growth Any process that modulates the rate or extent of heart growth. Heart growth is the increase in size or mass of the heart. hp.json http://purl.obolibrary.org/obo/GO_0060420 GO:0060421 biolink:BiologicalProcess positive regulation of heart growth Any process that increases the rate or extent of heart growth. Heart growth is the increase in size or mass of the heart. hp.json http://purl.obolibrary.org/obo/GO_0060421 CHEBI:36711 biolink:ChemicalSubstance phosphoethanolamine hp.json phosphoethanolamines http://purl.obolibrary.org/obo/CHEBI_36711 3_STAR GO:0060425 biolink:BiologicalProcess lung morphogenesis The process in which the anatomical structures of the lung are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0060425 GO:0060426 biolink:BiologicalProcess lung vasculature development The biological process whose specific outcome is the progression of a lung vasculature from an initial condition to its mature state. This process begins with the formation of the lung vasculature and ends with the mature structure. The lung vasculature is composed of the tubule structures that carry blood or lymph in the lungs. hp.json pulmonary vasculature development http://purl.obolibrary.org/obo/GO_0060426 GO:0060427 biolink:BiologicalProcess lung connective tissue development The biological process whose specific outcome is the progression of lung connective tissue from an initial condition to its mature state. This process begins with the formation of lung connective tissue and ends with the mature structure. The lung connective tissue is a material made up of fibers forming a framework and support structure for the lungs. hp.json pulmonary connective tissue development http://purl.obolibrary.org/obo/GO_0060427 GO:0060428 biolink:BiologicalProcess lung epithelium development The biological process whose specific outcome is the progression of the lung epithelium from an initial condition to its mature state. This process begins with the formation of lung epithelium and ends with the mature structure. The lung epithelium is the specialized epithelium that lines the inside of the lung. hp.json pulmonary epithelium development http://purl.obolibrary.org/obo/GO_0060428 GO:0060429 biolink:BiologicalProcess epithelium development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. hp.json http://purl.obolibrary.org/obo/GO_0060429 goslim_drosophila OIO:hasBroadSynonym biolink:NamedThing has_broad_synonym hp.json http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym NCBITaxon:33154 biolink:OrganismalEntity Opisthokonta GC_ID:1 hp.json opisthokonts|Fungi/Metazoa group http://purl.obolibrary.org/obo/NCBITaxon_33154 GO:0060450 biolink:BiologicalProcess positive regulation of hindgut contraction Any process that increases the frequency, rate or extent of muscle contraction of the hindgut, the posterior part of the alimentary canal, including the rectum, and the large intestine. hp.json http://purl.obolibrary.org/obo/GO_0060450 GO:0060451 biolink:BiologicalProcess negative regulation of hindgut contraction Any process that decreases the frequency, rate or extent of muscle contraction of the hindgut, the posterior part of the alimentary canal, including the rectum, and the large intestine. hp.json http://purl.obolibrary.org/obo/GO_0060451 GO:0060452 biolink:BiologicalProcess positive regulation of cardiac muscle contraction Any process that increases the frequency, rate or extent of cardiac muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_0060452 GO:0060453 biolink:BiologicalProcess regulation of gastric acid secretion Any process that modulates the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. hp.json http://purl.obolibrary.org/obo/GO_0060453 GO:0060454 biolink:BiologicalProcess positive regulation of gastric acid secretion Any process that increases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. hp.json http://purl.obolibrary.org/obo/GO_0060454 GO:0060455 biolink:BiologicalProcess negative regulation of gastric acid secretion Any process that decreases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. hp.json http://purl.obolibrary.org/obo/GO_0060455 GO:0060456 biolink:BiologicalProcess positive regulation of digestive system process Any process that increases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. hp.json http://purl.obolibrary.org/obo/GO_0060456 GO:0060457 biolink:BiologicalProcess negative regulation of digestive system process Any process that decreases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. hp.json http://purl.obolibrary.org/obo/GO_0060457 GO:0060458 biolink:BiologicalProcess right lung development The biological process whose specific outcome is the progression of a right lung from an initial condition to its mature state. This process begins with the formation of the right lung and ends with the mature structure. The right lung is the lung which is on the right side of the anterior posterior axis looking from a dorsal to ventral aspect. hp.json right pulmonary development http://purl.obolibrary.org/obo/GO_0060458 GO:0060459 biolink:BiologicalProcess left lung development The biological process whose specific outcome is the progression of a left lung from an initial condition to its mature state. This process begins with the formation of the left lung and ends with the mature structure. The left lung is the lung which is on the left side of the anterior posterior axis looking from a dorsal to ventral aspect. hp.json left pulmonary development http://purl.obolibrary.org/obo/GO_0060459 CHEBI:24712 biolink:ChemicalSubstance hydroxymethyl group hp.json serine side-chain|-CH2-OH|hydroxymethyl http://purl.obolibrary.org/obo/CHEBI_24712 3_STAR GO:1901552 biolink:BiologicalProcess positive regulation of endothelial cell development Any process that activates or increases the frequency, rate or extent of endothelial cell development. hp.json activation of endothelial cell development|upregulation of endothelial cell development|up regulation of endothelial cell development|up-regulation of endothelial cell development http://purl.obolibrary.org/obo/GO_1901552 GO:1901550 biolink:BiologicalProcess regulation of endothelial cell development Any process that modulates the frequency, rate or extent of endothelial cell development. hp.json http://purl.obolibrary.org/obo/GO_1901550 GO:1901551 biolink:BiologicalProcess negative regulation of endothelial cell development Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell development. hp.json down regulation of endothelial cell development|inhibition of endothelial cell development|down-regulation of endothelial cell development|downregulation of endothelial cell development http://purl.obolibrary.org/obo/GO_1901551 GO:0060440 biolink:BiologicalProcess trachea formation The process pertaining to the initial formation of a trachea from unspecified parts. The process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the trachea is recognizable. The trachea is the portion of the airway that attaches to the bronchi as it branches. hp.json http://purl.obolibrary.org/obo/GO_0060440 GO:0060441 biolink:BiologicalProcess epithelial tube branching involved in lung morphogenesis The process in which a highly ordered sequence of patterning events generates the branched epithelial tubes of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units. hp.json lung branching morphogenesis http://purl.obolibrary.org/obo/GO_0060441 UBERON:0001429 biolink:AnatomicalEntity pisiform A laterally positioned sesamoid bone found in close proximity with and occasionally fused to the ulnare. MA:0001339|galen:Pisiform|NCIT:C12855|FMA:23718|EMAPA:36165|OpenCyc:Mx4rvtByTZwpEbGdrcN5Y29ycA|UMLS:C0223729 hp.json pisiform bone|os pisiforme|accessory carpal bone http://purl.obolibrary.org/obo/UBERON_0001429 uberon_slim HP:0030170 biolink:PhenotypicFeature Cystic artery pseudoaneurysm Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue. UMLS:C4022601 hp.json http://purl.obolibrary.org/obo/HP_0030170 HP:0030171 biolink:PhenotypicFeature Perirenal hematoma A collection of clotted blood surrounding the kidney. UMLS:C0473124|SNOMEDCT_US:197824007 hp.json http://purl.obolibrary.org/obo/HP_0030171 UBERON:0001425 biolink:AnatomicalEntity pectoral lymphatic vessel ZFA:0005107|TAO:0005107|FMA:234865 hp.json PL http://purl.obolibrary.org/obo/UBERON_0001425 vertebrate_core UBERON:0001428 biolink:AnatomicalEntity intermedium Endochondral carpal bone articulating with the ulnare and the radiale. MA:0002556|MESH:D012667|galen:Lunate|EMAPA:37659|NCIT:C12786|UMLS:C0036624|VSAO:0005040|FMA:23712|GAID:181 hp.json semilunate|os lunatum|semilunar|os carpi intermedium|lunate|intermediate carpal bone|lunar|semilunar bone|intermedium|os lunatum|lunate bone http://purl.obolibrary.org/obo/UBERON_0001428 uberon_slim|pheno_slim UBERON:0001427 biolink:AnatomicalEntity radiale Endochondral proximal carpal bone articulating with the radius. GAID:180|EMAPA:37660|AAO:0000790|UMLS:C0223724|galen:Scaphoid|FMA:23709|MA:0002555|NCIT:C12854|OpenCyc:Mx4rwAwWe5wpEbGdrcN5Y29ycA|MESH:D021361 hp.json os scaphoideum|scaphoid bone|scaphoid|scaphoideum|navicular bone of manus|radial carpal bone|navicular of manus|os naviculare manus|navicular of hand|os carpi radiale|navicular bone of hand http://purl.obolibrary.org/obo/UBERON_0001427 uberon_slim|pheno_slim UBERON:0013411 biolink:AnatomicalEntity cranial cavity Anatomical cavity that is the lumen of the skull and contains the brain. Wikipedia:Cranial_cavity|FMA:9644|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2806|SCTID:264452006|UMLS:C0230041|EMAPA:37497|NCIT:C77638|MA:0003061 hp.json cavitas cranii|intracranial space|intracranial space|intracranial cavity|intracranial cavity http://purl.obolibrary.org/obo/UBERON_0013411 HP:0030176 biolink:PhenotypicFeature Asymmetric peripheral demyelination Loss of myelin from peripheral nerves in a pattern that differs between right and left. UMLS:C4022598 hp.json http://purl.obolibrary.org/obo/HP_0030176 HP:0030177 biolink:PhenotypicFeature Abnormality of peripheral nervous system electrophysiology An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. UMLS:C0853150 hp.json Abnormal nerve conduction study http://purl.obolibrary.org/obo/HP_0030177 PATO:0001697 biolink:NamedThing decreased photosensitivity A photosensitivity which is relatively low. hp.json low photosensitivity http://purl.obolibrary.org/obo/PATO_0001697 disposition_slim|relational_slim|value_slim HP:0030178 biolink:PhenotypicFeature Abnormality of central nervous system electrophysiology UMLS:C4022597 hp.json Abnormality of CNS electrophysiology http://purl.obolibrary.org/obo/HP_0030178 HP:0030179 biolink:PhenotypicFeature Abnormal peripheral action potential amplitude An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. UMLS:C4022596 hp.json http://purl.obolibrary.org/obo/HP_0030179 PATO:0001698 biolink:NamedThing increased photosensitivity A photosensitivity which is relatively high. hp.json high photosensitivity http://purl.obolibrary.org/obo/PATO_0001698 disposition_slim|relational_slim|value_slim HP:0030172 biolink:PhenotypicFeature Peripheral amyelination Congenital absence of the myelin sheath on a nerve. UMLS:C4022600 hp.json http://purl.obolibrary.org/obo/HP_0030172 HP:0030173 biolink:PhenotypicFeature Peripheral hypermyelination Increased amount of peripheral myelination. UMLS:C4021049 hp.json Increased peripheral myelination http://purl.obolibrary.org/obo/HP_0030173 HP:0030174 biolink:PhenotypicFeature Increased peripheral myelin thickness Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. UMLS:C4022599 hp.json http://purl.obolibrary.org/obo/HP_0030174 HP:0030175 biolink:PhenotypicFeature Myelin tomacula The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage). UMLS:C4020904 hp.json Tomacula http://purl.obolibrary.org/obo/HP_0030175 PATO:0001690 biolink:NamedThing contractile A contractility quality inhering in a bearer by virtue of the bearer's ability of contracting or being contracted. hp.json http://purl.obolibrary.org/obo/PATO_0001690 disposition_slim|value_slim PATO:0001693 biolink:NamedThing increased viscosity A viscosity which relatively high. hp.json high viscosity http://purl.obolibrary.org/obo/PATO_0001693 disposition_slim|value_slim PATO:0001694 biolink:NamedThing decreased viscosity A viscosity which relatively low. hp.json low viscosity http://purl.obolibrary.org/obo/PATO_0001694 disposition_slim|value_slim UBERON:0001433 biolink:AnatomicalEntity distal carpal bone 4 OpenCyc:Mx4rwFTmuJwpEbGdrcN5Y29ycA|VSAO:0005046|galen:Hamate|MA:0001343|EMAPA:36172|NCIT:C12860|AAO:0000850|UMLS:C0560737|FMA:23730 hp.json os hamatum|os hamatum|carpal 4|unciform bone|distal carpal 4|hand distal carpal bone 4|uncinate|hamate|hamate bone|unciform http://purl.obolibrary.org/obo/UBERON_0001433 uberon_slim|pheno_slim UBERON:0001432 biolink:AnatomicalEntity distal carpal bone 3 NCIT:C12856|VSAO:0005045|FMA:23727|MA:0001342|OpenCyc:Mx4rvZFPrZwpEbGdrcN5Y29ycA|galen:Capitate|UMLS:C0223733|AAO:0000849|EMAPA:36169 hp.json os magnum (carpus)|distal carpal 3|capitate|os capitatum|os magnum|capitate bone|hand distal carpal bone 3|carpal 3|magnum http://purl.obolibrary.org/obo/UBERON_0001432 pheno_slim|uberon_slim UBERON:0001435 biolink:AnatomicalEntity carpal bone A bone that is part of the carpal skeleton. Examples: scaphoid, lunate, capitate[cjm]. EMAPA:25056|GAID:179|MESH:D002348|NCIT:C12688|galen:CarpalBone|MA:0000296|FMA:23889|UMLS:C0007285 hp.json carpal skeleton bone|carpus bone|bone of carpus|carpal http://purl.obolibrary.org/obo/UBERON_0001435 uberon_slim|pheno_slim UBERON:0001434 biolink:AnatomicalEntity skeletal system Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. EMAPA:35773|MA:0000018|VHOG:0001254|FMA:23881|ZFA:0000434|CALOHA:TS-1320|NCIT:C12788|TAO:0000434|AAO:0000566|OpenCyc:Mx4rvVi1rpwpEbGdrcN5Y29ycA|EHDAA2:0003168|VSAO:0000027|UMLS:C0037253|BTO:0001486|XAO:0003060|EFO:0000806 hp.json skeleton system|set of all bones and joints|Skelettsystem http://purl.obolibrary.org/obo/UBERON_0001434 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0001431 biolink:AnatomicalEntity distal carpal bone 2 VSAO:0005044|EMAPA:36174|UMLS:C0223741|MA:0001341|galen:Trapezoid|FMA:23724|OpenCyc:Mx4rvVvsjpwpEbGdrcN5Y29ycA|OpenCyc:Mx4rvxNWBJwpEbGdrcN5Y29ycA|NCIT:C12859|AAO:0000848 hp.json distal carpal 2|trapezoid|os trapezoideum|lesser multiangular|trapezoid bone|lesser multangular bone|carpal 2|hand distal carpal bone 2|manus distal carpal bone 2|lesser multangular http://purl.obolibrary.org/obo/UBERON_0001431 pheno_slim|uberon_slim UBERON:0001430 biolink:AnatomicalEntity distal carpal bone 1 AAO:0010634|VSAO:0005043|UMLS:C0223736|EMAPA:36173|MA:0001340|OpenCyc:Mx4rv3CbrJwpEbGdrcN5Y29ycA|FMA:23721|NCIT:C12857|galen:Trapezium hp.json trapezial bone|distal carpal 1|os trapezium|carpal 1|greater multangular bone|greater multangular|trapezium|hand distal carpal bone 1|greater multiangular|trapezium bone|manus distal carpal bone 1 http://purl.obolibrary.org/obo/UBERON_0001430 pheno_slim|uberon_slim UBERON:0001419 biolink:AnatomicalEntity skin of limb A zone of skin that is part of a limb [Automatically generated definition]. UMLS:C1282135|FMA:23100|EMAPA:32726|MA:0000694|NCIT:C53276 hp.json limb zone of skin|zone of skin of limb|limb skin http://purl.obolibrary.org/obo/UBERON_0001419 pheno_slim UBERON:0001418 biolink:AnatomicalEntity skin of thorax A zone of skin that is part of a thorax [Automatically generated definition]. FMA:23029|FMA:23028|MA:0000564|SCTID:281723000|EMAPA:37765 hp.json upper body skin|thorax zone of skin|thorax skin|thoracic skin|zone of skin of thorax http://purl.obolibrary.org/obo/UBERON_0001418 HP:0030180 biolink:PhenotypicFeature Oppenheim reflex Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe). UMLS:C1532837|SNOMEDCT_US:414949005 hp.json Oppenheim sign http://purl.obolibrary.org/obo/HP_0030180 HP:0030181 biolink:PhenotypicFeature Gordon reflex Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe). UMLS:C4021048 hp.json Gordon sign http://purl.obolibrary.org/obo/HP_0030181 HP:0030182 biolink:PhenotypicFeature Tetraplegia/tetraparesis Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. UMLS:C4022595 hp.json http://purl.obolibrary.org/obo/HP_0030182 UBERON:0001415 biolink:AnatomicalEntity skin of pelvis A zone of skin that is part of a pelvis [Automatically generated definition]. FMA:22984|MA:0000546|EMAPA:37282|SCTID:181517009 hp.json zone of skin of pelvis|pelvis skin|pelvic skin|pelvis zone of skin http://purl.obolibrary.org/obo/UBERON_0001415 UBERON:0001417 biolink:AnatomicalEntity skin of neck A zone of skin that is part of a neck [Automatically generated definition]. UMLS:C0205030|MA:0000590|EMAPA:37277|NCIT:C52756|FMA:23022|FMA:23021|SCTID:361705004 hp.json neck zone of skin|neck skin|zone of skin of neck (volume)|neck (volume) zone of skin|zone of skin of neck http://purl.obolibrary.org/obo/UBERON_0001417 UBERON:0001416 biolink:AnatomicalEntity skin of abdomen A zone of skin that is part of an abdomen [Automatically generated definition]. NCIT:C52758|MA:0000523|FMA:23000|SCTID:361707007|FMA:22988|EFO:0000214|UMLS:C0222166 hp.json skin of abdomen proper|abdomen skin|zone of skin of abdomen|abdominal skin|abdomen zone of skin http://purl.obolibrary.org/obo/UBERON_0001416 efo_slim|pheno_slim HP:0030187 biolink:PhenotypicFeature Titubation Nodding movement of the head or body. UMLS:C0231690|SNOMEDCT_US:78691002 hp.json http://purl.obolibrary.org/obo/HP_0030187 HP:0030188 biolink:PhenotypicFeature Tremor by anatomical site Tremor classified by the affected body part. UMLS:C4022593 hp.json Tremor of a body part http://purl.obolibrary.org/obo/HP_0030188 HP:0030183 biolink:PhenotypicFeature Impaired visually enhanced vestibulo-ocular reflex The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR). UMLS:C4021047 hp.json Visually enhanced vestibulo-ocular reflex impairment|VVOR impairment http://purl.obolibrary.org/obo/HP_0030183 HP:0030185 biolink:PhenotypicFeature Isometric tremor An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). UMLS:C4022594|UMLS:C4280303 hp.json Dystonia tremor http://purl.obolibrary.org/obo/HP_0030185 HP:0030186 biolink:PhenotypicFeature Kinetic tremor Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. SNOMEDCT_US:30721006|MSH:D014202|SNOMEDCT_US:609558009|MSH:D020329|UMLS:C0270736|UMLS:C0234376 hp.json Essential tremor http://purl.obolibrary.org/obo/HP_0030186 CHEBI:58001 biolink:ChemicalSubstance primary aliphatic ammonium ion The conjugate acid of a primary aliphatic amine. hp.json primary aliphatic ammonium cation|an aliphatic amine|primary aliphatic ammonium ions|primary aliphatic ammonium cations http://purl.obolibrary.org/obo/CHEBI_58001 3_STAR UBERON:0001422 biolink:AnatomicalEntity facial lymphatic vessel A lymphatic vessel that is part of a face [Automatically generated definition]. ZFA:0005108|TAO:0005108|FMA:233946 hp.json buccal lymphatic vessel|face lymph vessel|FL|lymphatic vessel of face|face lymphatic vessel|lymph vessel of face http://purl.obolibrary.org/obo/UBERON_0001422 vertebrate_core UBERON:0001421 biolink:AnatomicalEntity pectoral girdle region An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. galen:ShoulderGirdle|EMAPA:37856|VSAO:0000305|FMA:23217 hp.json cingulum membri superioris|shoulder girdle|upper limb girdle|pectoral region|girdle - pectoral|cingulum membri superioris|pectoral girdle http://purl.obolibrary.org/obo/UBERON_0001421 uberon_slim|vertebrate_core|pheno_slim UBERON:0001424 biolink:AnatomicalEntity ulna The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]. FMA:23466|MA:0001358|VSAO:0005013|EMAPA:19104|AAO:0000789|GAID:188|MESH:D014457|galen:Ulna|OpenCyc:Mx4rwPtIM5wpEbGdrcN5Y29ycA|NCIT:C12809|UMLS:C0041600 hp.json http://purl.obolibrary.org/obo/UBERON_0001424 uberon_slim|pheno_slim UBERON:0001423 biolink:AnatomicalEntity radius bone The major preaxial endochondral bone in the anterior zeugopod[Phenoscape]. galen:Radius|FMA:23463|MA:0001357|NCIT:C12777|VSAO:0005012|CALOHA:TS-2199|AAO:0000788|EMAPA:19103|MESH:D011884|GAID:185|OpenCyc:Mx4rwUsDcZwpEbGdrcN5Y29ycA|UMLS:C0034627 hp.json radius http://purl.obolibrary.org/obo/UBERON_0001423 uberon_slim|pheno_slim HP:0005190 biolink:PhenotypicFeature Proximal finger joint hyperextensibility UMLS:C4025242 hp.json http://purl.obolibrary.org/obo/HP_0005190 HP:0030190 biolink:PhenotypicFeature Oral motor hypotonia Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior. UMLS:C4022592 hp.json http://purl.obolibrary.org/obo/HP_0030190 HP:0030191 biolink:PhenotypicFeature Abnormal peripheral nervous system synaptic transmission An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. UMLS:C4021046 hp.json Abnormal PNS synaptic transmission http://purl.obolibrary.org/obo/HP_0030191 HP:0005191 biolink:PhenotypicFeature Congenital knee dislocation UMLS:C0265669|SNOMEDCT_US:59068006 hp.json Dislocated knee since birth http://purl.obolibrary.org/obo/HP_0005191 HP:0030192 biolink:PhenotypicFeature Fatigable weakness of bulbar muscles A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022591 hp.json http://purl.obolibrary.org/obo/HP_0030192 HP:0005193 biolink:PhenotypicFeature Restricted large joint movement UMLS:C4025241 hp.json http://purl.obolibrary.org/obo/HP_0005193 HP:0030193 biolink:PhenotypicFeature Fatigable weakness of chewing muscles A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022590 hp.json http://purl.obolibrary.org/obo/HP_0030193 HP:0030198 biolink:PhenotypicFeature Fatigable weakness of distal limb muscles A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022585 hp.json http://purl.obolibrary.org/obo/HP_0030198 HP:0030199 biolink:PhenotypicFeature Fatigable weakness of neck muscles A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022584 hp.json http://purl.obolibrary.org/obo/HP_0030199 HP:0030194 biolink:PhenotypicFeature Fatigable weakness of speech muscles A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022589 hp.json http://purl.obolibrary.org/obo/HP_0030194 HP:0030195 biolink:PhenotypicFeature Fatigable weakness of swallowing muscles A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022588 hp.json http://purl.obolibrary.org/obo/HP_0030195 HP:0030196 biolink:PhenotypicFeature Fatigable weakness of respiratory muscles A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022587 hp.json http://purl.obolibrary.org/obo/HP_0030196 HP:0030197 biolink:PhenotypicFeature Fatigable weakness of skeletal muscles A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022586 hp.json http://purl.obolibrary.org/obo/HP_0030197 CHEBI:61697 biolink:ChemicalSubstance fatty acid derivative Any organic molecular entity derived from a fatty acid. hp.json FA derivative|fatty acid derivatives|FA derivatives http://purl.obolibrary.org/obo/CHEBI_61697 3_STAR HP:0005187 biolink:PhenotypicFeature Progressive joint destruction UMLS:C4025243 hp.json http://purl.obolibrary.org/obo/HP_0005187 HP:0005183 biolink:PhenotypicFeature Pericardial lymphangiectasia An abnormal dilatation of lymph vessels in the pericardium. UMLS:C1856140 hp.json http://purl.obolibrary.org/obo/HP_0005183 HP:0005184 biolink:PhenotypicFeature Prolonged QTc interval A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. UMLS:C1560305 hp.json http://purl.obolibrary.org/obo/HP_0005184 HP:0005185 biolink:PhenotypicFeature Global systolic dysfunction A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. UMLS:C1847397 hp.json http://purl.obolibrary.org/obo/HP_0005185 HP:0005186 biolink:PhenotypicFeature Synovial hypertrophy MSH:D013585|UMLS:C0410574|SNOMEDCT_US:240206002 hp.json http://purl.obolibrary.org/obo/HP_0005186 CHEBI:36699 biolink:ChemicalSubstance corticosteroid hormone Any of a class of steroid hormones that are produced in the adrenal cortex. hp.json corticosteroid hormones|adrenal cortex hormones http://purl.obolibrary.org/obo/CHEBI_36699 3_STAR HP:0005198 biolink:PhenotypicFeature Stiff interphalangeal joints Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity. UMLS:C4025237 hp.json Stiff hinge joints http://purl.obolibrary.org/obo/HP_0005198 HP:0005199 biolink:PhenotypicFeature Aplasia of the abdominal wall musculature Absence of the abdominal musculature. UMLS:C3149223 hp.json Absent abdominal musculature http://purl.obolibrary.org/obo/HP_0005199 HP:0005194 biolink:PhenotypicFeature Flattened metatarsal heads Abnormally flat shape of the heads of the metatarsal bones. UMLS:C4025240 hp.json Flattened head of long bone of foot http://purl.obolibrary.org/obo/HP_0005194 HP:0005195 biolink:PhenotypicFeature Polyarticular arthropathy UMLS:C4025239 hp.json http://purl.obolibrary.org/obo/HP_0005195 HP:0005197 biolink:PhenotypicFeature Generalized morning stiffness A sensation of stiffness in the joints that occurs following waking up in the morning. UMLS:C4025238 hp.json Generalised morning stiffness http://purl.obolibrary.org/obo/HP_0005197 CHEBI:24684 biolink:ChemicalSubstance hydroxybutyric acid Any compound comprising a butyric acid core carrying at least one hydroxy substituent. hp.json hydroxybutyric acids|hydroxybutanoic acid|hydroxybutanoic acids http://purl.obolibrary.org/obo/CHEBI_24684 3_STAR UBERON:0001469 biolink:AnatomicalEntity sternoclavicular joint The sternoclavicular articulation is a double arthrodial joint composed of two portions separated by an articular disc. The parts entering into its formation are the sternal end of the clavicle, the upper and lateral part of the manubrium sterni, and the cartilage of the first rib, visible from the outside as the suprasternal notch. The articular surface of the clavicle is much larger than that of the sternum, and is invested with a layer of cartilage, which is considerably thicker than that on the latter bone. The ligaments of this joint are: Articular capsule Anterior sternoclavicular ligament Posterior sternoclavicular ligament Interclavicular ligament Costoclavicular ligament Articular disk [WP,unvetted]. EMAPA:19203|MESH:D013247|OpenCyc:Mx4rwI-ZZpwpEbGdrcN5Y29ycA|GAID:270|MA:0001507|OpenCyc:Mx4rv_eLJZwpEbGdrcN5Y29ycA|NCIT:C33615|FMA:25883|UMLS:C0038291 hp.json sternoclavicular articulation|sterno clavicular joint|articulatio sternoclavicularis|sternoclavicular http://purl.obolibrary.org/obo/UBERON_0001469 uberon_slim UBERON:0013455 biolink:AnatomicalEntity spheno-petrosal fissure The sphenopetrosal fissure (or sphenopetrosal suture) is the cranial suture between the sphenoid bone and the petrous portion of the temporal bone. It is in the middle cranial fossa. FMA:75038 hp.json sphenopetrosal fissure|fissura sphenopetrosa http://purl.obolibrary.org/obo/UBERON_0013455 HP:0032795 biolink:PhenotypicFeature Generalized myoclonic-tonic-clonic seizure A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. hp.json generalised onset myoclonic-tonic-clonic seizure|Generalised onset myoclonic-tonic-clonic seizure|Generalised-onset myoclonic-tonic-clonic seizure|generalized onset myoclonic-tonic-clonic seizure|Generalized-onset myoclonic-tonic-clonic seizure|Generalised myoclonic-tonic-clonic seizure http://purl.obolibrary.org/obo/HP_0032795 HP:0030132 biolink:PhenotypicFeature Absence of large von Willibrand factor multimers Absence of large von Willebrand Factor multimers on gel electrophoresis. UMLS:C4022616 hp.json http://purl.obolibrary.org/obo/HP_0030132 HP:0032794 biolink:PhenotypicFeature Myoclonic seizure A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. hp.json http://purl.obolibrary.org/obo/HP_0032794 HP:0030133 biolink:PhenotypicFeature Abnormal presence of ultra-large von Willebrand factor multimers Detection of abnormal ultra-large von Willebrand factor multimers. UMLS:C4022615 hp.json http://purl.obolibrary.org/obo/HP_0030133 HP:0032797 biolink:PhenotypicFeature Focal aware sensory seizure with olfactory features Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant. hp.json http://purl.obolibrary.org/obo/HP_0032797 HP:0030134 biolink:PhenotypicFeature Total absence von Willebrand factor multimers Complete absence of all von Willebrand factor multimers. UMLS:C4022614 hp.json http://purl.obolibrary.org/obo/HP_0030134 PATO:0001654 biolink:NamedThing misaligned with An alignment quality inhering in a bearer by virtue of the bearer's being in a improper spatial positioning with respect to an additional entity. hp.json misaligned|unaligned with http://purl.obolibrary.org/obo/PATO_0001654 relational_slim|value_slim HP:0032796 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with left-right confusion A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032796 HP:0030135 biolink:PhenotypicFeature Absence of intermediate von Willibrand factor multimers Lack of intermediate von Willebrand Factor multimers on gel electrophoresis. UMLS:C4022613 hp.json http://purl.obolibrary.org/obo/HP_0030135 HP:0032791 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with anomia A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032791 HP:0032790 biolink:PhenotypicFeature Focal impaired awareness behavior arrest seizure A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. hp.json Focal impaired awareness behaviour arrest seizure http://purl.obolibrary.org/obo/HP_0032790 HP:0032793 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032793 HP:0030130 biolink:PhenotypicFeature Impaired von Willibrand factor collagen binding activity Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers. UMLS:C4022618 hp.json http://purl.obolibrary.org/obo/HP_0030130 HP:0032792 biolink:PhenotypicFeature Tonic seizure A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. hp.json http://purl.obolibrary.org/obo/HP_0032792 HP:0030131 biolink:PhenotypicFeature Abnormal von Willebrand factor multimer distribution Deviation from the normal von Willebrand factor multimer pattern. UMLS:C4022617 hp.json http://purl.obolibrary.org/obo/HP_0030131 UBERON:0001471 biolink:AnatomicalEntity skin of prepuce of penis The loose fold of skin that covers the penis. FMA:27648|MA:0001744|VHOG:0001342|EV:0100109 hp.json penis foreskin|preputial skin|foreskin of penis http://purl.obolibrary.org/obo/UBERON_0001471 pheno_slim UBERON:0001470 biolink:AnatomicalEntity glenohumeral joint The glenohumeral joint, commonly known as the shoulder joint, is a multiaxial synovial ball and socket joint and involves articulation between the glenoid fossa of the scapula (shoulder blade) and the head of the humerus (upper arm bone). [WP,unvetted]. FMA:25912|MA:0000459|OpenCyc:Mx4rwP32BZwpEbGdrcN5Y29ycA|VHOG:0001002|GAID:269|NCIT:C33548|UMLS:C0037009|EMAPA:19105|galen:ShoulderJoint|MESH:D012785 hp.json joint of shoulder|articulatio humeri|humeroscapular joint|shoulder joint|humeral joint http://purl.obolibrary.org/obo/UBERON_0001470 uberon_slim PATO:0001651 biolink:NamedThing decreased resistance to A resistance to a stimulus which is relatively low. hp.json low resistance to|decreased resistance http://purl.obolibrary.org/obo/PATO_0001651 disposition_slim|relational_slim|value_slim HP:0032799 biolink:PhenotypicFeature Focal impaired awareness hemiclonic seizure A focal hemiclonic seizure in which awareness is impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032799 HP:0030136 biolink:PhenotypicFeature Enhanced ristocetin cofactor assay activity Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. UMLS:C4022612 hp.json http://purl.obolibrary.org/obo/HP_0030136 PATO:0001652 biolink:NamedThing alignment A spatial quality inhering in a bearer by virtue of the bearer's spatial positioning with respect to an additional entity. hp.json http://purl.obolibrary.org/obo/PATO_0001652 attribute_slim|relational_slim HP:0030137 biolink:PhenotypicFeature Prolonged bleeding following circumcision Bleeding that persists for a longer than usual time following circumcision. UMLS:C4022611 hp.json Prolonged bleeding following circumcision http://purl.obolibrary.org/obo/HP_0030137 HP:0032798 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with neglect A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032798 HP:0030138 biolink:PhenotypicFeature Excessive bleeding from superficial cuts An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. UMLS:C4022610 hp.json Excessive bleeding from superficial cuts http://purl.obolibrary.org/obo/HP_0030138 PATO:0001650 biolink:NamedThing increased resistance to A resistance to a stimulus which is relatively high. hp.json increased resistance|high resistance to http://purl.obolibrary.org/obo/PATO_0001650 disposition_slim|relational_slim|value_slim HP:0030139 biolink:PhenotypicFeature Excessive bleeding after a venipuncture An abnormal high amount of bleeding following the procedure of taking a blood sample. UMLS:C4022609 hp.json http://purl.obolibrary.org/obo/HP_0030139 UBERON:0001476 biolink:AnatomicalEntity deltoid A muscle of shoulder which attaches to the scapula, clavicle and humerus.[FMA,generalized]. EMAPA:18177|VHOG:0000846|MA:0002286|EFO:0001412|FMA:32521|AAO:0010716|EHDAA2:0000339|NCIT:C32446|OpenCyc:Mx4rvVjdc5wpEbGdrcN5Y29ycA|UMLS:C0224234 hp.json common shoulder muscle|musculus deltoideus|deltoid muscle|musculus deltoideus|m. deltoideus|deltoideus|deltoideus muscle http://purl.obolibrary.org/obo/UBERON_0001476 pheno_slim|efo_slim|uberon_slim UBERON:0001479 biolink:AnatomicalEntity sesamoid bone A sesamoid element that is composed of bone tissue. MA:0001375|NCIT:C33541|EHDAA2:0003086|MESH:D012716|FMA:32672|galen:SessamoidBone|EMAPA:36620|AEO:0000086|UMLS:C0036846|GAID:210 hp.json sesamoid|ossa sesamoidea http://purl.obolibrary.org/obo/UBERON_0001479 uberon_slim UBERON:0001473 biolink:AnatomicalEntity lymphatic vessel A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]. MAT:0000443|TAO:0005105|EFO:0000873|BTO:0000752|VHOG:0001249|UMLS:C0229889|EMAPA:35532|OpenCyc:Mx4rwA1fYZwpEbGdrcN5Y29ycA|MESH:D042601|MA:0000138|CALOHA:TS-2102|XAO:0000375|NCIT:C33038|AAO:0011005|FMA:30315 hp.json vas lymphaticum|lymph vessel http://purl.obolibrary.org/obo/UBERON_0001473 pheno_slim|efo_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0001472 biolink:AnatomicalEntity vaginal venous plexus The vaginal plexuses are placed at the sides of the vagina; they communicate with the uterine, vesical, and hemorrhoidal plexuses, and are drained by the vaginal veins, one on either side, into the hypogastric veins. [WP,unvetted]. FMA:29713|MA:0002257|EMAPA:37801 hp.json venous vaginal plexus|plexus venosus vaginalis http://purl.obolibrary.org/obo/UBERON_0001472 uberon_slim UBERON:0001474 biolink:AnatomicalEntity bone element Skeletal element that is composed of bone tissue. NCIT:C12366|SCTID:90780006|MAT:0000299|AAO:0000047|OpenCyc:Mx4rvVkCG5wpEbGdrcN5Y29ycA|Wikipedia:Bone|VHOG:0001190|UMLS:C0262950|EFO:0000298|MIAA:0000299|VSAO:0000057|galen:Bone|EV:0100140|ZFA:0001514|FMA:5018|EMAPA:32782|MA:0001459|OpenCyc:Mx4rvViDlpwpEbGdrcN5Y29ycA|XAO:0000169|BTO:0000140|TAO:0001514|GAID:92|EHDAA2:0003082|CALOHA:TS-0088|FMA:30317|ENVO:00002039|AEO:0000082 hp.json bone organ|bone|bones http://purl.obolibrary.org/obo/UBERON_0001474 pheno_slim|efo_slim|uberon_slim|vertebrate_core|major_organ|organ_slim UBERON:0001459 biolink:AnatomicalEntity skin of external ear A zone of skin that is part of a external ear [Automatically generated definition]. NCIT:C49481|UMLS:C0222110|MA:0001233|FMA:24775|EMAPA:35301 hp.json zone of skin of auricular region|auricular region zone of skin|zone of skin of external ear|external ear skin|zone of skin of auricular region of head|ear skin|zone of skin of outer ear|auricular region of head zone of skin|external ear zone of skin|outer ear zone of skin http://purl.obolibrary.org/obo/UBERON_0001459 pheno_slim UBERON:0001458 biolink:AnatomicalEntity skin of lip A zone of skin that is part of a lip [Automatically generated definition]. UMLS:C0222101|EMAPA:37643|FMA:24764|SCTID:244092005|NCIT:C12291|MA:0001579 hp.json lip zone of skin|lip skin|zone of skin of lip|skin of lips http://purl.obolibrary.org/obo/UBERON_0001458 HP:0030143 biolink:PhenotypicFeature Hyperactive bowel sounds Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines. UMLS:C0232694|SNOMEDCT_US:18101008 hp.json Increased bowel sounds|Borborygmi http://purl.obolibrary.org/obo/HP_0030143 HP:0030144 biolink:PhenotypicFeature Hypoactive bowel sounds An decreased amount of bowel sounds. UMLS:C0232695|SNOMEDCT_US:15280003 hp.json Decreased bowel sounds http://purl.obolibrary.org/obo/HP_0030144 HP:0030145 biolink:PhenotypicFeature Lack of bowel sounds Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope. UMLS:C4022606 hp.json Lack of bowel sounds http://purl.obolibrary.org/obo/HP_0030145 HP:0030146 biolink:PhenotypicFeature Abnormal liver parenchyma morphology A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. UMLS:C4022605 hp.json http://purl.obolibrary.org/obo/HP_0030146 HP:0030140 biolink:PhenotypicFeature Oral cavity bleeding Recurrent or excessive bleeding from the mouth. UMLS:C4022608 hp.json Oral cavity hemorrhage|Oral cavity bleeding|Bleeding from mouth|Oral cavity haemorrhage http://purl.obolibrary.org/obo/HP_0030140 HP:0030141 biolink:PhenotypicFeature Abnormality of the posterior hairline An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. UMLS:C4022607 hp.json Abnormality of hairline at back of head http://purl.obolibrary.org/obo/HP_0030141 PATO:0001669 biolink:NamedThing increased susceptibility toward A susceptibility toward an external stimulus which is higher than normal/average. hp.json increased susceptibility|high susceptibility toward http://purl.obolibrary.org/obo/PATO_0001669 disposition_slim|relational_slim|value_slim CHEBI:131927 biolink:ChemicalSubstance dicarboxylic acids and O-substituted derivatives A class of carbonyl compound encompassing dicarboxylic acids and any derivatives obtained by substitution of either one or both of the carboxy hydrogens. hp.json dicarboxylic acids and derivatives http://purl.obolibrary.org/obo/CHEBI_131927 3_STAR HP:0030142 biolink:PhenotypicFeature Abnormal bowel sounds An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis. SNOMEDCT_US:60612008|UMLS:C0159060 hp.json Abnormal bowel sounds http://purl.obolibrary.org/obo/HP_0030142 UBERON:0001460 biolink:AnatomicalEntity arm The part of the forelimb extending from the shoulder to the autopod[cjm]. VHOG:0000339|BTO:0001435|EFO:0001410|MESH:D001132|EHDAA:6210|EHDAA:4164|EHDAA2:0000140|GAID:52|CALOHA:TS-2204|EHDAA:8275|EMAPA:17413|OpenCyc:Mx4rvVjp5ZwpEbGdrcN5Y29ycA|MA:0000033 hp.json upper extremity|brachium http://purl.obolibrary.org/obo/UBERON_0001460 pheno_slim|efo_slim|uberon_slim HP:0030147 biolink:PhenotypicFeature Truncal titubation Tremor of the trunk in an anterior-posterior plane at 3-4 Hz. UMLS:C2674512 hp.json http://purl.obolibrary.org/obo/HP_0030147 PATO:0001662 biolink:NamedThing fragility A structural quality inhering in a bearer by virtue of the bearer's disposition to being damaged or destroyed. hp.json http://purl.obolibrary.org/obo/PATO_0001662 scalar_slim|disposition_slim|attribute_slim HP:0030148 biolink:PhenotypicFeature Heart murmur An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. MSH:D006337|SNOMEDCT_US:88610006|SNOMEDCT_US:421493004|UMLS:C0018808|SNOMEDCT_US:414786004 hp.json Cardiac murmurs|Cardiac murmur|Heart murmur|Heart murmurs http://purl.obolibrary.org/obo/HP_0030148 HP:0030149 biolink:PhenotypicFeature Cardiogenic shock Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. MSH:D012770|SNOMEDCT_US:89138009|UMLS:C0036980 hp.json Cardiovascular shock http://purl.obolibrary.org/obo/HP_0030149 UBERON:0001466 biolink:AnatomicalEntity pedal digit A digit that is part of a pes (foot). UMLS:C0040357|EMAPA:32649|galen:Toe|XAO:0003035|BTO:0002348|GAID:44|FMA:25046|NCIT:C33788|MA:0000048|AAO:0000888|OpenCyc:Mx4rvVjCHZwpEbGdrcN5Y29ycA hp.json toe|pes digit|hind digit|hind_digit|hindlimb digit|digiti pedis|pedal digit (phalangeal portion) plus soft tissue|digitus pedis|digit of foot|digitipedis|digit of terminal segment of lower limb|digiti pedis|foot digit http://purl.obolibrary.org/obo/UBERON_0001466 pheno_slim|uberon_slim UBERON:0001465 biolink:AnatomicalEntity knee A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod. EHDAA2:0000895|GAID:48|EHDAA:5159|EMAPA:17493|OpenCyc:Mx4rvVjPKZwpEbGdrcN5Y29ycA|VHOG:0000347|FMA:24974|galen:Knee|BTO:0003595|EHDAA:6184|MESH:D007717|MA:0000046|CALOHA:TS-2220 hp.json knee region http://purl.obolibrary.org/obo/UBERON_0001465 pheno_slim|efo_slim|human_reference_atlas|uberon_slim UBERON:0001468 biolink:AnatomicalEntity intervertebral joint The joint between adjacent vertebral bodies. May be composed of the nucleus pulposus, annular ligament, and the anterior and posterior longitudinal ligaments. EMAPA:37622|NCIT:C49577|FMA:25511|MA:0001514|UMLS:C1182940 hp.json vertebral joint|inter-centrum joint|inter-vertebral joint|intervertebral symphysis|joint of vertebral body http://purl.obolibrary.org/obo/UBERON_0001468 UBERON:0001467 biolink:AnatomicalEntity shoulder A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle). EHDAA:6228|NCIT:C25203|MESH:D012782|CALOHA:TS-2229|OpenCyc:Mx4rvViCM5wpEbGdrcN5Y29ycA|UMLS:C0037004|EFO:0003068|FMA:25202|VHOG:0000342|GAID:60|MA:0000038|galen:Shoulder|EHDAA2:0001834|EHDAA:4180|EMAPA:17421 hp.json articulatio humeri|shoulder region http://purl.obolibrary.org/obo/UBERON_0001467 pheno_slim|efo_slim|uberon_slim RO:0017001 biolink:NamedThing utilizes X device utilizes material Y means X and Y are material entities, and X is capable of some process P that has input Y. hp.json utilizes http://purl.obolibrary.org/obo/RO_0017001 UBERON:0001461 biolink:AnatomicalEntity elbow The elbow is the region surrounding the elbow-joint-the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]. FMA:24901|EHDAA:4166|EHDAA:6212|EFO:0003069|galen:Elbow|GAID:54|MESH:D004550|EHDAA2:0000429|EMAPA:17414|VHOG:0000340|OpenCyc:Mx4rvVjjNZwpEbGdrcN5Y29ycA|CALOHA:TS-2222|MA:0000036 hp.json articulatio cubiti|elbow limb segment|elbow region|cubital region http://purl.obolibrary.org/obo/UBERON_0001461 pheno_slim|efo_slim|uberon_slim UBERON:0001464 biolink:AnatomicalEntity hip The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]. MESH:D006615|MA:0000045|EHDAA2:0000783|GAID:47|UMLS:C0019552|BTO:0001457|EHDAA:6178|FMA:24964|VHOG:0000346|EMAPA:17490|NCIT:C64193|EHDAA:5153|EFO:0001929|CALOHA:TS-2226|galen:Hip|OpenCyc:Mx4rvVjhy5wpEbGdrcN5Y29ycA hp.json regio coxae|coxa|hip region http://purl.obolibrary.org/obo/UBERON_0001464 pheno_slim|efo_slim|uberon_slim UBERON:0001463 biolink:AnatomicalEntity manual digit 1 1st (preaxial) digit of the manus[Wikipedia]. UMLS:C0040067|GAID:58|EMAPA:17429|NCIT:C52834|AAO:0010639|MESH:D013933|MA:0000454|FMA:24938|EHDAA2:0000511|OpenCyc:Mx4rvVjVbpwpEbGdrcN5Y29ycA hp.json hand digit 1|thumb|manual digit I|digitus I|digit 1 of fore-paw|first digit of hand|fore limb digit 1|manual digit 1|alula|pollex|fore digit I|hand digit 1|digitus 1|digit 1 of manus|first finger|finger 1|forelimb dewclaw|digitus primus|digitus primus [I] http://purl.obolibrary.org/obo/UBERON_0001463 pheno_slim|uberon_slim CHEBI:24663 biolink:ChemicalSubstance hydroxy-5beta-cholanic acid Any member of the class of 5beta-cholanic acids carrying at least one hydroxy group at unspecified position. hp.json hydroxy-5beta-cholanic acids http://purl.obolibrary.org/obo/CHEBI_24663 3_STAR CHEBI:24662 biolink:ChemicalSubstance hydroxy-amino acid A non-proteinogenic alpha-amino acid bearing one or more hydroxy groups at unspecified positions. hp.json http://purl.obolibrary.org/obo/CHEBI_24662 3_STAR UBERON:0001448 biolink:AnatomicalEntity metatarsal bone The metatarsus or metatarsal bones are a group of five long bones in the pes located between the tarsal bones of the hind- and mid-pes and the phalanges of the toes. Lacking individual names, the metatarsal bones are numbered from the medial side (side of big toe): the first, second, third, fourth, and fifth metatarsal. The metatarsals are analogous to the metacarpal bones of the manus. [WP,unvetted]. MA:0000303|MESH:D008682|galen:Metatarsal|FMA:24492|NCIT:C12752|BTO:0002347|GAID:193|EMAPA:32940|UMLS:C0025584|EMAPA:36159 hp.json ossa metatarsi|metatarsal|ossa metatarsalia http://purl.obolibrary.org/obo/UBERON_0001448 uberon_slim|pheno_slim CHEBI:24669 biolink:ChemicalSubstance hydroxy carboxylic acid Any carboxylic acid with at least one hydroxy group. hp.json hydroxycarboxylic acids|hydroxy carboxylic acids|hydroxycarboxylic acid http://purl.obolibrary.org/obo/CHEBI_24669 3_STAR UBERON:0001447 biolink:AnatomicalEntity tarsal bone A bone that is part of the tarsal skeleton. Examples: calcaneus, talus, centralia. galen:TarsalBone|NCIT:C12796|MA:0000297|FMA:24491|EMAPA:25072|GAID:194|UMLS:C0039316|BTO:0002343|MESH:D013639 hp.json tarsus osseus|bone of ankle|bone of tarsus|hind mesopodium|bony tarsus|bone of tarsal skeleton|ossa tarsalia|ossa tarsi|ankle bone|tarsal http://purl.obolibrary.org/obo/UBERON_0001447 uberon_slim|pheno_slim UBERON:0001449 biolink:AnatomicalEntity phalanx of pes A phalanx that is part of a hindlimb autopod[Automatically generated definition]. FMA:24493|NCIT:C52772|AAO:0000930|ncithesaurus:Phalanx_of_the_Foot|EMAPA:32941|UMLS:C0584876|MA:0000305 hp.json toe phalanx|pedal phalanx|phalanx of toe|digital bone of pes|bone of toe|phalanx of pes|digitus pedis phalanx|phalanx of foot digit|phalanges of hind digit|phalanx of hind digit|foot phalanx|foot digit phalanx|phalanx of digitus pedis|phalanx of digit of foot http://purl.obolibrary.org/obo/UBERON_0001449 pheno_slim HP:0030154 biolink:PhenotypicFeature Gallbladder perforation Rupture of the wall of the gallbladder. SNOMEDCT_US:25345001|UMLS:C0156215 hp.json Gall bladder perforation http://purl.obolibrary.org/obo/HP_0030154 HP:0030155 biolink:PhenotypicFeature Scrotal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum. UMLS:C0236078|SNOMEDCT_US:20502007 hp.json Scrotal pain http://purl.obolibrary.org/obo/HP_0030155 HP:0030156 biolink:PhenotypicFeature Bence Jones Proteinuria The presence of free monoclonal immunoglobulin light chains in the urine. UMLS:C0004968|SNOMEDCT_US:274771005 hp.json http://purl.obolibrary.org/obo/HP_0030156 HP:0030157 biolink:PhenotypicFeature Flank pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank. UMLS:C0016199|MSH:D021501|SNOMEDCT_US:247355005 hp.json Kidney pain|Flank pain http://purl.obolibrary.org/obo/HP_0030157 HP:0030150 biolink:PhenotypicFeature Plasmacytosis An abnormally increased number of plasma cells in tissues, exudates, or blood UMLS:C0549295 hp.json http://purl.obolibrary.org/obo/HP_0030150 CHEBI:83039 biolink:ChemicalSubstance crustacean metabolite An animal metabolite produced by arthropods such as crabs, lobsters, crayfish, shrimps and krill. hp.json crustacean metabolites http://purl.obolibrary.org/obo/CHEBI_83039 3_STAR CHEBI:83038 biolink:ChemicalSubstance Daphnia galeata metabolite A Daphnia metabolite produced by the species Daphnia galeata. hp.json Daphnia galeata metabolites http://purl.obolibrary.org/obo/CHEBI_83038 3_STAR HP:0030151 biolink:PhenotypicFeature Cholangitis Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. UMLS:C0008311|MSH:D002761|SNOMEDCT_US:82403002 hp.json Bile duct inflammation http://purl.obolibrary.org/obo/HP_0030151 HP:0030152 biolink:PhenotypicFeature obsolete Biliary tract neoplasm hp.json http://purl.obolibrary.org/obo/HP_0030152 HP:0030153 biolink:PhenotypicFeature Cholangiocarcinoma Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. UMLS:C0206698|NCIT:C3262|SNOMEDCT_US:70179006|MSH:D018281|SNOMEDCT_US:312104005 hp.json Bile duct cancer http://purl.obolibrary.org/obo/HP_0030153 PATO:0001670 biolink:NamedThing decreased susceptibility toward A susceptibility toward an external stimulus which is lower than normal/average. hp.json low susceptibility toward|decreased susceptibility http://purl.obolibrary.org/obo/PATO_0001670 disposition_slim|relational_slim|value_slim HP:0030158 biolink:PhenotypicFeature Cervical ectropion Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu UMLS:C0269189|SNOMEDCT_US:61253004|MSH:D002579|SNOMEDCT_US:79342006|UMLS:C0007869 hp.json Cervical erosion|Cervical ectopy http://purl.obolibrary.org/obo/HP_0030158 PATO:0001673 biolink:NamedThing cystic Structure quality that is the presence of at least one sac-like closed membranous structure containing one or more liquid or solid organism substances. hp.json cysts http://purl.obolibrary.org/obo/PATO_0001673 value_slim HP:0030159 biolink:PhenotypicFeature Cervical polyp Abnormal growth of tissue projecting from a mucous membrane of the endocervix. SNOMEDCT_US:123841004|MSH:D002583|SNOMEDCT_US:65576009|UMLS:C0007855|UMLS:C0007873 hp.json Cervical tumour|Cervical tumor http://purl.obolibrary.org/obo/HP_0030159 GO:0060612 biolink:BiologicalProcess adipose tissue development The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat. hp.json adipogenesis http://purl.obolibrary.org/obo/GO_0060612 UBERON:0001455 biolink:AnatomicalEntity cuboid bone A tarsal bone that is formed from distal tarsals 4 and 5. [WP,modified]. UMLS:C0376381|EMAPA:36175|MA:0001355|galen:Cuboid|FMA:24527|BTO:0002357|NCIT:C32414 hp.json cuboideum|os tarsale IV et V|cuboid|foot distal tarsal bone 4 and 5|distal tarsal bones 4 and 5|os cuboideum http://purl.obolibrary.org/obo/UBERON_0001455 uberon_slim UBERON:0001454 biolink:AnatomicalEntity distal tarsal bone 3 Endochondral tarsal bone articulating with centralia and metatarsal 3. NCIT:C32554|galen:LateralCuneiform|AAO:0000920|MA:0001354|VSAO:0005054|BTO:0002358|FMA:24520|OpenCyc:Mx4rvoLPu5wpEbGdrcN5Y29ycA|EMAPA:36178|UMLS:C1517036 hp.json distal tarsal 3|os tarsale III|external cuneiform bone of foot|os cuneiforme laterale|cuneiforme 3|lateral cuneiform|lateral cuneiform bone|external cuneiform|third cuneiform bone|distal tarsal 3 bone|3rd cuneiform|os cuneiforme tertium|ossa cuneiforme laterale|os cuneiforme laterale|tarsal 3|ectocuneiforme|foor distal carpal bone 3 http://purl.obolibrary.org/obo/UBERON_0001454 uberon_slim UBERON:0001457 biolink:AnatomicalEntity skin of eyelid A zone of skin that is part of a eyelid [Automatically generated definition]. MA:0001256|EMAPA:37536|NCIT:C52718|UMLS:C0222088|FMA:24760 hp.json blepharon zone of skin|eyelid zone of skin|zone of skin of blepharon|eyelid skin|zone of skin of eyelid http://purl.obolibrary.org/obo/UBERON_0001457 pheno_slim UBERON:0001456 biolink:AnatomicalEntity face A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc). galen:Face|FMA:24728|MA:0002473|SCTID:302549007|BTO:0003369|EMAPA:32763|MESH:D005145|HAO:0000316|UMLS:C0015450|CALOHA:TS-2216|GAID:64|OpenCyc:Mx4rvVi5GZwpEbGdrcN5Y29ycA|Wikipedia:Face|NCIT:C13071 hp.json facia/facies|visage|facia/facies http://purl.obolibrary.org/obo/UBERON_0001456 pheno_slim|uberon_slim UBERON:0001451 biolink:AnatomicalEntity navicular bone of pes The oval-shaped tarsal bone found between the talus and the 3 cuneiform bones. OpenCyc:Mx4rv67esJwpEbGdrcN5Y29ycA|galen:Navicular|EMAPA:36180|BTO:0002356|NCIT:C33162|FMA:24499|MA:0001349|UMLS:C0223947|AAO:0000924 hp.json navicular of foot|centrale (hind)|central tarsal bone|os naviculare|navicular bone of foot|navicular|centrale|os tarsi centrale|os naviculare pedis|os naviculare|navicular of pes http://purl.obolibrary.org/obo/UBERON_0001451 pheno_slim|uberon_slim UBERON:0001450 biolink:AnatomicalEntity calcaneus The postaxial bone of the proximal tarsals series[Phenoscape]. EMAPA:19134|MESH:D002111|NCIT:C32250|BTO:0002355|VSAO:0005016|UMLS:C0006655|MA:0001348|FMA:24496|galen:Calcaneum hp.json calcaneum|heel bone|calcanei|os tarsi fibulare|os calcis|calcaneal bone|fibulare|calcaneus bone http://purl.obolibrary.org/obo/UBERON_0001450 pheno_slim|uberon_slim UBERON:0001453 biolink:AnatomicalEntity distal tarsal bone 2 Endochondral tarsal bone articulating with centralia and metatarsal 2. galen:IntermediateCuneiform|FMA:24519|MA:0001353|VSAO:0005053|BTO:0002359|AAO:0000919|UMLS:C1513292|EMAPA:36177|NCIT:C33116 hp.json foot distal carpal bone 2|mesocuneiforme|intermediate cuneiform|distal tarsal 2|os cuneiforme intermedium|second cuneiform bone|2nd cuneiform|cuneiforme 2|os cuneiforme secundum|distal tarsal 2 bone|middle cuneiform|intermediate cuneiform bone|tarsal 2|os cuneiforme intermedium|os cuneiforme secundum|os tarsale II|second cuneiform bone of foot|middle cuneiform bone of foot|os cuneiforme intermedium http://purl.obolibrary.org/obo/UBERON_0001453 uberon_slim UBERON:0001452 biolink:AnatomicalEntity distal tarsal bone 1 Endochondral tarsal bone articulating with centralia and metatarsal 1. NCIT:C32840|FMA:24518|MA:0001352|VSAO:0005052|AAO:0000918|OpenCyc:Mx4rvYtfH5wpEbGdrcN5Y29ycA|BTO:0002360|galen:MedialCuneiform|UMLS:C1512869|EMAPA:36176 hp.json entocuneiforme|os cuneiforme mediale|distal tarsal 1|first cuneiform|foot distal carpal bone 1|os tarsale I|ossa cuneiforme mediale|cuneiforme 1|distal tarsal 1 bone|first cuneiform bone|1st cuneiform|tarsal 1|os cuneiforme mediale|os cuneiforme mediale|medial cuneiform|os cuneiform primum|os cuneiforme primum|medial cuneiform bone http://purl.obolibrary.org/obo/UBERON_0001452 uberon_slim HP:0030160 biolink:PhenotypicFeature Cervicitis Inflammation of the uterine cervix. UMLS:C0007860|MSH:D002575|SNOMEDCT_US:37610005 hp.json Uterine cervix inflammation|Uterine cervicitis http://purl.obolibrary.org/obo/HP_0030160 UBERON:0001437 biolink:AnatomicalEntity epiphysis The head of a long bone that articulates with a neighboring skeletal element and is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united[MESH,modified]. NCIT:C52722|MESH:D004838|FMA:24012|EMAPA:35508|AAO:0000742|BTO:0000413|MA:0001362|UMLS:C1708734|NCIT:C32529 hp.json long bone epiphysis|bone epiphysis|epiphyses|end of long bone http://purl.obolibrary.org/obo/UBERON_0001437 uberon_slim|pheno_slim UBERON:0001436 biolink:AnatomicalEntity phalanx of manus A phalanx that is part of a forelimb autopod[Automatically generated definition]. EMAPA:32650|AAO:0000947|NCIT:C52771|FMA:23914|UMLS:C0223792|MA:0000306 hp.json phalanx of digitus manus|finger phalanx|phalanx of finger|phalanx of hand|manual phalanx|phalanx of hand digit|digitus manus phalanx|phalanx of fore digit|digital bone of manus|bone of finger|hand phalanx|hand digit phalanx|phalanx of digit of hand|phalanx of manual digit|phalanges of fore digit http://purl.obolibrary.org/obo/UBERON_0001436 pheno_slim UBERON:0001439 biolink:AnatomicalEntity compact bone tissue The outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae. UMLS:C0222661|EMAPA:35250|MA:0001461|galen:CorticalBone|FMA:24018|NCIT:C52714 hp.json substantia compacta (pars ossea)|compact bone tissue|cortical bone tissue|substantia compacta|substantia corticalis|cortical bone|cortical region of bone|compact bone|bony cortex http://purl.obolibrary.org/obo/UBERON_0001439 uberon_slim|pheno_slim UBERON:0001438 biolink:AnatomicalEntity metaphysis Zone of long bone that is between the epiphysis and diaphysis. Subdivision of diaphysis which forms the proximal or distal end of diaphysis next to the epiphysis; together with diaphysis proper, it constitutes the diaphysis. Examples: proximal metaphysis of humerus, distal metaphysis of femur.[FMA]. UMLS:C0222671|NCIT:C52723|FMA:24014|EMAPA:35509|MA:0001363 hp.json diaphyseal end of long bone|metaphyses|long bone metaphysis http://purl.obolibrary.org/obo/UBERON_0001438 uberon_slim|pheno_slim HP:0030165 biolink:PhenotypicFeature Temporal artery tortuosity The presence of an increased number of twists and turns of the temporal artery. UMLS:C4022602 hp.json http://purl.obolibrary.org/obo/HP_0030165 HP:0030166 biolink:PhenotypicFeature Night sweats Occurrence of excessive sweating during sleep. SNOMEDCT_US:42984000|UMLS:C0028081 hp.json Nocturnal hyperhidrosis|Night sweats http://purl.obolibrary.org/obo/HP_0030166 UBERON:0013424 biolink:AnatomicalEntity anatomical point connecting sagittal and lambdoidal sutures The occipital angle is rounded and corresponds with the point of meeting of the sagittal and lambdoidal sutures-a point which is termed the lambda (after the Greek letter of the same name); in the fetus this part of the skull is membranous, and is called the posterior fontanelle. FMA:264773 hp.json lambda|posterior fontanelle http://purl.obolibrary.org/obo/UBERON_0013424 HP:0030167 biolink:PhenotypicFeature Antimitochondrial antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. UMLS:C4021051 hp.json Serum antimitochrondrial antibodies http://purl.obolibrary.org/obo/HP_0030167 HP:0030168 biolink:PhenotypicFeature Dilated superficial abdominal veins Increase in diameter of the veins located underneath the skin of the abdomen. UMLS:C4021050 hp.json Dilatation of the superficial abdominal veins http://purl.obolibrary.org/obo/HP_0030168 HP:0030161 biolink:PhenotypicFeature Vaginal pruritus A sensation of itching in the vagina. UMLS:C0042256|SNOMEDCT_US:34363003 hp.json http://purl.obolibrary.org/obo/HP_0030161 HP:0030162 biolink:PhenotypicFeature Glomerulomegaly Abnormally large size of glomeruli. UMLS:C4022604 hp.json http://purl.obolibrary.org/obo/HP_0030162 HP:0030163 biolink:PhenotypicFeature Abnormal vascular physiology Abnormality of vascular function. UMLS:C4022603 hp.json http://purl.obolibrary.org/obo/HP_0030163 HP:0030164 biolink:PhenotypicFeature Jaw claudication Pain in the jaw or ear induced by chewing or otherwise moving the jaw. SNOMEDCT_US:43922008|UMLS:C0239064 hp.json Jaw pain while chewing http://purl.obolibrary.org/obo/HP_0030164 HP:0030169 biolink:PhenotypicFeature Gastric varix Extreme dilation of the submucusoal veins in the stomach. UMLS:C0017145|MSH:D004932|SNOMEDCT_US:91109007 hp.json Gastric varices http://purl.obolibrary.org/obo/HP_0030169 UBERON:0001444 biolink:AnatomicalEntity subdivision of head XAO:0000040|FMA:24218|SCTID:123852005 hp.json head region|head subdivision|region of head http://purl.obolibrary.org/obo/UBERON_0001444 non_informative UBERON:0001443 biolink:AnatomicalEntity chest Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. GAID:91|NCIT:C12799|UMLS:C1527391|galen:Thorax|EFO:0000965|FMA:9576|NCIT:C25389|MA:0000031|OpenCyc:Mx4rvVikFZwpEbGdrcN5Y29ycA|MESH:D013909|BTO:0001368|EV:0100010|UMLS:C0817096|MAT:0000295|CALOHA:TS-1039|EMAPA:37232|galen:Chest|MIAA:0000295 hp.json thoracic body wall|thorax|front of thorax|anterolateral part of thorax|ventral part of thoracic region|thorax|pectus http://purl.obolibrary.org/obo/UBERON_0001443 pheno_slim|efo_slim|uberon_slim UBERON:0001446 biolink:AnatomicalEntity fibula The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]. MESH:D005360|GAID:202|EFO:0003052|galen:Fibula|UMLS:C0016068|BTO:0002346|EMAPA:19141|MA:0001360|AAO:0000891|NCIT:C12718|FMA:24479|CALOHA:TS-2203 hp.json http://purl.obolibrary.org/obo/UBERON_0001446 pheno_slim|efo_slim|uberon_slim GO:0060605 biolink:BiologicalProcess tube lumen cavitation The formation of a lumen by hollowing out a solid rod or cord. hp.json http://purl.obolibrary.org/obo/GO_0060605 UBERON:0001445 biolink:AnatomicalEntity skeleton of pes Subdivision of skeleton that is the collection of all skeletal elements in a pes, which is the distal section of the posterior hindlimb skeleton consisting of the mesopodium, the metapodium and the acropodium (e.g. including the ankle, sole, and toes)[Phenoscape]. EHDAA2:0002228|VSAO:0005021|FMA:24222 hp.json foot skeleton|posterior autopodium skeleton|pes skeleton|set of bones of foot|foot region skeleton|pes|skeleton of foot|posterior autopodium|pedal skeleton http://purl.obolibrary.org/obo/UBERON_0001445 pheno_slim GO:0060606 biolink:BiologicalProcess tube closure Creation of the central hole of a tube in an anatomical structure by sealing the edges of an epithelial fold. hp.json http://purl.obolibrary.org/obo/GO_0060606 UBERON:0001440 biolink:AnatomicalEntity forelimb skeleton The collection of all skeletal elements in a free forelimb region. Excludes the pectoral girdle. FMA:24142|AAO:0000202|EMAPA:32623|EHDAA2:0002222|XAO:0003061|VHOG:0001256|VSAO:0000151 hp.json forelimb skeleton|set of bones of upper limb|free upper limb skeleton|ossa membri superioris|wing skeleton|skeleton of pectoral limb|bones of upper limb|upper limb skeleton|fore limb skeleton|skeleton of forelimb|skeleton of upper limb|skeleton of free upper limb|pectoral limb skeleton http://purl.obolibrary.org/obo/UBERON_0001440 PR:O35305 biolink:Protein tumor necrosis factor receptor superfamily member 11A (mouse) A tumor necrosis factor receptor superfamily member 11A that is encoded in the genome of mouse. UniProtKB:O35305 hp.json mTNFRSF11A|ODFR (mouse)|osteoclast differentiation factor receptor (mouse)|CD265 (mouse)|Tnfrsf11a|Rank|receptor activator of NF-KB (mouse) http://purl.obolibrary.org/obo/PR_O35305 UBERON:0001442 biolink:AnatomicalEntity skeleton of manus Subdivision of skeleton that is the collection of all skeletal elements in a manus, which is the distal section of the anterior forelimb skeleton consisting of the mesopodium, the metapodium and the acropodium (e.g. including the wrist, palm, and fingers)[Phenoscape]. EHDAA2:0002227|VSAO:0005020|OpenCyc:Mx4rvdHPJJwpEbGdrcN5Y29ycA|EMAPA:32643|FMA:24159 hp.json manus|ossa manus|hand region skeleton|hand skeleton|fore autopod skeleton|set of bones of hand|anterior autopodium skeleton|forelimb autopod skeleton|anterior autopodium|manual skeleton|bones of hand|manus skeleton|skeleton of hand http://purl.obolibrary.org/obo/UBERON_0001442 pheno_slim GO:0060609 biolink:BiologicalProcess apoptotic process involved in tube lumen cavitation Any apoptotic process that contributes to the hollowing out of an epithelial rod or cord to form the central hole in a tube. hp.json apoptosis involved in tube lumen cavitation http://purl.obolibrary.org/obo/GO_0060609 UBERON:0001441 biolink:AnatomicalEntity hindlimb skeleton Subdivision of skeleton consisting of all skeletal elements in an hindlimb region. OpenCyc:Mx4rvZcKkZwpEbGdrcN5Y29ycA|AAO:0000217|EHDAA2:0002226|EMAPA:32633|XAO:0003062|VHOG:0001255|FMA:24144|VSAO:0000152 hp.json hind limb skeleton|set of bones of lower limb|skeleton of lower limb|lower limb skeleton|free lower limb skeleton|bones of lower limb|hind-limb skeleton|hindlimb skeleton|ossa membri inferioris|skeleton of free lower limb http://purl.obolibrary.org/obo/UBERON_0001441 uberon_slim PATO:0001619 biolink:NamedThing decreased tonicity A tonicity which is relatively low. hp.json low tonicity http://purl.obolibrary.org/obo/PATO_0001619 disposition_slim|value_slim PATO:0001617 biolink:NamedThing deformed A morphological quality inhering in a bearer by virtue of the bearer's being distorted in form. hp.json disfigured|distorted http://purl.obolibrary.org/obo/PATO_0001617 value_slim PATO:0001618 biolink:NamedThing increased tonicity A tonicity which is relatively high. hp.json high tonicity http://purl.obolibrary.org/obo/PATO_0001618 disposition_slim|value_slim HP:0032751 biolink:PhenotypicFeature Focal impaired awareness emotional seizure with crying Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032751 HP:0032750 biolink:PhenotypicFeature Focal impaired awareness emotional seizure with laughing Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032750 HP:0032753 biolink:PhenotypicFeature Focal impaired awareness emotional seizure with agitation A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032753 HP:0032752 biolink:PhenotypicFeature Focal impaired awareness emotional seizure with fear/anxiety/panic Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032752 HGNC:8149 biolink:Gene OPLAH (human) A protein coding gene OPLAH in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8149 HP:0032759 biolink:PhenotypicFeature Focal sensory seizure with vestibular features A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation. hp.json Partial vestibular seizure|Vestibular aura|Focal vestibular seizure http://purl.obolibrary.org/obo/HP_0032759 HP:0005129 biolink:PhenotypicFeature Congenital hypertrophy of left ventricle UMLS:C1855901 hp.json http://purl.obolibrary.org/obo/HP_0005129 HP:0032758 biolink:PhenotypicFeature Focal aware myoclonic seizure A type of focal myoclonic seizure during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032758 HP:0032755 biolink:PhenotypicFeature Focal impaired awareness autonomic seizure A focal autonomic seizure characterised by impaired awareness at some point within the seizure. hp.json Focal autonomic seizure with altered responsiveness|Localised autonomic seizure with altered responsiveness|Partial autonomic seizure with altered responsiveness|Localized autonomic seizure with altered responsiveness http://purl.obolibrary.org/obo/HP_0032755 HP:0032754 biolink:PhenotypicFeature Focal aware sensory seizure A focal sensory seizure during which awareness is retained throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032754 HP:0007787 biolink:PhenotypicFeature Posterior subcapsular cataract A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. UMLS:C0858617|SNOMEDCT_US:315353005 hp.json Posterior subcapsular cataracts|Posterior subcapsular opacities of the lens http://purl.obolibrary.org/obo/HP_0007787 HP:0032757 biolink:PhenotypicFeature Focal aware hemiclonic seizure A focal hemiclonic seizure in which awareness is retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032757 HP:0032756 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032756 HP:0005121 biolink:PhenotypicFeature Posterior scalloping of vertebral bodies An excessive concavity of the posterior surface of one or more vertebral bodies. UMLS:C1850196 hp.json Posterior vertebral body scalloping http://purl.obolibrary.org/obo/HP_0005121 HP:0007783 biolink:PhenotypicFeature obsolete Butterfly retinal pigment epithelial dystrophy hp.json http://purl.obolibrary.org/obo/HP_0007783 HP:0007786 biolink:PhenotypicFeature obsolete Lacunar retinal depigmentation hp.json http://purl.obolibrary.org/obo/HP_0007786 GO:0033002 biolink:BiologicalProcess muscle cell proliferation The expansion of a muscle cell population by cell division. hp.json myocyte proliferation http://purl.obolibrary.org/obo/GO_0033002 HP:0007780 biolink:PhenotypicFeature Cortical pulverulent cataract A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. UMLS:C4021568 hp.json Cataracts, cortical pulverulent http://purl.obolibrary.org/obo/HP_0007780 GO:0033001 biolink:CellularComponent Fc-gamma receptor III complex A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG. hp.json immunoglobulin G receptor complex|IgG receptor complex|FcgRIII complex http://purl.obolibrary.org/obo/GO_0033001 HP:0007782 biolink:PhenotypicFeature obsolete Peripheral retinal cone degeneration hp.json http://purl.obolibrary.org/obo/HP_0007782 HP:0005120 biolink:PhenotypicFeature Abnormal cardiac atrium morphology Any structural abnormality of a cardiac atrium. UMLS:C4025246 hp.json Abnormality of cardiac atrium morphology|Abnormality of heart atrium http://purl.obolibrary.org/obo/HP_0005120 PATO:0001628 biolink:NamedThing insufficient A wholeness quality inhering in a bearer by virtue of the bearer's lacks enough functionality. hp.json inadequate http://purl.obolibrary.org/obo/PATO_0001628 value_slim HP:0032762 biolink:PhenotypicFeature Focal autonomic seizure with pallor/flushing A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature. hp.json http://purl.obolibrary.org/obo/HP_0032762 PATO:0001623 biolink:NamedThing atrophied A size quality inhering in a bearer by virtue of a part or parts of the bearer's being decreased in size due to reduction in tissue mass through wasting. hp.json atrophic http://purl.obolibrary.org/obo/PATO_0001623 value_slim|mpath_slim HP:0032761 biolink:PhenotypicFeature Focal aware autonomic seizure with pallor/flushing A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032761 HP:0030100 biolink:PhenotypicFeature Abnormal muscle fiber alpha sarcoglycan Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. UMLS:C4022645 hp.json Abnormal muscle fibre alpha sarcoglycan http://purl.obolibrary.org/obo/HP_0030100 HP:0030101 biolink:PhenotypicFeature Absent muscle fiber alpha sarcoglycan Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy. UMLS:C4022644 hp.json Absent muscle fibre alpha sarcoglycan http://purl.obolibrary.org/obo/HP_0030101 HP:0032764 biolink:PhenotypicFeature Focal autonomic seizure with erection A type of focal autonomic seizure characterised by penile erection as the intial semiological feature. hp.json http://purl.obolibrary.org/obo/HP_0032764 HP:0030102 biolink:PhenotypicFeature Reduced muscle fiber alpha sarcoglycan A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. UMLS:C4022643 hp.json Reduced muscle fibre alpha sarcoglycan http://purl.obolibrary.org/obo/HP_0030102 HP:0032763 biolink:PhenotypicFeature Focal autonomic seizure with pupillary dilation/constriction A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature. hp.json http://purl.obolibrary.org/obo/HP_0032763 PATO:0001626 biolink:NamedThing sufficiency A structural quality inhering in a bearer by virtue of whether the bearer has enough functionality. hp.json adequacy http://purl.obolibrary.org/obo/PATO_0001626 attribute_slim PATO:0001624 biolink:NamedThing decreased functionality A functionality quality held by the bearer when the latter exhibits decreased ability to perform a regular function(s). hp.json low functionality|having decreased function|partial functionality|dysfunction|impaired|dysfunctional|lacks function of type http://purl.obolibrary.org/obo/PATO_0001624 disposition_slim|value_slim HP:0032760 biolink:PhenotypicFeature Focal sensory seizure with hot-cold sensations A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032760 PATO:0001625 biolink:NamedThing increased functionality A functional quality held by the bearer when the latter exhibits increased ability to perform a regular function(s). hp.json high functionality http://purl.obolibrary.org/obo/PATO_0001625 disposition_slim|value_slim HP:0030107 biolink:PhenotypicFeature Reduced muscle fiber beta sarcoglycan Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy. UMLS:C4022638 hp.json Reduced muscle fibre beta sarcoglycan http://purl.obolibrary.org/obo/HP_0030107 HP:0030108 biolink:PhenotypicFeature Reduced muscle fiber gamma sarcoglycan Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy. UMLS:C4022637 hp.json Reduced muscle fibre gamma sarcoglycan http://purl.obolibrary.org/obo/HP_0030108 HP:0032769 biolink:PhenotypicFeature Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032769 HP:0030109 biolink:PhenotypicFeature Absent muscle fiber gamma sarcoglycan Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. UMLS:C4022636 hp.json Absent muscle fibre gamma sarcoglycan http://purl.obolibrary.org/obo/HP_0030109 HP:0030103 biolink:PhenotypicFeature Abnormal muscle fiber beta sarcoglycan Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. UMLS:C4022642 hp.json Abnormal muscle fibre beta sarcoglycan http://purl.obolibrary.org/obo/HP_0030103 HP:0007799 biolink:PhenotypicFeature Conjunctival whitish salt-like deposits The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. UMLS:C1968901 hp.json http://purl.obolibrary.org/obo/HP_0007799 HP:0005136 biolink:PhenotypicFeature Mitral annular calcification Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus. UMLS:C1835130 hp.json Premature calcification of mitral annulus http://purl.obolibrary.org/obo/HP_0005136 HP:0032766 biolink:PhenotypicFeature Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature. hp.json http://purl.obolibrary.org/obo/HP_0032766 HP:0030104 biolink:PhenotypicFeature Abnormal muscle fiber gamma sarcoglycan Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. UMLS:C4022641 hp.json Abnormal muscle fibre gamma sarcoglycan http://purl.obolibrary.org/obo/HP_0030104 HP:0007798 biolink:PhenotypicFeature obsolete Foveal dystrophy hp.json http://purl.obolibrary.org/obo/HP_0007798 HP:0032765 biolink:PhenotypicFeature Focal autonomic seizure with urge to urinate/defecate A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature. hp.json http://purl.obolibrary.org/obo/HP_0032765 HP:0030105 biolink:PhenotypicFeature Abnormal muscle fiber delta sarcoglycan Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. UMLS:C4022640 hp.json Abnormal muscle fibre delta sarcoglycan http://purl.obolibrary.org/obo/HP_0030105 HP:0032768 biolink:PhenotypicFeature Focal aware autonomic seizure with pupillary dilation/constriction A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032768 HP:0030106 biolink:PhenotypicFeature Absent muscle fiber beta sarcoglycan Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. UMLS:C4022639 hp.json Absent muscle fibre beta sarcoglycan http://purl.obolibrary.org/obo/HP_0030106 HP:0032767 biolink:PhenotypicFeature Focal autonomic seizure with piloerection A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature. hp.json http://purl.obolibrary.org/obo/HP_0032767 HP:0005132 biolink:PhenotypicFeature Pericardial constriction Compression of the heart caused by rigid, thickened, or fused pericardial membranes. UMLS:C0240709 hp.json http://purl.obolibrary.org/obo/HP_0005132 HP:0007795 biolink:PhenotypicFeature Anterior cortical cataract A cataract that affects the anterior part of the cortex of the lens. UMLS:C1857308 hp.json http://purl.obolibrary.org/obo/HP_0007795 HP:0005133 biolink:PhenotypicFeature Right ventricular dilatation Enlargement of the chamber of the right ventricle. UMLS:C0344893|Fyler:2333|Fyler:1827|SNOMEDCT_US:253522006 hp.json Dilated heart right ventricle http://purl.obolibrary.org/obo/HP_0005133 HP:0005134 biolink:PhenotypicFeature Absence of the pulmonary valve Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. SNOMEDCT_US:6996004|UMLS:C0265831 hp.json Absent pulmonary valve http://purl.obolibrary.org/obo/HP_0005134 HP:0007797 biolink:PhenotypicFeature Retinal vascular malformation UMLS:C1861791 hp.json http://purl.obolibrary.org/obo/HP_0007797 HP:0005135 biolink:PhenotypicFeature Abnormal T-wave An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. UMLS:C4025245 hp.json T-wave abnormalities|EKG: T-wave abnormalities http://purl.obolibrary.org/obo/HP_0005135 HP:0007791 biolink:PhenotypicFeature Patchy atrophy of the retinal pigment epithelium Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas. UMLS:C4024800 hp.json http://purl.obolibrary.org/obo/HP_0007791 HP:0007793 biolink:PhenotypicFeature Granular macular appearance Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea. UMLS:C4024799 hp.json Macular retinal pigment epithelial mottling http://purl.obolibrary.org/obo/HP_0007793 HP:0005130 biolink:PhenotypicFeature obsolete Restrictive heart failure hp.json http://purl.obolibrary.org/obo/HP_0005130 HP:0007792 biolink:PhenotypicFeature Microsaccadic pursuit UMLS:C1843892 hp.json http://purl.obolibrary.org/obo/HP_0007792 HP:0030110 biolink:PhenotypicFeature Absent muscle fiber delta sarcoglycan Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. UMLS:C4022635 hp.json Absent muscle fibre delta sarcoglycan http://purl.obolibrary.org/obo/HP_0030110 HP:0032773 biolink:PhenotypicFeature Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature. hp.json http://purl.obolibrary.org/obo/HP_0032773 HP:0030111 biolink:PhenotypicFeature Reduced muscle fiber delta sarcoglycan Abnormally reduced amount of delta sarcoglycan in muscle. UMLS:C4022634 hp.json Reduced muscle fibre delta sarcoglycan http://purl.obolibrary.org/obo/HP_0030111 HP:0032772 biolink:PhenotypicFeature Focal impaired awareness autonomic seizure with piloerection A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032772 HP:0030112 biolink:PhenotypicFeature Abnormal muscle fiber alpha dystroglycan A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. UMLS:C4022633 hp.json Abnormal muscle fibre alpha dystroglycan http://purl.obolibrary.org/obo/HP_0030112 HP:0032775 biolink:PhenotypicFeature Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032775 HP:0030113 biolink:PhenotypicFeature Abnormal muscle fiber dysferlin A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing. UMLS:C4022632 hp.json Abnormal muscle fibre dysferlin http://purl.obolibrary.org/obo/HP_0030113 HP:0032774 biolink:PhenotypicFeature Focal impaired awareness autonomic seizure with urge to urinate/defecate A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032774 HP:0032771 biolink:PhenotypicFeature Focal autonomic seizure with lacrimation A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature. hp.json http://purl.obolibrary.org/obo/HP_0032771 HP:0032770 biolink:PhenotypicFeature Focal aware autonomic seizure with erection A focal autonomic seizure with erection characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032770 HP:0005107 biolink:PhenotypicFeature Abnormal sacrum morphology An abnormality of the sacral bone. UMLS:C4025250 hp.json Abnormality of the sacrum http://purl.obolibrary.org/obo/HP_0005107 hposlim_core HP:0030118 biolink:PhenotypicFeature Reduced muscle fiber emerin Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. UMLS:C4022627 hp.json Reduced muscle fibre emerin http://purl.obolibrary.org/obo/HP_0030118 HP:0005108 biolink:PhenotypicFeature Abnormal intervertebral disk morphology Any structural abnormality of the intervertebral disk. UMLS:C4025249 hp.json Abnormality of the intervertebral disk|Abnormality of the intervertebral disc http://purl.obolibrary.org/obo/HP_0005108 hposlim_core HP:0007769 biolink:PhenotypicFeature Peripheral retinal degeneration UMLS:C1320640|SNOMEDCT_US:405721006|SNOMEDCT_US:61536007 hp.json http://purl.obolibrary.org/obo/HP_0007769 HP:0030119 biolink:PhenotypicFeature Abnormal muscle fiber calpain-3 A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates. UMLS:C4022626 hp.json Abnormal muscle fibre calpain-3 http://purl.obolibrary.org/obo/HP_0030119 HP:0005109 biolink:PhenotypicFeature Abnormality of the Achilles tendon An abnormality of the Achilles tendon. UMLS:C4021642 hp.json Abnormality of the Achilles tendon|Abnormality of the calcaneal tendon http://purl.obolibrary.org/obo/HP_0005109 HP:0005103 biolink:PhenotypicFeature Calcification of the auricular cartilage Ossification affecting the external ear cartilage. UMLS:C1408806 hp.json Petrified ear|Cartilaginous ossification of pinnae|Ear cartilage calcification|Ossification of pinnae http://purl.obolibrary.org/obo/HP_0005103 HP:0030114 biolink:PhenotypicFeature Absent muscle fiber dysferlin Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. UMLS:C4022631 hp.json Absent muscle fibre dysferlin http://purl.obolibrary.org/obo/HP_0030114 HP:0007766 biolink:PhenotypicFeature Optic disc hypoplasia Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. SNOMEDCT_US:373650004|UMLS:C1298695 hp.json Hypoplastic optic discs|Hypoplastic optic disks http://purl.obolibrary.org/obo/HP_0007766 HP:0032777 biolink:PhenotypicFeature Focal impaired awareness autonomic seizure with pallor/flushing A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032777 HP:0005104 biolink:PhenotypicFeature Hypoplastic nasal septum Underdevelopment of the nasal septum. UMLS:C1861328 hp.json Decreased size of nasal septum|Small septum of nose|Decreased size of septum of nose|Hypoplasia of septum of nose|Small nasal septum http://purl.obolibrary.org/obo/HP_0005104 HP:0007765 biolink:PhenotypicFeature Deep anterior chamber Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. UMLS:C0423280|SNOMEDCT_US:246991003 hp.json http://purl.obolibrary.org/obo/HP_0007765 HP:0032776 biolink:PhenotypicFeature Focal aware autonomic seizure with lacrimation hp.json http://purl.obolibrary.org/obo/HP_0032776 HP:0030115 biolink:PhenotypicFeature Reduced muscle fiber dysferlin Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy. UMLS:C4022630 hp.json Reduced muscle fibre dysferlin http://purl.obolibrary.org/obo/HP_0030115 GO:0035645 biolink:BiologicalProcess enteric smooth muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell of the intestine. hp.json intestinal smooth muscle cell differentiation http://purl.obolibrary.org/obo/GO_0035645 HP:0032779 biolink:PhenotypicFeature Focal impaired awareness autonomic seizure with pupillary dilation/constriction A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032779 HP:0030116 biolink:PhenotypicFeature Abnormal muscle fiber emerin A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue. UMLS:C4022629 hp.json Abnormal muscle fibre emerin http://purl.obolibrary.org/obo/HP_0030116 HP:0007768 biolink:PhenotypicFeature Central retinal vessel vascular tortuosity The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). UMLS:C4021569 hp.json Tortuosity of main retinal vessels http://purl.obolibrary.org/obo/HP_0007768 HP:0005105 biolink:PhenotypicFeature Abnormal nasal morphology UMLS:C4025252|Fyler:4870 hp.json Abnormal nose morphology|Abnormal of shape of nose|Abnormal of nasal shape|Abnormal of morphology of nose http://purl.obolibrary.org/obo/HP_0005105 HP:0030117 biolink:PhenotypicFeature Absent muscle fiber emerin Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. UMLS:C4022628 hp.json Absent muscle fibre emerin http://purl.obolibrary.org/obo/HP_0030117 HP:0005106 biolink:PhenotypicFeature Abnormality of the vertebral endplates Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. UMLS:C4025251 hp.json http://purl.obolibrary.org/obo/HP_0005106 HP:0032778 biolink:PhenotypicFeature Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032778 HP:0005100 biolink:PhenotypicFeature Premature birth following premature rupture of fetal membranes UMLS:C1851833 hp.json Premature birth following premature rupture of foetal membranes http://purl.obolibrary.org/obo/HP_0005100 HP:0007761 biolink:PhenotypicFeature Pericentral scotoma A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. SNOMEDCT_US:404650002|UMLS:C1321308 hp.json http://purl.obolibrary.org/obo/HP_0007761 HP:0005101 biolink:PhenotypicFeature High-frequency hearing impairment A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). SNOMEDCT_US:232326009|SNOMEDCT_US:48758008|UMLS:C0018780|MSH:D006316 hp.json High-frequency deafness|Hearing loss, high-frequency|Progressive high-frequency hearing loss|High frequency hearing loss|Progressive high frequency hearing loss http://purl.obolibrary.org/obo/HP_0005101 HP:0007763 biolink:PhenotypicFeature Retinal telangiectasia Dilatation of small blood vessels of the retina. UMLS:C0154835|SNOMEDCT_US:84884003 hp.json http://purl.obolibrary.org/obo/HP_0007763 hposlim_core HP:0005102 biolink:PhenotypicFeature Cochlear degeneration Deterioration or loss of the tissues of the cochlea. UMLS:C1849095 hp.json Progressive cochlear degeneration http://purl.obolibrary.org/obo/HP_0005102 HP:0007760 biolink:PhenotypicFeature Crystalline corneal dystrophy MSH:C535475|SNOMEDCT_US:39662004|SNOMEDCT_US:419395007|UMLS:C0271287 hp.json http://purl.obolibrary.org/obo/HP_0007760 HP:0030121 biolink:PhenotypicFeature Reduced muscle fiber calpain-3 Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue. UMLS:C4022624 hp.json Reduced muscle fibre calpain-3 http://purl.obolibrary.org/obo/HP_0030121 HP:0032784 biolink:PhenotypicFeature Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032784 HP:0032783 biolink:PhenotypicFeature Focal aware autonomic seizure with piloerection A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032783 GO:0035637 biolink:BiologicalProcess multicellular organismal signaling The transfer of information occurring at the level of a multicellular organism. hp.json multicellular organismal signalling http://purl.obolibrary.org/obo/GO_0035637 PATO:0001645 biolink:NamedThing protruding into A quality inhering into a bearer by virtue of the bearer's extending out above or beyond its surface or boundary into the surface or boundary of another entity. hp.json http://purl.obolibrary.org/obo/PATO_0001645 relational_slim|value_slim HP:0030122 biolink:PhenotypicFeature Reduced muscle fiber perlecan Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2). UMLS:C4022623 hp.json Reduced muscle fibre perlecan http://purl.obolibrary.org/obo/HP_0030122 HP:0032786 biolink:PhenotypicFeature Migrating focal seizure A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations. hp.json Migrating partial seizure http://purl.obolibrary.org/obo/HP_0032786 HP:0030123 biolink:PhenotypicFeature Abnormal muscle fiber lamin A/C A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. UMLS:C4022622 hp.json Abnormal muscle fibre lamin A/C http://purl.obolibrary.org/obo/HP_0030123 HP:0030124 biolink:PhenotypicFeature Reduced muscle fiber lamin A/C A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue. UMLS:C4022621 hp.json Reduced muscle fibre lamin A/C http://purl.obolibrary.org/obo/HP_0030124 HP:0032785 biolink:PhenotypicFeature Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032785 HP:0032780 biolink:PhenotypicFeature Focal impaired awareness autonomic seizure with erection A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032780 PATO:0001648 biolink:NamedThing circumference An 1-D extent quality which is equal to the length of the closed curve of a circle. hp.json http://purl.obolibrary.org/obo/PATO_0001648 scalar_slim|attribute_slim PATO:0001649 biolink:NamedThing curved lateral A curvature quality inhering in a bearer by virtue of the bearer's being curved towards the side. hp.json http://purl.obolibrary.org/obo/PATO_0001649 value_slim HP:0032782 biolink:PhenotypicFeature Focal impaired awareness autonomic seizure with lacrimation A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032782 PATO:0001646 biolink:NamedThing protruding out of A quality inhering into a bearer by virtue of the bearer's extending out above or beyond its surface or boundary and outwards in relation to the physical space occupied by another entity. hp.json exposed|extruding from|exits through http://purl.obolibrary.org/obo/PATO_0001646 relational_slim|value_slim HP:0032781 biolink:PhenotypicFeature Focal aware autonomic seizure with urge to urinate/defecate A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032781 HP:0030120 biolink:PhenotypicFeature Absent muscle fiber calpain-3 Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. UMLS:C4022625 hp.json Absent muscle fibre calpain-3 http://purl.obolibrary.org/obo/HP_0030120 HP:0030129 biolink:PhenotypicFeature Impaired ristocetin cofactor assay activity Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma. UMLS:C4022619 hp.json http://purl.obolibrary.org/obo/HP_0030129 GO:0035630 biolink:BiologicalProcess bone mineralization involved in bone maturation The deposition of hydroxyapatite, involved in the progression of the skeleton from its formation to its mature state. hp.json http://purl.obolibrary.org/obo/GO_0035630 HP:0032788 biolink:PhenotypicFeature Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032788 HP:0007777 biolink:PhenotypicFeature Chorioretinal scar Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye. UMLS:C0008512|SNOMEDCT_US:53854005 hp.json http://purl.obolibrary.org/obo/HP_0007777 HP:0030125 biolink:PhenotypicFeature Sacralization of the fifth lumbar vertebra A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both. UMLS:C4021052 hp.json L5 sacralization http://purl.obolibrary.org/obo/HP_0030125 HP:0005114 biolink:PhenotypicFeature obsolete Abnormalities of the peripheral arteries hp.json http://purl.obolibrary.org/obo/HP_0005114 HP:0007776 biolink:PhenotypicFeature Sparse lower eyelashes UMLS:C1835148 hp.json Hypotrichosis of lower eyelashes|Thin lower eyelashes|Partial absence of lower eyelashes|Scanty lower eyelashes|Sparse lower eyelashes http://purl.obolibrary.org/obo/HP_0007776 HP:0005115 biolink:PhenotypicFeature Supraventricular arrhythmia A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. SNOMEDCT_US:72654001|UMLS:C0428974 hp.json Supraventricular arrhythmias http://purl.obolibrary.org/obo/HP_0005115 HP:0030126 biolink:PhenotypicFeature Abnormal endometrium morphology An anomaly of the inner mucous membrane of the uterus. UMLS:C4022620 hp.json Abnormality of the endometrium http://purl.obolibrary.org/obo/HP_0030126 HP:0032787 biolink:PhenotypicFeature Focal impaired awareness sensory seizure A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032787 HP:0030127 biolink:PhenotypicFeature Endometriosis The growth of endometrial tissue outside the uterus. SNOMEDCT_US:129103003|SNOMEDCT_US:396224008|UMLS:C0014175|MSH:D004715 hp.json http://purl.obolibrary.org/obo/HP_0030127 HP:0005116 biolink:PhenotypicFeature Arterial tortuosity Abnormal tortuous (i.e., twisted) form of arteries. UMLS:C3279191 hp.json http://purl.obolibrary.org/obo/HP_0005116 HP:0007779 biolink:PhenotypicFeature Anterior segment of eye aplasia UMLS:C1853234 hp.json http://purl.obolibrary.org/obo/HP_0007779 HP:0005117 biolink:PhenotypicFeature Elevated diastolic blood pressure Abnormal increase in diastolic blood pressure. UMLS:C1840375 hp.json Elevated diastolic BP http://purl.obolibrary.org/obo/HP_0005117 HP:0032789 biolink:PhenotypicFeature Focal aware behavior arrest seizure A focal behavior arrest seizure characterised by retained awareness throughout the seizure. hp.json Focal aware behaviour arrest seizure http://purl.obolibrary.org/obo/HP_0032789 HP:0007778 biolink:PhenotypicFeature Posterior retinal neovascularization A type of retinal neovascularization that affects the posterior pole of the retina. UMLS:C4024803 hp.json Neovascularization of peripheral and posterior retina|Posterior retinal neovascularisation http://purl.obolibrary.org/obo/HP_0007778 HP:0005110 biolink:PhenotypicFeature Atrial fibrillation An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. UMLS:C0004238|SNOMEDCT_US:49436004|MSH:D001281 hp.json Quivering upper heart chambers resulting in irregular heartbeat http://purl.obolibrary.org/obo/HP_0005110 HP:0007773 biolink:PhenotypicFeature Vitreoretinopathy Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. UMLS:C1850109 hp.json Vitreoretinal abnormality|Vitreoretinal degeneration http://purl.obolibrary.org/obo/HP_0007773 HP:0007772 biolink:PhenotypicFeature Impaired smooth pursuit An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. UMLS:C1837458|UMLS:C1848530 hp.json Abnormality of visual tracking|Abnormal visual pursuit|Impairment of visual pursuit http://purl.obolibrary.org/obo/HP_0007772 hposlim_core HP:0005111 biolink:PhenotypicFeature obsolete Dilatation of the ascending aorta hp.json http://purl.obolibrary.org/obo/HP_0005111 HP:0005112 biolink:PhenotypicFeature Abdominal aortic aneurysm An abnormal localized widening (dilatation) of the abdominal aorta. UMLS:C4025248 hp.json Dilatation of the abdominal aorta http://purl.obolibrary.org/obo/HP_0005112 HP:0005113 biolink:PhenotypicFeature Aortic arch aneurysm An abnormal localized widening (dilatation) of the aortic arch. Fyler:2706|UMLS:C1851119 hp.json Dilatation of the aortic arch|Aortic arch dilatation http://purl.obolibrary.org/obo/HP_0005113 HP:0007774 biolink:PhenotypicFeature Hypoplasia of the ciliary body Underdevelopment of the ciliary body. UMLS:C1836890 hp.json http://purl.obolibrary.org/obo/HP_0007774 HP:0007770 biolink:PhenotypicFeature Hypoplasia of the retina UMLS:C1854685 hp.json Retinal hypoplasia|Underdeveloped retina http://purl.obolibrary.org/obo/HP_0007770 HP:0005170 biolink:PhenotypicFeature Complete heart block with broad QRS complexes A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex. UMLS:C1861987 hp.json http://purl.obolibrary.org/obo/HP_0005170 HP:0032715 biolink:PhenotypicFeature Focal bilateral motor seizure A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset. hp.json http://purl.obolibrary.org/obo/HP_0032715 HP:0032714 biolink:PhenotypicFeature Focal impaired awareness bilateral motor seizure A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032714 HP:0032717 biolink:PhenotypicFeature Focal impaired awareness motor seizure with dystonia A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure. hp.json Focal motor impaired awareness seizure with dystonia http://purl.obolibrary.org/obo/HP_0032717 HP:0032716 biolink:PhenotypicFeature Focal impaired awareness non-motor seizure A focal non-motor seizure characterized by impaired awareness at some point during the seizure. hp.json Focal non-motor impaired awareness seizure http://purl.obolibrary.org/obo/HP_0032716 HP:0032711 biolink:PhenotypicFeature Focal aware clonic seizure A type of focal clonic seizure during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032711 HP:0032710 biolink:PhenotypicFeature Focal aware cognitive seizure with receptive dysphasia/aphasia A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032710 HP:0032713 biolink:PhenotypicFeature Focal impaired awareness motor seizure with version A focal motor seizure with version characterized by impaired awareness at some point during the seizure. hp.json Focal motor impaired awareness seizure with version http://purl.obolibrary.org/obo/HP_0032713 HP:0032712 biolink:PhenotypicFeature Focal impaired awareness motor seizure A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure. hp.json Focal motor impaired awareness seizure http://purl.obolibrary.org/obo/HP_0032712 HP:0005165 biolink:PhenotypicFeature Shortened PR interval Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. UMLS:C0520878|SNOMEDCT_US:49578007 hp.json Electrocardiographic short PR interval|Short P-R interval|Shortened PR interval on EKG http://purl.obolibrary.org/obo/HP_0005165 HP:0005168 biolink:PhenotypicFeature Elevated right atrial pressure An abnormal increase in magnitude of the pressure in the right atrium. UMLS:C1867421 hp.json http://purl.obolibrary.org/obo/HP_0005168 HP:0032719 biolink:PhenotypicFeature Focal impaired awareness motor seizure with dysarthria/anarthria A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure. hp.json Focal motor impaired awareness seizure with dysarthria/anarthria http://purl.obolibrary.org/obo/HP_0032719 HP:0032718 biolink:PhenotypicFeature Focal motor seizure with dystonia A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. hp.json http://purl.obolibrary.org/obo/HP_0032718 HP:0005162 biolink:PhenotypicFeature Abnormal left ventricular function Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. SNOMEDCT_US:85232009|UMLS:C0023212|MSH:D006333|UMLS:C0553982|SNOMEDCT_US:275514001 hp.json Left ventricular failure|Impaired left ventricular function|Left ventricular dysfunction|Left-sided heart failure|Left ventricular impairment http://purl.obolibrary.org/obo/HP_0005162 HP:0005164 biolink:PhenotypicFeature Dysplastic pulmonary valve A congenital malformation of the pulmonary valve characterized by leaflet deformation. UMLS:C1866206 hp.json Pulmonary valve dysplasia|Dysplasia of pulmonary valve http://purl.obolibrary.org/obo/HP_0005164 HP:0005180 biolink:PhenotypicFeature Tricuspid regurgitation Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. MSH:D014262|UMLS:C0040961|SNOMEDCT_US:111287006|Fyler:1161 hp.json Tricuspid insufficiency|Tricuspid valve regurgitation http://purl.obolibrary.org/obo/HP_0005180 HP:0005181 biolink:PhenotypicFeature Premature coronary artery atherosclerosis Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. UMLS:C1867743 hp.json Premature coronary artery disease http://purl.obolibrary.org/obo/HP_0005181 HP:0005182 biolink:PhenotypicFeature Bicuspid pulmonary valve The presence of a bicuspid pulmonary valve. UMLS:C0344987|Fyler:1601|SNOMEDCT_US:253599005 hp.json http://purl.obolibrary.org/obo/HP_0005182 GO:0008017 biolink:MolecularActivity microtubule binding Binding to a microtubule, a filament composed of tubulin monomers. Reactome:R-HSA-9614343 hp.json microtubule/chromatin interaction|microtubule severing activity http://purl.obolibrary.org/obo/GO_0008017 GO:0008016 biolink:BiologicalProcess regulation of heart contraction Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. hp.json regulation of cardiac contraction http://purl.obolibrary.org/obo/GO_0008016 GO:0008015 biolink:BiologicalProcess blood circulation The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. hp.json hemolymph circulation http://purl.obolibrary.org/obo/GO_0008015 goslim_pir HP:0032720 biolink:PhenotypicFeature Focal motor seizure with dysarthria/anarthria A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible. hp.json http://purl.obolibrary.org/obo/HP_0032720 HP:0032726 biolink:PhenotypicFeature Focal impaired awareness hyperkinetic seizure A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032726 HP:0032725 biolink:PhenotypicFeature Focal impaired awareness clonic seizure A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032725 HP:0032728 biolink:PhenotypicFeature Focal impaired awareness atonic seizure A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032728 HP:0032727 biolink:PhenotypicFeature Focal emotional seizure with agitation Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. hp.json http://purl.obolibrary.org/obo/HP_0032727 HP:0032722 biolink:PhenotypicFeature Focal aware tonic seizure A type of focal tonic seizure during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032722 HP:0032721 biolink:PhenotypicFeature Focal motor seizure with paresis/paralysis A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032721 HP:0032724 biolink:PhenotypicFeature Focal impaired awareness tonic seizure A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032724 HP:0032723 biolink:PhenotypicFeature Focal aware motor seizure with dystonia A focal motor seizure with dystonia characterized by retained awareness throughout the seizure. hp.json Focal motor aware seizure with dystonia http://purl.obolibrary.org/obo/HP_0032723 HP:0005176 biolink:PhenotypicFeature Dysplastic aortic valve A congenital malformation of the aortic valve characterized by leaflet deformation. UMLS:C1866207 hp.json http://purl.obolibrary.org/obo/HP_0005176 HP:0005177 biolink:PhenotypicFeature Premature arteriosclerosis Arteriosclerosis occurring at an age that is younger than usual. UMLS:C1848486|UMLS:C4280503 hp.json Premature hardening of arteries http://purl.obolibrary.org/obo/HP_0005177 HP:0005178 biolink:PhenotypicFeature Complete heart block with narrow QRS complexes A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex. UMLS:C1841661 hp.json http://purl.obolibrary.org/obo/HP_0005178 HP:0005172 biolink:PhenotypicFeature Left posterior fascicular block Conduction block in the posterior division of the left bundle branch of the bundle of His. SNOMEDCT_US:62026008|UMLS:C0264913 hp.json Left posterior hemiblock http://purl.obolibrary.org/obo/HP_0005172 HP:0005173 biolink:PhenotypicFeature obsolete Calcific aortic valve stenosis hp.json http://purl.obolibrary.org/obo/HP_0005173 HP:0032729 biolink:PhenotypicFeature Focal emotional seizure with pleasure Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy. hp.json http://purl.obolibrary.org/obo/HP_0032729 CHEBI:58048 biolink:ChemicalSubstance L-asparagine zwitterion Zwitterionic form of L-asparagine arising from transfer of a proton from the carboxy to the amino group; major species at pH 7.3. MetaCyc:ASN hp.json (2S)-4-amino-2-azaniumyl-4-oxobutanoate|(2S)-2-ammonio-3-carbamoylpropanoate|L-asparagine|(2S)-4-amino-2-ammonio-4-oxobutanoate|(2S)-2-azaniumyl-3-carbamoylpropanoate http://purl.obolibrary.org/obo/CHEBI_58048 3_STAR HP:0005174 biolink:PhenotypicFeature Membranous subvalvular aortic stenosis Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency. UMLS:C1848978 hp.json http://purl.obolibrary.org/obo/HP_0005174 HP:0032731 biolink:PhenotypicFeature Focal aware hyperkinetic seizure A type of focal hypermotor seizure during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032731 HP:0032730 biolink:PhenotypicFeature Focal impaired awareness myoclonic seizure A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032730 HP:0032737 biolink:PhenotypicFeature Focal emotional seizure with paranoia Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032737 HP:0032736 biolink:PhenotypicFeature Focal emotional seizure with anger Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour. hp.json http://purl.obolibrary.org/obo/HP_0032736 HP:0032739 biolink:PhenotypicFeature Focal emotional seizure with fear/anxiety/panic Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. hp.json http://purl.obolibrary.org/obo/HP_0032739 HP:0032738 biolink:PhenotypicFeature Focal aware emotional seizure with fear/anxiety/panic Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032738 HP:0032733 biolink:PhenotypicFeature Focal aware motor seizure with dysarthria/anarthria A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure. hp.json Focal motor aware seizure with dysarthria/anarthria http://purl.obolibrary.org/obo/HP_0032733 HP:0005147 biolink:PhenotypicFeature Bidirectional ventricular ectopy UMLS:C1969410 hp.json http://purl.obolibrary.org/obo/HP_0005147 HP:0005148 biolink:PhenotypicFeature Pulmonary valve defects Any defect in the valve connecting the heart and the pulmonary artery. UMLS:C1860165 hp.json http://purl.obolibrary.org/obo/HP_0005148 HP:0032732 biolink:PhenotypicFeature Focal aware motor seizure with paresis/paralysis A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure. hp.json Focal motor aware seizure with paresis/paralysis http://purl.obolibrary.org/obo/HP_0032732 HP:0032735 biolink:PhenotypicFeature Focal aware emotional seizure with anger Focal emotional seizure with anger in which awareness is retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032735 HP:0032734 biolink:PhenotypicFeature Focal aware emotional seizure A focal emotional seizure during which awareness is retained throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032734 HP:0005143 biolink:PhenotypicFeature Anomalous origin of right pulmonary artery from ascending aorta The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. SNOMEDCT_US:253634009|UMLS:C0345037 hp.json http://purl.obolibrary.org/obo/HP_0005143 HP:0005144 biolink:PhenotypicFeature Ventricular septal hypertrophy The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. UMLS:C1845019 hp.json Thickened interventricular septum http://purl.obolibrary.org/obo/HP_0005144 HP:0005145 biolink:PhenotypicFeature Coronary artery stenosis Abnormal narrowing of the coronary artery. UMLS:C0242231|MSH:D023921|SNOMEDCT_US:233970002 hp.json Narrowing of coronary artery http://purl.obolibrary.org/obo/HP_0005145 HP:0005146 biolink:PhenotypicFeature Cardiac valve calcification Abnormal calcification of a cardiac valve. UMLS:C1856483 hp.json Calcifications of the cardiac valves http://purl.obolibrary.org/obo/HP_0005146 HP:0005141 biolink:PhenotypicFeature obsolete Episodes of ventricular tachycardia hp.json http://purl.obolibrary.org/obo/HP_0005141 PATO:0001608 biolink:NamedThing patchy A spatial pattern inhering in a bearer by virtue of the bearer's being marked by, consisting of, or diversified with patches. hp.json http://purl.obolibrary.org/obo/PATO_0001608 mpath_slim|value_slim PATO:0001609 biolink:NamedThing sparse A spatial pattern inhering in a bearer by virtue of the bearer's being scattered; spread irregularly, and at a distance from each other. hp.json http://purl.obolibrary.org/obo/PATO_0001609 mpath_slim|value_slim HP:0005160 biolink:PhenotypicFeature Total anomalous pulmonary venous return Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. SNOMEDCT_US:39905002|MSH:D012587|Fyler:0900|SNOMEDCT_US:111323005|UMLS:C0036400|Fyler:900 hp.json Total anomalous pulmonary venous connection|Total anomalous pulmonary venous drainage http://purl.obolibrary.org/obo/HP_0005160 PATO:0001600 biolink:NamedThing posteriorly rotated A rotation quality inhering in a bearer by virtue of being rotated towards the rear of organism. hp.json http://purl.obolibrary.org/obo/PATO_0001600 value_slim|mpath_slim HP:0032740 biolink:PhenotypicFeature Focal aware autonomic seizure A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout. hp.json Localized autonomic seizures without altered responsiveness|Focal autonomic seizures without altered responsiveness|Localised autonomic seizures without altered responsiveness|Partial autonomic seizures without altered responsiveness http://purl.obolibrary.org/obo/HP_0032740 HP:0032742 biolink:PhenotypicFeature Focal aware emotional seizure with pleasure Focal emotional seizure with pleasure in which awareness is retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032742 HP:0032741 biolink:PhenotypicFeature Focal aware emotional seizure with paranoia Focal emotional seizure with paranoia in which awareness is retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032741 PATO:0001602 biolink:NamedThing distended A size quality inhering in a bearer by virtue of the bearer's being abnormally expanded or increased in size. hp.json expanded http://purl.obolibrary.org/obo/PATO_0001602 value_slim|mpath_slim CHEBI:61660 biolink:ChemicalSubstance organic sulfamate oxoanion An anion resulting from the removal of a proton from an organic sulfamic acid group. hp.json an organic sulfamic acid anion|organic sulfamic acid anions http://purl.obolibrary.org/obo/CHEBI_61660 3_STAR HP:0032748 biolink:PhenotypicFeature Focal impaired awareness emotional seizure with anger Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032748 HP:0032747 biolink:PhenotypicFeature Focal impaired awareness emotional seizure with pleasure Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032747 HP:0032749 biolink:PhenotypicFeature Focal impaired awareness emotional seizure with paranoia Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032749 HP:0032744 biolink:PhenotypicFeature Focal aware emotional seizure with agitation Focal emotional seizure with agitation in which awareness is retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032744 HP:0032743 biolink:PhenotypicFeature Focal aware emotional seizure with crying Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032743 HP:0032746 biolink:PhenotypicFeature Focal impaired awareness emotional seizure A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032746 HP:0032745 biolink:PhenotypicFeature Focal aware emotional seizure with laughing Focal emotional seizure with laughing in which awareness is retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032745 HP:0005155 biolink:PhenotypicFeature Ventricular escape rhythm A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). SNOMEDCT_US:81898007|UMLS:C0232216 hp.json Idioventricular escape rhythm http://purl.obolibrary.org/obo/HP_0005155 HP:0005156 biolink:PhenotypicFeature Hypoplastic left atrium Underdeveloped, small left heart atrium UMLS:C1970625|Fyler:3040 hp.json Left atrium hypoplasia|Underdeveloped left heart atrium http://purl.obolibrary.org/obo/HP_0005156 HP:0005157 biolink:PhenotypicFeature Concentric hypertrophic cardiomyopathy Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. UMLS:C0238044 hp.json Symmetric, concentric, hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/HP_0005157 HP:0005150 biolink:PhenotypicFeature Abnormal atrioventricular conduction An impairment of the electrical continuity between the atria and ventricles. UMLS:C4025244 hp.json http://purl.obolibrary.org/obo/HP_0005150 HP:0005151 biolink:PhenotypicFeature Preductal coarctation of the aorta Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. UMLS:C0265878|SNOMEDCT_US:13867009 hp.json Proximal aortic coarctation http://purl.obolibrary.org/obo/HP_0005151 HP:0005152 biolink:PhenotypicFeature Histiocytoid cardiomyopathy A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells. UMLS:C1708371|MSH:C535584 hp.json Focal lipid cardiomyopathy|Myocardial or conduction system hamartoma|Infantile xanthomatous cardiomyopathy|Isolated cardiac lipidosis|Foamy myocardial transformation|Infantile cardiomyopathy with histiocytoid changes|Arachnocytosis of the myocardium|Oncocytic cardiomyopathy http://purl.obolibrary.org/obo/HP_0005152 UBERON:2001053 biolink:AnatomicalEntity future internal carotid artery ZFA:0001053|EFO:0003612|TAO:0001053 hp.json primitive internal carotid artery|PICA http://purl.obolibrary.org/obo/UBERON_2001053 GO:0060591 biolink:BiologicalProcess chondroblast differentiation The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes. hp.json chondrocyte progenitor cell differentiation http://purl.obolibrary.org/obo/GO_0060591 HP:0007708 biolink:PhenotypicFeature Absent inner eyelashes UMLS:C4024812 hp.json Absent inner eyelashes http://purl.obolibrary.org/obo/HP_0007708 HP:0007707 biolink:PhenotypicFeature Congenital aphakia Absence of the crystalline lens of the eye as a result of a developmental defect. MSH:C537786|UMLS:C1853230 hp.json Lens agenesis http://purl.obolibrary.org/obo/HP_0007707 HP:0007709 biolink:PhenotypicFeature Band-shaped corneal dystrophy A type of genetically determined disease of the cornea with corneal lesions with a band-like shape. SNOMEDCT_US:35055000|UMLS:C0155120|MSH:C562399 hp.json http://purl.obolibrary.org/obo/HP_0007709 HP:0007704 biolink:PhenotypicFeature Paroxysmal involuntary eye movements Sudden-onset episode of abnormal, involuntary eye movements. UMLS:C1847515 hp.json Abnormal eye movements, paroxysmal http://purl.obolibrary.org/obo/HP_0007704 HP:0007703 biolink:PhenotypicFeature Abnormality of retinal pigmentation UMLS:C1862475|SNOMEDCT_US:421689001|UMLS:C1720508 hp.json Abnormality of RPE|Abnormality of the retinal pigment epithelium|Abnormal retinal pigmentation|Retinal pigmentary anomaly|Abnormality of retinal pigment epithelium http://purl.obolibrary.org/obo/HP_0007703 HP:0007705 biolink:PhenotypicFeature Corneal degeneration UMLS:C0155118|SNOMEDCT_US:111521006 hp.json http://purl.obolibrary.org/obo/HP_0007705 HP:0007700 biolink:PhenotypicFeature Ocular anterior segment dysgenesis Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. UMLS:C0266525|SNOMEDCT_US:65075004 hp.json Anterior chamber cleavage disorder|Anterior segment developmental abnormality|Anterior chamber mesodermal anomalies|Anterior segment mesencyhmal dysgenesis|Anterior chamber malformation|Anterior segment dysgenesis|Anterior segment ocular dysgenesis|Anterior chamber cleavage defect http://purl.obolibrary.org/obo/HP_0007700 HP:0007702 biolink:PhenotypicFeature obsolete Pigmentary retinal deposits hp.json http://purl.obolibrary.org/obo/HP_0007702 GO:0072577 biolink:BiologicalProcess endothelial cell apoptotic process Any apoptotic process in an endothelial cell. An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. hp.json apoptosis of endothelial cells|programmed cell death of endothelial cells by apoptosis|killing of endothelial cells|endothelial cell apoptosis|programmed cell death, endothelial cells|endothelial cell programmed cell death by apoptosis http://purl.obolibrary.org/obo/GO_0072577 GO:0060581 biolink:BiologicalProcess cell fate commitment involved in pattern specification The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells within a field of cells that will exhibit a certain pattern of differentiation. Positional information is established through protein signals that emanate from a localized source within a developmental field resulting in specification of a cell type. Those signals are then interpreted in a cell-autonomous manner resulting in the determination of the cell type. hp.json http://purl.obolibrary.org/obo/GO_0060581 HP:0007715 biolink:PhenotypicFeature Weak extraocular muscles UMLS:C1859436 hp.json http://purl.obolibrary.org/obo/HP_0007715 GO:0060586 biolink:BiologicalProcess multicellular organismal iron ion homeostasis Any process involved in the maintenance of the distribution of iron stores within tissues and organs of a multicellular organism. hp.json http://purl.obolibrary.org/obo/GO_0060586 HP:0007717 biolink:PhenotypicFeature Chronic irritative conjunctivitis A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes. UMLS:C4024810 hp.json http://purl.obolibrary.org/obo/HP_0007717 HP:0007716 biolink:PhenotypicFeature Uveal melanoma A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). MSH:C536494|UMLS:C0220633|NCIT:C3224 hp.json Intraocular melanoma http://purl.obolibrary.org/obo/HP_0007716 HP:0007710 biolink:PhenotypicFeature Peripheral vitreous opacities UMLS:C4024811 hp.json http://purl.obolibrary.org/obo/HP_0007710 HP:0007713 biolink:PhenotypicFeature obsolete Juvenile zonular cataracts hp.json http://purl.obolibrary.org/obo/HP_0007713 HP:0007712 biolink:PhenotypicFeature obsolete Choroidal dystrophy hp.json http://purl.obolibrary.org/obo/HP_0007712 GO:0072594 biolink:BiologicalProcess establishment of protein localization to organelle The directed movement of a protein to a specific location on or in an organelle. Encompasses establishment of localization in the membrane or lumen of a membrane-bounded organelle. hp.json establishment of protein localisation to organelle http://purl.obolibrary.org/obo/GO_0072594 GO:0072593 biolink:BiologicalProcess reactive oxygen species metabolic process The chemical reactions and pathways involving a reactive oxygen species, any molecules or ions formed by the incomplete one-electron reduction of oxygen. They contribute to the microbicidal activity of phagocytes, regulation of signal transduction and gene expression, and the oxidative damage to biopolymers. hp.json reactive oxygen species metabolism|ROS metabolic process http://purl.obolibrary.org/obo/GO_0072593 GO:0072592 biolink:BiologicalProcess oxygen metabolic process The chemical reactions and pathways involving diatomic oxygen (O2). hp.json diatomic oxygen metabolic process|oxygen metabolism http://purl.obolibrary.org/obo/GO_0072592 UBERON:2001073 biolink:AnatomicalEntity axial vasculature ZFA:0001073 hp.json http://purl.obolibrary.org/obo/UBERON_2001073 GO:1901464 biolink:BiologicalProcess negative regulation of tetrapyrrole biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole biosynthetic process. hp.json down regulation of tetrapyrrole anabolism|downregulation of tetrapyrrole synthesis|inhibition of tetrapyrrole biosynthesis|down-regulation of tetrapyrrole anabolism|downregulation of tetrapyrrole formation|negative regulation of tetrapyrrole anabolism|down regulation of tetrapyrrole synthesis|negative regulation of tetrapyrrole biosynthesis|down-regulation of tetrapyrrole biosynthetic process|down-regulation of tetrapyrrole biosynthesis|down-regulation of tetrapyrrole synthesis|down regulation of tetrapyrrole formation|inhibition of tetrapyrrole anabolism|negative regulation of tetrapyrrole synthesis|down regulation of tetrapyrrole biosynthetic process|down regulation of tetrapyrrole biosynthesis|down-regulation of tetrapyrrole formation|negative regulation of tetrapyrrole formation|inhibition of tetrapyrrole synthesis|downregulation of tetrapyrrole biosynthetic process|inhibition of tetrapyrrole biosynthetic process|downregulation of tetrapyrrole anabolism|downregulation of tetrapyrrole biosynthesis|inhibition of tetrapyrrole formation http://purl.obolibrary.org/obo/GO_1901464 GO:1901465 biolink:BiologicalProcess positive regulation of tetrapyrrole biosynthetic process Any process that activates or increases the frequency, rate or extent of tetrapyrrole biosynthetic process. hp.json up regulation of tetrapyrrole biosynthesis|up regulation of tetrapyrrole biosynthetic process|up-regulation of tetrapyrrole synthesis|up regulation of tetrapyrrole formation|activation of tetrapyrrole biosynthetic process|positive regulation of tetrapyrrole biosynthesis|activation of tetrapyrrole anabolism|upregulation of tetrapyrrole anabolism|up-regulation of tetrapyrrole formation|upregulation of tetrapyrrole biosynthetic process|upregulation of tetrapyrrole biosynthesis|activation of tetrapyrrole biosynthesis|activation of tetrapyrrole synthesis|upregulation of tetrapyrrole synthesis|positive regulation of tetrapyrrole anabolism|up regulation of tetrapyrrole anabolism|activation of tetrapyrrole formation|upregulation of tetrapyrrole formation|positive regulation of tetrapyrrole synthesis|up-regulation of tetrapyrrole biosynthetic process|up-regulation of tetrapyrrole biosynthesis|up-regulation of tetrapyrrole anabolism|up regulation of tetrapyrrole synthesis|positive regulation of tetrapyrrole formation http://purl.obolibrary.org/obo/GO_1901465 GO:1901463 biolink:BiologicalProcess regulation of tetrapyrrole biosynthetic process Any process that modulates the frequency, rate or extent of tetrapyrrole biosynthetic process. hp.json regulation of tetrapyrrole synthesis|regulation of tetrapyrrole formation|regulation of tetrapyrrole biosynthesis|regulation of tetrapyrrole anabolism http://purl.obolibrary.org/obo/GO_1901463 HP:0032704 biolink:PhenotypicFeature Focal aware cognitive seizure with illusion A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032704 HP:0032703 biolink:PhenotypicFeature obsolete Hallucinatory aura hp.json http://purl.obolibrary.org/obo/HP_0032703 HP:0032706 biolink:PhenotypicFeature Focal aware cognitive seizure with left-right confusion A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032706 HP:0032705 biolink:PhenotypicFeature Focal aware cognitive seizure with forced thinking A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032705 HP:0032700 biolink:PhenotypicFeature Focal cognitive seizure with left-right confusion A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032700 HP:0032702 biolink:PhenotypicFeature Focal cognitive seizure with expressive dysphasia/aphasia A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032702 HP:0032701 biolink:PhenotypicFeature Focal cognitive seizure with anomia A focal cognitive seizure characterized by anomia as the initial semiological manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032701 HP:0032708 biolink:PhenotypicFeature Focal aware cognitive seizure with anomia A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032708 GO:0035592 biolink:BiologicalProcess establishment of protein localization to extracellular region The directed movement of a protein to a specific location within the extracellular region. hp.json establishment of protein localisation in extracellular region|establishment of protein localization in extracellular region http://purl.obolibrary.org/obo/GO_0035592 HP:0032707 biolink:PhenotypicFeature Focal aware cognitive seizure with dyslexia/alexia A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032707 HP:0032709 biolink:PhenotypicFeature Focal aware cognitive seizure with dysgraphia/agraphia A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032709 HP:0007748 biolink:PhenotypicFeature obsolete Irido-fundal coloboma hp.json http://purl.obolibrary.org/obo/HP_0007748 HP:0007747 biolink:PhenotypicFeature Monocular horizontal nystagmus UMLS:C4024807 hp.json http://purl.obolibrary.org/obo/HP_0007747 GO:1901494 biolink:BiologicalProcess regulation of cysteine metabolic process Any process that modulates the frequency, rate or extent of cysteine metabolic process. hp.json regulation of cysteine metabolism http://purl.obolibrary.org/obo/GO_1901494 HP:0007744 biolink:PhenotypicFeature obsolete Iridoretinal coloboma hp.json http://purl.obolibrary.org/obo/HP_0007744 HP:0007740 biolink:PhenotypicFeature Long eyelashes in irregular rows UMLS:C1850640 hp.json Long eyelashes in irregular rows http://purl.obolibrary.org/obo/HP_0007740 GO:1901495 biolink:BiologicalProcess negative regulation of cysteine metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of cysteine metabolic process. hp.json downregulation of cysteine metabolic process|negative regulation of cysteine metabolism|down-regulation of cysteine metabolism|down regulation of cysteine metabolic process|down regulation of cysteine metabolism|inhibition of cysteine metabolic process|down-regulation of cysteine metabolic process|inhibition of cysteine metabolism|downregulation of cysteine metabolism http://purl.obolibrary.org/obo/GO_1901495 GO:1901496 biolink:BiologicalProcess positive regulation of cysteine metabolic process Any process that activates or increases the frequency, rate or extent of cysteine metabolic process. hp.json up regulation of cysteine metabolism|positive regulation of cysteine metabolism|up regulation of cysteine metabolic process|activation of cysteine metabolism|up-regulation of cysteine metabolic process|upregulation of cysteine metabolism|activation of cysteine metabolic process|upregulation of cysteine metabolic process|up-regulation of cysteine metabolism http://purl.obolibrary.org/obo/GO_1901496 HP:0007759 biolink:PhenotypicFeature Opacification of the corneal stroma Reduced transparency of the stroma of cornea. UMLS:C1856661|UMLS:C0423250|SNOMEDCT_US:246957002 hp.json Cloudy cornea|Cloudy corneas|Corneal stromal opacity http://purl.obolibrary.org/obo/HP_0007759 HP:0007758 biolink:PhenotypicFeature obsolete Congenital visual impairment hp.json http://purl.obolibrary.org/obo/HP_0007758 HP:0007755 biolink:PhenotypicFeature Juvenile epithelial corneal dystrophy MSH:D053559|UMLS:C0339277|SNOMEDCT_US:1674008 hp.json http://purl.obolibrary.org/obo/HP_0007755 GO:0035577 biolink:CellularComponent azurophil granule membrane The lipid bilayer surrounding an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. hp.json primary granule membrane http://purl.obolibrary.org/obo/GO_0035577 HP:0007754 biolink:PhenotypicFeature Macular dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. UMLS:C0730292 hp.json http://purl.obolibrary.org/obo/HP_0007754 hposlim_core HP:0007757 biolink:PhenotypicFeature obsolete Hypoplasia of choroid hp.json http://purl.obolibrary.org/obo/HP_0007757 HP:0007756 biolink:PhenotypicFeature obsolete Slitlike anterior chamber angles in children hp.json http://purl.obolibrary.org/obo/HP_0007756 HP:0007750 biolink:PhenotypicFeature Hypoplasia of the fovea Underdevelopment of the fovea centralis. UMLS:C4072863|UMLS:C2673946 hp.json Foveal hypoplasia http://purl.obolibrary.org/obo/HP_0007750 PR:P18181 biolink:Protein CD48 antigen (mouse) A CD48 molecule that is encoded in the genome of mouse. UniProtKB:P18181 hp.json CD48 (mouse)|Cd48|mCD48|SLAMF2 (mouse)|BCM1 surface antigen (mouse)|Bcm-1|MRC OX-45 surface antigen (mouse)|HM48-1 (mouse)|signaling lymphocytic activation molecule 2 (mouse)|SLAM family member 2 (mouse)|BLAST-1 (mouse)|sgp-60 (mouse) http://purl.obolibrary.org/obo/PR_P18181 GO:0035562 biolink:BiologicalProcess negative regulation of chromatin binding Any process that stops or reduces the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. hp.json http://purl.obolibrary.org/obo/GO_0035562 GO:0035563 biolink:BiologicalProcess positive regulation of chromatin binding Any process that increases the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. hp.json http://purl.obolibrary.org/obo/GO_0035563 HP:0007728 biolink:PhenotypicFeature Congenital miosis Abnormal (non-physiological) constriction of the pupil of congenital onset. MSH:C537550|SNOMEDCT_US:400962005|UMLS:C1303009 hp.json http://purl.obolibrary.org/obo/HP_0007728 HP:0007727 biolink:PhenotypicFeature Opacification of the corneal epithelium Lack of transparency of the corneal epithelium. UMLS:C1849198 hp.json Superficial corneal opacities http://purl.obolibrary.org/obo/HP_0007727 HP:0007722 biolink:PhenotypicFeature Retinal pigment epithelial atrophy Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. UMLS:C1840457 hp.json http://purl.obolibrary.org/obo/HP_0007722 HP:0007721 biolink:PhenotypicFeature Saccular conjunctival dilatations Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva. UMLS:C3277464 hp.json Saccular conjunctival aneurysms http://purl.obolibrary.org/obo/HP_0007721 HP:0007720 biolink:PhenotypicFeature Flat cornea Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. UMLS:C0344529|SNOMEDCT_US:204145006 hp.json Cornea plana http://purl.obolibrary.org/obo/HP_0007720 GO:0035561 biolink:BiologicalProcess regulation of chromatin binding Any process that modulates the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. hp.json http://purl.obolibrary.org/obo/GO_0035561 HP:0007737 biolink:PhenotypicFeature Bone spicule pigmentation of the retina Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). UMLS:C1836926 hp.json Retinal pigmented bone spicules|Retinal bone corpuscle pigmentation|Bone corpuscle fundus pigmentation|Fundus with peripheral bony spicules|Retinal 'bone corpuscle' pigmentation http://purl.obolibrary.org/obo/HP_0007737 HP:0007736 biolink:PhenotypicFeature obsolete Pericentral retinal dystrophy hp.json http://purl.obolibrary.org/obo/HP_0007736 HP:0007739 biolink:PhenotypicFeature obsolete Mildly reduced visual acuity hp.json http://purl.obolibrary.org/obo/HP_0007739 HP:0007738 biolink:PhenotypicFeature Uncontrolled eye movements UMLS:C1854686 hp.json http://purl.obolibrary.org/obo/HP_0007738 HP:0007733 biolink:PhenotypicFeature Laterally curved eyebrow UMLS:C1846266 hp.json http://purl.obolibrary.org/obo/HP_0007733 GO:0035556 biolink:BiologicalProcess intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. hp.json intracellular signaling cascade|intracellular protein kinase cascade|intracellular signaling pathway|signal transduction via intracellular signaling cascade|protein kinase cascade|intracellular signaling chain|intracellular signal transduction pathway|signal transmission via intracellular cascade http://purl.obolibrary.org/obo/GO_0035556 goslim_drosophila HP:0007732 biolink:PhenotypicFeature Lacrimal gland hypoplasia Underdevelopment of the lacrimal gland. UMLS:C1863200 hp.json Underdeveloped tear gland|Hypoplastic lacrimal gland http://purl.obolibrary.org/obo/HP_0007732 HP:0007734 biolink:PhenotypicFeature Enlarged lacrimal glands Abnormally big lacrimal glands. UMLS:C1867030 hp.json Enlarged tear gland http://purl.obolibrary.org/obo/HP_0007734 HP:0007731 biolink:PhenotypicFeature Chorioretinal dysplasia Abnormal development of the choroid and retina. UMLS:C4024809 hp.json http://purl.obolibrary.org/obo/HP_0007731 HP:0007730 biolink:PhenotypicFeature Iris hypopigmentation An abnormal reduction in the amount of pigmentation of the iris. UMLS:C0154920|SNOMEDCT_US:70397008|SNOMEDCT_US:247032003 hp.json Light eye color|Light eye colour|Reduced iris pigmentation http://purl.obolibrary.org/obo/HP_0007730 UBERON:0013491 biolink:AnatomicalEntity cervical fascia Any fascia tissue that is part of the neck region. FMA:76866 hp.json fascia of neck http://purl.obolibrary.org/obo/UBERON_0013491 UBERON:0013493 biolink:AnatomicalEntity abdominal fascia A fascia that is part of a abdomen. FMA:19841 hp.json fascia of abdomen|endo-abdominopelvic fascia http://purl.obolibrary.org/obo/UBERON_0013493 UBERON:0013498 biolink:AnatomicalEntity vestibulo-cochlear VIII ganglion complex EHDAA2:0004313|EMAPA:17570 hp.json vestibulocochlear VIII ganglion complex|vestibulocochlear ganglion complex|vestibular VIII ganglion complex http://purl.obolibrary.org/obo/UBERON_0013498 CHEBI:24654 biolink:ChemicalSubstance hydroxy fatty acid Any fatty acid carrying one or more hydroxy substituents. PMID:18296335|LIPID_MAPS_class:LMFA0105|PMID:6419288|PMID:8274032 hp.json hydroxy fatty acids http://purl.obolibrary.org/obo/CHEBI_24654 3_STAR CHEBI:24651 biolink:ChemicalSubstance hydroxides Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-)). hp.json http://purl.obolibrary.org/obo/CHEBI_24651 3_STAR GO:0060501 biolink:BiologicalProcess positive regulation of epithelial cell proliferation involved in lung morphogenesis Any process that increases the rate or frequency of epithelial cell proliferation that results in the lung attaining its shape. hp.json http://purl.obolibrary.org/obo/GO_0060501 GO:0060502 biolink:BiologicalProcess epithelial cell proliferation involved in lung morphogenesis The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population that contributes to the shaping of the lung. hp.json http://purl.obolibrary.org/obo/GO_0060502 CHEBI:24621 biolink:ChemicalSubstance hormone Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. hp.json hormones|endocrine http://purl.obolibrary.org/obo/CHEBI_24621 3_STAR UBERON:0013472 biolink:AnatomicalEntity upper esophagus The upper one third of esophagus in which the muscle layer is composed of muscle cells of the striated type. NCIT:C12253|UMLS:C0227187 hp.json proximal part of esophagus|upper third of esophagus http://purl.obolibrary.org/obo/UBERON_0013472 CHEBI:36608 biolink:ChemicalSubstance acyclic acid anhydride hp.json acyclic anhydrides|acyclic acid anhydride|acyclic acid anhydrides|acyclic acid anhydrides http://purl.obolibrary.org/obo/CHEBI_36608 3_STAR UBERON:0013479 biolink:AnatomicalEntity lung endothelium A blood vessel endothelium that is part of a lung [Automatically generated definition]. BTO:0004128|CALOHA:TS-0573 hp.json respiratory endothelium http://purl.obolibrary.org/obo/UBERON_0013479 CHEBI:36606 biolink:ChemicalSubstance acid anhydride Compounds consisting of two acyl groups bonded to the same oxygen atom acyl-O-acyl. hp.json acid anhydrides|acid anhydrides|anhydride d'acide|acid anhydride http://purl.obolibrary.org/obo/CHEBI_36606 3_STAR UBERON:0013475 biolink:AnatomicalEntity gustatory gland A serous salivary gland which resides adjacent to the moats surrounding the circumvallate papillae in the posterior one-third of the tongue, anterior to the terminal sulcus. FMA:293448 hp.json von Ebner gland|posterior deep lingual gland|von Ebner's gland|posterior lingual serous gland http://purl.obolibrary.org/obo/UBERON_0013475 pheno_slim UBERON:0001491 biolink:AnatomicalEntity wrist joint A joint connecting the forelimb zeugopod skeleton with the carpal skeleton. FMA:321842|EMAPA:19205|OpenCyc:Mx4rvZD2PJwpEbGdrcN5Y29ycA|UMLS:C1322271|MESH:D014955|galen:WristJoint|NCIT:C33894|GAID:274|MA:0000460 hp.json joint of wrist|radiocarpal joint|joint of carpal region|carpal region joint http://purl.obolibrary.org/obo/UBERON_0001491 uberon_slim UBERON:0001490 biolink:AnatomicalEntity elbow joint A joint that connects the forelimb zeugopod and stylopod skeletons[Obol]. FMA:35289|UMLS:C0013770|GAID:253|EMAPA:19102|NCIT:C32497|MA:0000451|VHOG:0000997|galen:ElbowJoint|MESH:D004551 hp.json articulatio cubiti|joint of cubital region|joint of elbow|cubital region joint http://purl.obolibrary.org/obo/UBERON_0001490 uberon_slim|pheno_slim UBERON:0001493 biolink:AnatomicalEntity axillary nerve The axillary nerve is a nerve of the human body, that comes off the posterior cord of the brachial plexus at the level of the axilla (armpit) and carries nerve fibers from C5 and C6. The axillary nerve travels through the quadrangular space with the posterior circumflex humeral artery and vein. [WP,unvetted]. OpenCyc:Mx4rvgwMfpwpEbGdrcN5Y29ycA|EMAPA:18802|UMLS:C0228885|MA:0001166|NCIT:C52817|FMA:37072 hp.json circumflex nerve|auxillery nerve|nervus axillaris|circumflex humeral nerve|nervus axillaris http://purl.obolibrary.org/obo/UBERON_0001493 human_reference_atlas|uberon_slim UBERON:0001492 biolink:AnatomicalEntity radial nerve A nerve that supplies the upper limb, including the triceps brachii muscle of the arm, as well as all 12 muscles in the posterior osteofascial compartment of the forearm, as well as the associated joints and overlying skin. MA:0001171|GAID:845|MESH:D011826|NCIT:C52812|FMA:37069|OpenCyc:Mx4rvfk7E5wpEbGdrcN5Y29ycA|EMAPA:17278|EHDAA2:0001584|UMLS:C0034518|EHDAA:5650|VHOG:0000896 hp.json nervus radialis http://purl.obolibrary.org/obo/UBERON_0001492 uberon_slim|human_reference_atlas GO:0060536 biolink:BiologicalProcess cartilage morphogenesis The process in which the anatomical structures of cartilage are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0060536 UBERON:0001499 biolink:AnatomicalEntity muscle of arm A muscle organ that is part of an arm [Automatically generated definition]. EHDAA:8277|RETIRED_EHDAA2:0000142|EMAPA:36053|MA:0000594 hp.json muscle of upper arm or lower arm|arm skeletal muscle|arm muscle system|arm skeletal muscle tissue|upper arm / lower arm muscle|arm muscle http://purl.obolibrary.org/obo/UBERON_0001499 pheno_slim GO:0060537 biolink:BiologicalProcess muscle tissue development The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers. hp.json http://purl.obolibrary.org/obo/GO_0060537 UBERON:0001498 biolink:AnatomicalEntity muscle of pes Any muscle organ that is part of a pes [Automatically generated definition]. BTO:0000477|FMA:37369|MA:0000652|EMAPA:36160 hp.json muscle of foot|foot muscle organ|foot muscle|muscle organ of foot http://purl.obolibrary.org/obo/UBERON_0001498 GO:0060538 biolink:BiologicalProcess skeletal muscle organ development The progression of a skeletal muscle organ over time from its initial formation to its mature state. A skeletal muscle organ includes the skeletal muscle tissue and its associated connective tissue. hp.json http://purl.obolibrary.org/obo/GO_0060538 CHEBI:24628 biolink:ChemicalSubstance imidazolidine-2,4-dione An imidazolidinone with oxo groups at position 2 and 4. hp.json http://purl.obolibrary.org/obo/CHEBI_24628 3_STAR GO:0060539 biolink:BiologicalProcess diaphragm development The progression of the diaphragm over time from its initial formation to the mature structure. The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs. hp.json http://purl.obolibrary.org/obo/GO_0060539 UBERON:0001495 biolink:AnatomicalEntity pectoral muscle Muscles of the upper chest. The term may refer to one of two muscles, the pectoralis major and pectoralis minor. The former is a thick muscle in the anterior portion of the chest. Its action involves flexion, medial rotation, and adduction of the humerus. The latter is a thin muscle located beneath the pectoralis major. Its action involves lowering the scapula and raising the ribs. FMA:37349|BTO:0000023|AAO:0010727|CALOHA:TS-0751|MESH:D010369|EMAPA:35670|MA:0002423|GAID:153|UMLS:C0030747|NCIT:C33286 hp.json muscle of pectoral region|muscle of pectoral part of chest|pectoralis group muscle|breast muscle|M. pectoralis|pectoralis muscle|pectoralis http://purl.obolibrary.org/obo/UBERON_0001495 uberon_slim|grouping_class|pheno_slim UBERON:0001497 biolink:AnatomicalEntity muscle of pelvic girdle Any muscle organ that is part of a pelvic girdle [Automatically generated definition]. EMAPA:18185|EMAPA:18184|MA:0000537|FMA:37367|RETIRED_EHDAA2:0001430|EHDAA:8326 hp.json pelvic girdle skeletal muscle|muscle organ of girdle-pelvic|pelvic girdle muscle organ|pelvic girdle muscle|muscle organ of pelvic girdle bone|muscle organ of pelvic girdle|girdle-pelvic muscle organ http://purl.obolibrary.org/obo/UBERON_0001497 pheno_slim UBERON:0001496 biolink:AnatomicalEntity ascending aorta The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]. MA:0002570|NCIT:C32150|OpenCyc:Mx4rwVFqO5wpEbGdrcN5Y29ycA|EHDAA:9828|EMAPA:17014|EHDAA2:0000147|UMLS:C0003956|FMA:3736 hp.json pars ascendens aortae|pars ascendens aortae|aorta ascendens|ascending thoracic aorta http://purl.obolibrary.org/obo/UBERON_0001496 human_reference_atlas|uberon_slim|pheno_slim CHEBI:24632 biolink:ChemicalSubstance hydrocarbon A compound consisting of carbon and hydrogen only. hp.json Kohlenwasserstoff|hidrocarburo|hidrocarburos|hydrocarbon|Kohlenwasserstoffe|hydrocarbure|hydrocarbons http://purl.obolibrary.org/obo/CHEBI_24632 3_STAR UBERON:0001480 biolink:AnatomicalEntity proximal carpal bone A carpal bone that proximally_connected_to a forelimb zeugopod skeleton. FMA:33302|MA:0002557|EMAPA:36164 hp.json http://purl.obolibrary.org/obo/UBERON_0001480 UBERON:0001482 biolink:AnatomicalEntity muscle of shoulder Any muscle organ that is part of a shoulder [Automatically generated definition]. FMA:33531|MA:0000633|EMAPA:36154 hp.json shoulder muscle organ|shoulder muscle|muscle organ of shoulder http://purl.obolibrary.org/obo/UBERON_0001482 UBERON:0001481 biolink:AnatomicalEntity distal carpal bone A distal carpal endochondral element that is composed primarily of a bone tissue. FMA:33303|MA:0002558|AAO:0000847|EMAPA:36168 hp.json distal carpal http://purl.obolibrary.org/obo/UBERON_0001481 GO:0072507 biolink:BiologicalProcess divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0072507 GO:0072506 biolink:BiologicalProcess trivalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of trivalent inorganic anions within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0072506 GO:0072505 biolink:BiologicalProcess divalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of divalent inorganic anions within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0072505 UBERON:0001488 biolink:AnatomicalEntity ankle joint A joint that connects the hindlimb autopod and zeugopod skeletons. NCIT:C32078|UMLS:C0003087|OpenCyc:Mx4rvwiy35wpEbGdrcN5Y29ycA|EMAPA:35126|galen:AnkleJoint|GAID:257|MESH:D000843|BTO:0004706|FMA:35195|MA:0000463 hp.json gambrel|hock joint|talotibial joint|talocrural articulation|mortise joint|hock|talocrural joint http://purl.obolibrary.org/obo/UBERON_0001488 efo_slim|uberon_slim UBERON:0001487 biolink:AnatomicalEntity pes joint A skeletal joint that is part of a pes [Automatically generated definition]. MESH:D033023|EMAPA:32949|GAID:256|MA:0000464|FMA:35194 hp.json foot joint|pedal joint|articulationes pedis|joints of foot|hind limb autopod joint|joint of pes|joint of terminal segment of free lower limb http://purl.obolibrary.org/obo/UBERON_0001487 pheno_slim GO:0072503 biolink:BiologicalProcess cellular divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of divalent cations at the level of a cell. hp.json http://purl.obolibrary.org/obo/GO_0072503 GO:0072502 biolink:BiologicalProcess cellular trivalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of trivalent inorganic anions at the level of a cell. hp.json http://purl.obolibrary.org/obo/GO_0072502 GO:0072501 biolink:BiologicalProcess cellular divalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of divalent inorganic anions at the level of a cell. hp.json http://purl.obolibrary.org/obo/GO_0072501 UBERON:0001489 biolink:AnatomicalEntity manus joint A skeletal joint that is part of a manus (hand) [Automatically generated definition]. EMAPA:32641|MA:0000452 hp.json joint of terminal segment of free upper limb|hand joint|joint of manus|articulationes manus|joint of hand|manual joint http://purl.obolibrary.org/obo/UBERON_0001489 pheno_slim UBERON:0001484 biolink:AnatomicalEntity articular capsule An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. EMAPA:37621|MA:0001519|UMLS:C0206207|galen:JointCapsule|Wikipedia:Articular_capsule|NCIT:C32259|NCIT:C84388|SCTID:182238002|GAID:263|MESH:D017746|FMA:34836 hp.json capsulae articulares|joint capsule|capsulae articulares|capsula articularis|joint fibrous capsule|fibrous capsule of joint http://purl.obolibrary.org/obo/UBERON_0001484 uberon_slim|organ_slim UBERON:0001483 biolink:AnatomicalEntity skin of shoulder A zone of skin that is part of a shoulder region. FMA:34830|MA:0000635|EMAPA:18059 hp.json shoulder zone of skin|shoulder skin|zone of skin of shoulder http://purl.obolibrary.org/obo/UBERON_0001483 UBERON:0001486 biolink:AnatomicalEntity hip joint A synovial joint that connects the femur to the acetbulum of the innominate bone. MA:0000470|MESH:D006621|UMLS:C0019558|VHOG:0001001|FMA:35178|OpenCyc:Mx4rwP32b5wpEbGdrcN5Y29ycA|NCIT:C32742|EMAPA:19136|galen:HipJoint|GAID:262|BTO:0001502 hp.json femoro-iliac joint|articulatio coxofemoralis|coxal articulation http://purl.obolibrary.org/obo/UBERON_0001486 pheno_slim|uberon_slim UBERON:0001485 biolink:AnatomicalEntity knee joint The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation[WP,unvetted]. MA:0000471|galen:KneeJoint|VHOG:0001003|GAID:114|MESH:D007719|UMLS:C0022745|NCIT:C32898|EFO:0001957|EMAPA:19137|FMA:35175|OpenCyc:Mx4rwCuaYZwpEbGdrcN5Y29ycA hp.json articulatio genus|joint of knee http://purl.obolibrary.org/obo/UBERON_0001485 pheno_slim|efo_slim|human_reference_atlas|uberon_slim HP:0030091 biolink:PhenotypicFeature Absent muscle fiber merosin Lack of merosin protein in the muscle biopsy. UMLS:C4021055 hp.json Absent muscle fibre merosin|Absent muscle fibre laminin alpha 2|Absent muscle fiber laminin alpha 2|Absent merosin staining in muscle biopsy http://purl.obolibrary.org/obo/HP_0030091 HP:0030092 biolink:PhenotypicFeature Reduced muscle fiber merosin A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. UMLS:C4022651 hp.json Reduced muscle fibre merosin http://purl.obolibrary.org/obo/HP_0030092 HP:0030093 biolink:PhenotypicFeature Abnormal muscle fiber laminin beta 1 A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. UMLS:C4022650 hp.json Abnormal muscle fibre laminin beta 1 http://purl.obolibrary.org/obo/HP_0030093 HP:0030094 biolink:PhenotypicFeature Reduced muscle fiber laminin beta 1 A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. UMLS:C4022649 hp.json Reduced muscle fibre laminin beta 1 http://purl.obolibrary.org/obo/HP_0030094 HP:0030090 biolink:PhenotypicFeature Abnormal muscle fiber merosin expression An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. UMLS:C4022652 hp.json Abnormal muscle fibre merosin expression http://purl.obolibrary.org/obo/HP_0030090 GO:1901402 biolink:BiologicalProcess negative regulation of tetrapyrrole metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole metabolic process. hp.json down regulation of tetrapyrrole metabolic process|inhibition of tetrapyrrole metabolic process|down-regulation of tetrapyrrole metabolic process|down-regulation of tetrapyrrole metabolism|negative regulation of tetrapyrrole metabolism|down regulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolic process|inhibition of tetrapyrrole metabolism http://purl.obolibrary.org/obo/GO_1901402 HP:0030099 biolink:PhenotypicFeature Reduced muscle fiber alpha dystroglycan Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. UMLS:C4022646 hp.json Reduced muscle fibre alpha dystroglycan http://purl.obolibrary.org/obo/HP_0030099 GO:1901403 biolink:BiologicalProcess positive regulation of tetrapyrrole metabolic process Any process that activates or increases the frequency, rate or extent of tetrapyrrole metabolic process. hp.json upregulation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolism|up regulation of tetrapyrrole metabolic process|up-regulation of tetrapyrrole metabolism|up-regulation of tetrapyrrole metabolic process|up regulation of tetrapyrrole metabolism|activation of tetrapyrrole metabolic process|positive regulation of tetrapyrrole metabolism http://purl.obolibrary.org/obo/GO_1901403 GO:1901401 biolink:BiologicalProcess regulation of tetrapyrrole metabolic process Any process that modulates the frequency, rate or extent of tetrapyrrole metabolic process. hp.json regulation of tetrapyrrole metabolism http://purl.obolibrary.org/obo/GO_1901401 HP:0030095 biolink:PhenotypicFeature Reduced muscle collagen VI A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. UMLS:C4021054 hp.json Reduced collagen 6 in muscle http://purl.obolibrary.org/obo/HP_0030095 HP:0030096 biolink:PhenotypicFeature Abnormal muscle fiber dystrophin expression A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. UMLS:C4022648 hp.json Abnormal muscle fibre dystrophin expression http://purl.obolibrary.org/obo/HP_0030096 HP:0030097 biolink:PhenotypicFeature Absent muscle dystrophin expression Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. UMLS:C4022647 hp.json http://purl.obolibrary.org/obo/HP_0030097 HP:0030098 biolink:PhenotypicFeature Reduced muscle dystrophin expression A decreased amount of dystrophin in muscle fiber tissue. UMLS:C4021053 hp.json Reduced dystrophin staining in muscle http://purl.obolibrary.org/obo/HP_0030098 GO:0072537 biolink:BiologicalProcess fibroblast activation A change in the morphology or behavior of a fibroblast resulting from exposure to an activating factor such as a cellular or soluble ligand. hp.json http://purl.obolibrary.org/obo/GO_0072537 CHEBI:24610 biolink:ChemicalSubstance homocysteines hp.json http://purl.obolibrary.org/obo/CHEBI_24610 1_STAR CHEBI:24612 biolink:ChemicalSubstance homocystines A non-proteinogenic alpha-amino acid obtained by oxidative dimerisation of homocysteine and its derivatives. hp.json http://purl.obolibrary.org/obo/CHEBI_24612 3_STAR GO:0060540 biolink:BiologicalProcess diaphragm morphogenesis The process in which the anatomical structures of the diaphragm are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0060540 GO:0060541 biolink:BiologicalProcess respiratory system development The progression of the respiratory system over time from its formation to its mature structure. The respiratory system carries out respiratory gaseous exchange. hp.json http://purl.obolibrary.org/obo/GO_0060541 goslim_drosophila GO:0072527 biolink:BiologicalProcess pyrimidine-containing compound metabolic process The chemical reactions and pathways involving a pyrimidine-containing compound, i.e. any compound that contains pyrimidine or a formal derivative thereof. hp.json pyrimidine-containing compound metabolism|pyrimidine and derivative metabolic process http://purl.obolibrary.org/obo/GO_0072527 GO:0060548 biolink:BiologicalProcess negative regulation of cell death Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. hp.json http://purl.obolibrary.org/obo/GO_0060548 GO:0072521 biolink:BiologicalProcess purine-containing compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. hp.json purine-containing compound metabolism|purine and derivative metabolic process http://purl.obolibrary.org/obo/GO_0072521 GO:0060571 biolink:BiologicalProcess morphogenesis of an epithelial fold The morphogenetic process in which an epithelial sheet bends along a linear axis. hp.json folding of an epithelial sheet|epithelial folding http://purl.obolibrary.org/obo/GO_0060571 UBERON:0037447 biolink:AnatomicalEntity wall of male urethra FMA:19676 hp.json male urethral wall http://purl.obolibrary.org/obo/UBERON_0037447 GO:0060572 biolink:BiologicalProcess morphogenesis of an epithelial bud The morphogenetic process in which a bud forms from an epithelial sheet. A bud is a protrusion that forms form the sheet by localized folding. hp.json http://purl.obolibrary.org/obo/GO_0060572 GO:0060574 biolink:BiologicalProcess intestinal epithelial cell maturation The developmental process, independent of morphogenetic (shape) change, that is required for a columna/cuboidal epithelial cell of the intestine to attain its fully functional state. A columnar/cuboidal epithelial cell of the intestine mature as they migrate from the intestinal crypt to the villus. hp.json http://purl.obolibrary.org/obo/GO_0060574 GO:0060575 biolink:BiologicalProcess intestinal epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a columnar/cuboidal epithelial cell of the intestine. hp.json http://purl.obolibrary.org/obo/GO_0060575 GO:0060576 biolink:BiologicalProcess intestinal epithelial cell development The process whose specific outcome is the progression of a columnar/cuboidal epithelial cell of the intestine over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0060576 GO:0060577 biolink:BiologicalProcess pulmonary vein morphogenesis The process in which the anatomical structure of the pulmonary venous blood vessels are generated and organized. Pulmonary veins are blood vessels that transport blood from the lungs to the heart. hp.json pulmonary venous blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_0060577 GO:0060578 biolink:BiologicalProcess superior vena cava morphogenesis The process in which the anatomical structure of superior vena cava generated and organized. The superior vena cava is a blood vessel that transports blood from the upper body to the heart. hp.json http://purl.obolibrary.org/obo/GO_0060578 NCBITaxon:1338369 biolink:OrganismalEntity Dipnotetrapodomorpha GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_1338369 SO:0000010 biolink:SequenceFeature protein_coding hp.json protein-coding http://purl.obolibrary.org/obo/SO_0000010 UBERON:0037455 biolink:AnatomicalEntity wall of female urethra FMA:19780 hp.json female urethral wall http://purl.obolibrary.org/obo/UBERON_0037455 UBERON:0037459 biolink:AnatomicalEntity hair of limb FMA:54243 hp.json limb hair http://purl.obolibrary.org/obo/UBERON_0037459 GO:0060560 biolink:BiologicalProcess developmental growth involved in morphogenesis The increase in size or mass of an anatomical structure that contributes to the structure attaining its shape. hp.json differential growth http://purl.obolibrary.org/obo/GO_0060560 UBERON:0037458 biolink:AnatomicalEntity hair of neck FMA:54242 hp.json neck hair http://purl.obolibrary.org/obo/UBERON_0037458 GO:0060561 biolink:BiologicalProcess apoptotic process involved in morphogenesis Any apoptotic process that contributes to the shaping of an anatomical structure. hp.json apoptosis involved in development|apoptosis involved in morphogenesis|morphogenetic apoptosis http://purl.obolibrary.org/obo/GO_0060561 GO:0060562 biolink:BiologicalProcess epithelial tube morphogenesis The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. hp.json http://purl.obolibrary.org/obo/GO_0060562 GO:0060563 biolink:BiologicalProcess neuroepithelial cell differentiation The process in which epiblast cells acquire specialized features of neuroepithelial cells. hp.json http://purl.obolibrary.org/obo/GO_0060563 HP:0032470 biolink:PhenotypicFeature Monilethrix The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture. hp.json http://purl.obolibrary.org/obo/HP_0032470 UBERON:0003728 biolink:AnatomicalEntity mediastinum The central part of the thoracic cavity enclosed by the left and right pleurae. EMAPA:36001|MESH:D008482|UMLS:C0025066|MA:0003075|OpenCyc:Mx4rv2OKJ5wpEbGdrcN5Y29ycA|CALOHA:TS-2338|EFO:0003057|FMA:9826|NCIT:C12748|GAID:94 hp.json mediastinal part of chest http://purl.obolibrary.org/obo/UBERON_0003728 pheno_slim|efo_slim UBERON:0003729 biolink:AnatomicalEntity mouth mucosa A mucous membrane that lines the mouth. GAID:951|Wikipedia:Oral_mucosa|FMA:59660|MA:0002794|CALOHA:TS-0716|EMAPA:26937|MESH:D009061|BTO:0002860|UMLS:C0026639|NCIT:C77637 hp.json oral part of viscerocranial mucosa|mouth mucosa|buccal mucosa|oral mucosa|tunica mucosa oris|oral mucous membrane|tunica mucosa oris|mucosa of mouth|mouth organ mucosa|mucosal lining of mouth|mouth mucous membrane|tunica mucosa oris|mucous membrane of mouth http://purl.obolibrary.org/obo/UBERON_0003729 pheno_slim CHEBI:48578 biolink:ChemicalSubstance radical scavenger A role played by a substance that can react readily with, and thereby eliminate, radicals. hp.json free radical scavengers|free-radical scavenger http://purl.obolibrary.org/obo/CHEBI_48578 3_STAR UBERON:0003726 biolink:AnatomicalEntity thoracic nerve The twelve spinal nerves on each side of the thorax. They include eleven INTERCOSTAL NERVES and one subcostal nerve. Both sensory and motor, they supply the muscles and skin of the thoracic and abdominal walls. OpenCyc:Mx4rwSJp_ZwpEbGdrcN5Y29ycA|MESH:D013900|FMA:5860|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1725|GAID:857|SCTID:360498003|Wikipedia:Thoracic_nerves hp.json nervi thoracici|thoracic spinal nerve|nervi thoracici|pectoral nerve|nervus thoracis http://purl.obolibrary.org/obo/UBERON_0003726 UBERON:0003727 biolink:AnatomicalEntity intercostal nerve The intercostal nerves are the anterior divisions (rami anteriores; ventral divisions) of the thoracic spinal nerves from T1 to T11. Each nerve is connected with the adjoining ganglion of the sympathetic trunk by a gray and a white ramus communicans. The intercostal nerves are distributed chiefly to the thoracic pleura and abdominal peritoneum and differ from the anterior divisions of the other spinal nerves in that each pursues an independent course without plexus formation. The first two nerves supply fibers to the upper limb in addition to their thoracic branches; the next four are limited in their distribution to the parietes of the thorax; the lower five supply the parietes of the thorax and abdomen. The 7th intercostal nerve terminates at the xyphoid process, at the lower end of the sternum. The 10th intercostal nerve terminates at the umbilicus. The twelfth thoracic is distributed to the abdominal wall and groin. [WP,unvetted]. Wikipedia:Intercostal_nerves|GAID:858|MESH:D007367|SCTID:279568001|NCIT:C32825|UMLS:C1285089|EMAPA:18227|FMA:6028 hp.json nervi intercostales|anterior ramus of thoracic nerve|nervi intercostales|ramus anterior, nervus thoracicus|anterior ramus of thoracic spinal nerve|ventral ramus of thoracic spinal nerve|thoracic anterior ramus http://purl.obolibrary.org/obo/UBERON_0003727 UBERON:0003724 biolink:AnatomicalEntity musculocutaneous nerve A large branch of the brachial plexus supplying various parts of the upper arm (as flexor muscles) and forearm (as the skin). FMA:37064|MESH:D009138|GAID:844|OpenCyc:Mx4rvzp0l5wpEbGdrcN5Y29ycA hp.json casserio's nerve|nervus musculocutaneus http://purl.obolibrary.org/obo/UBERON_0003724 human_reference_atlas UBERON:0003725 biolink:AnatomicalEntity cervical nerve plexus An arrangement of nerve fibers, running from the spine that travels to the head and neck where it innervates skin and muscle. OpenCyc:Mx4rvkEE3JwpEbGdrcN5Y29ycA|BAMS:cep|FMA:5904|GAID:847|MESH:D002572 hp.json cervical plexus|plexus cervicalis|plexus cervicalis|cervical nerve plexus http://purl.obolibrary.org/obo/UBERON_0003725 human_reference_atlas HP:0032476 biolink:PhenotypicFeature Abnormal circulating vitamin B6 level An abnormal concentration of vitamin B6 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032476 GO:0035702 biolink:BiologicalProcess monocyte homeostasis The process of regulating the proliferation and elimination of monocytes such that the total number of monocytes within a whole or part of an organism is stable over time in the absence of an outside stimulus. hp.json http://purl.obolibrary.org/obo/GO_0035702 HP:0032475 biolink:PhenotypicFeature 6-layered lissencephaly hp.json http://purl.obolibrary.org/obo/HP_0032475 HP:0032478 biolink:PhenotypicFeature Lateral spinal meningocele Protrusion of the arachnoid and dura through spinal foramina. hp.json http://purl.obolibrary.org/obo/HP_0032478 HP:0032477 biolink:PhenotypicFeature Elevated circulating vitamin B6 level An abnormally increased concentration of vitamin B6 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032477 HP:0032472 biolink:PhenotypicFeature Abnormal urine urobilinogen level An abnormal concentration of urobilinogen in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032472 HP:0032471 biolink:PhenotypicFeature Focal polymicrogyria Polymicrogyria affecting one or multiple small areas of the cerebral cortex. hp.json http://purl.obolibrary.org/obo/HP_0032471 HP:0032473 biolink:PhenotypicFeature Decreased urine urobilinogen An abnormally reduced concentration of urobilinogen in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032473 CHEBI:36586 biolink:ChemicalSubstance carbonyl compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. hp.json carbonyl compounds http://purl.obolibrary.org/obo/CHEBI_36586 3_STAR CHEBI:36587 biolink:ChemicalSubstance organic oxo compound Organic compounds containing an oxygen atom, =O, doubly bonded to carbon or another element. hp.json oxo compounds|organic oxo compounds http://purl.obolibrary.org/obo/CHEBI_36587 3_STAR HP:0032479 biolink:PhenotypicFeature Preimplantation lethality It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development. hp.json Preimplantation embryonic lethality http://purl.obolibrary.org/obo/HP_0032479 GO:0035701 biolink:BiologicalProcess hematopoietic stem cell migration The orderly movement of a hematopoietic stem cell from one site to another. A hematopoietic stem cell is a cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. hp.json hemopoietic stem cell migration http://purl.obolibrary.org/obo/GO_0035701 HP:0032481 biolink:PhenotypicFeature Abnormal pituitary glycoprotein hormone alpha subunit level Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). hp.json http://purl.obolibrary.org/obo/HP_0032481 HP:0032480 biolink:PhenotypicFeature Beta-aminoisobutyric aciduria An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine. hp.json http://purl.obolibrary.org/obo/HP_0032480 UBERON:0003715 biolink:AnatomicalEntity splanchnic nerve The major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia. EMAPA:37959|Wikipedia:Splanchnic_nerves|FMA:5883|BAMS:spn|SCTID:264198001|MESH:D013153|GAID:800 hp.json visceral nerve|splanchnic nerves|visceral nerve http://purl.obolibrary.org/obo/UBERON_0003715 pheno_slim UBERON:0003716 biolink:AnatomicalEntity recurrent laryngeal nerve A branch of the vagus nerve that supplies motor function and sensation to the larynx (voice box). It travels within the endoneurium. It is the nerve of the 6th Branchial Arch. MESH:D012009|FMA:6246|SCTID:24227007|AAO:0010754|Wikipedia:Recurrent_laryngeal_nerve|GAID:804|VHOG:0001347 hp.json vagus X nerve recurrent laryngeal branch|ramus recurrens|recurrent nerve|recurrent nerve|nervus laryngeus recurrens|inferior laryngeal nerve|recurrent laryngeal nerve from vagus nerve|nervus laryngeus recurrens http://purl.obolibrary.org/obo/UBERON_0003716 UBERON:0003713 biolink:AnatomicalEntity splenic vein A vein arising from the splenic trabecular vein in the hilum of the spleen that drains into the portal vein. OpenCyc:Mx4rwCt0eZwpEbGdrcN5Y29ycA|UMLS:C0038001|FMA:14331|GAID:541|EMAPA:37226|MA:0002164|galen:SplenicVein|SCTID:278029005|NCIT:C33608|Wikipedia:Splenic_vein|MESH:D013162 hp.json lienal vein|lienal vein|vena lienalis|vena splenica|vena lienalis http://purl.obolibrary.org/obo/UBERON_0003713 human_reference_atlas UBERON:0003714 biolink:AnatomicalEntity neural tissue Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. SCTID:91728009|FMA:9642|AAO:0000325|GAID:609|MESH:D009417|UMLS:C0027757|EHDAA2:0003123|OpenCyc:Mx4rVmfYCsQ_QdeM_bFAeS8NRQ|AEO:0000123|NCIT:C13052 hp.json portion of neural tissue|nervous tissue|nerve tissue http://purl.obolibrary.org/obo/UBERON_0003714 HP:0032487 biolink:PhenotypicFeature Reduced fecal osmolality Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram. hp.json Reduced faecal osmolality http://purl.obolibrary.org/obo/HP_0032487 HP:0032486 biolink:PhenotypicFeature Elevated fecal osmolality Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram. hp.json Elevated faecal osmolality http://purl.obolibrary.org/obo/HP_0032486 CHEBI:48560 biolink:ChemicalSubstance dopaminergic agent A drug used for its effects on dopamine receptors, on the life cycle of dopamine, or on the survival of dopaminergic neurons. hp.json dopamine agent|dopamine drugs|dopamine drug|dopaminergic agents|dopamine agents http://purl.obolibrary.org/obo/CHEBI_48560 3_STAR HP:0032489 biolink:PhenotypicFeature Elevated fecal pH Abnormally high fecal pH, i.e., abnormal alkalinity of feces. hp.json Elevated faecal pH http://purl.obolibrary.org/obo/HP_0032489 HP:0032488 biolink:PhenotypicFeature Abnormal fecal pH Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline. hp.json Abnormal faecal pH http://purl.obolibrary.org/obo/HP_0032488 CHEBI:131604 biolink:ChemicalSubstance Mycoplasma genitalium metabolite Any bacterial metabolite produced during a metabolic reaction in Mycoplasma genitalium. hp.json Mycoplasma genitalium metabolites http://purl.obolibrary.org/obo/CHEBI_131604 3_STAR HP:0032483 biolink:PhenotypicFeature obsolete Abnormal fecal test result hp.json http://purl.obolibrary.org/obo/HP_0032483 HP:0032482 biolink:PhenotypicFeature Decreased pituitary glycoprotein hormone alpha subunit level An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). hp.json Decreased pituitary glycoprotein polypeptide alpha subunit level|Decreased pituitary glycoprotein alpha subunit level http://purl.obolibrary.org/obo/HP_0032482 HP:0032485 biolink:PhenotypicFeature Abnormal fecal osmolality Abnormal concentration of feces as assessed by the total number of solute particles per kilogram. hp.json Abnormal faecal osmolality http://purl.obolibrary.org/obo/HP_0032485 HP:0032484 biolink:PhenotypicFeature Elevated fecal sodium An elevated concentration of sodium in feces. hp.json Elevated faecal sodium http://purl.obolibrary.org/obo/HP_0032484 UBERON:0003723 biolink:AnatomicalEntity vestibular nerve The vestibular nerve is one of the two branches of the Vestibulocochlear nerve (the cochlear nerve being the other). It goes to the semicircular canals via the vestibular ganglion. It receives positional information. Axons of the vestibular nerve synapse in the vestibular nucleus on the lateral floor and wall of the fourth ventricle in the pons and medulla. It arises from bipolar cells in the vestibular ganglion, ganglion of Scarpa, which is situated in the upper part of the outer end of the internal auditory meatus. [WP,unvetted]. NCIT:C12820|MA:0001111|BAMS:vVIIIn|VHOG:0001181|MBA:413|FMA:53401|EHDAA2:0002200|OpenCyc:Mx4rvxAWX5wpEbGdrcN5Y29ycA|EMAPA:17803|DHBA:12869|EHDAA:3749|GAID:840|UMLS:C0042598|MESH:D014725 hp.json scarpa's ganglion|scarpas ganglion|scarpa ganglion|nervus vestibularis|vestibulocochlear nerve vestibular root|vestibulocochlear VIII nerve vestibular component|vestibular root of acoustic nerve|vestibular root of eighth cranial nerve http://purl.obolibrary.org/obo/UBERON_0003723 pheno_slim UBERON:0003721 biolink:AnatomicalEntity lingual nerve The lingual nerve is a branch of the mandibular nerve (CN V3), itself a branch of the trigeminal nerve, which supplies sensory innervation to the tongue. It also carries fibers from the facial nerve, which return taste information from the anterior two thirds of the tongue. MA:0001102|FMA:53218|BAMS:5lg|EMAPA:19168|SCTID:280260006|GAID:835|Wikipedia:Lingual_nerve|MESH:D008036 hp.json trigeminal V nerve lingual branch|trigeminal nerve lingual branch|lingual branch of trigeminal nerve http://purl.obolibrary.org/obo/UBERON_0003721 CHEBI:73541 biolink:ChemicalSubstance organic heterobicyclic ring A bicyclic organic group that contains both carbon and hetero atoms. hp.json organic heterobicyclic rings http://purl.obolibrary.org/obo/CHEBI_73541 3_STAR HP:0032490 biolink:PhenotypicFeature Decreased fecal pH Abnormally low fecal pH, i.e., abnormal acidity of feces. hp.json Decreased faecal pH http://purl.obolibrary.org/obo/HP_0032490 HP:0007490 biolink:PhenotypicFeature Linear arrays of macular hyperkeratoses in flexural areas UMLS:C1866031 hp.json http://purl.obolibrary.org/obo/HP_0007490 UBERON:0003709 biolink:AnatomicalEntity circle of Willis A circle of arteries that supply blood to the brain. The Circle of Willis comprises the following arteries: Anterior cerebral artery (left and right); Anterior communicating artery; Internal carotid artery (left and right); Posterior cerebral artery (left and right); Posterior communicating artery (left and right).The basilar artery and middle cerebral arteries, supplying the brain, are also considered part of the circle. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1468|EMAPA:37829|OpenCyc:Mx4rwSrCwJwpEbGdrcN5Y29ycA|GAID:486|MESH:D002941|SCTID:362047009|EHDAA:9758|Wikipedia:Circle_of_Willis|FMA:50454|EHDAA2:0000252 hp.json Willis circle|circulus arteriosus cerebri|arterial circle of Willis|cerebral arterial circle|arterial circle|circulus arteriosus cerebri|arterial circle http://purl.obolibrary.org/obo/UBERON_0003709 pheno_slim UBERON:0003706 biolink:AnatomicalEntity laryngeal vocal fold Either of two pairs of folds of mucous membrane projecting into the larynx. EMAPA:19181|MESH:D014827|GAID:344|NCIT:C12822|BTO:0005084|OpenCyc:Mx4rvVieepwpEbGdrcN5Y29ycA|FMA:55457|UMLS:C0042930 hp.json vocal chord|vocal band|plica vocalis|true vocal cord|vocal cord|vocal fold http://purl.obolibrary.org/obo/UBERON_0003706 pheno_slim HP:0032492 biolink:PhenotypicFeature Anti-myelin oligodendrocyte glycoprotein antibody positivity Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein. hp.json Anti-MOG antibody positivity http://purl.obolibrary.org/obo/HP_0032492 HP:0032491 biolink:PhenotypicFeature Increased circulating argininosuccinic acid An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032491 UBERON:0003707 biolink:AnatomicalEntity sinus of Valsalva One of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. MA:0003051|EMAPA:18625|UMLS:C0503361|NCIT:C33557|GAID:472|MESH:D012850|FMA:3745 hp.json Petit's sinus|sinus of Otto|sinus aortae|Petit sinus|aortic sinus|sinus aortae|sinus aorta|Valsalva sinus|sinus of Morgagni http://purl.obolibrary.org/obo/UBERON_0003707 pheno_slim UBERON:0003704 biolink:AnatomicalEntity intrahepatic bile duct Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct. UMLS:C0005401|NCIT:C12677|MA:0001630|GAID:287|MESH:D001653|ZFA:0005169|TAO:0005169|FMA:15766 hp.json bile duct intrahepatic part|intrahepatic biliary system http://purl.obolibrary.org/obo/UBERON_0003704 vertebrate_core|pheno_slim CHEBI:73558 biolink:ChemicalSubstance D3 vitamins A vitamin D that is calciol or its hydroxylated metabolites calcidiol and calcitriol. Calciol (also known as vitamin D3) acts as a hormone precursor, being hydroxylated in the liver to calcidiol (25-hydroxyvitamin D3), which is then further hydroxylated in the kidney to give calcitriol (1,25-dihydroxyvitamin D3), the active hormone. hp.json vitamin D3s|D3 vitamin http://purl.obolibrary.org/obo/CHEBI_73558 3_STAR UBERON:0003702 biolink:AnatomicalEntity inguinal canal The passage in the lower abdominal wall through which the spermatic cord in the male or the round ligament in the female, nerves and vessels pass from the pelvic cavity to the scrotum or labia majora, respectively. MESH:D007264|UMLS:C0021445|GAID:28|FMA:19928|EMAPA:37881|NCIT:C93029|BTO:0005576 hp.json canalis inguinalis http://purl.obolibrary.org/obo/UBERON_0003702 pheno_slim UBERON:0003703 biolink:AnatomicalEntity extrahepatic bile duct Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct. UMLS:C0206187|MESH:D017734|NCIT:C32573|GAID:281|FMA:14678|MA:0002659 hp.json extrahepatic biliary system|bile duct extrahepatic part http://purl.obolibrary.org/obo/UBERON_0003703 vertebrate_core|pheno_slim HP:0032497 biolink:PhenotypicFeature Reduced terminal:vellus ratio A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. hp.json http://purl.obolibrary.org/obo/HP_0032497 HP:0032499 biolink:PhenotypicFeature Giant neutrophil granules The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation. hp.json http://purl.obolibrary.org/obo/HP_0032499 CHEBI:24583 biolink:ChemicalSubstance hexitol hp.json hexitol|hexitols http://purl.obolibrary.org/obo/CHEBI_24583 3_STAR HP:0032493 biolink:PhenotypicFeature Increased circulating trypsinogen An abnormally high concentration of trypsinogen in the blood circulation. hp.json Increased immunoreactive trypsinogen http://purl.obolibrary.org/obo/HP_0032493 HP:0032496 biolink:PhenotypicFeature Elevated terminal:vellus ratio An increased proportion of terminal hairs compared to vellus hairs. hp.json http://purl.obolibrary.org/obo/HP_0032496 HP:0032495 biolink:PhenotypicFeature Abnormal terminal:vellus ratio A deviation from the normal proportion of terminal to vellus hairs. hp.json http://purl.obolibrary.org/obo/HP_0032495 UBERON:0003711 biolink:AnatomicalEntity brachiocephalic vein The left and right brachiocephalic veins in the upper chest are formed by the union of each corresponding internal jugular vein and subclavian vein. This is at the level of the sternoclavicular joint. These great vessels merge to form the superior vena cava. The brachiocephalic veins are the major veins returning blood to the superior vena cava. EHDAA:9868|OpenCyc:Mx4rvz3aUJwpEbGdrcN5Y29ycA|GAID:529|NCIT:C32816|UMLS:C0006095|FMA:4723|MESH:D016121|EHDAA2:0000182|galen:BrachiocephalicVein hp.json innominate trunk|innominate vein|venae anonyma|vena brachiocephalica|innominate veins|brachiocephalic venous tree|vena brachiocephalica|innomiate vein|innominate vein|innominate vein http://purl.obolibrary.org/obo/UBERON_0003711 human_reference_atlas UBERON:0003712 biolink:AnatomicalEntity cavernous sinus The cavernous sinus (or lateral sellar compartment), within the human head, is a large collection of thin-walled veins creating a cavity bordered by the temporal bone of the skull and the sphenoid bone, lateral to the sella turcica. GAID:532|OpenCyc:Mx4rwKAVGJwpEbGdrcN5Y29ycA|MESH:D002426|EMAPA:19059|UMLS:C0007473|FMA:50772|NCIT:C12690 hp.json cavernous sinuses|cavernus sinus vein|cavernous sinus syndrome|sinus cavernosus|cavernous|parasellar syndrome http://purl.obolibrary.org/obo/UBERON_0003712 human_reference_atlas HP:0007486 biolink:PhenotypicFeature Cavernous hemangioma of the face NCIT:C3086|UMLS:C1332863 hp.json http://purl.obolibrary.org/obo/HP_0007486 HP:0007489 biolink:PhenotypicFeature Diffuse telangiectasia Telangiectases (small dilated blood vessels) with a diffuse localization. SNOMEDCT_US:125279001|UMLS:C1265776 hp.json Diffuse telangiectases|Telangiectases, random body distribution http://purl.obolibrary.org/obo/HP_0007489 HP:0007488 biolink:PhenotypicFeature Diffuse skin atrophy UMLS:C4024863 hp.json http://purl.obolibrary.org/obo/HP_0007488 HP:0007483 biolink:PhenotypicFeature Depigmentation/hyperpigmentation of skin UMLS:C4024864 hp.json http://purl.obolibrary.org/obo/HP_0007483 HP:0007482 biolink:PhenotypicFeature Generalized papillary lesions UMLS:C4024865 hp.json Generalised papillary lesions http://purl.obolibrary.org/obo/HP_0007482 HP:0007485 biolink:PhenotypicFeature Absence of subcutaneous fat Lack of subcutaneous adipose tissue. UMLS:C4024855|UMLS:C0241267 hp.json Lack of fatty tissue below the skin|Absent fat below the skin|General absence of subcutaneous fat http://purl.obolibrary.org/obo/HP_0007485 CHEBI:24599 biolink:ChemicalSubstance histidine derivative An amino acid derivative resulting from reaction of histidine at the amino group or the carboxy group, or from the replacement of any hydrogen of histidine by a heteroatom. The definition normally excludes peptides containing alanine residues. hp.json histidine derivatives http://purl.obolibrary.org/obo/CHEBI_24599 3_STAR CHEBI:48540 biolink:ChemicalSubstance beta-adrenergic drug Any of the drugs that act on beta-adrenergic receptors. hp.json beta-adrenergic drugs http://purl.obolibrary.org/obo/CHEBI_48540 3_STAR UBERON:0003700 biolink:AnatomicalEntity temporomandibular joint A synovial joint of the jaw that connects the mandible to the temporal bone. NCIT:C32888|MA:0002899|MESH:D013704|UMLS:C0039493|GAID:272|FMA:54832|EMAPA:19196|BTO:0003674 hp.json squamosal-dentary joint|dentary-squamosal joint|TMJ|temperomandibular joint|tempero-mandibular joint|temporomandibular|articulatio temporomandibularis|temporomandibular articulation|temporomandibular joint|temporalmandibular joint http://purl.obolibrary.org/obo/UBERON_0003700 pheno_slim PR:P08920 biolink:Protein T-cell surface antigen CD2 (mouse) A CD2 molecule that is encoded in the genome of mouse. UniProtKB:P08920 hp.json mCD2|CD2 (mouse)|LFA-3 receptor (mouse)|T-cell surface antigen T11/Leu-5 (mouse)|LFA-2 (mouse)|Ly-37|Cd2|lymphocyte antigen 37 (mouse) http://purl.obolibrary.org/obo/PR_P08920 UBERON:0003701 biolink:AnatomicalEntity calcaneal tendon The Achilles tendon is a tendon of the posterior leg. It serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone. FMA:51061|GAID:277|MA:0002993|MESH:D000125|NCIT:C32043|UMLS:C0001074|EMAPA:35853|OpenCyc:Mx4rvVjNX5wpEbGdrcN5Y29ycA hp.json tendo calcaneus|Achilles' tendon|Achilles tendon|calcaneal tendon|Achille's tendon|tendo Achillis http://purl.obolibrary.org/obo/UBERON_0003701 pheno_slim HP:0007497 biolink:PhenotypicFeature Focal friction-related palmoplantar hyperkeratosis Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction. UMLS:C1835654 hp.json Hyperkeratosis, palmoplantar, focal friction-related http://purl.obolibrary.org/obo/HP_0007497 HP:0007499 biolink:PhenotypicFeature Recurrent staphylococcal infections Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections. UMLS:C4024862 hp.json Recurrent staphylococcal infections http://purl.obolibrary.org/obo/HP_0007499 HP:0007494 biolink:PhenotypicFeature Discrete 2 to 5-mm hyper- and hypopigmented macules UMLS:C1851552 hp.json http://purl.obolibrary.org/obo/HP_0007494 HP:0007495 biolink:PhenotypicFeature Prematurely aged appearance UMLS:C1857656 hp.json Precociously senile appearance|Prematurely aged appearance http://purl.obolibrary.org/obo/HP_0007495 HP:0032432 biolink:PhenotypicFeature Increased HDL3c concentration An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. hp.json http://purl.obolibrary.org/obo/HP_0032432 HP:0032431 biolink:PhenotypicFeature Decreased HDL3b concentration A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. hp.json http://purl.obolibrary.org/obo/HP_0032431 HP:0032434 biolink:PhenotypicFeature Delayed umbilical cord separation Separation of the umbilical cord occurs at an abnormally late timepoint. hp.json Delayed separation of umbilical cord http://purl.obolibrary.org/obo/HP_0032434 UBERON:0015757 biolink:AnatomicalEntity heterogeneous tissue FMA:62798 hp.json portion of heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0015757 HP:0032433 biolink:PhenotypicFeature Decreased HDL3c concentration A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. hp.json http://purl.obolibrary.org/obo/HP_0032433 UBERON:0015751 biolink:AnatomicalEntity inferior tarsal muscle A smooth muscle tissue that is part of a inferior eyelid tarsus. FMA:49059 hp.json http://purl.obolibrary.org/obo/UBERON_0015751 HP:0032430 biolink:PhenotypicFeature Increased HDL3b concentration An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. hp.json http://purl.obolibrary.org/obo/HP_0032430 CHEBI:36544 biolink:ChemicalSubstance sialodiosylceramide A ganglioside in which the number of residues in the oligosaccharide chain is two. hp.json sialodiosylceramides http://purl.obolibrary.org/obo/CHEBI_36544 3_STAR HP:0032439 biolink:PhenotypicFeature Airborn particle hypersensitivity An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen. hp.json http://purl.obolibrary.org/obo/HP_0032439 HP:0032436 biolink:PhenotypicFeature Abnormal C-reactive protein level Any deviation from the normal concentration of C-reactive protein in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032436 HP:0032435 biolink:PhenotypicFeature Neonatal omphalitis An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. hp.json Umbilical cord stump infection|Omphalitis http://purl.obolibrary.org/obo/HP_0032435 GO:0060711 biolink:BiologicalProcess labyrinthine layer development The process in which the labyrinthine layer of the placenta progresses, from its formation to its mature state. hp.json http://purl.obolibrary.org/obo/GO_0060711 HP:0032438 biolink:PhenotypicFeature Platelet anisocytosis Abnormally increased variability in the size of platelets. hp.json http://purl.obolibrary.org/obo/HP_0032438 HP:0032437 biolink:PhenotypicFeature Reduced C-reactive protein level An abnormal decrease of the C-reactive protein level in serum. hp.json http://purl.obolibrary.org/obo/HP_0032437 UBERON:0001114 biolink:AnatomicalEntity right lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. EHDAA:4001|VHOG:0001424|NCIT:C33481|ZFA:0005173|TAO:0005173|EHDAA2:0001008|UMLS:C0227481|FMA:13362|EMAPA:18311|MA:0000363 hp.json liver right lobe|lobus hepaticus dexter|right liver lobe|lobus hepatis dexter|second lobe|gall bladder lobe|right hepatic lobe|2nd lobe http://purl.obolibrary.org/obo/UBERON_0001114 uberon_slim|vertebrate_core GO:0060713 biolink:BiologicalProcess labyrinthine layer morphogenesis The process in which the labyrinthine layer of the placenta is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0060713 UBERON:0001113 biolink:AnatomicalEntity lobe of liver Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. EMAPA:18306|UMLS:C0447541|FMA:13361|NCIT:C49579|MA:0000360 hp.json hepatic lobe|liver lobe|lobus hepatis http://purl.obolibrary.org/obo/UBERON_0001113 GO:0060714 biolink:BiologicalProcess labyrinthine layer formation The developmental process pertaining to the initial formation of the labyrinthine layer of the placenta. hp.json http://purl.obolibrary.org/obo/GO_0060714 GO:0060716 biolink:BiologicalProcess labyrinthine layer blood vessel development The process whose specific outcome is the progression of a blood vessel of the labyrinthine layer of the placenta over time, from its formation to the mature structure. The embryonic vessels grow through the layer to come in close contact with the maternal blood supply. hp.json http://purl.obolibrary.org/obo/GO_0060716 UBERON:0001115 biolink:AnatomicalEntity left lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. EHDAA2:0001000|VHOG:0001423|EMAPA:18307|ZFA:0005172|NCIT:C32965|TAO:0005172|UMLS:C0227486|FMA:13363|EHDAA:3995|MA:0000361 hp.json lobus hepaticus sinister|liver left lobe|lobus hepatis sinister|left hepatic lobe|left liver lobe http://purl.obolibrary.org/obo/UBERON_0001115 uberon_slim|vertebrate_core GO:0060717 biolink:BiologicalProcess chorion development The biological process whose specific outcome is the progression of a chorion from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The chorion is an extraembryonic membrane. hp.json http://purl.obolibrary.org/obo/GO_0060717 GO:0060718 biolink:BiologicalProcess chorionic trophoblast cell differentiation The process in which relatively unspecialized cells of the ectoplacental cone acquire specialized structural and/or functional features that characterize chorionic trophoblasts. These cells will migrate towards the spongiotrophoblast layer and give rise to syncytiotrophoblasts of the labyrinthine layer. hp.json http://purl.obolibrary.org/obo/GO_0060718 GO:0060719 biolink:BiologicalProcess chorionic trophoblast cell development The process whose specific outcome is the progression of the chorionic trophoblast over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. hp.json http://purl.obolibrary.org/obo/GO_0060719 UBERON:0001112 biolink:AnatomicalEntity latissimus dorsi muscle The latissimus dorsi is the larger, flat, dorso-lateral muscle on the trunk, posterior to the arm, and partly covered by the trapezius on its median dorsal region. [WP,unvetted]. NCIT:C33150|FMA:13357|EFO:0003067|EHDAA2:0000932|UMLS:C0224362|EHDAA:8307|EMAPA:18178|MA:0002331|VHOG:0000930 hp.json latissimi dorsi|dorsal latissimus muscle|musculus latissimus dorsi|musculus latissimus dorsi|latissimus dorsi http://purl.obolibrary.org/obo/UBERON_0001112 efo_slim|uberon_slim|pheno_slim UBERON:0001111 biolink:AnatomicalEntity intercostal muscle The respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib. UMLS:C0021724|MESH:D007366|NCIT:C32824|GAID:159|FMA:13354|OpenCyc:Mx4rwQo8QJwpEbGdrcN5Y29ycA|EMAPA:18521|MA:0002324|EHDAA:5988|EHDAA2:0000841|VHOG:0000903|BTO:0005281|EFO:0001368|MA:0003165 hp.json musculus intercostalis|respiratory muscle|rib muscle|intercostales http://purl.obolibrary.org/obo/UBERON_0001111 efo_slim|uberon_slim|pheno_slim HP:0032443 biolink:PhenotypicFeature Past medical history In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc. hp.json http://purl.obolibrary.org/obo/HP_0032443 HP:0032442 biolink:PhenotypicFeature Blood group O ABO phenotype O, corresponding to the genotype OO. hp.json http://purl.obolibrary.org/obo/HP_0032442 HP:0032445 biolink:PhenotypicFeature Pulmonary cyst A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. hp.json Lung cyst http://purl.obolibrary.org/obo/HP_0032445 HP:0032444 biolink:PhenotypicFeature Status post organ transplantation The affected individual has received an organ transplant previous to the current medical encounter. hp.json s/p organ transplantation http://purl.obolibrary.org/obo/HP_0032444 HP:0032441 biolink:PhenotypicFeature Blood group AB ABO phenotype AB, corresponding to the genotype AB. hp.json http://purl.obolibrary.org/obo/HP_0032441 HP:0032440 biolink:PhenotypicFeature Blood group B ABO phenotype B, corresponding to the genotype BO or BB. hp.json http://purl.obolibrary.org/obo/HP_0032440 HP:0032447 biolink:PhenotypicFeature Pulmonary bleb A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura. hp.json http://purl.obolibrary.org/obo/HP_0032447 HP:0032446 biolink:PhenotypicFeature Pulmonary bulla Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. hp.json Pulmonary bullae http://purl.obolibrary.org/obo/HP_0032446 HP:0032449 biolink:PhenotypicFeature Abnormal dermoepidermal hemidesmosome morphology An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. hp.json http://purl.obolibrary.org/obo/HP_0032449 HP:0032448 biolink:PhenotypicFeature Achlorhydria A condition in which production of hydrochloric acid in the stomach is absent. hp.json http://purl.obolibrary.org/obo/HP_0032448 UBERON:0001103 biolink:AnatomicalEntity diaphragm A thin musculomebranous barrier that separates the abdominal and thoracic cavities. Often used for breathing control. MA:0001904|UMLS:C0011980|EHDAA2:0003495|BTO:0000341|EMAPA:17701|EFO:0000937|Wikipedia:Thoracid_diaphragm|NCIT:C12702|GAID:158|CALOHA:TS-0198|MAT:0000502|FMA:13295|SCTID:181614006|MESH:D003964|OpenCyc:Mx4rvVivz5wpEbGdrcN5Y29ycA|VHOG:0000713|EV:0100376 hp.json midriff|diaphragm muscle|diaphragm of thorax|phren|thoracic diaphragm http://purl.obolibrary.org/obo/UBERON_0001103 pheno_slim|efo_slim|uberon_slim|organ_slim UBERON:0001105 biolink:AnatomicalEntity clavicle bone A paired dermal or endochondral bone that is part of the pectoral girdle. The clavicle may be in contact with the interclavicle or coracoid and forms an attachment site for pectoral musculature. [PHENOSCAPE:ad]. NCIT:C12695|AAO:0000761|UMLS:C0008913|GAID:182|MFMO:0000047|MA:0001329|OpenCyc:Mx4rvVjijZwpEbGdrcN5Y29ycA|MESH:D002968|FMA:13321|galen:Clavicle|EMAPA:18721|VHOG:0000849|VSAO:0005031 hp.json clavicula|clavicle|collar bone|collarbone http://purl.obolibrary.org/obo/UBERON_0001105 pheno_slim|uberon_slim GO:0060706 biolink:BiologicalProcess cell differentiation involved in embryonic placenta development The process in which a relatively unspecialized cell acquires specialized features of the embryonic placenta. hp.json http://purl.obolibrary.org/obo/GO_0060706 UBERON:0001100 biolink:AnatomicalEntity pectoralis minor The Pectoralis minor is a thin, triangular muscle, situated at the upper part of the chest, beneath the Pectoralis major. [WP,unvetted]. NCIT:C33285|EHDAA:8313|UMLS:C0224347|EMAPA:18180|EHDAA2:0001425|VHOG:0000902|MA:0002355|FMA:13109 hp.json musculus pectoralis minor|supracoracoideus muscle|pectoralis minor muscle|supracoracoideus http://purl.obolibrary.org/obo/UBERON_0001100 uberon_slim|organ_slim|pheno_slim HP:0032454 biolink:PhenotypicFeature Labial melanotic macule Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture. hp.json Labial melanotic freckle http://purl.obolibrary.org/obo/HP_0032454 HP:0032453 biolink:PhenotypicFeature Abnormal lip pigmentation Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal. hp.json http://purl.obolibrary.org/obo/HP_0032453 HP:0032456 biolink:PhenotypicFeature Unlayered lissencephaly A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. hp.json http://purl.obolibrary.org/obo/HP_0032456 HP:0032455 biolink:PhenotypicFeature Reduced granulocyte CD18 level Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0032455 HP:0032450 biolink:PhenotypicFeature Positive blood arsenic test Detection of arsenic in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032450 HP:0032452 biolink:PhenotypicFeature Oral melanoacanthoma Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions. hp.json http://purl.obolibrary.org/obo/HP_0032452 HP:0032451 biolink:PhenotypicFeature Oral melanotic macule Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented. hp.json Melanotic macule of oral mucosa http://purl.obolibrary.org/obo/HP_0032451 CHEBI:36520 biolink:ChemicalSubstance oligoglycosylceramide hp.json http://purl.obolibrary.org/obo/CHEBI_36520 1_STAR HP:0032458 biolink:PhenotypicFeature Narrowing of medullary canal A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. hp.json Narrowing of bone marrow canal|Narrowing of bone medullary canal|Medullary cavity obliteration|Narrowing of the marrow cavity http://purl.obolibrary.org/obo/HP_0032458 CHEBI:36526 biolink:ChemicalSubstance acidic glycosphingolipid hp.json http://purl.obolibrary.org/obo/CHEBI_36526 1_STAR HP:0032457 biolink:PhenotypicFeature 2-3-layered lissencephaly Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity. hp.json http://purl.obolibrary.org/obo/HP_0032457 HP:0032459 biolink:PhenotypicFeature Abnormal phosphoribosylpyrophosphate synthetase level Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. hp.json http://purl.obolibrary.org/obo/HP_0032459 HP:0032465 biolink:PhenotypicFeature Bladder trabeculation Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface. hp.json Trabecular bladder http://purl.obolibrary.org/obo/HP_0032465 HP:0032464 biolink:PhenotypicFeature Ureteral hypoplasia Underdevelopment of the ureter. hp.json Ureter hypoplasia|Hypoplasia of the ureter http://purl.obolibrary.org/obo/HP_0032464 HP:0032467 biolink:PhenotypicFeature Past obstetric history Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies. hp.json Maternal medical history http://purl.obolibrary.org/obo/HP_0032467 HP:0032466 biolink:PhenotypicFeature Aplasia of the olfactory bulb Lack of formation (congenital absence) of the olfactory bulb. hp.json Olfactory bulb aplasia|Aplastic olfactory bulb http://purl.obolibrary.org/obo/HP_0032466 HP:0032461 biolink:PhenotypicFeature obsolete Tiger-tail banding hp.json http://purl.obolibrary.org/obo/HP_0032461 HP:0032460 biolink:PhenotypicFeature Decreased phosphoribosylpyrophosphate synthetase level Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. hp.json http://purl.obolibrary.org/obo/HP_0032460 HP:0032463 biolink:PhenotypicFeature Reduced circulating fibronectin level A reduction below the normal concentration of fibronectin the the blood circulation. hp.json Decreased plasma fibronectin http://purl.obolibrary.org/obo/HP_0032463 HP:0032462 biolink:PhenotypicFeature Increased circulating palmitate level An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032462 HP:0032469 biolink:PhenotypicFeature Anti-asialoglycoprotein receptor antibody positivity Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032469 HP:0032468 biolink:PhenotypicFeature History of stillbirth One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation). hp.json http://purl.obolibrary.org/obo/HP_0032468 GO:0060722 biolink:BiologicalProcess cell proliferation involved in embryonic placenta development The multiplication or reproduction of cells, resulting in the expansion of the population in the embryonic placenta. hp.json http://purl.obolibrary.org/obo/GO_0060722 UBERON:0015717 biolink:AnatomicalEntity smooth muscle tissue layer of ejaculatory duct A smooth muscle tissue that is part of a ejaculatory duct. FMA:19372|EMAPA:32289 hp.json muscle layer of ejaculatory duct http://purl.obolibrary.org/obo/UBERON_0015717 UBERON:0015716 biolink:AnatomicalEntity anal canal epithelium An epithelium that is part of a anal canal. EMAPA:18835|FMA:17511 hp.json anal canal epithelium|epithelium of anal canal http://purl.obolibrary.org/obo/UBERON_0015716 human_reference_atlas GO:0060723 biolink:BiologicalProcess regulation of cell proliferation involved in embryonic placenta development Any process that modulates the rate, frequency, or extent of cell proliferation involved in embryonic placenta development. hp.json http://purl.obolibrary.org/obo/GO_0060723 PATO:0001973 biolink:NamedThing cuspidate A shape quality inhering in a bearer by virtue of the bearer's being tapering gradually into a rigid point. hp.json http://purl.obolibrary.org/obo/PATO_0001973 value_slim PATO:0001977 biolink:NamedThing angular A shape quality inhering in a bearer by virtue of the bearer's having at least one salient angle on the margin. hp.json angulate http://purl.obolibrary.org/obo/PATO_0001977 value_slim HP:0007429 biolink:PhenotypicFeature Few cafe-au-lait spots The presence of two to five cafe-au-lait macules. UMLS:C4024881 hp.json http://purl.obolibrary.org/obo/HP_0007429 HP:0007428 biolink:PhenotypicFeature Telangiectasia of the oral mucosa Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. UMLS:C4024882 hp.json Telangiectasia of the oral mucous membrane|Angioectasia of the oral mucosa|Angioectasia of the oral mucous membrane|Spider veins of the oral mucosa http://purl.obolibrary.org/obo/HP_0007428 HP:0007425 biolink:PhenotypicFeature Hyperextensible skin of face UMLS:C4024883 hp.json Hyperelastic face skin|Stretchable face skin http://purl.obolibrary.org/obo/HP_0007425 HP:0007427 biolink:PhenotypicFeature Reticulated skin pigmentation UMLS:C3279601|UMLS:C3279575 hp.json Reticulate skin pigmentation|Reticular pigmentation pattern http://purl.obolibrary.org/obo/HP_0007427 HP:0007421 biolink:PhenotypicFeature Telangiectases of the cheeks Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. UMLS:C3554587 hp.json Telangiectasia on the cheeks http://purl.obolibrary.org/obo/HP_0007421 HP:0007420 biolink:PhenotypicFeature Spontaneous hematomas Spontaneous development of hematomas (hematoma) or bruises without significant trauma. UMLS:C1697453 hp.json http://purl.obolibrary.org/obo/HP_0007420 GO:0035779 biolink:BiologicalProcess angioblast cell differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of an angioblast cell. Angioblasts are one of the two products formed from hemangioblast cells (the other being pluripotent hemopoietic stem cells). hp.json angioblastic mesenchymal cell differentiation http://purl.obolibrary.org/obo/GO_0035779 HP:0032401 biolink:PhenotypicFeature Aspartic aciduria A increased concentration of aspartic acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032401 HP:0032400 biolink:PhenotypicFeature Dysgyria with thickened cortex An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria. hp.json http://purl.obolibrary.org/obo/HP_0032400 PATO:0001987 biolink:NamedThing saccular A structural quality inhering in a bearer by virtue of the bearer's having a three dimensional cavity with a narrow or no opening, and often containing an anatomical substance. hp.json sacular http://purl.obolibrary.org/obo/PATO_0001987 value_slim PATO:0001988 biolink:NamedThing quadrangular A shape quality inhering in a bearer by virtue of the bearer's having four angles and four sides. hp.json http://purl.obolibrary.org/obo/PATO_0001988 value_slim HP:0032407 biolink:PhenotypicFeature Bilateral perisylvian polymicrogyria A type of perisylvian polymicrogyria that affects both sides of the brain. hp.json http://purl.obolibrary.org/obo/HP_0032407 HP:0007439 biolink:PhenotypicFeature Generalized keratosis follicularis UMLS:C4024879 hp.json Generalised keratosis follicularis http://purl.obolibrary.org/obo/HP_0007439 HP:0032406 biolink:PhenotypicFeature Unilateral perisylvian polymicrogyria A type of perisylvian polymicrogyria that largely affects one side of the brain. hp.json http://purl.obolibrary.org/obo/HP_0032406 HP:0032409 biolink:PhenotypicFeature Subcortical band heterotopia A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum. hp.json http://purl.obolibrary.org/obo/HP_0032409 HP:0032408 biolink:PhenotypicFeature Breast mass A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician. hp.json Breast lump http://purl.obolibrary.org/obo/HP_0032408 HP:0032403 biolink:PhenotypicFeature Asparaginuria An increased concentration of asparagine in the urine. hp.json Increased level of asparagine in urine|Increased urine asparagine level http://purl.obolibrary.org/obo/HP_0032403 HP:0007436 biolink:PhenotypicFeature Hair-nail ectodermal dysplasia UMLS:C4024880 hp.json http://purl.obolibrary.org/obo/HP_0007436 HP:0007435 biolink:PhenotypicFeature obsolete Diffuse palmoplantar keratoderma hp.json http://purl.obolibrary.org/obo/HP_0007435 HP:0007438 biolink:PhenotypicFeature Mottled pigmentation of the trunk and proximal extremities UMLS:C1851551 hp.json http://purl.obolibrary.org/obo/HP_0007438 HP:0032405 biolink:PhenotypicFeature Increased urinary phosphoserine level An increased level of phosphoserine in the urine. hp.json Increased level of phosphoserine in urine http://purl.obolibrary.org/obo/HP_0032405 HP:0007437 biolink:PhenotypicFeature Multiple cutaneous leiomyomas The presence of multiple leiomyomas of the skin. MSH:C535516|NCIT:C3157|UMLS:C1708350 hp.json http://purl.obolibrary.org/obo/HP_0007437 HP:0032404 biolink:PhenotypicFeature Testicular mass An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer. hp.json http://purl.obolibrary.org/obo/HP_0032404 HP:0007432 biolink:PhenotypicFeature Intermittent generalized erythematous papular rash UMLS:C2749995 hp.json Intermittent generalised erythematous papular rash http://purl.obolibrary.org/obo/HP_0007432 HP:0007431 biolink:PhenotypicFeature Congenital ichthyosiform erythroderma An ichthyosiform abnormality of the skin with congenital onset. SNOMEDCT_US:254156001|MSH:D016113|SNOMEDCT_US:268282005|UMLS:C0079583 hp.json Congenital ichthyosis|Ichthyosis, congenital http://purl.obolibrary.org/obo/HP_0007431 HP:0007434 biolink:PhenotypicFeature Plaque-like facial hemangioma Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology. UMLS:C1847884 hp.json Hemangioma, facial, plaque-like http://purl.obolibrary.org/obo/HP_0007434 HP:0007430 biolink:PhenotypicFeature Generalized edema Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. SNOMEDCT_US:271808008|UMLS:C1850534 hp.json Generalised oedema|Generalised tissue oedema|Generalized tissue edema http://purl.obolibrary.org/obo/HP_0007430 HP:0032410 biolink:PhenotypicFeature Bilateral generalized polymicrogyria Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter. hp.json Bilateral generalised polymicrogyria|Diffuse polymicrogyria http://purl.obolibrary.org/obo/HP_0032410 PATO:0001997 biolink:NamedThing decreased amount An amount which is relatively low. hp.json decreased|subnumerary|reduced|present in fewer numbers in organism|decreased number http://purl.obolibrary.org/obo/PATO_0001997 value_slim HP:0032412 biolink:PhenotypicFeature Anterior predominant subcortical band heterotopia Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes. hp.json Subcortical band heterotopia anterior predominant|Frontal subcortical band heterotopia http://purl.obolibrary.org/obo/HP_0032412 HP:0032411 biolink:PhenotypicFeature Posterior predominant subcortical band heterotopia Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex. hp.json Occipital subcortical band heterotopia|Subcortical band heterotopia posterior predominant http://purl.obolibrary.org/obo/HP_0032411 PATO:0001995 biolink:NamedThing organismal quality A quality that inheres in an entire organism or part of an organism. hp.json http://purl.obolibrary.org/obo/PATO_0001995 PATO:0001999 biolink:NamedThing lacks parts or has fewer parts of type The bearer of this quality has_part < n of the indicated entity type, where n is the normal amount for a comparable organism. Note that the bearer of the quality is the whole, not the part. Formally: If a bearer entity e has fewer parts of type X at time t, then the number of instances x of X at t such that x part_of e is < n, where n is either the normal number for comparable entities, or n is stated explicitly. This case includes the limit case, where the bearer lacks all parts of the specified type. hp.json loss of http://purl.obolibrary.org/obo/PATO_0001999 relational_slim GO:0008152 biolink:BiologicalProcess metabolic process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. Wikipedia:Metabolism hp.json metabolism resulting in cell growth|metabolism|multicellular organism metabolic process|metabolic process resulting in cell growth|single-organism metabolic process http://purl.obolibrary.org/obo/GO_0008152 goslim_chembl|goslim_metagenomics|gocheck_do_not_manually_annotate|goslim_pir|goslim_plant HP:0032418 biolink:PhenotypicFeature Abnormal HDL subfraction concentration An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm). hp.json http://purl.obolibrary.org/obo/HP_0032418 HP:0007407 biolink:PhenotypicFeature Excessive skin wrinkling on dorsum of hands and fingers UMLS:C1837467 hp.json Excessive skin wrinkling on back of hands and fingers http://purl.obolibrary.org/obo/HP_0007407 HP:0007406 biolink:PhenotypicFeature Hyperpigmentation of eyelids UMLS:C0854438|UMLS:C0155211|SNOMEDCT_US:41115008|UMLS:C4280440|MSH:C562400 hp.json Dark eyelids|Brown eyelids|Pigmentation of eyelids http://purl.obolibrary.org/obo/HP_0007406 HP:0032417 biolink:PhenotypicFeature Periglomerular fibrosis Circumferential fibrosis in the interstitium surrounding Bowman's capsule PMID:32866505 hp.json Periglomerular fibrotic thickening http://purl.obolibrary.org/obo/HP_0032417 GO:0008150 biolink:BiologicalProcess biological_process A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. Wikipedia:Biological_process hp.json single-organism process|physiological process|biological process|single organism process http://purl.obolibrary.org/obo/GO_0008150 goslim_aspergillus|goslim_chembl|goslim_metagenomics|goslim_yeast|goslim_candida|goslim_generic|goslim_pombe|goslim_pir|goslim_plant HP:0007409 biolink:PhenotypicFeature obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs hp.json http://purl.obolibrary.org/obo/HP_0007409 PR:P55284 biolink:Protein cadherin-5 (mouse) A cadherin-5 that is encoded in the genome of mouse. UniProtKB:P55284 hp.json mCDH5|Cdh5|VE-cadherin (mouse)|CD144 (mouse)|vascular endothelial cadherin (mouse) http://purl.obolibrary.org/obo/PR_P55284 HP:0032419 biolink:PhenotypicFeature Abnormal HDL2a concentration Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. hp.json http://purl.obolibrary.org/obo/HP_0032419 HP:0007408 biolink:PhenotypicFeature Tegumentary leishmaniasis susceptibility Increased susceptibility to infection by the protozan parasite of the genus Leishmania. UMLS:C2748501 hp.json http://purl.obolibrary.org/obo/HP_0007408 HP:0032414 biolink:PhenotypicFeature Hydroxylysinuria The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. hp.json http://purl.obolibrary.org/obo/HP_0032414 PATO:0001992 biolink:NamedThing cellularity An organismal quality inhering in a bearer by virtue of the bearer's consisting cells. hp.json http://purl.obolibrary.org/obo/PATO_0001992 scalar_slim|attribute_slim HP:0007403 biolink:PhenotypicFeature Hypertrophy of skin of soles UMLS:C1867617 hp.json Thick skin of soles http://purl.obolibrary.org/obo/HP_0007403 PATO:0001993 biolink:NamedThing multicellular A cellularity quality inhering in a bearer by virtue of the bearer's consisting of more than one cell. hp.json http://purl.obolibrary.org/obo/PATO_0001993 value_slim HP:0032413 biolink:PhenotypicFeature Diffuse subcortical band heterotopia Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain. hp.json Subcortical band heterotopia diffuse http://purl.obolibrary.org/obo/HP_0032413 HP:0007402 biolink:PhenotypicFeature Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines UMLS:C4024886 hp.json http://purl.obolibrary.org/obo/HP_0007402 HP:0032416 biolink:PhenotypicFeature Retinal microaneurysm A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells. hp.json http://purl.obolibrary.org/obo/HP_0032416 HP:0007404 biolink:PhenotypicFeature Nonepidermolytic palmoplantar hyperkeratosis Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis. UMLS:C1833030|MSH:C563422 hp.json Nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/HP_0007404 HP:0032415 biolink:PhenotypicFeature Parasagittal parieto-occipital polymicrogyria Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex. hp.json http://purl.obolibrary.org/obo/HP_0032415 GO:0035767 biolink:BiologicalProcess endothelial cell chemotaxis The directed movement of an endothelial cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). hp.json http://purl.obolibrary.org/obo/GO_0035767 HP:0007401 biolink:PhenotypicFeature Macular atrophy Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. UMLS:C1288283|SNOMEDCT_US:238828009|MSH:D057088 hp.json http://purl.obolibrary.org/obo/HP_0007401 HP:0007400 biolink:PhenotypicFeature Irregular hyperpigmentation UMLS:C1860236 hp.json http://purl.obolibrary.org/obo/HP_0007400 HP:0032421 biolink:PhenotypicFeature Decreased HDL2a concentration A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. hp.json http://purl.obolibrary.org/obo/HP_0032421 HP:0032420 biolink:PhenotypicFeature Increased HDL2a concentration An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. hp.json http://purl.obolibrary.org/obo/HP_0032420 HP:0032423 biolink:PhenotypicFeature Decreased HDL2b concentration A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. hp.json http://purl.obolibrary.org/obo/HP_0032423 HP:0032422 biolink:PhenotypicFeature Abnormal HDL2b concentration Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm. hp.json http://purl.obolibrary.org/obo/HP_0032422 HP:0007418 biolink:PhenotypicFeature Alopecia totalis Loss of all scalp hair. UMLS:C0263504|SNOMEDCT_US:19754005 hp.json Total alopecia http://purl.obolibrary.org/obo/HP_0007418 HP:0032429 biolink:PhenotypicFeature Decreased HDL3a concentration A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. hp.json http://purl.obolibrary.org/obo/HP_0032429 HP:0032428 biolink:PhenotypicFeature Increased HDL3a concentration An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. hp.json http://purl.obolibrary.org/obo/HP_0032428 HP:0007417 biolink:PhenotypicFeature Discoid lupus rash Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. MSH:D008179|SNOMEDCT_US:238927000|SNOMEDCT_US:200938002|UMLS:C0024138 hp.json Discoid lupus erythematosus http://purl.obolibrary.org/obo/HP_0007417 HP:0032425 biolink:PhenotypicFeature Abnormal HDL3a concentration Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. hp.json http://purl.obolibrary.org/obo/HP_0032425 HP:0007414 biolink:PhenotypicFeature Neonatal wrinkled skin of hands and feet UMLS:C4024884 hp.json Wrinkled skin of hands and feet in newborn http://purl.obolibrary.org/obo/HP_0007414 HP:0032424 biolink:PhenotypicFeature Increased HDL2b concentration An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. hp.json http://purl.obolibrary.org/obo/HP_0032424 HP:0007413 biolink:PhenotypicFeature Nevus flammeus of the forehead Naevus flammeus localised in the skin of the forehead. UMLS:C1848850 hp.json Port-wine stain on forehead http://purl.obolibrary.org/obo/HP_0007413 HP:0032427 biolink:PhenotypicFeature Abnormal HDL3c concentration Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. hp.json http://purl.obolibrary.org/obo/HP_0032427 HP:0032426 biolink:PhenotypicFeature Abnormal HDL3b concentration Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. hp.json http://purl.obolibrary.org/obo/HP_0032426 HP:0007410 biolink:PhenotypicFeature Palmoplantar hyperhidrosis An abnormally increased perspiration on palms and soles. SNOMEDCT_US:403375001|UMLS:C1274743|MSH:C563185 hp.json Hyperhidrosis of palms and soles|Excessive sweating of palms and soles http://purl.obolibrary.org/obo/HP_0007410 HP:0007412 biolink:PhenotypicFeature Macular hyperpigmented dermopathy UMLS:C4024885 hp.json http://purl.obolibrary.org/obo/HP_0007412 HP:0007411 biolink:PhenotypicFeature Hypoplastic-absent sebaceous glands UMLS:C1844617 hp.json http://purl.obolibrary.org/obo/HP_0007411 PATO:0001938 biolink:NamedThing rhomboid A spheroid quality inhering in a bearer by virtue of the bearer's being oval and a little angular in the middle. hp.json http://purl.obolibrary.org/obo/PATO_0001938 value_slim HP:0007470 biolink:PhenotypicFeature Periarticular subcutaneous nodules Subcutaneous nodules that are located in the vicinity of joints. UMLS:C3806306 hp.json http://purl.obolibrary.org/obo/HP_0007470 PATO:0001937 biolink:NamedThing spatulate A shape quality inhering in a bearer by virtue of the bearer's being oblong, with the lower end very much attenuated. hp.json spathulate http://purl.obolibrary.org/obo/PATO_0001937 value_slim HP:0007469 biolink:PhenotypicFeature Palmoplantar cutis gyrata Cutis gyrata of palms and soles. UMLS:C1851797 hp.json Cutis gyrata of palms and soles http://purl.obolibrary.org/obo/HP_0007469 HP:0007468 biolink:PhenotypicFeature Perifollicular hyperkeratosis Increased amount of keratin (visible as white scales) surrounding hair follicles. UMLS:C4024867 hp.json http://purl.obolibrary.org/obo/HP_0007468 hposlim_core HP:0007465 biolink:PhenotypicFeature Honeycomb palmoplantar hyperkeratosis Abnormal thickening of the skin on the palms and soles with an honeycomb pattern. UMLS:C1866032 hp.json http://purl.obolibrary.org/obo/HP_0007465 HP:0007464 biolink:PhenotypicFeature Sparse facial hair Reduced number or density of facial hair. UMLS:C2017869 hp.json Sparse facial hair http://purl.obolibrary.org/obo/HP_0007464 HP:0007466 biolink:PhenotypicFeature Midfrontal capillary hemangioma UMLS:C1859339 hp.json http://purl.obolibrary.org/obo/HP_0007466 HP:0007461 biolink:PhenotypicFeature Hemangiomatosis SNOMEDCT_US:254785001|UMLS:C1384590|SNOMEDCT_US:47669001 hp.json http://purl.obolibrary.org/obo/HP_0007461 HP:0007460 biolink:PhenotypicFeature Autoamputation of digits UMLS:C1852289 hp.json http://purl.obolibrary.org/obo/HP_0007460 HP:0007462 biolink:PhenotypicFeature Bitot spots of the conjunctiva Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot. UMLS:C0423178|UMLS:C4024868|SNOMEDCT_US:246871006 hp.json Bitot's spots http://purl.obolibrary.org/obo/HP_0007462 HP:0007481 biolink:PhenotypicFeature Hyperpigmented nevi UMLS:C0746889 hp.json http://purl.obolibrary.org/obo/HP_0007481 HP:0007480 biolink:PhenotypicFeature Decreased sweating due to autonomic dysfunction UMLS:C1868527 hp.json http://purl.obolibrary.org/obo/HP_0007480 PATO:0001948 biolink:NamedThing furrowed A grooved texture quality inhering in a bearer by virtue of the bearer's being marked by two or more parallel channels. hp.json fluted http://purl.obolibrary.org/obo/PATO_0001948 value_slim GO:0035735 biolink:BiologicalProcess intraciliary transport involved in cilium assembly The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. Reactome:R-HSA-5620924.2 hp.json intraflagellar transport involved in cilium morphogenesis|intraflagellar transport|intraciliary transport involved in cilium morphogenesis http://purl.obolibrary.org/obo/GO_0035735 GO:0035736 biolink:BiologicalProcess cell proliferation involved in compound eye morphogenesis The multiplication or reproduction of cells, resulting in the expansion of a cell population that contributes to compound eye morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_0035736 PATO:0001940 biolink:NamedThing gigantic A size quality inhering in a bearer by virtue of the bearer's being many folds greater relative to the normal average. hp.json giant http://purl.obolibrary.org/obo/PATO_0001940 value_slim GO:0008134 biolink:MolecularActivity transcription factor binding Binding to a transcription factor, a protein required to initiate or regulate transcription. hp.json TF binding|transcription regulator binding http://purl.obolibrary.org/obo/GO_0008134 gocheck_do_not_annotate|goslim_drosophila|goslim_chembl|goslim_metagenomics|goslim_yeast|goslim_agr HP:0007479 biolink:PhenotypicFeature Congenital nonbullous ichthyosiform erythroderma The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. SNOMEDCT_US:268245001|SNOMEDCT_US:267372009|UMLS:C0079154|SNOMEDCT_US:205550003|MSH:D017490 hp.json Ichthyosis lammellaris|Nonbullous congenital ichthyosiform erythroderma|Collodion baby|Nonbullous congenital ichthyosis|Congenital lamellar ichthyosis|Congenital non-bullous ichthyosis|Ichthyosis, congenital, nonblistering http://purl.obolibrary.org/obo/HP_0007479 HP:0007476 biolink:PhenotypicFeature Anhidrotic ectodermal dysplasia MSH:D004476|SNOMEDCT_US:7731005|UMLS:C1706004 hp.json http://purl.obolibrary.org/obo/HP_0007476 HP:0007475 biolink:PhenotypicFeature Congenital bullous ichthyosiform erythroderma An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. SNOMEDCT_US:239071005|MSH:D017488|SNOMEDCT_US:254167000|UMLS:C0079153 hp.json Bullous congenital ichthyosiform erythroderma|Epidermolytic hyperkeratosis http://purl.obolibrary.org/obo/HP_0007475 HP:0007477 biolink:PhenotypicFeature Abnormal dermatoglyphics An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. UMLS:C0432333|SNOMEDCT_US:83145004 hp.json Dermatoglyphic abnormalities|Abnormal fingerprints http://purl.obolibrary.org/obo/HP_0007477 hposlim_core HP:0007471 biolink:PhenotypicFeature Axillary and groin hyperpigmentation and hypopigmentation UMLS:C4024866 hp.json http://purl.obolibrary.org/obo/HP_0007471 HP:0007473 biolink:PhenotypicFeature Crusting erythematous dermatitis UMLS:C1868496 hp.json http://purl.obolibrary.org/obo/HP_0007473 PATO:0001958 biolink:NamedThing increased variability of size A variability of size which is relatively high. hp.json high variability of size http://purl.obolibrary.org/obo/PATO_0001958 value_slim GO:0008104 biolink:BiologicalProcess protein localization Any process in which a protein is transported to, or maintained in, a specific location. hp.json asymmetric protein localization|establishment and maintenance of protein localization|protein localisation|establishment and maintenance of asymmetric protein localization|asymmetric protein localisation http://purl.obolibrary.org/obo/GO_0008104 goslim_drosophila PATO:0001956 biolink:NamedThing variability of size A variability quality inhering in a bearer by virtue of whether the bearer exhibits size variation or change. hp.json http://purl.obolibrary.org/obo/PATO_0001956 attribute_slim PATO:0001957 biolink:NamedThing decreased variability of size A variability of size which is relatively low. hp.json low variability of size http://purl.obolibrary.org/obo/PATO_0001957 value_slim PATO:0001955 biolink:NamedThing cuneate A shape quality inhering in a bearer by virtue of the bearer's being narrowly triangular, wider at the apex and tapering toward the base. hp.json wedge-shaped http://purl.obolibrary.org/obo/PATO_0001955 value_slim CHEBI:131619 biolink:ChemicalSubstance C27-steroid A steroid compound with a structure based on a 27-carbon (cholestane) skeleton. hp.json C27-steroids http://purl.obolibrary.org/obo/CHEBI_131619 3_STAR HP:0007447 biolink:PhenotypicFeature Diffuse palmoplantar hyperkeratosis Diffuse abnormal thickening of the skin on the palms and soles. UMLS:C4021575|MSH:D015776 hp.json Hyperkeratosis, diffuse palmoplantar|Diffuse palmoplantar keratoderma http://purl.obolibrary.org/obo/HP_0007447 HP:0007446 biolink:PhenotypicFeature Palmoplantar blistering A type of blistering that affects the skin of the palms of the hands and the soles of the feet. UMLS:C4024876 hp.json http://purl.obolibrary.org/obo/HP_0007446 HP:0007449 biolink:PhenotypicFeature Confetti-like hypopigmented macules UMLS:C1851705 hp.json http://purl.obolibrary.org/obo/HP_0007449 HP:0007448 biolink:PhenotypicFeature Hyperkeratosis over edematous areas UMLS:C1835253 hp.json http://purl.obolibrary.org/obo/HP_0007448 HP:0007443 biolink:PhenotypicFeature Partial albinism Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. SNOMEDCT_US:6479008|UMLS:C0080024|MSH:D016116|SNOMEDCT_US:718122005 hp.json Partial absent skin pigmentation|Congenital partial albinism on face, trunk, or limbs|Congenital partial leucoderma http://purl.obolibrary.org/obo/HP_0007443 HP:0007441 biolink:PhenotypicFeature Hyperpigmented/hypopigmented macules UMLS:C4024877 hp.json http://purl.obolibrary.org/obo/HP_0007441 HP:0007440 biolink:PhenotypicFeature Generalized hyperpigmentation UMLS:C4024878 hp.json Generalised hyperpigmentation http://purl.obolibrary.org/obo/HP_0007440 HP:0007458 biolink:PhenotypicFeature Focal hyperextensible skin UMLS:C4024870 hp.json http://purl.obolibrary.org/obo/HP_0007458 HP:0007457 biolink:PhenotypicFeature Prominent veins on trunk Prominent thoracic and abdominal veins. UMLS:C4024871 hp.json http://purl.obolibrary.org/obo/HP_0007457 CHEBI:131621 biolink:ChemicalSubstance C19-steroid A steroid compound with a structure based on a 19-carbon (androstane) skeleton. hp.json C19-steroids http://purl.obolibrary.org/obo/CHEBI_131621 3_STAR HP:0007459 biolink:PhenotypicFeature Generalized anhidrosis UMLS:C4024869 hp.json Generalized anhydrosis|Generalised inability to sweat|Generalized inability to sweat|Generalised anhidrosis|Generalised anhydrosis http://purl.obolibrary.org/obo/HP_0007459 HP:0007453 biolink:PhenotypicFeature Flexural lichenification Lichenification affecting primarily flexural areas of the skin. UMLS:C4024873 hp.json http://purl.obolibrary.org/obo/HP_0007453 HP:0007456 biolink:PhenotypicFeature Progressive reticulate hyperpigmentation UMLS:C4024872 hp.json http://purl.obolibrary.org/obo/HP_0007456 HP:0007455 biolink:PhenotypicFeature Adermatoglyphia UMLS:C1852150|MSH:C565010 hp.json http://purl.obolibrary.org/obo/HP_0007455 HP:0007450 biolink:PhenotypicFeature Increased groin pigmentation with raindrop depigmentation UMLS:C4024875 hp.json http://purl.obolibrary.org/obo/HP_0007450 HP:0007452 biolink:PhenotypicFeature Midface capillary hemangioma UMLS:C1849377 hp.json Midfacial capillary hemangioma http://purl.obolibrary.org/obo/HP_0007452 HP:0007451 biolink:PhenotypicFeature Ipsilateral lack of facial sweating Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome. UMLS:C4024874 hp.json http://purl.obolibrary.org/obo/HP_0007451 GO:0072698 biolink:BiologicalProcess protein localization to microtubule cytoskeleton A cellular protein localization process in which a protein is transported to, or maintained at, a location within the microtubule cytoskeleton. hp.json protein localisation to microtubule cytoskeleton http://purl.obolibrary.org/obo/GO_0072698 GO:0072697 biolink:BiologicalProcess protein localization to cell cortex A process in which a protein is transported to, or maintained in, the cell cortex. hp.json protein localisation to cell cortex http://purl.obolibrary.org/obo/GO_0072697 GO:0045087 biolink:BiologicalProcess innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Wikipedia:Innate_immune_system hp.json nonspecific immune response|innate immunity http://purl.obolibrary.org/obo/GO_0045087 PATO:0001908 biolink:NamedThing multinucleate A nucleate quality inhering in a bearer by virtue of the bearer's having more than one nucleus. hp.json http://purl.obolibrary.org/obo/PATO_0001908 value_slim|mpath_slim GO:0045088 biolink:BiologicalProcess regulation of innate immune response Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. hp.json http://purl.obolibrary.org/obo/GO_0045088 GO:0045089 biolink:BiologicalProcess positive regulation of innate immune response Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. hp.json stimulation of innate immune response|up-regulation of innate immune response|upregulation of innate immune response|up regulation of innate immune response http://purl.obolibrary.org/obo/GO_0045089 UBERON:0037191 biolink:AnatomicalEntity wall of membranous labyrinth FMA:79837 hp.json membranous labyrinth wall http://purl.obolibrary.org/obo/UBERON_0037191 GO:0045095 biolink:NamedThing keratin filament hp.json http://purl.obolibrary.org/obo/GO_0045095 GO:0070051 biolink:MolecularActivity fibrinogen binding Binding to fibrinogen, a highly soluble hexameric glycoprotein complex that is found in blood plasma and is converted to fibrin by thrombin in the coagulation cascade. hp.json http://purl.obolibrary.org/obo/GO_0070051 OBO:MAXO_0000003 biolink:NamedThing diagnostic procedure Any procedure or test to diagnose a disease or disorder. NCIT:C18020|OGMS:0000104 hp.json diagnostic technique procedure|diagnostic testing http://purl.obolibrary.org/obo/MAXO_0000003 GO:0070050 biolink:BiologicalProcess neuron cellular homeostasis The cellular homeostatic process that preserves a neuron in a stable, differentiated functional and structural state. hp.json neuron maintenance http://purl.obolibrary.org/obo/GO_0070050 UBERON:0013191 biolink:AnatomicalEntity ovarian cortex The layer of the ovarian stroma lying immediately beneath the tunica albuginea, composed of connective tissue cells and fibers, among which are scattered primary and secondary (antral) follicles in various stages of development; the cortex varies in thickness according to the age of the individual, becoming thinner with advancing years; included in the follicles are the cumulus oophorus, membrana granulosa (and the granulosa cells inside it), corona radiata, zona pellucida, and primary oocyte; the zona pellucida, theca of follicle, antrum and liquor folliculi are also contained in the follicle; also in the cortex is the corpus luteum derived from the follicles. EMAPA:37927|FMA:18613|NCIT:C33243|UMLS:C0227878 hp.json cortex ovarii (zona parenchymatosa)|cortex of ovary http://purl.obolibrary.org/obo/UBERON_0013191 pheno_slim|human_reference_atlas UBERON:0013192 biolink:AnatomicalEntity ovarian medulla Highly vascular stroma found in the center of the ovary that forms from embryonic mesenchyme and contains blood vessels, lymphatic vessels, and nerves; this stroma forms the tissue of the hilum by which the ovarian ligament is attached, and through which the blood vessels enter; it does not contain any ovarian follicles. EMAPA:37928|NCIT:C33245|UMLS:C0227879|FMA:18616 hp.json medulla of ovary|medulla ovarii (zona vasculosa)|zona vasculosa of Waldeyer http://purl.obolibrary.org/obo/UBERON_0013192 pheno_slim PATO:0001919 biolink:NamedThing mislocalised dorsally A positional quality inhering in a bearer by virtue of the bearer's being positioned towards the back or upper surface of an organism. hp.json http://purl.obolibrary.org/obo/PATO_0001919 value_slim PATO:0001910 biolink:NamedThing folded A surface feature shape quality inhering in a bearer by virtue of the bearer's one part being layered over another connected part. hp.json http://purl.obolibrary.org/obo/PATO_0001910 value_slim OBO:MAXO_0000006 biolink:NamedThing clinical laboratory procedure Any procedure that involves testing or manipulating a sample of blood, urine, or other body substance in a laboratory setting for diagnosis, treatment, or therapy. NCIT:C25294 hp.json clinical testing|clinical lab testing|clinical laboratory testing|lab testing http://purl.obolibrary.org/obo/MAXO_0000006 OBO:MAXO_0000005 biolink:NamedThing clinical imaging procedure Any technology or method that aids in the visualization of any biological process, cell, tissue or organ for use in screening, diagnosis, surgical procedures or therapy. NCIT:C17369 hp.json imaging procedure|medical imaging|imaging technique|therapeutic imaging procedure|therapeutic imaging technique http://purl.obolibrary.org/obo/MAXO_0000005 PATO:0001928 biolink:NamedThing blistered A texture quality inhering in a bearer by virtue of a local accumulation of fluid underneath the surface of the bearer. hp.json blistering http://purl.obolibrary.org/obo/PATO_0001928 value_slim|mpath_slim PATO:0001925 biolink:NamedThing surface feature shape A surface shape quality inhering in a bearer by virtue of the bearer's shape of features present on its surface or outer shell. hp.json http://purl.obolibrary.org/obo/PATO_0001925 attribute_slim PATO:0001923 biolink:NamedThing mislocalised laterally A positional quality inhering in a bearer by virtue of the bearer's being positioned towards the side of an organism. hp.json http://purl.obolibrary.org/obo/PATO_0001923 value_slim PATO:0001921 biolink:NamedThing mislocalised anteriorly A positional quality inhering in a bearer by virtue of the bearer's being positioned towards the front of an organism. hp.json http://purl.obolibrary.org/obo/PATO_0001921 value_slim PATO:0001922 biolink:NamedThing mislocalised posteriorly A positional quality inhering in a bearer by virtue of the bearer's being positioned towards the rear of an organism. hp.json http://purl.obolibrary.org/obo/PATO_0001922 value_slim GO:0033059 biolink:BiologicalProcess cellular pigmentation The deposition or aggregation of coloring matter in a cell. hp.json http://purl.obolibrary.org/obo/GO_0033059 UBERON:0037144 biolink:AnatomicalEntity wall of heart Wall of organ which has as its parts the endocardium, myocardium , epicardium, and the cardiac septum, surrounded by the pericardial sac proper and is continuous with the walls of the systemic and pulmonary arterial and venous trees. FMA:7274 hp.json cardiac wall http://purl.obolibrary.org/obo/UBERON_0037144 GO:0008089 biolink:BiologicalProcess anterograde axonal transport The directed movement of organelles or molecules along microtubules from the cell body toward the cell periphery in nerve cell axons. hp.json anterograde axon cargo transport http://purl.obolibrary.org/obo/GO_0008089 goslim_synapse GO:0008088 biolink:BiologicalProcess axo-dendritic transport The directed movement of organelles or molecules along microtubules in neuron projections. Wikipedia:Axoplasmic_transport hp.json axon cargo transport|axoplasmic transport|axonal transport http://purl.obolibrary.org/obo/GO_0008088 goslim_synapse GO:0008092 biolink:MolecularActivity cytoskeletal protein binding Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). hp.json http://purl.obolibrary.org/obo/GO_0008092 goslim_flybase_ribbon|goslim_drosophila|goslim_chembl|goslim_mouse|goslim_agr|goslim_generic|goslim_yeast GO:0008090 biolink:BiologicalProcess retrograde axonal transport The directed movement of organelles or molecules along microtubules from the cell periphery toward the cell body in nerve cell axons. hp.json retrograde axon cargo transport http://purl.obolibrary.org/obo/GO_0008090 goslim_synapse GO:0033048 biolink:BiologicalProcess negative regulation of mitotic sister chromatid segregation Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis. hp.json http://purl.obolibrary.org/obo/GO_0033048 GO:0033047 biolink:BiologicalProcess regulation of mitotic sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis. hp.json http://purl.obolibrary.org/obo/GO_0033047 GO:0033046 biolink:BiologicalProcess negative regulation of sister chromatid segregation Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation. hp.json http://purl.obolibrary.org/obo/GO_0033046 GO:0033045 biolink:BiologicalProcess regulation of sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation. hp.json http://purl.obolibrary.org/obo/GO_0033045 GO:0033044 biolink:BiologicalProcess regulation of chromosome organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome. hp.json regulation of chromosome organisation|regulation of chromosome organization and biogenesis http://purl.obolibrary.org/obo/GO_0033044 GO:0033043 biolink:BiologicalProcess regulation of organelle organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. hp.json regulation of organelle organization and biogenesis|regulation of organelle organisation http://purl.obolibrary.org/obo/GO_0033043 goslim_yeast GO:0070062 biolink:CellularComponent extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. hp.json exosome|extracellular vesicular exosome http://purl.obolibrary.org/obo/GO_0070062 GO:0033031 biolink:BiologicalProcess positive regulation of neutrophil apoptotic process Any process that activates or increases the frequency, rate, or extent of neutrophil apoptotic process. hp.json activation of neutrophil apoptosis|up-regulation of neutrophil apoptosis|positive regulation of neutrophil apoptosis|upregulation of neutrophil apoptosis|up regulation of neutrophil apoptosis|stimulation of neutrophil apoptosis http://purl.obolibrary.org/obo/GO_0033031 GO:0033030 biolink:BiologicalProcess negative regulation of neutrophil apoptotic process Any process that stops, prevents, or reduces the frequency, rate, or extent of neutrophil apoptotic process. hp.json downregulation of neutrophil apoptosis|negative regulation of neutrophil apoptosis|down regulation of neutrophil apoptosis|inhibition of neutrophil apoptosis|down-regulation of neutrophil apoptosis http://purl.obolibrary.org/obo/GO_0033030 GO:0033037 biolink:BiologicalProcess polysaccharide localization Any process in which a polysaccharide is transported to, or maintained in, a specific location. hp.json polysaccharide localisation http://purl.obolibrary.org/obo/GO_0033037 GO:0033036 biolink:BiologicalProcess macromolecule localization Any process in which a macromolecule is transported to, or maintained in, a specific location. hp.json macromolecule localisation http://purl.obolibrary.org/obo/GO_0033036 goslim_flybase_ribbon GO:0033034 biolink:BiologicalProcess positive regulation of myeloid cell apoptotic process Any process that activates or increases the frequency, rate, or extent of myeloid cell apoptotic process. hp.json up regulation of myeloid cell apoptosis|stimulation of myeloid cell apoptosis|up-regulation of myeloid cell apoptosis|activation of myeloid cell apoptosis|positive regulation of myeloid cell apoptosis|upregulation of myeloid cell apoptosis http://purl.obolibrary.org/obo/GO_0033034 GO:0033033 biolink:BiologicalProcess negative regulation of myeloid cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate, or extent of a myeloid cell apoptotic process. hp.json downregulation of myeloid cell apoptosis|negative regulation of myeloid cell apoptosis|down regulation of myeloid cell apoptosis|inhibition of myeloid cell apoptosis|down-regulation of myeloid cell apoptosis http://purl.obolibrary.org/obo/GO_0033033 GO:0033032 biolink:BiologicalProcess regulation of myeloid cell apoptotic process Any process that modulates the frequency, rate, or extent of myeloid cell apoptotic process. hp.json regulation of myeloid cell apoptosis http://purl.obolibrary.org/obo/GO_0033032 GO:0070093 biolink:BiologicalProcess negative regulation of glucagon secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of glucagon. hp.json down-regulation of glucagon secretion|downregulation of glucagon secretion|down regulation of glucagon secretion|inhibition of glucagon secretion http://purl.obolibrary.org/obo/GO_0070093 GO:0070094 biolink:BiologicalProcess positive regulation of glucagon secretion Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon. hp.json upregulation of glucagon secretion|stimulation of glucagon secretion|up regulation of glucagon secretion|activation of glucagon secretion|up-regulation of glucagon secretion http://purl.obolibrary.org/obo/GO_0070094 GO:0070091 biolink:BiologicalProcess glucagon secretion The regulated release of glucagon from secretory granules in the A (alpha) cells of the pancreas (islets of Langerhans). hp.json http://purl.obolibrary.org/obo/GO_0070091 GO:0070092 biolink:BiologicalProcess regulation of glucagon secretion Any process that modulates the frequency, rate or extent of the regulated release of glucagon. hp.json http://purl.obolibrary.org/obo/GO_0070092 GO:0033029 biolink:BiologicalProcess regulation of neutrophil apoptotic process Any process that modulates the frequency, rate, or extent of neutrophil apoptotic process. hp.json regulation of neutrophil apoptosis http://purl.obolibrary.org/obo/GO_0033029 GO:0008066 biolink:MolecularActivity glutamate receptor activity Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. hp.json http://purl.obolibrary.org/obo/GO_0008066 NCBITaxon:33317 biolink:OrganismalEntity Protostomia GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_33317 GO:0033028 biolink:BiologicalProcess myeloid cell apoptotic process Any apoptotic process in a myeloid cell, a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. hp.json myeloid cell apoptosis|apoptosis of myeloid cells http://purl.obolibrary.org/obo/GO_0033028 GO:0070085 biolink:BiologicalProcess glycosylation The covalent attachment and further modification of carbohydrate residues to a substrate molecule. Wikipedia:Glycosylation hp.json http://purl.obolibrary.org/obo/GO_0070085 GO:0008078 biolink:BiologicalProcess mesodermal cell migration The orderly movement of mesodermal cells from one site to another. hp.json mesoderm cell migration http://purl.obolibrary.org/obo/GO_0008078 HGNC:8582 biolink:Gene PAH (human) A protein coding gene PAH in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8582 GO:0033014 biolink:BiologicalProcess tetrapyrrole biosynthetic process The chemical reactions and pathways leading to the formation of tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. hp.json tetrapyrrole anabolism|tetrapyrrole synthesis|tetrapyrrole biosynthesis|tetrapyrrole formation http://purl.obolibrary.org/obo/GO_0033014 GO:0033013 biolink:BiologicalProcess tetrapyrrole metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. hp.json tetrapyrrole metabolism http://purl.obolibrary.org/obo/GO_0033013 prokaryote_subset|goslim_pombe UBERON:0015791 biolink:AnatomicalEntity digit connective tissue A portion of connective tissue that is part of a digit. EMAPA:37290|MA:0003123 hp.json http://purl.obolibrary.org/obo/UBERON_0015791 UBERON:0015790 biolink:AnatomicalEntity autopod skin A zone of skin that is part of a autopod region. EMAPA:32723|MA:0003120 hp.json paw skin http://purl.obolibrary.org/obo/UBERON_0015790 UBERON:0013136 biolink:AnatomicalEntity vein of lip A vein that drains a lip. SCTID:367664002 hp.json lip vein|labial vein|vena labialis|labial vein of face http://purl.obolibrary.org/obo/UBERON_0013136 CHEBI:36508 biolink:ChemicalSubstance glycotriaosylceramide hp.json http://purl.obolibrary.org/obo/CHEBI_36508 1_STAR UBERON:0013139 biolink:AnatomicalEntity ligament of liver A nonskeletal ligament that is part of a liver. FMA:15820|NCIT:C32997|UMLS:C0230238 hp.json liver ligament|hepatic ligament http://purl.obolibrary.org/obo/UBERON_0013139 UBERON:0013135 biolink:AnatomicalEntity interdental plate The interdental plate refers to the bone-filled mesial-distal region between the teeth. hp.json http://purl.obolibrary.org/obo/UBERON_0013135 UBERON:0015796 biolink:AnatomicalEntity liver blood vessel A blood vessel that is part of a liver. MA:0003137|EMAPA:35498 hp.json hepatic blood vessel http://purl.obolibrary.org/obo/UBERON_0015796 UBERON:0001152 biolink:AnatomicalEntity cystic duct The tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct. MA:0000355|NCIT:C32421|EHDAA2:0000333|FMA:14539|EHDAA:3045|ZFA:0005166|OpenCyc:Mx4rveBeC5wpEbGdrcN5Y29ycA|TAO:0005166|GAID:290|VHOG:0000213|galen:CysticDuct|EMAPA:16841|MESH:D003549|UMLS:C0010672 hp.json ductus cysticus http://purl.obolibrary.org/obo/UBERON_0001152 vertebrate_core|pheno_slim|uberon_slim GO:0060632 biolink:BiologicalProcess regulation of microtubule-based movement Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins. hp.json http://purl.obolibrary.org/obo/GO_0060632 PR:000010379 biolink:Protein alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase A protein that is a translation product of the human MGAT2 gene or a 1:1 ortholog thereof. hp.json N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II|GNT-II|mannoside acetylglucosaminyltransferase 2|beta-1,2-N-acetylglucosaminyltransferase II|GlcNAc-T II|MGAT2 http://purl.obolibrary.org/obo/PR_000010379 UBERON:0001158 biolink:AnatomicalEntity descending colon The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon. EFO:0000845|EMAPA:35285|MA:0001542|MAT:0000313|CALOHA:TS-2010|NCIT:C12268|UMLS:C0227389|MESH:D044683|galen:DescendingColon|MIAA:0000313|OpenCyc:Mx4rwHsNhpwpEbGdrcN5Y29ycA|BTO:0000641|FMA:14547 hp.json colon descendens http://purl.obolibrary.org/obo/UBERON_0001158 uberon_slim|efo_slim|human_reference_atlas UBERON:0001159 biolink:AnatomicalEntity sigmoid colon The part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity. galen:SigmoidColon|EFO:0000846|MAT:0000314|CALOHA:TS-2044|Wikipedia:Sigmoid_colon|BTO:0000645|SCTID:362166007|EMAPA:36391|MIAA:0000314|NCIT:C33550|MESH:D012809|UMLS:C0682612|FMA:14548|NCIT:C12384|UMLS:C0227391|OpenCyc:Mx4rwHX_-5wpEbGdrcN5Y29ycA hp.json sigmoid flexure|sigmoid colon|colon sigmoideum|colon sigmoideum|pelvic colon http://purl.obolibrary.org/obo/UBERON_0001159 uberon_slim|human_reference_atlas|efo_slim UBERON:0001155 biolink:AnatomicalEntity colon A portion of the large intestine before it becomes the rectum. In mammals, the colon is the most part of the large intestine, excluding the vermiform appendix, the rectum and the anal canal. MA:0000335|MAT:0000526|XAO:0000243|MESH:D003106|AAO:0010400|VHOG:0000648|UMLS:C0009368|ZFA:0000706|EV:0100079|EMAPA:18939|BTO:0000269|GAID:309|TAO:0000706|SCTID:302508007|OpenCyc:Mx4rvgLEM5wpEbGdrcN5Y29ycA|Wikipedia:Colon_(anatomy)|MAP:0000001|NCIT:C12382|EFO:0000361|CALOHA:TS-0158|FMA:14543|galen:Colon hp.json posterior intestine|large bowel|hindgut http://purl.obolibrary.org/obo/UBERON_0001155 vertebrate_core|pheno_slim|efo_slim|uberon_slim CHEBI:24533 biolink:ChemicalSubstance heterodetic cyclic peptide A heterodetic cyclic peptide is a peptide consisting only of amino-acid residues, but in which the linkages forming the ring are not solely peptide bonds; one or more is an isopeptide, disulfide, ester, or other bond. hp.json peptido ciclico heterodetico|heterodetic cyclic peptides|heterodetic cyclic peptide|peptide cyclique heterodetique http://purl.obolibrary.org/obo/CHEBI_24533 3_STAR CHEBI:24532 biolink:ChemicalSubstance organic heterocyclic compound A cyclic compound having as ring members atoms of carbon and at least of one other element. hp.json organic heterocyclic compounds|organic heterocycle http://purl.obolibrary.org/obo/CHEBI_24532 3_STAR GO:1901738 biolink:BiologicalProcess regulation of vitamin A metabolic process Any process that modulates the frequency, rate or extent of vitamin A metabolic process. hp.json regulation of vitamin A metabolism http://purl.obolibrary.org/obo/GO_1901738 UBERON:0001139 biolink:AnatomicalEntity common iliac vein A vein that drains the pelvis and lower limbs into the inferior vena cava. galen:CommonIliacVein|UMLS:C0226758|FMA:14333|EMAPA:17874|NCIT:C32359|OpenCyc:Mx4rv92CGZwpEbGdrcN5Y29ycA|MA:0002143 hp.json common iliac venous tree|vena iliaca communis http://purl.obolibrary.org/obo/UBERON_0001139 human_reference_atlas|uberon_slim UBERON:0015788 biolink:AnatomicalEntity olfactory apparatus chamber An anatomical chamber that is part of the olfactory apparatus, consisting of cavity walls (nasal epithelium and mucosal layers) and the space bounded anteriorly by the nares and posteriorly by the choanae, when these structures are present. FMA:265136 hp.json http://purl.obolibrary.org/obo/UBERON_0015788 UBERON:0013126 biolink:AnatomicalEntity vein of abdomen A vein that is part of a abdomen. SCTID:281473003 hp.json abdominal vein http://purl.obolibrary.org/obo/UBERON_0013126 grouping_class UBERON:0015787 biolink:AnatomicalEntity upper respiratory conduit Any anatomical conduit which is part of the upper respiratory tract. FMA:265132 hp.json respiratory conduit http://purl.obolibrary.org/obo/UBERON_0015787 UBERON:0015789 biolink:AnatomicalEntity cranial or facial muscle MA:0000579|EMAPA:25133 hp.json craniofacial muscle|cranial/facial muscle|cranial-facial muscle|cranio-facial muscle http://purl.obolibrary.org/obo/UBERON_0015789 grouping_class GO:1901731 biolink:BiologicalProcess positive regulation of platelet aggregation Any process that activates or increases the frequency, rate or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. hp.json up-regulation of thrombocyte aggregation|positive regulation of blood platelet aggregation|up regulation of thrombocyte aggregation|up regulation of blood platelet aggregation|upregulation of platelet aggregation|positive regulation of thrombocyte aggregation|up-regulation of blood platelet aggregation|activation of blood platelet aggregation|up regulation of platelet aggregation|upregulation of thrombocyte aggregation|activation of thrombocyte aggregation|up-regulation of platelet aggregation|activation of platelet aggregation|upregulation of blood platelet aggregation http://purl.obolibrary.org/obo/GO_1901731 UBERON:0013121 biolink:AnatomicalEntity proximal epiphysis of phalanx of pes FMA:32888 hp.json basis phalangis (pedis)|proximal epiphysis of phalanx of toe|base of phalanx of foot|basis phalangis pedis|basal epiphysis of phalanx of foot http://purl.obolibrary.org/obo/UBERON_0013121 UBERON:0015783 biolink:AnatomicalEntity smooth muscle layer in fatty layer of subcutaneous tissue A smooth muscle tissue that is part of a hypodermis. FMA:77862 hp.json muscle layer in fatty layer of subcutaneous tissue|stratum musculosum panniculi adiposi telae subcutaneae http://purl.obolibrary.org/obo/UBERON_0015783 UBERON:0013122 biolink:AnatomicalEntity distal epiphysis of phalanx of pes FMA:32890 hp.json ungual tuberosity of distal phalanx of toe|caput phalangis pedis|distal epiphysis of phalanx of toe|distal end of phalanx of foot|caput phalangis (pedis)|head of phalanx of foot http://purl.obolibrary.org/obo/UBERON_0013122 UBERON:0013124 biolink:AnatomicalEntity left posterior cardinal vein A posterior cardinal vein that is in_the_left_side_of a multicellular organism. FMA:70316|EHDAA2:0001486 hp.json left postcardinal vein|posterior cardinal vein left http://purl.obolibrary.org/obo/UBERON_0013124 UBERON:0001141 biolink:AnatomicalEntity right renal vein A renal vein that drains the right kidney. EMAPA:37381|NCIT:C52695|MA:0002212|UMLS:C0508000|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvdUXKJwpEbGdrcN5Y29ycA|FMA:14335 hp.json http://purl.obolibrary.org/obo/UBERON_0001141 pheno_slim|human_reference_atlas UBERON:0001140 biolink:AnatomicalEntity renal vein Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. EHDAA2:0001602|UMLS:C0035092|EMAPA:28376|galen:RenalVein|MA:0002210|EHDAA:8722|NCIT:C33462|OpenCyc:Mx4rvdUXKJwpEbGdrcN5Y29ycA|FMA:14334|GAID:544|BTO:0002681|MESH:D012082 hp.json vein of kidney|kidney vein|venae renales|renal venous tree http://purl.obolibrary.org/obo/UBERON_0001140 pheno_slim|human_reference_atlas|uberon_slim UBERON:0013118 biolink:AnatomicalEntity sulcus of brain A depression or fissure in the surface of the brain. It surrounds the gyri, creating the characteristic appearance of the brain in humans and other large mammals. NCIT:C32292|DHBA:10610|HBA:9352 hp.json sulci & spaces|cerebral sulci|cerebral sulci|cerebral sulcus|sulcus|fissure of brain http://purl.obolibrary.org/obo/UBERON_0013118 cumbo GO:0060623 biolink:BiologicalProcess regulation of chromosome condensation Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. hp.json http://purl.obolibrary.org/obo/GO_0060623 GO:0045009 biolink:CellularComponent chitosome An intracellular membrane-bounded particle found in fungi and containing chitin synthase; it synthesizes chitin microfibrils. Chitin synthase activity exists in chitosomes and they are proposed to act as a reservoir for regulated transport of chitin synthase enzymes to the division septum. hp.json http://purl.obolibrary.org/obo/GO_0045009 UBERON:0001146 biolink:AnatomicalEntity suprarenal vein A vein that drains the adrenal gland. MA:0002229|MA:0002081|NCIT:C53129|EHDAA2:0001966|UMLS:C0226717|EHDAA:8731|FMA:14348 hp.json adrenal vein http://purl.obolibrary.org/obo/UBERON_0001146 uberon_slim GO:0060627 biolink:BiologicalProcess regulation of vesicle-mediated transport Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell. hp.json http://purl.obolibrary.org/obo/GO_0060627 UBERON:0001148 biolink:AnatomicalEntity median nerve A nerve of the arm that originates from the brachial plexus and is formed from parts of the medial and lateral cords of the brachial plexus, and continues down the arm to enter the forearm with the brachial artery. It originates from the brachial plexus with roots from C5, C6, C7, C8 & T1. GAID:843|MESH:D008475|UMLS:C0025058|EHDAA:5648|FMA:14385|MA:0001168|EMAPA:17277|NCIT:C52815|OpenCyc:Mx4rwF4HF5wpEbGdrcN5Y29ycA|EHDAA2:0001086 hp.json nervus medianus http://purl.obolibrary.org/obo/UBERON_0001148 uberon_slim|human_reference_atlas UBERON:0001143 biolink:AnatomicalEntity hepatic vein Vein that carries blood away from the liver[ZFA]. XAO:0000387|AAO:0010216|UMLS:C0019155|MA:0003015|ZFA:0000670|MESH:D006503|EMAPA:19221|TAO:0000670|OpenCyc:Mx4rv5GivJwpEbGdrcN5Y29ycA|galen:HepaticVein|FMA:14337|NCIT:C32736|GAID:534 hp.json hepatic veins|liver vein|vein of liver|venae hepaticae|vena hepatica http://purl.obolibrary.org/obo/UBERON_0001143 vertebrate_core|pheno_slim|human_reference_atlas|uberon_slim UBERON:0001142 biolink:AnatomicalEntity left renal vein A renal vein that drains the left kidney. UMLS:C0508001|MA:0002211|NCIT:C52693|EMAPA:37166|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rvdUXKJwpEbGdrcN5Y29ycA|FMA:14336 hp.json http://purl.obolibrary.org/obo/UBERON_0001142 pheno_slim|human_reference_atlas UBERON:0001145 biolink:AnatomicalEntity ovarian vein A vein that carries deoxygenated blood from its corresponding ovary to inferior vena cava or one of its tributaries. SCTID:278193003|UMLS:C0226720|EMAPA:18644|NCIT:C53058|Wikipedia:Ovarian_vein|MA:0002186|OpenCyc:Mx4rvrST5ZwpEbGdrcN5Y29ycA|FMA:14346 hp.json vena ovarica sinistra|vein of gonada of female reproductive system|female reproductive system gonad vein|vein of female reproductive system gonada|female reproductive system gonada vein|vena ovarica dextra|vena ovarica sinistra|vein of female reproductive system gonad|gonada of female reproductive system vein|vein of gonad of female reproductive system|vein of ovary|vena ovarica dextra|gonad of female reproductive system vein|ovary vein http://purl.obolibrary.org/obo/UBERON_0001145 uberon_slim UBERON:0001144 biolink:AnatomicalEntity testicular vein A vein that carries deoxygenated blood from a single male gonad. It is the male equivalent of the ovarian vein, and is the venous counterpart of the testicular artery. It is a paired vein, with one supplying each testis. FMA:14344|MA:0002234|UMLS:C0226718|BTO:0002678|OpenCyc:Mx4rv1WIHpwpEbGdrcN5Y29ycA|NCIT:C53050|EMAPA:18647|MA:0002218 hp.json testicle vein|spermatic vein|testicular venous tree|male gonadal vein|venae spermaticae|vena testicularis sinistra|vena tesicularis|vena testicularis dextra|vein of testicle http://purl.obolibrary.org/obo/UBERON_0001144 uberon_slim CHEBI:24500 biolink:ChemicalSubstance heparan hp.json heparans http://purl.obolibrary.org/obo/CHEBI_24500 3_STAR UBERON:0001130 biolink:AnatomicalEntity vertebral column Subdivision of skeletal system that consists of all the vertebra and associated skeletal elements and joints in the body[modified from VSAO]. EHDA:10119|TAO:0001559|EMAPA:35919|VSAO:0000185|NCIT:C12998|OpenCyc:Mx4rv2j-CpwpEbGdrcN5Y29ycA|VHOG:0001142|AAO:0000734|NCIT:C33588|AAO:0000699|NIF_Subcellular:sao1145756102|EFO:0001369|OpenCyc:Mx4rvVkFEpwpEbGdrcN5Y29ycA|UMLS:C0037949|UMLS:C1519455|XAO:0003074|MESH:D013131|FMA:13478|ZFA:0001559|GAID:106|BTO:0000818|galen:SpinalColumn|OpenCyc:Mx4rv6GF55wpEbGdrcN5Y29ycA|MA:0002416 hp.json vertebral column skeleton|vertebral region|columna vertebralis|backbone|spine|spinal column|dorsal spine http://purl.obolibrary.org/obo/UBERON_0001130 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0001136 biolink:AnatomicalEntity mesothelium Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). AEO:0000111|UMLS:C0086610|EHDAA:2349|EHDAA:6073|EHDAA2_RETIRED:0003111|Wikipedia:Mesothelium|EHDAA:646|MA:0000565|NCIT:C33105|EMAPA:32856|FMA:14074|CALOHA:TS-1183|EHDAA:640|EHDAA:2331|BTO:0002422|EHDAA:295|SCTID:361918002 hp.json http://purl.obolibrary.org/obo/UBERON_0001136 uberon_slim UBERON:0001135 biolink:AnatomicalEntity smooth muscle tissue Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]. galen:SmoothMuscleTissue|VHOG:0001246|TAO:0005274|EHDAA2:0003141|OpenCyc:Mx4rvvSS3pwpEbGdrcN5Y29ycA|AEO:0000141|NCIT:C12437|EMAPA:32717|galen:SmoothMuscle|BTO:0001260|WBbt:0005781|GAID:167|EFO:0000889|MESH:D009130|MAT:0000303|XAO:0000175|MA:0000166|EV:0100378|UMLS:C1267092|AAO:0010244|MIAA:0000303|FMA:14070|CALOHA:TS-0943|Wikipedia:Smooth_muscle_tissue|ZFA:0005274 hp.json visceral muscle tissue|smooth muscle|textus muscularis levis; textus muscularis nonstriatus|visceral muscle|textus muscularis nonstriatus|non-striated muscle|textus muscularis levis; textus muscularis nonstriatus|involuntary muscle http://purl.obolibrary.org/obo/UBERON_0001135 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0001138 biolink:AnatomicalEntity superior mesenteric vein In anatomy, the superior mesenteric vein (SMV) is a blood vessel that drains blood from the small intestine. At its termination behind the neck of the pancreas, the SMV combines with the splenic vein to form the hepatic portal vein. The SMV lies to the right of the similarly named artery, the superior mesenteric artery, which originates from the abdominal aorta. [WP,unvetted]. BTO:0002783|VHOG:0000552|FMA:14332|EMAPA:18643|NCIT:C33687|OpenCyc:Mx4rwFjmM5wpEbGdrcN5Y29ycA|EHDAA:5414|EHDAA2:0001951|MA:0002179|UMLS:C0226742 hp.json vena mesenterica superior|upper mesenteric vein http://purl.obolibrary.org/obo/UBERON_0001138 uberon_slim|human_reference_atlas UBERON:0001137 biolink:AnatomicalEntity dorsum A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. GAID:30|NCIT:C13062|UMLS:C0004600|CALOHA:TS-2223|MESH:D001415|Wikipedia:Dorsum_(anatomy)|OpenCyc:Mx4rvVkEU5wpEbGdrcN5Y29ycA|SCTID:123961009|EFO:0001405|BTO:0001713|FMA:14181|MESH:A01.176|galen:Back hp.json back|back of body proper|dorsal part of organism http://purl.obolibrary.org/obo/UBERON_0001137 uberon_slim|efo_slim UBERON:0001132 biolink:AnatomicalEntity parathyroid gland The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism. MA:0000128|MAT:0000082|VHOG:0001188|XAO:0000167|FMA:13890|AAO:0010545|GAID:452|NCIT:C12765|MIAA:0000082|UMLS:C0030518|BTO:0000997|EMAPA:32812|EV:0100134|EFO:0000862|CALOHA:TS-0745|MESH:D010280 hp.json parathyroid secreting cell|parathyroid|epithelial body http://purl.obolibrary.org/obo/UBERON_0001132 uberon_slim|organ_slim|pheno_slim UBERON:0001131 biolink:AnatomicalEntity vertebral foramen A foramen within a vertebral element through which the spinal cord runs. It is formed by the anterior segment, and the posterior part, the vertebral arch. EMAPA:37803|MA:0001454|OpenCyc:Mx4rv_EvQZwpEbGdrcN5Y29ycA|FMA:13479|AAO:0000729 hp.json vertebra neural canal|foramen vertebrale http://purl.obolibrary.org/obo/UBERON_0001131 uberon_slim UBERON:0001134 biolink:AnatomicalEntity skeletal muscle tissue Muscle tissue that consists primarily of skeletal muscle fibers. MA:0002439|FMA:14069|NCIT:C13050|SCTID:426215008|EMAPA:32716|UMLS:C0242692|Wikipedia:Skeletal_striated_muscle hp.json skeletal muscle system|skeletal muscle|somatic muscle http://purl.obolibrary.org/obo/UBERON_0001134 uberon_slim|vertebrate_core|pheno_slim UBERON:0001133 biolink:AnatomicalEntity cardiac muscle tissue Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. galen:CardiacMuscleTissue|ZFA:0005280|AEO:0000142|FMA:14068|CALOHA:TS-0440|ncithesaurus:Heart_Muscle|TAO:0005280|galen:CardiacMuscle|AAO:0010245|Wikipedia:Cardiac_muscle|EMAPA:32688|BTO:0000199|BILA:0000134|EHDAA2:0003142 hp.json myocardium muscle tissue|muscle of heart muscle tissue|textus muscularis of heart myocardium|muscle tissue of muscle of heart|heart muscle muscle tissue|textus muscularis of cardiac muscle|myocardium textus muscularis|heart myocardium muscle tissue|muscle of heart textus muscularis|muscle tissue of myocardium|cardiac muscle muscle tissue|heart muscle textus muscularis|cardiac musculature|muscle tissue of heart muscle|heart myocardium textus muscularis|textus muscularis of myocardium|cardiac muscle textus muscularis|cardiac muscle|muscle tissue of heart myocardium|textus muscularis of muscle of heart|muscle tissue of cardiac muscle|textus muscularis of heart muscle http://purl.obolibrary.org/obo/UBERON_0001133 uberon_slim|vertebrate_core|pheno_slim UBERON:0001118 biolink:AnatomicalEntity lobe of thyroid gland A lobe of tissue that is part of a thyroid gland. EMAPA:18196|VHOG:0000732|EHDAA2:0002032|UMLS:C0447647|FMA:13367|NCIT:C33784|MA:0000131 hp.json thyroid lobe|lobuli glandulae thyroideae|lobus glandulae thyroideae|thyroid gland lobe|lobus (glandula thyroidea) http://purl.obolibrary.org/obo/UBERON_0001118 UBERON:0001119 biolink:AnatomicalEntity right lobe of thyroid gland A lobe of thyroid gland that is in the right side of a thyroid gland. MA:0000729|VHOG:0000733|NCIT:C33491|FMA:13368|UMLS:C0229581|EHDAA2:0001759|EMAPA:18198 hp.json lobus dexter (glandula thyroidea)|right thyroid lobe|thyroid gland right lobe http://purl.obolibrary.org/obo/UBERON_0001119 UBERON:0015766 biolink:AnatomicalEntity epithelium of duct of salivary gland An epithelium that is part of a duct of salivary gland. FMA:67682 hp.json salivary duct epithelium|salivary ductal epithelium|epithelium of salivary duct http://purl.obolibrary.org/obo/UBERON_0015766 GO:0045026 biolink:BiologicalProcess plasma membrane fusion The joining of the lipid bilayer membrane that surround a cell with that of another cell, producing a single cell. hp.json cell fusion|cell-cell fusion http://purl.obolibrary.org/obo/GO_0045026 UBERON:0001125 biolink:AnatomicalEntity serratus ventralis The serratus ventralis is a muscle that originates on the surface of the upper eight or nine ribs at the side of the chest and inserts along the entire anterior length of the medial border of the scapula. [WP,unvetted]. OpenCyc:Mx4rvWn_D5wpEbGdrcN5Y29ycA|EMAPA:18525|EHDAA:9463|FMA:13397|UMLS:C1710059|EHDAA2:0001832|MA:0002378|NCIT:C53014|VHOG:0000679 hp.json serratus anterior|Boxer's muscle|serratus ventralis muscle|serratus anterior muscle|serratus lateralis|musculus serratus anterior http://purl.obolibrary.org/obo/UBERON_0001125 uberon_slim|pheno_slim UBERON:0001120 biolink:AnatomicalEntity left lobe of thyroid gland A lobe of thyroid gland that is in the left side of a thyroid gland. EHDAA2:0000965|NCIT:C32973|VHOG:0000734|EMAPA:18197|MA:0000728|UMLS:C0229582|FMA:13369 hp.json left thyroid lobe|thyroid gland left lobe|lobus sinister (glandula thyroidea) http://purl.obolibrary.org/obo/UBERON_0001120 UBERON:0013172 biolink:AnatomicalEntity cricotracheal ligament The cricotracheal ligament connects the cricoid cartilage with the first ring of the trachea[WP]. The caudal border of the cricoid cartilage is joined to the first ring of the trachea by this ligament. It is an extrinsic laryngeal ligament. It resembles the fibrous membrane which connects the cartilaginous rings of the trachea to each other. FMA:55259|NCIT:C32405|UMLS:C0225543 hp.json http://purl.obolibrary.org/obo/UBERON_0013172 HP:0032391 biolink:PhenotypicFeature Subcortical heterotopia A form of heterotopia were the mislocalized gray matter is located deep within the white matter. hp.json http://purl.obolibrary.org/obo/HP_0032391 HP:0032390 biolink:PhenotypicFeature Periventricular ribbonlike heterotopia Heterotopia that forms a continuous wavy line along the ventricular wall. hp.json http://purl.obolibrary.org/obo/HP_0032390 HP:0032393 biolink:PhenotypicFeature Diffuse ribbon-like subcortical heterotopia Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex. hp.json http://purl.obolibrary.org/obo/HP_0032393 HP:0032392 biolink:PhenotypicFeature Nodular subcortical heterotopia in peritrigonal regions Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei. hp.json http://purl.obolibrary.org/obo/HP_0032392 UBERON:0013170 biolink:AnatomicalEntity cricoarytenoid ligament Laryngeal ligament that connects the cricoid and arytenoid cartilages[WP,modified]. FMA:55261 hp.json ligamentum cricoaryteneoideum|crico-arytenoid ligament http://purl.obolibrary.org/obo/UBERON_0013170 UBERON:0013171 biolink:AnatomicalEntity cricothyroid ligament This attaches the caudal border of the thyroid cartilage to the ventral arch of the cricoid cartilage. Its sheetlike ventral portion is sometimes referred to as the cricothyroid membrane. Being elastic, it 'balances' movement at the hinge-like cricothyroid joint and determines the resting position of the larynx when the muscles are relaxed[MURDOCH]. The cricothyroid ligament is the larger part of the laryngeal membrane, continuing inferiorly as a median or anterior part and twin lateral ligaments. The median cricothyroid ligament is a flat band of white tissue joining the cricoid and thyroid cartilages, while the lateral cricothyroid ligament is also known as the cricothyroid membrane (also called conus elasticus). FMA:55233|NCIT:C32403|UMLS:C0225542 hp.json ligamentum cricothyreoideum|crico-thyroid ligament http://purl.obolibrary.org/obo/UBERON_0013171 HP:0032399 biolink:PhenotypicFeature Dysgyria with normal cortical thickness An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex. hp.json http://purl.obolibrary.org/obo/HP_0032399 HP:0032398 biolink:PhenotypicFeature Dysgyria An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. hp.json http://purl.obolibrary.org/obo/HP_0032398 HP:0032395 biolink:PhenotypicFeature Curvilinear subcortical heterotopia Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia. hp.json Giant heterotopia http://purl.obolibrary.org/obo/HP_0032395 HP:0032394 biolink:PhenotypicFeature Mesial parasagittal subcortical heterotopia Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia. hp.json http://purl.obolibrary.org/obo/HP_0032394 HP:0032397 biolink:PhenotypicFeature Citrullinuria An increased concentration of citrulline in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032397 GO:0060670 biolink:BiologicalProcess branching involved in labyrinthine layer morphogenesis The process in which the branches of the fetal placental villi are generated and organized. The villous part of the placenta is called the labyrinth layer. hp.json http://purl.obolibrary.org/obo/GO_0060670 GO:0060671 biolink:BiologicalProcess epithelial cell differentiation involved in embryonic placenta development The process in which a trophoblast cell acquires specialized features of an epithelial cell of the placental labyrinthine layer. hp.json http://purl.obolibrary.org/obo/GO_0060671 HP:0032396 biolink:PhenotypicFeature Transmantle columnar heterotopia Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma. hp.json http://purl.obolibrary.org/obo/HP_0032396 UBERON:0001194 biolink:AnatomicalEntity splenic artery An artery that supplies the spleen. OpenCyc:Mx4rv0cb2ZwpEbGdrcN5Y29ycA|UMLS:C0037996|FMA:14773|GAID:510|EMAPA:19216|galen:SplenicArtery|MA:0001991|NCIT:C33597|MA:0003177|MESH:D013157 hp.json arteria splenica|lienal artery|arteria lienalis http://purl.obolibrary.org/obo/UBERON_0001194 human_reference_atlas|uberon_slim UBERON:0001193 biolink:AnatomicalEntity hepatic artery An artery that supplies the liver. EMAPA:17859|NCIT:C32729|UMLS:C0019145|MESH:D006499|ZFA:0005161|TAO:0005161|MA:0001963|GAID:496|galen:HepaticArtery|BTO:0004307|OpenCyc:Mx4rvzKtFpwpEbGdrcN5Y29ycA|FMA:14769 hp.json arteria hepatica propria|arteria hepatica http://purl.obolibrary.org/obo/UBERON_0001193 uberon_slim|vertebrate_core GO:0060673 biolink:BiologicalProcess cell-cell signaling involved in placenta development Any process that mediates the transfer of information from one cell to another. hp.json cell-cell signalling involved in placenta development http://purl.obolibrary.org/obo/GO_0060673 GO:0060674 biolink:BiologicalProcess placenta blood vessel development The process whose specific outcome is the progression of a blood vessel of the placenta over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0060674 UBERON:0001190 biolink:AnatomicalEntity ovarian artery An artery that supplies an ovary. FMA:14761|SCTID:244280002|Wikipedia:Ovarian_artery|EMAPA:18620|OpenCyc:Mx4rwOa9PZwpEbGdrcN5Y29ycA|UMLS:C0226411|MA:0002012|NCIT:C33242 hp.json arteria ovarica|arteria ovarica|ovarian arterial tree http://purl.obolibrary.org/obo/UBERON_0001190 human_reference_atlas|uberon_slim UBERON:0001191 biolink:AnatomicalEntity common iliac artery The common iliac arteries are two large arteries, about 4cm long in adults but more than a centimetre in diameter, that originate from the aortic bifurcation. The arteries run inferolaterally, along the medial border of the psoas muscles to the pelvic brim, where they bifurcate into the external iliac artery and internal iliac artery. The common iliac artery, and all of its branches, exist as paired structures (that is to say, there is one on the left side and one on the right). The distribution of the common iliac artery is basically the pelvis and lower limb on the corresponding side. Both common iliac arteries are accompanied along their course by common iliac veins. [WP,unvetted]. FMA:14764|NCIT:C32357|MA:0001972|EMAPA:17310|EHDAA:2553|EHDAA2:0000311|OpenCyc:Mx4rvkZ7ZpwpEbGdrcN5Y29ycA|UMLS:C1261084 hp.json arteria iliaca communis|common iliac arterial tree http://purl.obolibrary.org/obo/UBERON_0001191 human_reference_atlas|uberon_slim GO:0072659 biolink:BiologicalProcess protein localization to plasma membrane A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. hp.json protein localisation in plasma membrane|protein-plasma membrane targeting|protein localization in plasma membrane|protein targeting to plasma membrane http://purl.obolibrary.org/obo/GO_0072659 goslim_generic|goslim_pombe GO:0072657 biolink:BiologicalProcess protein localization to membrane A process in which a protein is transported to, or maintained in, a specific location in a membrane. hp.json protein localisation in membrane|protein localization in membrane http://purl.obolibrary.org/obo/GO_0072657 UBERON:0001199 biolink:AnatomicalEntity mucosa of stomach The mucosal layer that lines the stomach. MA:0002683|MESH:D005753|CALOHA:TS-0404|galen:GastricMucosa|OpenCyc:Mx8NhB4rvcD6KJwpEbGdrcN5Y29ycB4rvmKNOpwpEbGdrcN5Y29ycB4rvVj5FpwpEbGdrcN5Y29ycB4rvVjlqpwpEbGdrcN5Y29ycA|UMLS:C0017136|Wikipedia:Gastric_mucosa|MESH:A03.492.766.440|NCIT:C32656|FMA:14907|BTO:0001308|GAID:321|EMAPA:35817|SCTID:362131005 hp.json stomach organ mucosa|tunica mucosa gastris|tunica mucosa gastris|stomach mucous membrane|mucosa of organ of stomach|tunica mucosa gastricae|ventriculus mucosa|ventriculus organ mucosa|tunica mucosa gastris|ventriculus mucosa of organ|mucous membrane of ventriculus|gastric mucous membrane|organ mucosa of ventriculus|tunica mucosa (gaster)|Magenschleimhaut|gastric mucosa|mucosa of ventriculus|organ mucosa of stomach|ventriculus mucous membrane|mucous membrane of stomach|stomach mucosa of organ|mucosa of organ of ventriculus|stomach mucosa http://purl.obolibrary.org/obo/UBERON_0001199 pheno_slim|uberon_slim UBERON:0013161 biolink:AnatomicalEntity left lateral ventricle A telencephalic ventricle that is in_the_left_side_of a telencephalon. FMA:78450 hp.json left telencephalic ventricle http://purl.obolibrary.org/obo/UBERON_0013161 UBERON:0013162 biolink:AnatomicalEntity right lateral ventricle A telencephalic ventricle that is in_the_right_side_of a telencephalon. FMA:78449 hp.json right telencephalic ventricle http://purl.obolibrary.org/obo/UBERON_0013162 UBERON:0013164 biolink:AnatomicalEntity molariform tooth A molar or premolar. hp.json postcanine tooth|molariform|cheek tooth http://purl.obolibrary.org/obo/UBERON_0013164 UBERON:0013160 biolink:AnatomicalEntity epithalamus ventricular layer EHDAA2:0000450|VHOG:0000884|EMAPA:17535|EHDAA:5437 hp.json ventricular layer epithalamus|ventricular layer of epithalamus http://purl.obolibrary.org/obo/UBERON_0013160 UBERON:0013167 biolink:AnatomicalEntity cricopharyngeal ligament Laryngeal ligament that connects the cricoid cartilage to the pharynx[WP,modified]. FMA:55260 hp.json crico-pharyngeal ligament|ligamentum cricopharyngeum http://purl.obolibrary.org/obo/UBERON_0013167 UBERON:0013168 biolink:AnatomicalEntity thyroepiglottic ligament Laryngeal ligament that connects the epiglottis to the thyroid cartilage[WP,modified]. UMLS:C0225514|FMA:55230|NCIT:C33777 hp.json ligamentum thyroepiglotticum|thyroepiglottic ligament http://purl.obolibrary.org/obo/UBERON_0013168 UBERON:0001183 biolink:AnatomicalEntity inferior mesenteric artery Mesenteric artery that supplies the large intestine from the left colic (or splenic) flexure to the upper part of the rectum, which includes the descending colon, the sigmoid colon, and part of the rectum. Proximally, its territory of distribution overlaps (forms a watershed) with the middle colic artery, and therefore the superior mesenteric artery. The SMA and IMA anastomose via the marginal artery (artery of Drummond). The territory of distribution of the IMA is more or less equivalent to the embryonic hindgut. [WP,unvetted]. NCIT:C32780|EMAPA:18618|BTO:0002302|EHDAA2:0000817|VHOG:0001116|OpenCyc:Mx4rv-t-S5wpEbGdrcN5Y29ycA|GAID:501|FMA:14750|galen:InferiorMesentericArtery|MA:0002004|MESH:D017537|EHDAA:4345|UMLS:C0162860 hp.json arteria mesenterica inferior|inferior mesenteric arterial tree|arteria mesenterica inferior|IMA http://purl.obolibrary.org/obo/UBERON_0001183 pheno_slim|human_reference_atlas|uberon_slim UBERON:0001182 biolink:AnatomicalEntity superior mesenteric artery Mesenteric artery that supplies the whole length of the small intestine except the superior part of the duodenum. It also supplies the cecum and the ascending part of the colon and about half the transverse part of the colon. It arises from the anterior surface of the aorta below the celiac artery at the level of the first lumbar vertebra. UMLS:C0162861|BTO:0002303|EMAPA:18619|VHOG:0000754|EHDAA2:0001949|GAID:502|galen:SuperiorMesentericArtery|MA:0002005|OpenCyc:Mx4rwE5KipwpEbGdrcN5Y29ycA|EHDAA:3358|MESH:D017538|NCIT:C33685|FMA:14749|EHDAA:5313 hp.json arteria mesenterica superior|arteria mesenterica superior|superior mesenteric arterial tree http://purl.obolibrary.org/obo/UBERON_0001182 pheno_slim|human_reference_atlas|uberon_slim UBERON:0001185 biolink:AnatomicalEntity right renal artery Renal artery that supplies the right kidney. OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rveOFHpwpEbGdrcN5Y29ycA|OpenCyc:Mx4rtW8I0KgEEdudWQACs5b6Bw|FMA:14752|EMAPA:37380|NCIT:C52740|MA:0002037|UMLS:C0226332 hp.json right renal arterial tree http://purl.obolibrary.org/obo/UBERON_0001185 pheno_slim|human_reference_atlas|uberon_slim UBERON:0001184 biolink:AnatomicalEntity renal artery One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. EMAPA:28373|AAO:0010223|GAID:507|MESH:D012077|EHDAA:5321|EFO:0002552|EHDAA2:0004100|BTO:0001165|RETIRED_EHDAA2:0001600|EHDAA:8594|OpenCyc:Mx4rveOFHpwpEbGdrcN5Y29ycA|FMA:14751|UMLS:C0035065|galen:RenalArtery|NCIT:C12778|ZFA:0000420|MA:0002035|TAO:0000420 hp.json renal arteries|renal arterial tree|arteria renalis http://purl.obolibrary.org/obo/UBERON_0001184 pheno_slim|human_reference_atlas|efo_slim|uberon_slim|vertebrate_core GO:0060669 biolink:BiologicalProcess embryonic placenta morphogenesis The process in which the embryonic placenta is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0060669 UBERON:0001187 biolink:AnatomicalEntity testicular artery One of a pair of arteries that is a branch of the abdominal aorta that supplies blood to a male gonad. FMA:14758|MA:0002063|EMAPA:18621 hp.json internal spermatic artery|internal spermatic arteries|internal spermatic vessels|spermatic artery|spermatic arteries|testicular arteries|arteria testicularis|testicular arterial tree|internal spermatic|spermatic vessels http://purl.obolibrary.org/obo/UBERON_0001187 human_reference_atlas|uberon_slim UBERON:0001186 biolink:AnatomicalEntity left renal artery Renal artery that supplies the left kidney. OpenCyc:Mx4rtW8I0agEEdudWQACs5b6Bw|FMA:14753|EMAPA:37098|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rveOFHpwpEbGdrcN5Y29ycA|UMLS:C0226333|NCIT:C52741|MA:0002036 hp.json left renal arterial tree http://purl.obolibrary.org/obo/UBERON_0001186 pheno_slim|human_reference_atlas UBERON:0001189 biolink:AnatomicalEntity left testicular artery A testicular artery that supplies a left testicle. NCIT:C52739|UMLS:C0734077|MA:0002041|EMAPA:37099|FMA:14760 hp.json trunk of left testicular arterial tree|left spermatic artery http://purl.obolibrary.org/obo/UBERON_0001189 human_reference_atlas UBERON:0001188 biolink:AnatomicalEntity right testicular artery A testicular artery that supplies a right testicle. FMA:14759|NCIT:C52738|MA:0002042|UMLS:C0734076|EMAPA:37382 hp.json trunk of right testicular arterial tree|right spermatic artery http://purl.obolibrary.org/obo/UBERON_0001188 human_reference_atlas UBERON:0013150 biolink:AnatomicalEntity future brain vesicle NCIT:C34259 hp.json brain vesicle|secondary brain vesicle|primary brain vesicle|primitive brain vesicle|early brain vesicle http://purl.obolibrary.org/obo/UBERON_0013150 UBERON:0013151 biolink:AnatomicalEntity choroidal artery One of two arteries (anterior and posterior choroidal artery) that supply blood to the choroid plexus, optic tract, hippocampus, globus pallidus, and other various brain regions. NCIT:C32310|UMLS:C0226164 hp.json choroid artery|artery of choroid plexus http://purl.obolibrary.org/obo/UBERON_0013151 UBERON:0013158 biolink:AnatomicalEntity foregut-midgut junction gland A gland that is part of a foregut-midgut junction. EHDAA2:0000574|EMAPA:17065 hp.json gland of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0013158 UBERON:0013159 biolink:AnatomicalEntity epithalamus mantle layer VHOG:0000913|EHDAA:5435|EHDAA2:0000449|EMAPA:17533 hp.json mantle layer of epithalamus|mantle layer epithalamus http://purl.obolibrary.org/obo/UBERON_0013159 GO:0045058 biolink:NamedThing T cell selection hp.json http://purl.obolibrary.org/obo/GO_0045058 UBERON:0013156 biolink:AnatomicalEntity 1st arch mandibular endoderm EMAPA:16384|EHDAA2:0000033 hp.json endoderm of mandibular component http://purl.obolibrary.org/obo/UBERON_0013156 UBERON:0001172 biolink:AnatomicalEntity hepatic acinus The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. NCIT:C32992|MA:0002496|FMA:14654|EMAPA:35497|UMLS:C0227519 hp.json portal acinus|liver acinus http://purl.obolibrary.org/obo/UBERON_0001172 UBERON:0001171 biolink:AnatomicalEntity portal lobule The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. NCIT:C33341|FMA:14653|UMLS:C0682620|MA:0002498 hp.json http://purl.obolibrary.org/obo/UBERON_0001171 pheno_slim UBERON:0001174 biolink:AnatomicalEntity common bile duct The part of the biliary tree formed by the union of the cystic duct and the common hepatic duct. NCIT:C12698|EHDAA:3981|GAID:282|MESH:D003135|UMLS:C0009437|ZFA:0005165|VHOG:0000214|FMA:14667|TAO:0005165|EHDAA2:0000303|EMAPA:17201|MA:0001631|galen:CommonBileDuct hp.json ductus choledochus|ductus choledochus (biliaris) http://purl.obolibrary.org/obo/UBERON_0001174 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0001173 biolink:AnatomicalEntity biliary tree A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder. EMAPA:35172|AAO:0011020|UMLS:C0005423|FMA:14665|XAO:0000455 hp.json biliary tract http://purl.obolibrary.org/obo/UBERON_0001173 organ_slim|pheno_slim|uberon_slim UBERON:0001170 biolink:AnatomicalEntity mesentery of small intestine The peritoneum responsible for connecting the jejunum and ileum (parts of the small intestine) to the back wall of the abdomen. Between the two sheets of peritoneum are blood vessels, lymph vessels, and nerves. This allows these parts of the small intestine to move relatively freely within the abdominopelvic cavity. The brain, however, cannot map sensation accurately, so sensation is usually referred to the midline, an example of referred pain[WP]. FMA:14643|MA:0001555|EMAPA:37745 hp.json mesentery (proper)|mesentery proper|small intestine mesentery|small intestinal mesentery http://purl.obolibrary.org/obo/UBERON_0001170 UBERON:0001179 biolink:AnatomicalEntity peritoneal cavity Anatomical cavity bounded by visceral and parietal peritoneum. SCTID:181616008|EHDAA2:0001446|UMLS:C1704247|Wikipedia:Peritoneal_cavity|MA:0000054|FMA:14704|GAID:24|VHOG:0000852|MESH:D010529|BTO:0001782|EMAPA:16138|NCIT:C12769 hp.json saccus serosus peritonei|saccus serosus peritonei|cavitas peritonealis|cavitas peritonealis|cavitas peritonealis http://purl.obolibrary.org/obo/UBERON_0001179 pheno_slim|uberon_slim GO:0072678 biolink:BiologicalProcess T cell migration The movement of a T cell within or between different tissues and organs of the body. hp.json T-lymphocyte migration|T-cell migration|T lymphocyte migration http://purl.obolibrary.org/obo/GO_0072678 UBERON:0001176 biolink:AnatomicalEntity right hepatic duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. NCIT:C33476|VHOG:0000217|EHDAA:3992|FMA:14669|EMAPA:32797|MA:0001639|EHDAA2:0001727|UMLS:C0227557 hp.json ductus hepaticus dexter http://purl.obolibrary.org/obo/UBERON_0001176 GO:0072676 biolink:BiologicalProcess lymphocyte migration The movement of a lymphocyte within or between different tissues and organs of the body. hp.json http://purl.obolibrary.org/obo/GO_0072676 GO:0070013 biolink:CellularComponent intracellular organelle lumen An organelle lumen that is part of an intracellular organelle. hp.json http://purl.obolibrary.org/obo/GO_0070013 UBERON:0001175 biolink:AnatomicalEntity common hepatic duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. GAID:286|EMAPA:19101|MA:0002660|UMLS:C0019149|MESH:D006500|FMA:14668|VHOG:0000220|NCIT:C32356 hp.json ductus hepaticus communis|hepatic duct http://purl.obolibrary.org/obo/UBERON_0001175 pheno_slim|uberon_slim UBERON:0001178 biolink:AnatomicalEntity visceral peritoneum The inner layer of peritoneum that is wrapped around organs located inside the intraperitoneal space. VHOG:0001528|EMAPA:16592|Wikipedia:Visceral_peritoneum|FMA:14703|ZFA:0005132|TAO:0005132|SCTID:362702003 hp.json visceral serous membrane of peritoneum http://purl.obolibrary.org/obo/UBERON_0001178 uberon_slim|vertebrate_core GO:0072674 biolink:BiologicalProcess multinuclear osteoclast differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a multinuclear osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. hp.json multinuclear osteoclast morphogenesis|multinuclear osteoclast formation http://purl.obolibrary.org/obo/GO_0072674 UBERON:0001177 biolink:AnatomicalEntity left hepatic duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. UMLS:C0227560|FMA:14670|NCIT:C32960|VHOG:0000218|EHDAA:3990|EMAPA:32795|MA:0001638|EHDAA2:0000941 hp.json ductus hepaticus sinister http://purl.obolibrary.org/obo/UBERON_0001177 UBERON:0013140 biolink:AnatomicalEntity systemic vein Any vein within the general circulation that transports blood back to the right atrium of the heart. SCTID:244389004|FMA:66644|NCIT:C33719|UMLS:C0447117 hp.json systemic venous tree organ part http://purl.obolibrary.org/obo/UBERON_0013140 UBERON:0013142 biolink:AnatomicalEntity soleal vein A vein that drains the soleus. hp.json vena solealis|soleus vein|vein of soleus muscle http://purl.obolibrary.org/obo/UBERON_0013142 human_reference_atlas UBERON:0013147 biolink:AnatomicalEntity early mesencephalic vesicle EHDAA2:0001102 hp.json mesencephalic vesicle http://purl.obolibrary.org/obo/UBERON_0013147 UBERON:0013148 biolink:AnatomicalEntity early midbrain vesicle EHDAA2:0001103 hp.json midbrain vesicle http://purl.obolibrary.org/obo/UBERON_0013148 UBERON:0013149 biolink:AnatomicalEntity hindbrain vesicle EMAPA:16917|EHDAA2:0000101 hp.json rhombencephalic vesicle http://purl.obolibrary.org/obo/UBERON_0013149 UBERON:0013143 biolink:AnatomicalEntity gastrocnemius vein A vein that drains the gastrocnemius. hp.json vena gastrocnemii|vein of gastrocnemius muscle http://purl.obolibrary.org/obo/UBERON_0013143 human_reference_atlas UBERON:0001161 biolink:AnatomicalEntity body of stomach The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO]. NCIT:C12258|galen:GastricCorpus|UMLS:C0227230|EMAPA:35810|MA:0002559|BTO:0000505|FMA:14560 hp.json stomach body|corpus gastricum (ventriculare)|corpus gastricum|gastric corpus|corpus ventriculi|gastric body|corpus gastricum|corpus ventriculare http://purl.obolibrary.org/obo/UBERON_0001161 uberon_slim GO:0060688 biolink:BiologicalProcess regulation of morphogenesis of a branching structure Any process that modulates the rate, frequency, or extent of branching morphogenesis, the process in which the anatomical structures of branches are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0060688 UBERON:0001169 biolink:AnatomicalEntity wall of large intestine An anatomical wall that is part of a large intestine [Automatically generated definition]. EMAPA:35470|FMA:14619|MA:0002695 hp.json large intestinal wall|large intestine anatomical wall|large intestine wall|anatomical wall of large intestine http://purl.obolibrary.org/obo/UBERON_0001169 UBERON:0001168 biolink:AnatomicalEntity wall of small intestine An anatomical wall that is part of a small intestine [Automatically generated definition]. MA:0002696|NCIT:C33573|FMA:14615|EMAPA:35785|UMLS:C1519375 hp.json small bowel anatomical wall|small intestine wall|small intestinal wall|anatomical wall of small bowel|small intestine anatomical wall|wall of small bowel|small bowel wall|anatomical wall of small intestine http://purl.obolibrary.org/obo/UBERON_0001168 GO:0072666 biolink:BiologicalProcess establishment of protein localization to vacuole The directed movement of a protein to a specific location in a vacuole. hp.json establishment of protein localisation to vacuole http://purl.obolibrary.org/obo/GO_0072666 UBERON:0001165 biolink:AnatomicalEntity pyloric antrum The area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells. GAID:332|NCIT:C12259|EMAPA:17891|BTO:0001732|UMLS:C0034193|EFO:0002555|FMA:14579|MESH:D011706|galen:PyloricAntrum|MA:0001624 hp.json antrum of Willis|stomach pyloric antrum|antrum of stomach|antrum|stomach antrum|gastric antrum|antrum pylori|antrum pyloricum|antrum pyloricum http://purl.obolibrary.org/obo/UBERON_0001165 pheno_slim|efo_slim|uberon_slim GO:0072665 biolink:BiologicalProcess protein localization to vacuole A process in which a protein is transported to, or maintained at, a location in a vacuole. hp.json protein localisation to vacuole http://purl.obolibrary.org/obo/GO_0072665 UBERON:0001167 biolink:AnatomicalEntity wall of stomach The layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between. FMA:14582|EMAPA:35826|galen:WallOfStomach|MA:0002692|SCTID:279995000 hp.json stomach anatomical wall|ventriculus wall|anatomical wall of ventriculus|wall of ventriculus|gastric wall|anatomical wall of stomach|ventriculus anatomical wall|stomach wall http://purl.obolibrary.org/obo/UBERON_0001167 pheno_slim UBERON:0001166 biolink:AnatomicalEntity pylorus The stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum. FMA:14581|MA:0002560|EHDAA:4860|MESH:D011708|galen:Pylorus|UMLS:C0034196|BTO:0001146|EHDAA2:0001580|NCIT:C12260|VHOG:0000420|EMAPA:17631|GAID:333 hp.json stomach pyloric region|pyloric part of stomach|valvula pylori|pyloric region|pars pylorica|pars pylorica gastricae http://purl.obolibrary.org/obo/UBERON_0001166 pheno_slim|uberon_slim UBERON:0003849 biolink:AnatomicalEntity mesencephalic neural crest A neural crest that has_potential_to_developmentally_contribute_to a midbrain. EFO:0003591|EHDAA2:0001101|ZFA:0000935|VHOG:0000796|EHDAA:360|TAO:0000935 hp.json mesencephalic neural crest|neural crest midbrain http://purl.obolibrary.org/obo/UBERON_0003849 vertebrate_core|efo_slim HP:0032591 biolink:PhenotypicFeature Renal interstitial hemosiderin Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0032591 HP:0032590 biolink:PhenotypicFeature Renal neutrophilic tubulitis Infiltration of the renal tubular epithelium by neutrophils. hp.json http://purl.obolibrary.org/obo/HP_0032590 UBERON:0003847 biolink:AnatomicalEntity thyroid artery An artery that supplies a thyroid gland. EHDAA:7372|EMAPA:18622|EHDAA2:0002029|UMLS:C1711424|MA:0002066|NCIT:C53020|VHOG:0001366|AAO:0010490 hp.json http://purl.obolibrary.org/obo/UBERON_0003847 UBERON:0003848 biolink:AnatomicalEntity gonadal vein In medicine, gonadal vein refers to the blood vessel that carrying blood away from the gonad (testis, ovary) toward the heart. Females : ovarian vein Males : testicular vein [WP,unvetted]. VHOG:0001340|EHDAA:8703|OpenCyc:Mx4rvlWYh5wpEbGdrcN5Y29ycA|EHDAA2:0000719|SCTID:278192008|Wikipedia:Gonadal_vein hp.json gonada vein|vein of gonad|gonad vein|vein of gonada http://purl.obolibrary.org/obo/UBERON_0003848 UBERON:0003845 biolink:AnatomicalEntity lower eyelid epithelium An epithelium that is part of a lower eyelid [Automatically generated definition]. EHDAA2:0001016|VHOG:0000637|EMAPA:17832 hp.json inferior eyelid epithelium|lower eyelid epithelial tissue|epithelial tissue of lower eyelid|epithelium of inferior eyelid|epithelium of lower eyelid|epithelial tissue of inferior eyelid|inferior eyelid epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003845 GO:0008206 biolink:NamedThing bile acid metabolic process hp.json http://purl.obolibrary.org/obo/GO_0008206 UBERON:0003846 biolink:AnatomicalEntity thymus epithelium An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. ZFA:0005779|NCIT:C45713|EHDAA2:0002019|BTO:0001836|CALOHA:TS-1040|UMLS:C1711423|VHOG:0001426|EMAPA:35864|MA:0000768 hp.json thymus epithelial tissue|thymus gland epithelium|epithelial tissue of thymus gland|thymic epithelial tissue|thymic epithelium|epithelium of thymus gland|epithelial tissue of thymus|epithelium of thymus|thymus gland epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003846 pheno_slim|human_reference_atlas HP:0032597 biolink:PhenotypicFeature Renal tubular epithelial cell sloughing At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. hp.json http://purl.obolibrary.org/obo/HP_0032597 GO:0008203 biolink:BiologicalProcess cholesterol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. hp.json cholesterol metabolism http://purl.obolibrary.org/obo/GO_0008203 HP:0032596 biolink:PhenotypicFeature Renal tubular epithelial cell cytoplasmic vacuolization Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. hp.json http://purl.obolibrary.org/obo/HP_0032596 HP:0032599 biolink:PhenotypicFeature Abnormal renal tubular epithelial morphology Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine. hp.json http://purl.obolibrary.org/obo/HP_0032599 UBERON:0015834 biolink:AnatomicalEntity duodenum lamina propria A lamina propria that is part of a duodenum. EMAPA:27255|MA:0003209|FMA:15972 hp.json lamina propria mucosae of duodenum|lamina propria of duodenum|duodenal lamina propria http://purl.obolibrary.org/obo/UBERON_0015834 human_reference_atlas GO:0008202 biolink:BiologicalProcess steroid metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. Wikipedia:Steroid_metabolism hp.json steroid metabolism http://purl.obolibrary.org/obo/GO_0008202 UBERON:0015833 biolink:AnatomicalEntity foregut epithelium An epithelium that is part of a foregut. MA:0003204|EMAPA:32922 hp.json http://purl.obolibrary.org/obo/UBERON_0015833 HP:0032598 biolink:PhenotypicFeature Blebbing of apical cytoplasm of renal tubular epithelial cells Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. hp.json http://purl.obolibrary.org/obo/HP_0032598 HP:0032593 biolink:PhenotypicFeature Myoglobin casts A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. hp.json http://purl.obolibrary.org/obo/HP_0032593 HP:0032592 biolink:PhenotypicFeature Aplasia of the right hemidiaphragm Congenital absence of the right-sided diaphragm. hp.json Right diaphragmatic hernia http://purl.obolibrary.org/obo/HP_0032592 HP:0032595 biolink:PhenotypicFeature Renal tubular epithelial cell detachment Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. hp.json http://purl.obolibrary.org/obo/HP_0032595 HP:0032594 biolink:PhenotypicFeature Renal tubular basement membrane denudation Naked basement membranes without tubular epithelium. hp.json Denuded tubular basement membrane http://purl.obolibrary.org/obo/HP_0032594 UBERON:0003854 biolink:AnatomicalEntity spinal cord neural plate A neural plate that develops_from a future spinal cord. VHOG:0000439|FMA:312957|ZFA:0007021|TAO:0007021 hp.json neural plate of spinal cord http://purl.obolibrary.org/obo/UBERON_0003854 UBERON:0003855 biolink:AnatomicalEntity gonad mesenchyme Mesenchyme that is part of a developing gonad [Automatically generated definition]. EMAPA:17385|EMAPA:16858|VHOG:0001090|EHDAA:5012 hp.json mesenchyme of gonada|mesenchyme of gonad|gonada mesenchyme http://purl.obolibrary.org/obo/UBERON_0003855 pheno_slim UBERON:0003852 biolink:AnatomicalEntity rhombencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. EMAPA:35747|EHDAA:362|EHDAA2:0001628|ZFA:0007063|VHOG:0001210|TAO:0007063 hp.json neural crest hindbrain|rhombencephalic neural crest|rhombomere neural crest http://purl.obolibrary.org/obo/UBERON_0003852 vertebrate_core UBERON:0003853 biolink:AnatomicalEntity spinal cord neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. EMAPA:16881|EHDAA:696|EMAPA:16163|VHOG:0001006 hp.json neural crest spinal cord|spinal neural crest http://purl.obolibrary.org/obo/UBERON_0003853 UBERON:0003850 biolink:AnatomicalEntity telencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a telencephalon. VHOG:0000799|ZFA:0000812|EFO:0003574|TAO:0000812|RETIRED_EHDAA2:0001991 hp.json neural crest telencephalon http://purl.obolibrary.org/obo/UBERON_0003850 efo_slim|vertebrate_core UBERON:0003851 biolink:AnatomicalEntity diencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. EMAPA:16518|VHOG:0000798|ZFA:0000811|EFO:0003573|EHDAA2:0000603|TAO:0000811 hp.json neural crest diencephalon|neural crest of future diencephalon|future diencephalon neural crest|diencephalic neural crest http://purl.obolibrary.org/obo/UBERON_0003851 efo_slim UBERON:0003838 biolink:AnatomicalEntity abdominal segment connective tissue A portion of connective tissue that is part of an abdominal segment of trunk [Automatically generated definition]. EMAPA:37059|MA:0000526 hp.json textus connectivus of abdominal segment of trunk|abdominal segment of trunk portion of connective tissue|abdominal segment of trunk connective tissue|abdominal segment of trunk textus connectivus|connective tissue of abdominal segment of trunk|portion of connective tissue of abdominal segment of trunk http://purl.obolibrary.org/obo/UBERON_0003838 UBERON:0003839 biolink:AnatomicalEntity forelimb joint A limb joint that is part of a forelimb [Automatically generated definition]. MA:0000614|EMAPA:19204 hp.json forelimb joint of limb|limb joint of forelimb|superior member limb joint|limb joint of anteriormost limb|limb joint of upper extremity|limb joint of fore limb|forelimb limb joint|superior member joint of limb|joint of limb of forelimb|upper extremity joint of limb|anteriormost limb joint of limb|wing joint|fore limb joint of limb|joint of limb of superior member|joint of limb of anteriormost limb|joint of limb of upper extremity|joint of limb of fore limb|fore limb limb joint|joint of free upper limb|anteriormost limb limb joint|upper extremity limb joint|limb joint of superior member http://purl.obolibrary.org/obo/UBERON_0003839 pheno_slim GO:0008219 biolink:BiologicalProcess cell death Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). hp.json necrosis|accidental cell death http://purl.obolibrary.org/obo/GO_0008219 goslim_chembl|goslim_mouse|goslim_agr|goslim_plant|goslim_drosophila UBERON:0003836 biolink:AnatomicalEntity abdominal segment skin A skin of body that is part of an abdominal segment of trunk [Automatically generated definition]. EMAPA:37063|MA:0000530|FMA:264898 hp.json skin of abdominal segment of trunk|abdominal segment of trunk skin http://purl.obolibrary.org/obo/UBERON_0003836 UBERON:0003837 biolink:AnatomicalEntity thoracic segment connective tissue A portion of connective tissue that is part of a thorax [Automatically generated definition]. MA:0000560|EMAPA:37253 hp.json thorax textus connectivus|portion of connective tissue of thorax|connective tissue of thorax|upper body connective tissue|thorax portion of connective tissue|textus connectivus of thorax|thorax connective tissue http://purl.obolibrary.org/obo/UBERON_0003837 UBERON:0003834 biolink:AnatomicalEntity thoracic segment blood vessel A blood vessel that is part of a thorax [Automatically generated definition]. EMAPA:37238|MA:0000558 hp.json thorax blood vessel|upper body blood vessel|blood vessel of thorax http://purl.obolibrary.org/obo/UBERON_0003834 GO:0008217 biolink:NamedThing regulation of blood pressure hp.json http://purl.obolibrary.org/obo/GO_0008217 UBERON:0003835 biolink:AnatomicalEntity abdominal segment blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. MA:0000524|EMAPA:37057 hp.json blood vessel of abdominal segment of trunk|abdominal segment of trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0003835 GO:0008212 biolink:NamedThing mineralocorticoid metabolic process hp.json http://purl.obolibrary.org/obo/GO_0008212 GO:0008211 biolink:NamedThing glucocorticoid metabolic process hp.json http://purl.obolibrary.org/obo/GO_0008211 UBERON:0015814 biolink:AnatomicalEntity outer ear epithelium An epithelium that is part of a external ear. MA:0003170|EMAPA:35956 hp.json http://purl.obolibrary.org/obo/UBERON_0015814 UBERON:0015813 biolink:AnatomicalEntity middle ear epithelium An epithelium that is part of a middle ear. EMAPA:35673|MA:0003169 hp.json http://purl.obolibrary.org/obo/UBERON_0015813 UBERON:0003843 biolink:AnatomicalEntity dental epithelium Epithelium that is part of a developing tooth or dental organ. XAO:0003203|EMAPA:32903|AAO:0011027|BTO:0001723|UMLS:C1709309|ZFA:0005134|NCIT:C54296|TAO:0005134|MA:0003151|VHOG:0001443 hp.json dental epithelium|tooth epithelium|odontogenic epithelium|reduced enamel epithelium|dental epithelia http://purl.obolibrary.org/obo/UBERON_0003843 vertebrate_core UBERON:0003844 biolink:AnatomicalEntity upper eyelid epithelium An epithelium that is part of an upper eyelid [Automatically generated definition]. EHDAA2:0002116|VHOG:0000638|EMAPA:17835 hp.json superior eyelid epithelial tissue|upper eyelid epithelial tissue|epithelial tissue of upper eyelid|epithelium of upper eyelid|epithelium of superior eyelid|superior eyelid epithelium|epithelial tissue of superior eyelid http://purl.obolibrary.org/obo/UBERON_0003844 UBERON:0003841 biolink:AnatomicalEntity autopod joint A limb joint that is part of an autopod [Automatically generated definition]. EMAPA:35160|MA:0002715 hp.json autopod joint of limb|paw joint|joint of limb of autopod|joint of limb of distal free limb segment|autopod limb joint|distal free limb segment limb joint|limb joint of autopod|limb joint of distal free limb segment|distal free limb segment joint of limb http://purl.obolibrary.org/obo/UBERON_0003841 UBERON:0003842 biolink:AnatomicalEntity neural tube lumen An anatomical space that surrounded_by a neural tube. EMAPA:16167|EHDAA2:0001269|XAO:0000252|VHOG:0001119|EHDAA:914|AAO:0011073|EHDAA:2889 hp.json neural tube neural lumen|cavity of neural tube|central lumen|cavity of neural tube|neural lumen|prosencoel|lumen of neural tube|neurocoel|lumen of neural tube http://purl.obolibrary.org/obo/UBERON_0003842 UBERON:0003840 biolink:AnatomicalEntity hindlimb joint A limb joint that is part of a hindlimb [Automatically generated definition]. MA:0000662|EMAPA:32635 hp.json joint of limb of hind limb|lower extremity joint of limb|joint of lower limb|joint of limb of lower extremity|limb joint of inferior member|joint of limb of hindlimb|limb joint of hind limb|lower extremity limb joint|joint of free lower limb|hindlimb limb joint|hind limb limb joint|inferior member joint of limb|limb joint of lower extremity|hind limb joint of limb|inferior member limb joint|hindlimb joint of limb|joint of limb of inferior member|limb joint of hindlimb http://purl.obolibrary.org/obo/UBERON_0003840 pheno_slim UBERON:0003829 biolink:AnatomicalEntity urethra muscle tissue Any muscle tissue that is part of the urethra. MA:0002649|EMAPA:37787 hp.json urethral muscle layer http://purl.obolibrary.org/obo/UBERON_0003829 GO:0035809 biolink:NamedThing regulation of urine volume hp.json http://purl.obolibrary.org/obo/GO_0035809 UBERON:0003827 biolink:AnatomicalEntity thoracic segment bone A bone that is part of a thorax [Automatically generated definition]. MA:0000559|SCTID:426649006|EMAPA:37247 hp.json upper body bone|bone organ of thorax|bone of thorax|thorax bone organ|thorax bone http://purl.obolibrary.org/obo/UBERON_0003827 UBERON:0003828 biolink:AnatomicalEntity abdominal segment bone A bone that is part of an abdominal segment of trunk [Automatically generated definition]. MA:0000525|EMAPA:37058 hp.json bone organ of abdominal segment of trunk|bone of abdominal segment of trunk|abdominal segment of trunk bone organ|abdominal segment of trunk bone http://purl.obolibrary.org/obo/UBERON_0003828 UBERON:0003825 biolink:AnatomicalEntity nerve of abdominal segment A nerve that is part of an abdominal segment of trunk [Automatically generated definition]. EMAPA:37061|MA:0000528 hp.json abdominal segment nerve http://purl.obolibrary.org/obo/UBERON_0003825 UBERON:0003826 biolink:AnatomicalEntity upper leg bone A bone that is part of a hindlimb stylopod [Automatically generated definition]. EMAPA:35893|MA:0000682 hp.json femur http://purl.obolibrary.org/obo/UBERON_0003826 UBERON:0003823 biolink:AnatomicalEntity hindlimb zeugopod The middle limb segment of the pelvic free limb, between the autopod and stylopod segments. Includes as parts the hindlimb zeugopodial skeleton, which includes as parts the tibia and fibula, or their cartilage precursors, or evolutionary variants. galen:Leg|NCIT:C32974|EFO:0003051|OpenCyc:Mx4rvczZBpwpEbGdrcN5Y29ycA|EHDAA:6190|EMAPA:17496|FMA:24979|MESH:D007866|UMLS:C1140621|VHOG:0000348|MA:0000051|VSAO:0005060|EHDAA:5165|EHDAA2:0001030|FMA:24984 hp.json hindlimb epipodium|middle limb segment of hind limb|regio surae|zeugopod of hind limb|posterior part of leg|crus of hindlimb|regio cruris posterior|posterior region of leg|lower extremity zeugopod|calf|lower leg|calf of leg|hind limb middle limb segment|middle limb segment of hindlimb|hindlimb zeugopod|hindlimb middle limb segment|crus|hind limb zeugopod|intermediate segment of free lower limb|leg|hindlimb zeugopodium|sural region|hind limb zeudopodium|lower extremity middle limb segment|posterior leg region|zeugopod of hindlimb|sura|posterior curral region|hind epipodium|hindlimb zeudopodium|shank http://purl.obolibrary.org/obo/UBERON_0003823 pheno_slim|efo_slim UBERON:0003824 biolink:AnatomicalEntity nerve of thoracic segment A nerve that is part of a thorax [Automatically generated definition]. MESH:D013900|MA:0000562|SCTID:359876006|EMAPA:37265 hp.json nerve of thorax|upper body nerve|thorax nerve|thoracic segment nerve http://purl.obolibrary.org/obo/UBERON_0003824 GO:0035805 biolink:CellularComponent egg coat A specialized extracellular matrix that surrounds the plasma membrane of the ovum of animals. The egg coat provides structural support and can play an essential role in oogenesis, fertilization and early development. hp.json zona pellucida|vitelline membrane http://purl.obolibrary.org/obo/GO_0035805 UBERON:0015807 biolink:AnatomicalEntity ear epithelium An epithelium that is part of a ear. MA:0003161|EMAPA:32800 hp.json http://purl.obolibrary.org/obo/UBERON_0015807 CHEBI:85425 biolink:ChemicalSubstance glycine transporter inhibitor Any substance that inhibits the action of glycine transporters. hp.json glycine transporter inhibitors http://purl.obolibrary.org/obo/CHEBI_85425 3_STAR UBERON:0015808 biolink:AnatomicalEntity eye epithelium An epithelium that is part of a camera-type eye. MA:0003162|EMAPA:35957 hp.json http://purl.obolibrary.org/obo/UBERON_0015808 UBERON:0003832 biolink:AnatomicalEntity esophagus muscle Any muscle organ that is part of a esophagus [Automatically generated definition]. EMAPA:26983|MA:0002682|SCTID:360961009 hp.json esophageal muscle|muscle organ of oesophagus|muscle organ of gullet|esophagus muscle organ|gullet muscle organ|oesophagus muscle organ|muscle organ of esophagus http://purl.obolibrary.org/obo/UBERON_0003832 UBERON:0003833 biolink:AnatomicalEntity abdominal segment muscle A muscle organ that is part of an abdominal segment of trunk [Automatically generated definition]. EMAPA:37060|MA:0000527 hp.json abdominal segment of trunk muscle organ|muscle organ of abdominal segment of trunk http://purl.obolibrary.org/obo/UBERON_0003833 UBERON:0003830 biolink:AnatomicalEntity thoracic segment muscle Any muscle organ that is part of a thorax [Automatically generated definition]. MA:0000561 hp.json muscle organ of thorax|thorax muscle organ|upper body muscle http://purl.obolibrary.org/obo/UBERON_0003830 UBERON:0003831 biolink:AnatomicalEntity respiratory system muscle Any muscle organ that is part of a respiratory system [Automatically generated definition]. MA:0001828|EMAPA:35733 hp.json muscle organ of respiratory system|muscle organ of apparatus respiratorius|respiratory system muscle organ|apparatus respiratorius muscle organ http://purl.obolibrary.org/obo/UBERON_0003831 CHEBI:24470 biolink:ChemicalSubstance haloamino acid Any non-proteinogenic amino acid carrying at least one halo group. hp.json haloamino acids http://purl.obolibrary.org/obo/CHEBI_24470 3_STAR CHEBI:24473 biolink:ChemicalSubstance halogen hp.json group VII elements|halogenes|Halogene|halogene|halogens|group 17 elements|halogeno|halogenos|halogen http://purl.obolibrary.org/obo/CHEBI_24473 3_STAR CHEBI:24471 biolink:ChemicalSubstance halogen molecular entity hp.json halogen molecular entity|halogen molecular entities|halogen compounds http://purl.obolibrary.org/obo/CHEBI_24471 3_STAR CHEBI:61469 biolink:ChemicalSubstance polyanionic polymer A polymer, composed of polyanion macromolecules. hp.json polyanions|polyanion http://purl.obolibrary.org/obo/CHEBI_61469 3_STAR GO:0060800 biolink:BiologicalProcess regulation of cell differentiation involved in embryonic placenta development Any process that modulates the rate, frequency or extent of cell differentiation that contributes to the progression of the placenta over time, from its initial condition to its mature state. hp.json http://purl.obolibrary.org/obo/GO_0060800 UBERON:0003821 biolink:AnatomicalEntity metapodium bone A bone of the metapodial skeleton. EMAPA:37284|MA:0000301 hp.json metacarpal/metatarsal|metacarpal or metatarsal bone|metapodium bone|metapodial bone|metacarpal/metatarsal bone|metapodi bone http://purl.obolibrary.org/obo/UBERON_0003821 UBERON:0003822 biolink:AnatomicalEntity forelimb stylopod The part of the forelimb between pectoral region and the elbow, corresponding to the humerus. VHOG:0000343|EMAPA:17424|VSAO:0005057|FMA:24890|galen:Arm|MA:0000035|EHDAA2:0002112|EHDAA:6234|MESH:D001132|AAO:0000199|NCIT:C32141|UMLS:C0446516|EHDAA:4186|OpenCyc:Mx4rvVj0Z5wpEbGdrcN5Y29ycA hp.json upper arm|fore propodium|stylopod of forelimb|brachium|proximal segment of free upper limb|forelimb stylopodial element|stylopod of arm|regio brachialis|forelimb propodium|wing stylopod|forelimb stylopodium|brachial region|arm http://purl.obolibrary.org/obo/UBERON_0003822 pheno_slim UBERON:0003820 biolink:AnatomicalEntity prostate bud A region of the fetal urogenital sinus epithelium destined to become the prostate[GO]. EMAPA:36141 hp.json prostate ductal progenitor|prostate primordium|prostatic bud|prostate gland bud http://purl.obolibrary.org/obo/UBERON_0003820 GO:0060806 biolink:BiologicalProcess negative regulation of cell differentiation involved in embryonic placenta development Any process that decreases the rate, frequency or extent of cell differentiation that contributes to the progression of the placenta over time, from its initial condition to its mature state. hp.json http://purl.obolibrary.org/obo/GO_0060806 UBERON:0015870 biolink:AnatomicalEntity lymph node of head A lymph node that is part of a head. FMA:61212 hp.json http://purl.obolibrary.org/obo/UBERON_0015870 UBERON:0001228 biolink:AnatomicalEntity renal papilla Tip of renal pyramid projecting into a minor calyx. EMAPA:35727|MESH:D007679|UMLS:C0022666|NCIT:C33460|FMA:15622|galen:RenalPapilla|MA:0002730|BTO:0003925 hp.json kidney papilla http://purl.obolibrary.org/obo/UBERON_0001228 pheno_slim|human_reference_atlas|uberon_slim UBERON:0003889 biolink:AnatomicalEntity fallopian tube Initial section of the oviduct through which the ova pass from the ovary to the uterus. EV:0100112|UMLS:C0015560|CALOHA:TS-0732|OpenCyc:Mx4rvViVeZwpEbGdrcN5Y29ycA|MESH:D005187|EHDAA2:0000504|galen:FallopianTube|SCTID:181463001|EMAPA:18984|EMAPA:35660|GAID:365|NCIT:C12403|FMA:18245|Wikipedia:Fallopian_tube|MA:0000385 hp.json female paramesonephric duct|salpinges|uterine tube (sensu Mammalia)|salpinx|tuba uterina|mammalian oviduct|fallopian tubes|tuba uterina|mammalian oviduct|paramesonephric duct of female http://purl.obolibrary.org/obo/UBERON_0003889 pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0001229 biolink:AnatomicalEntity renal corpuscle The structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron. EMAPA:35726|CALOHA:TS-1317|BTO:0000333|EV:0100385|FMA:15625|UMLS:C0227635|ZFA:0005281|EMAPA:28236|TAO:0005281|VHOG:0001262|NCIT:C33456|MA:0000376 hp.json kidney corpuscle|corpusculum renis|corpusculum renale|Malpighian corpuscle|Malphigian corpuscle|cortical renal corpuscle http://purl.obolibrary.org/obo/UBERON_0001229 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core HP:0032553 biolink:PhenotypicFeature Weak pulse A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse. hp.json http://purl.obolibrary.org/obo/HP_0032553 UBERON:0015875 biolink:AnatomicalEntity heel The part of the foot that is the projection of the calcaneus. MESH:D006365|FMA:24994 hp.json regio calcanea|calcaneal region|heel region http://purl.obolibrary.org/obo/UBERON_0015875 PATO:0001898 biolink:NamedThing increased circumference A circumference which is relatively high. hp.json http://purl.obolibrary.org/obo/PATO_0001898 value_slim HP:0032552 biolink:PhenotypicFeature Abnormal pulse An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart. hp.json http://purl.obolibrary.org/obo/HP_0032552 HP:0032555 biolink:PhenotypicFeature Bounding pulse Increased amplitude (strength) of the pulse. hp.json http://purl.obolibrary.org/obo/HP_0032555 HP:0032554 biolink:PhenotypicFeature Absent pulse The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination. hp.json http://purl.obolibrary.org/obo/HP_0032554 UBERON:0015871 biolink:AnatomicalEntity facial lymph node Any of the lymph nodes that are part of a face. FMA:61222 hp.json buccal lymph node http://purl.obolibrary.org/obo/UBERON_0015871 HP:0032551 biolink:PhenotypicFeature Hemorrhoids Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain. hp.json Haemorrhoids|Piles http://purl.obolibrary.org/obo/HP_0032551 PATO:0001899 biolink:NamedThing decreased circumference A circumference which is relatively low. hp.json http://purl.obolibrary.org/obo/PATO_0001899 value_slim UBERON:0015873 biolink:AnatomicalEntity heel skin A zone of skin that is part of a heel. EMAPA:37354|MA:0003104 hp.json skin of heel http://purl.obolibrary.org/obo/UBERON_0015873 HP:0032550 biolink:PhenotypicFeature Howell-Jolly bodies Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets. hp.json http://purl.obolibrary.org/obo/HP_0032550 UBERON:0003890 biolink:AnatomicalEntity Mullerian duct Paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. NCIT:C13260|VHOG:0001199|EMAPA:27665|GAID:1309|RETIRED_EHDAA2:0001399|SCTID:308802006|XAO:0000330|Wikipedia:Paramesonephric_duct|MESH:D009095|EHDAA2:0004048|UMLS:C0026732|AAO:0010141 hp.json paramesonephric duct|Müllerian duct|early paramesonephric duct|ductus paramesonephricus|Muellerian duct http://purl.obolibrary.org/obo/UBERON_0003890 pheno_slim PATO:0001890 biolink:NamedThing tripartite A concave 3-D shape quality inhering in a bearer by virtue of the bearer's being divided into three branches. hp.json trifurcate http://purl.obolibrary.org/obo/PATO_0001890 value_slim|cell_quality UBERON:0003891 biolink:AnatomicalEntity stroma Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. UMLS:C0927195|NCIT:C67387|FMA:81494 hp.json stromal connective tissue http://purl.obolibrary.org/obo/UBERON_0003891 grouping_class HP:0032557 biolink:PhenotypicFeature History of bone marrow transplant A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor. hp.json Status post haematopoietic stem cell transplantation|Status post hematopoietic stem cell transplantation http://purl.obolibrary.org/obo/HP_0032557 PATO:0001894 biolink:NamedThing phenotypic sex An organismal quality inhering in a bearer by virtue of the bearer's physical expression of sexual characteristics. hp.json http://purl.obolibrary.org/obo/PATO_0001894 attribute_slim HP:0032556 biolink:PhenotypicFeature Circumoral cyanosis Persistent blue color of the skin that surrounds the mouth. hp.json Bluish around mouth http://purl.obolibrary.org/obo/HP_0032556 PATO:0001891 biolink:NamedThing ovate A spheroid quality inhering in a bearer by virtue of the bearer's exhibiting a continuous convex surface with an axis of symmetry and one axis longer than the other; egg-shaped. hp.json egg-shaped|ovoid|oval|eccentric http://purl.obolibrary.org/obo/PATO_0001891 value_slim|mpath_slim|cell_quality HP:0032559 biolink:PhenotypicFeature Short sperm flagella Sperm cells with abnormally short flagella. hp.json http://purl.obolibrary.org/obo/HP_0032559 HP:0032558 biolink:PhenotypicFeature Absent sperm flagella Sperm cells lacking flagella. hp.json http://purl.obolibrary.org/obo/HP_0032558 UBERON:0001235 biolink:AnatomicalEntity adrenal cortex The thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone. NCIT:C12396|MAT:0000494|BTO:0000045|EMAPA:18427|GAID:447|MA:0000118|CALOHA:TS-0015|FMA:15632|AAO:0011009|UMLS:C0001613|VHOG:0001481|MESH:D000302|XAO:0000165|EFO:0000237|EV:0100136 hp.json cortex glandulae suprarenalis|suprarenal cortex|cortex (glandula suprarenalis)|cortex of suprarenal gland|suprarenal|cortex glandulae suprarenalis|adrenal gland cortex|cortex of adrenal gland http://purl.obolibrary.org/obo/UBERON_0001235 pheno_slim|efo_slim|uberon_slim UBERON:0003898 biolink:AnatomicalEntity skeletal muscle tissue of trunk A portion of skeletal muscle tissue in the trunk. SCTID:244848007 hp.json skeletal muscle of torso|skeletal muscle tissue of trunk|skeletal muscle tissue of torso|trunk skeletal muscle|torso skeletal muscle|torso skeletal muscle tissue|trunk skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0003898 UBERON:0001234 biolink:AnatomicalEntity left adrenal gland An adrenal gland that is in the left side of the abdomen. EMAPA:37356|NCIT:C49322|FMA:15630|UMLS:C0229560|MA:0000718 hp.json glandula suprarenalis sinister|left suprarenal gland http://purl.obolibrary.org/obo/UBERON_0001234 UBERON:0003897 biolink:AnatomicalEntity axial muscle One of the skeletal muscles of the head and neck, spine, and ribs. MA:0003153|TAO:0001954|EMAPA:18167|RETIRED_EHDAA2:0000160|EHDAA:5982 hp.json http://purl.obolibrary.org/obo/UBERON_0003897 pheno_slim UBERON:0001236 biolink:AnatomicalEntity adrenal medulla The inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine. BTO:0000049|NCIT:C12397|MAT:0000495|CALOHA:TS-0018|AAO:0011010|MA:0000119|VHOG:0001378|EMAPA:18428|FMA:15633|UMLS:C0001629|XAO:0000166|EV:0100137|GAID:451|EFO:0000852|MESH:D019439 hp.json chromaffin cells|medulla of adrenal gland|medulla glandulae suprarenalis|suprarenal medulla|medulla of glandula suprarenalis|medulla (glandula suprarenalis)|adrenal gland medulla|medulla of suprarenal gland|adrenal central medulla http://purl.obolibrary.org/obo/UBERON_0001236 pheno_slim|efo_slim|uberon_slim GO:0060837 biolink:BiologicalProcess blood vessel endothelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a blood vessel endothelial cell, a thin flattened cell that lines the inside surfaces of blood vessels. hp.json http://purl.obolibrary.org/obo/GO_0060837 UBERON:0003894 biolink:AnatomicalEntity liver primordium A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. UMLS:C0734013|EHDAA2:0000744|ZFA:0000124|UMLS:C1514451|EHDAA:973|BTO:0003391|TAO:0000124|EFO:0003428|XAO:0003266|NCIT:C34277|AAO:0011058|EFO:0002577|EMAPA:16847 hp.json hepatic plate|primordium of the liver|liver bud|liver endoderm|embryological hepatic plate http://purl.obolibrary.org/obo/UBERON_0003894 efo_slim|vertebrate_core|pheno_slim UBERON:0001231 biolink:AnatomicalEntity nephron tubule An epithelial tube that is part of the nephron, the functional part of the kidney. BTO:0000343|UMLS:C0022674|MESH:D007684|NCIT:C49274|GAID:433|MA:0000377|EMAPA:27782|ZFA:0001287|CALOHA:TS-1262|TAO:0001287|EV:0100387|FMA:15627|EFO:0003666 hp.json tubulus renalis|kidney tubule|renal tubule|uriniferous tubule http://purl.obolibrary.org/obo/UBERON_0001231 human_reference_atlas|efo_slim|uberon_slim|vertebrate_core|pheno_slim UBERON:0001230 biolink:AnatomicalEntity glomerular capsule A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus. TAO:0005310|TAO:0005254|UMLS:C0524448|BTO:0002297|EMAPA:27973|AAO:0010526|KUPO:0001001|EMAPA:28257|NCIT:C32225|MA:0001660|ZFA:0005310|ZFA:0005254|FMA:15626 hp.json Muellerian capsule|Bowman's capsule|Mueller capsule|Bowmans capsule|Bowman's capsule|renal glomerular capsule|capsula glomerularis|pronephric glomerular capsule|Malphigian capsule|capsula glomeruli|Malpighian capsule http://purl.obolibrary.org/obo/UBERON_0001230 uberon_slim|vertebrate_core|pheno_slim UBERON:0003895 biolink:AnatomicalEntity hypaxial myotome region Portion of myotome that is ventral to the horizontal septum. TAO:0001085|ZFA:0001085 hp.json body wall muscle|hypaxial myotome region http://purl.obolibrary.org/obo/UBERON_0003895 UBERON:0001233 biolink:AnatomicalEntity right adrenal gland An adrenal gland that is in the right side of the abdomen. UMLS:C0229559|MA:0000719|FMA:15629|EMAPA:37357|NCIT:C49325 hp.json glandula suprarenalis dexter|right suprarenal gland http://purl.obolibrary.org/obo/UBERON_0001233 UBERON:0001232 biolink:AnatomicalEntity collecting duct of renal tubule The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient. EMAPA:28407|BTO:0000761|ZFA:0005294|MESH:D007685|EV:0100391|CALOHA:TS-0860|GAID:434|TAO:0005294|FMA:15628|MA:0000371 hp.json junctional tube|tubulus renalis arcuatus|tubulus renalis colligens|kidney collecting duct|renal collecting tubule|ureteric tree|collecting tubule|collecting duct system|kidney collecting tubule|arcuate renal tubule|collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 human_reference_atlas|uberon_slim|vertebrate_core|pheno_slim UBERON:0003893 biolink:AnatomicalEntity capsule A cover or envelope partly or wholly surrounding a structure. Examples: egg shell, articular capsules, renal capsules[WP]. EHDAA:4739|FMA:85272|galen:Capsule|EHDAA:9061 hp.json http://purl.obolibrary.org/obo/UBERON_0003893 non_informative|grouping_class UBERON:0001217 biolink:AnatomicalEntity ileal vein The veins that drain blood from the ileum into the superior mesenteric vein. NCIT:C53046|EMAPA:37149|MA:0002140|FMA:15405|UMLS:C1301431 hp.json http://purl.obolibrary.org/obo/UBERON_0001217 human_reference_atlas UBERON:0001216 biolink:AnatomicalEntity jejunal vein A tributary of the superior mesenteric vein that drains the jejunum. MA:0002153|FMA:15402|EMAPA:37160 hp.json venae jejunales http://purl.obolibrary.org/obo/UBERON_0001216 human_reference_atlas HP:0032564 biolink:PhenotypicFeature Ileitis Inflammation of the ileum. hp.json Inflammation of the ileum http://purl.obolibrary.org/obo/HP_0032564 HP:0032563 biolink:PhenotypicFeature Dacryocytosis Presence of teardrop-shaped red blood cells. hp.json Tear-drop shaped erythrocytes|Dacryocytes http://purl.obolibrary.org/obo/HP_0032563 GO:0045202 biolink:CellularComponent synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. Wikipedia:Chemical_synapse|NIF_Subcellular:sao914572699 hp.json electrotonic synapse|synaptic junction|mixed synapse http://purl.obolibrary.org/obo/GO_0045202 goslim_drosophila|goslim_mouse|goslim_agr|goslim_synapse|goslim_pir|goslim_flybase_ribbon HP:0032566 biolink:PhenotypicFeature Oval macrocytosis Enlarged, oval-shaped erythrocytes (red blood cells). hp.json http://purl.obolibrary.org/obo/HP_0032566 HP:0032565 biolink:PhenotypicFeature Vaginal mucosal ulceration hp.json http://purl.obolibrary.org/obo/HP_0032565 GO:0045200 biolink:BiologicalProcess establishment of neuroblast polarity The specification and formation of the apicobasal polarity of a neuroblast cell, a progenitor of the central nervous system. hp.json establishment of neuroblast cell polarity http://purl.obolibrary.org/obo/GO_0045200 HP:0032560 biolink:PhenotypicFeature Coiled sperm flagella Sperm cells whose flagella are twisted (coiled). hp.json http://purl.obolibrary.org/obo/HP_0032560 UBERON:0015860 biolink:AnatomicalEntity visceral abdominal lymph node FMA:66178 hp.json http://purl.obolibrary.org/obo/UBERON_0015860 HP:0032562 biolink:PhenotypicFeature Tapered sperm head Sperm with cigar-shaped heads that gradually dimish in diameter (taper). hp.json http://purl.obolibrary.org/obo/HP_0032562 HP:0032561 biolink:PhenotypicFeature Microcephalic sperm head Decreased size of the head of sperm. hp.json Small-head sperm http://purl.obolibrary.org/obo/HP_0032561 HP:0032568 biolink:PhenotypicFeature Urinary mulberry cells Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance. hp.json http://purl.obolibrary.org/obo/HP_0032568 HP:0032567 biolink:PhenotypicFeature Lipiduria An increased lipid content in the urine. hp.json Urinary lipid excretion http://purl.obolibrary.org/obo/HP_0032567 HP:0032569 biolink:PhenotypicFeature Temporal bossing hp.json http://purl.obolibrary.org/obo/HP_0032569 UBERON:0003887 biolink:AnatomicalEntity intraembryonic coelom The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom. UMLS:C1512940|VHOG:0000316|EHDAA:251|NCIT:C34195|Wikipedia:Intraembryonic_coelom|EMAPA:16088 hp.json somatic coelom|somatic coelom http://purl.obolibrary.org/obo/UBERON_0003887 pheno_slim UBERON:0001224 biolink:AnatomicalEntity renal pelvis A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]. EMAPA:17948|GAID:426|UMLS:C0227666|galen:RenalPelvis|MESH:D007682|FMA:15575|NCIT:C12887|CALOHA:TS-2230|MA:0000374 hp.json pyelum|p. renallis|kidney pelvis|pelvis of ureter http://purl.obolibrary.org/obo/UBERON_0001224 pheno_slim|human_reference_atlas|uberon_slim UBERON:0001223 biolink:AnatomicalEntity left ureter An ureter that is part of a left side of organism [Automatically generated definition]. NCIT:C49324|UMLS:C0227683|EMAPA:37372|FMA:15572|MA:0001684 hp.json http://purl.obolibrary.org/obo/UBERON_0001223 UBERON:0003885 biolink:AnatomicalEntity mesometrium A mesentery that is part of a uterus [Automatically generated definition]. FMA:19816|MA:0002931|EMAPA:35562 hp.json mesentery of uterus http://purl.obolibrary.org/obo/UBERON_0003885 UBERON:0001225 biolink:AnatomicalEntity cortex of kidney Outer cortical portion of the kidney, between the renal capsule and the renal medulla. MA:0000372|CALOHA:TS-0503|galen:CortexOfKidney|NCIT:C12739|BTO:0001166|MESH:D007672|GAID:424|EMAPA:17952|UMLS:C0022655|FMA:15581 hp.json renal cortex|kidney cortex|cortex renalis http://purl.obolibrary.org/obo/UBERON_0001225 pheno_slim|human_reference_atlas|uberon_slim UBERON:0003886 biolink:AnatomicalEntity future coelemic cavity lumen An anatomical cavity that has the potential to develop into a coelemic cavity lumen. hp.json body cavity precursor|future coelomic cavity lumen http://purl.obolibrary.org/obo/UBERON_0003886 non_informative|grouping_class UBERON:0001222 biolink:AnatomicalEntity right ureter An ureter that is part of a right side of organism [Automatically generated definition]. EMAPA:37373|UMLS:C0227682|MA:0001685|FMA:15571|NCIT:C49327 hp.json http://purl.obolibrary.org/obo/UBERON_0001222 UBERON:0001221 biolink:AnatomicalEntity transversus abdominis muscle The lateral abdominal wall muscle that is deep to the internal oblique. MA:0002396|EHDAA2:0002078|UMLS:C0224378|EHDAA:8254|NCIT:C53179|FMA:15570|VHOG:0000845|EMAPA:18165 hp.json transversis abdominus|transversus abdominus muscle|transverse abdominal|transversus abdominis|transversus|transversalis muscle|transverse abdominal muscle|transverse abdominus|musculus transversus abdominis|transverse abdominal|transverse abdominis|musculus transversus abdominis|transversalis|transversus abdominis|transversus abdominus http://purl.obolibrary.org/obo/UBERON_0001221 uberon_slim|organ_slim UBERON:0001209 biolink:AnatomicalEntity serosa of large intestine A serous membrane that is part of a large intestine [Automatically generated definition]. UMLS:C1517727|EMAPA:37557|NCIT:C32929|FMA:14975|MA:0001546 hp.json visceral peritoneum of large intestine|large intestine serous membrane|tunica serosa intestini crassi|large intestine serosa|serous coat of large intestine|serous membrane of large intestine|large intestinal serosa http://purl.obolibrary.org/obo/UBERON_0001209 GO:1901706 biolink:BiologicalProcess mesenchymal cell differentiation involved in bone development The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of bone as it progresses from its formation to the mature state. hp.json http://purl.obolibrary.org/obo/GO_1901706 UBERON:0001206 biolink:AnatomicalEntity serosa of small intestine A serous membrane that is part of a small intestine [Automatically generated definition]. FMA:14938|EMAPA:37561|MA:0001558 hp.json small bowel serous membrane|tunica serosa intestini tenuis|small intestinal serosa|small intestine serosa|tunica serosa (intestinum tenue)|visceral peritoneum of small intestine|serous membrane of small bowel|small intestine serous membrane|small bowel serosa|serous coat of small intestine|serosa of small bowel|serous membrane of small intestine http://purl.obolibrary.org/obo/UBERON_0001206 UBERON:0003869 biolink:AnatomicalEntity presumptive ganglion A presumptive structure that has the potential to develop into a ganglion. hp.json http://purl.obolibrary.org/obo/UBERON_0003869 UBERON:0001205 biolink:AnatomicalEntity submucosa of small intestine Submucosal tissue in the small intestines. MA:0001562|FMA:14934|NCIT:C33572|EMAPA:37564|BTO:0002112|UMLS:C0227268 hp.json submucosa of small bowel|tela submucosa intestini tenuis|small bowel submucosa|tela submucosa (intestinum tenue)|small intestinal submucosa|small intestine submucosa http://purl.obolibrary.org/obo/UBERON_0001205 uberon_slim UBERON:0003867 biolink:AnatomicalEntity distal phalanx of pes A distal phalanx that is part of a pedal digit [Automatically generated definition]. NCIT:C52783|FMA:75830|MA:0001380|EMAPA:37310|UMLS:C0224026 hp.json ungual phalanx of foot|phalanx distalis pedis|foot distal phalanx|ungual phalanx of hindlimb|terminal phalanx of foot|distal phalanx of toe|distal pedal phalanx|distal phalanx of foot|terminal phalanx of hindlimb http://purl.obolibrary.org/obo/UBERON_0003867 pheno_slim GO:1901701 biolink:BiologicalProcess cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. hp.json cellular response to oxygen molecular entity http://purl.obolibrary.org/obo/GO_1901701 UBERON:0001208 biolink:AnatomicalEntity submucosa of large intestine A submucosa that is part of a large intestine [Automatically generated definition]. FMA:14970|NCIT:C32930|UMLS:C0734204|MA:0002690|BTO:0002111|EMAPA:37560 hp.json large intestinal submucosa|tela submucosa intestini crassi|large intestine submucosa|submucous layer of large intestine http://purl.obolibrary.org/obo/UBERON_0001208 UBERON:0001207 biolink:AnatomicalEntity mucosa of large intestine A mucosa that is part of a large intestine [Automatically generated definition]. MA:0002688|FMA:14969|NCIT:C32926|CALOHA:TS-2106|UMLS:C0734203|EMAPA:35467 hp.json large intestine organ mucosa|large intestine mucosa|organ mucosa of large intestine|large intestine mucosa of organ|mucous membrane of large intestine|mucosa of organ of large intestine|large intestinal mucosa|large intestine mucous membrane|tunica mucosa intestini crassi http://purl.obolibrary.org/obo/UBERON_0001207 UBERON:0003868 biolink:AnatomicalEntity proximal phalanx of pes A proximal phalanx that is part of a pedal digit [Automatically generated definition]. MA:0001387|EMAPA:37312|UMLS:C0224020|FMA:75828|NCIT:C52785 hp.json phalanx proximalis pedis|proximal pedal phalanx|foot proximal phalanx|proximal phalanx of foot|proximal phalanx of foot digit|proximal phalanx of pes|proximal phalanx of toe|proximal phalanx of hind digit http://purl.obolibrary.org/obo/UBERON_0003868 pheno_slim HP:0032575 biolink:PhenotypicFeature Decreased circulating 12-HETE A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. hp.json Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration http://purl.obolibrary.org/obo/HP_0032575 UBERON:0015854 biolink:AnatomicalEntity interpedicular line An anatomical line that connects two successive vertebral pedicles. The length of this line is known as the interpedicular distance. hp.json interpedicular distance|inter-vertebral-pedicle line http://purl.obolibrary.org/obo/UBERON_0015854 GO:1901700 biolink:BiologicalProcess response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. hp.json response to oxygen molecular entity http://purl.obolibrary.org/obo/GO_1901700 GO:0045216 biolink:BiologicalProcess cell-cell junction organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells. hp.json cell-cell junction biogenesis|intercellular junction assembly and maintenance|cell-cell junction organisation|cell-cell junction assembly and maintenance http://purl.obolibrary.org/obo/GO_0045216 HP:0032574 biolink:PhenotypicFeature Elevated urinary uridine level Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond. hp.json Elevated uridine in urine http://purl.obolibrary.org/obo/HP_0032574 UBERON:0015853 biolink:AnatomicalEntity dental pulp of median incisor tusk A dental pulp that is part of a narwhal tusk. hp.json http://purl.obolibrary.org/obo/UBERON_0015853 HP:0032577 biolink:PhenotypicFeature Clonal T cell receptor rearrangement Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone. hp.json http://purl.obolibrary.org/obo/HP_0032577 GO:0045214 biolink:BiologicalProcess sarcomere organization The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. hp.json sarcomere organisation|sarcomere alignment http://purl.obolibrary.org/obo/GO_0045214 HP:0032576 biolink:PhenotypicFeature Intracellular accumulation of Dol-PP-GlcNAc2Man5 Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol. hp.json http://purl.obolibrary.org/obo/HP_0032576 UBERON:0015850 biolink:AnatomicalEntity upper left incisor tusk hp.json http://purl.obolibrary.org/obo/UBERON_0015850 HP:0032571 biolink:PhenotypicFeature Increased oocyte death An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization. hp.json http://purl.obolibrary.org/obo/HP_0032571 HP:0032570 biolink:PhenotypicFeature Pontine ischemic lacunes Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons. hp.json Pontine ischaemic lacunes http://purl.obolibrary.org/obo/HP_0032570 HP:0032573 biolink:PhenotypicFeature Elevated urinary cytidine Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond. hp.json http://purl.obolibrary.org/obo/HP_0032573 UBERON:0015852 biolink:AnatomicalEntity narwhal tusk A upper jaw incisor that protrudes prominently from the mouth as a single median tusk, found in narwhals. hp.json median incisor tusk http://purl.obolibrary.org/obo/UBERON_0015852 UBERON:0015851 biolink:AnatomicalEntity upper right incisor tusk hp.json http://purl.obolibrary.org/obo/UBERON_0015851 HP:0032572 biolink:PhenotypicFeature Abnormal urinary nucleobase concentration A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U). hp.json http://purl.obolibrary.org/obo/HP_0032572 HP:0032579 biolink:PhenotypicFeature Vascular hamartoma A benign focal growth composed of vascular tissue. hp.json http://purl.obolibrary.org/obo/HP_0032579 UBERON:0015847 biolink:AnatomicalEntity upper left incisor tooth A upper jaw incisor that is in_the_left_side_of a dentition. hp.json http://purl.obolibrary.org/obo/UBERON_0015847 UBERON:0015846 biolink:AnatomicalEntity incisor mesenchyme An odontogenic mesenchyme that is part of a incisor tooth. EMAPA:32894|MA:0003229 hp.json http://purl.obolibrary.org/obo/UBERON_0015846 HP:0032578 biolink:PhenotypicFeature Third ventricle colloid cyst An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus. hp.json http://purl.obolibrary.org/obo/HP_0032578 UBERON:0015849 biolink:AnatomicalEntity canine tusk An cuspid tooth that protrudes beyond the mouth. hp.json http://purl.obolibrary.org/obo/UBERON_0015849 UBERON:0015848 biolink:AnatomicalEntity incisor tusk An incisor tooth that protrudes beyond the mouth. hp.json http://purl.obolibrary.org/obo/UBERON_0015848 UBERON:0001213 biolink:AnatomicalEntity intestinal villus The tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold. ZFA:0005125|TAO:0005125|FMA:15072|EMAPA:35784|BTO:0003121|UMLS:C1519988|NCIT:C33874|MA:0001563 hp.json villi intestinales|villus intestinalis (intestinum tenue)|intestinal villi|enteric villi|villi intestinales|intestinal villus layer|enteric villus|small intestine villus|villus|enteric villous http://purl.obolibrary.org/obo/UBERON_0001213 pheno_slim|uberon_slim|vertebrate_core UBERON:0001212 biolink:AnatomicalEntity duodenal gland A compound tubular submucosal gland found in that portion of the duodenum which is above the hepatopancreatic sphincter (Sphincter of Oddi). The main function of these glands is to produce a mucus-rich alkaline secretion (containing bicarbonate)[WP]. MA:0001551|FMA:15060|MESH:D002011|NCIT:C13010|BTO:0002376|UMLS:C0006323|EMAPA:36522|GAID:314 hp.json glandula duodenales|gland of Brunner|glandula duodenales Brunneri|submucosal gland of duodenum|Brunner's gland http://purl.obolibrary.org/obo/UBERON_0001212 pheno_slim|uberon_slim|organ_slim UBERON:0001215 biolink:AnatomicalEntity inferior mesenteric vein A blood vessel that drains blood from the large intestine that usually terminates when reaching the splenic vein, which goes on to form the portal vein with the superior mesenteric vein (SMV). Anatomical variations include the IMV draining into the confluence of the SMV and splenic vein and the IMV draining in the SMV. The IMV lies to the right of the similarly name artery, the inferior mesenteric artery, which originates from the abdominal aorta. [WP,unvetted]. MA:0002178|UMLS:C0226754|NCIT:C32782|EHDAA:8712|EHDAA2:0000819|FMA:15391|SCTID:281055007|VHOG:0001118|OpenCyc:Mx4rvcV53ZwpEbGdrcN5Y29ycA|BTO:0002782|Wikipedia:Inferior_mesenteric_vein|EMAPA:18642 hp.json vena mesenterica inferior|lower mesenteric vein|vena mesenterica inferior http://purl.obolibrary.org/obo/UBERON_0001215 human_reference_atlas|uberon_slim CHEBI:24433 biolink:ChemicalSubstance group A defined linked collection of atoms or a single atom within a molecular entity. hp.json Gruppe|grupos|grupo|groupe|Rest|group http://purl.obolibrary.org/obo/CHEBI_24433 3_STAR HP:0032580 biolink:PhenotypicFeature Abnormal bulbus cordis morphology Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis. hp.json http://purl.obolibrary.org/obo/HP_0032580 CHEBI:24432 biolink:ChemicalSubstance biological role A role played by the molecular entity or part thereof within a biological context. hp.json biological function http://purl.obolibrary.org/obo/CHEBI_24432 3_STAR CHEBI:24431 biolink:ChemicalSubstance chemical entity A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances. hp.json chemical entity http://purl.obolibrary.org/obo/CHEBI_24431 3_STAR UBERON:0003858 biolink:AnatomicalEntity lower eyelid mesenchyme Mesenchyme that is part of a developing lower eyelid [Automatically generated definition]. EHDAA2:0001017|VHOG:0001036|EMAPA:17833|EHDAA:9045 hp.json mesenchyme of inferior eyelid|mesenchyme of lower eyelid|inferior eyelid mesenchyme http://purl.obolibrary.org/obo/UBERON_0003858 UBERON:0003859 biolink:AnatomicalEntity forelimb mesenchyme Mesenchyme that is part of a developing forelimb [Automatically generated definition]. EMAPA:32628|VHOG:0001109 hp.json mesenchyme of forelimb|superior member mesenchyme|wing mesenchyme|mesenchyme of superior member|mesenchyme of anteriormost limb|mesenchyme of upper extremity|mesenchyme of fore limb|wing mesenchyme|fore limb mesenchyme|upper extremity mesenchyme|anteriormost limb mesenchyme http://purl.obolibrary.org/obo/UBERON_0003859 CHEBI:24436 biolink:ChemicalSubstance guanidines Any organonitrogen compound containing a carbamimidamido (guanidino) group. Guanidines have the general structure (R(1)R(2)N)(R(3)R(4)N)C=N-R(5) and are related structurally to amidines and ureas. hp.json http://purl.obolibrary.org/obo/CHEBI_24436 3_STAR UBERON:0003856 biolink:AnatomicalEntity uncondensed odontogenic mesenchyme Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. ZFA:0005139|VHOG_RETIRED:0001444|TAO:0005139|MA:0003152|EMAPA:32891 hp.json enamel organ mesenchyme|dental mesenchyme|dental organ mesenchyme|tooth enamel organ mesenchyme|tooth mesenchyme http://purl.obolibrary.org/obo/UBERON_0003856 vertebrate_core UBERON:0003857 biolink:AnatomicalEntity upper eyelid mesenchyme Mesenchyme that is part of a developing upper eyelid [Automatically generated definition]. EHDAA2:0002117|EHDAA:9051|VHOG:0001093|EMAPA:17836 hp.json mesenchyme of upper eyelid|mesenchyme of superior eyelid|superior eyelid mesenchyme http://purl.obolibrary.org/obo/UBERON_0003857 HP:0032586 biolink:PhenotypicFeature Renal interstitial plasma cell infiltration Increased numbers of plasma cells in the interstitial tissues of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0032586 UBERON:0015843 biolink:AnatomicalEntity molar enamel organ EMAPA:32880|MA:0003228 hp.json http://purl.obolibrary.org/obo/UBERON_0015843 HP:0032585 biolink:PhenotypicFeature Renal interstitial eosinophil infiltration Increased numbers of eosinophils in the interstitial tissues of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0032585 UBERON:0015842 biolink:AnatomicalEntity incisor enamel organ A tooth enamel organ that is part of a incisor tooth. EMAPA:32895|MA:0003227 hp.json http://purl.obolibrary.org/obo/UBERON_0015842 GO:0045224 biolink:BiologicalProcess positive regulation of CD4 production Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of CD4. hp.json up regulation of CD4 biosynthetic process|positive regulation of CD4 anabolism|stimulation of CD4 biosynthetic process|up-regulation of CD4 biosynthetic process|activation of CD4 biosynthetic process|positive regulation of CD4 synthesis|positive regulation of CD4 formation|upregulation of CD4 biosynthetic process|positive regulation of CD4 biosynthetic process|positive regulation of CD4 biosynthesis http://purl.obolibrary.org/obo/GO_0045224 HP:0032588 biolink:PhenotypicFeature Hand apraxia Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. hp.json Lack of purposeful hand use http://purl.obolibrary.org/obo/HP_0032588 UBERON:0015844 biolink:AnatomicalEntity molar dental papilla MA:0003232|EMAPA:32882 hp.json molar odontogenic papilla|molar tooth odontogenic papilla http://purl.obolibrary.org/obo/UBERON_0015844 GO:0045225 biolink:BiologicalProcess negative regulation of CD4 production Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of CD4. hp.json downregulation of CD4 biosynthetic process|negative regulation of CD4 anabolism|down regulation of CD4 biosynthetic process|inhibition of CD4 biosynthetic process|negative regulation of CD4 synthesis|down-regulation of CD4 biosynthetic process|negative regulation of CD4 biosynthetic process|negative regulation of CD4 biosynthesis|negative regulation of CD4 formation http://purl.obolibrary.org/obo/GO_0045225 HP:0032587 biolink:PhenotypicFeature Renal interstitial calcium oxalate The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0032587 GO:0045222 biolink:BiologicalProcess CD4 biosynthetic process The chemical reactions and pathways resulting in the formation of CD4, a CD marker that occurs on T-helper cells and is involved in MHC class II restricted interactions. hp.json CD4 anabolism|CD4 biosynthesis|CD4 synthesis|CD4 formation http://purl.obolibrary.org/obo/GO_0045222 HP:0032582 biolink:PhenotypicFeature Renal interstitial foam cells Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. hp.json http://purl.obolibrary.org/obo/HP_0032582 HP:0032581 biolink:PhenotypicFeature Abnormal renal insterstitial morphology Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. hp.json http://purl.obolibrary.org/obo/HP_0032581 GO:0045223 biolink:BiologicalProcess regulation of CD4 production Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of CD4. hp.json regulation of CD4 formation|regulation of CD4 biosynthetic process|regulation of CD4 biosynthesis|regulation of CD4 anabolism|regulation of CD4 synthesis http://purl.obolibrary.org/obo/GO_0045223 HP:0032584 biolink:PhenotypicFeature Renal interstitial neutrophil infiltration Increased numbers of neutrophils in the interstitial tissues of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0032584 HP:0032583 biolink:PhenotypicFeature Renal glomerular foam cells hp.json http://purl.obolibrary.org/obo/HP_0032583 UBERON:0015839 biolink:AnatomicalEntity molar epithelium MA:0003224|EMAPA:32878 hp.json epithelium of molar tooth|epithelium of molar http://purl.obolibrary.org/obo/UBERON_0015839 GO:0060840 biolink:BiologicalProcess artery development The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed. hp.json http://purl.obolibrary.org/obo/GO_0060840 GO:0060841 biolink:BiologicalProcess venous blood vessel development The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed. hp.json http://purl.obolibrary.org/obo/GO_0060841 GO:0060842 biolink:BiologicalProcess arterial endothelial cell differentiation The process in which a relatively unspecialized endothelial cell acquires specialized features of an arterial endothelial cell, a thin flattened cell that lines the inside surfaces of arteries. hp.json http://purl.obolibrary.org/obo/GO_0060842 HP:0032589 biolink:PhenotypicFeature Renal lymphocytic tubulitis Infiltration of the renal tubular epithelium by lymphocytes. hp.json http://purl.obolibrary.org/obo/HP_0032589 GO:0060843 biolink:BiologicalProcess venous endothelial cell differentiation The process in which a relatively unspecialized endothelial cell acquires specialized features of a venous endothelial cell, a thin flattened cell that lines the inside surfaces of veins. hp.json http://purl.obolibrary.org/obo/GO_0060843 UBERON:0015838 biolink:AnatomicalEntity molar dental pulp FMA:294469|MA:0003222|EMAPA:35576 hp.json http://purl.obolibrary.org/obo/UBERON_0015838 GO:0045229 biolink:BiologicalProcess external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. hp.json external encapsulating structure organisation|external encapsulating structure organization and biogenesis http://purl.obolibrary.org/obo/GO_0045229 goslim_pir UBERON:0015837 biolink:AnatomicalEntity incisor dental pulp A dental pulp that is part of a incisor tooth. FMA:294459|EMAPA:35429|MA:0003221 hp.json http://purl.obolibrary.org/obo/UBERON_0015837 UBERON:0003865 biolink:AnatomicalEntity distal phalanx of manus A distal phalanx that is part of a finger [Automatically generated definition]. EMAPA:35393|FMA:75818|UMLS:C1269782|NCIT:C52784|MA:0001388 hp.json distal manual phalanx|distal phalanx of finger|terminal phalanx of hand|distal phalanx of manual digit|phalanx distalis manus|distal phalanx of hand|hand distal phalanx|ungual phalanx of hand http://purl.obolibrary.org/obo/UBERON_0003865 pheno_slim UBERON:0001202 biolink:AnatomicalEntity pyloric sphincter A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. FMA:14916|NCIT:C33433|EMAPA:19251|VHOG:0001466|XAO:0000457|OpenCyc:Mx4rvly2ZZwpEbGdrcN5Y29ycA|AAO:0011093|MA:0002952|UMLS:C0227238 hp.json pyloric valve http://purl.obolibrary.org/obo/UBERON_0001202 pheno_slim|uberon_slim UBERON:0001201 biolink:AnatomicalEntity serosa of stomach The outermost layer of the stomach wall, consisting of layers of connective tissue continuous with the peritoneum. NCIT:C32662|SCTID:1353004|FMA:14914|EMAPA:35822|UMLS:C1517453|MA:0001626 hp.json serous membrane of anatomical wall of ventriculus|serous coat of stomach|ventriculus anatomical wall serosa|stomach wall serosa|serous membrane of wall of ventriculus|wall of stomach serous membrane|ventriculus anatomical wall serous membrane|stomach wall serous membrane|wall of stomach serosa|serosa of stomach wall|serous membrane of gastric wall|serosa of stomach anatomical wall|tunica serosa gastricae|serous membrane of anatomical wall of stomach|gastric serosa|anatomical wall of stomach serosa|tunica serosa (gaster)|serous membrane of wall of stomach|stomach serosa|wall of ventriculus serosa|stomach anatomical wall serous membrane|gastric wall serosa|ventriculus wall serous membrane|serosa of ventriculus wall|serous membrane of ventriculus anatomical wall|serosa of wall of ventriculus|serous membrane of stomach wall|serosa of anatomical wall of ventriculus|visceral peritoneum of stomach|anatomical wall of ventriculus serous membrane|anatomical wall of ventriculus serosa|ventriculus wall serosa|stomach anatomical wall serosa|serosa of gastric wall|wall of ventriculus serous membrane|serous membrane of stomach anatomical wall|gastric wall serous membrane|serosa of wall of stomach|serosa of anatomical wall of stomach|anatomical wall of stomach serous membrane|serosa of ventriculus anatomical wall|serous membrane of ventriculus wall http://purl.obolibrary.org/obo/UBERON_0001201 pheno_slim UBERON:0003866 biolink:AnatomicalEntity middle phalanx of pes A middle phalanx that is part of a toe [Automatically generated definition]. MA:0001386|EMAPA:37311|FMA:75829 hp.json phalanx media pedis|foot middle phalanx|middle pedal phalanx|middle phalanx of toe|middle phalanx of foot http://purl.obolibrary.org/obo/UBERON_0003866 pheno_slim UBERON:0001204 biolink:AnatomicalEntity mucosa of small intestine A mucosa that is part of a small intestine [Automatically generated definition]. EMAPA:35780|MA:0002686|BTO:0001259|FMA:14933|CALOHA:TS-0941|UMLS:C0227261|NCIT:C33568 hp.json mucosa of small bowel|small bowel mucosa|mucosa of organ of small bowel|small bowel organ mucosa|small bowel mucous membrane|tunica mucosa (intestinum tenue)|organ mucosa of small intestine|small intestine mucosa of organ|mucous membrane of small intestine|mucosa of organ of small intestine|small intestine mucosa|small intestinal mucosa|small intestine organ mucosa|small intestine mucous membrane|tunica mucosa intestini tenuis|organ mucosa of small bowel|small bowel mucosa of organ|mucous membrane of small bowel http://purl.obolibrary.org/obo/UBERON_0001204 UBERON:0003863 biolink:AnatomicalEntity pedal digit 5 phalanx A phalanx that is part of a foot digit 5 [Automatically generated definition]. MA:0001385|EMAPA:19132|FMA:32902|UMLS:C1708088|NCIT:C52782 hp.json phalanx of little toe|foot digit 5 phalanx|hind limb digit 5 phalanx|foot digit 5 digit long bone|long bone of digit of foot digit 5|phalanx of fifth toe|pedal digit V phalanx|phalanx of foot digit 5|foot digit 5 phalanx|phalanx of fifth digit of foot|digit long bone of foot digit 5|little toe phalanx|foot digit 5 long bone of digit http://purl.obolibrary.org/obo/UBERON_0003863 pheno_slim UBERON:0003864 biolink:AnatomicalEntity middle phalanx of manus A middle phalanx that is part of a finger [Automatically generated definition]. NCIT:C12863|MA:0001394|FMA:75817|EMAPA:37306|UMLS:C0223828 hp.json phalanx media manus|middle phalanx of manual digit|middle manual phalanx|hand middle phalanx|middle phalanx of finger|middle phalanx of hand http://purl.obolibrary.org/obo/UBERON_0003864 pheno_slim UBERON:0003861 biolink:AnatomicalEntity neural arch Posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine. OpenCyc:Mx4rwKYHvZwpEbGdrcN5Y29ycA|TAO:0001066|UMLS:C0223076|AAO:0000725|VHOG:0001670|NCIT:C32138|EFO:0003618|FMA:11946|MA:0001453|ZFA:0001066 hp.json arcus vertebrae|arcus vertebrae (vertebralis)|dorsal arcocentrum|arcus vertebra|arcus vertebrae|vertebra dorsal arch|vertebra neural arch http://purl.obolibrary.org/obo/UBERON_0003861 pheno_slim|efo_slim|vertebrate_core UBERON:0003862 biolink:AnatomicalEntity pedal digit 4 phalanx A phalanx that is part of a foot digit 4 [Automatically generated definition]. NCIT:C52781|MA:0001384|EMAPA:19130|UMLS:C1708086|FMA:32901 hp.json pedal digit IV phalanx|hind limb digit 4 phalanx|foot digit 4 digit long bone|long bone of digit of foot digit 4|foot digit 4 phalanx|fourth toe phalanx|foot digit 4 phalanx|phalanx of foot digit 4|foot digit 4 long bone of digit|digit long bone of foot digit 4|phalanx of fourth toe http://purl.obolibrary.org/obo/UBERON_0003862 pheno_slim UBERON:0001200 biolink:AnatomicalEntity submucosa of stomach The fibrous connective tissue layer beneath the stomach mucosa. MA:0002685|NCIT:C32663|EMAPA:35825|UMLS:C0227211|SCTID:52459002|BTO:0002110|FMA:14908 hp.json stomach submucosa|submucous layer of stomach|tela submucosa gastricae|gastric submucosa|submucosa of ventriculus|tela submucosa (gaster)|ventriculus submucosa|tela submucosa ventriculi http://purl.obolibrary.org/obo/UBERON_0001200 pheno_slim UBERON:0003860 biolink:AnatomicalEntity hindlimb mesenchyme Mesenchyme that is part of a developing hindlimb [Automatically generated definition]. VHOG:0001074|EMAPA:32637 hp.json mesenchyme of hind limb|mesenchyme of hindlimb|mesenchyme of lower extremity|lower extremity mesenchyme|hind limb mesenchyme|inferior member mesenchyme|mesenchyme of inferior member http://purl.obolibrary.org/obo/UBERON_0003860 UBERON:4200172 biolink:AnatomicalEntity neck of humerus NCIT:C33164|FMA:23356 hp.json collum anatomicum (Humerus)|humeral neck|anatomic neck of humerus|collum anatomicum humeri http://purl.obolibrary.org/obo/UBERON_4200172 PATO:0001854 biolink:NamedThing vertical A spatial pattern inhering in a bearer by virtue of the bearer's being situated at right angles to the horizon. hp.json http://purl.obolibrary.org/obo/PATO_0001854 value_slim HP:0032511 biolink:PhenotypicFeature Superiorly positioned umbilicus The position of the umbilicus (belly button) is abnormally high (superior). hp.json http://purl.obolibrary.org/obo/HP_0032511 PATO:0001851 biolink:NamedThing swollen A structure quality inhering in a bearer by virtue of the bearer's exhibiting transient abnormal enlargement, not due to cell proliferation. hp.json swelling http://purl.obolibrary.org/obo/PATO_0001851 value_slim|mpath_slim GO:0008289 biolink:MolecularActivity lipid binding Binding to a lipid. hp.json http://purl.obolibrary.org/obo/GO_0008289 goslim_flybase_ribbon|goslim_drosophila|goslim_chembl|goslim_mouse|goslim_candida|goslim_agr|goslim_yeast|goslim_generic|goslim_pir|goslim_plant PATO:0001852 biolink:NamedThing dislocated A positional quality inhering in a bearer by virtue of the bearer's being out of its usual or proper place, or position. hp.json dislocation|luxated|relational dislocated quality|luxation http://purl.obolibrary.org/obo/PATO_0001852 value_slim|mpath_slim HP:0032510 biolink:PhenotypicFeature Tendon pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon. hp.json http://purl.obolibrary.org/obo/HP_0032510 PATO:0001857 biolink:NamedThing concave A shape quality in a bearer by virtue of the bearer's curving inward. hp.json http://purl.obolibrary.org/obo/PATO_0001857 cell_quality|value_slim PATO:0001855 biolink:NamedThing horizontal A positional quality inhering in a bearer by virtue of the bearer's being in the plane of the horizon. hp.json http://purl.obolibrary.org/obo/PATO_0001855 value_slim GO:0008285 biolink:BiologicalProcess negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. hp.json downregulation of cell proliferation|down regulation of cell proliferation|inhibition of cell proliferation|down-regulation of cell proliferation|negative regulation of cell proliferation http://purl.obolibrary.org/obo/GO_0008285 HP:0032517 biolink:PhenotypicFeature Majocchi's granuloma Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles. hp.json http://purl.obolibrary.org/obo/HP_0032517 GO:0033240 biolink:BiologicalProcess positive regulation of cellular amine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines. hp.json positive regulation of amine metabolism http://purl.obolibrary.org/obo/GO_0033240 HP:0007549 biolink:PhenotypicFeature Desquamation of skin soon after birth UMLS:C1842714 hp.json http://purl.obolibrary.org/obo/HP_0007549 HP:0032516 biolink:PhenotypicFeature Invasive dermatophyte infection Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails. hp.json http://purl.obolibrary.org/obo/HP_0032516 HP:0032519 biolink:PhenotypicFeature Increased Burr cell count Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals. hp.json http://purl.obolibrary.org/obo/HP_0032519 HP:0032518 biolink:PhenotypicFeature Disseminated dermatophytosis A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs. hp.json http://purl.obolibrary.org/obo/HP_0032518 HP:0007546 biolink:PhenotypicFeature Linear hyperpigmentation UMLS:C3278658 hp.json http://purl.obolibrary.org/obo/HP_0007546 HP:0032513 biolink:PhenotypicFeature Four-vessel umbilical cord Four-vessel umbilical cord containing two arteries and two veins. hp.json http://purl.obolibrary.org/obo/HP_0032513 HP:0007545 biolink:PhenotypicFeature Congenital palmoplantar hyperkeratosis Abnormal thickening of the skin on the palms and soles that is present at birth. UMLS:C1855633 hp.json Congenital palmoplantar keratosis|Congenital palmoplantar keratodermia|Congenital palmoplantar keratoderma http://purl.obolibrary.org/obo/HP_0007545 PATO:0001850 biolink:NamedThing scarred A structural quality inhering in a bearer by virtue of the bearer's being fibrous tissue that replaces normal tissue destroyed by injury or disease. hp.json http://purl.obolibrary.org/obo/PATO_0001850 value_slim|mpath_slim HP:0032515 biolink:PhenotypicFeature Deep dermatophytosis A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements. hp.json http://purl.obolibrary.org/obo/HP_0032515 HP:0007548 biolink:PhenotypicFeature obsolete Palmoplantar keratosis with erythema and scale hp.json http://purl.obolibrary.org/obo/HP_0007548 HP:0032514 biolink:PhenotypicFeature Duplicated lacrimal punctum A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face. hp.json Lacrimal punctum, duplication|Double lacrimal puncta http://purl.obolibrary.org/obo/HP_0032514 HP:0007542 biolink:PhenotypicFeature Absent pigmentation of the ventral chest Lack of skin pigmentation (coloring) of the anterior chest. UMLS:C4024848 hp.json http://purl.obolibrary.org/obo/HP_0007542 HP:0007541 biolink:PhenotypicFeature Frontal cutaneous lipoma Presence of a cutaneous lipoma on the forehead. NCIT:C3192|UMLS:C1850970 hp.json http://purl.obolibrary.org/obo/HP_0007541 HP:0007544 biolink:PhenotypicFeature Piebaldism Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. SNOMEDCT_US:6479008|UMLS:C0080024|MSH:D016116|SNOMEDCT_US:718122005 hp.json http://purl.obolibrary.org/obo/HP_0007544 HP:0007543 biolink:PhenotypicFeature Epidermal hyperkeratosis UMLS:C1848773 hp.json Increased thickness of skin epidermis http://purl.obolibrary.org/obo/HP_0007543 GO:0033239 biolink:BiologicalProcess negative regulation of cellular amine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines. hp.json negative regulation of amine metabolism http://purl.obolibrary.org/obo/GO_0033239 GO:0033238 biolink:BiologicalProcess regulation of cellular amine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines. hp.json regulation of amine metabolism http://purl.obolibrary.org/obo/GO_0033238 HP:0032520 biolink:PhenotypicFeature Masseter muscular weakness Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw. hp.json http://purl.obolibrary.org/obo/HP_0032520 PATO:0001865 biolink:NamedThing spheroid A convex 3-D shape quality inhering in a bearer by virtue of the bearer's having a quadric surface in three dimensions obtained by rotating an ellipse about one of its principal axes. Includes spheres and oblate/prolate spheroids. hp.json sphericality http://purl.obolibrary.org/obo/PATO_0001865 value_slim|mpath_slim|cell_quality HP:0032522 biolink:PhenotypicFeature Ameliorated by immunosuppresion Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication. hp.json Immunosupressive therapy improves condition http://purl.obolibrary.org/obo/HP_0032522 PATO:0001863 biolink:NamedThing chronic A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. hp.json http://purl.obolibrary.org/obo/PATO_0001863 hpo_slim|value_slim|mpath_slim HP:0032521 biolink:PhenotypicFeature Self hugging Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting. hp.json Spasmodic upper-body squeeze http://purl.obolibrary.org/obo/HP_0032521 PATO:0001869 biolink:NamedThing pathological A quality inhering in a bearer by virtue of the bearer's being abnormal and having a destructive effect on living tissue. hp.json http://purl.obolibrary.org/obo/PATO_0001869 abnormal_slim|value_slim HP:0032528 biolink:PhenotypicFeature Elevated urinary 4-hydroxybutyric acid An increased amount of 4-hydroxybutyric acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032528 HP:0032527 biolink:PhenotypicFeature Inferiorly positioned umbilicus The position of the umbilicus (belly button) is abnormally low (inferior). hp.json Low-set umbilicus|Low set umbilicus http://purl.obolibrary.org/obo/HP_0032527 HP:0032529 biolink:PhenotypicFeature obsolete Elevated circulating gamma-aminobutyric acid concentration hp.json http://purl.obolibrary.org/obo/HP_0032529 HP:0032524 biolink:PhenotypicFeature Long thumb Length of the thumb is greater than normal. hp.json http://purl.obolibrary.org/obo/HP_0032524 HP:0007556 biolink:PhenotypicFeature Plantar hyperkeratosis Hyperkeratosis affecting the sole of the foot. UMLS:C1856954 hp.json Plantar hyperkeratoses http://purl.obolibrary.org/obo/HP_0007556 HP:0032523 biolink:PhenotypicFeature Tendon thickening An abnormal increase in the thickness (diameter) of a tendon. hp.json http://purl.obolibrary.org/obo/HP_0032523 HP:0007559 biolink:PhenotypicFeature Localized epidermolytic hyperkeratosis MSH:D053546|UMLS:C1721006 hp.json Localised epidermolytic hyperkeratosis http://purl.obolibrary.org/obo/HP_0007559 HP:0032526 biolink:PhenotypicFeature Ameliorated by acetylcholinesterase inhibitor Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon. hp.json http://purl.obolibrary.org/obo/HP_0032526 GO:0035898 biolink:NamedThing parathyroid hormone secretion hp.json http://purl.obolibrary.org/obo/GO_0035898 HP:0032525 biolink:PhenotypicFeature Aggravated by acetylcholinesterase inhibitor Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon). hp.json http://purl.obolibrary.org/obo/HP_0032525 HP:0007553 biolink:PhenotypicFeature Congenital symmetrical palmoplantar keratosis UMLS:C1855459 hp.json http://purl.obolibrary.org/obo/HP_0007553 HP:0007552 biolink:PhenotypicFeature Abnormal subcutaneous fat tissue distribution UMLS:C1859347 hp.json Abnormal fat tissue distribution below the skin http://purl.obolibrary.org/obo/HP_0007552 HP:0007554 biolink:PhenotypicFeature Confetti hypopigmentation pattern of lower leg skin UMLS:C4024847 hp.json Confetti hypopigmentation pattern of lower leg skin http://purl.obolibrary.org/obo/HP_0007554 HP:0007550 biolink:PhenotypicFeature Hypohidrosis or hyperhidrosis UMLS:C4021831 hp.json Lack of sweating or excessive sweating http://purl.obolibrary.org/obo/HP_0007550 HP:0032531 biolink:PhenotypicFeature Elevated CSF gamma-aminobutyric acid concentration hp.json http://purl.obolibrary.org/obo/HP_0032531 PATO:0001875 biolink:NamedThing triangular A shape quality inhering in a bearer by virtue of the bearer's having three angles. hp.json delta shaped|triangle|triangle-shaped|deltoid http://purl.obolibrary.org/obo/PATO_0001875 value_slim|cell_quality HP:0032530 biolink:PhenotypicFeature Decreased succinic semialdehyde dehydrogenase level Reduced level of succinic semialdehyde dehydrogenase (SSADH). hp.json http://purl.obolibrary.org/obo/HP_0032530 PATO:0001876 biolink:NamedThing dumbbell-shaped A concave 3-D shape quality inhering in a bearer by virtue of the bearer's having two parts, roughly spherical and of equal size, connected by a bar. hp.json http://purl.obolibrary.org/obo/PATO_0001876 value_slim|cell_quality PATO:0001873 biolink:NamedThing cylindrical A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. hp.json tubulate|rod-like|rod-shaped http://purl.obolibrary.org/obo/PATO_0001873 value_slim|cell_quality HP:0032533 biolink:PhenotypicFeature Elevated circulating acetone concentration An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies. hp.json http://purl.obolibrary.org/obo/HP_0032533 HP:0032532 biolink:PhenotypicFeature Elevated CSF 4-hydroxybutyric acid concentration Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF). hp.json Elevated CSF GHB levels|Elevated CSF gamma-hydroxybutyric acid http://purl.obolibrary.org/obo/HP_0032532 PATO:0001874 biolink:NamedThing discoid A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. hp.json disc-shaped|disk-shaped http://purl.obolibrary.org/obo/PATO_0001874 value_slim|cell_quality PATO:0001879 biolink:NamedThing U-shaped A concave 3-D shape quality inhering in a bearer by virtue of the bearer's being shaped in the form of the letter U. hp.json horseshoe|horseshoe shaped http://purl.obolibrary.org/obo/PATO_0001879 value_slim|cell_quality PATO:0001878 biolink:NamedThing sigmoid A shape quality inhering in a bearer by virtue of the bearer's consisting of two curves, in opposite directions. S-shaped. hp.json S-shaped|sigmoidal http://purl.obolibrary.org/obo/PATO_0001878 value_slim|cell_quality HP:0032539 biolink:PhenotypicFeature Joint extensor surface localization Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint. hp.json http://purl.obolibrary.org/obo/HP_0032539 HP:0032538 biolink:PhenotypicFeature Pretibial dimple A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. hp.json http://purl.obolibrary.org/obo/HP_0032538 GO:0008272 biolink:BiologicalProcess sulfate transport The directed movement of sulfate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json sulphate transport http://purl.obolibrary.org/obo/GO_0008272 GO:0035883 biolink:BiologicalProcess enteroendocrine cell differentiation The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of an enteroendocrine cell. Enteroendocrine cells are hormonally active epithelial cells in the gut that constitute the diffuse neuroendocrine system. hp.json http://purl.obolibrary.org/obo/GO_0035883 HP:0007529 biolink:PhenotypicFeature Hidrotic ectodermal dysplasia MSH:D004476|UMLS:C0162361|SNOMEDCT_US:54209007 hp.json http://purl.obolibrary.org/obo/HP_0007529 HP:0007524 biolink:PhenotypicFeature Atypical neurofibromatosis UMLS:C0220695|MSH:C537392 hp.json http://purl.obolibrary.org/obo/HP_0007524 HP:0032535 biolink:PhenotypicFeature Cervical (neck) Applies to an abnormality that is situated in the neck. hp.json http://purl.obolibrary.org/obo/HP_0032535 PATO:0001872 biolink:NamedThing cuboid A convex 3-D shape quality inhering in a bearer by virtue of the bearer's resemblance to a cube (a 3-D shape with a square cross section). hp.json cuboidal|block-like http://purl.obolibrary.org/obo/PATO_0001872 value_slim|cell_quality GO:0035886 biolink:BiologicalProcess vascular associated smooth muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a vascular smooth muscle cell. hp.json vascular smooth muscle cell differentiation|VSMC differentiation http://purl.obolibrary.org/obo/GO_0035886 HP:0032534 biolink:PhenotypicFeature Exacerbated by methylxanthine ingestion Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate). hp.json Methylxanthines produce worsening http://purl.obolibrary.org/obo/HP_0032534 GO:0035887 biolink:BiologicalProcess aortic smooth muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell surrounding the aorta. hp.json http://purl.obolibrary.org/obo/GO_0035887 HP:0007526 biolink:PhenotypicFeature Hypopigmented skin patches on arms UMLS:C4024852 hp.json Patchy loss of skin colour on arms|Hypopigmented upper extremeity skin patches|Patchy loss of skin color on arms http://purl.obolibrary.org/obo/HP_0007526 HP:0032537 biolink:PhenotypicFeature Delayed fracture healing A delay in healing of a fracture past the expected duration. hp.json http://purl.obolibrary.org/obo/HP_0032537 HP:0007525 biolink:PhenotypicFeature Yellow subcutaneous tissue covered by thin, scaly skin UMLS:C1850533 hp.json http://purl.obolibrary.org/obo/HP_0007525 HP:0032536 biolink:PhenotypicFeature Increased number of lymph nodes An abnormally elevated number of lymph nodes in an anatomical region. hp.json http://purl.obolibrary.org/obo/HP_0032536 HP:0007522 biolink:PhenotypicFeature Increased number of skin folds UMLS:C4024853 hp.json Increased number of skin folds http://purl.obolibrary.org/obo/HP_0007522 HP:0007521 biolink:PhenotypicFeature Irregular hyperpigmentation of back UMLS:C4024854 hp.json http://purl.obolibrary.org/obo/HP_0007521 OBO:MAXO_0000075 biolink:NamedThing digestive system testing The quantitative measurement of digestive system tests to diagnose or treat a digestive disorder using clinical laboratory procedures, imaging tests, endoscopic or other procedures. hp.json http://purl.obolibrary.org/obo/MAXO_0000075 OBO:MAXO_0000074 biolink:NamedThing pancreatic function testing A procedure to measure pancreatic secretion to discriminate between pancreatic and nonpancreatic causes of malabsorption. NCIT:C97101 hp.json pancreatic function assessment http://purl.obolibrary.org/obo/MAXO_0000074 GO:0033218 biolink:MolecularActivity amide binding Binding to an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. hp.json http://purl.obolibrary.org/obo/GO_0033218 goslim_pir GO:0035878 biolink:BiologicalProcess nail development The process whose specific outcome is the progression of a nail over time, from its formation to the mature structure. A nail is a horn-like envelope covering the outer end of a finger or toe, and consists of the nail plate, the nail matrix and the nail bed below it, and the grooves surrounding it. hp.json http://purl.obolibrary.org/obo/GO_0035878 HP:0032542 biolink:PhenotypicFeature Exacerbated by pregnancy Applied to a sign or symptom that is worsened by being pregnant. hp.json http://purl.obolibrary.org/obo/HP_0032542 HP:0032541 biolink:PhenotypicFeature Knuckle pad Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. hp.json Knuckle pads on dorsal aspect of finger joints http://purl.obolibrary.org/obo/HP_0032541 HP:0032544 biolink:PhenotypicFeature Predominant small joint localization Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck. hp.json http://purl.obolibrary.org/obo/HP_0032544 HP:0032543 biolink:PhenotypicFeature Lithoptysis Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen. hp.json http://purl.obolibrary.org/obo/HP_0032543 GO:0008277 biolink:BiologicalProcess regulation of G protein-coupled receptor signaling pathway Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway. hp.json regulation of G-protein coupled receptor protein signalling pathway|regulation of G-protein coupled receptor protein signaling pathway|regulation of G protein coupled receptor protein signalling pathway|regulation of GPCR protein signaling pathway|regulation of G-protein-coupled receptor protein signalling pathway|regulation of GPCR protein signalling pathway|regulation of G protein coupled receptor protein signaling pathway http://purl.obolibrary.org/obo/GO_0008277 OBO:MAXO_0000072 biolink:NamedThing ultrasonography procedure The use of ultrasound to produce images of structures in the human body. NCIT:C17230|ERO:0001325 hp.json diagnostic ultrasound|sonography|medical sonography|ultrasound procedure http://purl.obolibrary.org/obo/MAXO_0000072 HP:0032540 biolink:PhenotypicFeature Joint flexor surface localization Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed). hp.json http://purl.obolibrary.org/obo/HP_0032540 GO:0008284 biolink:BiologicalProcess positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation. hp.json activation of cell proliferation|up-regulation of cell proliferation|positive regulation of cell proliferation|upregulation of cell proliferation|stimulation of cell proliferation|up regulation of cell proliferation http://purl.obolibrary.org/obo/GO_0008284 NCBITaxon:1206794 biolink:OrganismalEntity Ecdysozoa GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_1206794 GO:0008283 biolink:BiologicalProcess cell population proliferation The multiplication or reproduction of cells, resulting in the expansion of a cell population. hp.json cell proliferation http://purl.obolibrary.org/obo/GO_0008283 goslim_chembl|goslim_mouse|goslim_agr|goslim_pir|goslim_flybase_ribbon|goslim_drosophila HP:0032549 biolink:PhenotypicFeature Persistent asymmetrical tonic neck reflex Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers. hp.json Tonic neck reflex asymmetrical and persistent|Persistent fencer's reflex http://purl.obolibrary.org/obo/HP_0032549 HP:0032546 biolink:PhenotypicFeature Abdominal guarding A voluntary contraction of the abdominal wall musculature to avoid pain. hp.json http://purl.obolibrary.org/obo/HP_0032546 HP:0007535 biolink:PhenotypicFeature Hypopigmented streaks UMLS:C1866244 hp.json http://purl.obolibrary.org/obo/HP_0007535 PATO:0001883 biolink:NamedThing clavate A concave 3-D shape quality inhering in a bearer by virtue of the bearer's gradually becoming thicker towards the end. hp.json club-like|clubbed|club-shaped http://purl.obolibrary.org/obo/PATO_0001883 value_slim HP:0032545 biolink:PhenotypicFeature Abdominal rigidity Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area. hp.json Rigid abdomen http://purl.obolibrary.org/obo/HP_0032545 HP:0007534 biolink:PhenotypicFeature Congenital posterior occipital alopecia Loss of hair in the occipital region of the scalp with congenital onset. UMLS:C4024850 hp.json http://purl.obolibrary.org/obo/HP_0007534 HP:0032548 biolink:PhenotypicFeature Increased placental thickness Abnormally elevated placental thickness. hp.json Placental thickness increased http://purl.obolibrary.org/obo/HP_0032548 HP:0007537 biolink:PhenotypicFeature Severe photosensitivity A severe degree of photosensitivity of the skin. UMLS:C1849186 hp.json Severe sun sensitivity http://purl.obolibrary.org/obo/HP_0007537 HP:0032547 biolink:PhenotypicFeature Low intraocular pressure An abnormal decrease of the pressure within the eye. hp.json Ocular hypotony http://purl.obolibrary.org/obo/HP_0032547 HP:0007536 biolink:PhenotypicFeature Aplasia cutis congenita of midline scalp vertex UMLS:C4024849 hp.json http://purl.obolibrary.org/obo/HP_0007536 HP:0007530 biolink:PhenotypicFeature Punctate palmoplantar hyperkeratosis UMLS:C4024851 hp.json http://purl.obolibrary.org/obo/HP_0007530 GO:0033212 biolink:BiologicalProcess iron import into cell The directed movement of iron ions from outside of a cell into the cytoplasmic compartment. This may occur via transport across the plasma membrane or via endocytosis. hp.json ferrous ion import|iron assimilation|ferrous iron import|ferrous iron uptake http://purl.obolibrary.org/obo/GO_0033212 PATO:0001818 biolink:NamedThing progressive A quality of a single process inhering in a bearer by virtue of the bearer's increasing over time. hp.json http://purl.obolibrary.org/obo/PATO_0001818 value_slim|mpath_slim|hpo_slim PATO:0001815 biolink:NamedThing fatigability A strength quality inhering in a bearer by virtue of the bearer's disposition to lose strength. hp.json http://purl.obolibrary.org/obo/PATO_0001815 scalar_slim|disposition_slim|attribute_slim PATO:0001816 biolink:NamedThing increased fatigability A fatigability which is relatively high. hp.json high fatigability http://purl.obolibrary.org/obo/PATO_0001816 disposition_slim|value_slim HP:0007590 biolink:PhenotypicFeature Aplasia cutis congenita over posterior parietal area UMLS:C1863495 hp.json http://purl.obolibrary.org/obo/HP_0007590 PATO:0001819 biolink:NamedThing atretic A morphological quality inhering in a bearer by virtue of the bearer's absence or closure of a normal body orifice or tubular passage. hp.json atresia http://purl.obolibrary.org/obo/PATO_0001819 value_slim|mpath_slim PATO:0001810 biolink:NamedThing wrinkled A grooved texture quality inhering in a bearer by virtue of the bearer's being marked by one or more creases in a normally smooth surface. hp.json http://purl.obolibrary.org/obo/PATO_0001810 value_slim|mpath_slim GO:0035869 biolink:CellularComponent ciliary transition zone A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. hp.json cilial transition zone|cilium transition zone|connecting cilium http://purl.obolibrary.org/obo/GO_0035869 HP:0007589 biolink:PhenotypicFeature Aplasia cutis congenita on trunk or limbs A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. UMLS:C1863496 hp.json http://purl.obolibrary.org/obo/HP_0007589 HP:0007586 biolink:PhenotypicFeature Telangiectases producing 'marbled' skin UMLS:C4024839 hp.json http://purl.obolibrary.org/obo/HP_0007586 HP:0007585 biolink:PhenotypicFeature Skin fragility with non-scarring blistering UMLS:C1851562 hp.json http://purl.obolibrary.org/obo/HP_0007585 HP:0007588 biolink:PhenotypicFeature Reticular hyperpigmentation Increased pigmentation of the skin with a netlike (reticular) pattern. UMLS:C1851972 hp.json Reticulate hyperpigmentation http://purl.obolibrary.org/obo/HP_0007588 HP:0007587 biolink:PhenotypicFeature Numerous pigmented freckles UMLS:C1968565 hp.json Numerous pigmented freckles http://purl.obolibrary.org/obo/HP_0007587 HP:0007581 biolink:PhenotypicFeature Mediosternal, longitudinal streak of hypopigmentation UMLS:C4024840 hp.json http://purl.obolibrary.org/obo/HP_0007581 HP:0007583 biolink:PhenotypicFeature Telangiectasia macularis eruptiva perstans UMLS:C0263402|SNOMEDCT_US:8214000 hp.json http://purl.obolibrary.org/obo/HP_0007583 PATO:0001828 biolink:NamedThing male pseudohermaphrodite A biological sex quality inhering in an individual or a population by virtue of having internal reproductive organs of male and external sexual characteristics of female. hp.json http://purl.obolibrary.org/obo/PATO_0001828 value_slim PATO:0001829 biolink:NamedThing female pseudohermaphrodite A biological sex quality inhering in an individual or a population by virtue of having internal reproductive organs of female and external sexual characteristics of male. hp.json http://purl.obolibrary.org/obo/PATO_0001829 value_slim PATO:0001827 biolink:NamedThing pseudohermaphrodite A biological sex quality inhering in an individual or a population by virtue of having internal reproductive organs of one sex and external sexual characteristics of the other sex. hp.json http://purl.obolibrary.org/obo/PATO_0001827 value_slim PATO:0001821 biolink:NamedThing imperforate A structural quality inhering in a bearer by virtue of the bearer's having no opening. hp.json unperforated http://purl.obolibrary.org/obo/PATO_0001821 mpath_slim|value_slim PATO:0001824 biolink:NamedThing dry A wetness quality inhering in a bearer by virtue of the bearer's not being covered by a liquid. hp.json http://purl.obolibrary.org/obo/PATO_0001824 value_slim|mpath_slim PATO:0001822 biolink:NamedThing wetness A quality inhering in a bearer by virtue of whether the bearer's being covered by a liquid. hp.json http://purl.obolibrary.org/obo/PATO_0001822 attribute_slim|mpath_slim|scalar_slim GO:0035855 biolink:BiologicalProcess megakaryocyte development The process whose specific outcome is the progression of a megakaryocyte cell over time, from its formation to the mature structure. Megakaryocyte development does not include the steps involved in committing a cell to a megakaryocyte fate. A megakaryocyte is a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow. hp.json megakaryocyte cell development http://purl.obolibrary.org/obo/GO_0035855 CHEBI:61409 biolink:ChemicalSubstance dihydroxyphenylacetic acid A dihydroxy monocarboxylic acid consisting of phenylacetic acid having two phenolic hydroxy substituents. hp.json dihydroxyphenylacetic acids http://purl.obolibrary.org/obo/CHEBI_61409 3_STAR HP:0007597 biolink:PhenotypicFeature obsolete Congenital palmoplantar keratodermia hp.json http://purl.obolibrary.org/obo/HP_0007597 OBO:MAXO_0000018 biolink:NamedThing biomarker analysis A broad subcategory of medical signs or objective indications of medical state which can be measured accurately and reproducibly. NCIT:C63333 hp.json http://purl.obolibrary.org/obo/MAXO_0000018 HP:0007596 biolink:PhenotypicFeature Painful subcutaneous lipomas The presence of multiple subcutaneous lipoma that cause pain. UMLS:C4024838 hp.json Painful noncancerous fat tissue tumor under the skin|Painful noncancerous fat tissue tumour under the skin http://purl.obolibrary.org/obo/HP_0007596 HP:0007599 biolink:PhenotypicFeature Generalized reticulate brown pigmentation UMLS:C4024836 hp.json Generalised reticulate brown pigmentation http://purl.obolibrary.org/obo/HP_0007599 HP:0007598 biolink:PhenotypicFeature Bilateral single transverse palmar creases The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. UMLS:C1862095 hp.json http://purl.obolibrary.org/obo/HP_0007598 HP:0007592 biolink:PhenotypicFeature Aplasia/Hypoplastia of the eccrine sweat glands Absence or developmental hypoplasia of the eccrine sweat glands. UMLS:C1844618 hp.json Hypoplastic-absent eccrine sweat glands http://purl.obolibrary.org/obo/HP_0007592 HP:0007595 biolink:PhenotypicFeature Redundant skin in infancy UMLS:C1835587 hp.json Excess skin in infancy http://purl.obolibrary.org/obo/HP_0007595 GO:0008227 biolink:MolecularActivity G protein-coupled amine receptor activity Combining with an extracellular amine and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. hp.json biogenic amine receptor|G-protein coupled amine receptor activity|amine receptor activity, G-protein coupled http://purl.obolibrary.org/obo/GO_0008227 GO:0035846 biolink:BiologicalProcess oviduct epithelium development The progression of the oviduct epithelium over time from its initial formation to the mature structure. An oviduct is a tube through which an ova passes from the ovary to the uterus, or from the ovary to the outside of the organism. The oviduct epithelium is the specialized epithelium that lines the oviduct. hp.json fallopian tube epithelium development http://purl.obolibrary.org/obo/GO_0035846 GO:0035847 biolink:BiologicalProcess uterine epithelium development The progression of an epithelium of the uterus over time from its initial formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. hp.json uterus epithelial development http://purl.obolibrary.org/obo/GO_0035847 GO:0035848 biolink:BiologicalProcess oviduct morphogenesis The process in which anatomical structures of the oviduct are generated and organized. An oviduct is a tube through which an ova passes from the ovary to the uterus, or from the ovary to the outside of the organism. hp.json fallopian tube morphogenesis http://purl.obolibrary.org/obo/GO_0035848 HP:0007569 biolink:PhenotypicFeature Generalized seborrheic dermatitis Seborrheic dermatitis that is not localized to any one particular region. UMLS:C4024844 hp.json Generalized seborrheic eczema|Generalised seborrheic dermatitis|Generalised seborrheic eczema http://purl.obolibrary.org/obo/HP_0007569 GO:0035844 biolink:BiologicalProcess cloaca development The process whose specific outcome is the progression of the cloaca over time, from it's formation to the mature structure. The cloaca is the common chamber into which intestinal, genital and urinary canals open in vertebrates. hp.json cloacal development http://purl.obolibrary.org/obo/GO_0035844 HP:0007566 biolink:PhenotypicFeature Index finger dermatoglyphic radial loop UMLS:C4024845 hp.json http://purl.obolibrary.org/obo/HP_0007566 HP:0007565 biolink:PhenotypicFeature Multiple cafe-au-lait spots The presence of six or more cafe-au-lait spots. UMLS:C1861975|MSH:C537421 hp.json Multiple birthmarks|Multiple flat light-brown marks on skin http://purl.obolibrary.org/obo/HP_0007565 HP:0007560 biolink:PhenotypicFeature Unusual dermatoglyphics UMLS:C4024846 hp.json http://purl.obolibrary.org/obo/HP_0007560 HP:0007561 biolink:PhenotypicFeature obsolete Telangiectases in sun-exposed and nonexposed skin hp.json http://purl.obolibrary.org/obo/HP_0007561 PATO:0001848 biolink:NamedThing asymmetrically curved A curvature quality inhering in a bearer by virtue of the bearer's being curved asymmetrically. hp.json http://purl.obolibrary.org/obo/PATO_0001848 cell_quality|value_slim GO:0035834 biolink:BiologicalProcess indole alkaloid metabolic process The chemical reactions and pathways involving an indole alkaloid, an alkaloid containing an indole skeleton. hp.json indole alkaloid metabolism http://purl.obolibrary.org/obo/GO_0035834 GO:0035835 biolink:BiologicalProcess indole alkaloid biosynthetic process The chemical reactions and pathways resulting in the formation of an indole alkaloid, an alkaloid containing an indole skeleton. hp.json indole alkaloid synthesis|indole alkaloid formation|indole alkaloid biosynthesis|indole alkaloid anabolism http://purl.obolibrary.org/obo/GO_0035835 HP:0032500 biolink:PhenotypicFeature Exacerbated by tobacco use Applied to a sign or symptom that is worsened by smoking tobacco products. hp.json Exacerbated by smoking|Aggravated by tobacco use|Smoking or tobacco use exacerbates symptoms http://purl.obolibrary.org/obo/HP_0032500 PATO:0001847 biolink:NamedThing constricted A structural quality inhering in a bearer by virtue of the bearer's being drawn together, compressed or squeezed physically. hp.json stricture|stenotic|stenosis http://purl.obolibrary.org/obo/PATO_0001847 value_slim PATO:0001845 biolink:NamedThing irregular rhythm A rhythm quality inhering in a bearer by virtue of the bearer's lacking rhythm lacking pattern. hp.json http://purl.obolibrary.org/obo/PATO_0001845 value_slim HP:0032506 biolink:PhenotypicFeature Alien limb phenomenon Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb. hp.json http://purl.obolibrary.org/obo/HP_0032506 HP:0032505 biolink:PhenotypicFeature Hydrophobia Pharyngeal spasms provoked by an attempt to drink. hp.json http://purl.obolibrary.org/obo/HP_0032505 CHEBI:36498 biolink:ChemicalSubstance galactosylceramide hp.json http://purl.obolibrary.org/obo/CHEBI_36498 HP:0032508 biolink:PhenotypicFeature Polyembolokoilamania Habitual insertion of foreign bodies into bodily orifices. hp.json http://purl.obolibrary.org/obo/HP_0032508 HP:0032507 biolink:PhenotypicFeature Labiomental fasciculations Fasciculations affecting the tongue muscle and the musculature of the chin. hp.json Fasciculations, labiomental http://purl.obolibrary.org/obo/HP_0032507 HP:0032502 biolink:PhenotypicFeature Exacerbated by barbiturate medication Applied to a sign or symptom that is worsened by taking barbituates. hp.json Barbiturates produce worsening http://purl.obolibrary.org/obo/HP_0032502 HP:0032501 biolink:PhenotypicFeature Exacerbated by contraceptive medication Applied to a sign or symptom that is worsened by taking contraceptive medication. hp.json Contraceptive pills aggravate symptoms http://purl.obolibrary.org/obo/HP_0032501 HP:0032504 biolink:PhenotypicFeature Lhermitte's sign An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk. hp.json Lhermitte's phenomenon|Barber chair phenomenon http://purl.obolibrary.org/obo/HP_0032504 HP:0032503 biolink:PhenotypicFeature Ameliorated by ethanol ingestion Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol). hp.json Ethanol reduces manifestations http://purl.obolibrary.org/obo/HP_0032503 HP:0007574 biolink:PhenotypicFeature Generalized bronze hyperpigmentation UMLS:C4024842|UMLS:C2939074 hp.json Bronze skin|Generalised bronze hyperpigmentation http://purl.obolibrary.org/obo/HP_0007574 HP:0007576 biolink:PhenotypicFeature Palmar neurofibromas UMLS:C4024841 hp.json http://purl.obolibrary.org/obo/HP_0007576 HP:0007570 biolink:PhenotypicFeature Hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa. SNOMEDCT_US:28488007|UMLS:C0263420|MSH:C538377 hp.json Flegel disease http://purl.obolibrary.org/obo/HP_0007570 HP:0032509 biolink:PhenotypicFeature Onychotillomania Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails. hp.json http://purl.obolibrary.org/obo/HP_0032509 HP:0007573 biolink:PhenotypicFeature Late onset atopic dermatitis A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. UMLS:C4024843|UMLS:C4280439 hp.json Late onset baby eczema http://purl.obolibrary.org/obo/HP_0007573 HP:0007572 biolink:PhenotypicFeature Hyperpigmented streaks UMLS:C1866245 hp.json http://purl.obolibrary.org/obo/HP_0007572 GO:0045196 biolink:BiologicalProcess establishment or maintenance of neuroblast polarity Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of a neuroblast cell, a progenitor of the central nervous system. hp.json establishment and/or maintenance of neuroblast cell polarity http://purl.obolibrary.org/obo/GO_0045196 GO:1901692 biolink:BiologicalProcess regulation of compound eye retinal cell apoptotic process Any process that modulates the frequency, rate or extent of compound eye retinal cell apoptotic process. hp.json http://purl.obolibrary.org/obo/GO_1901692 GO:1901699 biolink:BiologicalProcess cellular response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. hp.json cellular response to nitrogen molecular entity http://purl.obolibrary.org/obo/GO_1901699 GO:1901698 biolink:BiologicalProcess response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. hp.json response to nitrogen molecular entity http://purl.obolibrary.org/obo/GO_1901698 GO:1901693 biolink:BiologicalProcess negative regulation of compound eye retinal cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of compound eye retinal cell apoptotic process. hp.json down-regulation of compound eye retinal cell apoptotic process|down regulation of compound eye retinal cell apoptotic process|inhibition of compound eye retinal cell apoptotic process|downregulation of compound eye retinal cell apoptotic process http://purl.obolibrary.org/obo/GO_1901693 GO:1901694 biolink:BiologicalProcess positive regulation of compound eye retinal cell apoptotic process Any process that activates or increases the frequency, rate or extent of compound eye retinal cell apoptotic process. hp.json upregulation of compound eye retinal cell apoptotic process|induction of compound eye retinal cell programmed cell death|up-regulation of compound eye retinal cell apoptotic process|up regulation of compound eye retinal cell apoptotic process|activation of compound eye retinal cell apoptotic process http://purl.obolibrary.org/obo/GO_1901694 GO:0070174 biolink:BiologicalProcess negative regulation of enamel mineralization Any process that stops, prevents, or reduces the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel. hp.json http://purl.obolibrary.org/obo/GO_0070174 GO:0070175 biolink:BiologicalProcess positive regulation of enamel mineralization Any process that activates or increases the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel. hp.json http://purl.obolibrary.org/obo/GO_0070175 GO:0070172 biolink:BiologicalProcess positive regulation of tooth mineralization Any process that activates or increases the frequency, rate or extent of tooth mineralization, the deposition of calcium salts in tooth structures. hp.json http://purl.obolibrary.org/obo/GO_0070172 GO:0070173 biolink:BiologicalProcess regulation of enamel mineralization Any process that modulates the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel. hp.json http://purl.obolibrary.org/obo/GO_0070173 GO:0070170 biolink:BiologicalProcess regulation of tooth mineralization Any process that modulates the frequency, rate or extent of tooth mineralization, the deposition of calcium salts in tooth structures. hp.json http://purl.obolibrary.org/obo/GO_0070170 GO:0070171 biolink:BiologicalProcess negative regulation of tooth mineralization Any process that stops, prevents, or reduces the frequency, rate or extent of tooth mineralization, the deposition of calcium salts in tooth structures. hp.json http://purl.obolibrary.org/obo/GO_0070171 OBO:MAXO_0000124 biolink:NamedThing disease screening The use of any device, marker, or other means for the purpose of detecting the presence of disease, usually in asymptomatic individuals. NCIT:C15419 hp.json http://purl.obolibrary.org/obo/MAXO_0000124 OBO:MAXO_0000127 biolink:NamedThing genetic testing The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder. NCIT:C15709 hp.json genetic analysis http://purl.obolibrary.org/obo/MAXO_0000127 OBO:MAXO_0000125 biolink:NamedThing audiometric testing Testing conducted utilizing a manual or microprocessor audiometer to test for hearing loss. NCIT:C38036 hp.json hearing testing procedure|audiometry test|hearing exam procedure http://purl.obolibrary.org/obo/MAXO_0000125 OBO:MAXO_0000126 biolink:NamedThing cancer screening The use of any device, marker, or other means for the purpose of detecting the presence Neoplasm, usually in asymptomatic individuals. NCIT:C15406 hp.json Neoplasm screening http://purl.obolibrary.org/obo/MAXO_0000126 GO:0070161 biolink:CellularComponent anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. hp.json anchoring cell junction http://purl.obolibrary.org/obo/GO_0070161 PATO:0001802 biolink:NamedThing loose A pattern quality inhering in a bearer by virtue of the bearer's not being compact or dense in arrangement. hp.json http://purl.obolibrary.org/obo/PATO_0001802 value_slim PATO:0001800 biolink:NamedThing water composition A composition quality inhering in an bearer by virtue of the quantities or relative ratios of water of the inhering entity. hp.json http://purl.obolibrary.org/obo/PATO_0001800 scalar_slim|attribute_slim PATO:0001801 biolink:NamedThing decreased water composition A composition quality inhering in an bearer by virtue of the reduction in amount of water the bearer contains. hp.json dry|dehydrated http://purl.obolibrary.org/obo/PATO_0001801 value_slim GO:0070169 biolink:BiologicalProcess positive regulation of biomineral tissue development Any process that activates or increases the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds. hp.json http://purl.obolibrary.org/obo/GO_0070169 GO:0070167 biolink:BiologicalProcess regulation of biomineral tissue development Any process that modulates the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds. hp.json http://purl.obolibrary.org/obo/GO_0070167 GO:0070168 biolink:BiologicalProcess negative regulation of biomineral tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds. hp.json http://purl.obolibrary.org/obo/GO_0070168 GO:0070166 biolink:BiologicalProcess enamel mineralization The process in which calcium salts, mainly carbonated hydroxyapatite, are deposited in tooth enamel. hp.json enamel formation http://purl.obolibrary.org/obo/GO_0070166 GO:0070192 biolink:BiologicalProcess chromosome organization involved in meiotic cell cycle A process of chromosome organization that is involved in a meiotic cell cycle. hp.json chromosome organisation involved in meiosis|meiotic chromosome organization http://purl.obolibrary.org/obo/GO_0070192 HP:0007509 biolink:PhenotypicFeature Patchy hypo- and hyperpigmentation UMLS:C4021573 hp.json Patchy hypo- and hyper-pigmentation http://purl.obolibrary.org/obo/HP_0007509 HP:0007506 biolink:PhenotypicFeature Congenital absence of skin of limbs UMLS:C4024858 hp.json Missing skin on limbs since birth http://purl.obolibrary.org/obo/HP_0007506 GO:0033162 biolink:CellularComponent melanosome membrane The lipid bilayer surrounding a melanosome. hp.json http://purl.obolibrary.org/obo/GO_0033162 HP:0007505 biolink:PhenotypicFeature Progressive hyperpigmentation UMLS:C4024859 hp.json http://purl.obolibrary.org/obo/HP_0007505 HP:0007508 biolink:PhenotypicFeature Punctate palmar hyperkeratosis Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands. UMLS:C4024857 hp.json http://purl.obolibrary.org/obo/HP_0007508 HP:0007502 biolink:PhenotypicFeature Follicular hyperkeratosis A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. SNOMEDCT_US:402341008|SNOMEDCT_US:238629004|UMLS:C0334013|SNOMEDCT_US:81845009 hp.json Hyperkeratosis follicularis http://purl.obolibrary.org/obo/HP_0007502 hposlim_core HP:0007501 biolink:PhenotypicFeature Streaks of hyperkeratosis along each finger onto the palm UMLS:C4024861 hp.json http://purl.obolibrary.org/obo/HP_0007501 HP:0007504 biolink:PhenotypicFeature Diffuse slow skin atrophy UMLS:C4024860 hp.json http://purl.obolibrary.org/obo/HP_0007504 HP:0007503 biolink:PhenotypicFeature Generalized ichthyosis UMLS:C3552528 hp.json Generalised ichthyosis http://purl.obolibrary.org/obo/HP_0007503 HP:0007500 biolink:PhenotypicFeature Decreased number of sweat glands The presence of fewer than normal sweat glands. UMLS:C4021574 hp.json Decreased sweat glands|Decreased sweat pores http://purl.obolibrary.org/obo/HP_0007500 NCBITaxon:33213 biolink:OrganismalEntity Bilateria GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_33213 GO:0070199 biolink:BiologicalProcess establishment of protein localization to chromosome The directed movement of a protein to a specific location on a chromosome. hp.json establishment of protein localisation to chromosome http://purl.obolibrary.org/obo/GO_0070199 HP:0007517 biolink:PhenotypicFeature Palmoplantar cutis laxa Loose, wrinkled skin of hands and feet. UMLS:C1856714 hp.json Wrinkled skin of hands and feet|Wrinkled palms and soles|Furrowed palms and soles|Increased wrinkles of palms and soles|Excessive wrinkled skin of palms and soles http://purl.obolibrary.org/obo/HP_0007517 HP:0007516 biolink:PhenotypicFeature Redundant skin on fingers Loose and sagging skin of the fingers. UMLS:C4024856 hp.json Extra skin on fingers http://purl.obolibrary.org/obo/HP_0007516 HP:0007519 biolink:PhenotypicFeature obsolete Lack of subcutaneous fatty tissue hp.json http://purl.obolibrary.org/obo/HP_0007519 HP:0007513 biolink:PhenotypicFeature Generalized hypopigmentation UMLS:C1849923 hp.json Generalised hypopigmentation|Pale pigmentation|Fair skin http://purl.obolibrary.org/obo/HP_0007513 hposlim_core HP:0007515 biolink:PhenotypicFeature Hypoplastic pilosebaceous units UMLS:C1832454 hp.json http://purl.obolibrary.org/obo/HP_0007515 NCBITaxon:33208 biolink:OrganismalEntity Metazoa GC_ID:1 hp.json metazoans|animals|multicellular animals|Animalia|metazoan- http://purl.obolibrary.org/obo/NCBITaxon_33208 HP:0007514 biolink:PhenotypicFeature Edema of the dorsum of hands An abnormal accumulation of fluid beneath the skin on the back of the hands. UMLS:C2751873|SNOMEDCT_US:443710002|UMLS:C2732374|MEDDRA:10058204 hp.json Oedema of the dorsum of hands|Edema of dorsum of hands|Oedema of dorsum of hands http://purl.obolibrary.org/obo/HP_0007514 HP:0007511 biolink:PhenotypicFeature Mottled pigmentation of photoexposed areas UMLS:C3151964 hp.json http://purl.obolibrary.org/obo/HP_0007511 HP:0007510 biolink:PhenotypicFeature Focal dermal aplasia/hypoplasia UMLS:C1834069 hp.json http://purl.obolibrary.org/obo/HP_0007510 GO:0033157 biolink:BiologicalProcess regulation of intracellular protein transport Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells. hp.json http://purl.obolibrary.org/obo/GO_0033157 GO:0008188 biolink:MolecularActivity neuropeptide receptor activity Combining with a neuropeptide to initiate a change in cell activity. hp.json http://purl.obolibrary.org/obo/GO_0008188 CARO:0030000 biolink:NamedThing biological entity hp.json http://purl.obolibrary.org/obo/CARO_0030000 GO:1901608 biolink:BiologicalProcess regulation of vesicle transport along microtubule Any process that modulates the frequency, rate or extent of vesicle transport along microtubule. hp.json regulation of microtubule-based vesicle localization http://purl.obolibrary.org/obo/GO_1901608 GO:1901609 biolink:BiologicalProcess negative regulation of vesicle transport along microtubule Any process that stops, prevents or reduces the frequency, rate or extent of vesicle transport along microtubule. hp.json down regulation of vesicle transport along microtubule|down regulation of microtubule-based vesicle localization|inhibition of vesicle transport along microtubule|down-regulation of microtubule-based vesicle localization|negative regulation of microtubule-based vesicle localization|downregulation of vesicle transport along microtubule|inhibition of microtubule-based vesicle localization|down-regulation of vesicle transport along microtubule|downregulation of microtubule-based vesicle localization http://purl.obolibrary.org/obo/GO_1901609 CHEBI:24400 biolink:ChemicalSubstance glycoside A glycosyl compound resulting from the attachment of a glycosyl group to a non-acyl group RO-, RS-, RSe-, etc. The bond between the glycosyl group and the non-acyl group is called a glycosidic bond. By extension, the terms N-glycosides and C-glycosides are used as class names for glycosylamines and for compounds having a glycosyl group attached to a hydrocarbyl group respectively. These terms are misnomers and should not be used. The preferred terms are glycosylamines and C-glycosyl compounds, respectively. hp.json glycosides|glycosides|O-glycosides|O-glycoside http://purl.obolibrary.org/obo/CHEBI_24400 3_STAR GO:1901607 biolink:BiologicalProcess alpha-amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of an alpha-amino acid. hp.json alpha-amino acid anabolism|alpha-amino acid synthesis|alpha-amino acid formation|alpha-amino acid biosynthesis http://purl.obolibrary.org/obo/GO_1901607 GO:1901605 biolink:BiologicalProcess alpha-amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. hp.json alpha-amino acid metabolism http://purl.obolibrary.org/obo/GO_1901605 CHEBI:24403 biolink:ChemicalSubstance glycosyl group An organic group obtained by removing the hydroxy group from the hemiacetal function of a monosaccharide or monosaccharide derivative and, by extension, of a lower oligosaccharide or oligosaccharide derivative. hp.json glycosyl groups|glycosyl group|groupe glycosyle http://purl.obolibrary.org/obo/CHEBI_24403 3_STAR CHEBI:24402 biolink:ChemicalSubstance glycosphingolipid A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. PMID:19303901|PMID:18845618|PMID:27325407|Wikipedia:Glycosphingolipid|PMID:26976737|PMID:26954668|PMID:27253729 hp.json glycosphingolipids http://purl.obolibrary.org/obo/CHEBI_24402 3_STAR GO:0045111 biolink:NamedThing intermediate filament cytoskeleton hp.json http://purl.obolibrary.org/obo/GO_0045111 UBERON:0001271 biolink:AnatomicalEntity pelvic girdle region The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pelvic girdle regions. FMA:16581|VSAO:0000304|EMAPA:37862|SCTID:360010001|UMLS:C0684083|NCIT:C33291 hp.json girdle - pelvic|pelvic girdle http://purl.obolibrary.org/obo/UBERON_0001271 vertebrate_core|uberon_slim UBERON:0001270 biolink:AnatomicalEntity bony pelvis A ring of bone formed by the sacrum and the first few coccygeal vertebrae as the roof, the pubis and ischia as the floor and the ilia and the acetabular part of the ischia as the walls. FMA:16580 hp.json pelvis ossea|skeletal system of pelvis http://purl.obolibrary.org/obo/UBERON_0001270 UBERON:0001273 biolink:AnatomicalEntity ilium Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad]. MA:0001336|galen:Ilium|OpenCyc:Mx4rvhwFJ5wpEbGdrcN5Y29ycA|CALOHA:TS-2200|NCIT:C32765|MESH:D007085|UMLS:C0020889|AAO:0000772|EFO:0003049|EMAPA:18726|GAID:207|FMA:16589 hp.json os ilii|iliac bone|os ilium|ilium bone|os iliacum|illium http://purl.obolibrary.org/obo/UBERON_0001273 pheno_slim|efo_slim|uberon_slim UBERON:0001272 biolink:AnatomicalEntity innominate bone A fused bone consisting of the ilium, ischium and pubis. Together with the sacrum and coccyx, it comprises the pelvis. [WP,modified]. FMA:16585|GAID:205 hp.json pelvic bone|os coxae|innominate|hip bone|basipterygium|os coxa|os innominatum|innominate bone|coxal bone|bone of pelvic girdle http://purl.obolibrary.org/obo/UBERON_0001272 uberon_slim UBERON:0001279 biolink:AnatomicalEntity portal triad A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. FMA:17523|MA:0002499|UMLS:C0227514|NCIT:C33342 hp.json trias hepatica|trias hepatica http://purl.obolibrary.org/obo/UBERON_0001279 uberon_slim|pheno_slim|human_reference_atlas UBERON:0001278 biolink:AnatomicalEntity epithelium of large intestine An epithelium that is part of a large intestine [Automatically generated definition]. MA:0001545|FMA:17301|CALOHA:TS-2105|EMAPA:35466 hp.json epithelial tissue of large intestine|large intestine epithelial tissue|large intestinal epithelium|large intestine epithelium http://purl.obolibrary.org/obo/UBERON_0001278 GO:0060759 biolink:BiologicalProcess regulation of response to cytokine stimulus Any process that modulates the rate, frequency, or extent of a response to cytokine stimulus. hp.json http://purl.obolibrary.org/obo/GO_0060759 PR:P06332 biolink:Protein T-cell surface glycoprotein CD4 (mouse) A CD4 molecule that is encoded in the genome of mouse. UniProtKB:P06332 hp.json Cd4|CD4 (mouse)|mCD4|T-cell surface antigen T4/Leu-3 (mouse)|T-cell differentiation antigen L3T4 (mouse) http://purl.obolibrary.org/obo/PR_P06332 UBERON:0001275 biolink:AnatomicalEntity pubis A paired endochondral bone making up the anteroventral region of the tripartite pelvic girdle forming part of the ventral edge of the acetabulum. The origin site of many proximal hindlimb muscles. [PHENOSCAPE:ad]. NCIT:C33423|FMA:16595|UMLS:C0034014|MESH:D011630|AAO:0000861|galen:Pubis|EMAPA:18728|MA:0001338 hp.json os pubis|pubis bone|pubic bone http://purl.obolibrary.org/obo/UBERON_0001275 pheno_slim|uberon_slim UBERON:0001274 biolink:AnatomicalEntity ischium Endochondral bone that is paired, forming the posterior part of the pelvis, articulating with the pubis and ilium. NCIT:C32884|UMLS:C0022122|FMA:16592|AAO:0000860|MESH:D007512|GAID:208|EMAPA:18727|galen:Ischium|VSAO:0005006|OpenCyc:Mx4rvlzMKpwpEbGdrcN5Y29ycA|MA:0001337 hp.json os ischii|os ischii|ischial bone|ischium bone http://purl.obolibrary.org/obo/UBERON_0001274 pheno_slim|uberon_slim UBERON:0001277 biolink:AnatomicalEntity intestinal epithelium Epithelial layer that lines the intestine. MA:0001536|NCIT:C49240|Wikipedia:Intestinal_epithelium|ZFA:0005124|SCTID:266135004|UMLS:C0226890|TAO:0005124|EMAPA:32873|FMA:17229|BTO:0000781 hp.json epithelium of bowel|epithelial tissue of bowel|villous epithelium|bowel epithelial tissue|intestine epithelium|epithelium of intestine|bowel epithelium|epithelial tissue of intestine|intestine epithelial tissue http://purl.obolibrary.org/obo/UBERON_0001277 uberon_slim|vertebrate_core|pheno_slim UBERON:0001276 biolink:AnatomicalEntity epithelium of stomach The epithelial layer of the stomach . MA:0001610|CALOHA:TS-2068|EMAPA:17023|BTO:0000500|EHDAA2:0001918|VHOG:0001433|SCTID:64977002|FMA:17091 hp.json stomach epithelial tissue|stomach epithelium|ventriculus epithelium|epithelium of ventriculus|gastric epithelium|epithelial tissue of ventriculus|ventriculus epithelial tissue|epithelial tissue of stomach http://purl.obolibrary.org/obo/UBERON_0001276 pheno_slim UBERON:0013240 biolink:AnatomicalEntity future glans clitoris A future glans that is part of a female genital tubercle. EMAPA:19170 hp.json glans of female genital tubercle http://purl.obolibrary.org/obo/UBERON_0013240 GO:1901617 biolink:BiologicalProcess organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. hp.json organic hydroxy compound anabolism|organic hydroxy compound synthesis|organic hydroxy compound formation|organic hydroxy compound biosynthesis http://purl.obolibrary.org/obo/GO_1901617 UBERON:0013241 biolink:AnatomicalEntity embryonic urethral groove The precursor of the urethra. hp.json urethral groove|sulcus urethralis primarius|urethral sulcus http://purl.obolibrary.org/obo/UBERON_0013241 GO:1901615 biolink:BiologicalProcess organic hydroxy compound metabolic process The chemical reactions and pathways involving organic hydroxy compound. hp.json organic hydroxy compound metabolism http://purl.obolibrary.org/obo/GO_1901615 UBERON:0013247 biolink:AnatomicalEntity male paramesonephric duct An epithelial tube that develops from a Mullerian duct in a male. Later degenerates. EHDAA2:0001052|EMAPA:35661|EMAPA:29161 hp.json degenerating mesonephric portion of male paramesonephric duct http://purl.obolibrary.org/obo/UBERON_0013247 GO:1901610 biolink:BiologicalProcess positive regulation of vesicle transport along microtubule Any process that activates or increases the frequency, rate or extent of vesicle transport along microtubule. hp.json up regulation of vesicle transport along microtubule|activation of vesicle transport along microtubule|positive regulation of microtubule-based vesicle localization|up regulation of microtubule-based vesicle localization|upregulation of vesicle transport along microtubule|up-regulation of microtubule-based vesicle localization|activation of microtubule-based vesicle localization|upregulation of microtubule-based vesicle localization|up-regulation of vesicle transport along microtubule http://purl.obolibrary.org/obo/GO_1901610 GO:0045124 biolink:BiologicalProcess regulation of bone resorption Any process that modulates the frequency, rate or extent of bone tissue loss (resorption). hp.json http://purl.obolibrary.org/obo/GO_0045124 UBERON:0037237 biolink:AnatomicalEntity wall of lacrimal duct FMA:85375 hp.json lacrimal ductal wall http://purl.obolibrary.org/obo/UBERON_0037237 UBERON:0001260 biolink:AnatomicalEntity serosa of urinary bladder A serous membrane that is part of a urinary bladder [Automatically generated definition]. MA:0001696|EMAPA:28661|FMA:15932 hp.json urinary bladder serous membrane|tunica serosa (vesica urinaria)|serous coat of urinary bladder|serosa of bladder|serous membrane of urinary bladder|bladder serous membrane|bladder serosa|tunica serosa vesicae|serous coat of bladder|visceral peritoneum of urinary bladder|serous membrane of bladder|urinary bladder serosa http://purl.obolibrary.org/obo/UBERON_0001260 UBERON:0001262 biolink:AnatomicalEntity wall of intestine An anatomical wall that is part of a intestine [Automatically generated definition]. UMLS:C1708548|BTO:0000647|FMA:15949|MA:0002693|NCIT:C49478|EMAPA:35444|MA:0001525 hp.json anatomical wall of bowel|intestine anatomical wall|intestine wall|wall of bowel|anatomical wall of intestine|bowel wall|bowel anatomical wall|bowel wall|intestinal wall http://purl.obolibrary.org/obo/UBERON_0001262 UBERON:0001261 biolink:AnatomicalEntity lamina propria of urinary bladder A lamina propria that is part of a urinary bladder [Automatically generated definition]. UMLS:C1706967|MA:0001695|NCIT:C48940|FMA:15935|EMAPA:30088 hp.json urinary bladder lamina propria|lamina propria of bladder|lamina propria mucosae of bladder|bladder lamina propria mucosa|bladder lamina propria mucosae|lamina propria mucosa of urinary bladder|bladder lamina propria|lamina propria mucosa of bladder|urinary bladder lamina propria mucosae|lamina propria mucosae of urinary bladder|urinary bladder lamina propria mucosa http://purl.obolibrary.org/obo/UBERON_0001261 human_reference_atlas UBERON:0013239 biolink:AnatomicalEntity future glans penis A future glans that is part of a male genital tubercle. EMAPA:29252 hp.json glans of male genital tubercle http://purl.obolibrary.org/obo/UBERON_0013239 UBERON:0001268 biolink:AnatomicalEntity peritoneal fluid Transudate contained in the peritoneal cavity. BTO:0001031|EMAPA:35683|MA:0002531|ncithesaurus:Peritoneal_Fluid|Wikipedia:Peritoneal_fluid|FMA:16515 hp.json http://purl.obolibrary.org/obo/UBERON_0001268 uberon_slim|pheno_slim UBERON:0001267 biolink:AnatomicalEntity femoral nerve The femoral nerve, the largest branch of the lumbar plexus, arises from the ventral divisions of the second, third, and fourth lumbar nerves. It descends through the fibers of the Psoas major, emerging from the muscle at the lower part of its lateral border, and passes down between it and the Iliacus, behind the iliac fascia; it then runs beneath the inguinal ligament, into the thigh, and splits into an anterior and a posterior division. Under the inguinal ligament, it is separated from the femoral artery by a portion of the Psoas major. [WP,unvetted]. EHDAA2:0000507|VHOG:0001411|UMLS:C0015808|EMAPA:35343|GAID:850|FMA:16486|MA:0001167|EHDAA:5655|NCIT:C52816|OpenCyc:Mx4rwGC03JwpEbGdrcN5Y29ycA|MESH:D005267 hp.json nervus femoralis|anterior crural nerve http://purl.obolibrary.org/obo/UBERON_0001267 uberon_slim UBERON:0001269 biolink:AnatomicalEntity acetabular part of hip bone The acetabulum is a concave surface of the pelvis. The head of the femur meets with the pelvis at the acetabulum, forming the hip joint. There are three bones of the os coxae (hip bone) that come together to form the acetabulum. Contributing a little more than two-fifths of the structure is the ischium, which provides lower and side boundaries to the acetabulum. The ilium forms the upper boundary, providing a little less than two-fifths of the structure of the acetabulum. The rest is formed by the pubis, near the midline. It is bounded by a prominent uneven rim, which is thick and strong above, and serves for the attachment of the acetabular labrum, which reduces its opening, and deepens the surface for formation of the hip joint. At the lower part of the acetabulum is the acetabular notch, which is continuous with a circular depression, the acetabular fossa, at the bottom of the cavity of the acetabulum. The rest of the acetabulum is formed by a curved, crescent-moon shaped surface, the lunate surface, where the joint is made with the head of the femur. Its counterpart in the pectoral girdle is the glenoid fossa.[WP,unvetted]. GAID:206|FMA:16579|EMAPA:18346|MA:0001335|OpenCyc:Mx4rwJlP9ZwpEbGdrcN5Y29ycA|UMLS:C0000962|EHDAA:10661|MESH:D000077|NCIT:C32042|VHOG:0000974|RETIRED_EHDAA2:0001427|AAO:0000770 hp.json acetabulum|acetabular region http://purl.obolibrary.org/obo/UBERON_0001269 uberon_slim|pheno_slim UBERON:0001264 biolink:AnatomicalEntity pancreas An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. MIAA:0000075|XAO:0000136|EV:0100092|GAID:334|BTO:0000988|EFO:0000855|UMLS:C0030274|MESH:D010179|VHOG:0000050|EHDAA2:0001367|galen:Pancreas|FMA:7198|MA:0000120|AAO:0010112|ZFA:0000140|CALOHA:TS-0736|OpenCyc:Mx4rvVimZZwpEbGdrcN5Y29ycA|EHDAA:6893|TAO:0000140|MAT:0000075|NCIT:C12393|EMAPA:17503 hp.json http://purl.obolibrary.org/obo/UBERON_0001264 uberon_slim|vertebrate_core|major_organ|organ_slim|pheno_slim|human_reference_atlas|efo_slim UBERON:0001263 biolink:AnatomicalEntity pancreatic acinus The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. EMAPA:35651|UMLS:C0227578|FMA:16011|NCIT:C49268|MA:0002417 hp.json pancreatic acinar|pancreas acinus|pancreatic acini|acinus pancreaticus http://purl.obolibrary.org/obo/UBERON_0001263 pheno_slim|human_reference_atlas UBERON:0001265 biolink:AnatomicalEntity trabecula of spleen A trabecula that is part of a spleen. FMA:16027|EMAPA:35808|UMLS:C0229688|MA:0000758|NCIT:C33607 hp.json splenic trabecula|spleen trabeculum|trabeculae of spleen http://purl.obolibrary.org/obo/UBERON_0001265 human_reference_atlas UBERON:0001249 biolink:AnatomicalEntity spleen lymphoid follicle The area of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur. UMLS:C1519475|NCIT:C33602|EMAPA:35804|MA:0002672 hp.json splenic B cell follicle|splenic lymphatic follicle|spleen B cell follicle|spleen lymphoid follicle|lymphoid follicle of spleen|lymphoid nodule of spleen|lymphatic follicle of spleen|Malpighian body|splenic lymphoid follicle|spleen lymphoid nodule http://purl.obolibrary.org/obo/UBERON_0001249 pheno_slim GO:1901624 biolink:BiologicalProcess negative regulation of lymphocyte chemotaxis Any process that stops, prevents or reduces the frequency, rate or extent of lymphocyte chemotaxis. hp.json down-regulation of lymphocyte chemotaxis|down regulation of lymphocyte chemotaxis|inhibition of lymphocyte chemotaxis|downregulation of lymphocyte chemotaxis http://purl.obolibrary.org/obo/GO_1901624 UBERON:0013235 biolink:AnatomicalEntity ventrum A major organism subdivisionthat is the entire part of an anatomical structure ventral to a horizontal plane and bounded on one side by the same horizontal plane. FMA:259204 hp.json ventral region of organism|ventral part of organism|ventral region|front of body proper|front http://purl.obolibrary.org/obo/UBERON_0013235 GO:1901623 biolink:BiologicalProcess regulation of lymphocyte chemotaxis Any process that modulates the frequency, rate or extent of lymphocyte chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_1901623 GO:0045136 biolink:BiologicalProcess development of secondary sexual characteristics The process whose specific outcome is the progression of the secondary sexual characteristics over time, from their formation to the mature structures. In humans, these include growth of axillary, chest, and pubic hair, voice changes, testicular/penile enlargement, breast development and menstrual periods. Development occurs in response to sex hormone secretion. hp.json http://purl.obolibrary.org/obo/GO_0045136 UBERON:0013238 biolink:AnatomicalEntity future glans hp.json http://purl.obolibrary.org/obo/UBERON_0013238 GO:0045137 biolink:BiologicalProcess development of primary sexual characteristics The process whose specific outcome is the progression of the primary sexual characteristics over time, from their formation to the mature structures. The primary sexual characteristics are the testes in males and the ovaries in females and they develop in response to sex hormone secretion. hp.json http://purl.obolibrary.org/obo/GO_0045137 UBERON:0013231 biolink:AnatomicalEntity sebaceous gland of eyelid Any of the sebaceous glands that are in the eyelid. Examples: gland of Zeis (services eyelashes), gland of Meibom (tarsal gland - unconnected to eyelids). hp.json http://purl.obolibrary.org/obo/UBERON_0013231 UBERON:0013232 biolink:AnatomicalEntity serous acinus The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. FMA:86279 hp.json acinus of serous gland http://purl.obolibrary.org/obo/UBERON_0013232 GO:0045132 biolink:BiologicalProcess meiotic chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle. hp.json http://purl.obolibrary.org/obo/GO_0045132 UBERON:0013228 biolink:AnatomicalEntity sweat gland of eyelid Glands of Moll, also known as ciliary glands, are modified apocrine sweat glands that are found on the margin of the eyelid. They are next to the base of the eyelashes, and anterior to the Meibomian glands within the distal eyelid margin. These glands are relatively large and tubular-shaped. The glands of Moll are named after Dutch oculist Jacob Anton Moll (1832-1914). Glands of Moll empty into the adjacent lashes. Glands of Moll and Zeis secrete lipid that adds to the superficial layer of the tear film, retarding evaporation. The glands of Moll are prone to infection and blockage of its duct with sebum and cell debris. Blockage of the gland's duct causes swelling which can manifest itself as a stye. FMA:59159|NCIT:C32679 hp.json ciliary gland|ciliary gland of moll|Moll's gland|gland of Moll|ciliary sweat gland of eyelid http://purl.obolibrary.org/obo/UBERON_0013228 UBERON:0013229 biolink:AnatomicalEntity eyelid gland Any gland that is part of an eyelid. This includes sebaceous glands (Zeis gland, tarsal gland) and sweat glands (Moll's gland). hp.json gland of eyelid http://purl.obolibrary.org/obo/UBERON_0013229 UBERON:0025261 biolink:AnatomicalEntity thalamic fiber tract BIRNLEX:749 hp.json thalamic fiber tracts|thalamic fiber tracts http://purl.obolibrary.org/obo/UBERON_0025261 UBERON:0001256 biolink:AnatomicalEntity wall of urinary bladder An anatomical wall that lines the insider of a urinary bladder. BTO:0001462|EMAPA:35175|UMLS:C0458421|NCIT:C48941|FMA:15902|MA:0002493 hp.json anatomical wall of bladder|urinary bladder anatomical wall|wall of bladder|urinary bladder wall|bladder anatomical wall|anatomical wall of urinary bladder|bladder wall http://purl.obolibrary.org/obo/UBERON_0001256 pheno_slim|human_reference_atlas UBERON:0001259 biolink:AnatomicalEntity mucosa of urinary bladder The mucous membrane lining the urinary bladder. EMAPA:35897|EFO:0000293|NCIT:C32205|UMLS:C0227691|FMA:15928|galen:MucousMembraneOfUrinaryBladder|MA:0001692 hp.json tunica mucosa vesicae|bladder mucous membrane|mucous membrane of urinary bladder|bladder organ mucosa|bladder mucosa|tunica mucosa (vesica urinaria)|tunica mucosa vesicae urinariae|urinary bladder mucous membrane|mucosa of bladder|mucous membrane of bladder|urinary bladder mucosa http://purl.obolibrary.org/obo/UBERON_0001259 efo_slim|human_reference_atlas|pheno_slim UBERON:0001258 biolink:AnatomicalEntity neck of urinary bladder The constricted portion of the urinary bladder, formed by the meeting of its inferolateral surfaces proximal to the opening of the urethra[MP]. MA:0002491|UMLS:C0227716|EMAPA:36078|NCIT:C12336|galen:UrinaryBladderNeck|FMA:15912 hp.json vesical neck|urinary bladder neck|neck of bladder|bladder neck|cervix vesicae|cervix vesicae urinariae|collum vesicae http://purl.obolibrary.org/obo/UBERON_0001258 uberon_slim|pheno_slim UBERON:0001253 biolink:AnatomicalEntity lamina propria of ureter A lamina propria that is part of a ureter [Automatically generated definition]. FMA:15896|EMAPA:28841|MA:0002653 hp.json ureter lamina propria|ureter lamina propria mucosa|lamina propria mucosae of ureter|lamina propria mucosa of ureter|ureter lamina propria mucosae http://purl.obolibrary.org/obo/UBERON_0001253 human_reference_atlas UBERON:0001252 biolink:AnatomicalEntity adventitia of ureter An adventitia that is part of a ureter. EMAPA:28114|FMA:15892|MA:0002652 hp.json external adventitia of ureter|tunica adventitia (ureter)|ureter adventitia|tunica adventitia ureteris|ureteral adventitia http://purl.obolibrary.org/obo/UBERON_0001252 UBERON:0001255 biolink:AnatomicalEntity urinary bladder Distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. CALOHA:TS-1090|UMLS:C0005682|MIAA:0000122|VHOG:0000740|OpenCyc:Mx4rvVjMmZwpEbGdrcN5Y29ycA|GAID:0000004|NCIT:C12414|galen:UrinaryBladder|BTO:0001418|EFO:0000290|XAO:0000154|AAO:0000623|MESH:D001743|EMAPA:18321|EHDAA:9328|MAT:0000122|FMA:15900|EHDAA2:0000174|MA:0000380|EV:0100098 hp.json vesica|urocyst|vesica urinaria|bladder http://purl.obolibrary.org/obo/UBERON_0001255 uberon_slim|major_organ|organ_slim|pheno_slim|human_reference_atlas|efo_slim CHEBI:73398 biolink:ChemicalSubstance indole skeleton A mancude heterobicyclic organic group consisting of a benzene ring fused to a pyrrole ring. hp.json http://purl.obolibrary.org/obo/CHEBI_73398 3_STAR UBERON:0001238 biolink:AnatomicalEntity lamina propria of small intestine Lamina propria that is part_of the small intestine. EMAPA:35779|NCIT:C49297|UMLS:C1711325|FMA:15651|MA:0001554 hp.json lamina propria mucosa of small bowel|lamina propria mucosae of small intestine|small intestine lamina propria mucosa|small bowel lamina propria mucosae|lamina propria of small bowel|small bowel lamina propria|lamina propria mucosae of small bowel|lamina propria mucosa of small intestine|lamina propria of mucosa of small intestine|small bowel lamina propria mucosa|small intestine lamina propria mucosae|small intestine lamina propria http://purl.obolibrary.org/obo/UBERON_0001238 GO:0060760 biolink:BiologicalProcess positive regulation of response to cytokine stimulus Any process that increases the rate, frequency, or extent of a response to cytokine stimulus. hp.json http://purl.obolibrary.org/obo/GO_0060760 GO:0060761 biolink:BiologicalProcess negative regulation of response to cytokine stimulus Any process that decreases the rate, frequency, or extent of a response to cytokine stimulus. hp.json http://purl.obolibrary.org/obo/GO_0060761 GO:0060764 biolink:BiologicalProcess cell-cell signaling involved in mammary gland development Any process that mediates the transfer of information from one cell to another and contributes to the progression of the mammary gland, from its initial state to the mature structure. hp.json cell-cell signalling involved in mammary gland development http://purl.obolibrary.org/obo/GO_0060764 UBERON:0001246 biolink:AnatomicalEntity interlobular bile duct The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. NCIT:C32827|FMA:15767|MA:0002668|UMLS:C0227515 hp.json interlobular ductule http://purl.obolibrary.org/obo/UBERON_0001246 pheno_slim UBERON:0001245 biolink:AnatomicalEntity anus Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts. UMLS:C0003461|FMA:15711|TADS:0000066|CALOHA:TS-2005|BTO:0001680|EV:0100082|TGMA:0001279|GAID:312|WBbt:0005364|OpenCyc:Mx4rvVjaEZwpEbGdrcN5Y29ycA|Wikipedia:Anus|MESH:A03.492.411.495.767.288|MA:0000331|SCTID:181262009|galen:Anus|FBbt:00047153|NCIT:C43362 hp.json proctodeum|anal orifice|anal opening|opening of terminal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0001245 human_reference_atlas|uberon_slim|pheno_slim UBERON:0001247 biolink:AnatomicalEntity falciform ligament A ligament that attaches the liver to the anterior body wall. It is a broad and thin antero-posterior peritoneal fold, falciform in shape, its base being directed downward and backward and its apex upward and backward. It is a remnant of the ventral mesentery of the fetus. It is situated in an antero-posterior plane but lies obliquely, so that one surface faces forward and is in contact with the peritoneum behind the right rectus and the diaphragm, while the other is directed backward and is in contact with the left lobe of the liver. It is attached by its left margin to the under surface of the diaphragm and the posterior surface of the sheath of the right Rectus as low down as the umbilicus; by its right margin it extends from the notch on the anterior margin of the liver, as far back as the posterior surface. It is composed of two layers of peritoneum closely united together. Its base or free edge contains between its layers the round ligament and the paraumbilical veins[WP]. FMA:15823|VHOG:0000355|MA:0001622|EHDAA:4856|EMAPA:18288|EHDAA2:0000499|UMLS:C0230240|NCIT:C32582 hp.json falciform ligament of liver|ligamentum falciforme hepatis|ligamentum falciforme (hepatis) http://purl.obolibrary.org/obo/UBERON_0001247 uberon_slim UBERON:0001242 biolink:AnatomicalEntity intestinal mucosa Mucosal layer that lines the intestine. MA:0001537|UMLS:C0021839|NCIT:C49241|EMAPA:35440|FMA:15695|SCTID:362080002|GAID:296|BTO:0000642|MESH:D007413 hp.json tunica mucosa intestini|bowel mucous membrane|mucosa of organ of bowel|bowel mucosa|bowel organ mucosa|mucous membrane of intestine|organ mucosa of intestine|intestine mucosa of organ|mucosa of intestine|mucosa of organ of intestine|intestine mucous membrane|intestine organ mucosa|intestine mucosa|bowel mucosa of organ|mucous membrane of bowel|organ mucosa of bowel|mucosa of bowel http://purl.obolibrary.org/obo/UBERON_0001242 uberon_slim|pheno_slim UBERON:0001243 biolink:AnatomicalEntity serosa of intestine A serous membrane that is part of a wall of intestine [Automatically generated definition]. FMA:15701|MA:0001538|EMAPA:37619 hp.json intestinal serosa|bowel anatomical wall serosa|visceral peritoneum of intestine|anatomical wall of intestine serosa|bowel wall serosa|wall of bowel serous membrane|serous membrane of intestinal wall|intestine serosa|serosa of bowel anatomical wall|serous membrane of intestine anatomical wall|serous membrane of anatomical wall of bowel|serosa of wall of intestine|serous membrane of intestine wall|wall of bowel serosa|bowel wall serous membrane|serosa of bowel wall|serosa of anatomical wall of intestine|serous membrane of wall of bowel|anatomical wall of intestine serous membrane|bowel anatomical wall serous membrane|intestine anatomical wall serosa|serosa of intestinal wall|intestine wall serosa|anatomical wall of bowel serosa|wall of intestine serous membrane|intestinal wall serosa|serosa of intestine anatomical wall|intestinal wall serous membrane|serous membrane of bowel anatomical wall|serous membrane of anatomical wall of intestine|serosa of wall of bowel|serous membrane of bowel wall|serous membrane of wall of intestine|intestine wall serous membrane|serosa of anatomical wall of bowel|anatomical wall of bowel serous membrane|serosa of intestine wall|wall of intestine serosa|intestine anatomical wall serous membrane http://purl.obolibrary.org/obo/UBERON_0001243 OBO:uberon/core#channels_into biolink:NamedThing channels_into hp.json http://purl.obolibrary.org/obo/uberon/core#channels_into GO:0060795 biolink:BiologicalProcess cell fate commitment involved in formation of primary germ layer The commitment of cells to specific cell fates of the endoderm, ectoderm, or mesoderm as a part of gastrulation. hp.json http://purl.obolibrary.org/obo/GO_0060795 UBERON:0013280 biolink:AnatomicalEntity diaphysis of tibia A diaphysis that is part of a tibia. FMA:33125|EMAPA:37770|MA:0003049 hp.json body of tibia|shaft of tibia|shaft of tibia|body of the tibia|tibial diaphysis|corpus tibiae http://purl.obolibrary.org/obo/UBERON_0013280 GO:1901657 biolink:BiologicalProcess glycosyl compound metabolic process The chemical reactions and pathways involving glycosyl compound. hp.json glycosyl compound metabolism http://purl.obolibrary.org/obo/GO_1901657 GO:1901655 biolink:BiologicalProcess cellular response to ketone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ketone stimulus. hp.json http://purl.obolibrary.org/obo/GO_1901655 GO:1901653 biolink:BiologicalProcess cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. hp.json http://purl.obolibrary.org/obo/GO_1901653 GO:1901654 biolink:BiologicalProcess response to ketone A response that results in a state of tolerance to ketone. hp.json process resulting in tolerance to ketone http://purl.obolibrary.org/obo/GO_1901654 UBERON:0039857 biolink:AnatomicalEntity left ovarian vein Ovarian vein, each instance of which is a tributary of some left renal vein that drains the left pampiniform plexus of some broad ligament. FMA:14347 hp.json http://purl.obolibrary.org/obo/UBERON_0039857 GO:1901652 biolink:BiologicalProcess response to peptide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. hp.json http://purl.obolibrary.org/obo/GO_1901652 GO:0045168 biolink:BiologicalProcess cell-cell signaling involved in cell fate commitment Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. hp.json cell-cell signaling resulting in cell fate commitment|cell-cell signaling during in cell fate commitment|cell fate commitment, cell-cell signalling|cell-cell signalling involved in cell fate specification|cell-cell signalling resulting in cell fate commitment|cell-cell signalling during cell fate commitment|cell fate commitment, cell-cell signaling http://purl.obolibrary.org/obo/GO_0045168 UBERON:0039856 biolink:AnatomicalEntity right ovarian vein Ovarian vein, each instance of which is a tributary of some inferior vena cava that drains the right pampiniform plexus of some broad ligament. FMA:14342 hp.json http://purl.obolibrary.org/obo/UBERON_0039856 GO:0045165 biolink:BiologicalProcess cell fate commitment The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. hp.json http://purl.obolibrary.org/obo/GO_0045165 GO:0060784 biolink:BiologicalProcess regulation of cell proliferation involved in tissue homeostasis Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue. hp.json http://purl.obolibrary.org/obo/GO_0060784 GO:0060785 biolink:BiologicalProcess regulation of apoptosis involved in tissue homeostasis Any process that modulates the occurrence or rate of cell death by apoptosis that results in the maintenance of the steady-state number of cells within a tissue. hp.json http://purl.obolibrary.org/obo/GO_0060785 GO:0060786 biolink:BiologicalProcess regulation of cell differentiation involved in tissue homeostasis Any process that modulates the frequency, rate or extent of cell differentiation that contributes to the maintenance of a steady state of a cell type within a tissue. hp.json http://purl.obolibrary.org/obo/GO_0060786 GO:0060788 biolink:BiologicalProcess ectodermal placode formation The developmental process in which an ectodermal placode forms. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm. hp.json http://purl.obolibrary.org/obo/GO_0060788 UBERON:4200230 biolink:AnatomicalEntity surface of bone An anatomical surface that is part of a bone. hp.json bone surface http://purl.obolibrary.org/obo/UBERON_4200230 UBERON:0013279 biolink:AnatomicalEntity diaphysis of fibula A diaphysis that is part of a fibula[Automatically generated definition]. FMA:33738|EMAPA:37892 hp.json body of fibula|fibula diaphysis|corpus fibulae|shaft of fibula http://purl.obolibrary.org/obo/UBERON_0013279 GO:1901661 biolink:BiologicalProcess quinone metabolic process The chemical reactions and pathways involving quinone. hp.json quinone metabolism|quinone cofactor metabolic process|quinone cofactor metabolism http://purl.obolibrary.org/obo/GO_1901661 UBERON:0001295 biolink:AnatomicalEntity endometrium The glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy. NCIT:C12313|EV:0100115|UMLS:C0014180|EMAPA:29917|BTO:0001422|SCTID:278867007|EFO:0000980|Wikipedia:Endometrium|MA:0000390|MAT:0000319|MESH:D004717|FMA:17742|CALOHA:TS-0276|VHOG:0001285|GAID:377|MIAA:0000319 hp.json uterine mucous membrane|tunica mucosa uteri|uterine mucosa|tunica mucosa uteri|uterine endometrium|tunica mucosa (endometrium) http://purl.obolibrary.org/obo/UBERON_0001295 pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0001294 biolink:AnatomicalEntity inner medulla of kidney Innermost region of the mammalian kidney. MA:0001652|BTO:0001745|CALOHA:TS-0506|EMAPA:28349|FMA:17734 hp.json kidney inner medulla|zona interna (medullaris renalis)|zona interna medullae renalis|renal inner medulla|inner renal medulla|set of inner region of renal pyramids|inner zone of renal medulla|inner zone of medulla of kidney http://purl.obolibrary.org/obo/UBERON_0001294 pheno_slim|human_reference_atlas UBERON:0001297 biolink:AnatomicalEntity serosa of uterus Outer serosa layer of the uterus. Wikipedia:Perimetrium|NCIT:C33298|MA:0001729|EMAPA:37792|UMLS:C0227824|FMA:17744|SCTID:253705006 hp.json visceral peritoneum of uterus|serous coat of uterus|serous coat of uterus|uterine serosa|serous membrane of uterus|perimetrium|tunica serosa uteri|tunica serosa (perimetrium)|perimetrium|uterus serosa|uterus serous membrane http://purl.obolibrary.org/obo/UBERON_0001297 UBERON:0001299 biolink:AnatomicalEntity glans penis The conic expansion of the corpus spongiosum that forms the head of the penis. FMA:18247|UMLS:C0227948|OpenCyc:Mx4rvdCpE5wpEbGdrcN5Y29ycA|GAID:0000012|NCIT:C12324|BTO:0003118|MA:0002726|EMAPA:18988|VHOG:0001475|EV:0100108 hp.json balanus|coronal sulcus|glans http://purl.obolibrary.org/obo/UBERON_0001299 pheno_slim|uberon_slim GO:0045184 biolink:BiologicalProcess establishment of protein localization The directed movement of a protein to a specific location. hp.json protein recruitment|protein positioning|establishment of protein localisation http://purl.obolibrary.org/obo/GO_0045184 GO:0045182 biolink:MolecularActivity translation regulator activity Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome. hp.json translation factor activity http://purl.obolibrary.org/obo/GO_0045182 goslim_candida|goslim_generic|goslim_pir|goslim_plant|goslim_drosophila|goslim_aspergillus GO:0045187 biolink:BiologicalProcess regulation of circadian sleep/wake cycle, sleep Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. hp.json regulation of sleep http://purl.obolibrary.org/obo/GO_0045187 UBERON:0001282 biolink:AnatomicalEntity intralobular bile duct The tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule. NCIT:C32255|MA:0002669|FMA:17545|UMLS:C0227517 hp.json ductus interlobularis bilifer|canal of Hering|cholangiole|canals of Hering|intrahepatic bile ductule|duct of Herring|canal of Herring http://purl.obolibrary.org/obo/UBERON_0001282 pheno_slim|uberon_slim UBERON:0001281 biolink:AnatomicalEntity hepatic sinusoid Wide thin-walled blood vessels in the liver. In mammals they have neither veinous or arterial markers. EMAPA:17365|TAO:0005091|UMLS:C0227523|EHDAA2:0000999|VHOG:0000708|NCIT:C32733|ZFA:0005091|FMA:17543|MA:0000367 hp.json liver sinusoid|vas capillare sinusoideum|hepatic sinusoids|sinusoid of liver|vas sinusoideum|liver hepatic sinusoids|liver sinusoidal blood vessel|sinusoidal blood vessel of liver http://purl.obolibrary.org/obo/UBERON_0001281 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core GO:1901681 biolink:MolecularActivity sulfur compound binding Binding to a sulfur compound. hp.json sulfur molecular entity binding http://purl.obolibrary.org/obo/GO_1901681 UBERON:0001280 biolink:AnatomicalEntity liver parenchyma The functional units of the liver including the lobules. FMA:17540|VHOG:0000539|EHDAA:2201|EHDAA2:0001004|NCIT:C32735|XAO:0000454|AAO:0010405|EMAPA:17203|MA:0000366 hp.json parenchyma of liver|hepatic parenchyma|hepatic parenchyme|liver parenchyme http://purl.obolibrary.org/obo/UBERON_0001280 pheno_slim UBERON:0001285 biolink:AnatomicalEntity nephron The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]. BTO:0000924|FMA:17640|EMAPA:35592|MA:0000375|NCIT:C13048|EMAPA:28491|GAID:428|EV:0100384|TAO:0002153|ZFA:0005282|CALOHA:TS-1312|MESH:D009399|UMLS:C0027713 hp.json nephroneum|mature nephron|tubulus renalis http://purl.obolibrary.org/obo/UBERON_0001285 vertebrate_core|pheno_slim|human_reference_atlas|uberon_slim HP:0500152 biolink:PhenotypicFeature Hypocystinemia A decreased amount of cystine in the blood. hp.json Low blood cystine levels|Decreased blood cystine concentration http://purl.obolibrary.org/obo/HP_0500152 HP:0500153 biolink:PhenotypicFeature Hyperargininemia An increased amount of arginine levels in the blood. hp.json Increased blood arginine concentration|High blood arginine levels http://purl.obolibrary.org/obo/HP_0500153 HP:0500150 biolink:PhenotypicFeature Hypoglutamatemia A decreased amount of glutamate in the blood. hp.json Decreased blood glutamate concentrations|Low blood glutamate levels http://purl.obolibrary.org/obo/HP_0500150 HP:0500151 biolink:PhenotypicFeature Hypercystinemia An increased amount of cystine in the blood. hp.json High blood cystine levels|Increased blood cystine concentraions http://purl.obolibrary.org/obo/HP_0500151 HP:0500156 biolink:PhenotypicFeature Hyperasparaginemia An increased amount of asparagine in the blood. hp.json Increased blood asparagine concentration|High blood asaparagine levels http://purl.obolibrary.org/obo/HP_0500156 HP:0500157 biolink:PhenotypicFeature Hypoasparaginemia A decreased amount of asparagine in the blood. hp.json Decreased blood asparagine concentration|Low blood asparagine levels http://purl.obolibrary.org/obo/HP_0500157 HP:0500154 biolink:PhenotypicFeature Hypoalaninemia A decreased amount of alanine in the blood. hp.json Low blood alanine levels|Decreased blood alanine concentration http://purl.obolibrary.org/obo/HP_0500154 HP:0500155 biolink:PhenotypicFeature Abnormal circulating asparagine concentration Any deviation from the normal concentration of asparagine in the blood circulation. hp.json Abnormality of asparagine metabolism http://purl.obolibrary.org/obo/HP_0500155 HP:0500158 biolink:PhenotypicFeature Abnormal circulating aspartic acid concentration Any deviation from the normal concentration of aspartate in the blood circulation. hp.json Abnormal circulating aspartate concentration http://purl.obolibrary.org/obo/HP_0500158 HP:0500159 biolink:PhenotypicFeature Increased level of circulating aspartic acid An increased amount of aspartic acid in the blood. hp.json Increased blood aspartic acid|High blood aspartic acid levels http://purl.obolibrary.org/obo/HP_0500159 GO:0060914 biolink:BiologicalProcess heart formation The developmental process pertaining to the initial formation of the heart from unspecified parts. This process begins with the specific processes that contribute to the appearance of the heart field and the arrival of cardiac neural crest to the heart region. The process ends when the structural rudiment is recognizable. hp.json cardiogenesis http://purl.obolibrary.org/obo/GO_0060914 GO:0060915 biolink:BiologicalProcess mesenchymal cell differentiation involved in lung development The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell of the lung. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. hp.json http://purl.obolibrary.org/obo/GO_0060915 GO:0060916 biolink:BiologicalProcess mesenchymal cell proliferation involved in lung development The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population that contributes to the progression of the lung over time. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. hp.json http://purl.obolibrary.org/obo/GO_0060916 HP:0500160 biolink:PhenotypicFeature Abnormal circulating carnosine concentration Any deviation from the normal concentration of carnosine in the blood circulation. hp.json Abnormality of carnosine metabolism http://purl.obolibrary.org/obo/HP_0500160 HP:0500141 biolink:PhenotypicFeature Hypophenylalaninemia A decreased amount of phenylalanine in the blood. hp.json Decreased blood phenylalanine|Low blood phenylalanine http://purl.obolibrary.org/obo/HP_0500141 HP:0500142 biolink:PhenotypicFeature Hypolysinemia A decreased amount of lysine in the blood. hp.json Decreased blood lysine|Low blood lysine levels http://purl.obolibrary.org/obo/HP_0500142 HP:0500140 biolink:PhenotypicFeature Decreased circulating hydroxyproline concentration A decreased amount of hydroxyproline in the blood. hp.json Decreased hydroxyproline in the blood|Low level of hydroxyproline in the blood http://purl.obolibrary.org/obo/HP_0500140 HP:0500145 biolink:PhenotypicFeature Hypohistidinemia A decreased amount of histidine in the blood. hp.json Low blood histidine levels|Decreased blood histidine concentration http://purl.obolibrary.org/obo/HP_0500145 HP:0500143 biolink:PhenotypicFeature Hypoleucinemia Decreased amount of leucine in the blood. hp.json Low blood leucine levels|Decreased blood concentration of leucine http://purl.obolibrary.org/obo/HP_0500143 HP:0500144 biolink:PhenotypicFeature Hypoisoleucinemia A decreased amount of isoleucine in the blood. hp.json Low blood isoleucine levels|Decreased blood isoleucine concentration http://purl.obolibrary.org/obo/HP_0500144 HP:0500149 biolink:PhenotypicFeature Hyperglutamatemia An increased amount of glutamate in the blood. hp.json High blood glutamate levels|Increased blood glutamate concentration http://purl.obolibrary.org/obo/HP_0500149 GO:0035935 biolink:BiologicalProcess androgen secretion The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates. hp.json http://purl.obolibrary.org/obo/GO_0035935 HP:0500147 biolink:PhenotypicFeature Hypoglutaminemia Decreased amount of glutamine in the blood. hp.json Decreased blood glutamine concentration|Low blood glutamine level http://purl.obolibrary.org/obo/HP_0500147 HP:0500148 biolink:PhenotypicFeature Abnormal circulating glutamate concentration Any deviation from the normal concentration of glutamate in the blood circulation. hp.json Abnormality of glutamate metabolism http://purl.obolibrary.org/obo/HP_0500148 GO:0035930 biolink:NamedThing corticosteroid hormone secretion hp.json http://purl.obolibrary.org/obo/GO_0035930 GO:0035931 biolink:NamedThing mineralocorticoid secretion hp.json http://purl.obolibrary.org/obo/GO_0035931 GO:0035932 biolink:NamedThing aldosterone secretion hp.json http://purl.obolibrary.org/obo/GO_0035932 GO:0060900 biolink:BiologicalProcess embryonic camera-type eye formation The developmental process pertaining to the initial formation of a camera-type eye from unspecified neurectoderm. This process begins with the differentiation of cells that form the optic field and ends when the optic cup has attained its shape. hp.json http://purl.obolibrary.org/obo/GO_0060900 GO:0060907 biolink:BiologicalProcess positive regulation of macrophage cytokine production Any process that increases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. hp.json http://purl.obolibrary.org/obo/GO_0060907 HP:0500134 biolink:PhenotypicFeature Hypertryptophanemia An increased amount of tryptophan in the blood. hp.json Increased tryptophan in blood|High blood tryptophan concentration http://purl.obolibrary.org/obo/HP_0500134 HP:0500135 biolink:PhenotypicFeature Hypotryptophanemia A decreased amount of tryptophan in the blood. hp.json Low blood tryptophan concentration|Decreased tryptophan in blood http://purl.obolibrary.org/obo/HP_0500135 HP:0500132 biolink:PhenotypicFeature Hypovalinemia A decreased amount of valine in the blood. hp.json Low blood valine concentration http://purl.obolibrary.org/obo/HP_0500132 HP:0500133 biolink:PhenotypicFeature Hypotyrosinemia An decreased concentration of tyrosine in the blood. hp.json Decreased tyrosine in blood|Low blood tyrosine concentration http://purl.obolibrary.org/obo/HP_0500133 HP:0500138 biolink:PhenotypicFeature Hyperserinemia An increased amount of serine in the blood. hp.json High blood serine levels|Elevated circulating serine levels|Increased serine blood concentration http://purl.obolibrary.org/obo/HP_0500138 HP:0500139 biolink:PhenotypicFeature Hypoprolinemia A decreased amount of proline in the blood. hp.json Decreased blood proline levels|Low blood proline concentration http://purl.obolibrary.org/obo/HP_0500139 HP:0500136 biolink:PhenotypicFeature Hypothreoninemia A decreased amount of threonine in the blood. hp.json Decreased circulating threonine levels|Low blood threonine concentration|Decreased threonine blood levels http://purl.obolibrary.org/obo/HP_0500136 GO:0035929 biolink:BiologicalProcess steroid hormone secretion The regulated release of any steroid that acts as a hormone into the circulatory system. hp.json http://purl.obolibrary.org/obo/GO_0035929 GO:0060931 biolink:BiologicalProcess sinoatrial node cell development The process whose specific outcome is the progression of a sinoatrial (SA) node cell over time, from its formation to the mature state. SA node cells are pacemaker cells that are found in the sinoatrial node. hp.json SA node cell development|SAN cell development|sinus node cell development http://purl.obolibrary.org/obo/GO_0060931 GO:0060932 biolink:BiologicalProcess His-Purkinje system cell differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell of the His-Purkinje system. These cells form the fibers regulate cardiac muscle contraction in the ventricles. hp.json http://purl.obolibrary.org/obo/GO_0060932 GO:0060933 biolink:BiologicalProcess His-Purkinje system cell development The process whose specific outcome is the progression of a His-Purkinje cell over time, from its formation to the mature state. These cells form the fibers that regulate cardiac muscle contraction in the ventricles. hp.json http://purl.obolibrary.org/obo/GO_0060933 GO:0060935 biolink:BiologicalProcess cardiac fibroblast cell differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cardiac fibroblast. A cardiac fibroblast is a connective tissue cell in the heart which secretes an extracellular matrix rich in collagen and other macromolecules. hp.json http://purl.obolibrary.org/obo/GO_0060935 GO:0060936 biolink:BiologicalProcess cardiac fibroblast cell development The process whose specific outcome is the progression of a cardiac fibroblast over time, from its formation to the mature state. A cardiac fibroblast is a connective tissue cell of the heart which secretes an extracellular matrix rich in collagen and other macromolecules. hp.json http://purl.obolibrary.org/obo/GO_0060936 GO:0035911 biolink:BiologicalProcess descending aorta morphogenesis The process in which the anatomical structures of the descending aorta are generated and organized. The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries. In a two-pass circulatory system blood passes twice through the heart to supply the body once. hp.json http://purl.obolibrary.org/obo/GO_0035911 GO:0035912 biolink:BiologicalProcess dorsal aorta morphogenesis The process in which the anatomical structures of the dorsal aorta are generated and organized. The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. hp.json http://purl.obolibrary.org/obo/GO_0035912 GO:0035914 biolink:BiologicalProcess skeletal muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle cell, a somatic cell located in skeletal muscle. hp.json http://purl.obolibrary.org/obo/GO_0035914 GO:0060920 biolink:BiologicalProcess cardiac pacemaker cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a pacemaker cell. Pacemaker cells are specialized cardiomyocytes that are responsible for regulating the timing of heart contractions. hp.json pacemaker cell differentiation http://purl.obolibrary.org/obo/GO_0060920 GO:0060921 biolink:BiologicalProcess sinoatrial node cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a sinoatrial (SA) node cell. SA node cells are pacemaker cells that are found in the sinoatrial node. hp.json sinus node cell differentiation|SA node cell differentiation|SAN cell differentiation http://purl.obolibrary.org/obo/GO_0060921 GO:0060922 biolink:BiologicalProcess atrioventricular node cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an atrioventricular (AV) node cell. AV node cells are pacemaker cells that are found in the atrioventricular node. hp.json AV node cell differentiation http://purl.obolibrary.org/obo/GO_0060922 GO:0060926 biolink:BiologicalProcess cardiac pacemaker cell development The process whose specific outcome is the progression of a pacemaker cell over time, from its formation to the mature state. Pacemaker cells are specialized cardiomyocytes that are responsible for regulating the timing of heart contractions. hp.json pacemaker cell development http://purl.obolibrary.org/obo/GO_0060926 GO:0060928 biolink:BiologicalProcess atrioventricular node cell development The process whose specific outcome is the progression of an atrioventricular (AV) node cell over time, from its formation to the mature state. hp.json AV node cell development http://purl.obolibrary.org/obo/GO_0060928 GO:0035909 biolink:BiologicalProcess aorta morphogenesis The process in which the anatomical structures of an aorta are generated and organized. An aorta is an artery that carries blood from the heart to other parts of the body. hp.json http://purl.obolibrary.org/obo/GO_0035909 HP:0030490 biolink:PhenotypicFeature Exudative vitreoretinopathy UMLS:C4072980 hp.json http://purl.obolibrary.org/obo/HP_0030490 UBERON:0003528 biolink:AnatomicalEntity brain gray matter A gray matter that is part of a brain [Automatically generated definition]. NCIT:C49333|UMLS:C1707348|MA:0000810|EMAPA:35184 hp.json gray matter of brain|grey substance of brain|grey matter of brain|brain grey substance|brain grey matter http://purl.obolibrary.org/obo/UBERON_0003528 HP:0500112 biolink:PhenotypicFeature Positive urine amphetamine test Detection of amphetamine or its metabolites in urine. hp.json http://purl.obolibrary.org/obo/HP_0500112 UBERON:0003529 biolink:AnatomicalEntity respiratory system lymphatic vessel endothelium An lymphatic vessel endothelium that is part of a respiratory system [Automatically generated definition]. MA:0001825|EMAPA:37581 hp.json endothelium of lymph vessel of respiratory system|apparatus respiratorius lymph vessel endothelium|apparatus respiratorius endothelium of lymph vessel|lymph vessel endothelium of apparatus respiratorius|lymphatic vessel endothelium of respiratory system|lymphatic vessel endothelium of apparatus respiratorius|respiratory system lymphatic vessel endothelium|lymph vessel endothelium of respiratory system|respiratory system endothelium of lymph vessel|respiratory system lymph vessel endothelium|endothelium of lymph vessel of apparatus respiratorius|apparatus respiratorius lymphatic vessel endothelium http://purl.obolibrary.org/obo/UBERON_0003529 human_reference_atlas HP:0500113 biolink:PhenotypicFeature Positive urine opioid test Detection of opioids or opioid metabolites in urine. hp.json http://purl.obolibrary.org/obo/HP_0500113 UBERON:0003526 biolink:AnatomicalEntity respiratory system capillary A capillary that is part of a respiratory system [Automatically generated definition]. EMAPA:37574|MA:0001807 hp.json capillary vessel of respiratory system|capillary of apparatus respiratorius|respiratory system blood capillary|respiratory system capillary vessel|capillary of respiratory system|capillary vessel of apparatus respiratorius|apparatus respiratorius capillary|apparatus respiratorius capillary vessel|blood capillary of respiratory system|blood capillary of apparatus respiratorius|apparatus respiratorius blood capillary http://purl.obolibrary.org/obo/UBERON_0003526 HP:0500110 biolink:PhenotypicFeature Positive urine cannabinoid test Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine. hp.json Positive urine marijuana test|Postive urine pot test http://purl.obolibrary.org/obo/HP_0500110 HP:0500111 biolink:PhenotypicFeature Positive urine benzodiazepines test Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine. hp.json http://purl.obolibrary.org/obo/HP_0500111 UBERON:0003527 biolink:AnatomicalEntity kidney capillary A capillary that is part of a kidney [Automatically generated definition]. EMAPA:31443|MA:0002586 hp.json capillary of kidney|blood capillary of kidney|capillary vessel of kidney|kidney capillary vessel|renal capillary|kidney blood capillary http://purl.obolibrary.org/obo/UBERON_0003527 pheno_slim HP:0500116 biolink:PhenotypicFeature Positive blood barbiturate test Detection of barbiturate metabolites such as Phenobarbital in blood. hp.json http://purl.obolibrary.org/obo/HP_0500116 HP:0030495 biolink:PhenotypicFeature Abnormality morphology of the macular vasculature Any structural anomaly of the blood vessels of the macula. UMLS:C4072983 hp.json Abnormality of macular vasculature http://purl.obolibrary.org/obo/HP_0030495 HP:0030496 biolink:PhenotypicFeature Macular exudate Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. UMLS:C4072984 hp.json Macular exudates|Macular exudation http://purl.obolibrary.org/obo/HP_0030496 HP:0500117 biolink:PhenotypicFeature Abnormal CSF urate concentration Abnormal concentration of urate in the cerebrospinal fluid (CSF). hp.json http://purl.obolibrary.org/obo/HP_0500117 HP:0500114 biolink:PhenotypicFeature Abnormal stool urobilinogen concentration Abnormal concentration of urobilinogen present in the stool. hp.json http://purl.obolibrary.org/obo/HP_0500114 HP:0030497 biolink:PhenotypicFeature Macular cotton wool spot Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. UMLS:C4072985 hp.json http://purl.obolibrary.org/obo/HP_0030497 HP:0500115 biolink:PhenotypicFeature Increased stool urobilinogen concentration An increased amount of urobilinogen present in the stool. hp.json http://purl.obolibrary.org/obo/HP_0500115 HP:0030498 biolink:PhenotypicFeature Macular thickening Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. UMLS:C4072986 hp.json http://purl.obolibrary.org/obo/HP_0030498 GO:0035904 biolink:BiologicalProcess aorta development The progression of the aorta over time, from its initial formation to the mature structure. An aorta is an artery that carries blood from the heart to other parts of the body. hp.json http://purl.obolibrary.org/obo/GO_0035904 HP:0030491 biolink:PhenotypicFeature Choriocapillaris atrophy Atrophy of the capillary lamina of choroid. UMLS:C3275758 hp.json http://purl.obolibrary.org/obo/HP_0030491 GO:0035906 biolink:BiologicalProcess descending aorta development The progression of the descending aorta over time, from its initial formation to the mature structure. The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries. In a two-pass circulatory system blood passes twice through the heart to supply the body once. hp.json http://purl.obolibrary.org/obo/GO_0035906 HP:0030493 biolink:PhenotypicFeature Abnormality of foveal pigmentation An anomaly of the pigmentation in the fovea centralis. UMLS:C4072981 hp.json http://purl.obolibrary.org/obo/HP_0030493 GO:0035907 biolink:BiologicalProcess dorsal aorta development The progression of the dorsal aorta over time, from its initial formation to the mature structure. The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. hp.json http://purl.obolibrary.org/obo/GO_0035907 HP:0030494 biolink:PhenotypicFeature Macular microaneurysm/hemorrhage Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms). UMLS:C4072982 hp.json http://purl.obolibrary.org/obo/HP_0030494 GO:0060950 biolink:BiologicalProcess cardiac glial cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a glial cell of the heart. hp.json http://purl.obolibrary.org/obo/GO_0060950 HP:0030499 biolink:PhenotypicFeature Macular drusen Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula. SNOMEDCT_US:247154004|UMLS:C0677628 hp.json Lipid accumulation in macula http://purl.obolibrary.org/obo/HP_0030499 GO:0060952 biolink:BiologicalProcess cardiac glial cell development The process aimed at the progression of a cardiac glial cell over time, from its formation to the fully functional mature cell. hp.json http://purl.obolibrary.org/obo/GO_0060952 UBERON:0003535 biolink:AnatomicalEntity vagus X nerve trunk A nerve trunk that is part of a vagus nerve. EHDAA2:0002160|EHDAA:4659|FMA:6221|VHOG:0000736|EMAPA:17272|MA:0001150 hp.json trunk of vagal nerve|vagus neural trunk|vagal nerve trunk|trunk of vagus nerve|vagal X nerve trunk|vagus nerve trunk http://purl.obolibrary.org/obo/UBERON_0003535 GO:0060956 biolink:BiologicalProcess endocardial cell differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of an endocardial cell. An endocardial cell is a specialized endothelial cell that makes up the endocardium portion of the heart. The endocardium is the innermost layer of tissue of the heart, and lines the heart chambers. hp.json http://purl.obolibrary.org/obo/GO_0060956 UBERON:0003533 biolink:AnatomicalEntity manual digit skin A zone of skin that is part of a finger [Automatically generated definition]. FMA:38304|NCIT:C52720|EMAPA:32648|UMLS:C1708318|MA:0000626 hp.json skin of hand digit|skin of digit of hand|skin of finger|hand digit skin|hand digit skin|skin of digitus manus|skin of digit of terminal segment of free upper limb|digitus manus skin|fore limb digit skin|digit of hand skin|digit of terminal segment of free upper limb skin|finger skin|terminal segment of free upper limb digit skin|skin of terminal segment of free upper limb digit http://purl.obolibrary.org/obo/UBERON_0003533 UBERON:0003534 biolink:AnatomicalEntity tail skin A zone of skin that is part of a tail [Automatically generated definition]. MA:0000700|EMAPA:36502 hp.json post-vent region skin|skin of post-vent region|skin of tail http://purl.obolibrary.org/obo/UBERON_0003534 pheno_slim GO:0060958 biolink:BiologicalProcess endocardial cell development The progression of an endocardial cell over time, from its formation to the mature cell. An endocardial cell is a specialized endothelial cell that makes up the endocardium portion of the heart. hp.json http://purl.obolibrary.org/obo/GO_0060958 UBERON:0003531 biolink:AnatomicalEntity forelimb skin A zone of skin that is part of a forelimb [Automatically generated definition]. FMA:23101|UMLS:C0222212|EMAPA:32612|MA:0000617|NCIT:C12296 hp.json skin of fore limb|upper limb skin|wing skin|fore limb skin|anteriormost limb skin|skin of upper limb|skin of forelimb http://purl.obolibrary.org/obo/UBERON_0003531 GO:0060959 biolink:BiologicalProcess cardiac neuron development The process whose specific outcome is the progression of a cardiac neuron over time, from its formation to the mature state. hp.json heart neuron development http://purl.obolibrary.org/obo/GO_0060959 UBERON:0003532 biolink:AnatomicalEntity hindlimb skin A zone of skin that is part of a hindlimb [Automatically generated definition]. MA:0000665|UMLS:C0222268|NCIT:C12297|EMAPA:32620|FMA:23102 hp.json hind limb skin|skin of lower extremity|skin of hindlimb|lower limb skin|skin of lower limb|skin of hind limb http://purl.obolibrary.org/obo/UBERON_0003532 UBERON:0003530 biolink:AnatomicalEntity pedal digit skin A zone of skin that is part of a toe [Automatically generated definition]. UMLS:C1708089|MA:0000650|NCIT:C52719|EMAPA:32942|FMA:37852 hp.json skin of foot digit|foot digit skin|skin of digitus pedis|skin of digit of foot|skin of digit of terminal segment of free lower limb|digit of foot skin|digitus pedis skin|foot digit skin|digit of terminal segment of free lower limb skin|hind limb digit skin|skin of terminal segment of free lower limb digit|skin of toe|toe skin|terminal segment of free lower limb digit skin http://purl.obolibrary.org/obo/UBERON_0003530 UBERON:0003519 biolink:AnatomicalEntity thoracic cavity blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. EMAPA:37240|MA:0000554 hp.json chest cavity blood vessel|blood vessel of cavity of thorax|cavity of thorax blood vessel|blood vessel of thoracic cavity|blood vessel of cavity of chest|blood vessel of pectoral cavity|pectoral cavity blood vessel|blood vessel of chest cavity|cavity of chest blood vessel http://purl.obolibrary.org/obo/UBERON_0003519 UBERON:0003517 biolink:AnatomicalEntity kidney blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. EMAPA:28457|ZFA:0005306|TAO:0005306|MA:0001682 hp.json renal blood vessel|blood vessel of kidney http://purl.obolibrary.org/obo/UBERON_0003517 pheno_slim|vertebrate_core HP:0500101 biolink:PhenotypicFeature Gastric fluid xenobiotic Presence of a xenobiotic in gastric fluid. hp.json http://purl.obolibrary.org/obo/HP_0500101 UBERON:0003515 biolink:AnatomicalEntity forelimb blood vessel A blood vessel that is part of a forelimb [Automatically generated definition]. MA:0000611|EMAPA:37292 hp.json fore limb blood vessel|anteriormost limb blood vessel|blood vessel of forelimb|blood vessel of anteriormost limb|blood vessel of upper extremity|blood vessel of fore limb|wing blood vessel http://purl.obolibrary.org/obo/UBERON_0003515 UBERON:0003516 biolink:AnatomicalEntity hindlimb blood vessel A blood vessel that is part of a hindlimb [Automatically generated definition]. MA:0000659|EMAPA:37298 hp.json blood vessel of hind limb|hind limb blood vessel|blood vessel of lower extremity|blood vessel of hindlimb http://purl.obolibrary.org/obo/UBERON_0003516 HP:0500100 biolink:PhenotypicFeature Plasma/serum xenobiotic Presence of a xenobiotic in plasma and/or serum. hp.json http://purl.obolibrary.org/obo/HP_0500100 HP:0500105 biolink:PhenotypicFeature Decreased systolic blood pressure Abnormal decrease in systolic blood pressure. hp.json Decreased systolic BP|Reduced systolic blood pressure http://purl.obolibrary.org/obo/HP_0500105 HP:0500106 biolink:PhenotypicFeature Isolated systolic hypertension Elevated systolic blood pressure without an elevated blood pressure. hp.json http://purl.obolibrary.org/obo/HP_0500106 HP:0500104 biolink:PhenotypicFeature Decreased diastolic blood pressure Abnormal decrease in diastolic blood pressure. hp.json Decreased diastolic BP|Reduced diastolic blood pressure http://purl.obolibrary.org/obo/HP_0500104 GO:0045321 biolink:BiologicalProcess leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. Wikipedia:Immunologic_activation hp.json immune cell activation|leucocyte activation http://purl.obolibrary.org/obo/GO_0045321 HP:0500109 biolink:PhenotypicFeature Positive urine barbiturate test Detection of barbiturate metabolites such as Phenobarbital in urine. hp.json http://purl.obolibrary.org/obo/HP_0500109 HP:0500107 biolink:PhenotypicFeature Isolated diastolic hypotension A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg). hp.json http://purl.obolibrary.org/obo/HP_0500107 HP:0500108 biolink:PhenotypicFeature Positive urine cocaine test Detection of cocaine or its major metabolite, benzoylecgonine, in urine. hp.json http://purl.obolibrary.org/obo/HP_0500108 UBERON:0003524 biolink:AnatomicalEntity tail blood vessel A blood vessel that is part of a tail [Automatically generated definition]. MA:0000695|EMAPA:35848 hp.json post-vent region blood vessel|blood vessel of post-vent region|blood vessel of tail http://purl.obolibrary.org/obo/UBERON_0003524 GO:0060945 biolink:BiologicalProcess cardiac neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron of the heart. hp.json heart neuron differentiation http://purl.obolibrary.org/obo/GO_0060945 UBERON:0003522 biolink:AnatomicalEntity manual digit blood vessel A blood vessel that is part of a finger [Automatically generated definition]. EMAPA:37297|MA:0000621 hp.json blood vessel of terminal segment of free upper limb digit|finger blood vessel|terminal segment of free upper limb digit blood vessel|hand digit blood vessel|hand digit blood vessel|blood vessel of digit of terminal segment of free upper limb|digit of terminal segment of free upper limb blood vessel http://purl.obolibrary.org/obo/UBERON_0003522 GO:0060946 biolink:BiologicalProcess cardiac blood vessel endothelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a blood vessel endothelial cell of the heart. Blood vessel endothelial cells are thin flattened cells that line the inside surfaces of blood vessels. hp.json http://purl.obolibrary.org/obo/GO_0060946 UBERON:0003523 biolink:AnatomicalEntity manus blood vessel A blood vessel that is part of a manus [Automatically generated definition]. EMAPA:37296|MA:0000618 hp.json blood vessel of hand|blood vessel of manus|hand blood vessel http://purl.obolibrary.org/obo/UBERON_0003523 UBERON:0003520 biolink:AnatomicalEntity pelvis blood vessel A blood vessel that is part of a pelvis [Automatically generated definition]. MA:0000531|EMAPA:37244 hp.json blood vessel of pelvis http://purl.obolibrary.org/obo/UBERON_0003520 UBERON:0003521 biolink:AnatomicalEntity pes blood vessel A blood vessel that is part of a foot [Automatically generated definition]. MA:0000642|EMAPA:37301 hp.json blood vessel of foot|foot blood vessel http://purl.obolibrary.org/obo/UBERON_0003521 UBERON:0003508 biolink:AnatomicalEntity pedal digit blood vessel A blood vessel that is part of a toe [Automatically generated definition]. EMAPA:37302|MA:0000645 hp.json digitus pedis blood vessel|digit of foot blood vessel|blood vessel of toe|blood vessel of terminal segment of free lower limb digit|digit of terminal segment of free lower limb blood vessel|hind limb digit blood vessel|terminal segment of free lower limb digit blood vessel|toe blood vessel|foot digit blood vessel|blood vessel of foot digit|blood vessel of digit of foot|blood vessel of digitus pedis|foot digit blood vessel|blood vessel of digit of terminal segment of free lower limb http://purl.obolibrary.org/obo/UBERON_0003508 UBERON:0003509 biolink:AnatomicalEntity arterial blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. MA:0000061|EMAPA:35144 hp.json http://purl.obolibrary.org/obo/UBERON_0003509 pheno_slim UBERON:0003506 biolink:AnatomicalEntity chest blood vessel A blood vessel that is part of a chest [Automatically generated definition]. MA:0000549|EMAPA:37239 hp.json anterior thoracic region blood vessel|blood vessel of anterolateral part of thorax|blood vessel of anterior thoracic region|anterolateral part of thorax blood vessel|blood vessel of chest|front of thorax blood vessel|blood vessel of front of thorax http://purl.obolibrary.org/obo/UBERON_0003506 UBERON:0003507 biolink:AnatomicalEntity arm blood vessel A blood vessel that is part of an arm [Automatically generated definition]. MA:0000591|EMAPA:37293 hp.json blood vessel of arm http://purl.obolibrary.org/obo/UBERON_0003507 UBERON:0003504 biolink:AnatomicalEntity respiratory system blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. EMAPA:35995|EMAPA:35731|MA:0001799 hp.json blood vessel of apparatus respiratorius|apparatus respiratorius blood vessel|blood vessel of respiratory system http://purl.obolibrary.org/obo/UBERON_0003504 UBERON:0003505 biolink:AnatomicalEntity trachea blood vessel A blood vessel that is part of a trachea. EMAPA:35874|MA:0001852 hp.json blood vessel of trachea http://purl.obolibrary.org/obo/UBERON_0003505 human_reference_atlas GO:0060973 biolink:BiologicalProcess cell migration involved in heart development The orderly movement of a cell from one site to another that will contribute to the progression of the heart over time, from its initial formation, to the mature organ. hp.json http://purl.obolibrary.org/obo/GO_0060973 GO:0060974 biolink:BiologicalProcess cell migration involved in heart formation The orderly movement of a cell from one site to another that contribute to the formation of the heart. The initial heart structure is made up of mesoderm-derived heart progenitor cells and neural crest-derived cells. hp.json http://purl.obolibrary.org/obo/GO_0060974 GO:0060976 biolink:BiologicalProcess coronary vasculature development The process whose specific outcome is the progression of the blood vessels of the heart over time, from its formation to the mature structure. hp.json coronary blood vessel development|heart vasculature development|heart blood vessel development|cardiac blood vessel development|cardiac vasculature development http://purl.obolibrary.org/obo/GO_0060976 UBERON:0003513 biolink:AnatomicalEntity trunk blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. MA:0000511|EMAPA:37237 hp.json blood vessel of trunk|blood vessel of torso|torso blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 GO:0060977 biolink:BiologicalProcess coronary vasculature morphogenesis The process in which the anatomical structures of blood vessels of the heart are generated and organized. The blood vessel is the vasculature carrying blood. hp.json cardiac blood vessel morphogenesis|cardiac vasculature morphogenesis|heart vasculature morphogenesis|coronary blood vessel morphogenesis|heart blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_0060977 GO:0060978 biolink:BiologicalProcess angiogenesis involved in coronary vascular morphogenesis Blood vessel formation in the heart when new vessels emerge from the proliferation of pre-existing blood vessels. hp.json angiogenesis involved in cardiac vascular morphogenesis|coronary vasculature angiogenesis|coronary blood vessel angiogenesis|angiogenesis involved in heart vascular morphogenesis http://purl.obolibrary.org/obo/GO_0060978 UBERON:0003514 biolink:AnatomicalEntity limb blood vessel A blood vessel that is part of a limb [Automatically generated definition]. EMAPA:36598|MA:0000687 hp.json blood vessel of limb http://purl.obolibrary.org/obo/UBERON_0003514 UBERON:0003511 biolink:AnatomicalEntity iris blood vessel A blood vessel that is part of a iris [Automatically generated definition]. EMAPA:37387|MA:0001290|ZFA:0005568 hp.json blood vessel of iris http://purl.obolibrary.org/obo/UBERON_0003511 vertebrate_core GO:0060979 biolink:BiologicalProcess vasculogenesis involved in coronary vascular morphogenesis The differentiation of endothelial cells from progenitor cells that contributes to blood vessel development in the heart, and the de novo formation of blood vessels and tubes. hp.json vasculogenesis involved in coronary blood vessel morphogenesis|coronary vasculogenesis http://purl.obolibrary.org/obo/GO_0060979 UBERON:0003512 biolink:AnatomicalEntity lung blood vessel A blood vessel that is part of a lung [Automatically generated definition]. MA:0002457|EMAPA:32867 hp.json pulmonary vascular element|blood vessel of lung http://purl.obolibrary.org/obo/UBERON_0003512 pheno_slim UBERON:0003510 biolink:AnatomicalEntity eyelid blood vessel A blood vessel that is part of a eyelid [Automatically generated definition]. EMAPA:37388|MA:0001250 hp.json blood vessel of blepharon|blood vessel of eyelid|blepharon blood vessel http://purl.obolibrary.org/obo/UBERON_0003510 UBERON:0003502 biolink:AnatomicalEntity neck blood vessel A blood vessel that is part of a neck [Automatically generated definition]. MA:0000583|EMAPA:37236 hp.json blood vessel of neck|neck (volume) blood vessel|blood vessel of neck (volume) http://purl.obolibrary.org/obo/UBERON_0003502 UBERON:0003503 biolink:AnatomicalEntity leg blood vessel A blood vessel that is part of a leg [Automatically generated definition]. MA:0000669|EMAPA:36500 hp.json blood vessel of leg http://purl.obolibrary.org/obo/UBERON_0003503 UBERON:0003500 biolink:AnatomicalEntity corneal blood vessel A blood vessel that is part of a cornea [Automatically generated definition]. EMAPA:36611|MA:0001241 hp.json blood vessel of cornea|cornea blood vessel http://purl.obolibrary.org/obo/UBERON_0003500 UBERON:0003501 biolink:AnatomicalEntity retina blood vessel A blood vessel that is part of a retina [Automatically generated definition]. SCTID:280692003|MA:0001317|MESH:D012171|EMAPA:36520|GAID:509|XAO:0004153 hp.json blood vessel of inner layer of eyeball|blood vessel of retina|tunica interna of eyeball blood vessel|inner layer of eyeball blood vessel|retinal blood vessel|blood vessel of tunica interna of eyeball http://purl.obolibrary.org/obo/UBERON_0003501 pheno_slim HP:0005490 biolink:PhenotypicFeature Postnatal macrocephaly The postnatal development of an abnormally large skull (macrocephaly). UMLS:C1854417 hp.json Macrocephaly, postnatal http://purl.obolibrary.org/obo/HP_0005490 HP:0030451 biolink:PhenotypicFeature Mesenteric cyst A closed fluid filled sac originating from the mesentary. SNOMEDCT_US:253802003|MSH:D008639|SNOMEDCT_US:27970007|UMLS:C0025467 hp.json http://purl.obolibrary.org/obo/HP_0030451 HP:0030452 biolink:PhenotypicFeature Chylolymphatic mesenteric cyst A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid. UMLS:C4072944 hp.json http://purl.obolibrary.org/obo/HP_0030452 HP:0030453 biolink:PhenotypicFeature Abnormal visual electrophysiology UMLS:C4072945 hp.json http://purl.obolibrary.org/obo/HP_0030453 HP:0030454 biolink:PhenotypicFeature Abnormal electrooculogram The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. UMLS:C0159104|SNOMEDCT_US:442770004 hp.json Abnormal EOG http://purl.obolibrary.org/obo/HP_0030454 HP:0030450 biolink:PhenotypicFeature Neoplasm of the autonomic nervous system A tumor that arises from an element of the autonomic nervous system. NCIT:C5112|UMLS:C4072943 hp.json http://purl.obolibrary.org/obo/HP_0030450 HP:0030455 biolink:PhenotypicFeature Abnormality of pattern visual evoked potentials UMLS:C4072946 hp.json http://purl.obolibrary.org/obo/HP_0030455 HP:0030456 biolink:PhenotypicFeature Abnormality of pattern onset/offset visual evoked potentials UMLS:C4072947 hp.json Abnormality of pattern onset/offset VEP http://purl.obolibrary.org/obo/HP_0030456 HP:0030457 biolink:PhenotypicFeature Abnormal amplitude of pattern onset/offset visual evoked potentials UMLS:C4072948 hp.json Abnormal amplitude of pattern onset/offset VEP http://purl.obolibrary.org/obo/HP_0030457 HP:0030458 biolink:PhenotypicFeature Abnormal timing of pattern onset/offset visual evoked potentials UMLS:C4072949 hp.json http://purl.obolibrary.org/obo/HP_0030458 HP:0005484 biolink:PhenotypicFeature Secondary microcephaly Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. UMLS:C1847514 hp.json Deceleration of head growth|Development of small head that was not present at birth|Postnatal deceleration of head circumference|Acquired microcephaly|Microcephaly, postnatal|Postnatal microcephaly|Microcephaly, acquired http://purl.obolibrary.org/obo/HP_0005484 HP:0005486 biolink:PhenotypicFeature Small fontanelle A fontanelle that is small for age. UMLS:C4072855|UMLS:C4072854|SNOMEDCT_US:276710001|UMLS:C0456133 hp.json Little fontanelle|Small bregma sutures|Microfontanelle|Small cranial sutures|Little cranial sutures|Small soft spot http://purl.obolibrary.org/obo/HP_0005486 hposlim_core HP:0005487 biolink:PhenotypicFeature Prominent metopic ridge Vertical bony ridge positioned in the midline of the forehead. UMLS:C1857949 hp.json Ridging of metopic suture|Prominent frontal ridge|Prominent frontal suture|Prominent metopic suture|Ridging of frontal suture http://purl.obolibrary.org/obo/HP_0005487 hposlim_core GO:0033366 biolink:BiologicalProcess protein localization to secretory granule A process in which a protein is transported to, or maintained in, a location within a secretory granule. hp.json protein localisation in secretory granule|protein localization in secretory granule http://purl.obolibrary.org/obo/GO_0033366 GO:0033365 biolink:BiologicalProcess protein localization to organelle A process in which a protein is transported to, or maintained in, a location within an organelle. hp.json protein localization in organelle|protein localisation to organelle http://purl.obolibrary.org/obo/GO_0033365 HP:0005482 biolink:PhenotypicFeature Abnormality of the alternative complement pathway A deviation in any aspect of the alternative complement pathway. UMLS:C4025191 hp.json http://purl.obolibrary.org/obo/HP_0005482 GO:0033363 biolink:BiologicalProcess secretory granule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. hp.json secretory granule organization and biogenesis|secretory granule organisation http://purl.obolibrary.org/obo/GO_0033363 HP:0005483 biolink:PhenotypicFeature Abnormal epiglottis morphology An abnormality of the epiglottis. UMLS:C4025190 hp.json Abnormality of the epiglottis http://purl.obolibrary.org/obo/HP_0005483 HP:0030462 biolink:PhenotypicFeature Abnormal amplitude of flash visual evoked potentials UMLS:C4072952 hp.json http://purl.obolibrary.org/obo/HP_0030462 HP:0030463 biolink:PhenotypicFeature Asymmetrical distribution of flash visual evoked potentials UMLS:C4072953 hp.json Crossed asymmetry of flash visual evoked potentials http://purl.obolibrary.org/obo/HP_0030463 HP:0030464 biolink:PhenotypicFeature Asymmetrical distribution of pattern reversal visual evoked potentials UMLS:C4072954 hp.json Crossed asymmetry of pattern reversal visual evoked potentials http://purl.obolibrary.org/obo/HP_0030464 HP:0030465 biolink:PhenotypicFeature Undetectable light-adapted electroretinogram No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. UMLS:C4072955 hp.json Absent photopic (cone) responses on ERG|non-detectable photopic ERG http://purl.obolibrary.org/obo/HP_0030465 HP:0030460 biolink:PhenotypicFeature Abnormal timing of pattern reversal visual evoked potentials UMLS:C4072950 hp.json http://purl.obolibrary.org/obo/HP_0030460 HP:0030461 biolink:PhenotypicFeature Abnormal timing of flash visual evoked potentials UMLS:C4072951 hp.json http://purl.obolibrary.org/obo/HP_0030461 HP:0030466 biolink:PhenotypicFeature Abnormal full-field electroretinogram UMLS:C4072956 hp.json http://purl.obolibrary.org/obo/HP_0030466 HP:0030467 biolink:PhenotypicFeature Abnormal pattern electroretinogram An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. UMLS:C4072957 hp.json http://purl.obolibrary.org/obo/HP_0030467 HP:0030468 biolink:PhenotypicFeature Abnormal multifocal electroretinogram UMLS:C4072958 hp.json http://purl.obolibrary.org/obo/HP_0030468 HP:0030469 biolink:PhenotypicFeature Abnormal dark-adapted electroretinogram UMLS:C4072959 hp.json http://purl.obolibrary.org/obo/HP_0030469 HP:0005495 biolink:PhenotypicFeature Metopic suture patent to nasal root The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. UMLS:C4025189 hp.json http://purl.obolibrary.org/obo/HP_0005495 HP:0005498 biolink:PhenotypicFeature Midline skin dimples over anterior/posterior fontanelles UMLS:C1855690 hp.json http://purl.obolibrary.org/obo/HP_0005498 HP:0005494 biolink:PhenotypicFeature Premature posterior fontanelle closure UMLS:C1839126 hp.json http://purl.obolibrary.org/obo/HP_0005494 HP:0030473 biolink:PhenotypicFeature Abnormal light-adapted flicker electroretinogram UMLS:C4072963 hp.json Abnormal light adapted flicker electroretinogram|Abnormal light-adapted 30Hz flicker electroretinogram|Abnormal light-adapted flicker ERG|Abnormal light-adapted 30Hz flicker ERG http://purl.obolibrary.org/obo/HP_0030473 HP:0030474 biolink:PhenotypicFeature Undetectable dark-adapted electroretinogram UMLS:C4072964 hp.json http://purl.obolibrary.org/obo/HP_0030474 HP:0030475 biolink:PhenotypicFeature Abnormal timing of dark-adapted dim flash electroretinogram UMLS:C4072965 hp.json http://purl.obolibrary.org/obo/HP_0030475 HP:0030476 biolink:PhenotypicFeature Abnormal amplitude of dark-adapted dim flash electroretinogram UMLS:C4072966 hp.json http://purl.obolibrary.org/obo/HP_0030476 HP:0030470 biolink:PhenotypicFeature Abnormal dark-adapted bright flash electroretinogram UMLS:C4072960 hp.json http://purl.obolibrary.org/obo/HP_0030470 HP:0030471 biolink:PhenotypicFeature Abnormal dark-adapted dim flash electroretinogram UMLS:C4072961 hp.json http://purl.obolibrary.org/obo/HP_0030471 HP:0030472 biolink:PhenotypicFeature Abnormal light-adapted single flash electroretinogram UMLS:C4072962 hp.json http://purl.obolibrary.org/obo/HP_0030472 HP:0005466 biolink:PhenotypicFeature Hypoplasia of the frontal bone Underdevelopment of the frontal bone. UMLS:C4280484|UMLS:C4280483|UMLS:C1845147 hp.json Decreased size of bone of forehead|Thin bone of forehead|Hypoplastic frontal bones|Hypotrophic frontal bone|Underdevelopment of bone of forehead|Hypotrophic frontal bones|Small bone of forehead http://purl.obolibrary.org/obo/HP_0005466 HP:0030477 biolink:PhenotypicFeature Abnormal timing of dark-adapted bright flash electroretinogram UMLS:C4072967 hp.json http://purl.obolibrary.org/obo/HP_0030477 HP:0030478 biolink:PhenotypicFeature Abnormal amplitude of dark-adapted bright flash electroretinogram UMLS:C4072968 hp.json http://purl.obolibrary.org/obo/HP_0030478 HP:0030479 biolink:PhenotypicFeature Abnormal amplitude of light-adapted flicker electroretinogram UMLS:C4072969 hp.json http://purl.obolibrary.org/obo/HP_0030479 HP:0005469 biolink:PhenotypicFeature Flat occiput Reduced convexity of the occiput (posterior part of skull). UMLS:C1837402|UMLS:C4280482 hp.json Posterior flattening of the skull|Flat posterior head|Flat back of the skull|Flat back of the head|Flat back of skull|Flat posterior cranium http://purl.obolibrary.org/obo/HP_0005469 hposlim_core HP:0005462 biolink:PhenotypicFeature Calcification of falx cerebri The presence of calcium deposition in the falx cerebri. UMLS:C1397139 hp.json http://purl.obolibrary.org/obo/HP_0005462 HP:0005463 biolink:PhenotypicFeature Elongated sella turcica UMLS:C1863311 hp.json http://purl.obolibrary.org/obo/HP_0005463 HP:0005464 biolink:PhenotypicFeature Craniofacial osteosclerosis Abnormally increased density of craniofacial bone tissue. UMLS:C1845805|UMLS:C4025193 hp.json Cranial sclerosis http://purl.obolibrary.org/obo/HP_0005464 HP:0005465 biolink:PhenotypicFeature Facial hyperostosis Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. UMLS:C1857501|UMLS:C4280487|UMLS:C4280486|UMLS:C4280485 hp.json Enlargement of facial bones|Hyperostosis of facial bones|Increased ossification of facial skeleton|Hyperostosis of facial skeleton|Excessive growth of facial bones|Hypertrophy of facial bones|Enlargment of the facial bones|Excessive growth of facial skeleton|Hypertrophy of facial skeleton|Increase in size of the facial bones|Hypertrophy of the facial bones|Overgrowth of facial bones|Overgrowth of the facial bones|Increased ossification of facial bones|Enlargement of facial skeleton|Overgrowth of facial skeleton http://purl.obolibrary.org/obo/HP_0005465 hposlim_core GO:0033343 biolink:BiologicalProcess positive regulation of collagen binding Any process that activates or increases the frequency, rate or extent of collagen binding. hp.json activation of collagen binding|upregulation of collagen binding|up regulation of collagen binding|stimulation of collagen binding|up-regulation of collagen binding http://purl.obolibrary.org/obo/GO_0033343 GO:0033342 biolink:BiologicalProcess negative regulation of collagen binding Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding. hp.json down regulation of collagen binding|inhibition of collagen binding|down-regulation of collagen binding|downregulation of collagen binding http://purl.obolibrary.org/obo/GO_0033342 GO:0033341 biolink:BiologicalProcess regulation of collagen binding Any process that modulates the frequency, rate or extent of collagen binding. hp.json http://purl.obolibrary.org/obo/GO_0033341 HP:0005461 biolink:PhenotypicFeature Craniofacial disproportion UMLS:C1867114 hp.json http://purl.obolibrary.org/obo/HP_0005461 HP:0030484 biolink:PhenotypicFeature Supernormal dark-adapted bright flash electroretinogram b-wave UMLS:C4072974 hp.json http://purl.obolibrary.org/obo/HP_0030484 HP:0030485 biolink:PhenotypicFeature Abnormal amplitude of pattern electroretinogram UMLS:C4072975 hp.json http://purl.obolibrary.org/obo/HP_0030485 HP:0030486 biolink:PhenotypicFeature Abnormal timing of pattern electroretinogram UMLS:C4072976 hp.json http://purl.obolibrary.org/obo/HP_0030486 HP:0030487 biolink:PhenotypicFeature Abnormal P50/N95 ratio of pattern electroretinogram UMLS:C4072977 hp.json http://purl.obolibrary.org/obo/HP_0030487 HP:0030480 biolink:PhenotypicFeature Abnormal timing of light-adapted flicker electroretinogram UMLS:C4072970 hp.json http://purl.obolibrary.org/obo/HP_0030480 HP:0030481 biolink:PhenotypicFeature Abnormal amplitude of light-adapted single flash electroretinogram UMLS:C4072971 hp.json http://purl.obolibrary.org/obo/HP_0030481 HP:0030482 biolink:PhenotypicFeature Abnormal timing of light-adapted single flash electroretinogram UMLS:C4072972 hp.json http://purl.obolibrary.org/obo/HP_0030482 HP:0030483 biolink:PhenotypicFeature Reduced amplitude of dark-adapted bright flash electroretinogram a-wave An abnormal reduction in the amplitude of the a-wave. UMLS:C4072973 hp.json http://purl.obolibrary.org/obo/HP_0030483 GO:0035992 biolink:BiologicalProcess tendon formation The process that gives rise to a tendon. This process pertains to the initial formation of a tendon from unspecified parts. hp.json http://purl.obolibrary.org/obo/GO_0035992 HP:0030488 biolink:PhenotypicFeature Abnormal central response of multifocal electroretinogram UMLS:C4072978 hp.json http://purl.obolibrary.org/obo/HP_0030488 HP:0005477 biolink:PhenotypicFeature Progressive sclerosis of skull base Progressively increasing bone density of the skull base without significant changes in bony contour. UMLS:C1835470 hp.json http://purl.obolibrary.org/obo/HP_0005477 HP:0005478 biolink:PhenotypicFeature Prominent frontal sinuses UMLS:C4280481|UMLS:C4280480|UMLS:C4280479|UMLS:C1969404|UMLS:C4280265 hp.json Large frontal sinus|Increased volume of frontal sinus|Hypertrophy of frontal sinus|Increased size of frontal sinus|Hyperplasia of frontal sinus http://purl.obolibrary.org/obo/HP_0005478 HP:0030489 biolink:PhenotypicFeature Abnormal paracentral response of multifocal electroretinogram UMLS:C4072979 hp.json http://purl.obolibrary.org/obo/HP_0030489 HP:0005479 biolink:PhenotypicFeature Decreased circulating IgE An abnormally decreased level of immunoglobulin E (IgE) in blood. UMLS:C0860904 hp.json IgE deficiency|Decreased IgE http://purl.obolibrary.org/obo/HP_0005479 HGNC:6081 biolink:Gene INS (human) A protein coding gene INS in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6081 HP:0005473 biolink:PhenotypicFeature Fusion of middle ear ossicles Bony fusion of malleus, incus, and stapes. UMLS:C1862068 hp.json http://purl.obolibrary.org/obo/HP_0005473 HP:0005474 biolink:PhenotypicFeature Decreased calvarial ossification Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). UMLS:C1833762 hp.json Skull soft on palpation|Undermineralized calvarium|Soft calvaria|Poorly ossified calvarium|Poorly ossified calvaria|Soft skullcap http://purl.obolibrary.org/obo/HP_0005474 HP:0005476 biolink:PhenotypicFeature Widely patent sagittal suture The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. UMLS:C1856779 hp.json http://purl.obolibrary.org/obo/HP_0005476 HP:0005472 biolink:PhenotypicFeature Orbital craniosynostosis UMLS:C4025192 hp.json http://purl.obolibrary.org/obo/HP_0005472 OBO:MAXO_0000141 biolink:NamedThing pap smear examination A biospecimen collection and staining procedure in which secretions and superficial cells of the cervix are collected and stained with the Papanicolaou stain followed by microscopic examination to identify the presence of abnormal cells. hp.json cervical cancer screening|cervical smear procedure|Papanicolaou smear procedure|pap testing http://purl.obolibrary.org/obo/MAXO_0000141 OBO:MAXO_0000142 biolink:NamedThing sputum cytology examination A diagnostic technique for lung cancer detection. Looks for abnormal cell cytology in sputum. NCIT:C16192 hp.json sputum cytology testing|sputum smear examination|sputum smear testing http://purl.obolibrary.org/obo/MAXO_0000142 OBO:MAXO_0000140 biolink:NamedThing clinical cytological testing A procedure to examine and define cellular anatomy or function. The test results are often used by a clinician to diagnose disease or disordered function. NCIT:C49132 hp.json clinical cytological procedure|diagnostic cytological procedure http://purl.obolibrary.org/obo/MAXO_0000140 OBO:MAXO_0000146 biolink:NamedThing clinical cell count A procedure to determine the number of cells in a clinical sample. NCIT:C48938 hp.json clinical pathology cell count|cell count http://purl.obolibrary.org/obo/MAXO_0000146 OBO:MAXO_0000143 biolink:NamedThing urine cytology examination Examination of the cells in urine. hp.json urine cytology testing http://purl.obolibrary.org/obo/MAXO_0000143 OBO:MAXO_0000144 biolink:NamedThing histological procedure Technique or procedure used for the study of the microanatomy of tissues and their cellular structure; usually involves microscopic examination of tissue slices. NCIT:C16680 hp.json histological testing http://purl.obolibrary.org/obo/MAXO_0000144 GO:0035989 biolink:BiologicalProcess tendon development The process whose specific outcome is the progression of a tendon over time, from its formation to the mature structure. A tendon is a fibrous, strong, connective tissue that connects muscle to bone or integument and is capable of withstanding tension. Tendons and muscles work together to exert a pulling force. hp.json sinew development http://purl.obolibrary.org/obo/GO_0035989 GO:0008366 biolink:BiologicalProcess axon ensheathment Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal. hp.json nerve ensheathment|cellular nerve ensheathment|cellular axon ensheathment http://purl.obolibrary.org/obo/GO_0008366 HP:0030410 biolink:PhenotypicFeature Sebaceous gland carcinoma A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) MSH:D018266|SNOMEDCT_US:54734006|UMLS:C0206684|SNOMEDCT_US:307599002 hp.json Sebaceous carcinoma http://purl.obolibrary.org/obo/HP_0030410 HP:0030415 biolink:PhenotypicFeature Sarcomatoid carcinoma of the tongue Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. UMLS:C2018408 hp.json Spindle cell carcinoma of the tongue http://purl.obolibrary.org/obo/HP_0030415 GO:0035981 biolink:BiologicalProcess tongue muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a tongue muscle cell. hp.json http://purl.obolibrary.org/obo/GO_0035981 HP:0030416 biolink:PhenotypicFeature Vulvar neoplasm A tumor (abnormal growth of tissue) of the female external genital tract (vulva). UMLS:C0042995|SNOMEDCT_US:126922007|NCIT:C3262|MSH:D014846 hp.json Tumour of the vulva|Neoplasm of the vulva|Tumor of the vulva http://purl.obolibrary.org/obo/HP_0030416 HP:0030417 biolink:PhenotypicFeature Squamous cell carcinoma of the vulva A cancer that originates in the squamous cells that line the surface of the vulva. SNOMEDCT_US:254895003|UMLS:C0280856 hp.json Vulval squamous cell carcinoma http://purl.obolibrary.org/obo/HP_0030417 HP:0030418 biolink:PhenotypicFeature Vulvar melanoma A type of vulvar cancer that originates from melanocytes of the vulva. SNOMEDCT_US:254896002|UMLS:C0241989 hp.json http://purl.obolibrary.org/obo/HP_0030418 HP:0030411 biolink:PhenotypicFeature Jejunal adenocarcinoma A malignant epithelial tumor with a glandular organization that originates in the jejunum. UMLS:C4072935|NCIT:C2852 hp.json http://purl.obolibrary.org/obo/HP_0030411 HP:0030412 biolink:PhenotypicFeature Ileal adenocarcinoma A malignant epithelial tumor with a glandular organization that originates in the ileum. UMLS:C4072936|NCIT:C2852 hp.json http://purl.obolibrary.org/obo/HP_0030412 HP:0030413 biolink:PhenotypicFeature Squamous cell carcinoma of the tongue A carcinoma derived from a squamous epithelial cell of the tongue. SNOMEDCT_US:276952000|UMLS:C0349566 hp.json http://purl.obolibrary.org/obo/HP_0030413 HP:0030414 biolink:PhenotypicFeature Verrucous cell carcinoma of the tongue A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance. UMLS:C4072937 hp.json http://purl.obolibrary.org/obo/HP_0030414 GO:0035987 biolink:BiologicalProcess endodermal cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. hp.json endoderm cell differentiation http://purl.obolibrary.org/obo/GO_0035987 OBO:MAXO_0000149 biolink:NamedThing hematocrit assessment A measure of the volume of red blood cells expressed as a percentage of the total blood volume. Normal in males is 43-49%, in females 37-43%. NCIT:C64796 hp.json HCT|hematocrit testing|hematocrit measurement|EVF testing|packed cell volume measurement|erythrocyte volume fraction testing|PCV measurement http://purl.obolibrary.org/obo/MAXO_0000149 OBO:MAXO_0000147 biolink:NamedThing hematology testing A procedure to measure hematopoietic components and investigate hematologic disorders in a blood sample. NCIT:C49286 hp.json hematology procedure|blood testing http://purl.obolibrary.org/obo/MAXO_0000147 OBO:MAXO_0000148 biolink:NamedThing oxygen capacity assessment The determination of the maximum amount of oxygen that can be combined chemically with hemoglobin in a volume of blood. NCIT:C96614 hp.json oxygen capacity measurement|OXYCAP testing|oxygen capacity testing http://purl.obolibrary.org/obo/MAXO_0000148 HP:0030419 biolink:PhenotypicFeature Bartholin gland carcinoma A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina. UMLS:C0349561|SNOMEDCT_US:399533005|SNOMEDCT_US:276876007 hp.json http://purl.obolibrary.org/obo/HP_0030419 HP:0030420 biolink:PhenotypicFeature Vulvar adenocarcinoma An adenocarcinoma arising in the vulva. UMLS:C1336975 hp.json http://purl.obolibrary.org/obo/HP_0030420 HP:0030421 biolink:PhenotypicFeature Epididymal neoplasm A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens. SNOMEDCT_US:126902008|UMLS:C0346239|NCIT:C3262 hp.json http://purl.obolibrary.org/obo/HP_0030421 GO:0008374 biolink:MolecularActivity O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. Reactome:R-HSA-1482781|Reactome:R-HSA-162683|Reactome:R-HSA-422104|Reactome:R-HSA-422017|Reactome:R-HSA-1482861|Reactome:R-HSA-1482867|Reactome:R-HSA-5358343|Reactome:R-HSA-1482775|Reactome:R-HSA-5483229|Reactome:R-HSA-1482850|Reactome:R-HSA-3238694 hp.json http://purl.obolibrary.org/obo/GO_0008374 HP:0030426 biolink:PhenotypicFeature Ossifying fibroma A benign central bone tumor composed of fibrous connective tissue within which bone is formed. SNOMEDCT_US:302862001|MSH:D018214|SNOMEDCT_US:25603007|UMLS:C0206640|SNOMEDCT_US:80699009|SNOMEDCT_US:302863006 hp.json http://purl.obolibrary.org/obo/HP_0030426 HP:0030427 biolink:PhenotypicFeature Ossifying fibroma of the jaw A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed. UMLS:C4072940 hp.json http://purl.obolibrary.org/obo/HP_0030427 HP:0030428 biolink:PhenotypicFeature Cutaneous myxoma A myxoma originating in the skin. UMLS:C1333178|NCIT:C6577 hp.json http://purl.obolibrary.org/obo/HP_0030428 HP:0030429 biolink:PhenotypicFeature Juvenile nasopharyngeal angiofibroma A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity. SNOMEDCT_US:716590006|UMLS:C1367536|SNOMEDCT_US:60392001 hp.json http://purl.obolibrary.org/obo/HP_0030429 HP:0030422 biolink:PhenotypicFeature obsolete Papillary cystadenoma of the epididymis hp.json http://purl.obolibrary.org/obo/HP_0030422 HP:0030423 biolink:PhenotypicFeature Splenic cyst A closed sac located in the spleen. UMLS:C0272407|SNOMEDCT_US:79040006 hp.json Cyst on spleen http://purl.obolibrary.org/obo/HP_0030423 HP:0030424 biolink:PhenotypicFeature Epididymal cyst A smooth, extratesticular, spherical cyst in the head of the epididymis. SNOMEDCT_US:49263001|MSH:D013088|SNOMEDCT_US:43077002|UMLS:C0037859 hp.json Epididymal cysts http://purl.obolibrary.org/obo/HP_0030424 HP:0030425 biolink:PhenotypicFeature Calcified ovarian cyst A cyst of the ovary that exhibits deposition of calcium salts. UMLS:C4072939 hp.json http://purl.obolibrary.org/obo/HP_0030425 OBO:MAXO_0000138 biolink:NamedThing contrast-enhanced ultrasound procedure Ultrasound imaging following the administration of a microbubble contrast agent. NCIT:C148281 hp.json CEUS http://purl.obolibrary.org/obo/MAXO_0000138 OBO:MAXO_0000137 biolink:NamedThing positron emission tomography procedure A technique for measuring the gamma radiation produced by collisions of electrons and positrons (anti-electrons) within living tissue. In positron emission tomography (PET), a subject is given a dose of a positron-emitting radionuclide attached to a metabolically active substance (for example, 2-fluoro-2-deoxy-D-glucose (FDG), which is similar to a naturally occurring sugar, glucose, with the addition of a radioactive fluorine atom). When living tissue containing the positron emitter is bombarded by electrons, gamma radiation produced by collisions of electrons and positrons is detected by a scanner, revealing in fine detail the tissue location of the metabolically-active substance administered. NCIT:C17007 hp.json PET scan http://purl.obolibrary.org/obo/MAXO_0000137 GO:0008348 biolink:BiologicalProcess negative regulation of antimicrobial humoral response Any process that stops, prevents, or reduces the frequency, rate, or extent of an antimicrobial humoral response. hp.json attenuation of antimicrobial humoral response|down regulation of antimicrobial humoral response|inhibition of antimicrobial humoral response|down-regulation of antimicrobial humoral response|downregulation of antimicrobial humoral response http://purl.obolibrary.org/obo/GO_0008348 GO:0008347 biolink:BiologicalProcess glial cell migration The orderly movement of a glial cell, non-neuronal cells that provide support and nutrition, maintain homeostasis, form myelin, and participate in signal transmission in the nervous system. hp.json glia cell migration http://purl.obolibrary.org/obo/GO_0008347 HP:0030430 biolink:PhenotypicFeature Neuroma A tumor made up of nerve cells and nerve fibers. SNOMEDCT_US:274089002|UMLS:C0273482|SNOMEDCT_US:84116009|MSH:D009463|SNOMEDCT_US:443892003|SNOMEDCT_US:25169009|UMLS:C0027858 hp.json Nerve tumour|Nerve tumor|Pinched nerve http://purl.obolibrary.org/obo/HP_0030430 HP:0030431 biolink:PhenotypicFeature Osteochondroma A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. SNOMEDCT_US:443093007|UMLS:C0029423|SNOMEDCT_US:52299001|MSH:D015831|SNOMEDCT_US:307573009 hp.json Osteochondromas|Osteocartilaginous exostoses http://purl.obolibrary.org/obo/HP_0030431 HP:0030432 biolink:PhenotypicFeature Chondroblastoma A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. MSH:D002804|SNOMEDCT_US:9001003|UMLS:C0008441 hp.json http://purl.obolibrary.org/obo/HP_0030432 HP:0030437 biolink:PhenotypicFeature Anal canal neoplasm UMLS:C0345883|NCIT:C3262|SNOMEDCT_US:126850006 hp.json Anal canal tumour|Anal canal tumor http://purl.obolibrary.org/obo/HP_0030437 HP:0030438 biolink:PhenotypicFeature Anal canal squamous cell carcinoma A squamous cell carcinoma that originates in the anal canal. UMLS:C1332262 hp.json http://purl.obolibrary.org/obo/HP_0030438 HP:0030439 biolink:PhenotypicFeature Anal canal adenocarcinoma An adenoma carcinoma that originates in the anal canal. UMLS:C1332259|NCIT:C2852 hp.json http://purl.obolibrary.org/obo/HP_0030439 HP:0030433 biolink:PhenotypicFeature Osteoid osteoma A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone. SNOMEDCT_US:302859004|MSH:D010017|UMLS:C0029441|SNOMEDCT_US:71666005 hp.json http://purl.obolibrary.org/obo/HP_0030433 HP:0030434 biolink:PhenotypicFeature Pilomatrixoma Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. UMLS:C0206711|MSH:D018296|SNOMEDCT_US:274901004|SNOMEDCT_US:44155009 hp.json http://purl.obolibrary.org/obo/HP_0030434 HP:0030436 biolink:PhenotypicFeature Fibrofolliculoma Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. SNOMEDCT_US:254699007|SNOMEDCT_US:128683008|UMLS:C0346011 hp.json Fibrofolliculomas http://purl.obolibrary.org/obo/HP_0030436 HP:0030440 biolink:PhenotypicFeature Anal margin neoplasm A tumor of the anal margin. UMLS:C2064234 hp.json http://purl.obolibrary.org/obo/HP_0030440 HP:0030441 biolink:PhenotypicFeature Anal margin Paget's disease An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells. UMLS:C1332270 hp.json http://purl.obolibrary.org/obo/HP_0030441 HP:0030442 biolink:PhenotypicFeature Anal margin squamous cell carcinoma A squamous cell carcinoma that originates in the skin of the anal margin. UMLS:C1412037|SNOMEDCT_US:255084004 hp.json http://purl.obolibrary.org/obo/HP_0030442 GO:0008356 biolink:BiologicalProcess asymmetric cell division The asymmetric division of cells to produce two daughter cells with different developmental potentials. It is of fundamental significance for the generation of cell diversity. Wikipedia:Asymmetric_cell_division hp.json asymmetrical cell division|asymmetric cytokinesis|asymmetrical cytokinesis http://purl.obolibrary.org/obo/GO_0008356 HP:0030443 biolink:PhenotypicFeature Anal margin basal cell carcinoma A basal cell carcinoma that originates in the anal margin. UMLS:C1332269 hp.json http://purl.obolibrary.org/obo/HP_0030443 GO:0008354 biolink:BiologicalProcess germ cell migration The orderly movement of a cell specialized to produce haploid gametes through the embryo from its site of production to the place where the gonads will form. hp.json primordial germ cell migration|germ-cell migration http://purl.obolibrary.org/obo/GO_0008354 HP:0030448 biolink:PhenotypicFeature Soft tissue sarcoma A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. UMLS:C1261473|SNOMEDCT_US:424413001|SNOMEDCT_US:2424003|MSH:D012509|SNOMEDCT_US:269469005|SNOMEDCT_US:424952003 hp.json Soft tissue sarcomas http://purl.obolibrary.org/obo/HP_0030448 CHEBI:83563 biolink:ChemicalSubstance long-chain alkane Any alkane having a chain length of at least 13 carbon atoms. hp.json a long-chain alkane http://purl.obolibrary.org/obo/CHEBI_83563 3_STAR HP:0030449 biolink:PhenotypicFeature Therapeutic abortion Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice. MSH:D000032|SNOMEDCT_US:386641000|UMLS:C0000820 hp.json http://purl.obolibrary.org/obo/HP_0030449 HP:0030444 biolink:PhenotypicFeature Anal margin melanoma A melanoma that originates in the anal margin. UMLS:C4072941 hp.json http://purl.obolibrary.org/obo/HP_0030444 HP:0030445 biolink:PhenotypicFeature Pulmonary carcinoid tumor A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. SNOMEDCT_US:254627002|UMLS:C0280089 hp.json Lung carcinoid tumour|Pulmonary carcinoid tumour|Lung carcinoid tumor http://purl.obolibrary.org/obo/HP_0030445 HP:0030446 biolink:PhenotypicFeature Atypical pulmonary carcinoid tumor UMLS:C4072942 hp.json Atypical pulmonary carcinoid tumour http://purl.obolibrary.org/obo/HP_0030446 HP:0030447 biolink:PhenotypicFeature Merkel cell skin cancer A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features. SNOMEDCT_US:5052009|MSH:D015266|UMLS:C0007129|SNOMEDCT_US:254729005|SNOMEDCT_US:253001006 hp.json Primary small cell carcinoma of the skin|Primary undifferentiated carcinoma of the skin|Cutaneous APUDoma|Merkel cell cancer of the skin|Neuroendocrine carcinoma of the skin|Neuroendocrine tumor of the skin|Neuroendocrine tumour of the skin|Anaplastic carcinoma of the skin http://purl.obolibrary.org/obo/HP_0030447 HP:0005409 biolink:PhenotypicFeature obsolete Markedly reduced T cell function hp.json http://purl.obolibrary.org/obo/HP_0005409 HP:0005404 biolink:PhenotypicFeature Increased B cell count An abnormal increase from the normal count of B cells. UMLS:C1858972 hp.json Increase in B cell number|Increase in B cell count|Increased number of B cells http://purl.obolibrary.org/obo/HP_0005404 HP:0005406 biolink:PhenotypicFeature Recurrent bacterial skin infections Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. UMLS:C1835686 hp.json Recurrent episodes of infectious dermatitis|Recurrent cutaneous pyogenic infections|Recurrent bacterial skin infections|Recurrent episodes of impetigo|Recurrent pyogenic skin infections http://purl.obolibrary.org/obo/HP_0005406 HP:0005407 biolink:PhenotypicFeature Decreased proportion of CD4-positive helper T cells A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count. UMLS:C1839304 hp.json CD4+ T-cell lymphopenia|Abnormality of CD4+ T cells|CD4 T cell lymphopenia http://purl.obolibrary.org/obo/HP_0005407 HP:0005400 biolink:PhenotypicFeature Reduction of neutrophil motility An abnormal reduction of the cell motility of neutrophils. UMLS:C4025201 hp.json http://purl.obolibrary.org/obo/HP_0005400 HP:0005401 biolink:PhenotypicFeature Recurrent candida infections An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. UMLS:C1860128 hp.json Frequent candida infections http://purl.obolibrary.org/obo/HP_0005401 HP:0005402 biolink:PhenotypicFeature obsolete Primary T-lymphocyte immune abnormalities hp.json http://purl.obolibrary.org/obo/HP_0005402 HP:0005403 biolink:PhenotypicFeature T lymphocytopenia An abnormally low count of T cells. UMLS:C2931322|MSH:C536783 hp.json Decreased numbers of circulating T cells|Reduced number of T cells|Decrease in T cell count|Decrease in T cell number|Low T cell count http://purl.obolibrary.org/obo/HP_0005403 CHEBI:22506 biolink:ChemicalSubstance aminoglycan hp.json aminoglycans http://purl.obolibrary.org/obo/CHEBI_22506 3_STAR HP:0005419 biolink:PhenotypicFeature Decreased T cell activation Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. UMLS:C1846550 hp.json Defective T cell activation|Profound depletion of T4+ lymphocytes|Decreased T-lymphocyte activation|Decreased T lymphocyte activation|Decreased T-cell activation http://purl.obolibrary.org/obo/HP_0005419 HP:0005415 biolink:PhenotypicFeature Decreased proportion of CD8-positive T cells A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells. UMLS:C1839305 hp.json Decreased proportion of CD8+ T cells|Decreased proportion of CD8-positive, alpha-beta T cells|CD8+ T-cell lymphopenia http://purl.obolibrary.org/obo/HP_0005415 HP:0005416 biolink:PhenotypicFeature Decreased serum complement factor B A reduced level of the complement component factor B in circulation. UMLS:C4021636 hp.json Decreased serum factor b http://purl.obolibrary.org/obo/HP_0005416 HP:0005411 biolink:PhenotypicFeature Chronic intestinal candidiasis Persistent overgrowth of Candida albicans in the gastrointestinal tract. UMLS:C4025199|UMLS:C4020823 hp.json Candida overgrowth syndrome http://purl.obolibrary.org/obo/HP_0005411 HP:0005413 biolink:PhenotypicFeature Increased alpha-globulin An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant. UMLS:C1167806|SNOMEDCT_US:124022007 hp.json http://purl.obolibrary.org/obo/HP_0005413 GO:0070295 biolink:NamedThing renal water absorption hp.json http://purl.obolibrary.org/obo/GO_0070295 GO:0070293 biolink:BiologicalProcess renal absorption A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). hp.json renal reabsorption|nephron absorption http://purl.obolibrary.org/obo/GO_0070293 NCBITaxon:33511 biolink:OrganismalEntity Deuterostomia GC_ID:1 hp.json deuterostomes http://purl.obolibrary.org/obo/NCBITaxon_33511 GO:0070285 biolink:BiologicalProcess pigment cell development The process whose specific outcome is the progression of a pigment cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a pigment cell fate. hp.json http://purl.obolibrary.org/obo/GO_0070285 HP:0030404 biolink:PhenotypicFeature Glucagonoma An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. MSH:D005935|SNOMEDCT_US:128855009|SNOMEDCT_US:302823005|UMLS:C0017689|SNOMEDCT_US:16424000 hp.json http://purl.obolibrary.org/obo/HP_0030404 HP:0030405 biolink:PhenotypicFeature Pancreatic endocrine tumor A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. SNOMEDCT_US:126864006|MSH:D007516|SNOMEDCT_US:128878003|SNOMEDCT_US:76345009|SNOMEDCT_US:399528006|UMLS:C0242363|SNOMEDCT_US:237596009 hp.json Pancreatic endocrine tumour http://purl.obolibrary.org/obo/HP_0030405 GO:0033293 biolink:MolecularActivity monocarboxylic acid binding Binding to a monocarboxylic acid, any organic acid containing one carboxyl (COOH) group or anion (COO-). hp.json http://purl.obolibrary.org/obo/GO_0033293 HP:0030406 biolink:PhenotypicFeature Primary peritoneal carcinoma A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum. UMLS:C1514428 hp.json http://purl.obolibrary.org/obo/HP_0030406 HP:0030407 biolink:PhenotypicFeature Pineocytoma A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I). SNOMEDCT_US:89096009|MSH:D010871|NCIT:C6966|UMLS:C0917890|SNOMEDCT_US:255045009 hp.json http://purl.obolibrary.org/obo/HP_0030407 HP:0030400 biolink:PhenotypicFeature Abnormal platelet lysosome secretion Abnormal release of lysosome contents from platelets. UMLS:C4072933 hp.json http://purl.obolibrary.org/obo/HP_0030400 HP:0030401 biolink:PhenotypicFeature Abnormal platelet dense granule ATP/ADP ratio Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets. UMLS:C4072934 hp.json http://purl.obolibrary.org/obo/HP_0030401 HP:0030402 biolink:PhenotypicFeature Abnormal platelet aggregation An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. UMLS:C0541767 hp.json http://purl.obolibrary.org/obo/HP_0030402 HP:0030403 biolink:PhenotypicFeature Spontaneous platelet aggregation Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation. MSH:C566800|UMLS:C1868263 hp.json http://purl.obolibrary.org/obo/HP_0030403 HP:0030408 biolink:PhenotypicFeature Pineoblastoma Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells. MSH:D010871|SNOMEDCT_US:31671006|UMLS:C0205898 hp.json Pinealoblastoma http://purl.obolibrary.org/obo/HP_0030408 GO:0070288 biolink:CellularComponent ferritin complex A protein complex that binds iron and acts as a major iron storage system. Intracellular and extracellular ferritin complexes have different ratios of two types of ferritin monomer, the L (light) chain and H (heavy) chain. hp.json http://purl.obolibrary.org/obo/GO_0070288 HP:0030409 biolink:PhenotypicFeature Renal transitional cell carcinoma A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. UMLS:C1319314|SNOMEDCT_US:408642003 hp.json Renal urothelial carcinoma|renal TCC|Transitional renal cell carcinoma http://purl.obolibrary.org/obo/HP_0030409 HP:0005449 biolink:PhenotypicFeature Bridged sella turcica UMLS:C1866959|MSH:C566689 hp.json http://purl.obolibrary.org/obo/HP_0005449 HP:0005445 biolink:PhenotypicFeature Enlarged posterior fossa Abnormal increased size of the posterior cranial fossa. UMLS:C1855889 hp.json Widened posterior fossa http://purl.obolibrary.org/obo/HP_0005445 HP:0005446 biolink:PhenotypicFeature Obtuse angle of mandible Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. UMLS:C4038738|SNOMEDCT_US:709997007 hp.json Steep mandibular plane angle|High mandibular plane angle http://purl.obolibrary.org/obo/HP_0005446 HP:0005441 biolink:PhenotypicFeature Sclerotic cranial sutures An increased density in the cranial sutures following obliteration. UMLS:C4025195 hp.json http://purl.obolibrary.org/obo/HP_0005441 HP:0005442 biolink:PhenotypicFeature Widely patent coronal suture The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. UMLS:C1856778 hp.json http://purl.obolibrary.org/obo/HP_0005442 UBERON:3010200 biolink:AnatomicalEntity vasculature of respiratory integument Blood vessels in respiratory skin. hp.json http://purl.obolibrary.org/obo/UBERON_3010200 HP:0005456 biolink:PhenotypicFeature Absent ethmoidal sinuses Lack (aplasia) of the ethmoidal sinus. UMLS:C4025194 hp.json Agenesis of ethmoid sinuses|Failure of development of ethmoid sinuses|Missing ethmoid sinuses http://purl.obolibrary.org/obo/HP_0005456 MPATH:675 biolink:NamedThing psoriasiform dermatitis hp.json http://purl.obolibrary.org/obo/MPATH_675 HP:0005458 biolink:PhenotypicFeature Premature closure of fontanelles Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. SNOMEDCT_US:57219006|UMLS:C0277827|UMLS:C0010278|MSH:D003398|UMLS:C4072853|SNOMEDCT_US:1667003 hp.json Premature closure of the cranial sutures|Premature closure of the bregma sutures|Early closure of the cranial sutures|Early closure of the fontanelles|Obliterated fontanelles|Early closure of the bregma sutures http://purl.obolibrary.org/obo/HP_0005458 HP:0005451 biolink:PhenotypicFeature Decreased cranial base ossification UMLS:C1835442 hp.json http://purl.obolibrary.org/obo/HP_0005451 HP:0005453 biolink:PhenotypicFeature Absent/hypoplastic paranasal sinuses Aplasia or hypoplasia of the paranasal sinuses. UMLS:C1856639 hp.json http://purl.obolibrary.org/obo/HP_0005453 hposlim_core GO:0033278 biolink:BiologicalProcess cell proliferation in midbrain The multiplication or reproduction of cells, resulting in the expansion of a cell population in the midbrain. hp.json mesencepahalic cell proliferation|cell proliferation in mesencephalon http://purl.obolibrary.org/obo/GO_0033278 HP:0005450 biolink:PhenotypicFeature Calvarial osteosclerosis An increase in bone density affecting the calvaria (roof of the skull). UMLS:C1855657 hp.json http://purl.obolibrary.org/obo/HP_0005450 HP:0005428 biolink:PhenotypicFeature Severe recurrent varicella UMLS:C1833487|MSH:C563458 hp.json http://purl.obolibrary.org/obo/HP_0005428 HP:0005429 biolink:PhenotypicFeature Recurrent systemic pyogenic infections Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. UMLS:C4025196 hp.json http://purl.obolibrary.org/obo/HP_0005429 HP:0005422 biolink:PhenotypicFeature Absence of CD8-positive T cells Lack of detectible CD8-positive T cells UMLS:C4025197 hp.json Absence of CD8+ T cells http://purl.obolibrary.org/obo/HP_0005422 HP:0005423 biolink:PhenotypicFeature Dysfunctional alternative complement pathway An abnormality of the functioning of any aspect of the alternative complement pathway. UMLS:C1839458 hp.json http://purl.obolibrary.org/obo/HP_0005423 HP:0005424 biolink:PhenotypicFeature Absent specific antibody response Absence of specific immunoglobulins directed against a specific antigen or microorganism. UMLS:C1863246 hp.json http://purl.obolibrary.org/obo/HP_0005424 HP:0005425 biolink:PhenotypicFeature Recurrent sinopulmonary infections An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. UMLS:C1846546 hp.json Recurrent sinus and lung infections|Chronic sinopulmonary infection http://purl.obolibrary.org/obo/HP_0005425 HP:0005420 biolink:PhenotypicFeature Recurrent gram-negative bacterial infections Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. UMLS:C4025198 hp.json http://purl.obolibrary.org/obo/HP_0005420 HP:0005421 biolink:PhenotypicFeature Decreased serum complement C3 A reduced level of the complement component C3 in circulation. UMLS:C1837512 hp.json Decreased serum C3|Decreased serum complement C3 level http://purl.obolibrary.org/obo/HP_0005421 HP:0005437 biolink:PhenotypicFeature Recurrent infections in infancy and early childhood Recurrent infections at an early age with improvement in later childhood. UMLS:C1844909 hp.json http://purl.obolibrary.org/obo/HP_0005437 HP:0005439 biolink:PhenotypicFeature Maxillozygomatic hypoplasia Hypoplasia of the maxillozygomatic complex. UMLS:C4280488|UMLS:C1848908 hp.json Decreased size of zygomaticomaxillary bone complex|Deficiency of zygomaticomaxillary bone complex|Hypoplasia of malar bone complex|Decreased projection of zygomaticomaxillary bone complex|Underdevelopment of zygomaticomaxillary bone complex|Hypoplasia of zygomaticomaxillary complex http://purl.obolibrary.org/obo/HP_0005439 HP:0005435 biolink:PhenotypicFeature Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. UMLS:C1860127 hp.json T-cell dysfunction|Impaired T cell function http://purl.obolibrary.org/obo/HP_0005435 HP:0005430 biolink:PhenotypicFeature Recurrent Neisserial infections Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). UMLS:C3151083 hp.json Recurrent neisseria infections|Episodes of neisserial infection http://purl.obolibrary.org/obo/HP_0005430 HP:0005432 biolink:PhenotypicFeature Transient hypogammaglobulinemia of infancy At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia. UMLS:C4020822|SNOMEDCT_US:88714009|UMLS:C0272238 hp.json Newborn gammaglobulin deficiency http://purl.obolibrary.org/obo/HP_0005432 CHEBI:22586 biolink:ChemicalSubstance antioxidant A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides. hp.json antoxidant|antioxidants|antioxydant http://purl.obolibrary.org/obo/CHEBI_22586 3_STAR CHEBI:22587 biolink:ChemicalSubstance antiviral agent A substance that destroys or inhibits replication of viruses. hp.json antivirals|antiviral|antiviral agents|anti-viral agent|anti-viral agents http://purl.obolibrary.org/obo/CHEBI_22587 3_STAR GO:1901963 biolink:BiologicalProcess regulation of cell proliferation involved in outflow tract morphogenesis Any process that modulates the frequency, rate or extent of cell proliferation involved in outflow tract morphogenesis. hp.json http://purl.obolibrary.org/obo/GO_1901963 GO:1901964 biolink:BiologicalProcess positive regulation of cell proliferation involved in outflow tract morphogenesis Any process that activates or increases the frequency, rate or extent of cell proliferation involved in outflow tract morphogenesis. hp.json upregulation of cell proliferation involved in outflow tract morphogenesis|up regulation of cell proliferation involved in outflow tract morphogenesis|up-regulation of cell proliferation involved in outflow tract morphogenesis|activation of cell proliferation involved in outflow tract morphogenesis http://purl.obolibrary.org/obo/GO_1901964 UBERON:0003571 biolink:AnatomicalEntity trachea connective tissue A portion of connective tissue that is part of a trachea. EMAPA:35876|MA:0001853 hp.json connective tissue of windpipe|connective tissue of trachea http://purl.obolibrary.org/obo/UBERON_0003571 UBERON:0003572 biolink:AnatomicalEntity chest connective tissue A portion of connective tissue that is part of a chest [Automatically generated definition]. EMAPA:37254|MA:0000550 hp.json portion of connective tissue of anterior thoracic region|anterolateral part of thorax portion of connective tissue|connective tissue of anterior thoracic region|textus connectivus of chest|textus connectivus of anterolateral part of thorax|front of thorax connective tissue|anterior thoracic region textus connectivus|front of thorax portion of connective tissue|textus connectivus of front of thorax|chest portion of connective tissue|anterolateral part of thorax connective tissue|anterolateral part of thorax textus connectivus|textus connectivus of anterior thoracic region|portion of connective tissue of chest|connective tissue of chest|connective tissue of front of thorax|anterior thoracic region connective tissue|front of thorax textus connectivus|portion of connective tissue of front of thorax|chest textus connectivus|connective tissue of anterolateral part of thorax|anterior thoracic region portion of connective tissue|portion of connective tissue of anterolateral part of thorax http://purl.obolibrary.org/obo/UBERON_0003572 UBERON:0003570 biolink:AnatomicalEntity respiratory system connective tissue A portion of connective tissue that is part of a respiratory system [Automatically generated definition]. EMAPA:35968|EMAPA:35977|MA:0001814 hp.json connective tissue of respiratory system|portion of connective tissue of respiratory system|apparatus respiratorius textus connectivus|respiratory system portion of connective tissue|apparatus respiratorius connective tissue|textus connectivus of apparatus respiratorius|textus connectivus of respiratory system|apparatus respiratorius portion of connective tissue|respiratory system textus connectivus|connective tissue of apparatus respiratorius|portion of connective tissue of apparatus respiratorius http://purl.obolibrary.org/obo/UBERON_0003570 UBERON:0003579 biolink:AnatomicalEntity shoulder connective tissue A portion of connective tissue that is part of a shoulder [Automatically generated definition]. EMAPA:37315|MA:0000632 hp.json textus connectivus of shoulder|shoulder portion of connective tissue|portion of connective tissue of shoulder|shoulder textus connectivus|connective tissue of shoulder http://purl.obolibrary.org/obo/UBERON_0003579 UBERON:0003577 biolink:AnatomicalEntity knee connective tissue A portion of connective tissue that is part of a knee [Automatically generated definition]. EMAPA:37326|MA:0000667 hp.json knee portion of connective tissue|connective tissue of knee http://purl.obolibrary.org/obo/UBERON_0003577 UBERON:0003578 biolink:AnatomicalEntity pedal digit connective tissue A portion of connective tissue that is part of a toe [Automatically generated definition]. MA:0000647|EMAPA:37330 hp.json digitus pedis textus connectivus|connective tissue of foot digit|connective tissue of toe|connective tissue of digitus pedis|connective tissue of digit of foot|foot digit connective tissue|hind limb digit connective tissue|foot digit connective tissue http://purl.obolibrary.org/obo/UBERON_0003578 UBERON:0003575 biolink:AnatomicalEntity wrist connective tissue A portion of connective tissue that is part of a wrist [Automatically generated definition]. EMAPA:37320|MA:0000636 hp.json carpal region connective tissue|connective tissue of wrist|connective tissue of carpal region http://purl.obolibrary.org/obo/UBERON_0003575 UBERON:0003576 biolink:AnatomicalEntity hip connective tissue A portion of connective tissue that is part of a hip [Automatically generated definition]. EMAPA:37323|MA:0000656 hp.json connective tissue of regio coxae|connective tissue of hip region|connective tissue of hip http://purl.obolibrary.org/obo/UBERON_0003576 UBERON:0003573 biolink:AnatomicalEntity arm connective tissue A portion of connective tissue that is part of an arm [Automatically generated definition]. MA:0000593|EMAPA:37316 hp.json http://purl.obolibrary.org/obo/UBERON_0003573 UBERON:0003574 biolink:AnatomicalEntity elbow connective tissue A portion of connective tissue that is part of a elbow [Automatically generated definition]. MA:0000609|EMAPA:37318 hp.json textus connectivus of cubital region|connective tissue of elbow|connective tissue of cubital region http://purl.obolibrary.org/obo/UBERON_0003574 UBERON:0003559 biolink:AnatomicalEntity hindbrain arachnoid mater An arachnoid mater that is part of a hindbrain [Automatically generated definition]. EMAPA:17784|VHOG:0000236|MA:0000988 hp.json hindbrain arachnoid|rhombencephalon arachnoid mater|hindbrain arachnoid mater of neuraxis|arachnoid mater of neuraxis of hindbrain|arachnoid mater of hindbrain|arachnoid of hindbrain http://purl.obolibrary.org/obo/UBERON_0003559 UBERON:0003560 biolink:AnatomicalEntity spinal cord arachnoid mater An arachnoid mater that is part of a spinal cord [Automatically generated definition]. MA:0001131|EMAPA:17805|VHOG:0000234 hp.json arachnoid mater of spinal cord|arachnoid of spinal cord|spinal cord arachnoid|spinal cord arachnoid mater of neuraxis|arachnoid mater of neuraxis of spinal cord http://purl.obolibrary.org/obo/UBERON_0003560 organ_slim UBERON:0003561 biolink:AnatomicalEntity forebrain dura mater A dura mater that is part of a forebrain. EMAPA:37545|EMAPA:17766|MA:0000885 hp.json dura mater of neuraxis of forebrain|dura mater of forebrain|forebrain dura mater of neuraxis http://purl.obolibrary.org/obo/UBERON_0003561 UBERON:0003568 biolink:AnatomicalEntity neck connective tissue A portion of connective tissue that is part of a neck [Automatically generated definition]. MA:0000585|EMAPA:37250 hp.json portion of connective tissue of neck|neck (volume) connective tissue|textus connectivus of neck (volume)|connective tissue of neck|neck (volume) portion of connective tissue|textus connectivus of neck|connective tissue of neck (volume)|neck portion of connective tissue|neck (volume) textus connectivus|portion of connective tissue of neck (volume)|neck textus connectivus http://purl.obolibrary.org/obo/UBERON_0003568 UBERON:0003569 biolink:AnatomicalEntity leg connective tissue A portion of connective tissue that is part of a leg [Automatically generated definition]. MA:0000671|EMAPA:37324 hp.json connective tissue of leg|portion of connective tissue of leg|leg portion of connective tissue|textus connectivus of leg|leg textus connectivus http://purl.obolibrary.org/obo/UBERON_0003569 UBERON:0003566 biolink:AnatomicalEntity head connective tissue A portion of connective tissue that is part of a head [Automatically generated definition]. EMAPA:16098|MA:0000577 hp.json adult head connective tissue|adult head textus connectivus|textus connectivus of head|head portion of connective tissue|connective tissue of adult head|portion of connective tissue of adult head|adult head portion of connective tissue|head textus connectivus|connective tissue of head|portion of connective tissue of head|textus connectivus of adult head http://purl.obolibrary.org/obo/UBERON_0003566 UBERON:0003567 biolink:AnatomicalEntity abdomen connective tissue A portion of connective tissue that is part of an abdomen [Automatically generated definition]. MA:0000519 hp.json abdomen portion of connective tissue|connective tissue of abdomen|portion of connective tissue of abdomen|abdomen textus connectivus|textus connectivus of abdomen http://purl.obolibrary.org/obo/UBERON_0003567 UBERON:0003564 biolink:AnatomicalEntity diencephalon dura mater A dura mater that is part of a diencephalon [Automatically generated definition]. MA:0000828|VHOG:0000258|EMAPA:17766 hp.json between brain dura mater of neuraxis|dura mater of neuraxis of between brain|diencephalon dura mater of neuraxis|dura mater of between brain|dura mater of diencephalon|dura mater of neuraxis of diencephalon|dura mater of neuraxis of mature diencephalon|dura mater of mature diencephalon|interbrain dura mater|mature diencephalon dura mater|mature diencephalon dura mater of neuraxis|interbrain dura mater of neuraxis|dura mater of interbrain|between brain dura mater|dura mater of neuraxis of interbrain http://purl.obolibrary.org/obo/UBERON_0003564 UBERON:0003565 biolink:AnatomicalEntity hindbrain dura mater A dura mater that is part of a hindbrain [Automatically generated definition]. VHOG:0000409|MA:0000989|EMAPA:17785 hp.json hindbrain dura mater of neuraxis|dura mater of neuraxis of hindbrain|dura mater of hindbrain|rhombencephalon dura mater http://purl.obolibrary.org/obo/UBERON_0003565 UBERON:0003562 biolink:AnatomicalEntity midbrain dura mater A dura mater that is part of a midbrain [Automatically generated definition]. EMAPA:17793|VHOG:0000410|MA:0001060 hp.json dura mater of midbrain|dura mater of neuraxis of midbrain|mesencephalon dura mater|midbrain dura mater of neuraxis http://purl.obolibrary.org/obo/UBERON_0003562 UBERON:0003563 biolink:AnatomicalEntity telencephalon dura mater A dura mater that is part of a telencephalon [Automatically generated definition]. MA:0000981|EMAPA:17776 hp.json dura mater of neuraxis of telencephalon|telencephalon dura mater of neuraxis|dura mater of telencephalon http://purl.obolibrary.org/obo/UBERON_0003563 CHEBI:22563 biolink:ChemicalSubstance anion A monoatomic or polyatomic species having one or more elementary charges of the electron. hp.json anion|aniones|anions|Anionen|Anion|anion http://purl.obolibrary.org/obo/CHEBI_22563 3_STAR HP:0500097 biolink:PhenotypicFeature Stool xenobiotic Presence of xenobiotic in stool. hp.json http://purl.obolibrary.org/obo/HP_0500097 HP:0500098 biolink:PhenotypicFeature Meconium xenobiotic Presence of a xenobiotic in meconium. hp.json http://purl.obolibrary.org/obo/HP_0500098 HP:0500095 biolink:PhenotypicFeature Food-induced anaphylaxis Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food. hp.json http://purl.obolibrary.org/obo/HP_0500095 HP:0500096 biolink:PhenotypicFeature Venom-induced anaphylaxis A form of anaphylaxis that is triggered by exposure to venom. hp.json http://purl.obolibrary.org/obo/HP_0500096 UBERON:0003548 biolink:AnatomicalEntity forebrain meninges A meninx that is part of a forebrain [Automatically generated definition]. EMAPA:17764|EMAPA:17774|MA:0000883|EMAPA:37543 hp.json meninges of forebrain|meninx of forebrain|forebrain meninx http://purl.obolibrary.org/obo/UBERON_0003548 HP:0500099 biolink:PhenotypicFeature Hair xenobiotic Presence of xenobiotic in hair. hp.json http://purl.obolibrary.org/obo/HP_0500099 UBERON:0003549 biolink:AnatomicalEntity brain pia mater The fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule. VHOG:0000470|EV:0100315|EMAPA:32667|MA:0000816|NCIT:C49335|UMLS:C1706994 hp.json pia mater of neuraxis of brain|brain pia mater of neuraxis|pia mater of brain http://purl.obolibrary.org/obo/UBERON_0003549 pheno_slim GO:0045259 biolink:CellularComponent proton-transporting ATP synthase complex A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient. hp.json F1-F0 complex|hydrogen-transporting ATP synthase complex|proton-transporting F-type ATPase complex|hydrogen-translocating F-type ATPase complex http://purl.obolibrary.org/obo/GO_0045259 UBERON:0003550 biolink:AnatomicalEntity forebrain pia mater A pia mater that is part of a forebrain [Automatically generated definition]. EMAPA:37546|EMAPA:17767|EMAPA:17777|MA:0000886 hp.json forebrain pia mater of neuraxis|pia mater of forebrain|pia mater of neuraxis of forebrain http://purl.obolibrary.org/obo/UBERON_0003550 GO:0060896 biolink:BiologicalProcess neural plate pattern specification The developmental process that results in the creation of defined areas or spaces within the neural plate to which cells respond and eventually are instructed to differentiate. hp.json http://purl.obolibrary.org/obo/GO_0060896 GO:0060897 biolink:BiologicalProcess neural plate regionalization The pattern specification process that results in the subdivision of an axis or axes of the neural plate in space to define an area or volume in which specific patterns of cell differentiation will take place or in which cells interpret a specific environment. hp.json http://purl.obolibrary.org/obo/GO_0060897 UBERON:0003557 biolink:AnatomicalEntity midbrain arachnoid mater An arachnoid mater that is part of a midbrain [Automatically generated definition]. MA:0001059|EMAPA:17792|VHOG:0000233 hp.json mesencephalon arachnoid mater|midbrain arachnoid|midbrain arachnoid mater of neuraxis|arachnoid of midbrain|arachnoid mater of midbrain|arachnoid mater of neuraxis of midbrain http://purl.obolibrary.org/obo/UBERON_0003557 MPATH:622 biolink:NamedThing steatosis Abnormal retention of lipids within a cell. Physically apparent as lipid within liposomes of parenchymal cells. hp.json fatty change|adipose degeneration|lipidosis|fatty degeneration http://purl.obolibrary.org/obo/MPATH_622 UBERON:0003558 biolink:AnatomicalEntity diencephalon arachnoid mater An arachnoid mater that is part of a diencephalon [Automatically generated definition]. VHOG:0000231|EMAPA:17765|MA:0000827 hp.json arachnoid mater of interbrain|arachnoid of mature diencephalon|between brain arachnoid|arachnoid mater of neuraxis of interbrain|diencephalon arachnoid mater of neuraxis|between brain arachnoid mater|arachnoid of diencephalon|interbrain arachnoid|mature diencephalon arachnoid|between brain arachnoid mater of neuraxis|arachnoid mater of diencephalon|arachnoid mater of neuraxis of between brain|mature diencephalon arachnoid mater|interbrain arachnoid mater|arachnoid mater of neuraxis of diencephalon|arachnoid mater of between brain|mature diencephalon arachnoid mater of neuraxis|interbrain arachnoid mater of neuraxis|arachnoid mater of neuraxis of mature diencephalon|arachnoid of between brain|arachnoid of interbrain|diencephalon arachnoid|arachnoid mater of mature diencephalon http://purl.obolibrary.org/obo/UBERON_0003558 UBERON:0003555 biolink:AnatomicalEntity spinal cord pia mater A pia mater that is part of a spinal cord [Automatically generated definition]. EHDAA2:0001896|NCIT:C49800|MA:0001133|EMAPA:17807|UMLS:C1710148|VHOG:0000468 hp.json pia mater of neuraxis of spinal cord|spinal cord pia mater of neuraxis|pia mater of spinal cord http://purl.obolibrary.org/obo/UBERON_0003555 organ_slim UBERON:0003556 biolink:AnatomicalEntity forebrain arachnoid mater An arachnoid mater that is part of a forebrain [Automatically generated definition]. EMAPA:17775|MA:0000884|EMAPA:37544|EMAPA:17765 hp.json arachnoid of forebrain|forebrain arachnoid|forebrain arachnoid mater of neuraxis|arachnoid mater of neuraxis of forebrain|arachnoid mater of forebrain http://purl.obolibrary.org/obo/UBERON_0003556 UBERON:0003553 biolink:AnatomicalEntity diencephalon pia mater A pia mater that is part of a diencephalon [Automatically generated definition]. EHDAA2:0000400|MA:0000829|EMAPA:17767|VHOG:0000475 hp.json pia mater of neuraxis of diencephalon|pia mater of neuraxis of mature diencephalon|mature diencephalon pia mater of neuraxis|interbrain pia mater of neuraxis|pia mater of mature diencephalon|pia mater of interbrain|pia mater of neuraxis of interbrain|diencephalon pia mater of neuraxis|between brain pia mater|pia mater of neuraxis of between brain|between brain pia mater of neuraxis|pia mater of diencephalon|pia mater of between brain|mature diencephalon pia mater|interbrain pia mater http://purl.obolibrary.org/obo/UBERON_0003553 UBERON:0003554 biolink:AnatomicalEntity hindbrain pia mater A pia mater that is part of a hindbrain [Automatically generated definition]. MA:0000990|EHDAA2:0000772|VHOG:0000466|EMAPA:17786 hp.json rhombencephalon pia mater|pia mater of neuraxis of hindbrain|hindbrain pia mater of neuraxis|pia mater of hindbrain http://purl.obolibrary.org/obo/UBERON_0003554 UBERON:0003551 biolink:AnatomicalEntity midbrain pia mater A pia mater that is part of a midbrain [Automatically generated definition]. EMAPA:17794|RETIRED_EHDAA2:0001110|EHDAA2:0001175|VHOG:0000467|MA:0001061 hp.json pia mater of midbrain|pia mater of neuraxis of midbrain|mesencephalon pia mater|midbrain pia mater of neuraxis http://purl.obolibrary.org/obo/UBERON_0003551 UBERON:0003552 biolink:AnatomicalEntity telencephalon pia mater A pia mater that is part of a telencephalon [Automatically generated definition]. MA:0000982|EHDAA2:0001992|VHOG:0000476|EMAPA:17777 hp.json pia mater of neuraxis of telencephalon|telencephalon pia mater of neuraxis|pia mater of telencephalon http://purl.obolibrary.org/obo/UBERON_0003552 MPATH:608 biolink:NamedThing abscess A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. hp.json http://purl.obolibrary.org/obo/MPATH_608 HP:0500086 biolink:PhenotypicFeature Optic nerve gray crescent Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. hp.json Optic nerve grey crescent|Temporal gray pigmentary crescent|Temporal grey pigmentary crescent http://purl.obolibrary.org/obo/HP_0500086 MPATH:607 biolink:NamedThing healing and repair structure Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. hp.json http://purl.obolibrary.org/obo/MPATH_607 HP:0500087 biolink:PhenotypicFeature Peripapillary atrophy Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. hp.json http://purl.obolibrary.org/obo/HP_0500087 GO:0045260 biolink:CellularComponent plasma membrane proton-transporting ATP synthase complex A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species. hp.json hydrogen-transporting ATP synthase|hydrogen-translocating F-type ATPase complex|proton-transporting ATP synthase complex|plasma membrane hydrogen-translocating F-type ATPase complex http://purl.obolibrary.org/obo/GO_0045260 UBERON:0003539 biolink:AnatomicalEntity left lung bronchiole A bronchiole that is part of a left lung [Automatically generated definition]. NCIT:C49252|MA:0001778|UMLS:C0225674|EMAPA:19000 hp.json left lung lobular bronchiole|bronchiole of left lung|lobular bronchiole of left lung http://purl.obolibrary.org/obo/UBERON_0003539 HP:0500088 biolink:PhenotypicFeature Foveal depigmentation Loss of pigment in the fovea centralis. hp.json http://purl.obolibrary.org/obo/HP_0500088 HP:0500089 biolink:PhenotypicFeature Optic nerve sheath meningioma A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2. hp.json http://purl.obolibrary.org/obo/HP_0500089 UBERON:0003538 biolink:AnatomicalEntity right lung bronchiole A bronchiole that is part of a right lung [Automatically generated definition]. MA:0001787|UMLS:C0225670|NCIT:C49279|EMAPA:35425 hp.json bronchiole of right lung|lobular bronchiole of right lung|right lung lobular bronchiole http://purl.obolibrary.org/obo/UBERON_0003538 HP:0500090 biolink:PhenotypicFeature Periocular capillary hemangioma A capillary hemangioma surrounding the eyeball but within the orbit. hp.json Peri-ocular capillary hemangioma http://purl.obolibrary.org/obo/HP_0500090 UBERON:0003547 biolink:AnatomicalEntity brain meninx A meninx that is part of a brain [Automatically generated definition]. CALOHA:TS-2147|EV:0100312|SCTID:180949007|MA:0000813|EMAPA:32662|VHOG:0000013 hp.json meninx of brain|brain meninges|meninges of brain http://purl.obolibrary.org/obo/UBERON_0003547 organ_slim|pheno_slim UBERON:0003544 biolink:AnatomicalEntity brain white matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. MA:0000820|EMAPA:35187|UMLS:C1706995|NCIT:C49334|HBA:9218 hp.json brain white matter of neuraxis|brain white substance|white matter of neuraxis of brain|white matter of brain|white substance of brain http://purl.obolibrary.org/obo/UBERON_0003544 pheno_slim GO:0070202 biolink:BiologicalProcess regulation of establishment of protein localization to chromosome Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location on a chromosome. hp.json regulation of establishment of protein localisation to chromosome http://purl.obolibrary.org/obo/GO_0070202 HP:0500093 biolink:PhenotypicFeature Food allergy Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. hp.json IgE-mediated food allergy|Immunoglobulin E-mediated food allergy|Food allergy http://purl.obolibrary.org/obo/HP_0500093 GO:0070201 biolink:BiologicalProcess regulation of establishment of protein localization Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. hp.json regulation of establishment of protein localisation http://purl.obolibrary.org/obo/GO_0070201 HP:0500094 biolink:PhenotypicFeature Latex allergy Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis. hp.json http://purl.obolibrary.org/obo/HP_0500094 HP:0500091 biolink:PhenotypicFeature Lymphangioma of the orbit A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. hp.json http://purl.obolibrary.org/obo/HP_0500091 UBERON:0003540 biolink:AnatomicalEntity right lung terminal bronchiole A terminal bronchiole that is part of a right lung [Automatically generated definition]. UMLS:C1709961|EMAPA:36638|MA:0001789|NCIT:C49294 hp.json terminal bronchiole of right lung|bronchiolus terminalis of right lung|right lung bronchiolus terminalis http://purl.obolibrary.org/obo/UBERON_0003540 UBERON:0003541 biolink:AnatomicalEntity left lung terminal bronchiole A terminal bronchiole that is part of a left lung [Automatically generated definition]. MA:0001780|EMAPA:36636|NCIT:C49255|UMLS:C1708675 hp.json bronchiolus terminalis of left lung|terminal bronchiole of left lung|left lung bronchiolus terminalis http://purl.obolibrary.org/obo/UBERON_0003541 HP:0500092 biolink:PhenotypicFeature Orbital rhabdomyosarcoma A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit. hp.json http://purl.obolibrary.org/obo/HP_0500092 HP:0500075 biolink:PhenotypicFeature Dissociated horizontal deviation A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes. hp.json http://purl.obolibrary.org/obo/HP_0500075 UBERON:0015593 biolink:AnatomicalEntity frontal gyrus A gyrus that is part of a frontal cortex. NCIT:C32636 hp.json http://purl.obolibrary.org/obo/UBERON_0015593 HP:0500076 biolink:PhenotypicFeature Alternating hypertropia A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards. hp.json http://purl.obolibrary.org/obo/HP_0500076 GO:0070230 biolink:BiologicalProcess positive regulation of lymphocyte apoptotic process Any process that activates or increases the frequency, rate or extent of lymphocyte death by apoptotic process. hp.json positive regulation of lymphocyte apoptosis|upregulation of lymphocyte apoptosis|up regulation of lymphocyte apoptosis|stimulation of lymphocyte apoptosis|up-regulation of lymphocyte apoptosis|activation of lymphocyte apoptosis http://purl.obolibrary.org/obo/GO_0070230 HP:0500073 biolink:PhenotypicFeature Abnormal ocular alignment Any deviation from the normal ocular alignment. hp.json http://purl.obolibrary.org/obo/HP_0500073 HP:0500074 biolink:PhenotypicFeature Dissociated vertical deviation An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering. hp.json http://purl.obolibrary.org/obo/HP_0500074 HP:0500079 biolink:PhenotypicFeature Alternating hypophoria A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards. hp.json http://purl.obolibrary.org/obo/HP_0500079 HP:0500077 biolink:PhenotypicFeature Alternating hyperphoria A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards. hp.json http://purl.obolibrary.org/obo/HP_0500077 HP:0500078 biolink:PhenotypicFeature Alternating hypotropia A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards. hp.json http://purl.obolibrary.org/obo/HP_0500078 MPATH:602 biolink:NamedThing hyperplastic tissue An organ or a tissue with an abnormal increase in the number of cells as a consequence of cell proliferation. hp.json http://purl.obolibrary.org/obo/MPATH_602 GO:0070233 biolink:BiologicalProcess negative regulation of T cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of T cell death by apoptotic process. hp.json negative regulation of T cell apoptosis|down regulation of T cell apoptosis|inhibition of T cell apoptosis|down-regulation of T cell apoptosis|negative regulation of programmed cell death of T cells by apoptosis|negative regulation of T-cell apoptosis|negative regulation of T lymphocyte apoptosis|negative regulation of T-lymphocyte apoptosis|downregulation of T cell apoptosis http://purl.obolibrary.org/obo/GO_0070233 GO:0070234 biolink:BiologicalProcess positive regulation of T cell apoptotic process Any process that activates or increases the frequency, rate or extent of T cell death by apoptotic process. hp.json activation of T cell apoptosis|positive regulation of T-lymphocyte apoptosis|positive regulation of programmed cell death of T cells by apoptosis|positive regulation of T cell apoptosis|upregulation of T cell apoptosis|up regulation of T cell apoptosis|stimulation of T cell apoptosis|positive regulation of T-cell apoptosis|positive regulation of T lymphocyte apoptosis|up-regulation of T cell apoptosis http://purl.obolibrary.org/obo/GO_0070234 MPATH:603 biolink:NamedThing pathological anatomical entity Anatomically located instance of pathological response or entity. hp.json http://purl.obolibrary.org/obo/MPATH_603 GO:0070231 biolink:BiologicalProcess T cell apoptotic process Any apoptotic process in a T cell, a type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. hp.json T-cell apoptosis|T lymphocyte apoptosis|programmed cell death of T cells by apoptosis|T-lymphocyte apoptosis|T cell apoptosis http://purl.obolibrary.org/obo/GO_0070231 GO:0070232 biolink:BiologicalProcess regulation of T cell apoptotic process Any process that modulates the occurrence or rate of T cell death by apoptotic process. hp.json regulation of T-cell apoptosis|regulation of T lymphocyte apoptosis|regulation of T-lymphocyte apoptosis|regulation of T cell apoptosis|regulation of programmed cell death of T cells by apoptosis http://purl.obolibrary.org/obo/GO_0070232 HP:0500081 biolink:PhenotypicFeature Pseudophakia The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). hp.json http://purl.obolibrary.org/obo/HP_0500081 HP:0500064 biolink:PhenotypicFeature Retinopathy of prematurity threshold A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease. hp.json ROP threshold http://purl.obolibrary.org/obo/HP_0500064 HP:0500065 biolink:PhenotypicFeature Retinopathy of prematurity prethreshold High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both. hp.json ROP prethreshold http://purl.obolibrary.org/obo/HP_0500065 HP:0500062 biolink:PhenotypicFeature Retinopathy of prematurity plus Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye. hp.json ROP plus http://purl.obolibrary.org/obo/HP_0500062 HP:0500063 biolink:PhenotypicFeature Retinopathy of prematurity pre-plus As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal. hp.json ROP pre-plus http://purl.obolibrary.org/obo/HP_0500063 HP:0500069 biolink:PhenotypicFeature Paralytic ectropion A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. hp.json http://purl.obolibrary.org/obo/HP_0500069 HP:0500066 biolink:PhenotypicFeature Latent myopia The difference between total and manifest myopia. hp.json http://purl.obolibrary.org/obo/HP_0500066 CHEBI:10545 biolink:ChemicalSubstance electron Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. Wikipedia:Electron|PMID:21614077|KEGG:C05359|PMID:21614077 hp.json e|beta-particle|beta(-)|electron|beta|e(-)|negatron|e-|electron|Elektron|electron http://purl.obolibrary.org/obo/CHEBI_10545 3_STAR GO:0070228 biolink:BiologicalProcess regulation of lymphocyte apoptotic process Any process that modulates the occurrence or rate of lymphocyte death by apoptotic process. hp.json regulation of lymphocyte apoptosis http://purl.obolibrary.org/obo/GO_0070228 GO:0070229 biolink:BiologicalProcess negative regulation of lymphocyte apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte death by apoptotic process. hp.json downregulation of lymphocyte apoptosis|negative regulation of lymphocyte apoptosis|down regulation of lymphocyte apoptosis|inhibition of lymphocyte apoptosis|down-regulation of lymphocyte apoptosis http://purl.obolibrary.org/obo/GO_0070229 GO:0070227 biolink:BiologicalProcess lymphocyte apoptotic process Any apoptotic process in a lymphocyte, a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. hp.json lymphocyte apoptosis http://purl.obolibrary.org/obo/GO_0070227 CHEBI:22558 biolink:ChemicalSubstance anhydro sugar Intramolecular ethers formally arising by elimination of water from two hydroxy groups of a single molecule of a monosaccharide (aldose or ketose) or monosaccharide derivative. hp.json anhydrosugars|sugar anhydrides|anhydro sugar|anhydro sugars|sugar anhydride http://purl.obolibrary.org/obo/CHEBI_22558 3_STAR HP:0500072 biolink:PhenotypicFeature Absolute eccentric fixation Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. hp.json http://purl.obolibrary.org/obo/HP_0500072 HP:0500070 biolink:PhenotypicFeature Conjunctival dermolipoma A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. hp.json http://purl.obolibrary.org/obo/HP_0500070 HP:0500053 biolink:PhenotypicFeature Retinopathy of prematurity stage 4 Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment. hp.json ROP stage 4 http://purl.obolibrary.org/obo/HP_0500053 GO:0045296 biolink:MolecularActivity cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion. hp.json http://purl.obolibrary.org/obo/GO_0045296 HP:0500054 biolink:PhenotypicFeature Retinopathy of prematurity stage 4a A detachment that involves the peripheral retina that does not extend into the macula. hp.json ROP stage 4a http://purl.obolibrary.org/obo/HP_0500054 HP:0500051 biolink:PhenotypicFeature Retinopathy of prematurity stage 2 The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous. hp.json ROP stage 2 http://purl.obolibrary.org/obo/HP_0500051 HP:0500052 biolink:PhenotypicFeature Retinopathy of prematurity stage 3 The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina. hp.json ROP stage 3 http://purl.obolibrary.org/obo/HP_0500052 HP:0500057 biolink:PhenotypicFeature Retinopathy of prematurity stage 5a An open funnel detachment of the retina with generally traction in all four quadrants. hp.json ROP stage 5a http://purl.obolibrary.org/obo/HP_0500057 HP:0500058 biolink:PhenotypicFeature Retinopathy of prematurity stage 5b A closed funnel detachment of the retina with generally traction in all four quadrants. hp.json ROP stage 5b http://purl.obolibrary.org/obo/HP_0500058 HP:0500055 biolink:PhenotypicFeature Retinopathy of prematurity stage 4b A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well. hp.json ROP 4b http://purl.obolibrary.org/obo/HP_0500055 HP:0500056 biolink:PhenotypicFeature Retinopathy of prematurity stage 5 Funnel detachment from the retina with generally traction in all four quadrants. hp.json ROP stage 5 http://purl.obolibrary.org/obo/HP_0500056 HP:0500059 biolink:PhenotypicFeature Retinopathy of prematurity zone I Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. hp.json ROP zone 1 http://purl.obolibrary.org/obo/HP_0500059 CHEBI:356416 biolink:ChemicalSubstance 5-ammoniolevulinate The zwitterion formed from 5-aminolevulinic acid by transfer of a proton from the carboxy group to the amino group. It is the major species present at physiological pH. PMID:14667225 hp.json 5-azaniumyl-4-oxopentanoate|5-ammonio-4-oxovalerate|5-aminolevulinate|5-ammonio-4-oxopentanoate http://purl.obolibrary.org/obo/CHEBI_356416 3_STAR UBERON:0003593 biolink:AnatomicalEntity thoracic cavity connective tissue A portion of connective tissue that is part of a thoracic cavity [Automatically generated definition]. EMAPA:37255|MA:0000555 hp.json textus connectivus of cavity of thorax|pectoral cavity portion of connective tissue|connective tissue of chest cavity|portion of connective tissue of chest cavity|cavity of chest portion of connective tissue|cavity of thorax connective tissue|thoracic cavity portion of connective tissue|cavity of thorax textus connectivus|connective tissue of thoracic cavity|portion of connective tissue of thoracic cavity|connective tissue of pectoral cavity|portion of connective tissue of cavity of chest|portion of connective tissue of pectoral cavity|chest cavity portion of connective tissue|connective tissue of cavity of chest|cavity of chest textus connectivus|textus connectivus of chest cavity|pectoral cavity textus connectivus|thoracic cavity textus connectivus|connective tissue of cavity of thorax|portion of connective tissue of cavity of thorax|chest cavity connective tissue|chest cavity textus connectivus|cavity of thorax portion of connective tissue|textus connectivus of thoracic cavity|pectoral cavity connective tissue|textus connectivus of cavity of chest|cavity of chest connective tissue|textus connectivus of pectoral cavity http://purl.obolibrary.org/obo/UBERON_0003593 UBERON:0003594 biolink:AnatomicalEntity pelvis connective tissue A portion of connective tissue that is part of a pelvis [Automatically generated definition]. EMAPA:37257|MA:0000533 hp.json pelvis textus connectivus|textus connectivus of pelvis|pelvis portion of connective tissue|portion of connective tissue of pelvis|connective tissue of pelvis http://purl.obolibrary.org/obo/UBERON_0003594 UBERON:0003592 biolink:AnatomicalEntity bronchus connective tissue A portion of connective tissue that is part of a bronchus [Automatically generated definition]. NCIT:C49210|MA:0001831|EMAPA:32690|UMLS:C1707052|EMAPA:35193 hp.json bronchial mesenchyme|portion of connective tissue of bronchi|connective tissue of bronchi|bronchus portion of connective tissue|connective tissue of bronchial trunk|portion of connective tissue of bronchial trunk|bronchial trunk portion of connective tissue|connective tissue of bronchus|bronchi portion of connective tissue|portion of connective tissue of bronchus|bronchus textus connectivus|textus connectivus of bronchi|bronchial trunk textus connectivus|bronchi connective tissue|textus connectivus of bronchus|bronchi textus connectivus|bronchial trunk connective tissue|textus connectivus of bronchial trunk|bronchial connective tissue http://purl.obolibrary.org/obo/UBERON_0003592 CHEBI:22527 biolink:ChemicalSubstance aminopurine Any purine having at least one amino substituent. hp.json aminopurines http://purl.obolibrary.org/obo/CHEBI_22527 3_STAR UBERON:0003599 biolink:AnatomicalEntity tail connective tissue A portion of connective tissue that is part of a tail [Automatically generated definition]. EMAPA:16749|MA:0000697 hp.json textus connectivus of tail|post-vent region connective tissue|tail portion of connective tissue|post-vent region portion of connective tissue|portion of connective tissue of post-vent region|connective tissue of post-vent region|tail textus connectivus|connective tissue of tail|portion of connective tissue of tail|post-vent region textus connectivus|textus connectivus of post-vent region http://purl.obolibrary.org/obo/UBERON_0003599 GO:0070257 biolink:BiologicalProcess positive regulation of mucus secretion Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. hp.json positive regulation of mucus production http://purl.obolibrary.org/obo/GO_0070257 UBERON:0003597 biolink:AnatomicalEntity manual digit connective tissue A portion of connective tissue that is part of a finger [Automatically generated definition]. EMAPA:37321|MA:0000623 hp.json connective tissue of finger|connective tissue of digit of hand|connective tissue of digitus manus|hand digit connective tissue|hand digit connective tissue|connective tissue of hand digit|fore limb digit connective tissue http://purl.obolibrary.org/obo/UBERON_0003597 GO:0070255 biolink:BiologicalProcess regulation of mucus secretion Any process that modulates the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. hp.json regulation of mucus production http://purl.obolibrary.org/obo/GO_0070255 HP:0500060 biolink:PhenotypicFeature Retinopathy of prematurity zone II Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata. hp.json ROP zone II http://purl.obolibrary.org/obo/HP_0500060 UBERON:0003598 biolink:AnatomicalEntity manus connective tissue A portion of connective tissue that is part of a hand [Automatically generated definition]. MA:0000620|EMAPA:35392 hp.json hand connective tissue|connective tissue of hand|connective tissue of terminal segment of free upper limb http://purl.obolibrary.org/obo/UBERON_0003598 GO:0070256 biolink:BiologicalProcess negative regulation of mucus secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. hp.json negative regulation of mucus production http://purl.obolibrary.org/obo/GO_0070256 HP:0500061 biolink:PhenotypicFeature Retinopathy of prematurity zone III Retinopathy which is a residual crescent of retina anterior to zone II. hp.json ROP zone III http://purl.obolibrary.org/obo/HP_0500061 GO:0070253 biolink:BiologicalProcess somatostatin secretion The regulated release of somatostatin from secretory granules in the D cells of the pancreas. hp.json http://purl.obolibrary.org/obo/GO_0070253 UBERON:0003595 biolink:AnatomicalEntity pes connective tissue A portion of connective tissue that is part of a foot [Automatically generated definition]. MA:0000644|EMAPA:37329 hp.json foot connective tissue|textus connectivus of pes|connective tissue of foot|connective tissue of terminal segment of free lower limb http://purl.obolibrary.org/obo/UBERON_0003595 GO:0070254 biolink:BiologicalProcess mucus secretion The regulated release of mucus by the mucosa. Mucus is a viscous slimy secretion consisting of mucins and various inorganic salts dissolved in water, with suspended epithelial cells and leukocytes. The mucosa, or mucous membrane, is the membrane covered with epithelium that lines the tubular organs of the body. Mucins are carbohydrate-rich glycoproteins that have a lubricating and protective function. hp.json mucus production http://purl.obolibrary.org/obo/GO_0070254 UBERON:0003596 biolink:AnatomicalEntity ankle connective tissue A portion of connective tissue that is part of an ankle [Automatically generated definition]. MA:0000639|EMAPA:37328 hp.json connective tissue of ankle|tarsal region connective tissue http://purl.obolibrary.org/obo/UBERON_0003596 HP:0500042 biolink:PhenotypicFeature Latent hypermetropia A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye. hp.json Latent hyperopia http://purl.obolibrary.org/obo/HP_0500042 HP:0500043 biolink:PhenotypicFeature Eyelid retraction With the eyes in primary position, the sclera is visible above the superior corneal limbus. hp.json http://purl.obolibrary.org/obo/HP_0500043 HP:0500040 biolink:PhenotypicFeature Dermolipoma of the conjunctiva A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix. hp.json Conjunctival lipodermoid http://purl.obolibrary.org/obo/HP_0500040 HP:0500041 biolink:PhenotypicFeature Myopic astigmatism A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. hp.json http://purl.obolibrary.org/obo/HP_0500041 HP:0500046 biolink:PhenotypicFeature Seborrhoeic blepharitis Inflamation of the eyelid due to overactivity of the sebaceous gland. hp.json http://purl.obolibrary.org/obo/HP_0500046 HP:0500047 biolink:PhenotypicFeature Nasolacrimal sac lymphoma A type of lymphoma that involves the nasolacrimal sac. hp.json http://purl.obolibrary.org/obo/HP_0500047 HP:0500044 biolink:PhenotypicFeature Upper eyelid retraction An elevation of the eyelid above the normal level in the primary position. hp.json http://purl.obolibrary.org/obo/HP_0500044 HP:0500045 biolink:PhenotypicFeature Collier's sign A unilateral or bilateral eyelid retraction due to midbrain lesions. hp.json http://purl.obolibrary.org/obo/HP_0500045 HP:0500048 biolink:PhenotypicFeature Delayed canalization of nasolacrimal duct A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period. hp.json http://purl.obolibrary.org/obo/HP_0500048 HP:0500049 biolink:PhenotypicFeature Retinopathy of prematurity An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. hp.json http://purl.obolibrary.org/obo/HP_0500049 UBERON:0003582 biolink:AnatomicalEntity nasopharynx connective tissue A portion of connective tissue that is part of a nasopharynx [Automatically generated definition]. EMAPA:37682|MA:0001864 hp.json nasal part of pharynx textus connectivus|connective tissue of rhinopharynx|portion of connective tissue of rhinopharynx|nasopharynx textus connectivus|textus connectivus of nasopharynx|rhinopharynx portion of connective tissue|textus connectivus of nasal part of pharynx|nasal part of pharynx connective tissue|textus connectivus of rhinopharynx|nasal part of pharynx portion of connective tissue|rhinopharynx connective tissue|nasopharynx portion of connective tissue|portion of connective tissue of nasopharynx|connective tissue of nasopharynx|rhinopharynx textus connectivus|connective tissue of nasal part of pharynx|portion of connective tissue of nasal part of pharynx http://purl.obolibrary.org/obo/UBERON_0003582 UBERON:0003583 biolink:AnatomicalEntity larynx connective tissue A portion of connective tissue that is part of a larynx [Automatically generated definition]. NCIT:C49245|MA:0001754|UMLS:C1708651|EMAPA:35471 hp.json portion of connective tissue of larynx|connective tissue of larynx|laryngeal connective tissue|larynx portion of connective tissue|textus connectivus of larynx|larynx textus connectivus http://purl.obolibrary.org/obo/UBERON_0003583 UBERON:0003580 biolink:AnatomicalEntity lower respiratory tract connective tissue A portion of connective tissue that is part of a lower respiratory tract [Automatically generated definition]. MA:0002409|EMAPA:37548 hp.json textus connectivus of lower respiratory tract|lower respiratory tract textus connectivus|connective tissue of lower respiratory tract|portion of connective tissue of lower respiratory tract|lower respiratory tract portion of connective tissue http://purl.obolibrary.org/obo/UBERON_0003580 UBERON:0003581 biolink:AnatomicalEntity eyelid connective tissue A portion of connective tissue that is part of a eyelid [Automatically generated definition]. MA:0001251|EMAPA:37532|UMLS:C1707989|NCIT:C49482 hp.json connective tissue of eyelid|connective tissue of blepharon|blepharon connective tissue http://purl.obolibrary.org/obo/UBERON_0003581 NCBITaxon:9347 biolink:OrganismalEntity Eutheria GC_ID:1 hp.json placentals|placental mammals|placentals|eutherian mammals|Placentalia http://purl.obolibrary.org/obo/NCBITaxon_9347 UBERON:0003588 biolink:AnatomicalEntity forelimb connective tissue A portion of connective tissue that is part of a forelimb [Automatically generated definition]. EMAPA:37314|MA:0000613 hp.json connective tissue of superior member|wing connective tissue|connective tissue of upper extremity|connective tissue of anteriormost limb|connective tissue of fore limb|connective tissue of forelimb http://purl.obolibrary.org/obo/UBERON_0003588 UBERON:0003589 biolink:AnatomicalEntity hindlimb connective tissue A portion of connective tissue that is part of a hindlimb [Automatically generated definition]. MA:0000661|EMAPA:37322 hp.json connective tissue of hind limb|connective tissue of hindlimb|connective tissue of lower extremity|hind limb connective tissue|connective tissue of inferior member http://purl.obolibrary.org/obo/UBERON_0003589 UBERON:0003586 biolink:AnatomicalEntity trunk connective tissue A portion of connective tissue that is part of a trunk [Automatically generated definition]. EMAPA:37252|MA:0000513 hp.json textus connectivus of torso|torso connective tissue|connective tissue of trunk|torso portion of connective tissue|portion of connective tissue of trunk|trunk portion of connective tissue|connective tissue of torso|portion of connective tissue of torso|torso textus connectivus|trunk textus connectivus|textus connectivus of trunk http://purl.obolibrary.org/obo/UBERON_0003586 UBERON:0003587 biolink:AnatomicalEntity limb connective tissue A portion of connective tissue that is part of a limb [Automatically generated definition]. EMAPA:37313|MA:0000689 hp.json limb portion of connective tissue|portion of connective tissue of limb|connective tissue of limb|limb textus connectivus|textus connectivus of limb http://purl.obolibrary.org/obo/UBERON_0003587 HP:0500050 biolink:PhenotypicFeature Retinopathy of prematurity stage 1 The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina. hp.json ROP stage 1 http://purl.obolibrary.org/obo/HP_0500050 UBERON:0003584 biolink:AnatomicalEntity mammary gland connective tissue The fibrous supportive tissue of the mammary gland. EMAPA:35537|FMA:74483|MA:0002897|FMA:74479 hp.json lactiferous gland portion of connective tissue|connective tissue of lobe of mammary gland|connective tissue of mammary gland|lactiferous gland connective tissue|stroma of lactiferous gland|lactiferous gland stroma|connective tissue of lactiferous gland|mammary stroma|mammary gland stroma|connective tissue of lobe of breast http://purl.obolibrary.org/obo/UBERON_0003584 pheno_slim UBERON:0003585 biolink:AnatomicalEntity dermis connective tissue A portion of connective tissue that is part of a dermis [Automatically generated definition]. MA:0000799|EMAPA:36509 hp.json dermis textus connectivus|connective tissue of dermis|portion of connective tissue of dermis|dermis portion of connective tissue|textus connectivus of dermis http://purl.obolibrary.org/obo/UBERON_0003585 pheno_slim UBERON:0003609 biolink:AnatomicalEntity aorta elastic tissue The dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall. MA:0002859 hp.json textus connectivus elasticus of adult aorta|aorta elastic connective tissue|elastic connective tissue of dorsal aorta|trunk of aortic tree textus connectivus elasticus|elastic connective tissue of trunk of aortic tree|elastic connective tissue of aorta|aorta elastic lamina|dorsal aorta textus connectivus elasticus|aorta elastic laminae|trunk of aortic tree elastic tissue|dorsal aorta elastic tissue|adult aorta textus connectivus elasticus|elastic tissue of aorta|adult aorta elastic connective tissue|elastic connective tissue of adult aorta|adult aorta elastic tissue|textus connectivus elasticus of aorta|dorsal aorta elastic connective tissue|textus connectivus elasticus of dorsal aorta|textus connectivus elasticus of trunk of aortic tree|trunk of aortic tree elastic connective tissue|aorta textus connectivus elasticus|elastic tissue of adult aorta|elastic tissue of dorsal aorta|elastic tissue of trunk of aortic tree http://purl.obolibrary.org/obo/UBERON_0003609 pheno_slim HP:0500273 biolink:PhenotypicFeature Increased proportion of immature gamma-delta T cells Increased proportion of immature gamma-delta T cells relative to the total number of T cells. hp.json Increased proportion of immature gamma-delat T lymphocytes|Elevated proportion of immature gamma-delta T cells|Increased proportion of immature gamma-delta T-lymphocytes|Increased proportion of immature gamma-delta T-cells http://purl.obolibrary.org/obo/HP_0500273 HP:0500274 biolink:PhenotypicFeature Decreased proportion of immature gamma-delta T cells Decreased proportion of immature gamma-delta T cells relative to the total number of T cells. hp.json Reduced proportion of immature gamma-delta T cells|Decreased proportion of immature gamma-delta T-lymphocytes|Decreased proportion of immature gamma-delta T lymphocytes|Decreased proportion of immature gamma-delta T-cells http://purl.obolibrary.org/obo/HP_0500274 UBERON:0003607 biolink:AnatomicalEntity forelimb long bone A long bone that is part of a forelimb [Automatically generated definition]. MA:0000299|EMAPA:35350 hp.json long bone of forelimb|upper extremity long bone|anteriormost limb long bone|fore limb long bone|wing long bone|long bone of superior member|long bone of anteriormost limb|long bone of upper extremity|long bone of fore limb|superior member long bone http://purl.obolibrary.org/obo/UBERON_0003607 HP:0500271 biolink:PhenotypicFeature Decreased proportion of gamma-delta T cells Decreased proportion of gamma-delta T cells relative to the total number of T cells. hp.json Decreased proportion of gamma-delta T-cells|Decreased proportion of gammadelta T cells|Reduced proportion of gamma-delta T cells|Decreased proportion of gamma-delta T-lymphocytes|Decreased proportion of gamma-delta T lymphocytes http://purl.obolibrary.org/obo/HP_0500271 UBERON:0003608 biolink:AnatomicalEntity hindlimb long bone A long bone that is part of a hindlimb [Automatically generated definition]. MA:0000300|EMAPA:35403 hp.json lower extremity long bone|long bone of inferior member|long bone of hind limb|long bone of hindlimb|long bone of lower extremity|inferior member long bone|hind limb long bone http://purl.obolibrary.org/obo/UBERON_0003608 HP:0500272 biolink:PhenotypicFeature Abnormal proportion of immature gamma-delta T cells Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells. hp.json Abnormal proportion of immature gamma-delta T-lymphocytes|Abnormal proportion of immature gamma-delta T lymphocytes|Abnormal proportion of immature gamma-delta T-cells http://purl.obolibrary.org/obo/HP_0500272 UBERON:0003605 biolink:AnatomicalEntity eye skin gland A skin gland that is part of a camera-type eye [Automatically generated definition]. MA:0002451|EMAPA:37530 hp.json skin glands set of vertebrate eye|camera-type eye skin gland|skin glands of vertebrate eye|skin gland of camera-type eye|camera-type eye skin glands set|skin gland of vertebrate eye|camera-type eye skin glands|skin glands of camera-type eye|vertebrate eye skin glands set|skin glands set of camera-type eye|vertebrate eye skin glands|vertebrate eye skin gland http://purl.obolibrary.org/obo/UBERON_0003605 organ_slim UBERON:0003606 biolink:AnatomicalEntity limb long bone A long bone that is part of a limb [Automatically generated definition]. MA:0000298|EMAPA:35495 hp.json long bone of limb http://purl.obolibrary.org/obo/UBERON_0003606 pheno_slim UBERON:0003603 biolink:AnatomicalEntity lower respiratory tract cartilage A cartilage that is part of a lower respiratory tract [Automatically generated definition]. UMLS:C1708759|EMAPA:37547|MA:0001819|NCIT:C49256 hp.json cartilage of lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0003603 UBERON:0003604 biolink:AnatomicalEntity trachea cartilage The ring-shaped cartilaginous structures that support the trachea. UMLS:C1710456|NCIT:C49304|EMAPA:35875|MA:0001857|EMAPA:18699|FMA:7434 hp.json cartilaginous ring of trachea|tracheal ring|cartilage of windpipe|tracheal cartilage|trachea ring|cartilage of the trachea|windpipe cartilage|ring of the trachea|cartilaginous trachea cartilage|cartilago trachealis|cartilage of trachea|cartilagines tracheales http://purl.obolibrary.org/obo/UBERON_0003604 pheno_slim|human_reference_atlas UBERON:0003613 biolink:AnatomicalEntity cardiovascular system elastic tissue An elastic tissue that is part of a circulatory system [Automatically generated definition]. MA:0002857 hp.json textus connectivus elasticus of cardiovascular system|circulatory system textus connectivus elasticus|circulatory system elastic tissue|circulatory system elastic connective tissue|textus connectivus elasticus of circulatory system|elastic tissue of circulatory system|cardiovascular system elastic connective tissue|elastic connective tissue of cardiovascular system|elastic connective tissue of circulatory system|elastic tissue of cardiovascular system|cardiovascular system textus connectivus elasticus http://purl.obolibrary.org/obo/UBERON_0003613 UBERON:0003610 biolink:AnatomicalEntity heart elastic tissue The type of heart connective tissue found in the endocardial layer that consists mainly of elastic fibers. MA:0002858 hp.json heart elastic connective tissue|cardiac elastic tissue|elastic connective tissue of heart|heart textus connectivus elasticus|elastic tissue of heart|textus connectivus elasticus of heart http://purl.obolibrary.org/obo/UBERON_0003610 pheno_slim UBERON:0003611 biolink:AnatomicalEntity respiratory system elastic tissue An elastic tissue that is part of a respiratory system [Automatically generated definition]. EMAPA:37579|MA:0001820 hp.json elastic connective tissue of respiratory system|apparatus respiratorius textus connectivus elasticus|apparatus respiratorius elastic connective tissue|elastic connective tissue of apparatus respiratorius|apparatus respiratorius elastic tissue|elastic tissue of apparatus respiratorius|respiratory system elastic connective tissue|textus connectivus elasticus of respiratory system|textus connectivus elasticus of apparatus respiratorius|respiratory system textus connectivus elasticus|elastic tissue of respiratory system http://purl.obolibrary.org/obo/UBERON_0003611 CHEBI:138103 biolink:ChemicalSubstance inorganic acid A Bronsted acid derived from one or more inorganic compounds. Inorganic acids (also known as mineral acids) form hydrons and conjugate base ions when dissolved in water. Wikipedia:Mineral_acid hp.json mineral acid|mineral acids|inorganic acids http://purl.obolibrary.org/obo/CHEBI_138103 3_STAR HP:0500262 biolink:PhenotypicFeature Atrichia The most dramatic and severe form of hair loss characterized by an absence of hair follicles. hp.json http://purl.obolibrary.org/obo/HP_0500262 HP:0500263 biolink:PhenotypicFeature Abnormal helper T cell proportion Abnormal proportion of helper T cells relative to the total number of T cells. hp.json Abnormal proportion of circulating T-helper cells http://purl.obolibrary.org/obo/HP_0500263 HP:0500260 biolink:PhenotypicFeature Triggered by head trauma Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma. hp.json Head trauma triggered symptoms http://purl.obolibrary.org/obo/HP_0500260 HP:0500261 biolink:PhenotypicFeature Triggered by anesthetics Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics. hp.json Anaesthetics triggered symptoms|Anaesthetics trigger episodes|Anesthetics triggered symptoms|Anesthetics trigger episodes|Triggered by anaesthetics http://purl.obolibrary.org/obo/HP_0500261 HP:0500266 biolink:PhenotypicFeature Decreased proportion of CD8-positive, alpha-beta TEMRA T cells An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. hp.json Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated http://purl.obolibrary.org/obo/HP_0500266 HP:0500267 biolink:PhenotypicFeature Abnormal proportion of CD4-positive helper T cells An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count. hp.json http://purl.obolibrary.org/obo/HP_0500267 HP:0500264 biolink:PhenotypicFeature Increased helper T cell proportion Increased proportion of helper T cells relative to the total number of T cells. hp.json Elevated helper T cell proportion|Increased proportion T-helper cells http://purl.obolibrary.org/obo/HP_0500264 HP:0500265 biolink:PhenotypicFeature Increased proportion of CD8-positive, alpha-beta TEMRA T cells An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. hp.json Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated http://purl.obolibrary.org/obo/HP_0500265 HP:0500269 biolink:PhenotypicFeature Abnormal proportion of gamma-delta T cells Abnormal proportion of gamma-delta T cells relative to the total number of T cells. hp.json Abnormal proportion of gamma-delta T-lymphocytes|Abnormal proportion of gammadelta T cells|Abnormal proprotion of gamma-delta T lymphocytes http://purl.obolibrary.org/obo/HP_0500269 UBERON:0003601 biolink:AnatomicalEntity neck cartilage A cartilage that is part of a neck [Automatically generated definition]. EMAPA:37251|MA:0000586 hp.json neck (volume) cartilage|cartilage of neck|cartilage of neck (volume) http://purl.obolibrary.org/obo/UBERON_0003601 HP:0500270 biolink:PhenotypicFeature Increased proportion of gamma-delta T cells Increased proportion of gamma-delta T cells relative to the total number of T cells. hp.json Increased proportion of gamma-delta T-lymphocytes|Increased proportion of gamma-delta T lymphocytes|Increased proportion of gamma-delta T-cells|Increased proportion of gammadelta T cells|Elevated proportion of gamma-delta T cells http://purl.obolibrary.org/obo/HP_0500270 HP:0500251 biolink:PhenotypicFeature Abnormal urine sebacic acid concentration Abnormal concentration of sebacic acid in the urine. hp.json Abnormal urine decanedioic acid concentration http://purl.obolibrary.org/obo/HP_0500251 HP:0500252 biolink:PhenotypicFeature Increased urine sebacic acid concentration Elevated concentration of sebacic acid in the urine. hp.json Increased urine decanedioic acid concentration http://purl.obolibrary.org/obo/HP_0500252 HP:0500250 biolink:PhenotypicFeature Increased circulating ethanolamine concentration Abnormally increased levels of ethanolamine in circulation. hp.json High ethanolamine levels in the blood http://purl.obolibrary.org/obo/HP_0500250 HP:0500255 biolink:PhenotypicFeature Increased level of hexanoylglycine in urine Elevated concentration of hexanoylglycine in the urine. hp.json Elevated urinary N-hexanoylglycine concentration http://purl.obolibrary.org/obo/HP_0500255 HP:0500256 biolink:PhenotypicFeature Abnormal urine isobutyrylglycine concentration Abnormal concentration of isobutyrylglycine in the urine. hp.json Abnormal urinary isobutyrylglycine levels http://purl.obolibrary.org/obo/HP_0500256 HP:0500253 biolink:PhenotypicFeature Increased level of gamma-aminobutyric acid in urine Elevated concentration of gamma-aminobutyric acid in the urine. hp.json Increased urinary excretion of gamma-aminobutyric acid (GABA) http://purl.obolibrary.org/obo/HP_0500253 HP:0500254 biolink:PhenotypicFeature Abnormal urine hexanoylglycine concentration Abnormal concentration of hexanoylglycine in the urine. hp.json Abnormal urinary N-hexanoylglycine levels http://purl.obolibrary.org/obo/HP_0500254 HP:0500259 biolink:PhenotypicFeature Abnormal oxygen level in cord blood An abnormal level of blood oxygen in the cord blood. hp.json Abnormal oxygen amount in umbilical cord blood|Abnormal cord blood oxygen levels|Abnormal O2 level in cord blood http://purl.obolibrary.org/obo/HP_0500259 HP:0500257 biolink:PhenotypicFeature Increased urine isobutyrylglycine concentration Elevated concentration of isobutyrylglycine in the urine. hp.json High urinary isobutyrylglycine levels http://purl.obolibrary.org/obo/HP_0500257 HP:0500258 biolink:PhenotypicFeature Abnormal carbon dioxide level in cord blood Abnormal amount of carbon dioxide in umbilical cord blood hp.json Abnormal umbilical cord blood levels of carbon dioxide|Abnormal CO2 level in cord blood http://purl.obolibrary.org/obo/HP_0500258 PR:000009771 biolink:Protein galectin-3 A protein that is a translation product of the human LGALS3 gene or a 1:1 ortholog thereof. hp.json LGALS3|35 kDa lectin|carbohydrate-binding protein 35|galactose-specific lectin 3|IgE-binding protein|Mac-2 antigen|CBP 35|galactoside-binding protein|GALBP|L-31|L-34 galactoside-binding lectin|laminin-binding protein|lectin L-29|MAC2|gal-3 http://purl.obolibrary.org/obo/PR_000009771 HP:0500240 biolink:PhenotypicFeature Abnormal CSF carnosine concentration Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. hp.json Abnormal carnosine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500240 HP:0500241 biolink:PhenotypicFeature Abnormal CSF homocarnosine concentration Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. hp.json Abnormal homocarnosine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500241 HP:0500244 biolink:PhenotypicFeature Increased CSF ornithine concentration Abnormally increased levels of ornithine in cerebrospinal fluid. hp.json High ornithine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500244 HP:0500245 biolink:PhenotypicFeature Abnormal CSF citrulline concentration Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. hp.json Abnormal citrulline levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500245 HP:0500242 biolink:PhenotypicFeature Increased CSF homocarnosine concentration Abnormally increased levels of homocarnosine in cerebrospinal fluid. hp.json High homocarnosine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500242 HP:0500243 biolink:PhenotypicFeature Abnormal CSF ornithine concentration Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. hp.json Abnormal ornithine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500243 HP:0500248 biolink:PhenotypicFeature Increased CSF alpha-aminobutyrate concentration Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid. hp.json High alpha-aminobutyrate levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500248 HP:0500249 biolink:PhenotypicFeature Abnormal circulating ethanolamine concentration Any deviation from the normal concentration of ethanolamine in circulation. hp.json Abnormal ethanolamine levels in the blood http://purl.obolibrary.org/obo/HP_0500249 HP:0500246 biolink:PhenotypicFeature Increased CSF citrulline concentration Abnormally increased levels of citrulline in cerebrospinal fluid. hp.json High citrulline levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500246 HP:0500247 biolink:PhenotypicFeature Abnormal CSF alpha-aminobutyrate concentration Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. hp.json Abnormal alpha-aminobutyrate levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500247 CHEBI:58465 biolink:ChemicalSubstance dermatan sulfate polyanion The conjugate base of dermatan sulfate, obtained by deprotonation of carboxy and sulfate groups. hp.json dermatan 4'-sulfate http://purl.obolibrary.org/obo/CHEBI_58465 3_STAR HP:0500230 biolink:PhenotypicFeature Increased CSF glycine concentration Abnormally increased levels of glycine in cerebrospinal fluid. hp.json High glycine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500230 UBERON:0003649 biolink:AnatomicalEntity metacarpal bone of digit 5 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 5. EMAPA:19120|UMLS:C1711224|MA:0001368|AAO:0000855|FMA:23903|NCIT:C52792 hp.json 5 th digit of hand metacarpal|metacarpal of fifth finger|manual digit 5 metacarpus|metacarpal of hand digit 5|metacarpal bone of 5 th digit of hand|metacarpal of 5 th finger|fifth metacarpal bone|forelimb digit 5 metacarpus|metacarpal bone of fifth finger|5 th finger metacarpal|5 th finger metacarpal bone|metacarpal bone of hand digit 5|metacarpal V|metacarpal 5|finger 5 metacarpus|metacarpal bone of digit V|metacarpal bone digit 5|5 th digit of hand metacarpal bone|hand digit 5 metacarpal|fifth finger metacarpal|fifth finger metacarpal bone|metacarpal of 5 th digit of hand|hand digit 5 metacarpal bone|metacarpal bone of 5 th finger http://purl.obolibrary.org/obo/UBERON_0003649 pheno_slim GO:0008406 biolink:BiologicalProcess gonad development The process whose specific outcome is the progression of the gonad over time, from its formation to the mature structure. The gonad is an animal organ that produces gametes; in some species it also produces hormones. hp.json gonadogenesis http://purl.obolibrary.org/obo/GO_0008406 HP:0500233 biolink:PhenotypicFeature Increased CSF alanine concentration Abnormally increased levels of alanine in cerebrospinal fluid. hp.json High alanine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500233 HP:0500234 biolink:PhenotypicFeature Decreased CSF alanine concentration Abnormally decreased levels of alanine in cerebrospinal fluid. hp.json Low alanine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500234 HP:0500231 biolink:PhenotypicFeature Abnormal CSF pyruvate family amino acid concentration Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. hp.json Abnormal pyruvate-family amino acid levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500231 UBERON:0003647 biolink:AnatomicalEntity metacarpal bone of digit 3 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 3[Automatically generated definition]. UMLS:C1708989|EMAPA:19116|MA:0001366|AAO:0000854|NCIT:C52794|FMA:23901 hp.json third metacarpal bone|metacarpal of third finger|hand digit 3 metacarpal bone|metacarpal bone of 3 rd digit of hand|metacarpal of 3 rd finger|metacarpal of hand digit 3|metacarpal bone of third finger|forelimb cannon bone|3 rd finger metacarpal bone|3 rd finger metacarpal|finger 3 metacarpus|metacarpal bone of digit III|metacarpal bone of hand digit 3|forelimb digit 3 metacarpus|metacarpal 3|metacarpal bone digit 3|hand digit 3 metacarpal|metacarpal III|3 rd digit of hand metacarpal bone|third finger metacarpal bone|third finger metacarpal|metacarpal of 3 rd digit of hand|metacarpal bone of 3 rd finger|manual digit 3 metacarpus|3 rd digit of hand metacarpal http://purl.obolibrary.org/obo/UBERON_0003647 pheno_slim UBERON:0003648 biolink:AnatomicalEntity metacarpal bone of digit 4 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 4. UMLS:C1708990|EMAPA:19118|AAO:0010615|MA:0001367|NCIT:C52793|FMA:23902 hp.json 4 th digit of hand metacarpal|manual digit 4 metacarpus|fourth finger metacarpal bone|metacarpal bone of 4 th digit of hand|metacarpal of hand digit 4|metacarpal of 4 th finger|4 th finger metacarpal|metacarpal bone of hand digit 4|finger 4 metacarpus|4 th finger metacarpal bone|metacarpal 4|metacarpal bone of fourth finger|metacarpal bone digit 4|4 th digit of hand metacarpal bone|metacarpal bone of digit IV|fourth finger metacarpal|forelimb digit 4 metacarpus|hand digit 4 metacarpal|metacarpal of fourth finger|metacarpal of 4 th digit of hand|fourth metacarpal bone|metacarpal IV|hand digit 4 metacarpal bone|metacarpal bone of 4 th finger http://purl.obolibrary.org/obo/UBERON_0003648 pheno_slim HP:0500232 biolink:PhenotypicFeature Abnormal CSF alanine concentration Any deviation from the normal concentration of alanine in the cerebrospinal fluid. hp.json Abnormal alanine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500232 HP:0500237 biolink:PhenotypicFeature Decreased CSF histidine concentration Abnormally decreased levels of histidine in cerebrospinal fluid. hp.json Low histidine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500237 HP:0500238 biolink:PhenotypicFeature Abnormal CSF albumin concentration Any deviation from the normal concentration of albumin in the cerebrospinal fluid. hp.json Abnormal albumin levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500238 HP:0500235 biolink:PhenotypicFeature Abnormal CSF histidine concentration Any deviation from the normal concentration of histidine in the cerebrospinal fluid. hp.json Abnormal histidine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500235 HP:0500236 biolink:PhenotypicFeature Increased CSF histidine concentration Abnormally increased levels of histidine in cerebrospinal fluid. hp.json High histidine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500236 HP:0500239 biolink:PhenotypicFeature Increased CSF albumin concentration hp.json High albumin levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500239 UBERON:0003656 biolink:AnatomicalEntity mesopodium bone A bone that is part of a mesopodial skeleton. EMAPA:36579|MA:0000295 hp.json mesopod bone|mesopodial bone|carpal/tarsal bone|basipodium bone http://purl.obolibrary.org/obo/UBERON_0003656 UBERON:0003657 biolink:AnatomicalEntity limb joint Any joint that is part of a (free) limb. EMAPA:36501|galen:LimbJoint|MA:0000691|FMA:321558 hp.json joint of limb|joint of limb skeletal system|skeletal limb joint http://purl.obolibrary.org/obo/UBERON_0003657 grouping_class UBERON:0003654 biolink:AnatomicalEntity metatarsal bone of digit 5 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 5. NCIT:C52787|FMA:24506|MA:0001373|UMLS:C1709003|EMAPA:19131|AAO:0000929 hp.json metatarsal 5|toe 5 metatarsus|metatarsal bone digit 5|metatarsal bone of digit V|metatarsal V|toe 5 metatarsal|metatarsal bone of foot digit 5|hindlimb digit 5 metatarsus|foot digit 5 metatarsal bone|fifth metatarsal bone http://purl.obolibrary.org/obo/UBERON_0003654 pheno_slim UBERON:0003655 biolink:AnatomicalEntity molar tooth Molars are the rearmost and most complicated kind of tooth in most mammals. BTO:0001759|NCIT:C33136|FMA:55638|MA:0000350|UMLS:C0026367|CALOHA:TS-0637|EMAPA:32897|MESH:D008963 hp.json dens molaris|molar|molaris http://purl.obolibrary.org/obo/UBERON_0003655 pheno_slim UBERON:0003652 biolink:AnatomicalEntity metatarsal bone of digit 3 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 3[Automatically generated definition]. NCIT:C52789|EMAPA:19127|FMA:24504|UMLS:C1709001|MA:0001371|AAO:0000927 hp.json hindlimb digit 3 metatarsal|toe 3 metatarsus|metatarsal bone digit 3|toe 3 metatarsal|metatarsal 3|hindlimb cannon bone|metatarsal bone of foot digit 3|third metatarsal bone|metatarsal III|foot digit 3 metatarsal bone|metatarsal bone of digit III http://purl.obolibrary.org/obo/UBERON_0003652 pheno_slim UBERON:0003653 biolink:AnatomicalEntity metatarsal bone of digit 4 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 4. NCIT:C52788|EMAPA:19129|FMA:24505|UMLS:C1709002|MA:0001372|AAO:0000928 hp.json hindlimb digit 4 metatarsus|toe 4 metatarsus|metatarsal 4|metatarsal bone digit 4|toe 4 metatarsal|metatarsal bone of foot digit 4|metatarsal IV|metatarsal bone of digit IV|fourth metatarsal bone|foot digit 4 metatarsal bone http://purl.obolibrary.org/obo/UBERON_0003653 pheno_slim UBERON:0003650 biolink:AnatomicalEntity metatarsal bone of digit 1 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 1. AAO:0000925|MA:0001369|EMAPA:19123|NCIT:C52791|FMA:24502|UMLS:C1708999 hp.json foot digit 1 metatarsal bone|hallux metatarsal bone|toe 1 metatarsal|first metatarsal bone|metatarsal 1|hindlimb digit 1 metatarsus|metatarsal bone of hallux|metatarsal bone of foot digit 1|metatarsal I|metatarsal bone digit 1|toe 1 metatarsus|metatarsal bone of digit I http://purl.obolibrary.org/obo/UBERON_0003650 pheno_slim UBERON:0003651 biolink:AnatomicalEntity metatarsal bone of digit 2 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 2. AAO:0000926|EMAPA:19125|NCIT:C52790|UMLS:C1709000|FMA:24503|MA:0001370 hp.json toe 2 metatarsal|metatarsal II|metatarsal bone digit 2|metatarsal 2|metatarsal bone of digit II|metatarsal bone of foot digit 2|hindlimb digit 2 metatarsus|second metatarsal bone|toe 2 metatarsus|foot digit 2 metatarsal bone http://purl.obolibrary.org/obo/UBERON_0003651 pheno_slim UBERON:0003638 biolink:AnatomicalEntity manual digit 4 phalanx A phalanx that is part of a hand digit 4 [Automatically generated definition]. MA:0001392|UMLS:C1708316|EMAPA:19119|FMA:35486|NCIT:C52774 hp.json phalanx of ring finger|phalanx of 4 th finger|fourth finger phalanx|4 th digit of hand long bone of digit|phalanx of 4 th digit of hand|hand digit 4 phalanx|long bone of digit of hand digit 4|hand digit 4 digit long bone|hand digit 4 phalanx|fourth finger digit long bone|long bone of digit of 4 th finger|4 th finger long bone of digit|digit long bone of 4 th digit of hand|ring finger phalanx|4 th finger phalanx|phalanx of hand digit 4|digit long bone of fourth finger|fore limb digit 4 phalanx|4 th finger digit long bone|manual digit IV phalanx|digit long bone of hand digit 4|phalanx of fourth finger|4 th digit of hand phalanx|fourth finger long bone of digit|hand digit 4 long bone of digit|digit long bone of 4 th finger|4 th digit of hand digit long bone|long bone of digit of 4 th digit of hand|long bone of digit of fourth finger http://purl.obolibrary.org/obo/UBERON_0003638 pheno_slim HP:0500222 biolink:PhenotypicFeature Increased CSF tryptophan concentration Abnormally increased levels of tryptophan in cerebrospinal fluid. hp.json High tryptophan levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500222 UBERON:0003639 biolink:AnatomicalEntity manual digit 5 phalanx A phalanx that is part of a hand digit 5 [Automatically generated definition]. EMAPA:19121|MA:0001393|UMLS:C1708317|FMA:35489|NCIT:C52773 hp.json fifth finger phalanx|fifth finger long bone of digit|little finger phalanx|phalanx of fifth digit of hand|long bone of digit of 5 th digit of hand|5 th digit of hand digit long bone|phalanx of 5 th finger|5 th digit of hand long bone of digit|fifth finger digit long bone|long bone of digit of fifth finger|phalanx of manual digitus minimus|hand digit 5 phalanx|long bone of digit of hand digit 5|hand digit 5 digit long bone|phalanx of 5 th digit of hand|long bone of digit of 5 th finger|hand digit 5 phalanx|phalanx of fifth finger|5 th finger phalanx|phalanx of hand digit 5|5 th finger long bone of digit|digit long bone of 5 th digit of hand|phalanx of 5th finger|fore limb digit 5 phalanx|phalanx of little finger|digit long bone of fifth finger|digit long bone of hand digit 5|5 th finger digit long bone|manual digit V phalanx|5 th digit of hand phalanx|digit long bone of 5 th finger|hand digit 5 long bone of digit http://purl.obolibrary.org/obo/UBERON_0003639 pheno_slim HP:0500223 biolink:PhenotypicFeature Increased CSF phenylalanine concentration Abnormally increased levels of phenylalanine in cerebrospinal fluid. hp.json High phenylalanine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500223 UBERON:0003636 biolink:AnatomicalEntity manual digit 2 phalanx A phalanx that is part of a hand digit 2 [Automatically generated definition]. MA:0001390|UMLS:C1708312|NCIT:C52776|EMAPA:19115|FMA:35480 hp.json 2 nd finger long bone of digit|second finger long bone of digit|digit long bone of 2 nd digit of hand|digit long bone of second finger|digit long bone of 2 nd finger|index finger phalanx|phalanx of manual digit 2|phalanx of second finger|hand digit 2 phalanx|phalanx of 2 nd finger|hand digit 2 phalanx|hand digit 2 digit long bone|long bone of digit of hand digit 2|2 nd digit of hand long bone of digit|2 nd digit of hand phalanx|manual digit II phalanx|long bone of digit of second finger|long bone of digit of 2 nd finger|phalanx of index finger|phalanx of hand digit 2|long bone of digit of 2 nd digit of hand|2 nd digit of hand digit long bone|hand digit 2 long bone of digit|2 nd finger phalanx|fore limb digit 2 phalanx|second finger phalanx|digit long bone of hand digit 2|2 nd finger digit long bone|second finger digit long bone|phalanx of 2 nd digit of hand http://purl.obolibrary.org/obo/UBERON_0003636 pheno_slim HP:0500220 biolink:PhenotypicFeature Increased CSF tyrosine concentration Abnormally increased levels of tyrosine in cerebrospinal fluid. hp.json High tyrosine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500220 UBERON:0003637 biolink:AnatomicalEntity manual digit 3 phalanx A phalanx that is part of a hand digit 3 [Automatically generated definition]. MA:0001391|UMLS:C1708314|EMAPA:19117|NCIT:C52775|FMA:35483 hp.json long bone of digit of 3 rd digit of hand|phalanx of 3 rd finger|3 rd digit of hand digit long bone|3 rd digit of hand long bone of digit|phalanx of middle finger|long bone of digit of third finger|third finger digit long bone|long bone of digit of 3 rd finger|phalanx of 3 rd digit of hand|long bone of digit of hand digit 3|hand digit 3 phalanx|hand digit 3 phalanx|hand digit 3 digit long bone|phalanx of third finger|3 rd finger long bone of digit|3 rd finger phalanx|digit long bone of 3 rd digit of hand|manual digit III phalanx|phalanx of hand digit 3|digit long bone of third finger|middle finger phalanx|3 rd finger digit long bone|fore limb digit 3 phalanx|digit long bone of hand digit 3|hand digit 3 long bone of digit|3 rd digit of hand phalanx|digit long bone of 3 rd finger|third finger long bone of digit|third finger phalanx http://purl.obolibrary.org/obo/UBERON_0003637 pheno_slim HP:0500221 biolink:PhenotypicFeature Decreased CSF tyrosine concentration Abnormally decreased levels of tyrosine in cerebrospinal fluid. hp.json Low tyrosine levels in the cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500221 HP:0500226 biolink:PhenotypicFeature Abnormal CSF serine concentration Any deviation from the normal concentration of serine in the cerebrospinal fluid. hp.json Abnormal serine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500226 GO:0045446 biolink:BiologicalProcess endothelial cell differentiation The process in which a mesodermal, bone marrow or neural crest cell acquires specialized features of an endothelial cell, a thin flattened cell. A layer of such cells lines the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium. hp.json http://purl.obolibrary.org/obo/GO_0045446 HP:0500227 biolink:PhenotypicFeature Increased CSF serine concentration Abnormally increased levels of serine in cerebrospinal fluid. hp.json High serine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500227 HP:0500224 biolink:PhenotypicFeature Decreased CSF phenylalanine concentration Abnormally decreased levels of phenylalanine in cerebrospinal fluid. hp.json Low phenylalanine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500224 GO:0045444 biolink:BiologicalProcess fat cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. hp.json adipocyte differentiation|adipose cell differentiation|adipogenesis|adipocyte cell differentiation http://purl.obolibrary.org/obo/GO_0045444 GO:0045445 biolink:BiologicalProcess myoblast differentiation The process in which a relatively unspecialized cell acquires specialized features of a myoblast. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers. hp.json myoblast cell differentiation http://purl.obolibrary.org/obo/GO_0045445 HP:0500225 biolink:PhenotypicFeature Abnormal CSF serine family amino acid concentration Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. hp.json Abnormal serine-family amino acid levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500225 HP:0500228 biolink:PhenotypicFeature Decreased CSF serine concentration Abnormally decreased levels of serine in cerebrospinal fluid. hp.json Low serine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500228 HP:0500229 biolink:PhenotypicFeature Abnormal CSF glycine concentration Any deviation from the normal concentration of glycine in the cerebrospinal fluid. hp.json Abnormal glycine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500229 UBERON:0003645 biolink:AnatomicalEntity metacarpal bone of digit 1 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 1. AAO:0010616|UMLS:C1708987|NCIT:C52796|EMAPA:19112|MA:0001364|FMA:23899 hp.json thumb metacarpal|hand digit 1 metacarpal bone|metacarpal bone of thumb|forelimb digit 1 metacarpus|finger 1 metacarpus|metacarpal bone of first digit of hand|first metacarpal bone|metacarpal of hand digit 1|metacarpal bone of digit I|metacarpal of thumb|metacarpal of first digit of hand|hand digit 1 metacarpal|metacarpal I|thumb metacarpal bone|metacarpal bone of hand digit 1|metacarpal bone digit 1|first digit of hand metacarpal bone|metacarpal 1|manual digit 1 metacarpus|first digit of hand metacarpal http://purl.obolibrary.org/obo/UBERON_0003645 pheno_slim UBERON:0003646 biolink:AnatomicalEntity metacarpal bone of digit 2 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 2. UMLS:C1708988|NCIT:C52795|EMAPA:19114|MA:0001365|AAO:0000853|FMA:23900 hp.json hand digit 2 metacarpal bone|second metacarpal bone|metacarpal bone of second finger|metacarpal bone of 2 nd finger|finger 2 metacarpus|2 nd digit of hand metacarpal|metacarpal of hand digit 2|forelimb digit 2 metacarpus|2 nd digit of hand metacarpal bone|metacarpal of 2 nd finger|metacarpal of second finger|metacarpal bone of digit II|metacarpal bone of hand digit 2|hand digit 2 metacarpal|metacarpal of 2 nd digit of hand|second finger metacarpal bone|metacarpal II|metacarpal bone digit 2|metacarpal 2|2 nd finger metacarpal bone|metacarpal bone of 2 nd digit of hand|manual digit 2 metacarpus|2 nd finger metacarpal|second finger metacarpal http://purl.obolibrary.org/obo/UBERON_0003646 pheno_slim UBERON:0003643 biolink:AnatomicalEntity respiratory system arterial blood vessel An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. MA:0001800|EMAPA:37565 hp.json http://purl.obolibrary.org/obo/UBERON_0003643 UBERON:0003644 biolink:AnatomicalEntity kidney arterial blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. MA:0002578|EMAPA:31436 hp.json kidney arterial system http://purl.obolibrary.org/obo/UBERON_0003644 pheno_slim UBERON:0003641 biolink:AnatomicalEntity pedal digit 2 phalanx A phalanx that is part of a foot digit 2 [Automatically generated definition]. NCIT:C52779|EMAPA:19126|UMLS:C1708082|FMA:32899|MA:0001382 hp.json foot digit 2 digit long bone|hind limb digit 2 phalanx|foot digit 2 phalanx|long bone of digit of foot digit 2|foot digit 2 phalanx|foot digit 2 long bone of digit|second toe phalanx|phalanx of foot digit 2|pedal digit II phalanx|digit long bone of foot digit 2|phalanx of second toe http://purl.obolibrary.org/obo/UBERON_0003641 pheno_slim UBERON:0003642 biolink:AnatomicalEntity pedal digit 3 phalanx A phalanx that is part of a foot digit 3 [Automatically generated definition]. EMAPA:19128|FMA:32900|UMLS:C1708084|NCIT:C52780|MA:0001383 hp.json pedal digit III phalanx|long bone of digit of foot digit 3|foot digit 3 digit long bone|hind limb digit 3 phalanx|foot digit 3 phalanx|foot digit 3 phalanx|third toe phalanx|phalanx of foot digit 3|foot digit 3 long bone of digit|digit long bone of foot digit 3|phalanx of third toe http://purl.obolibrary.org/obo/UBERON_0003642 pheno_slim UBERON:0003640 biolink:AnatomicalEntity pedal digit 1 phalanx A phalanx that is part of a foot digit 1 [Automatically generated definition]. NCIT:C52778|EMAPA:19124|UMLS:C1708080|MA:0001381|FMA:32884 hp.json hallux phalanx|phalanx of great toe|long bone of digit of foot digit 1|hallux digit long bone|long bone of digit of hallux|foot digit 1 digit long bone|hind limb digit 1 phalanx|foot digit 1 phalanx|foot digit 1 long bone of digit|hallux long bone of digit|foot digit 1 phalanx|phalanx of first toe|phalanx of first digit of foot|big toe phalanx|phalanx of foot digit 1|phalanx of hallux|digit long bone of foot digit 1|digit long bone of hallux|phalanx of big toe|pedal digit I phalanx http://purl.obolibrary.org/obo/UBERON_0003640 pheno_slim CHEBI:22484 biolink:ChemicalSubstance galactosamine oligosaccharide hp.json galactosamine oligosaccharides http://purl.obolibrary.org/obo/CHEBI_22484 3_STAR HP:0500211 biolink:PhenotypicFeature Abnormal CSF threonine concentration Any deviation from the normal concentration of threonine in the cerebrospinal fluid. hp.json Abnormal threonine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500211 HP:0500212 biolink:PhenotypicFeature Increased CSF threonine concentration Abnormally increased levels of threonine in cerebrospinal fluid. hp.json High threonine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500212 UBERON:0003625 biolink:AnatomicalEntity manual digit 5 5th digit of the manus. UMLS:C0230403|NCIT:C52838|MA:0000458|EHDAA2:0000535|FMA:24949|AAO:0010643|EMAPA:17441 hp.json manus digiti minimi|little finger|fore limb digit 5|digit 5 of fore-paw|manual digit V|fore digit V|fifth finger|finger 5|fifth digit of hand|hand digit 5|manual digitus V|5th finger|manual digitus minimus|hand digit 5|5th digit of hand|manus quintus http://purl.obolibrary.org/obo/UBERON_0003625 pheno_slim HP:0500210 biolink:PhenotypicFeature Increased CSF methionine concentration Abnormally increased levels of methionine in cerebrospinal fluid. hp.json High methionine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500210 HP:0500215 biolink:PhenotypicFeature Abnormal CSF phenylalanine concentration Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. hp.json Abnormal phenylalanine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500215 HP:0500216 biolink:PhenotypicFeature Abnormal CSF aspartate concentration Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid. hp.json Abnormal CSF aspartic acid concentration|Abnormal aspartic acid levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500216 HP:0500213 biolink:PhenotypicFeature Decreased CSF threonine concentration Abnormally decreased levels of threonine in cerebrospinal fluid. hp.json Low threonine levels in the cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500213 HP:0500214 biolink:PhenotypicFeature Abnormal CSF aromatic amino acid concentration Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. hp.json Abnormal aromatic amino acid levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500214 HP:0500219 biolink:PhenotypicFeature Abnormal CSF tyrosine concentration Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. hp.json Abnormal tyrosine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500219 GO:0045453 biolink:BiologicalProcess bone resorption The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. Wikipedia:Bone_resorption hp.json http://purl.obolibrary.org/obo/GO_0045453 CHEBI:22483 biolink:ChemicalSubstance amino oligosaccharide hp.json amino oligosaccharides http://purl.obolibrary.org/obo/CHEBI_22483 3_STAR HP:0500217 biolink:PhenotypicFeature Increased CSF aspartate concentration Abnormally increased levels of aspartic acid in cerebrospinal fluid. hp.json Increased CSF aspartic acid concentration|High aspartic acid levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500217 CHEBI:22480 biolink:ChemicalSubstance amino disaccharide A disaccharide derivative that is a disaccharide having one or more substituted or unsubstituted amino groups in place of hydroxy groups at unspecified positions. hp.json amino-disaccharides http://purl.obolibrary.org/obo/CHEBI_22480 3_STAR HP:0500218 biolink:PhenotypicFeature Abnormal CSF tryptophan concentration Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid. hp.json Abnormal tryptophan levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500218 UBERON:0003634 biolink:AnatomicalEntity pedal digit 4 4th digit of the hind autopod. UMLS:C1708085|EHDAA2:0002052|EMAPA:17469|BTO:0002352|MA:0000468|NCIT:C52842|AAO:0010656|FMA:25052 hp.json hind digit 4|fourth digit of foot|digitus quartus [iv]|pedal digit IV|pes digit IV|4th toe|foot digit 4|digitus quartus (IV) pedis|hind digit IV|toe 4|foot digit 4|hind limb digit 4|fourth toe|digitus quartis pedis|digit 4 of hind-paw http://purl.obolibrary.org/obo/UBERON_0003634 pheno_slim UBERON:0003635 biolink:AnatomicalEntity pedal digit 5 5th digit of the hind autopod. EHDAA2:0002057|UMLS:C1708087|BTO:0002353|NCIT:C52843|MA:0000469|AAO:0010658|FMA:25053|EMAPA:17472 hp.json digitus minimus; digitus quintus [v]|pedal digitus minimus|hind digit 5|fifth toe|little toe|digitus minimus pedis|digitus V of pes|digit 5 of hind-paw|5th toe|digitus quintus (V) pedis|fifth digit of foot|digitus quintus of pes|pes digit V|foot digit 5|foot digit 5|hind limb digit 5|hind digit V|digitus quintus [V]|digitus quintus [V] pedis|digitus quintus pedis|toe 5|pedal digit V http://purl.obolibrary.org/obo/UBERON_0003635 pheno_slim UBERON:0003632 biolink:AnatomicalEntity pedal digit 2 2nd digit of the hind autopod. EHDAA2:0002042|UMLS:C1708081|FMA:25048|BTO:0002350|MA:0000466|NCIT:C52840|AAO:0010645|EMAPA:17463 hp.json hind digit 2|pedal digit II|pes digit II|digitus secundus [ii]|2nd toe|digitus secundus pedis|hind digit II|foot digit 2|digit 2 of hind-paw|second toe|digitus secundus (II) pedis|toe 2|hind limb digit 2|foot digit 2|second digit of foot http://purl.obolibrary.org/obo/UBERON_0003632 pheno_slim UBERON:0003633 biolink:AnatomicalEntity pedal digit 3 3rd digit of the hind autopod. UMLS:C1708083|BTO:0002351|NCIT:C52841|MA:0000467|AAO:0010646|EMAPA:17466|FMA:25051|EHDAA2:0002047 hp.json toe 3|digitus tertius [iii]|hind digit 3|digitus tertius pedis|pes digit III|third digit of foot|digitus tertius (III) pedis|hind digit III|foot digit 3|3rd toe|digit 3 of hind-paw|pedal digit III|foot digit 3|hind limb digit 3|third toe http://purl.obolibrary.org/obo/UBERON_0003633 pheno_slim UBERON:0003631 biolink:AnatomicalEntity pedal digit 1 1st digit of the hind autopod. VSAO:0000201|FMA:25047|MA:0000465|AAO:0010644|UMLS:C1708079|BTO:0002349|EHDAA2:0002037|NCIT:C52839|EMAPA:17460|GAID:45|MESH:D006214 hp.json digit 1 of pes|digitus primus pedis|hallux|hind digit 1|pes digit I|toe 1|hind digit I|foot digit 1|digit 1 of hind-paw|first toe|big toe|digitus primus (I) pedis|pedal digit I|hallex|hindlimb dewclaw|hallux; digitus primus [I]|hind limb digit 1|foot digit 1|large toe|great toe|preaxial digit of hindlimb|pedal digit 1 http://purl.obolibrary.org/obo/UBERON_0003631 pheno_slim CHEBI:22495 biolink:ChemicalSubstance aminobenzoic acid hp.json Aminobenzoesaeure|aminobenzoic acid http://purl.obolibrary.org/obo/CHEBI_22495 3_STAR UBERON:0003618 biolink:AnatomicalEntity aorta tunica media The middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers. FMA:74433|MA:0002903|EMAPA:35138|SCTID:48467007 hp.json tunica media of aorta|trunk of aortic tree tunica media|dorsal aorta tunica media|tunica media of adult aorta|adult aorta tunica media|tunica media of dorsal aorta|tunica media of trunk of aortic tree http://purl.obolibrary.org/obo/UBERON_0003618 pheno_slim UBERON:0003619 biolink:AnatomicalEntity aorta tunica intima The innermost layer of the aorta, containing the endothelium and an inner elastic membrane. SCTID:362031007|MA:0002904|EMAPA:35137|BTO:0005553|FMA:74419 hp.json tunica intima of adult aorta|dorsal aorta tunica intima|trunk of aortic tree tunica intima|tunica intima of dorsal aorta|tunica intima of aorta|tunica intima of trunk of aortic tree|adult aorta tunica intima http://purl.obolibrary.org/obo/UBERON_0003619 pheno_slim UBERON:0003616 biolink:AnatomicalEntity bronchus elastic tissue An elastic tissue that is part of a bronchus [Automatically generated definition]. MA:0001838|NCIT:C49211|UMLS:C1707053 hp.json bronchial trunk elastic tissue|elastic tissue of bronchi|elastic tissue of bronchial trunk|elastic tissue of bronchus|bronchi elastic tissue|textus connectivus elasticus of bronchi|textus connectivus elasticus of bronchial trunk|elastic connective tissue of bronchus|bronchus textus connectivus elasticus|bronchi elastic connective tissue|bronchial trunk elastic connective tissue|elastic connective tissue of bronchi|bronchial trunk textus connectivus elasticus|elastic connective tissue of bronchial trunk|bronchus elastic connective tissue|textus connectivus elasticus of bronchus|bronchi textus connectivus elasticus http://purl.obolibrary.org/obo/UBERON_0003616 HP:0500200 biolink:PhenotypicFeature Increased CSF glutamate concentration Abnormally increased levels of glutamic acid in cerebrospinal fluid. hp.json High glutamic acid levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500200 UBERON:0003617 biolink:AnatomicalEntity trachea elastic tissue An elastic tissue that is part of a trachea [Automatically generated definition]. MA:0001861 hp.json windpipe textus connectivus elasticus|cartilaginous trachea elastic tissue|elastic connective tissue of windpipe|elastic tissue of vertebrate trachea|elastic tissue of cartilaginous trachea|windpipe elastic tissue|textus connectivus elasticus of cartilaginous trachea|elastic connective tissue of vertebrate trachea|textus connectivus elasticus of windpipe|windpipe elastic connective tissue|vertebrate trachea textus connectivus elasticus|cartilaginous trachea textus connectivus elasticus|elastic tissue of windpipe|cartilaginous trachea elastic connective tissue|vertebrate trachea elastic tissue|vertebrate trachea elastic connective tissue|textus connectivus elasticus of vertebrate trachea|elastic connective tissue of cartilaginous trachea http://purl.obolibrary.org/obo/UBERON_0003617 HP:0500201 biolink:PhenotypicFeature Decreased CSF glutamate concentration Abnormally decreased levels of glutamic acid in cerebrospinal fluid. hp.json Low glutamic acid levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500201 UBERON:0003614 biolink:AnatomicalEntity blood vessel elastic tissue Elastic tissue layer that lines a blood vessel layer. MA:0002856|EMAPA:36300 hp.json blood vessel elastic connective tissue|elastic laminae|textus connectivus elasticus of blood vessel|elastic lamina|blood vessel textus connectivus elasticus|elastic tissue of blood vessel|vascular elastic laminae|vascular elastic laminae|vascular elastic lamina|elastic connective tissue of blood vessel|vascular elastic lamina|vascular elastic tissue http://purl.obolibrary.org/obo/UBERON_0003614 pheno_slim UBERON:0003615 biolink:AnatomicalEntity lung elastic tissue Elastic tissue that is part of a lung [Automatically generated definition]. MA:0002860 hp.json elastic tissue of lung|elastic connective tissue of lung|lung textus connectivus elasticus|pulmonary elastic fiber|lung elastic connective tissue|pulmonary elastic fiber|textus connectivus elasticus of lung http://purl.obolibrary.org/obo/UBERON_0003615 HP:0500204 biolink:PhenotypicFeature Decreased CSF arginine concentration Abnormally decreased levels of arginine in cerebrospinal fluid. hp.json Low arginine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500204 HP:0500205 biolink:PhenotypicFeature Abnormal CSF aspartate family amino acid concentration Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. hp.json Abnormal aspartate-family amino acid levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500205 HP:0500202 biolink:PhenotypicFeature Abnormal CSF arginine concentration Any deviation from the normal concentration of arginine in the cerebrospinal fluid. hp.json Abnormal arginine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500202 HP:0500203 biolink:PhenotypicFeature Increased CSF arginine concentration Abnormally increased levels of arginine in cerebrospinal fluid. hp.json High arginine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500203 HP:0500208 biolink:PhenotypicFeature Increased CSF lysine concentration Abnormally increased levels of lysine in cerebrospinal fluid. hp.json High lysine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500208 HP:0500209 biolink:PhenotypicFeature Abnormal CSF methionine concentration Any deviation from the normal concentration of methionine in the cerebrospinal fluid. hp.json Abnormal methionine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500209 CHEBI:22494 biolink:ChemicalSubstance aminobenzoate hp.json aminobenzoates http://purl.obolibrary.org/obo/CHEBI_22494 3_STAR HP:0500206 biolink:PhenotypicFeature Abnormal CSF lysine concentration Any deviation from the normal concentration of lysine in the cerebrospinal fluid. hp.json Abnormal lysine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500206 HP:0500207 biolink:PhenotypicFeature Decreased CSF lysine concentration Abnormally decreased levels of lysine in cerebrospinal fluid. hp.json Low lysine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500207 GO:0070405 biolink:MolecularActivity ammonium ion binding Binding to ammonium ions (NH4+). hp.json ammonium binding http://purl.obolibrary.org/obo/GO_0070405 UBERON:0003623 biolink:AnatomicalEntity manual digit 3 3rd digit of the manus. NCIT:C52836|UMLS:C0230393|EMAPA:17435|MA:0000456|EHDAA2:0000523|FMA:24947|AAO:0010641 hp.json middle finger|long finger|3rd digit of hand|manual digit III|fore limb digit 3|3rd finger|third digit of hand|digitus medius|third finger|hand digit 3|finger 3|digit 3 of fore-paw|hand digit 3|fore digit III http://purl.obolibrary.org/obo/UBERON_0003623 pheno_slim UBERON:0003624 biolink:AnatomicalEntity manual digit 4 4th digit of the manus. UMLS:C0230398|NCIT:C52837|EMAPA:17438|EHDAA2:0000529|MA:0000457|FMA:24948|AAO:0010642 hp.json fore limb digit 4|manual digit IV|fourth digit of hand|hand digit 4|4th finger|fourth finger|ring finger|digitus annularis|digit 4 of fore-paw|hand digit 4|4th digit of hand|fore digit IV|finger 4 http://purl.obolibrary.org/obo/UBERON_0003624 pheno_slim UBERON:0003622 biolink:AnatomicalEntity manual digit 2 2nd digit of the manus. AAO:0010640|NCIT:C52835|EHDAA2:0000517|MA:0000455|EMAPA:17432|UMLS:C0230388|FMA:24946 hp.json fore limb digit 2|second finger|hand digit 2|second digit of hand|digit 2 of fore-paw|fore digit II|2nd finger|2nd digit of hand|index finger|hand digit 2|finger 2|manual digit II http://purl.obolibrary.org/obo/UBERON_0003622 pheno_slim UBERON:0003620 biolink:AnatomicalEntity manual digit 1 phalanx A phalanx that is part of a hand digit 1 [Automatically generated definition]. FMA:35477|NCIT:C52777|MA:0001389|EMAPA:19113|UMLS:C1711344 hp.json phalanx of thumb|hand digit 1 phalanx|manual digit I phalanx|phalanx of hand digit 1|thumb phalanx|fore limb digit 1 phalanx|hand digit 1 phalanx http://purl.obolibrary.org/obo/UBERON_0003620 pheno_slim HP:0030572 biolink:PhenotypicFeature Pinhole visual acuity 0.4 LogMAR UMLS:C4073045 hp.json http://purl.obolibrary.org/obo/HP_0030572 HP:0030573 biolink:PhenotypicFeature Pinhole visual acuity 0.5 LogMAR UMLS:C4073046 hp.json http://purl.obolibrary.org/obo/HP_0030573 HP:0030574 biolink:PhenotypicFeature Pinhole visual acuity 0.6 LogMAR UMLS:C4073047 hp.json http://purl.obolibrary.org/obo/HP_0030574 HP:0030575 biolink:PhenotypicFeature Pinhole visual acuity 0.7 LogMAR UMLS:C4073048 hp.json http://purl.obolibrary.org/obo/HP_0030575 HP:0030570 biolink:PhenotypicFeature Pinhole visual acuity 0.2 LogMAR UMLS:C4073043 hp.json http://purl.obolibrary.org/obo/HP_0030570 HP:0030571 biolink:PhenotypicFeature Pinhole visual acuity 0.3 LogMAR UMLS:C4073044 hp.json http://purl.obolibrary.org/obo/HP_0030571 HP:0030576 biolink:PhenotypicFeature Pinhole visual acuity 0.8 LogMAR UMLS:C4073049 hp.json http://purl.obolibrary.org/obo/HP_0030576 HP:0030577 biolink:PhenotypicFeature Pinhole visual acuity 0.9 LogMAR UMLS:C4073050 hp.json http://purl.obolibrary.org/obo/HP_0030577 HP:0030578 biolink:PhenotypicFeature Pinhole visual acuity 1.0 LogMAR UMLS:C4073051 hp.json http://purl.obolibrary.org/obo/HP_0030578 HP:0030579 biolink:PhenotypicFeature Pinhole visual acuity 1.1 LogMAR UMLS:C4073052 hp.json http://purl.obolibrary.org/obo/HP_0030579 GO:0033483 biolink:BiologicalProcess gas homeostasis A homeostatic process involved in the maintenance of an internal steady state of a gas within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0033483 HP:0030583 biolink:PhenotypicFeature Pinhole visual acuity 3.0 LogMAR UMLS:C4073056 hp.json http://purl.obolibrary.org/obo/HP_0030583 HP:0030584 biolink:PhenotypicFeature Color vision test abnormality UMLS:C4073057 hp.json Colour vision test abnormality http://purl.obolibrary.org/obo/HP_0030584 HP:0030585 biolink:PhenotypicFeature Red desaturation UMLS:C4073058 hp.json http://purl.obolibrary.org/obo/HP_0030585 HP:0030586 biolink:PhenotypicFeature Abnormal Ishihara plate test UMLS:C4073059 hp.json http://purl.obolibrary.org/obo/HP_0030586 HP:0030580 biolink:PhenotypicFeature Pinhole visual acuity 1.2 LogMAR UMLS:C4073053 hp.json http://purl.obolibrary.org/obo/HP_0030580 HP:0030581 biolink:PhenotypicFeature Pinhole visual acuity 1.3 LogMAR UMLS:C4073054 hp.json http://purl.obolibrary.org/obo/HP_0030581 HP:0030582 biolink:PhenotypicFeature Pinhole visual acuity 2.0 LogMAR UMLS:C4073055 hp.json http://purl.obolibrary.org/obo/HP_0030582 HP:0030587 biolink:PhenotypicFeature Abnormal Hardy-Rand-Rittler plate test UMLS:C4073060 hp.json http://purl.obolibrary.org/obo/HP_0030587 HP:0030588 biolink:PhenotypicFeature Abnormal visual field test Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field. UMLS:C0854021 hp.json http://purl.obolibrary.org/obo/HP_0030588 HP:0030589 biolink:PhenotypicFeature Abnormal confrontational visual field test UMLS:C4073061 hp.json http://purl.obolibrary.org/obo/HP_0030589 HP:0030594 biolink:PhenotypicFeature Abnormal automated kinetic perimetry test UMLS:C4073066 hp.json http://purl.obolibrary.org/obo/HP_0030594 HP:0030595 biolink:PhenotypicFeature Abnormal static automated perimetry test UMLS:C4073067 hp.json http://purl.obolibrary.org/obo/HP_0030595 HP:0030596 biolink:PhenotypicFeature Abnormal Humphrey SITA 30-2 perimetry test UMLS:C4073068 hp.json http://purl.obolibrary.org/obo/HP_0030596 HP:0030597 biolink:PhenotypicFeature Abnormal Humphrey SITA 24-2 perimetry test UMLS:C4073069 hp.json http://purl.obolibrary.org/obo/HP_0030597 HP:0030590 biolink:PhenotypicFeature Abnormal Amsler grid test UMLS:C4073062 hp.json http://purl.obolibrary.org/obo/HP_0030590 HP:0030591 biolink:PhenotypicFeature Abnormal kinetic perimetry test UMLS:C4073063 hp.json http://purl.obolibrary.org/obo/HP_0030591 HP:0030592 biolink:PhenotypicFeature Abnormal static perimetry test UMLS:C4073064 hp.json http://purl.obolibrary.org/obo/HP_0030592 HP:0030593 biolink:PhenotypicFeature Abnormal manual kinetic perimetry test UMLS:C4073065 hp.json http://purl.obolibrary.org/obo/HP_0030593 HP:0030598 biolink:PhenotypicFeature Abnormal Humphrey SITA 10-2 perimetry test UMLS:C4073070 hp.json http://purl.obolibrary.org/obo/HP_0030598 HP:0005587 biolink:PhenotypicFeature Profuse pigmented skin lesions UMLS:C1834424 hp.json http://purl.obolibrary.org/obo/HP_0005587 HP:0005588 biolink:PhenotypicFeature Patchy palmoplantar hyperkeratosis A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. UMLS:C4021633 hp.json Palmoplantar keratoderma, patchy|Patchy palmoplantar keratoderma http://purl.obolibrary.org/obo/HP_0005588 HP:0030599 biolink:PhenotypicFeature Abnormal Estermann grid perimetry test UMLS:C4073071 hp.json http://purl.obolibrary.org/obo/HP_0030599 HP:0005583 biolink:PhenotypicFeature Tubular basement membrane disintegration DIsruption and breaking up of the basement membrane of the tubules of the kidney. UMLS:C1968618 hp.json Disintegration of the tubular basement membrane http://purl.obolibrary.org/obo/HP_0005583 HP:0005584 biolink:PhenotypicFeature Renal cell carcinoma A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. UMLS:C0007134|SNOMEDCT_US:41607009|SNOMEDCT_US:702391001|NCIT:C2916|MSH:D002292 hp.json Hypernephroma|Cancer starting in small tubes in kidneys|Renal carcinoma http://purl.obolibrary.org/obo/HP_0005584 HP:0005585 biolink:PhenotypicFeature Spotty hyperpigmentation UMLS:C3806179 hp.json Spotty increased pigmentation|Patchy hyperpigmentation http://purl.obolibrary.org/obo/HP_0005585 HP:0005586 biolink:PhenotypicFeature Hyperpigmentation in sun-exposed areas UMLS:C3805877 hp.json Increased pigmentation in sun-exposed areas|Hyperpigmentation of exposed areas http://purl.obolibrary.org/obo/HP_0005586 HP:0005580 biolink:PhenotypicFeature Duplication of renal pelvis A duplication of the renal pelvis. UMLS:C1839269 hp.json http://purl.obolibrary.org/obo/HP_0005580 HP:0005598 biolink:PhenotypicFeature Facial telangiectasia in butterfly midface distribution Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. UMLS:C4021632 hp.json Butterfly facial telangiectasia http://purl.obolibrary.org/obo/HP_0005598 HP:0005599 biolink:PhenotypicFeature Hypopigmentation of hair UMLS:C3278401 hp.json Loss of hair colour|Loss of hair color|Hair hypopigmentation http://purl.obolibrary.org/obo/HP_0005599 hposlim_core HP:0005595 biolink:PhenotypicFeature Generalized hyperkeratosis UMLS:C1969913 hp.json Hyperkeratosis, generalised|Generalised hyperkeratosis|Hyperkeratosis, generalized http://purl.obolibrary.org/obo/HP_0005595 HP:0005597 biolink:PhenotypicFeature Congenital alopecia totalis Loss of all scalp hair with congenital onset. UMLS:C4025175 hp.json http://purl.obolibrary.org/obo/HP_0005597 HP:0005590 biolink:PhenotypicFeature Spotty hypopigmentation UMLS:C3806178 hp.json Patchy hypopigmentation|Patchy depigmentation|Spotty decreased pigmentation http://purl.obolibrary.org/obo/HP_0005590 HP:0005592 biolink:PhenotypicFeature Giant melanosomes in melanocytes The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. UMLS:C3806221 hp.json Macromelanosomes http://purl.obolibrary.org/obo/HP_0005592 HP:0005593 biolink:PhenotypicFeature Macular hypopigmented whorls, streaks, and patches UMLS:C3806616 hp.json http://purl.obolibrary.org/obo/HP_0005593 HP:0030530 biolink:PhenotypicFeature Arcuate scotoma UMLS:C0271198|MSH:D012607|UMLS:C4280302|SNOMEDCT_US:15462009 hp.json Arc-shaped blind spot http://purl.obolibrary.org/obo/HP_0030530 HP:0030531 biolink:PhenotypicFeature Altitudinal visual field defect UMLS:C4073005 hp.json http://purl.obolibrary.org/obo/HP_0030531 GO:0008483 biolink:MolecularActivity transaminase activity Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid. Reactome:R-HSA-1237102|EC:2.6.1.- hp.json aminotransferase activity http://purl.obolibrary.org/obo/GO_0008483 HP:0030536 biolink:PhenotypicFeature Unaided visual acuity 0.1 LogMAR UMLS:C4073010 hp.json http://purl.obolibrary.org/obo/HP_0030536 HP:0030537 biolink:PhenotypicFeature Unaided visual acuity 0.2 LogMAR UMLS:C4073011 hp.json http://purl.obolibrary.org/obo/HP_0030537 HP:0030538 biolink:PhenotypicFeature Unaided visual acuity 0.3 LogMAR UMLS:C4073012 hp.json http://purl.obolibrary.org/obo/HP_0030538 HP:0030539 biolink:PhenotypicFeature Unaided visual acuity 0.4 LogMAR UMLS:C4073013 hp.json http://purl.obolibrary.org/obo/HP_0030539 HP:0030532 biolink:PhenotypicFeature Visual acuity test abnormality UMLS:C4073006 hp.json http://purl.obolibrary.org/obo/HP_0030532 HP:0030533 biolink:PhenotypicFeature Abnormal unaided visual acuity test UMLS:C4073007 hp.json http://purl.obolibrary.org/obo/HP_0030533 HP:0030534 biolink:PhenotypicFeature Abnormal best corrected visual acuity test UMLS:C4073008 hp.json http://purl.obolibrary.org/obo/HP_0030534 HP:0030535 biolink:PhenotypicFeature Abnormal pinhole visual acuity test UMLS:C4073009 hp.json http://purl.obolibrary.org/obo/HP_0030535 CHEBI:138141 biolink:ChemicalSubstance 17alpha-hydroxy-C21-steroid Any C21-steroid carrying a hydroxy substituent at the 17alpha-position. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure. MetaCyc:17a-hydroxy-C21-steroids hp.json a 17alpha-hydroxy-C21-steroid http://purl.obolibrary.org/obo/CHEBI_138141 3_STAR HP:0030540 biolink:PhenotypicFeature Unaided visual acuity 0.5 LogMAR UMLS:C4073014 hp.json http://purl.obolibrary.org/obo/HP_0030540 HP:0030541 biolink:PhenotypicFeature Unaided visual acuity 0.6 LogMAR UMLS:C4073015 hp.json http://purl.obolibrary.org/obo/HP_0030541 HP:0030542 biolink:PhenotypicFeature Unaided visual acuity 0.7 LogMAR UMLS:C4073016 hp.json http://purl.obolibrary.org/obo/HP_0030542 HP:0030547 biolink:PhenotypicFeature Unaided visual acuity 1.2 LogMAR UMLS:C4073021 hp.json http://purl.obolibrary.org/obo/HP_0030547 HP:0030548 biolink:PhenotypicFeature Unaided visual acuity 1.3 LogMAR UMLS:C4073022 hp.json http://purl.obolibrary.org/obo/HP_0030548 PR:000009758 biolink:Protein leptin A protein that is a translation product of the human LEP gene or a 1:1 ortholog thereof. hp.json OB|LEP|obese protein|OBS|obesity factor http://purl.obolibrary.org/obo/PR_000009758 HP:0030549 biolink:PhenotypicFeature Unaided visual acuity 2.0 LogMAR UMLS:C4073023 hp.json http://purl.obolibrary.org/obo/HP_0030549 HP:0030543 biolink:PhenotypicFeature Unaided visual acuity 0.8 LogMAR UMLS:C4073017 hp.json http://purl.obolibrary.org/obo/HP_0030543 HP:0030544 biolink:PhenotypicFeature Unaided visual acuity 0.9 LogMAR UMLS:C4073018 hp.json http://purl.obolibrary.org/obo/HP_0030544 HP:0030545 biolink:PhenotypicFeature Unaided visual acuity 1.0 LogMAR UMLS:C4073019 hp.json http://purl.obolibrary.org/obo/HP_0030545 HP:0030546 biolink:PhenotypicFeature Unaided visual acuity 1.1 LogMAR UMLS:C4073020 hp.json http://purl.obolibrary.org/obo/HP_0030546 HP:0030550 biolink:PhenotypicFeature Unaided visual acuity 3.0 LogMAR UMLS:C4073024 hp.json http://purl.obolibrary.org/obo/HP_0030550 HP:0030551 biolink:PhenotypicFeature Visual acuity light perception with projection UMLS:C4073025 hp.json http://purl.obolibrary.org/obo/HP_0030551 HP:0030552 biolink:PhenotypicFeature Visual acuity light perception without projection UMLS:C4073026 hp.json http://purl.obolibrary.org/obo/HP_0030552 HP:0030553 biolink:PhenotypicFeature Visual acuity no light perception SNOMEDCT_US:63063006|UMLS:C0442774 hp.json http://purl.obolibrary.org/obo/HP_0030553 HP:0030558 biolink:PhenotypicFeature Best corrected visual acuity 0.5 LogMAR UMLS:C4073031 hp.json http://purl.obolibrary.org/obo/HP_0030558 HP:0030559 biolink:PhenotypicFeature Best corrected visual acuity 0.7 LogMAR UMLS:C4073032 hp.json http://purl.obolibrary.org/obo/HP_0030559 HP:0030554 biolink:PhenotypicFeature Best corrected visual acuity 0.1 LogMAR UMLS:C4073027 hp.json http://purl.obolibrary.org/obo/HP_0030554 HP:0030555 biolink:PhenotypicFeature Best corrected visual acuity 0.2 LogMAR UMLS:C4073028 hp.json http://purl.obolibrary.org/obo/HP_0030555 HP:0030556 biolink:PhenotypicFeature Best corrected visual acuity 0.3 LogMAR UMLS:C4073029 hp.json http://purl.obolibrary.org/obo/HP_0030556 HP:0030557 biolink:PhenotypicFeature Best corrected visual acuity 0.4 LogMAR UMLS:C4073030 hp.json http://purl.obolibrary.org/obo/HP_0030557 HP:0030561 biolink:PhenotypicFeature Best corrected visual acuity 0.8 LogMAR UMLS:C4073034 hp.json http://purl.obolibrary.org/obo/HP_0030561 HP:0030562 biolink:PhenotypicFeature Best corrected visual acuity 0.9 LogMAR UMLS:C4073035 hp.json http://purl.obolibrary.org/obo/HP_0030562 HP:0030563 biolink:PhenotypicFeature Best corrected visual acuity 1.0 LogMAR UMLS:C4073036 hp.json http://purl.obolibrary.org/obo/HP_0030563 HP:0030564 biolink:PhenotypicFeature Best corrected visual acuity 1.1 LogMAR UMLS:C4073037 hp.json http://purl.obolibrary.org/obo/HP_0030564 HP:0030560 biolink:PhenotypicFeature Best corrected visual acuity 0.6 LogMAR UMLS:C4073033 hp.json http://purl.obolibrary.org/obo/HP_0030560 GO:0008482 biolink:MolecularActivity sulfite oxidase activity Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate. MetaCyc:SULFITE-OXIDASE-RXN|EC:1.8.3.1|MetaCyc:PWY-5326|KEGG_REACTION:R00533|RHEA:24600|Reactome:R-HSA-1614544 hp.json sulphite oxidase activity|sulfite:oxygen oxidoreductase activity http://purl.obolibrary.org/obo/GO_0008482 HP:0030569 biolink:PhenotypicFeature Pinhole visual acuity 0.1 LogMAR UMLS:C4073042 hp.json http://purl.obolibrary.org/obo/HP_0030569 HP:0030565 biolink:PhenotypicFeature Best corrected visual acuity 1.2 LogMAR UMLS:C4073038 hp.json http://purl.obolibrary.org/obo/HP_0030565 HP:0030566 biolink:PhenotypicFeature Best corrected visual acuity 1.3 LogMAR UMLS:C4073039 hp.json http://purl.obolibrary.org/obo/HP_0030566 HP:0030567 biolink:PhenotypicFeature Best corrected visual acuity 2.0 LogMAR UMLS:C4073040 hp.json http://purl.obolibrary.org/obo/HP_0030567 HP:0030568 biolink:PhenotypicFeature Best corrected visual acuity 3.0 LogMAR UMLS:C4073041 hp.json http://purl.obolibrary.org/obo/HP_0030568 CHEBI:138131 biolink:ChemicalSubstance Delta(5),Delta(7)-sterol Any sterol containing two double bonds between positions 5-6 and 7-8. MetaCyc:Delta5-Delta7-Steroids hp.json a Delta(5),Delta(7)-sterol http://purl.obolibrary.org/obo/CHEBI_138131 3_STAR OBO:MAXO_0000340 biolink:NamedThing biopsy of breast Removal of tissue from the breast. hp.json breast biopsy http://purl.obolibrary.org/obo/MAXO_0000340 OBO:MAXO_0000343 biolink:NamedThing biopsy of cardiac ventricle Removal of tissue from the cardiac ventricle. hp.json cardiac ventricle biopsy http://purl.obolibrary.org/obo/MAXO_0000343 OBO:MAXO_0000344 biolink:NamedThing biopsy of cerebellum Removal of tissue from the cerebellum. hp.json cerebellum biopsy http://purl.obolibrary.org/obo/MAXO_0000344 OBO:MAXO_0000341 biolink:NamedThing biopsy of bronchus Removal of tissue from the bronchus. hp.json bronchus biopsy http://purl.obolibrary.org/obo/MAXO_0000341 OBO:MAXO_0000342 biolink:NamedThing biopsy of caecum Removal of tissue from the caecum. hp.json caecum biopsy http://purl.obolibrary.org/obo/MAXO_0000342 HP:0005525 biolink:PhenotypicFeature Spontaneous hemolytic crises UMLS:C4025184 hp.json http://purl.obolibrary.org/obo/HP_0005525 HP:0005526 biolink:PhenotypicFeature Lymphoid leukemia A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. UMLS:C0023448|MSH:D007945|SNOMEDCT_US:32280000|SNOMEDCT_US:188725004 hp.json Lymphoid leukaemia http://purl.obolibrary.org/obo/HP_0005526 HP:0005527 biolink:PhenotypicFeature Reduced kininogen activity Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade. MSH:C537060|UMLS:C0272340|SNOMEDCT_US:27312002 hp.json Williams factor deficiency|Fitzgerald factor deficiency|Kininogen deficiency|Williams-Fitzgerald-Flaujeac factor deficiency http://purl.obolibrary.org/obo/HP_0005527 HP:0005528 biolink:PhenotypicFeature Bone marrow hypocellularity A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. UMLS:C1855710 hp.json Bone marrow hypoplasia|Bone marrow failure|Hypoplastic bone marrow http://purl.obolibrary.org/obo/HP_0005528 HP:0005521 biolink:PhenotypicFeature Disseminated intravascular coagulation Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. MSH:D004211|UMLS:C0012739|SNOMEDCT_US:67406007 hp.json http://purl.obolibrary.org/obo/HP_0005521 HP:0005522 biolink:PhenotypicFeature Pyridoxine-responsive sideroblastic anemia A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. SNOMEDCT_US:25443007|SNOMEDCT_US:191260004|UMLS:C0272027 hp.json Pyridoxine-responsive sideroblastic anaemia http://purl.obolibrary.org/obo/HP_0005522 UBERON:3000961 biolink:AnatomicalEntity external integument structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. hp.json http://purl.obolibrary.org/obo/UBERON_3000961 HP:0005523 biolink:PhenotypicFeature Lymphoproliferative disorder UMLS:C0024314|SNOMEDCT_US:414629003|MSH:D008232|SNOMEDCT_US:84631004|SNOMEDCT_US:277466009|SNOMEDCT_US:77121009 hp.json Lymphoproliferative disorders http://purl.obolibrary.org/obo/HP_0005523 HP:0005524 biolink:PhenotypicFeature Macrocytic hemolytic disease UMLS:C4025185 hp.json http://purl.obolibrary.org/obo/HP_0005524 OBO:MAXO_0000347 biolink:NamedThing biopsy of chordate pharynx Removal of tissue from the chordate pharynx. hp.json chordate pharynx biopsy http://purl.obolibrary.org/obo/MAXO_0000347 OBO:MAXO_0000348 biolink:NamedThing biopsy of choroid plexus Removal of tissue from the choroid plexus. hp.json choroid plexus biopsy http://purl.obolibrary.org/obo/MAXO_0000348 OBO:MAXO_0000345 biolink:NamedThing biopsy of cerebral cortex Removal of tissue from the cerebral cortex. hp.json cerebral cortex biopsy http://purl.obolibrary.org/obo/MAXO_0000345 OBO:MAXO_0000346 biolink:NamedThing biopsy of chest wall Removal of tissue from the chest wall. hp.json chest wall biopsy http://purl.obolibrary.org/obo/MAXO_0000346 HP:0005520 biolink:PhenotypicFeature Chronic disseminated intravascular coagulation A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced. UMLS:C1862184 hp.json Chronic consumption coagulopathy|Compensated disseminated intravascular coagulation http://purl.obolibrary.org/obo/HP_0005520 OBO:MAXO_0000349 biolink:NamedThing biopsy of cochlea Removal of tissue from the cochlea. hp.json cochlea biopsy http://purl.obolibrary.org/obo/MAXO_0000349 GO:0070382 biolink:CellularComponent exocytic vesicle A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. hp.json exocytotic vesicle|exocytic constitutive secretory pathway transport vesicle http://purl.obolibrary.org/obo/GO_0070382 OBO:MAXO_0000332 biolink:NamedThing biopsy of anus Removal of tissue from the anus. NCIT:C51586 hp.json anus biopsy http://purl.obolibrary.org/obo/MAXO_0000332 OBO:MAXO_0000333 biolink:NamedThing biopsy of aorta Removal of tissue from the aorta. hp.json aorta biopsy http://purl.obolibrary.org/obo/MAXO_0000333 OBO:MAXO_0000330 biolink:NamedThing biopsy of adrenal gland Removal of tissue from the adrenal gland. hp.json adrenal gland biopsy http://purl.obolibrary.org/obo/MAXO_0000330 OBO:MAXO_0000331 biolink:NamedThing biopsy of anal canal Removal of tissue from the anal canal. hp.json anal canal biopsy http://purl.obolibrary.org/obo/MAXO_0000331 UBERON:3000981 biolink:AnatomicalEntity limb external integument structure Dermal, epidermal, glandular and pigment structures of the limb integument. hp.json http://purl.obolibrary.org/obo/UBERON_3000981 HP:0030503 biolink:PhenotypicFeature Macular telangiectasia UMLS:C0339480|SNOMEDCT_US:232024000 hp.json Parafoveal telangiectasia|Juxtafoveal telangiectasia http://purl.obolibrary.org/obo/HP_0030503 UBERON:3000977 biolink:AnatomicalEntity body external integument structure Dermal, epidermal, glandular and pigment structures of the body integument. hp.json http://purl.obolibrary.org/obo/UBERON_3000977 HP:0005537 biolink:PhenotypicFeature Decreased mean platelet volume Average platelet volume below the lower limit of the normal reference interval. UMLS:C1833182|UMLS:C1096368 hp.json Small platelets|Small platelet size|Small platelets size http://purl.obolibrary.org/obo/HP_0005537 HP:0030504 biolink:PhenotypicFeature Grouped congenital hypertrophy of retinal pigment epithelium UMLS:C4072989 hp.json Bear track congenital hypertrophy of retinal pigment epithelium http://purl.obolibrary.org/obo/HP_0030504 HP:0030505 biolink:PhenotypicFeature Nummular pigmentation of the fundus Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. UMLS:C4072990 hp.json Nummular pigmentation of the retina http://purl.obolibrary.org/obo/HP_0030505 HP:0030506 biolink:PhenotypicFeature Yellow/white lesions of the retina UMLS:C4072991 hp.json http://purl.obolibrary.org/obo/HP_0030506 HP:0005539 biolink:PhenotypicFeature T cell chronic lymphocytic lymphoma/leukemia A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. UMLS:C4025181 hp.json http://purl.obolibrary.org/obo/HP_0005539 HP:0005532 biolink:PhenotypicFeature Macrocytic dyserythropoietic anemia UMLS:C4025183 hp.json Macrocytic dyserythropoietic anaemia http://purl.obolibrary.org/obo/HP_0005532 HP:0030500 biolink:PhenotypicFeature Yellow/white lesions of the macula UMLS:C4072987 hp.json http://purl.obolibrary.org/obo/HP_0030500 UBERON:3000972 biolink:AnatomicalEntity head external integument structure Dermal, epidermal, glandular and pigment structures of the external head integument. hp.json http://purl.obolibrary.org/obo/UBERON_3000972 HP:0030501 biolink:PhenotypicFeature Macular crystals Crystalline deposits in the macula. UMLS:C4072988 hp.json http://purl.obolibrary.org/obo/HP_0030501 HP:0005534 biolink:PhenotypicFeature Transient myeloproliferative syndrome A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. MSH:C563551|SNOMEDCT_US:450934005|UMLS:C1834582 hp.json Transient leukaemia of Down syndrome|Transient myeloproliferative disorder|TMD|Transient leukemia of Down syndrome http://purl.obolibrary.org/obo/HP_0005534 HP:0030502 biolink:PhenotypicFeature Retinoschisis Splitting of the neuroretinal layers of the retina. UMLS:C0152439|MSH:D041441|SNOMEDCT_US:44268007 hp.json http://purl.obolibrary.org/obo/HP_0030502 HP:0005535 biolink:PhenotypicFeature Exercise-induced hemolysis A form of hemolytic anemia that can be triggered by exertion. UMLS:C4025182 hp.json http://purl.obolibrary.org/obo/HP_0005535 OBO:MAXO_0000336 biolink:NamedThing biopsy of bone marrow Removal of tissue from the bone marrow. hp.json bone marrow biopsy http://purl.obolibrary.org/obo/MAXO_0000336 OBO:MAXO_0000337 biolink:NamedThing biopsy of bone tissue Removal of tissue from the bone tissue. hp.json bone tissue biopsy http://purl.obolibrary.org/obo/MAXO_0000337 OBO:MAXO_0000334 biolink:NamedThing biopsy of body of uterus Removal of tissue from the body of uterus. hp.json body of uterus biopsy http://purl.obolibrary.org/obo/MAXO_0000334 HP:0005531 biolink:PhenotypicFeature Biphenotypic acute leukemia A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias. SNOMEDCT_US:128818009|UMLS:C0023464|SNOMEDCT_US:278453007|MSH:D015456 hp.json Myeloid/lymphoid leukaemia|Acute biphenotypic leukaemia|Myeloid/lymphoid leukemia|Biphenotypic acute leukaemia http://purl.obolibrary.org/obo/HP_0005531 OBO:MAXO_0000335 biolink:NamedThing biopsy of bone element Removal of tissue from the bone element. hp.json bone element biopsy http://purl.obolibrary.org/obo/MAXO_0000335 HP:0030507 biolink:PhenotypicFeature Retinal crystals Crystalline deposits in the retina. UMLS:C4072992 hp.json http://purl.obolibrary.org/obo/HP_0030507 HP:0030508 biolink:PhenotypicFeature Retinal cavernous hemangioma SNOMEDCT_US:312937006|UMLS:C0730304 hp.json Retinal cavernous haemangioma http://purl.obolibrary.org/obo/HP_0030508 HP:0030509 biolink:PhenotypicFeature Retinal racemose hemangioma UMLS:C4072993 hp.json Retinal racemose haemangioma http://purl.obolibrary.org/obo/HP_0030509 OBO:MAXO_0000338 biolink:NamedThing biopsy of brain Removal of tissue from the brain. hp.json brain biopsy http://purl.obolibrary.org/obo/MAXO_0000338 OBO:MAXO_0000339 biolink:NamedThing biopsy of brainstem Removal of tissue from the brainstem. hp.json brainstem biopsy http://purl.obolibrary.org/obo/MAXO_0000339 OBO:MAXO_0000361 biolink:NamedThing biopsy of fallopian tube Removal of tissue from the fallopian tube. hp.json fallopian tube biopsy http://purl.obolibrary.org/obo/MAXO_0000361 OBO:MAXO_0000362 biolink:NamedThing biopsy of frontal lobe Removal of tissue from the frontal lobe. hp.json frontal lobe biopsy http://purl.obolibrary.org/obo/MAXO_0000362 OBO:MAXO_0000360 biolink:NamedThing biopsy of eye Removal of tissue from the eye. hp.json eye biopsy http://purl.obolibrary.org/obo/MAXO_0000360 OBO:MAXO_0000365 biolink:NamedThing biopsy of gonad Removal of tissue from the gonad. hp.json gonad biopsy http://purl.obolibrary.org/obo/MAXO_0000365 OBO:MAXO_0000366 biolink:NamedThing biopsy of heart Removal of tissue from the heart. hp.json heart biopsy http://purl.obolibrary.org/obo/MAXO_0000366 UBERON:0037089 biolink:AnatomicalEntity wall of orbit FMA:63144 hp.json orbit wall http://purl.obolibrary.org/obo/UBERON_0037089 OBO:MAXO_0000363 biolink:NamedThing biopsy of gall bladder Removal of tissue from the gall bladder. hp.json gall bladder biopsy http://purl.obolibrary.org/obo/MAXO_0000363 OBO:MAXO_0000364 biolink:NamedThing biopsy of genitourinary system Removal of tissue from the genitourinary system. hp.json genitourinary system biopsy http://purl.obolibrary.org/obo/MAXO_0000364 HP:0005507 biolink:PhenotypicFeature Hemoglobin Barts Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. UMLS:C3539063 hp.json Haemoglobin Barts|Hb Barts http://purl.obolibrary.org/obo/HP_0005507 HP:0005508 biolink:PhenotypicFeature Monoclonal immunoglobulin M proteinemia Presence of a monoclonal immunoglobulin M protein in the serum. UMLS:C0024419|SNOMEDCT_US:190817009|MSH:D008258|SNOMEDCT_US:35562000|SNOMEDCT_US:190818004 hp.json Waldenstrom macroglobulinemia http://purl.obolibrary.org/obo/HP_0005508 UBERON:0001095 biolink:AnatomicalEntity caudal vertebra Any vertebral bone that is part of the caudal region of the vertebral column (tail or coccyx). ZFA:0000326|OpenCyc:Mx4rv9IEzZwpEbGdrcN5Y29ycA|TAO:0000326|NCIT:C32334|MA:0000310|MA:0001420|XAO:0003079|EMAPA:18374|FMA:12527|UMLS:C0223616|galen:CoccygealVertebra hp.json coccygeal vertebra|tail vertebra|caudal vertebral bone|caudal vertebra|coccygeal segment|caudal vertebral bone element|fused tail vertebra|coccygea|caudal vertebrae http://purl.obolibrary.org/obo/UBERON_0001095 uberon_slim|vertebrate_core|pheno_slim HP:0030514 biolink:PhenotypicFeature Difficulty adjusting from dark to light UMLS:C4072996 hp.json http://purl.obolibrary.org/obo/HP_0030514 UBERON:0001094 biolink:AnatomicalEntity sacral vertebra A vertebra bone that is part of the sacral region of the vertebral column. EMAPA:18336|MA:0000313|UMLS:C1261045|NCIT:C12853|XAO:0003078|OpenCyc:Mx4rv-ZsXpwpEbGdrcN5Y29ycA|FMA:12526|AAO:0000552|galen:SacralVertebra hp.json segment of sacrum|sacral segment http://purl.obolibrary.org/obo/UBERON_0001094 uberon_slim|pheno_slim HP:0030515 biolink:PhenotypicFeature Moderately reduced visual acuity Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation). SNOMEDCT_US:397542006|UMLS:C1301510 hp.json Moderate visual loss|Moderate visual impairment|Moderate vision loss|Moderate reduction in visual acuity http://purl.obolibrary.org/obo/HP_0030515 HP:0005505 biolink:PhenotypicFeature Refractory anemia MSH:D000753|SNOMEDCT_US:128845005|UMLS:C0002893 hp.json Refractory anaemia http://purl.obolibrary.org/obo/HP_0005505 HP:0030516 biolink:PhenotypicFeature Homonymous hemianopia UMLS:C0271202|SNOMEDCT_US:34063005|MSH:D006423 hp.json Homonymous hemianopsia http://purl.obolibrary.org/obo/HP_0030516 HP:0030517 biolink:PhenotypicFeature Heteronymous hemianopia UMLS:C0271207|SNOMEDCT_US:345121001|SNOMEDCT_US:344104004 hp.json Heteronymous hemianopsia http://purl.obolibrary.org/obo/HP_0030517 UBERON:0001096 biolink:AnatomicalEntity wall of esophagus An anatomical wall that is part of a esophagus [Automatically generated definition]. MA:0002691|FMA:12611|EMAPA:35326 hp.json wall of oesophagus|wall of gullet|anatomical wall of oesophagus|anatomical wall of gullet|anatomical wall of esophagus|gullet wall|oesophagus wall|esophagus wall|esophageal wall|oesophagus anatomical wall|gullet anatomical wall|esophagus anatomical wall http://purl.obolibrary.org/obo/UBERON_0001096 HP:0005506 biolink:PhenotypicFeature Chronic myelogenous leukemia A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. MSH:D015464|SNOMEDCT_US:92818009|DOID:8552|UMLS:C0023473|SNOMEDCT_US:63364005 hp.json Chronic myeloid leukemia|Chronic myelogenous leukaemia|Chronic myeloid leukaemia|Chronic myelocytic leukaemia|Chronic myelocytic leukemia http://purl.obolibrary.org/obo/HP_0005506 UBERON:0001091 biolink:AnatomicalEntity calcareous tooth Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. MA:0000348|AEO:0000220|NCIT:C12506|UMLS:C0040426|EMAPA:32906|GAID:1260|TAO:0001625|MIAA:0000041|EHDAA2:0004605|XAO:0000431|CALOHA:TS-1055|MESH:D014070|ZFA:0000694|FMA:12516|VHOG:0001733|BTO:0000397|MAT:0000041|EV:0100063|OpenCyc:Mx4rvVjUEZwpEbGdrcN5Y29ycA|EFO:0000839 hp.json dentine containing tooth|tooth|vertebrate tooth|dental element http://purl.obolibrary.org/obo/UBERON_0001091 uberon_slim|vertebrate_core|pheno_slim|efo_slim HP:0030510 biolink:PhenotypicFeature Combined hamartoma of the retinal pigment epithelium and retina UMLS:C1862062 hp.json http://purl.obolibrary.org/obo/HP_0030510 UBERON:0001090 biolink:AnatomicalEntity synovial fluid Joint fluid is a transudate of plasma that is actively secreted by synovial cells. ENVO:02000039|MA:0002544|GAID:265|UMLS:C0039097|BTO:0001339|ZFA:0005154|galen:SynovialFluid|NCIT:C33718|MESH:D013582|CALOHA:TS-0996|Wikipedia:Synovial_fluid|TAO:0005154|FMA:12277 hp.json joint fluid|joint fluid http://purl.obolibrary.org/obo/UBERON_0001090 uberon_slim|vertebrate_core HP:0030511 biolink:PhenotypicFeature Bradyopsia Difficulty in seeing moving objects. UMLS:C1842073|SNOMEDCT_US:711163009|MSH:C564243 hp.json Difficulty seeing moving objects http://purl.obolibrary.org/obo/HP_0030511 UBERON:0001093 biolink:AnatomicalEntity vertebral bone 2 The second vertebral bone in the vertebral column. UMLS:C0004457|GAID:237|OpenCyc:Mx4rv-zaJJwpEbGdrcN5Y29ycA|MA:0001422|ZFA:0001168|EMAPA:19432|MESH:D001368|TAO:0001168|NCIT:C32240|EHDAA:10608|FMA:12520 hp.json axis (CII)|cervical vertebra 2|second cervical vertebra|axis vertebra|axis|axis [C II]|C2|cervical axis|C2 vertebra|vertebra 2 http://purl.obolibrary.org/obo/UBERON_0001093 uberon_slim|vertebrate_core|pheno_slim HP:0030512 biolink:PhenotypicFeature Difficulty adjusting to changes in luminance UMLS:C4072994 hp.json http://purl.obolibrary.org/obo/HP_0030512 HP:0005502 biolink:PhenotypicFeature Increased red cell osmotic fragility UMLS:C1849478 hp.json Increased red cell fragility|Increased erythrocyte osmotic fragility http://purl.obolibrary.org/obo/HP_0005502 UBERON:0001092 biolink:AnatomicalEntity vertebral bone 1 The first vertebral bone in the vertebral column. MESH:D001270|NCIT:C32239|GAID:236|FMA:12519|MA:0001421|ZFA:0001167|EMAPA:19431|TAO:0001167|AAO:0000709|UMLS:C0004170|EHDAA:10606 hp.json first cervical vertebra|atlas vertebra|atlas [C I]|atlas (CI)|C1 vertebra|atlas|cervical atlas|vertebra 1|cervical vertebra 1|C1 http://purl.obolibrary.org/obo/UBERON_0001092 uberon_slim|vertebrate_core|pheno_slim UBERON:3000982 biolink:AnatomicalEntity tail external integument structure Dermal, epidermal, glandular and pigment structures of the tail integument. hp.json http://purl.obolibrary.org/obo/UBERON_3000982 HP:0030513 biolink:PhenotypicFeature Difficulty adjusting from light to dark UMLS:C4072995 hp.json http://purl.obolibrary.org/obo/HP_0030513 OBO:MAXO_0000369 biolink:NamedThing biopsy of intestine Removal of tissue from the intestine. hp.json intestine biopsy http://purl.obolibrary.org/obo/MAXO_0000369 OBO:MAXO_0000367 biolink:NamedThing biopsy of hypopharynx Removal of tissue from the hypopharynx. hp.json hypopharynx biopsy http://purl.obolibrary.org/obo/MAXO_0000367 OBO:MAXO_0000368 biolink:NamedThing biopsy of hypothalamus Removal of tissue from the hypothalamus. hp.json hypothalamus biopsy http://purl.obolibrary.org/obo/MAXO_0000368 HP:0030518 biolink:PhenotypicFeature Congruous homonymous hemianopia UMLS:C4072997 hp.json Congruous hemianopsia http://purl.obolibrary.org/obo/HP_0030518 UBERON:0001098 biolink:AnatomicalEntity incisor tooth Incisors are the first kind of tooth in heterodont mammals. They are located in the premaxilla above and mandible below. [WP,unvetted]. EHDAA:8047|GAID:1263|NCIT:C32769|MA:0000349|EHDAA:8011|OpenCyc:Mx4rwP1ch5wpEbGdrcN5Y29ycA|EMAPA:32889|MESH:D007180|FMA:12823|BTO:0001741|UMLS:C0021156 hp.json incisor http://purl.obolibrary.org/obo/UBERON_0001098 uberon_slim|pheno_slim HP:0030519 biolink:PhenotypicFeature Congruous heteronymous hemianopia UMLS:C4072998 hp.json http://purl.obolibrary.org/obo/HP_0030519 OBO:MAXO_0000350 biolink:NamedThing biopsy of colon Removal of tissue from the colon. hp.json colon biopsy http://purl.obolibrary.org/obo/MAXO_0000350 OBO:MAXO_0000351 biolink:NamedThing biopsy of colorectum Removal of tissue from the colorectum. hp.json colorectum biopsy http://purl.obolibrary.org/obo/MAXO_0000351 UBERON:0037094 biolink:AnatomicalEntity wall of common carotid artery FMA:66284 hp.json common carotid arterial wall http://purl.obolibrary.org/obo/UBERON_0037094 OBO:MAXO_0000354 biolink:NamedThing biopsy of dorsal plus ventral thalamus Removal of tissue from the dorsal plus ventral thalamus. hp.json dorsal plus ventral thalamus biopsy http://purl.obolibrary.org/obo/MAXO_0000354 OBO:MAXO_0000355 biolink:NamedThing biopsy of duodenum Removal of tissue from the duodenum. hp.json duodenum biopsy http://purl.obolibrary.org/obo/MAXO_0000355 OBO:MAXO_0000352 biolink:NamedThing biopsy of dermis Removal of tissue from the dermis. hp.json dermis biopsy http://purl.obolibrary.org/obo/MAXO_0000352 OBO:MAXO_0000353 biolink:NamedThing biopsy of diaphragm Removal of tissue from the diaphragm. hp.json diaphragm biopsy http://purl.obolibrary.org/obo/MAXO_0000353 HP:0030520 biolink:PhenotypicFeature Binasal hemianopia MSH:D006423|UMLS:C0271208|SNOMEDCT_US:87278000 hp.json http://purl.obolibrary.org/obo/HP_0030520 HP:0005518 biolink:PhenotypicFeature Increased mean corpuscular volume Larger than normal size of erythrocytes. UMLS:C0855791 hp.json Increased MCV|Erythrocyte macrocytosis http://purl.obolibrary.org/obo/HP_0005518 UBERON:0013069 biolink:AnatomicalEntity popliteal area A depression on the ventral side of the femur, at the knee joint, between the condyles. FMA:22525|NCIT:C103222 hp.json popliteal region|popliteal fossa|popliteal space|knee pit http://purl.obolibrary.org/obo/UBERON_0013069 HP:0030525 biolink:PhenotypicFeature Moderate constriction of peripheral visual field Peripheral visual field constriction with 20-49 degrees binocular visual field preserved. UMLS:C4073002 hp.json Moderate peripheral visual field loss http://purl.obolibrary.org/obo/HP_0030525 UBERON:0001084 biolink:AnatomicalEntity skin of head A zone of skin that is part of a head [Automatically generated definition]. NCIT:C52757|UMLS:C0205029|FMA:12166|MA:0000582|FMA:24756|SCTID:181484006 hp.json head zone of skin|zone of skin of adult head|adult head zone of skin|head skin|zone of skin of head http://purl.obolibrary.org/obo/UBERON_0001084 UBERON:0001083 biolink:AnatomicalEntity myocardium of ventricle Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer. SCTID:192084000|ZFA:0005061|EFO:0003088|TAO:0005061|FMA:12151|EMAPA:32748|VHOG:0000604|MA:0000082 hp.json ventricular myocardium|ventricle myocardium|ventricle cardiac muscle http://purl.obolibrary.org/obo/UBERON_0001083 vertebrate_core|pheno_slim|efo_slim HP:0030526 biolink:PhenotypicFeature Severe constriction of peripheral visual field Peripheral visual field constriction with 10-19 degrees central field preserved. UMLS:C4073003 hp.json Severe peripheral visual field loss http://purl.obolibrary.org/obo/HP_0030526 HP:0030527 biolink:PhenotypicFeature Very severe constriction of peripheral visual field Peripheral visual field constriction with <10 degrees central field preserved. UMLS:C4073004 hp.json Very severe peripheral visual field loss http://purl.obolibrary.org/obo/HP_0030527 UBERON:0001085 biolink:AnatomicalEntity skin of trunk A zone of skin that is part of a trunk [Automatically generated definition]. NCIT:C12295|UMLS:C0205031|FMA:12167|SCTID:181489001|FMA:23093|MA:0000517|EMAPA:37278 hp.json torso zone of skin|trunk zone of skin|zone of skin of trunk|trunk skin|zone of skin of torso http://purl.obolibrary.org/obo/UBERON_0001085 HP:0030528 biolink:PhenotypicFeature Paracentral scotoma SNOMEDCT_US:64418005|UMLS:C0271197|MSH:D012607 hp.json http://purl.obolibrary.org/obo/HP_0030528 HP:0005517 biolink:PhenotypicFeature T-cell lymphoma/leukemia A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas. UMLS:C4025186 hp.json http://purl.obolibrary.org/obo/HP_0005517 UBERON:0001080 biolink:AnatomicalEntity postzygapophysis Paired processes at the caudal end of the neural arch. The articular facets of the postzygapophyses face lateroventrally and articulate with the dorsomedially facing facets of the prezygapophyses of the succeeding vertebra. EMAPA:35918|AAO:0000702|ZFA:0000681|MA:0001451|FMA:11954|TAO:0000681 hp.json processus obliquus posterior|processus articularis inferior|caudal articular process of vertebra|vertebra caudal articular process|neural postzygopophyses|neural postzygapophyses|neural postzygopophysis|processus articularis inferior vertebrae|zygapophysis inferior|neural postzygapophysis|inferior articular process of vertebra|postzygapophysis http://purl.obolibrary.org/obo/UBERON_0001080 vertebrate_core|pheno_slim HP:0030521 biolink:PhenotypicFeature Bitemporal hemianopia MSH:D006423|SNOMEDCT_US:61917005|UMLS:C0221184 hp.json http://purl.obolibrary.org/obo/HP_0030521 HP:0005510 biolink:PhenotypicFeature Transient erythroblastopenia A transient reduction in the number of erythroblasts in the circulation. UMLS:C4082199 hp.json Transient decrease in blood erythrocyte number http://purl.obolibrary.org/obo/HP_0005510 HP:0005511 biolink:PhenotypicFeature Heinz body anemia Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. MSH:C563030|UMLS:C0700299 hp.json Heinz body anaemia http://purl.obolibrary.org/obo/HP_0005511 HP:0030522 biolink:PhenotypicFeature Mild constriction of peripheral visual field A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians. UMLS:C4072999 hp.json Mild peripheral visual field loss http://purl.obolibrary.org/obo/HP_0030522 UBERON:0001082 biolink:AnatomicalEntity epicardium of ventricle An epicardial layer that lines a cardiac ventricle. FMA:12150|ZFA:0005058|TAO:0005058 hp.json ventricular epicardium|cardiac ventricle epicardium http://purl.obolibrary.org/obo/UBERON_0001082 vertebrate_core HP:0030523 biolink:PhenotypicFeature obsolete Peripheral visual field constriction with 40-50 degrees central field preserved hp.json http://purl.obolibrary.org/obo/HP_0030523 HP:0005512 biolink:PhenotypicFeature Impaired neutrophil killing of staphylococci A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph. UMLS:C4025188 hp.json http://purl.obolibrary.org/obo/HP_0005512 UBERON:0001081 biolink:AnatomicalEntity endocardium of ventricle Endocardium that is part of the cardiac ventricle. VHOG:0000607|MA:0000079|EMAPA:32747|TAO:0002247|SCTID:192172004|ZFA:0001615|FMA:12148 hp.json endocardium of ventricle of heart|heart ventricle endocardium|endocardium of heart ventricle|ventricle endocardium|lower chamber of heart endocardium|ventricular endocardium|ventricle of heart endocardium|cardiac ventricle endocardium|endocardium of cardiac ventricle|endocardium of lower chamber of heart|ventricle endocardial tissue http://purl.obolibrary.org/obo/UBERON_0001081 vertebrate_core|pheno_slim HP:0030524 biolink:PhenotypicFeature obsolete Peripheral visual field constriction with 30-39 degrees central field preserved hp.json http://purl.obolibrary.org/obo/HP_0030524 HP:0005513 biolink:PhenotypicFeature Increased megakaryocyte count Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. UMLS:C4025187 hp.json http://purl.obolibrary.org/obo/HP_0005513 OBO:MAXO_0000358 biolink:NamedThing biopsy of endometrium Removal of tissue from the endometrium. hp.json endometrium biopsy http://purl.obolibrary.org/obo/MAXO_0000358 OBO:MAXO_0000359 biolink:NamedThing biopsy of esophagus Removal of tissue from the esophagus. hp.json esophagus biopsy http://purl.obolibrary.org/obo/MAXO_0000359 OBO:MAXO_0000356 biolink:NamedThing biopsy of endocardium Removal of tissue from the endocardium. hp.json endocardium biopsy http://purl.obolibrary.org/obo/MAXO_0000356 OBO:MAXO_0000357 biolink:NamedThing biopsy of endocrine pancreas Removal of tissue from the endocrine pancreas. hp.json endocrine pancreas biopsy http://purl.obolibrary.org/obo/MAXO_0000357 UBERON:0001088 biolink:AnatomicalEntity urine Excretion that is the output of a kidney. CALOHA:TS-1092|GAID:1189|MIAA:0000058|galen:Urine|NCIT:C13283|EFO:0001939|EMAPA:36554|OpenCyc:Mx4rvVjGppwpEbGdrcN5Y29ycA|UMLS:C0042036|BTO:0001419|MA:0002545|FMA:12274|MESH:D014556|MAT:0000058|ENVO:00002047 hp.json http://purl.obolibrary.org/obo/UBERON_0001088 efo_slim|uberon_slim|pheno_slim HP:0030529 biolink:PhenotypicFeature Ring scotoma UMLS:C0438434|SNOMEDCT_US:129625005|MSH:D012607 hp.json http://purl.obolibrary.org/obo/HP_0030529 UBERON:0001087 biolink:AnatomicalEntity pleural fluid Transudate contained in the pleural cavity. FMA:12273|MA:0002532|MAT:0000500|Wikipedia:Pleural_fluid|ncithesaurus:Pleural_Fluid|BTO:0003080 hp.json http://purl.obolibrary.org/obo/UBERON_0001087 uberon_slim UBERON:0001089 biolink:AnatomicalEntity sweat Secretion produced by a sweat gland. BTO:0001254|MA:0002539|GAID:1172|FMA:12275|NCIT:C13280|ENVO:02000025|MESH:D013542|UMLS:C0038984|OpenCyc:Mx4rvVjJtZwpEbGdrcN5Y29ycA hp.json skin exudate http://purl.obolibrary.org/obo/UBERON_0001089 uberon_slim|pheno_slim HP:0005565 biolink:PhenotypicFeature Reduced renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. UMLS:C3807131 hp.json Loss of definition of corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005565 HP:0005567 biolink:PhenotypicFeature Renal magnesium wasting High urine magnesium in the presence of hypomagnesemia. MSH:C537152|UMLS:C1835171 hp.json http://purl.obolibrary.org/obo/HP_0005567 HP:0005561 biolink:PhenotypicFeature Abnormality of bone marrow cell morphology An anomaly of the form or number of cells in the bone marrow. SNOMEDCT_US:127035006|UMLS:C4021634|MSH:D001855|UMLS:C0005956 hp.json Bone marrow disease|Anomaly of the bone marrow cells http://purl.obolibrary.org/obo/HP_0005561 HP:0005562 biolink:PhenotypicFeature Multiple renal cysts The presence of many cysts in the kidney. UMLS:C0431718|SNOMEDCT_US:253883006 hp.json Multiple kidney cysts http://purl.obolibrary.org/obo/HP_0005562 HP:0005563 biolink:PhenotypicFeature Decreased numbers of nephrons A reduction in the count of nephrons per kidney. UMLS:C2673888|UMLS:C1841994 hp.json Oligonephronia|Decreased numbers of glomeruli http://purl.obolibrary.org/obo/HP_0005563 HP:0005564 biolink:PhenotypicFeature Absence of renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. UMLS:C1849765 hp.json Absent renal corticomedullary differentiation|Loss of corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005564 HP:0005560 biolink:PhenotypicFeature Imbalanced hemoglobin synthesis Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia. UMLS:C4025177 hp.json Imbalanced Hb synthesis|Imbalanced haemoglobin synthesis http://purl.obolibrary.org/obo/HP_0005560 HP:0005576 biolink:PhenotypicFeature Tubulointerstitial fibrosis A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy. UMLS:C1969372 hp.json Tubulointerstitial scarring|Tubulointerstitial renal fibrosis http://purl.obolibrary.org/obo/HP_0005576 HP:0005579 biolink:PhenotypicFeature Impaired renal ltubular reabsorption of chloride Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine. UMLS:C1846349 hp.json Impaired reabsorption of Cl|Impaired reabsorption of Cl- http://purl.obolibrary.org/obo/HP_0005579 HP:0005572 biolink:PhenotypicFeature Decreased renal tubular phosphate excretion UMLS:C1968899 hp.json http://purl.obolibrary.org/obo/HP_0005572 HP:0005574 biolink:PhenotypicFeature Non-acidotic proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. UMLS:C4025176 hp.json http://purl.obolibrary.org/obo/HP_0005574 HP:0005575 biolink:PhenotypicFeature Hemolytic-uremic syndrome A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. UMLS:C0019061|MSH:D006463|SNOMEDCT_US:111407006 hp.json Hemolytic uremic syndrome http://purl.obolibrary.org/obo/HP_0005575 HP:0005571 biolink:PhenotypicFeature Increased renal tubular phosphate reabsorption UMLS:C1968910 hp.json Increased percent tubular reabsorption of phosphorus http://purl.obolibrary.org/obo/HP_0005571 HP:0005547 biolink:PhenotypicFeature Myeloproliferative disorder Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. SNOMEDCT_US:414794006|SNOMEDCT_US:425333006|UMLS:C0027022|MSH:D009196 hp.json http://purl.obolibrary.org/obo/HP_0005547 HP:0005548 biolink:PhenotypicFeature Megakaryocytopenia A reduced count of megakaryocytes. UMLS:C1858312 hp.json http://purl.obolibrary.org/obo/HP_0005548 HP:0005549 biolink:PhenotypicFeature obsolete Congenital neutropenia hp.json http://purl.obolibrary.org/obo/HP_0005549 HP:0005543 biolink:PhenotypicFeature Reduced protein C activity An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. SNOMEDCT_US:76407009|UMLS:C0398625|MSH:D020151 hp.json Protein C deficiency http://purl.obolibrary.org/obo/HP_0005543 HP:0005546 biolink:PhenotypicFeature Increased red cell osmotic resistance UMLS:C1858628 hp.json http://purl.obolibrary.org/obo/HP_0005546 PR:P47989 biolink:Protein xanthine dehydrogenase/oxidase (human) A xanthine dehydrogenase/oxidase that is encoded in the genome of human. UniProtKB:P47989 hp.json XDH|XDHA|hXDH http://purl.obolibrary.org/obo/PR_P47989 OBO:MAXO_0000326 biolink:NamedThing biopsy of head Removal of tissue from the head. hp.json head biopsy http://purl.obolibrary.org/obo/MAXO_0000326 HP:0005540 biolink:PhenotypicFeature Red blood cell keratocytosis A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns. UMLS:C4021635 hp.json RBC keratocytosis|Distorted red blood cells resembling keratocytes http://purl.obolibrary.org/obo/HP_0005540 HP:0005541 biolink:PhenotypicFeature Congenital agranulocytosis Congenital onset of a marked decrease in the number of granulocytes. SNOMEDCT_US:89655007|MSH:C537592|UMLS:C1853118 hp.json http://purl.obolibrary.org/obo/HP_0005541 HP:0005542 biolink:PhenotypicFeature Prolonged whole-blood clotting time An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. UMLS:C0151563 hp.json Prolonged clotting time http://purl.obolibrary.org/obo/HP_0005542 OBO:MAXO_0000329 biolink:NamedThing biopsy of adrenal cortex Removal of tissue from the adrenal cortex. hp.json adrenal cortex biopsy http://purl.obolibrary.org/obo/MAXO_0000329 OBO:MAXO_0000327 biolink:NamedThing biopsy of abdomen Removal of tissue from the abdomen. hp.json abdomen biopsy http://purl.obolibrary.org/obo/MAXO_0000327 OBO:MAXO_0000328 biolink:NamedThing biopsy of adipose tissue Removal of tissue from the adipose tissue. hp.json adipose tissue biopsy http://purl.obolibrary.org/obo/MAXO_0000328 HP:0005558 biolink:PhenotypicFeature Chronic leukemia A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. SNOMEDCT_US:128933000|UMLS:C4280478|UMLS:C1279296|SNOMEDCT_US:92812005 hp.json Chronic leukaemia|Chronic blood cancer http://purl.obolibrary.org/obo/HP_0005558 HP:0005559 biolink:PhenotypicFeature Abnormality of the kinin-kallikrein system UMLS:C4025178 hp.json http://purl.obolibrary.org/obo/HP_0005559 GO:0033371 biolink:BiologicalProcess T cell secretory granule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule in a T cell. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. hp.json T lymphocyte secretory granule organization|T cell secretory granule organisation|T-cell secretory granule organization|T cell secretory granule organization and biogenesis|T-lymphocyte secretory granule maturation|T-lymphocyte secretory granule organization http://purl.obolibrary.org/obo/GO_0033371 HP:0005556 biolink:PhenotypicFeature Abnormality of the metopic suture The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture". UMLS:C4025180 hp.json http://purl.obolibrary.org/obo/HP_0005556 HP:0005557 biolink:PhenotypicFeature Abnormal zygomatic arch morphology An abnormality of the zygomatic arch, also known as the cheek bone. UMLS:C4025179 hp.json Anomaly of the malar arch|Abnormality of the malar arch|Malformation of the zygomatic arch|Deformity of the zygomatic arch|Abnormality of the zygomatic arch|Malformation of the malar arch|Anomaly of the zygomatic arch|Deformity of the malar arch http://purl.obolibrary.org/obo/HP_0005557 HP:0005550 biolink:PhenotypicFeature Chronic lymphatic leukemia A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias. SNOMEDCT_US:277473004|UMLS:C0023434|SNOMEDCT_US:92814006|SNOMEDCT_US:51092000|MSH:D015451 hp.json Chronic lymphocytic leukemia|Chronic lymphatic leukaemia|Chronic lymphocytic leukaemia http://purl.obolibrary.org/obo/HP_0005550 CL:3000000 biolink:Cell ciliated epithelial cell of esophagus A ciliated epithelial cell of the esophagus. hp.json http://purl.obolibrary.org/obo/CL_3000000 CHEBI:58419 biolink:ChemicalSubstance 4-hydroxy-L-proline zwitterion The amino acid zwitterion formed from 4-hydroxy-L-proline. It is the major microspecies present at pH 7.3. hp.json 4-hydroxy-L-proline|(2S)-4-hydroxypyrrolidinium-2-carboxylate http://purl.obolibrary.org/obo/CHEBI_58419 3_STAR UBERON:0003692 biolink:AnatomicalEntity acromioclavicular joint Any joint connecting the acromonion of the scapula and clavicle. UMLS:C0001208|FMA:25898|MESH:D000173|GAID:249|OpenCyc:Mx4rwHhmSJwpEbGdrcN5Y29ycA|NCIT:C32047 hp.json acromioclavicular articulation|scapuloclavicular articulation|articulatio acromioclavicularis http://purl.obolibrary.org/obo/UBERON_0003692 UBERON:0003693 biolink:AnatomicalEntity retroperitoneal space Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side. GAID:25|NCIT:C12298|MESH:D012187|FMA:15080|CALOHA:TS-2337|EFO:0002806|UMLS:C0035359 hp.json spatium retroperitoneale|retroperitoneum http://purl.obolibrary.org/obo/UBERON_0003693 pheno_slim|efo_slim UBERON:0003690 biolink:AnatomicalEntity fused sacrum A collection of sacral vertebrae in the sacral region that are fused and part of the bony pelvis. GAID:241|galen:Sacrum|NCIT:C33508|FMA:16202|CALOHA:TS-2201|OpenCyc:Mx4rvmBKnJwpEbGdrcN5Y29ycA|MESH:D012447|EFO:0003071 hp.json sacrum|sacral bone|sacrum [sacral vertebrae I - V]|os sacrum [vertebrae sacrales I - V]|os sacrum|sacrum [sacral vertebrae I-V] http://purl.obolibrary.org/obo/UBERON_0003690 pheno_slim|efo_slim UBERON:0003691 biolink:AnatomicalEntity epidural space The outermost part of the spinal canal. It is the space within the canal (formed by the surrounding vertebrae) lying outside the dura mater. FMA:71228|MESH:D004824|GAID:243 hp.json epidural cavity|cavum extradurale|spatium epidurale|extradural space|cavum epidurale|spatium extradurale http://purl.obolibrary.org/obo/UBERON_0003691 UBERON:0001037 biolink:AnatomicalEntity strand of hair A filament, mostly protein, that grows from follicles found in the dermis[WP]. CALOHA:TS-0430|GAID:71|MIAA:0000160|MA:0000155|UMLS:C0018494|FMA:53667|OpenCyc:Mx4rvVjOX5wpEbGdrcN5Y29ycA-Mp88EdaAAACgycbRww|EV:0100157|VHOG:0001191|BTO:0001501|NCIT:C32705|EMAPA:18769|MAT:0000160|MESH:D006197|EFO:0000958 hp.json quill|fur|coat hair|coat/ hair|whisker|setulae|vibrissa|microchaeta|hair http://purl.obolibrary.org/obo/UBERON_0001037 pheno_slim|efo_slim|uberon_slim UBERON:0003698 biolink:AnatomicalEntity subtalar joint A joint of the pes that connects the talus and the calcaneus. NCIT:C33653|GAID:260|UMLS:C0038593|MESH:D013380|FMA:35198 hp.json talocalcaneal joint|subtalar joint|articulatio talocalcanea|talocalcaneal articulation|articulatio subtalaris http://purl.obolibrary.org/obo/UBERON_0003698 UBERON:0003699 biolink:AnatomicalEntity pubic symphysis The firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments. GAID:267|NCIT:C33425|MESH:D011631|EMAPA:37940|OpenCyc:Mx4rwGw9npwpEbGdrcN5Y29ycA|UMLS:C0034015|AAO:0000769|FMA:16950 hp.json symphysis pubica|interpubic articulation|symphysis pubis|symphysis pubis|symphysis pubis|symphisis pubis http://purl.obolibrary.org/obo/UBERON_0003699 organ_slim|pheno_slim UBERON:0001033 biolink:AnatomicalEntity gustatory system The sensory system for the sense of taste. Wikipedia:Gustatory_system|ZFA:0001101|AAO:0010577|TAO:0001101|EFO:0000830|SCTID:423940004|XAO:0003197|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2889|MAT:0000275|FMA:7194|NLXANAT:090803|MIAA:0000275|BILA:0000143|MA:0002446 hp.json gustatory organ system|taste system http://purl.obolibrary.org/obo/UBERON_0001033 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0003696 biolink:AnatomicalEntity metatarsophalangeal joint The metatarsophalangeal articulations are the joints between the metatarsal bones of the foot and the proximal bones of the toes . They are condyloid joints meaning an elliptical or rounded surface (of the metatarsal bones) come close to the shallow cavities (of the proximal phalanges). The ligaments are the plantar and two collateral. galen:MetatarsoPhalangealJoint|NCIT:C33108|GAID:258|MESH:D008683|FMA:35222|UMLS:C0025589|OpenCyc:Mx4rwCtS0pwpEbGdrcN5Y29ycA hp.json articulationes metatarsophalangeae|metatarsophalangeal|metatarsalphalangeal joint|metatarsal joint|metatarsophalangeal articulation|metatarsal-phalangeal joint http://purl.obolibrary.org/obo/UBERON_0003696 UBERON:0001032 biolink:AnatomicalEntity sensory system Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. MA:0002442|AAO:0000555|FMA:75259|BAMS:SEN|ZFA:0000282|NLXANAT:090816|XAO:0003194|EMAPA:16192|TAO:0000282|MAT:0000031|FBbt:00007692|Wikipedia:Sensory_system|VHOG:0001674|BILA:0000099|EFO:0000805|MIAA:0000031|EHDAA2:0003094 hp.json sensory subsystem|sense organ subsystem|sense organs|sensory organ system|sensory systems|organa sensuum|set of sense organs|organa sensuum|sense organs set|organa sensuum http://purl.obolibrary.org/obo/UBERON_0001032 efo_slim|uberon_slim|vertebrate_core UBERON:0003697 biolink:AnatomicalEntity abdominal wall The tissues that surround the organs that are present within the abdominal cavity. The abdominal wall tissue is composed of layers of fat, parietal peritoneum, fascia, and muscles. FMA:10429|Wikipedia:Abdominal_wall|MESH:D034861|FMA:259054|GAID:26|SCTID:181613000|NCIT:C77608|EMAPA:37064|UMLS:C0836916 hp.json layers of the abdominal wall|paries abdominalis|abdominal wall proper|layers of the abdominal wall|paries abdominalis|paries abdominalis|wall of abdomen|paries abdominalis|wall of abdomen proper http://purl.obolibrary.org/obo/UBERON_0003697 pheno_slim UBERON:0003694 biolink:AnatomicalEntity atlanto-axial joint The Atlanto-axial joint is of a complicated nature, comprising no fewer than four distinct joints. There is a pivot articulation between the odontoid process of the axis and the ring formed by the anterior arch and the transverse ligament of the atlas. NCIT:C32157|MESH:D001268|GAID:250|FMA:25524|UMLS:C0004168|OpenCyc:Mx4rwUUIHpwpEbGdrcN5Y29ycA hp.json median atlanto-axial joint|lateral atlanto-axial joint|articulatio atlantoepistrophica|atlanto axial joint|atlantoaxial|atlantoaxial joint|articulatio atlantoaxialis http://purl.obolibrary.org/obo/UBERON_0003694 pheno_slim OBO:hp#uk_spelling biolink:NamedThing UK spelling hp.json http://purl.obolibrary.org/obo/hp#uk_spelling UBERON:0003695 biolink:AnatomicalEntity metacarpophalangeal joint The metacarpophalangeal joints (MCP) are of the condyloid kind, formed by the reception of the rounded heads of the metacarpal bones into shallow cavities on the proximal ends of the first phalanges, with the exception of that of the thumb, which presents more of the characters of a ginglymoid joint. Arthritis of the MCP is a distinguishing feature of Rheumatoid Arthritis, as opposed to the distal interphalangeal joint in osteoarthritis. [WP,unvetted]. MA:0000453|FMA:35246|galen:MetacarpoPhalangealJoint|MESH:D008662|UMLS:C0025525|OpenCyc:Mx4rwNt8wJwpEbGdrcN5Y29ycA|NCIT:C33106|GAID:255|EMAPA:19302 hp.json MP joint|metacarpal phalangeal joint|metacarpal joint|metacarpo-phalangeal joint|knuckle|knuckles|carpometacarpophalangeal joint|articulationes metacarpophalangeae http://purl.obolibrary.org/obo/UBERON_0003695 pheno_slim GO:1901859 biolink:BiologicalProcess negative regulation of mitochondrial DNA metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial DNA metabolic process. hp.json downregulation of mtDNA metabolism|downregulation of mtDNA metabolic process|downregulation of mitochondrial DNA metabolism|down regulation of mtDNA metabolism|inhibition of mtDNA metabolic process|down regulation of mitochondrial DNA metabolism|down-regulation of mitochondrial DNA metabolic process|negative regulation of mtDNA metabolism|down-regulation of mtDNA metabolism|negative regulation of mtDNA metabolic process|down-regulation of mtDNA metabolic process|down-regulation of mitochondrial DNA metabolism|negative regulation of mitochondrial DNA metabolism|down regulation of mitochondrial DNA metabolic process|inhibition of mtDNA metabolism|down regulation of mtDNA metabolic process|inhibition of mitochondrial DNA metabolism|inhibition of mitochondrial DNA metabolic process|downregulation of mitochondrial DNA metabolic process http://purl.obolibrary.org/obo/GO_1901859 UBERON:0001019 biolink:AnatomicalEntity nerve fasciculus A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). FMA:12235|Wikipedia:Nervous_system_fascicle|TGMA:0000088|UMLS:C1185741|NCIT:C32586|BTO:0002191|EMAPA:36605|BIRNLEX:872 hp.json nerve fasciculus|fasciculus|nerve fiber tract|fascicle|neural fasciculus|nerve bundle http://purl.obolibrary.org/obo/UBERON_0001019 uberon_slim UBERON:0001018 biolink:AnatomicalEntity axon tract A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. FMA:83847|EV:0100304|BIRNLEX:1649|FBbt:00005100|NLX:147822 hp.json tract of neuraxis|tract|nerve tract|neuraxis tract|nerve tract|axonal tract http://purl.obolibrary.org/obo/UBERON_0001018 cumbo|pheno_slim GO:1901858 biolink:BiologicalProcess regulation of mitochondrial DNA metabolic process Any process that modulates the frequency, rate or extent of mitochondrial DNA metabolic process. hp.json regulation of mtDNA metabolism|regulation of mitochondrial DNA metabolism|regulation of mtDNA metabolic process http://purl.obolibrary.org/obo/GO_1901858 CHEBI:22478 biolink:ChemicalSubstance amino alcohol An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group. hp.json amino alcohols|aminoalcohols|aminoalcohol http://purl.obolibrary.org/obo/CHEBI_22478 3_STAR UBERON:0003681 biolink:AnatomicalEntity masticatory muscle In humans: Muscles arising in the zygomatic arch that close the jaw. Their nerve supply is masseteric from the mandibular division of the trigeminal nerve. (From Stedman, 25th ed). MA:0003115|UMLS:C0024890|NCIT:C33147|MESH:D008410|FMA:74060|GAID:145 hp.json jaw muscle|muscle of mastication|musculi masticatorii|musculi masticatorii http://purl.obolibrary.org/obo/UBERON_0003681 pheno_slim GO:0060980 biolink:BiologicalProcess cell migration involved in coronary vasculogenesis The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form the blood vessels of the heart. hp.json http://purl.obolibrary.org/obo/GO_0060980 UBERON:0003682 biolink:AnatomicalEntity palatal muscle The muscles of the palate are the glossopalatine, palatoglossus, levator palati(ni), musculus uvulae, palatopharyngeus, and tensor palati(ni). NCIT:C33247|MESH:D010156|FMA:46726|GAID:151|UMLS:C0030213|EMAPA:37929 hp.json musculi palati mollis et faucium|musculi palati mollis et faucium|muscle of palate|palatine muscle|palate muscle|palatal muscle http://purl.obolibrary.org/obo/UBERON_0003682 pheno_slim GO:0060981 biolink:BiologicalProcess cell migration involved in coronary angiogenesis The orderly movement of a cell from one site to another that will contribute to the formation of new blood vessels in the heart from pre-existing blood vessels. hp.json http://purl.obolibrary.org/obo/GO_0060981 UBERON:0001020 biolink:AnatomicalEntity nervous system commissure Axon tract that crosses the midline of the central nervous system[NIF, modified]. In the context of Drosophila refers to a broad band of axons connecting equivalent neuropils each side of the brain[FBbt]. OpenCyc:Mx4rdBrmE6gOEdudWQACs5b6Bw|TADS:0000201|FMA:83906|UMLS:C1185742|NCIT:C32349|NLX:110|NLXANAT:20090513 hp.json commissure of neuraxis|neuraxis commissure|white matter commissure|commissure http://purl.obolibrary.org/obo/UBERON_0001020 cumbo|uberon_slim GO:0060986 biolink:BiologicalProcess endocrine hormone secretion The regulated release of a hormone into the circulatory system. hp.json http://purl.obolibrary.org/obo/GO_0060986 UBERON:0003689 biolink:AnatomicalEntity sella turcica The sella turcica is a saddle-shaped depression in the sphenoid bone at the base of the human skull. [WP,unvetted]. MESH:D012658|CALOHA:TS-2342|GAID:231|NCIT:C12497|UMLS:C0036609|FMA:54709 hp.json turkish saddle|suprasellar|Turkey Chair http://purl.obolibrary.org/obo/UBERON_0003689 pheno_slim UBERON:0001028 biolink:AnatomicalEntity diaphysis of radius A diaphysis that is part of a radius bone[Automatically generated definition]. FMA:33782|NCIT:C120674 hp.json body of radius|corpus radii|radial shaft|shaft of radius|radial diaphysis|shaft of radius http://purl.obolibrary.org/obo/UBERON_0001028 pheno_slim UBERON:0003687 biolink:AnatomicalEntity foramen magnum In anatomy, in the occipital bone, the foramen magnum is one of the several oval or circular apertures in the base of the skull, through which the medulla oblongata (an extension of the spinal cord) enters and exits the skull vault. Apart from the transmission of the medulla oblongata and its membranes, the foramen magnum transmits the Spinal Accessory nerve, vertebral arteries, the anterior and posterior spinal arteries, the membrana tectoria and alar ligaments. [WP,unvetted]. MESH:D005539|EMAPA:37868|FMA:75306|UMLS:C0016519|ZFA:0005387|SCTID:244679008|TAO:0002045|Wikipedia:Foramen_magnum|NCIT:C12495|OpenCyc:Mx4rwOm-FpwpEbGdrcN5Y29ycA|GAID:228|AAO:0010826 hp.json http://purl.obolibrary.org/obo/UBERON_0003687 vertebrate_core|pheno_slim UBERON:0001027 biolink:AnatomicalEntity sensory nerve A nerve that transmits from sensory receptors on the surface of the body to the central nervous system. OpenCyc:Mx4rv0GdXpwpEbGdrcN5Y29ycA|FBbt:00005136|Wikipedia:Sensory_nerve|EHDAA2:0003200|FMA:5868|AEO:0000201 hp.json afferent nerve|nervus sensorius|nervus sensorius http://purl.obolibrary.org/obo/UBERON_0001027 uberon_slim|pheno_slim CHEBI:58402 biolink:ChemicalSubstance 5-oxo-L-prolinate Conjugate base of 5-oxo-L-proline. Gmelin:675391|Beilstein:4783230|MetaCyc:5-OXOPROLINE hp.json 5-oxo-L-prolate|5-oxo-L-proline|(2S)-5-oxopyrrolidine-2-carboxylate http://purl.obolibrary.org/obo/CHEBI_58402 3_STAR UBERON:0003685 biolink:AnatomicalEntity cranial suture Fibrous joint in which the articulating bones or cartilages of the skull are connected by sutural ligaments (scant amount of collagenous dense connective tissue). Examples: sagittal suture, frontal suture. GAID:211|EMAPA:35263|SCTID:244509003|MA:0001475|FMA:7493|MESH:D003393|Wikipedia:Suture_(joint) hp.json sutura|suture of cranium|suture|suture joint of skull|cranium suture http://purl.obolibrary.org/obo/UBERON_0003685 pheno_slim|uberon_slim UBERON:0001021 biolink:AnatomicalEntity nerve An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. AAO:0011070|EHDAA:4657|ZFA:0007009|FBbt:00005105|EMAPA:32815|XAO:0003047|EHDAA:3776|galen:Nerve|EHDAA:2851|NCIT:C12466|SCTID:256864008|TAO:0007009|VHOG:0000901|FMA:65239|BAMS:n|UMLS:C0031119|OpenCyc:Mx4rwP3lkpwpEbGdrcN5Y29ycA|EHDAA2:0003137|NLX:147826|SCTID:244457007|BIRNLEX:1615|BTO:0001027|AEO:0000137|GAID:747|GAID:758|BSA:0000098|EV:0100371|XAO:0000204|MA:0000217|MA:0000228|FMA:65132|UMLS:C0027740|EMAPA:32808|MESH:D010525|CALOHA:TS-0772|Wikipedia:Nervous_system|NCIT:C12768|BTO:0000925 hp.json peripheral nerve|peripheral nerve|neural subtree|nerves http://purl.obolibrary.org/obo/UBERON_0001021 vertebrate_core|pheno_slim|human_reference_atlas|uberon_slim UBERON:0003684 biolink:AnatomicalEntity abdominal cavity The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). OpenCyc:Mx4rvZR1TJwpEbGdrcN5Y29ycA|GAID:17|MESH:D034841|NCIT:C12664|MA:0003057|galen:AbdominalCavity|EFO:0000213|EMAPA:36505|Wikipedia:Abdominal_cavity|UMLS:C0230168|FMA:12266|SCTID:361294009 hp.json cavity of compartment of abdomen|cavitas abdominis|cavity of abdominal compartment|cavitas abdominis|space of abdominal compartment|cavitas abdominis http://purl.obolibrary.org/obo/UBERON_0003684 efo_slim UBERON:0001008 biolink:AnatomicalEntity renal system The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products.. MESH:D014551|BTO:0001244|EV:0100095|SCTID:362204003|CALOHA:TS-1323|MA:0000325|EFO:0000803|TADS:0000162|FMA:7159|EHDAA:5901|EMAPA:17366|galen:UrinaryTract|EHDAA2:0001601|NCIT:C12413|XAO:0000143|Wikipedia:Excretory_system|MAT:0000027|AAO:0010257|BTO:0003092|ZFA:0000163|FBbt:00005056|VHOG:0000723|WBbt:0005736|MIAA:0000027|TAO:0000163|UMLS:C1508753|GAID:391|BILA:0000015 hp.json renal system|renal/urinary system|systema urinaria|renal or urinary system|excretory system|urinary tract|systema urinarium|urinary system http://purl.obolibrary.org/obo/UBERON_0001008 efo_slim|uberon_slim|vertebrate_core|pheno_slim UBERON:0001007 biolink:AnatomicalEntity digestive system Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. galen:DigestiveSystem|ZFA:0000339|MESH:D004064|TAO:0000339|XAO:0000125|SCTID:278859004|GAID:278|ncithesaurus:Digestive_System|MAT:0000018|Wikipedia:Digestive_system|AAO:0000129|TADS:0000170|BILA:0000082|MA:0002431|MIAA:0000018|WBbt:0005748|CALOHA:TS-1293|EV:0100056|FBbt:00005055|FMA:7152|BTO:0000058|EFO:0000793 hp.json gut|alimentary system|gastrointestinal system|alimentary tract http://purl.obolibrary.org/obo/UBERON_0001007 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0001009 biolink:AnatomicalEntity circulatory system Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. VHOG:0001248|AAO:0000959|CALOHA:TS-2103|OpenCyc:Mx4rvVjzG5wpEbGdrcN5Y29ycA|Wikipedia:Circulatory_system hp.json systema cardiovasculare|systema cardiovasculare http://purl.obolibrary.org/obo/UBERON_0001009 uberon_slim GO:1901862 biolink:BiologicalProcess negative regulation of muscle tissue development Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development. hp.json down-regulation of muscle tissue development|down regulation of muscle tissue development|inhibition of muscle tissue development|downregulation of muscle tissue development http://purl.obolibrary.org/obo/GO_1901862 GO:1901863 biolink:BiologicalProcess positive regulation of muscle tissue development Any process that activates or increases the frequency, rate or extent of muscle tissue development. hp.json up regulation of muscle tissue development|activation of muscle tissue development|upregulation of muscle tissue development|up-regulation of muscle tissue development http://purl.obolibrary.org/obo/GO_1901863 GO:1901860 biolink:BiologicalProcess positive regulation of mitochondrial DNA metabolic process Any process that activates or increases the frequency, rate or extent of mitochondrial DNA metabolic process. hp.json activation of mtDNA metabolism|upregulation of mtDNA metabolism|upregulation of mitochondrial DNA metabolic process|activation of mitochondrial DNA metabolism|upregulation of mtDNA metabolic process|upregulation of mitochondrial DNA metabolism|activation of mtDNA metabolic process|positive regulation of mtDNA metabolism|up regulation of mtDNA metabolism|positive regulation of mitochondrial DNA metabolism|up-regulation of mitochondrial DNA metabolic process|up regulation of mitochondrial DNA metabolism|up-regulation of mtDNA metabolism|up-regulation of mtDNA metabolic process|up regulation of mitochondrial DNA metabolic process|activation of mitochondrial DNA metabolic process|up-regulation of mitochondrial DNA metabolism|up regulation of mtDNA metabolic process|positive regulation of mtDNA metabolic process http://purl.obolibrary.org/obo/GO_1901860 GO:1901861 biolink:BiologicalProcess regulation of muscle tissue development Any process that modulates the frequency, rate or extent of muscle tissue development. hp.json http://purl.obolibrary.org/obo/GO_1901861 UBERON:0001015 biolink:AnatomicalEntity musculature A subdivision of the muscular system corresponding to a subdisivision of an organism. TAO:0000548|EFO:0001949|VSAO:0005038|EMAPA:32715|Wikipedia:Muscular_system|BTO:0000887|MA:0000165|WBbt:0005737|UMLS:C0026845|FMA:32558|OpenCyc:Mx4rvVjmr5wpEbGdrcN5Y29ycA|NCIT:C13056|AAO:0011066|ZFA:0000548|EMAPA:35577 hp.json set of muscles|muscle group|set of skeletal muscles|muscles|muscle system|musculi|musculature|musculature system|muscles set http://purl.obolibrary.org/obo/UBERON_0001015 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0003679 biolink:AnatomicalEntity mouth floor The ventral area of the mouth. In organisms with a tongue, this is the area under the ventral surface of the tongue[ncit, modified]. GAID:1283|FMA:86592|EFO:0001923|EMAPA:37911|NCIT:C54187|MESH:D009060|UMLS:C0026638|CALOHA:TS-2207 hp.json sublingual region|floor of the oval cavity|floor of oval cavity|floor of mouth http://purl.obolibrary.org/obo/UBERON_0003679 pheno_slim|efo_slim UBERON:0001017 biolink:AnatomicalEntity central nervous system The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord. XAO:0000215|FBbt:00005094|EMAPA:16754|UMLS:C0927232|MESH:D002490|NCIT:C12438|OpenCyc:Mx4rvzYt3pwpEbGdrcN5Y29ycA|UMLS:C0927232|BIRNLEX:1099|EHDAA2:0000225|AAO:0000090|VHOG:0000293|MAT:0000457|MA:0000167|ZFA:0000012|SCTID:278199004|CALOHA:TS-0150|BTO:0000227|BILA:0000080|GAID:570|TAO:0000012|Wikipedia:Central_nervous_system|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=854|EMAPA:16470|EFO:0000908|EHDAA:828|FMA:55675|EV:0100163|BAMS:CNS hp.json systema nervosum centrale|neuraxis|cerebrospinal axis|CNS http://purl.obolibrary.org/obo/UBERON_0001017 uberon_slim|cumbo|vertebrate_core|pheno_slim|efo_slim UBERON:0001016 biolink:AnatomicalEntity nervous system The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]. BTO:0001484|EMAPA:16469|CALOHA:TS-1313|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=3236|FBbt:00005093|MESH:D009420|SCTID:278196006|GAID:466|MA:0000016|Wikipedia:Nervous_system|OpenCyc:Mx4rvViT_pwpEbGdrcN5Y29ycA|EFO:0000802|NCIT:C12755|XAO:0000177|FMA:7157|ZFA:0000396|MAT:0000026|EHDAA2:0001246|AAO:0000324|BIRNLEX:844|TAO:0000396|WBbt:0005735|UMLS:C0027763|MIAA:0000026|VHOG:0000402|BILA:0000079|EV:0100162|EHDAA:826 hp.json systema nervosum|nerve net|systema nervosum|neurological system|nerve net http://purl.obolibrary.org/obo/UBERON_0001016 cumbo|uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0003677 biolink:AnatomicalEntity tooth root The part of a tooth that is implanted in the gum; the root is normally located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone. GAID:1280|MESH:D014092|EMAPA:37975|FMA:55624 hp.json radix corona|root of tooth|tooth root http://purl.obolibrary.org/obo/UBERON_0003677 pheno_slim UBERON:0003674 biolink:AnatomicalEntity cuspid A tooth that is typically long and pointed and bearing a single cusp. NCIT:C32258|UMLS:C0010482|FMA:55636|GAID:1262|MESH:D003481 hp.json canine tooth|eye teeth|canine teeth|eyeteeth|canine (tooth)|eye tooth|dens caninus|canine eminence|eyetooth|cuspis dentis|canine teeth|caniniform tooth|fang|canine|dogtooth (anatomy)|dentes canini http://purl.obolibrary.org/obo/UBERON_0003674 pheno_slim UBERON:0001010 biolink:AnatomicalEntity diaphysis of ulna The body of the ulna at its upper part is prismatic in form, and curved so as to be convex behind and lateralward; its central part is straight; its lower part is rounded, smooth, and bent a little lateralward. It tapers gradually from above downward, and has three borders and three surfaces. NCIT:C120676|FMA:33760 hp.json ulnar diaphysis|supinator crest|shaft of ulna|shaft of ulna|body of ulna|corpus ulnae http://purl.obolibrary.org/obo/UBERON_0001010 UBERON:0003675 biolink:AnatomicalEntity tooth crown The portion of the tooth covered by enamel. NCIT:C32375|MESH:D019228|FMA:55623|UMLS:C0226993|GAID:1275 hp.json tooth crown|anatomical crown|crown of tooth|crown|corona dentis http://purl.obolibrary.org/obo/UBERON_0003675 UBERON:0001013 biolink:AnatomicalEntity adipose tissue Portion of connective tissue composed of adipocytes enmeshed in areolar tissue. UMLS:C0001527|CALOHA:TS-0013|EMAPA:35112|Wikipedia:Adipose_tissue|XAO:0003049|AEO:000020|VHOG:0001284|MAT:0000015|ZFA:0005345|TAO:0002134|SCTID:55603005|AAO:0000001|MIAA:0000015|OpenCyc:Mx4rvVjc_ZwpEbGdrcN5Y29ycA|NCIT:C12472|MESH:D000273|BTO:0001487|galen:FattyTissue|EHDAA2:0003120|MA:0000009|EFO:0000790|EV:0100381|GAID:920|FMA:20110 hp.json adipose|bodyfat|fatty depot|fat tissue|fat|fatty tissue http://purl.obolibrary.org/obo/UBERON_0001013 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas|efo_slim UBERON:0003672 biolink:AnatomicalEntity dentition A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. FMA:75150|GAID:1249|AAO:0000126|UMLS:C0011443|OpenCyc:Mx4rvVi65JwpEbGdrcN5Y29ycA|MESH:D003817|NCIT:C13072 hp.json dentes|teeth set|collection of teeth|teeth|teeth|set of teeth http://purl.obolibrary.org/obo/UBERON_0003672 pheno_slim UBERON:0001012 biolink:AnatomicalEntity head of radius The head of the radius has a cylindrical form, and on its upper surface is a shallow cup or fovea for articulation with the capitulum (or capitellum) of the humerus. The circumference of the head is smooth; it is broad medially where it articulates with the radial notch of the ulna, narrow in the rest of its extent, which is embraced by the annular ligament. The deepest point in the fovea is not axi-symmetric with the long axis of the radius, creating a cam effect during pronation and supination[WP]. galen:HeadOfRadius|FMA:33773 hp.json radial head|caput radii http://purl.obolibrary.org/obo/UBERON_0001012 pheno_slim GO:1901879 biolink:BiologicalProcess regulation of protein depolymerization Any process that modulates the frequency, rate or extent of protein depolymerization. hp.json regulation of protein polymer degradation|regulation of protein polymer catabolism|regulation of protein polymer breakdown|regulation of protein polymer catabolic process http://purl.obolibrary.org/obo/GO_1901879 UBERON:0003658 biolink:AnatomicalEntity hip muscle Any muscle organ that is part of a hip [Automatically generated definition]. MA:0000657 hp.json muscle organ of hip|hip muscle organ|muscle organ of hip region|muscle organ of regio coxae|hip region muscle organ|regio coxae muscle organ http://purl.obolibrary.org/obo/UBERON_0003658 UBERON:0003659 biolink:AnatomicalEntity pedal digit muscle Any muscle organ that is part of a toe [Automatically generated definition]. EMAPA:37333|MA:0000648 hp.json muscle organ of foot digit|foot digit muscle|foot digit muscle|muscle organ of digit of terminal segment of free lower limb|muscle organ of terminal segment of free lower limb digit|muscle organ of toe|digitus pedis muscle organ|digit of foot muscle organ|digit of terminal segment of free lower limb muscle organ|hind limb digit muscle|muscle organ of digit of foot|muscle organ of digitus pedis|toe muscle organ|terminal segment of free lower limb digit muscle organ|foot digit muscle organ http://purl.obolibrary.org/obo/UBERON_0003659 UBERON:2001457 biolink:AnatomicalEntity postcranial axial cartilage Cartilage which is part of the axial skeleton. ZFA:0001457 hp.json http://purl.obolibrary.org/obo/UBERON_2001457 UBERON:0003660 biolink:AnatomicalEntity eyelid muscle A muscle that attaches to an eyelid. MA:0000269|UMLS:C1707990|NCIT:C52803 hp.json blepharon muscle organ|eyelid muscle organ|muscle organ of blepharon|muscle organ of eyelid http://purl.obolibrary.org/obo/UBERON_0003660 UBERON:0001004 biolink:AnatomicalEntity respiratory system Functional system which consists of structures involved in respiration. MAT:0000030|XAO:0000117|MA:0000327|EHDAA2:0001604|EFO:0000804|NCIT:C12779|MIAA:0000030|FMA:7158|EHDAA:2203|MESH:D012137|SCTID:278197002|EV:0100036|CALOHA:TS-1319|ZFA:0000272|BTO:0000203|Wikipedia:Respiratory_system|EMAPA:16727|AAO:0000541|GAID:78|OpenCyc:Mx4rvVjzFJwpEbGdrcN5Y29ycA|TAO:0000272|VHOG:0000202|UMLS:C0035237 hp.json Atmungssystem|systema respiratorium|apparatus respiratorius|apparatus respiratorius|systema respiratorium|respiratory system http://purl.obolibrary.org/obo/UBERON_0001004 uberon_slim|vertebrate_core|functional_classification|pheno_slim|efo_slim|human_reference_atlas UBERON:0003667 biolink:AnatomicalEntity lower jaw molar A molar tooth that is part of a lower jaw [Automatically generated definition]. EMAPA:17921|MA:0001602|FMA:290267|EHDAA2:0001025|UMLS:C1708756|EHDAA:8017|NCIT:C49584 hp.json lower molar|lower molar tooth|molar tooth of lower jaw|lower jaw molar tooth http://purl.obolibrary.org/obo/UBERON_0003667 UBERON:0001003 biolink:AnatomicalEntity skin epidermis The outer epithelial layer of the skin that is superficial to the dermis. GAID:932|MIAA:0000154|XAO:0000028|Wikipedia:Epidermis_(skin)|MESH:D004817|ZFA:0000105|VHOG:0000077|TAO:0000105|EFO:0000954|CALOHA:TS-0283|BTO:0000404|UMLS:C0014520|FMA:70596|MA:0000153|MAT:0000154|EMAPA:17528|AAO:0000143|EV:0100153|NCIT:C12708|SCTID:361694003 hp.json skin|vertebrate epidermis|epidermis http://purl.obolibrary.org/obo/UBERON_0001003 uberon_slim|vertebrate_core|pheno_slim|efo_slim|human_reference_atlas UBERON:0003665 biolink:AnatomicalEntity post-anal tail muscle A muscle organ that attaches to a tail vertebra [Automatically generated definition]. BTO:0001905|MA:0000699|AAO:0000081|EMAPA:37759 hp.json tail muscle|tail muscle organ|post-vent region muscle organ|muscle organ of post-vent region|muscle organ of tail|caudal muscle http://purl.obolibrary.org/obo/UBERON_0003665 UBERON:0003666 biolink:AnatomicalEntity upper jaw molar A molar tooth that is part of a upper jaw [Automatically generated definition]. MA:0001603|EMAPA:17942|EHDAA:8053|EHDAA2:0002125|UMLS:C1710580|FMA:55720|NCIT:C49795 hp.json maxillary secondary molar tooth|upper secondary molar tooth|upper molar|upper molar tooth|upper permanent molar tooth|molar tooth of upper jaw|upper jaw molar tooth http://purl.obolibrary.org/obo/UBERON_0003666 UBERON:0001005 biolink:AnatomicalEntity respiratory airway An airway through which respiratory air passes in organisms. Wikipedia:Trachea|SCTID:361380005|FMA:265130 hp.json airway|airways|airway|airways http://purl.obolibrary.org/obo/UBERON_0001005 uberon_slim|grouping_class UBERON:0001000 biolink:AnatomicalEntity vas deferens A secretory duct that transports sperm from the testis. In mammals this is a continuation of the epididymis and ends in the prostatic urethra where it terminates to form ejaculatory duct. galen:VasDeferens|MA:0000413|NCIT:C12813|MESH:D014649|EV:0100105|BTO:0001427|FMA:19234|MIAA:0000129|EMAPA:18681|EFO:0000981|OpenCyc:Mx4rvjv7bpwpEbGdrcN5Y29ycA|UMLS:C0042360|CALOHA:TS-1105|GAID:404|VHOG:0001135 hp.json vas deferen|sperm duct|deferent duct|ductus deferens|vasa deferentia http://purl.obolibrary.org/obo/UBERON_0001000 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0003663 biolink:AnatomicalEntity hindlimb muscle Any muscle organ that is part of a hindlimb [Automatically generated definition]. FMA:37368|AAO:0000222|EFO:0001928 hp.json muscle organ of inferior member|muscle organ of hind limb|lower limb skeletal muscle|lower extremity muscle organ|free lower limb muscle|muscle of free lower limb|muscle organ of lower extremity|hindlimb muscle organ|hind limb muscle organ|inferior member muscle organ|muscle organ of hindlimb|muscle of posterior limb http://purl.obolibrary.org/obo/UBERON_0003663 efo_slim UBERON:0003664 biolink:AnatomicalEntity manual digit muscle Any muscle organ that is part of a finger [Automatically generated definition]. EMAPA:37331|MA:0000624 hp.json hand digit muscle|muscle organ of digit of terminal segment of free upper limb|digitus manus muscle organ|muscle organ of terminal segment of free upper limb digit|fore limb digit muscle|digit of hand muscle organ|digit of terminal segment of free upper limb muscle organ|muscle organ of digit of hand|finger muscle organ|terminal segment of free upper limb digit muscle organ|muscle organ of digitus manus|muscle organ of hand digit|hand digit muscle organ|hand digit muscle|muscle organ of finger http://purl.obolibrary.org/obo/UBERON_0003664 UBERON:0003661 biolink:AnatomicalEntity limb muscle Any muscle organ that is part of a limb [Automatically generated definition]. MA:0000692|EMAPA:32700 hp.json limb muscle organ|muscle organ of limb|limb skeletal muscle http://purl.obolibrary.org/obo/UBERON_0003661 pheno_slim UBERON:0003662 biolink:AnatomicalEntity forelimb muscle Any muscle organ that is part of a forelimb. AAO:0000204|BTO:0000479|FMA:37348|EMAPA:36049 hp.json arm muscle system|musculature of the arm|muscle of upper limb|musculature of arm|wing muscle|upper limb skeletal muscle|fore limb muscle organ|free upper limb muscle|muscle of free upper limb|wing muscle|forelimb muscle organ http://purl.obolibrary.org/obo/UBERON_0003662 MPATH:718 biolink:NamedThing pre-sacral teratoma Generally benign germ cell derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor. Pre-sacral tumors located in the retrorectal space between the rectum and the sacrococcygeal part of the spine. hp.json http://purl.obolibrary.org/obo/MPATH_718 HP:0500196 biolink:PhenotypicFeature Abnormal CSF glutamine concentration Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. hp.json Abnormal glutamine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500196 HP:0500197 biolink:PhenotypicFeature Increased CSF glutamine concentration Abnormally increased levels of glutamine in cerebrospinal fluid. hp.json High glutamine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500197 HP:0500194 biolink:PhenotypicFeature Decreased CSF isoleucine concentration Abnormally decreased levels of isoleucine in cerebrospinal fluid. hp.json Low levels of isoleucine in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500194 HP:0500195 biolink:PhenotypicFeature Abnormal CSF glutamine family amino acid concentration Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. hp.json Abnormal glutamine family amino acid levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500195 GO:1901888 biolink:BiologicalProcess regulation of cell junction assembly Any process that modulates the frequency, rate or extent of cell junction assembly. hp.json http://purl.obolibrary.org/obo/GO_1901888 HP:0500198 biolink:PhenotypicFeature Decreased CSF glutamine concentration Abnormally decreased levels of glutamine in cerebrospinal fluid. hp.json Low glutamine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500198 HP:0500199 biolink:PhenotypicFeature Abnormal CSF glutamate concentration Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. hp.json Abnormal glutamic acid levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500199 GO:1901889 biolink:BiologicalProcess negative regulation of cell junction assembly Any process that stops, prevents or reduces the frequency, rate or extent of cell junction assembly. hp.json down regulation of cell junction assembly|inhibition of cell junction assembly|down-regulation of cell junction assembly|downregulation of cell junction assembly http://purl.obolibrary.org/obo/GO_1901889 GO:1901880 biolink:BiologicalProcess negative regulation of protein depolymerization Any process that stops, prevents or reduces the frequency, rate or extent of protein depolymerization. hp.json down-regulation of protein polymer breakdown|negative regulation of protein polymer breakdown|inhibition of protein polymer catabolic process|inhibition of protein depolymerization|downregulation of protein polymer catabolism|down-regulation of protein depolymerization|downregulation of protein polymer degradation|down regulation of protein polymer breakdown|negative regulation of protein polymer catabolic process|down-regulation of protein polymer catabolic process|down regulation of protein polymer catabolism|inhibition of protein polymer degradation|downregulation of protein polymer breakdown|down regulation of protein polymer catabolic process|down-regulation of protein polymer catabolism|negative regulation of protein polymer catabolism|down-regulation of protein polymer degradation|negative regulation of protein polymer degradation|downregulation of protein polymer catabolic process|downregulation of protein depolymerization|inhibition of protein polymer catabolism|inhibition of protein polymer breakdown|down regulation of protein polymer degradation|down regulation of protein depolymerization http://purl.obolibrary.org/obo/GO_1901880 GO:1901881 biolink:BiologicalProcess positive regulation of protein depolymerization Any process that activates or increases the frequency, rate or extent of protein depolymerization. hp.json upregulation of protein polymer breakdown|positive regulation of protein polymer catabolic process|up-regulation of protein polymer catabolism|activation of protein polymer breakdown|upregulation of protein depolymerization|up-regulation of protein polymer degradation|upregulation of protein polymer catabolic process|up regulation of protein polymer degradation|activation of protein polymer catabolic process|positive regulation of protein polymer degradation|activation of protein polymer catabolism|up-regulation of protein polymer breakdown|up regulation of protein depolymerization|upregulation of protein polymer catabolism|up regulation of protein polymer breakdown|up-regulation of protein polymer catabolic process|upregulation of protein polymer degradation|up-regulation of protein depolymerization|activation of protein depolymerization|activation of protein polymer degradation|positive regulation of protein polymer catabolism|positive regulation of protein polymer breakdown|up regulation of protein polymer catabolic process|up regulation of protein polymer catabolism http://purl.obolibrary.org/obo/GO_1901881 UBERON:0001073 biolink:AnatomicalEntity ileocecal junction A point along the course of the gastrointestinal tract where the small intestine (ileum) ends as it opens into the cecal portion of the large intestine; occurs usually within the iliac fossa, demarcated internally as the ileocecal orifice. MA:0000332|EMAPA:37601|FMA:11338 hp.json ileocaecal junction http://purl.obolibrary.org/obo/UBERON_0001073 UBERON:0001072 biolink:AnatomicalEntity posterior vena cava A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. MESH:D014682|GAID:548|NCIT:C12815|EMAPA:18416|BTO:0002682|AAO:0011083|XAO:0000388|EHDAA2:0000611|SCTID:181369003|VHOG:0001194|UMLS:C0042458|Wikipedia:Inferior_vena_cava|galen:InferiorVenaCava|MA:0000480|FMA:10951 hp.json postcava|vena cava inferior|posterior vena cava|inferior vena cava|caudal vena cava|vena cava inferior|posterior vena cava|inferior vena cava|inferior caval vein|inferior caval vein|vena cava inferior http://purl.obolibrary.org/obo/UBERON_0001072 human_reference_atlas|uberon_slim|pheno_slim GO:1901890 biolink:BiologicalProcess positive regulation of cell junction assembly Any process that activates or increases the frequency, rate or extent of cell junction assembly. hp.json upregulation of cell junction assembly|up regulation of cell junction assembly|up-regulation of cell junction assembly|activation of cell junction assembly http://purl.obolibrary.org/obo/GO_1901890 UBERON:0001075 biolink:AnatomicalEntity bony vertebral centrum Ossified form of a vertebral centrum, a skeletal element that functionally replaces the notochord[VSAP,modified]. EMAPA:36588|ZFA:0000126|MA:0001457|OpenCyc:Mx4rvXU4VpwpEbGdrcN5Y29ycA|TAO:0000126|UMLS:C0223084|NCIT:C12852|FMA:11945|AAO:0000697 hp.json centra|corpus vertebrae|holocentrum|corpus vertebrae (vertebrale)|autocentrum|body of vertebra|vertebral centrum|vertebral body|corpus vertebra|arcocentrum|vertebral centra http://purl.obolibrary.org/obo/UBERON_0001075 uberon_slim|vertebrate_core|pheno_slim UBERON:0001074 biolink:AnatomicalEntity pericardial cavity A potential space between the visceral and parietal layers of the pericardium. TAO:0002220|VHOG:0000556|NCIT:C38662|SCTID:362027001|ZFA:0001655|Wikipedia:Pericardial_cavity|FMA:11350|BSA:0000091|galen:PericardialSpace|EMAPA:16132|EHDAA2:0001434|EMAPA:16131|MA:0000053|UMLS:C0225972 hp.json cavitas pericardiaca|pericardial space|pericardial space|cavity of pericardial sac|cavitas pericardiaca http://purl.obolibrary.org/obo/UBERON_0001074 uberon_slim|vertebrate_core|pheno_slim UBERON:0001071 biolink:AnatomicalEntity superficial cervical artery It ascends beneath the anterior margin of the trapezius, distributing branches to it, and to the neighboring muscles and lymph glands in the neck, and anastomosing with the superficial branch of the descending branch of the occipital artery. NCIT:C53005|SCTID:161746006|Wikipedia:Superficial_part_of_transverse_cervical_artery|EMAPA:37117|FMA:10665|UMLS:C0226271|MA:0002052 hp.json superficial branch of transverse cervical artery|superficial branch of transverse cervical artery http://purl.obolibrary.org/obo/UBERON_0001071 uberon_slim|human_reference_atlas UBERON:0001070 biolink:AnatomicalEntity external carotid artery A terminal branch of the left or right common carotid artery which supplies oxygenated blood to to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges[MP]. BTO:0004696|VHOG:0000265|XAO:0000345|AAO:0010416|AAO:0010218|EMAPA:18611|UMLS:C0007275|OpenCyc:Mx4rwVJkPZwpEbGdrcN5Y29ycA|EFO:0001953|NCIT:C32551|FMA:10635|MA:0001929|GAID:480|SCTID:362044002|EHDAA2:0000461|MESH:D002342|Wikipedia:External_carotid_artery hp.json arteria carotis externa|external carotid|arteria carotis externa http://purl.obolibrary.org/obo/UBERON_0001070 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas|efo_slim UBERON:0001077 biolink:AnatomicalEntity transverse process of vertebra The transverse or costal processes of a vertebra, two in number, project one at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes. They serve for the attachment of muscles and ligaments. [WP,unvetted]. MA:0001456|FMA:11949|XAO:0003102|AAO:0000698 hp.json diapophyses|processus transversus|diapophysis|vertebra transverse process|transverse process|processus transversus vertebrae http://purl.obolibrary.org/obo/UBERON_0001077 uberon_slim|pheno_slim UBERON:0001076 biolink:AnatomicalEntity neural spine An extension of a neural arches dorsal to the neural canal[TAO,modified]. NCIT:C116112|EMAPA:25107|AAO:0000705|ZFA:0001336|TAO:0001336|MA:0001455|FMA:11948 hp.json processus spinosus|spinous process of vertebra|processus spinosus vertebrae|spinous process|neural spine|neural spines|vertebra spinous process|spine of verterba http://purl.obolibrary.org/obo/UBERON_0001076 uberon_slim|vertebrate_core|pheno_slim UBERON:0001079 biolink:AnatomicalEntity prezygapophysis Paired processes at the cephalic end of the neural arch. The articular facets of the prezygapophyses face dorsomedially and articulate with the lateroventrally facing facets of the postzygapophyses of the preceding vertebra. FMA:11953|ZFA:0001325|AAO:0000703|TAO:0001325|EMAPA:37802|MA:0001452 hp.json vertebra cranial articular process|superior articular process of vertebra|prezygapophysis|processus articularis superior|neural prezygapophyses|cranial articular process of vertebra|neural prezygopophyses|neural prezygapophysis|zygapophysis superior|processus articularis superior vertebrae http://purl.obolibrary.org/obo/UBERON_0001079 vertebrate_core UBERON:0001078 biolink:AnatomicalEntity pedicle of vertebra The two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae. FMA:11950|OpenCyc:Mx4rvYdjdJwpEbGdrcN5Y29ycA|MA:0001458|UMLS:C0223080|NCIT:C96274 hp.json radix arcus vertebrae|pedicle|pediculus arcus vertebrae|pedicle of vertebral arch|pediculus arcus vertebrae|vertebral pedicle|vertebra pedicle http://purl.obolibrary.org/obo/UBERON_0001078 pheno_slim|uberon_slim HP:0500185 biolink:PhenotypicFeature Abnormal CSF branched chain amino acid concentration Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. hp.json Abnormal branched-chain amino acid levels in cerbrospinal fluid http://purl.obolibrary.org/obo/HP_0500185 HP:0500186 biolink:PhenotypicFeature Abnormal CSF valine concentration Any deviation from the normal concentration of valine in the cerebrospinal fluid. hp.json Abnormal valine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500186 HP:0500183 biolink:PhenotypicFeature Abnormal CSF carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. hp.json http://purl.obolibrary.org/obo/HP_0500183 HP:0500184 biolink:PhenotypicFeature Abnormal CSF amino acid concentration Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. hp.json Abnormal CSF amino acid level|Abnormal amino acid levels in cerebrospinal fluid|Abnormal cerebrospinal fluid amino acid level http://purl.obolibrary.org/obo/HP_0500184 HP:0500189 biolink:PhenotypicFeature Abnormal CSF leucine concentration Any deviation from the normal concentration of leucine in the cerebrospinal fluid. hp.json Abnormal leucine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500189 HP:0500187 biolink:PhenotypicFeature Increased CSF valine concentration Any increased amount from normal of valine in the cerebrospinal fluid. hp.json High valine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500187 HP:0500188 biolink:PhenotypicFeature Decreased CSF valine concentration Any decreased amount from normal of valine in the cerebrospinal fluid. hp.json Low valine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500188 UBERON:0001062 biolink:AnatomicalEntity anatomical entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. TAO:0100000|WBbt:0000100|TGMA:0001822|UMLS:C1515976|BILA:0000000|CARO:0000000|AEO:0000000|NCIT:C12219|EHDAA2:0002229|FMA:62955|HAO:0000000|XAO:0000000|FBbt:10000000|AAO:0010841|MA:0000001|ZFA:0100000|BIRNLEX:6 hp.json http://purl.obolibrary.org/obo/UBERON_0001062 upper_level UBERON:0001064 biolink:AnatomicalEntity ventral pancreatic duct A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. UMLS:C0030288|EHDAA2:0001396|MESH:D010183|NCIT:C12272|VHOG:0000256|GAID:337|EHDAA:6905|BTO:0002362|MA:0000126|EMAPA:17510|FMA:16003|RETIRED_EHDAA2:0002177 hp.json pancreatic duct|main pancreatic duct|chief pancreatic duct|canal of Wirsung|ductus pancreatis ventralis|duct of Wirsung|hepaticopancreatic duct http://purl.obolibrary.org/obo/UBERON_0001064 human_reference_atlas|uberon_slim GO:0070345 biolink:BiologicalProcess negative regulation of fat cell proliferation Any process that stops or decreases the rate or extent of fat cell proliferation. hp.json downregulation of fat cell proliferation|negative regulation of adipocyte proliferation|down regulation of fat cell proliferation|inhibition of fat cell proliferation|down-regulation of fat cell proliferation|negative regulation of adipose cell proliferation http://purl.obolibrary.org/obo/GO_0070345 GO:0070346 biolink:BiologicalProcess positive regulation of fat cell proliferation Any process that activates or increases the rate or extent of fat cell proliferation. hp.json positive regulation of adipocyte proliferation|up-regulation of fat cell proliferation|activation of fat cell proliferation|upregulation of fat cell proliferation|positive regulation of adipose cell proliferation|up regulation of fat cell proliferation|stimulation of fat cell proliferation http://purl.obolibrary.org/obo/GO_0070346 HP:0500192 biolink:PhenotypicFeature Abnormal CSF isoleucine concentration Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. hp.json Abnormal isoleucine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500192 UBERON:0001066 biolink:AnatomicalEntity intervertebral disk A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core. UMLS:C0021815|MESH:D007403|FMA:10446|NCIT:C49571|GAID:105|EFO:0001370|EMAPA:32739|OpenCyc:Mx4rv11AcpwpEbGdrcN5Y29ycA|MA:0000110|BTO:0003625 hp.json spinal disk|spinal disc|intervertebral disc|intervertebral fibrocartilage|discus intervertebralis http://purl.obolibrary.org/obo/UBERON_0001066 pheno_slim|efo_slim|uberon_slim GO:0070344 biolink:BiologicalProcess regulation of fat cell proliferation Any process that modulates the frequency, rate or extent of fat cell proliferation. hp.json regulation of adipose cell proliferation|regulation of adipocyte proliferation http://purl.obolibrary.org/obo/GO_0070344 HP:0500193 biolink:PhenotypicFeature Increased CSF isoleucine concentration Abnormally increased levels of isoleucine in cerebrospinal fluid. hp.json High levels of isoleucine in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500193 UBERON:0001068 biolink:AnatomicalEntity skin of back A zone of skin that is part of a back [Automatically generated definition]. EMAPA:36392|FMA:22985|SCTID:181492002|FMA:10462|MA:0000498 hp.json back skin|skin, dorsal region|zone of skin of back|skin, dorsal region|back zone of skin http://purl.obolibrary.org/obo/UBERON_0001068 pheno_slim GO:0070341 biolink:BiologicalProcess fat cell proliferation The multiplication or reproduction of fat cells by cell division, resulting in the expansion of their population. A fat cell is an animal connective tissue cell specialized for the synthesis and storage of fat. hp.json adipocyte proliferation|adipose cell proliferation http://purl.obolibrary.org/obo/GO_0070341 HP:0500190 biolink:PhenotypicFeature Decreased CSF leucine concentration Abnormally decreased levels of leucine in the cerebrospinal fluid. hp.json Low leucine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500190 UBERON:0001067 biolink:AnatomicalEntity vertebral arch joint A synovial joint between the prezygapophysis of one vertebra and the postzygapophysis of the vertebra directly above it. There are two facet joints in each spinal motion segment[WP]. FMA:10447|MESH:D021801|MA:0001513|NCIT:C32577|OpenCyc:Mx4rvorHEpwpEbGdrcN5Y29ycA|UMLS:C0224521|GAID:275 hp.json joint of vertebral arch|articulationes zygapophysiales|zygapophysial joint|facet joint|joint of vertebral articular process|zygapophyseal joint|spinal facet joint http://purl.obolibrary.org/obo/UBERON_0001067 pheno_slim|uberon_slim HP:0500191 biolink:PhenotypicFeature Increased CSF leucine concentration Abnormally increased levels of leucine in cerebrospinal fluid. hp.json High leucine levels in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0500191 HP:0500173 biolink:PhenotypicFeature Reflex asystolic syncope A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure. hp.json Reflex anoxic seizures|Reflex anoxic seizure http://purl.obolibrary.org/obo/HP_0500173 PR:P35918 biolink:Protein vascular endothelial growth factor receptor 2 (mouse) A vascular endothelial growth factor receptor 2 that is encoded in the genome of mouse. UniProtKB:P35918 hp.json FLK-1 (mouse)|VEGFR-2 (mouse)|mKDR|kinase NYK (mouse)|Flk1|Flk-1|Kdr|fetal liver kinase 1 (mouse)|protein-tyrosine kinase receptor flk-1 (mouse)|CD309 (mouse) http://purl.obolibrary.org/obo/PR_P35918 UBERON:0001051 biolink:AnatomicalEntity hypopharynx Bottom part of the pharynx that connects to the esophagus. EV:0100068|EFO:0001388|EHDAA2:0004574|BTO:0001740|VHOG:0000445|GAID:338|MESH:D007013|UMLS:C0020629|OpenCyc:Mx4rvq5O0JwpEbGdrcN5Y29ycA|FMA:54880|MA:0001796|NCIT:C12246|CALOHA:TS-2020 hp.json pars laryngea pharyngis|laryngopharynx|pars laryngea pharyngis|laryngeal pharynx http://purl.obolibrary.org/obo/UBERON_0001051 pheno_slim|efo_slim|uberon_slim UBERON:0001052 biolink:AnatomicalEntity rectum The terminal portion of the intestinal tube, terminating with the anus. OpenCyc:Mx4rvVjaU5wpEbGdrcN5Y29ycA|BTO:0001158|CALOHA:TS-1180|SCTID:181261002|EHDAA2:0001592|XAO:0000238|FMA:14544|VHOG:0001751|MAT:0000050|MA:0000336|EFO:0000848|NCIT:C12390|EHDAA:5836|Wikipedia:Rectum|EMAPA:17896|EV:0100081|GAID:311|MESH:D012007|MIAA:0000050|UMLS:C0034896|galen:Rectum|AAO:0010401 hp.json terminal portion of large intestine|intestinum rectum|rectal sac|terminal portion of intestine http://purl.obolibrary.org/obo/UBERON_0001052 pheno_slim|efo_slim|human_reference_atlas|uberon_slim HP:0500181 biolink:PhenotypicFeature Hypertaurinemia An increased amount of taurine in the blood. hp.json Elevated serum taurine levels|Increased circulating taurine levels in the blood http://purl.obolibrary.org/obo/HP_0500181 HP:0500182 biolink:PhenotypicFeature Hypotaurinemia A decreased amount of taurine in the blood. hp.json Reduced taurine levels in the blood|Decreased circulating taurine levels|Lower blood levels of taurine http://purl.obolibrary.org/obo/HP_0500182 HP:0500180 biolink:PhenotypicFeature Abnormal circulating amino sulfonic acid concentration hp.json http://purl.obolibrary.org/obo/HP_0500180 HP:0500163 biolink:PhenotypicFeature Hypoornithinemia An abnormal decrease in ornithine in the blood. hp.json Decreased blood ornithine concentrations|Low blood ornithine levels http://purl.obolibrary.org/obo/HP_0500163 HP:0500164 biolink:PhenotypicFeature Abnormal blood carbon dioxide level An abnormality of carbon dioxide (CO2) in the arterial blood. hp.json Abnormal blood carbon dioxide level|Abnormal CO2 levels in blood http://purl.obolibrary.org/obo/HP_0500164 HP:0500161 biolink:PhenotypicFeature Increased level of carnosine in blood An increased amount of carnosine in the blood. hp.json Increased blood carnosine concenrtation|High blood carnosine levels http://purl.obolibrary.org/obo/HP_0500161 HP:0500162 biolink:PhenotypicFeature Decreased level of carnosine in blood A decreased amount of carnosine in bood. hp.json Decreased blood carnosine concentration|Low blood carnosine levels http://purl.obolibrary.org/obo/HP_0500162 HP:0500167 biolink:PhenotypicFeature Hypergastrinemia An elevated amount of gastrin in the blood. hp.json Elevated gastrin in the blood|Increased blood gastrin http://purl.obolibrary.org/obo/HP_0500167 HP:0500165 biolink:PhenotypicFeature Abnormal blood oxygen level An abnormality of the partial pressure of oxygen in the arterial blood. hp.json Abnormal O2 blood concentration|Abnormal blood oxygen levels|Abnormal blood O2 level http://purl.obolibrary.org/obo/HP_0500165 HP:0500166 biolink:PhenotypicFeature Abnormal circulating gastrin concentration An abnormal concentration of gastrin in the blood. hp.json Abnormal circulating gastrin level http://purl.obolibrary.org/obo/HP_0500166 UBERON:0001040 biolink:AnatomicalEntity yolk sac A sac-like expansion of the ventral wall of the intestine, narrowed into a yolk stalk near the body[Hyman's]. Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes[WP]. FMA:87180|MESH:D015017|EHDAA2:0002212|GAID:1301|EMAPA:16085|EHDAA:164|VHOG:0000830|EFO:0003078|UMLS:C0043425|BTO:0001471|Wikipedia:Yolk_sac|SCTID:362845002|CALOHA:TS-1130|NCIT:C14128 hp.json saccus vitellinus|vesicula umbilicalis|saccus vitellinus|vesicula umbilicalis http://purl.obolibrary.org/obo/UBERON_0001040 pheno_slim|efo_slim|uberon_slim UBERON:0001042 biolink:AnatomicalEntity chordate pharynx A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. TAO:0000056|EMAPA:16706|BTO:0001049|Wikipedia:Pharynx|UMLS:C0031354|EV:0100065|FMA:46688|SCTID:181211006|EHDAA:2947|MESH:A03.867|CALOHA:TS-0785|OpenCyc:Mx4rvViv7ZwpEbGdrcN5Y29ycA|MESH:D010614|XAO:0003227|VHOG:0000462|AAO:0000967|EFO:0000836|EHDAA2:0001458|MA:0000432|NCIT:C12425|ZFA:0000056|GAID:155|galen:Pharynx hp.json pharynx http://purl.obolibrary.org/obo/UBERON_0001042 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0001041 biolink:AnatomicalEntity foregut Anterior subdivision of a digestive tract. EHDAA:520|FMA:45616|Wikipedia:Foregut|EMAPA:16548|AAO:0011042|MA:0001526|VHOG:0000285|NCIT:C34180|BTO:0000507|TGMA:0001014|BILA:0000085|SCTID:361409009|UMLS:C0231051|EHDAA2:0000557|XAO:0000232|FBbt:00005379 hp.json proenteron|praeenteron|praeenteron|proenteron http://purl.obolibrary.org/obo/UBERON_0001041 pheno_slim|developmental_classification|uberon_slim UBERON:0001048 biolink:AnatomicalEntity primordium Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. AEO:0000171|Wikipedia:Primordium|FMA:86589|XAO:0003043|BTO:0001886|FBbt:00005495|EFO:0001652|NCIT:C34275|MAT:0000482|UMLS:C0678727|EHDAA2:0003171 hp.json future organ|bud|placode|primordia|rudiment http://purl.obolibrary.org/obo/UBERON_0001048 pheno_slim|efo_slim|uberon_slim UBERON:0001049 biolink:AnatomicalEntity neural tube In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. MESH:D054259|ZFA:0001135|NCIT:C34226|UMLS:C0231024|EMAPA:16164|TAO:0001135|VHOG:0000307|DHBA:10154|MAT:0000069|CALOHA:TS-2371|EHDAA:908|EHDAA2:0001254|FMA:293882|MIAA:0000069|BTO:0001057|EMAPA:16757|AAO:0010617|EHDAA:2869|Wikipedia:Neural_tube|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1365|XAO:0003204|SCTID:362852000 hp.json tubus neuralis|presumptive central nervous system|tubus neuralis|neural primordium http://purl.obolibrary.org/obo/UBERON_0001049 vertebrate_core|pheno_slim|uberon_slim UBERON:0001044 biolink:AnatomicalEntity saliva-secreting gland Saliva-secreting exocrine glands of the oral cavity[GO]. EHDAA2:0001775|EHDAA:7987|EV:0100059|FMA:9597|OpenCyc:Mx4rvVjl5ZwpEbGdrcN5Y29ycA|GAID:937|MAT:0000079|BTO:0001203|galen:SalivaryGland|FBbt:00005382|MIAA:0000079|VHOG:0000376|UMLS:C0036098|EFO:0000859|CALOHA:TS-0892|MA:0000346|NCIT:C12426|EMAPA:17751|MESH:D012469 hp.json salivary gland|glandulae salivariae http://purl.obolibrary.org/obo/UBERON_0001044 functional_classification|organ_slim|pheno_slim|efo_slim|uberon_slim HP:0500170 biolink:PhenotypicFeature Abnormal concentration of acylcarnitine in the urine An abnormal amount of acylcarnitine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0500170 UBERON:0001043 biolink:AnatomicalEntity esophagus Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). Wikipedia:Esophagus|MA:0000352|NCIT:C12389|MAT:0000048|EV:0100069|FMA:7131|AAO:0000145|MIAA:0000048|CALOHA:TS-0700|EHDAA2:0001285|GAID:291|OpenCyc:Mx4rvVj9Q5wpEbGdrcN5Y29ycA|ANISEED:1235301|EHDAA:2937|UMLS:C0014876|EMAPA:16833|XAO:0000127|ZFA:0000204|SCTID:181245004|BTO:0000959|VHOG:0000450|MESH:D004947|EFO:0000835|galen:Esophagus|TAO:0000204 hp.json oesophagus|gullet http://purl.obolibrary.org/obo/UBERON_0001043 organ_slim|pheno_slim|efo_slim|uberon_slim|vertebrate_core|major_organ UBERON:0001046 biolink:AnatomicalEntity hindgut The caudalmost subdivision of a digestive tract. Wikipedia:Hindgut|FMA:45618|UMLS:C0231053|TGMA:0001020|VHOG:0000459|BTO:0000510|NCIT:C34188|EMAPA:16715|FBbt:00005384|MA:0001527|AAO:0011052|XAO:0000104|BILA:0000087|EHDAA2:0000779|EHDAA:975|SCTID:362856002 hp.json metenteron|metenteron http://purl.obolibrary.org/obo/UBERON_0001046 pheno_slim|developmental_classification|uberon_slim UBERON:0001045 biolink:AnatomicalEntity midgut Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. MA:0001564|FMA:45617|EHDAA:983|VHOG:0000290|BTO:0000863|NCIT:C34210|EFO:0001950|FBbt:00005383|SCTID:361410004|UMLS:C0231052|EHDAA2:0001185|Wikipedia:Midgut|BILA:0000086|XAO:0000103|TGMA:0001036|EMAPA:16255 hp.json mesenteron|mesenteron http://purl.obolibrary.org/obo/UBERON_0001045 pheno_slim|developmental_classification|efo_slim|uberon_slim HP:0030290 biolink:PhenotypicFeature Unossified sacrum Lack of ossification of the sacrum. UMLS:C2675562 hp.json Absence of sacrum ossification http://purl.obolibrary.org/obo/HP_0030290 UBERON:0005908 biolink:AnatomicalEntity conjunctival sac A serous sac which is the aggregate of the conjunctiva plus the conjunctival space. FMA:20291|EMAPA:18233 hp.json subbrillar sac|conjunctiva serous sac http://purl.obolibrary.org/obo/UBERON_0005908 HP:0030291 biolink:PhenotypicFeature Lower-limb metaphyseal irregularity Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. UMLS:C4022534 hp.json http://purl.obolibrary.org/obo/HP_0030291 UBERON:0005906 biolink:AnatomicalEntity serous sac Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA]. EMAPA:16060|MA:0000005|FMA:9689|SCTID:362890006 hp.json http://purl.obolibrary.org/obo/UBERON_0005906 HP:0030292 biolink:PhenotypicFeature Tibial metaphyseal irregularity Irregularity of the normally smooth surface of a metaphysis of a tibia. UMLS:C4022533 hp.json http://purl.obolibrary.org/obo/HP_0030292 UBERON:0005904 biolink:AnatomicalEntity duct of male reproductive system Any of the ducts that are part of a male reproductive system. hp.json http://purl.obolibrary.org/obo/UBERON_0005904 grouping_class UBERON:0005903 biolink:AnatomicalEntity duct of seminal vesicle Each seminal vesicle consists of a single tube, coiled upon itself, and giving off several irregular cecal diverticula; the separate coils, as well as the diverticula, are connected together by fibrous tissue. When uncoiled, the tube is about the diameter of a quill, and varies in length from 10 to 15 cm.; it ends posteriorly in a cul-de-sac; its anterior extremity becomes constricted into a narrow straight duct called the excretory duct of seminal gland (or duct of the seminal vesicle), which joins with the corresponding ductus deferens to form the ejaculatory duct[WP]. EMAPA:29282|FMA:19473 hp.json ductus excretorius (vesicula seminalis)|excretory duct of seminal gland|ductus excretorius glandulae vesiculosae|ductus excretorius glandulae vesiculosae|seminal vesicle duct http://purl.obolibrary.org/obo/UBERON_0005903 GO:0021543 biolink:BiologicalProcess pallium development The process whose specific outcome is the progression of the pallium over time, from its formation to the mature structure. The pallium is the roof region of the telencephalon. hp.json http://purl.obolibrary.org/obo/GO_0021543 UBERON:0005902 biolink:AnatomicalEntity occipital region Anatomical cluster that is located in the posterior region of the cranium and forms the margin of the foramen magnum and occipital condyles. AAO:0010199|XAO:0003173|BTO:0004675|ZFA:0001414|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2431|TAO:0001414|FMA:49187|SCTID:362618001 hp.json occipital region of head|occipital part of head|back of head|basicranial region http://purl.obolibrary.org/obo/UBERON_0005902 HP:0030297 biolink:PhenotypicFeature Metaphyseal chondromatosis of ulna UMLS:C4022528 hp.json http://purl.obolibrary.org/obo/HP_0030297 HP:0030298 biolink:PhenotypicFeature Metaphyseal chondromatosis of humerus UMLS:C4021860 hp.json http://purl.obolibrary.org/obo/HP_0030298 HP:0030299 biolink:PhenotypicFeature Distal femoral metaphyseal abnormality An anomaly of the metaphysis of the distal femur (close to the knee). UMLS:C4022527 hp.json Abnormality of wide portion of outermost thighbone http://purl.obolibrary.org/obo/HP_0030299 HP:0030293 biolink:PhenotypicFeature Fibular metaphyseal irregularity Irregularity of the normally smooth surface of a metaphysis of a fibula. UMLS:C4022532 hp.json Irregularity of wide portion of calf bone http://purl.obolibrary.org/obo/HP_0030293 HP:0030294 biolink:PhenotypicFeature Metaphyseal chondromatosis of tibia UMLS:C4022531 hp.json http://purl.obolibrary.org/obo/HP_0030294 HP:0030295 biolink:PhenotypicFeature Metaphyseal chondromatosis of femur UMLS:C4022530 hp.json http://purl.obolibrary.org/obo/HP_0030295 HP:0030296 biolink:PhenotypicFeature Metaphyseal chondromatosis of radius UMLS:C4022529 hp.json http://purl.obolibrary.org/obo/HP_0030296 CHEBI:58375 biolink:ChemicalSubstance trans-4-hydroxy-L-proline zwitterion An L-alpha-amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of trans-4-hydroxy-L-proline; major species at pH 7.3. hp.json (2S,4R)-4-hydroxypyrrolidinium-2-carboxylate|trans-4-hydroxy-L-proline|hydroxyproline zwitterion http://purl.obolibrary.org/obo/CHEBI_58375 3_STAR GO:0021545 biolink:BiologicalProcess cranial nerve development The process whose specific outcome is the progression of the cranial nerves over time, from its formation to the mature structure. The cranial nerves are composed of twelve pairs of nerves that emanate from the nervous tissue of the hindbrain. These nerves are sensory, motor, or mixed in nature, and provide the motor and general sensory innervation of the head, neck and viscera. They mediate vision, hearing, olfaction and taste and carry the parasympathetic innervation of the autonomic ganglia that control visceral functions. hp.json http://purl.obolibrary.org/obo/GO_0021545 UBERON:0005911 biolink:AnatomicalEntity endo-epithelium Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]. FMA:69065 hp.json endoepithelium|endoderm-derived epithelium http://purl.obolibrary.org/obo/UBERON_0005911 GO:0021546 biolink:BiologicalProcess rhombomere development The process whose specific outcome is the progression of the rhombomere over time, from its formation to the mature structure. Rhombomeres are transverse segments of the developing rhombencephalon. Rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates. hp.json http://purl.obolibrary.org/obo/GO_0021546 GO:0021547 biolink:BiologicalProcess midbrain-hindbrain boundary initiation The regionalization process that gives rise to the midbrain-hindbrain boundary. The midbrain-hindbrain domain of the embryonic brain is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages. An organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate. hp.json midbrain-hindbrain boundary formation|isthmus biosynthesis|isthmus formation|MHB formation|MHB biosynthesis|midbrain-hindbrain boundary biosynthesis http://purl.obolibrary.org/obo/GO_0021547 GO:0021548 biolink:BiologicalProcess pons development The process whose specific outcome is the progression of the pons over time, from its formation to the mature structure. The pons lies above the medulla and next to the cerebellum. The pons conveys information about movement from the cerebral hemisphere to the cerebellum. hp.json http://purl.obolibrary.org/obo/GO_0021548 GO:0021532 biolink:BiologicalProcess neural tube patterning The regionalization process that regulates the coordinated growth that establishes the non-random spatial arrangement of the neural tube. hp.json http://purl.obolibrary.org/obo/GO_0021532 GO:0021533 biolink:BiologicalProcess cell differentiation in hindbrain The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mature cells of the hindbrain. Differentiation includes the processes involved in commitment of a cell to a specific fate. hp.json http://purl.obolibrary.org/obo/GO_0021533 GO:0021534 biolink:BiologicalProcess cell proliferation in hindbrain The multiplication or reproduction of cells, resulting in the expansion of a cell population in the hindbrain. hp.json http://purl.obolibrary.org/obo/GO_0021534 GO:0021535 biolink:BiologicalProcess cell migration in hindbrain The orderly movement of a cell that will reside in the hindbrain. hp.json http://purl.obolibrary.org/obo/GO_0021535 GO:0021536 biolink:BiologicalProcess diencephalon development The process whose specific outcome is the progression of the diencephalon over time, from its formation to the mature structure. The diencephalon is the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex. hp.json http://purl.obolibrary.org/obo/GO_0021536 GO:0021537 biolink:BiologicalProcess telencephalon development The process whose specific outcome is the progression of the telencephalon over time, from its formation to the mature structure. The telencephalon is the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived. hp.json cerebrum development http://purl.obolibrary.org/obo/GO_0021537 GO:0021522 biolink:BiologicalProcess spinal cord motor neuron differentiation The process in which neuroepithelial cells in the ventral neural tube acquire specialized structural and/or functional features of motor neurons. Motor neurons innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses from the brain to the periphery. Differentiation includes the processes involved in commitment of a cell to a specific fate. hp.json http://purl.obolibrary.org/obo/GO_0021522 GO:0008544 biolink:BiologicalProcess epidermis development The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. hp.json hypodermis development http://purl.obolibrary.org/obo/GO_0008544 UBERON:2001626 biolink:AnatomicalEntity premaxillary tooth Tooth that is attached to the premaxilla. hp.json http://purl.obolibrary.org/obo/UBERON_2001626 GO:0033500 biolink:BiologicalProcess carbohydrate homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0033500 GO:0021510 biolink:BiologicalProcess spinal cord development The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues. hp.json http://purl.obolibrary.org/obo/GO_0021510 GO:0021514 biolink:BiologicalProcess ventral spinal cord interneuron differentiation The process in which neuroepithelial cells in the neural tube acquire specialized structural and/or functional features of ventral spinal cord interneurons. Ventral spinal cord interneurons are cells located in the ventral portion of the spinal cord that transmit signals between sensory and motor neurons and are required for reflexive responses. Differentiation includes the processes involved in commitment of a cell to a specific fate. hp.json http://purl.obolibrary.org/obo/GO_0021514 GO:0021515 biolink:BiologicalProcess cell differentiation in spinal cord The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells of the spinal cord. Differentiation includes the processes involved in commitment of a cell to a specific fate. hp.json http://purl.obolibrary.org/obo/GO_0021515 GO:0021517 biolink:BiologicalProcess ventral spinal cord development The process whose specific outcome is the progression of the ventral region of the spinal cord over time, from its formation to the mature structure. The neurons of the ventral region of the mature spinal cord participate in motor output. hp.json http://purl.obolibrary.org/obo/GO_0021517 GO:0008528 biolink:MolecularActivity G protein-coupled peptide receptor activity Combining with a peptide and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. hp.json peptide receptor activity, G-protein coupled|peptide receptor activity, G protein coupled|G-protein coupled peptide receptor activity|G protein coupled peptide receptor activity http://purl.obolibrary.org/obo/GO_0008528 GO:0008527 biolink:MolecularActivity taste receptor activity Combining with soluble compounds to initiate a change in cell activity. These receptors are responsible for the sense of taste. hp.json gustatory receptor http://purl.obolibrary.org/obo/GO_0008527 UBERON:0005946 biolink:AnatomicalEntity outflow tract of atrium An outflow tract that is part of a cardiac atrium. FMA:14141 hp.json outflow part of atrium http://purl.obolibrary.org/obo/UBERON_0005946 HP:0030253 biolink:PhenotypicFeature Defective T cell proliferation A reduced ability of a T cell population to expand by cell division following T cell activation. UMLS:C4022557 hp.json http://purl.obolibrary.org/obo/HP_0030253 HP:0030254 biolink:PhenotypicFeature Nail bed hemorrhage Small areas of bleeding (hemorrhage) under the fingernail or toenail. UMLS:C0877087 hp.json Nail bed haemorrhage http://purl.obolibrary.org/obo/HP_0030254 HP:0030255 biolink:PhenotypicFeature Large intestinal polyposis The presence of multiple polyps in the large intestine. UMLS:C4022556 hp.json http://purl.obolibrary.org/obo/HP_0030255 HP:0030256 biolink:PhenotypicFeature Small intestinal polyposis The presence of multiple polyps in the small intestine. UMLS:C4022555 hp.json http://purl.obolibrary.org/obo/HP_0030256 HP:0030250 biolink:PhenotypicFeature Pulmonary granulomatosis The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung. UMLS:C0856628 hp.json http://purl.obolibrary.org/obo/HP_0030250 HP:0030251 biolink:PhenotypicFeature Absence of memory B cells Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. UMLS:C4022559 hp.json http://purl.obolibrary.org/obo/HP_0030251 HP:0030252 biolink:PhenotypicFeature Absent circulating B cells Complete lack of mature B cells, that is, of B cells that have left the bone marrow. UMLS:C4022558 hp.json Absence of mature B cells http://purl.obolibrary.org/obo/HP_0030252 HP:0030257 biolink:PhenotypicFeature Freckled genitalia One or more brown punctate macules on the skin of the genitalia. UMLS:C4021040 hp.json Freckled genitalia|Genitalia, ephelides http://purl.obolibrary.org/obo/HP_0030257 HP:0030258 biolink:PhenotypicFeature Hyperpigmented genitalia Localized or generalized increased genital pigmentation. UMLS:C4022554|UMLS:C4020713 hp.json Increased genital pigmentation|Penile melanosis http://purl.obolibrary.org/obo/HP_0030258 HP:0030259 biolink:PhenotypicFeature Hypopigmented genitalia Localized or generalized decreased genital pigmentation. UMLS:C4022553 hp.json Decreased genital pigmentation http://purl.obolibrary.org/obo/HP_0030259 UBERON:0005956 biolink:AnatomicalEntity outflow part of left ventricle Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. EMAPA:37925|SCTID:264070001|FMA:9473|Wikipedia:Aortic_vestibule hp.json heart left ventricle outflow tract|LVOT|left ventricular outflow|vestibulum aortae|aortic vestibule|outflow tract of left ventricle|aortic vestibule|Sibson vestibule|left ventricular outflow tract http://purl.obolibrary.org/obo/UBERON_0005956 pheno_slim GO:0021501 biolink:BiologicalProcess prechordal plate formation The formation of the prechordal plate. The prechordal plate is a thickening of the endoderm at the cranial end of the primitive streak formed by the involution of Spemann's organizer cells. The prechordal plate and the notochord induce the formation of the neural plate from the overlying ectodermal cells. hp.json http://purl.obolibrary.org/obo/GO_0021501 UBERON:0005953 biolink:AnatomicalEntity outflow part of right ventricle Anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk. UMLS:C1881209|SCTID:244379003|NCIT:C61368|EMAPA:37926|FMA:7216 hp.json infundibulum of right ventricle|right ventricle pulmonary outflow tract|infundibulum|pulmonary conus|pulmonary cone|right ventricular outflow tract|arterial cone|RVOT|conus arteriosus (infundibulum)|pulmonary conus|outflow tract of right ventricle|conus arteriosus|infundibulum|infundibulum of right ventricle http://purl.obolibrary.org/obo/UBERON_0005953 HP:0030264 biolink:PhenotypicFeature Webbed penis Ventral skinfold extending from penis to scrotum. SNOMEDCT_US:253852007|UMLS:C0431670 hp.json Webbed penis http://purl.obolibrary.org/obo/HP_0030264 HP:0030265 biolink:PhenotypicFeature Wide penis Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. UMLS:C4022551 hp.json Wide penis http://purl.obolibrary.org/obo/HP_0030265 HP:0030266 biolink:PhenotypicFeature obsolete Abnormality of the sacroiliac notch hp.json http://purl.obolibrary.org/obo/HP_0030266 HP:0030267 biolink:PhenotypicFeature Calcification of the interosseus membrane of the forearm Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna. UMLS:C4022549 hp.json http://purl.obolibrary.org/obo/HP_0030267 HP:0030260 biolink:PhenotypicFeature Microphallus Length of penis more than 2 SD below the mean for age accompanied by hypospadias. SNOMEDCT_US:276333003|UMLS:C0240701 hp.json http://purl.obolibrary.org/obo/HP_0030260 HP:0030261 biolink:PhenotypicFeature Absent penis Lack of recognizable penile structures. SNOMEDCT_US:59981001|UMLS:C0555231|SNOMEDCT_US:204908001 hp.json Penis aplasia|Aplasia of the penis|Absent penis|Aphallia http://purl.obolibrary.org/obo/HP_0030261 HP:0030262 biolink:PhenotypicFeature Narrow penis Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age. UMLS:C4022552 hp.json Narrow penis http://purl.obolibrary.org/obo/HP_0030262 HP:0030263 biolink:PhenotypicFeature Torsion of the penis Rotated position of the glans, with or without the penile shaft, of 30 degrees or more. UMLS:C1407019 hp.json http://purl.obolibrary.org/obo/HP_0030263 GO:0070507 biolink:BiologicalProcess regulation of microtubule cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. hp.json regulation of microtubule cytoskeleton organisation|regulation of microtubule dynamics http://purl.obolibrary.org/obo/GO_0070507 HP:0030268 biolink:PhenotypicFeature Hyperplastic callus formation Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. UMLS:C4022548 hp.json http://purl.obolibrary.org/obo/HP_0030268 HP:0030269 biolink:PhenotypicFeature Increased circulating insulin-like growth factor 1 concentration An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation. UMLS:C2676198 hp.json Increased serum IGF1|Increased serum insulin-like growth factor 1|Elevated serum IGF1 http://purl.obolibrary.org/obo/HP_0030269 UBERON:0005945 biolink:AnatomicalEntity neurocranial trabecula ZFA:0001321|TAO:0001321|EFO:0003677 hp.json trabecular cartilage|neurocranial trabeculae|trabecula http://purl.obolibrary.org/obo/UBERON_0005945 efo_slim UBERON:0005944 biolink:AnatomicalEntity axial skeleton plus cranial skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. EMAPA:17214|UMLS:C0222645|AAO:0000963|SCTID:361725000|XAO:0004011|EMAPA:18043|MA:0000308|NCIT:C32172|VSAO:0000056|Wikipedia:Axial_skeleton hp.json skeleton axiale|skeleton axiale http://purl.obolibrary.org/obo/UBERON_0005944 pheno_slim|uberon_slim UBERON:0005928 biolink:AnatomicalEntity external naris A naris that provides one of the small external openings of the head that give passage to air for breathing. EMAPA:17848|EHDAA2:0001275|VHOG:0000544|FMA:59645|UMLS:C0595944|OpenCyc:Mx4rvViCLpwpEbGdrcN5Y29ycA|EHDAA:9085|AAO:0010358|ZFA:0000550|MA:0001320|NCIT:C33178|XAO:0003033|AAO:0000983|TAO:0000550|AAO:0000024 hp.json anterior nares|blowhole|naris|external nares|anterior naris|nostril http://purl.obolibrary.org/obo/UBERON_0005928 vertebrate_core|pheno_slim HP:0030270 biolink:PhenotypicFeature Elevated red cell adenosine deaminase level Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. UMLS:C4022547 hp.json http://purl.obolibrary.org/obo/HP_0030270 CHEBI:48999 biolink:ChemicalSubstance 4-hydroxyphenylacetate A monocarboxylic acid anion that is obtained by removal of a proton from the carboxylic acid group of 4-hydroxyphenylacetic acid. Reaxys:3905591|MetaCyc:4-HYDROXYPHENYLACETATE hp.json 2-(4-hydroxyphenyl)ethanoate|(4-hydroxyphenyl)acetate|4-hydroxybenzeneacetate|4-hydroxyphenylacetate|(p-hydroxyphenyl)acetate http://purl.obolibrary.org/obo/CHEBI_48999 3_STAR HP:0030275 biolink:PhenotypicFeature Ectopic scrotum Scrotum in a position other than the usual position inferior to the base of the penis. UMLS:C4022542 hp.json Abnormal scrotum position http://purl.obolibrary.org/obo/HP_0030275 GO:0045578 biolink:BiologicalProcess negative regulation of B cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation. hp.json down regulation of B cell differentiation|inhibition of B cell differentiation|negative regulation of B cell development|down-regulation of B cell differentiation|negative regulation of B-cell differentiation|negative regulation of B lymphocyte differentiation|negative regulation of B-lymphocyte differentiation|downregulation of B cell differentiation http://purl.obolibrary.org/obo/GO_0045578 HP:0030276 biolink:PhenotypicFeature obsolete Small scrotum hp.json http://purl.obolibrary.org/obo/HP_0030276 GO:0045579 biolink:BiologicalProcess positive regulation of B cell differentiation Any process that activates or increases the frequency, rate or extent of B cell differentiation. hp.json positive regulation of B-lymphocyte differentiation|upregulation of B cell differentiation|positive regulation of B cell development|stimulation of B cell differentiation|up regulation of B cell differentiation|positive regulation of B-cell differentiation|positive regulation of B lymphocyte differentiation|activation of B cell differentiation|up-regulation of B cell differentiation http://purl.obolibrary.org/obo/GO_0045579 HP:0030277 biolink:PhenotypicFeature Abnormal vertebral pedicle morphology Abnormal morphology of a vertebral pedical. UMLS:C4022541 hp.json http://purl.obolibrary.org/obo/HP_0030277 HP:0030278 biolink:PhenotypicFeature Hypoplastic vertebral pedicle Underdeveloped vertebral pedicle. UMLS:C4022540 hp.json http://purl.obolibrary.org/obo/HP_0030278 GO:0045577 biolink:BiologicalProcess regulation of B cell differentiation Any process that modulates the frequency, rate or extent of B cell differentiation. hp.json regulation of B-cell differentiation|regulation of B lymphocyte differentiation|regulation of B-lymphocyte differentiation|regulation of B cell development http://purl.obolibrary.org/obo/GO_0045577 HP:0030271 biolink:PhenotypicFeature Reduced erythrocyte 2,3-diphosphoglycerate concentration This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. UMLS:C4022546 hp.json http://purl.obolibrary.org/obo/HP_0030271 HP:0030272 biolink:PhenotypicFeature Abnormal erythrocyte enzyme level An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. UMLS:C4022545 hp.json http://purl.obolibrary.org/obo/HP_0030272 HP:0030273 biolink:PhenotypicFeature Reduced red cell adenosine deaminase level Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. UMLS:C4022544 hp.json http://purl.obolibrary.org/obo/HP_0030273 HP:0030274 biolink:PhenotypicFeature Accessory scrotum Additional scrotum, or part of a scrotum in an abnormal location. UMLS:C4022543 hp.json Extra scrotum http://purl.obolibrary.org/obo/HP_0030274 HP:0030279 biolink:PhenotypicFeature Hypoplastic L5 vertebral pedicle Underdeveloped pedicle of the fifth lumbar vertebra. UMLS:C4022539 hp.json http://purl.obolibrary.org/obo/HP_0030279 CHEBI:58314 biolink:ChemicalSubstance (2R)-2-hydroxy monocarboxylic acid anion A hydroxy monocarboxylic acid anion where the hydroxy group is placed at position 2 (alpha to the carboxy group) and has (R)-stereochemistry; major species at pH 7.3. MetaCyc:2R-hydroxy-carboxylates hp.json (2R)-2-hydroxy monocarboxylic acid anions|(2R)-alpha-hydroxy monocarboxylic acid anion|(R)-2-hydroxyacid anions|(R)-2-hydroxyacid anion|a (2R)-2-hydroxycarboxylate|(2R)-2-hydroxycarboxylate|(2R)-alpha-hydroxy monocarboxylic acid anions http://purl.obolibrary.org/obo/CHEBI_58314 3_STAR GO:0045581 biolink:BiologicalProcess negative regulation of T cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation. hp.json negative regulation of T cell development|inhibition of T cell differentiation|down-regulation of T cell differentiation|negative regulation of T-cell differentiation|negative regulation of T lymphocyte differentiation|negative regulation of T-lymphocyte differentiation|downregulation of T cell differentiation|down regulation of T cell differentiation http://purl.obolibrary.org/obo/GO_0045581 GO:0045582 biolink:BiologicalProcess positive regulation of T cell differentiation Any process that activates or increases the frequency, rate or extent of T cell differentiation. hp.json upregulation of T cell differentiation|positive regulation of T cell development|up regulation of T cell differentiation|stimulation of T cell differentiation|positive regulation of T-cell differentiation|positive regulation of T lymphocyte differentiation|up-regulation of T cell differentiation|activation of T cell differentiation|positive regulation of T-lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0045582 HP:0030280 biolink:PhenotypicFeature Rib gap Radiolucent focal defect of a rib shaft. SNOMEDCT_US:249705009|UMLS:C0426827 hp.json Rib gap http://purl.obolibrary.org/obo/HP_0030280 GO:0045580 biolink:BiologicalProcess regulation of T cell differentiation Any process that modulates the frequency, rate or extent of T cell differentiation. hp.json regulation of T-cell differentiation|regulation of T lymphocyte differentiation|regulation of T-lymphocyte differentiation|regulation of T cell development http://purl.obolibrary.org/obo/GO_0045580 HP:0030281 biolink:PhenotypicFeature Cervical C3/C4 vertebral fusion Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. UMLS:C4022538 hp.json http://purl.obolibrary.org/obo/HP_0030281 UBERON:0005913 biolink:AnatomicalEntity zone of bone organ FMA:10483 hp.json bone organ zone http://purl.obolibrary.org/obo/UBERON_0005913 HP:0030286 biolink:PhenotypicFeature Atrophic superior cerebellar peduncle Atrophy of the superior cerebellar peduncle. UMLS:C4022535 hp.json http://purl.obolibrary.org/obo/HP_0030286 HP:0030289 biolink:PhenotypicFeature Flattened femoral epiphysis An abnormal flattening of an epiphysis of femur. UMLS:C1850642 hp.json Flattended end part of thigh bone http://purl.obolibrary.org/obo/HP_0030289 HP:0030282 biolink:PhenotypicFeature Posterior rib gap Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest. UMLS:C1842696 hp.json Dorsal rib defect http://purl.obolibrary.org/obo/HP_0030282 HP:0030283 biolink:PhenotypicFeature Partial absence of the septum pellucidum Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain. SNOMEDCT_US:422474003|UMLS:C1827299 hp.json http://purl.obolibrary.org/obo/HP_0030283 HP:0030284 biolink:PhenotypicFeature Triangular tongue A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. UMLS:C4022537 hp.json Triangular tongue|Triangle shaped tongue http://purl.obolibrary.org/obo/HP_0030284 HP:0030285 biolink:PhenotypicFeature Splayed superior cerebellar peduncle Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle. UMLS:C4022536 hp.json http://purl.obolibrary.org/obo/HP_0030285 GO:0070527 biolink:BiologicalProcess platelet aggregation The adhesion of one platelet to one or more other platelets via adhesion molecules. hp.json blood platelet aggregation|thrombocyte aggregation http://purl.obolibrary.org/obo/GO_0070527 HP:0032872 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with illusion A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032872 HP:0030210 biolink:PhenotypicFeature Anti-muscle-specific tyrosine kinase antibody The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab). UMLS:C4021044 hp.json Muscle specific kinase antibody positivity|Anti-muscle-specific tyrosine kinase antibody|Anti-MUSK antibodies http://purl.obolibrary.org/obo/HP_0030210 HP:0032871 biolink:PhenotypicFeature Focal aware cognitive seizure with hallucination A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032871 HP:0032874 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with auditory agnosia A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032874 HP:0030211 biolink:PhenotypicFeature Slow pupillary light response Reduced velocity and acceleration in the pupillary light response. UMLS:C4022576 hp.json Sluggish pupillary reaction http://purl.obolibrary.org/obo/HP_0030211 HP:0030212 biolink:PhenotypicFeature Collectionism Excessive or pathological tendency to save and collect possessions. UMLS:C0424290|SNOMEDCT_US:247968005 hp.json Compulsive hoarding http://purl.obolibrary.org/obo/HP_0030212 HP:0032873 biolink:PhenotypicFeature Focal aware sensory seizure with cephalic sensation A seizure characterized by a sensation in the head such as light-headedness or headache. hp.json http://purl.obolibrary.org/obo/HP_0032873 HP:0032870 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with dyslexia/alexia A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032870 HP:0030217 biolink:PhenotypicFeature Limb apraxia Difficulty in performing the correct execution of limbs movements in absence of motor impairment. UMLS:C4022574 hp.json http://purl.obolibrary.org/obo/HP_0030217 HP:0032879 biolink:PhenotypicFeature Focal impaired awareness seizure with dissociation at onset A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032879 HP:0030218 biolink:PhenotypicFeature Punding Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. UMLS:C1963933 hp.json http://purl.obolibrary.org/obo/HP_0030218 HP:0030219 biolink:PhenotypicFeature Semantic dementia A progressive loss of the ability to remember the meaning of words, faces and objects. SNOMEDCT_US:230288001|MSH:D057180|UMLS:C0338462 hp.json Trouble remembering words http://purl.obolibrary.org/obo/HP_0030219 HP:0005246 biolink:PhenotypicFeature Giant hypertrophic gastritis A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds. UMLS:C0017155|MSH:D005758|SNOMEDCT_US:413219009|SNOMEDCT_US:60002000 hp.json Menetrier disease http://purl.obolibrary.org/obo/HP_0005246 HP:0032876 biolink:PhenotypicFeature Focal aware cognitive seizure with conduction dysphasia/aphasia A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032876 HP:0030213 biolink:PhenotypicFeature Emotional blunting Lack of emotional reactivity and empathy for situations or persons, sometime also for family members. UMLS:C0233469|SNOMEDCT_US:6140007 hp.json http://purl.obolibrary.org/obo/HP_0030213 HP:0030214 biolink:PhenotypicFeature Hypersexuality Pathological persistent sexual disinhibiting behavior, directed at oneself or to others. UMLS:C0312420|UMLS:C0679145|SNOMEDCT_US:73744004 hp.json Sex addiction http://purl.obolibrary.org/obo/HP_0030214 HP:0005247 biolink:PhenotypicFeature Hypoplasia of the abdominal wall musculature Underdevelopment of the abdominal musculature. UMLS:C3279407 hp.json Abdominal muscular hypoplasia http://purl.obolibrary.org/obo/HP_0005247 HP:0032875 biolink:PhenotypicFeature obsolete Focal impaired awareness cognitive seizure with impaired responsiveness hp.json http://purl.obolibrary.org/obo/HP_0032875 HP:0005248 biolink:PhenotypicFeature Intrahepatic biliary atresia Atresia in the intrahepatic bile duct. UMLS:C1855284 hp.json Intrahepatic atresia of biliary duct|Bile duct paucity http://purl.obolibrary.org/obo/HP_0005248 HP:0030215 biolink:PhenotypicFeature Inappropriate crying Uncontrolled episodes of crying, without apparent motivating stimuli. UMLS:C0860609 hp.json Inappropriate crying http://purl.obolibrary.org/obo/HP_0030215 HP:0032878 biolink:PhenotypicFeature Focal impaired awareness sensory seizure with cephalic sensation A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032878 HP:0030216 biolink:PhenotypicFeature Inertia Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). UMLS:C4022575 hp.json http://purl.obolibrary.org/obo/HP_0030216 HP:0032877 biolink:PhenotypicFeature Focal aware sensory seizure with hot-cold sensations A seizure characterized by sensations of feeling hot and then cold. hp.json http://purl.obolibrary.org/obo/HP_0032877 HP:0005249 biolink:PhenotypicFeature Functional intestinal obstruction UMLS:C3639956 hp.json http://purl.obolibrary.org/obo/HP_0005249 HP:0005242 biolink:PhenotypicFeature Extrahepatic biliary duct atresia Atresia in the extrahepatic bile duct. UMLS:C0005411|MSH:D001656|SNOMEDCT_US:82821008|SNOMEDCT_US:77480004 hp.json Biliary atresia, extrahepatic http://purl.obolibrary.org/obo/HP_0005242 HP:0005243 biolink:PhenotypicFeature Partial abdominal muscle agenesis Failure to form of portions of the abdominal musculature. UMLS:C4025228 hp.json http://purl.obolibrary.org/obo/HP_0005243 HP:0005244 biolink:PhenotypicFeature Gastrointestinal infarctions UMLS:C3152231 hp.json GI infarctions|Death of digestive organ tissue due to poor blood supply http://purl.obolibrary.org/obo/HP_0005244 HP:0005245 biolink:PhenotypicFeature Intestinal hypoplasia Developmental hypoplasia of the intestine. UMLS:C4021640 hp.json Hypoplastic intestines|Underdeveloped instestine http://purl.obolibrary.org/obo/HP_0005245 HP:0005240 biolink:PhenotypicFeature Esophageal obstruction SNOMEDCT_US:405247003|UMLS:C0239296 hp.json http://purl.obolibrary.org/obo/HP_0005240 HP:0005241 biolink:PhenotypicFeature Total intestinal aganglionosis A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel. SNOMEDCT_US:204745000|MSH:C538058|UMLS:C0345240 hp.json http://purl.obolibrary.org/obo/HP_0005241 HP:0032883 biolink:PhenotypicFeature Focal aware cognitive seizure with deja vu/jamais vu A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032883 HP:0030220 biolink:PhenotypicFeature Socially inappropriate behavior Behavior that is not in line with social norms. UMLS:C2220010 hp.json Socially inappropriate behaviour|Socially inappropriate behavior http://purl.obolibrary.org/obo/HP_0030220 HP:0030221 biolink:PhenotypicFeature Sweet craving Excessive desire to eat sweet foods. UMLS:C0241314 hp.json Sweet craving http://purl.obolibrary.org/obo/HP_0030221 HP:0032882 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with deja vu/jamais vu A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032882 HP:0030222 biolink:PhenotypicFeature Visual agnosia Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. MSH:D000377|SNOMEDCT_US:25762009|UMLS:C0234502 hp.json http://purl.obolibrary.org/obo/HP_0030222 HP:0032885 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with hallucination A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032885 HP:0030223 biolink:PhenotypicFeature Perseveration Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact. SNOMEDCT_US:44515000|UMLS:C0233651 hp.json Perseverative behavior|Perseverative behaviour http://purl.obolibrary.org/obo/HP_0030223 HP:0032884 biolink:PhenotypicFeature Focal aware sensory seizure with somatosensory features A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032884 HP:0032881 biolink:PhenotypicFeature obsolete Focal aware cognitive seizure with impaired responsiveness hp.json http://purl.obolibrary.org/obo/HP_0032881 HP:0032880 biolink:PhenotypicFeature Focal impaired awareness sensory seizure with auditory features A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032880 HP:0030228 biolink:PhenotypicFeature Abnormal muscle fiber valosin-containing protein A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family. UMLS:C4022570 hp.json Abnormal muscle fibre valosin-containing protein http://purl.obolibrary.org/obo/HP_0030228 HP:0030229 biolink:PhenotypicFeature Accumulation of muscle fiber valosin-containing protein Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy. UMLS:C4022569 hp.json Accumulation of muscle fibre valosin-containing protein http://purl.obolibrary.org/obo/HP_0030229 HP:0030224 biolink:PhenotypicFeature Abnormal muscle fiber desmin A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein. UMLS:C4022573 hp.json Abnormal muscle fibre desmin http://purl.obolibrary.org/obo/HP_0030224 HP:0005257 biolink:PhenotypicFeature Thoracic hypoplasia UMLS:C1837482 hp.json Small chest|Small thorax http://purl.obolibrary.org/obo/HP_0005257 HP:0032887 biolink:PhenotypicFeature Generalized atonic seizure Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature. hp.json Generalised atonic seizure http://purl.obolibrary.org/obo/HP_0032887 HP:0005258 biolink:PhenotypicFeature Pectoral muscle hypoplasia/aplasia UMLS:C4025226 hp.json Small/absent pec muscle|Underdeveloped/absent pec muscle http://purl.obolibrary.org/obo/HP_0005258 HP:0030225 biolink:PhenotypicFeature Accumulation of muscle fiber desmin Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy. UMLS:C4021043 hp.json Muscle fiber desmin-reactive inclusion bodies|Accumulation of muscle fibre desmin|Muscle fibre desmin-reactive inclusion bodies http://purl.obolibrary.org/obo/HP_0030225 HP:0032886 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032886 HP:0032889 biolink:PhenotypicFeature Focal aware sensory seizure with gustatory features A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. hp.json http://purl.obolibrary.org/obo/HP_0032889 HP:0030226 biolink:PhenotypicFeature Abnormal muscle fiber myotilin A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein. UMLS:C4022572 hp.json Abnormal muscle fibre myotilin http://purl.obolibrary.org/obo/HP_0030226 HP:0005259 biolink:PhenotypicFeature Abnormal facility in opposing the shoulders UMLS:C1861517 hp.json http://purl.obolibrary.org/obo/HP_0005259 HP:0030227 biolink:PhenotypicFeature Accumulation of muscle fiber myotilin Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. UMLS:C4022571 hp.json Accumulation of muscle fibre myotilin http://purl.obolibrary.org/obo/HP_0030227 HP:0032888 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with forced thinking A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032888 HP:0005253 biolink:PhenotypicFeature Increased anterioposterior diameter of thorax UMLS:C1848760 hp.json Increased anterioposterior diameter of chest http://purl.obolibrary.org/obo/HP_0005253 HP:0005254 biolink:PhenotypicFeature Unilateral chest hypoplasia UMLS:C1845576 hp.json Small chest on one side|Underdeveloped chest on one side http://purl.obolibrary.org/obo/HP_0005254 HP:0005255 biolink:PhenotypicFeature Absence of pectoralis minor muscle Aplasia (congenital absence) of the pectoralis minor. UMLS:C1868158 hp.json Pectoralis minor aplasia http://purl.obolibrary.org/obo/HP_0005255 HP:0005256 biolink:PhenotypicFeature Unilateral absence of pectoralis major muscle Aplasia (congenital absence) of the pectoralis minor on only one side of the chest. UMLS:C4021639 hp.json Unilateral aplasia of pectoralis major muscle http://purl.obolibrary.org/obo/HP_0005256 HP:0005250 biolink:PhenotypicFeature High intestinal obstruction UMLS:C4025227 hp.json http://purl.obolibrary.org/obo/HP_0005250 HP:0030231 biolink:PhenotypicFeature Glycogen accumulation in muscle fiber lysosomes An increased amount of glycogen in muscle tissue found specifically in lysosomes. UMLS:C4022567 hp.json Glycogen accumulation in muscle fibre lysosomes http://purl.obolibrary.org/obo/HP_0030231 HP:0032894 biolink:PhenotypicFeature Seizure precipitated by febrile infection Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. hp.json Fever induced seizure http://purl.obolibrary.org/obo/HP_0032894 HP:0030232 biolink:PhenotypicFeature Increased sarcoplasmic glycogen Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers. UMLS:C4022566 hp.json http://purl.obolibrary.org/obo/HP_0030232 HP:0032893 biolink:PhenotypicFeature Gastroenteritis-related afebrile seizure Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause. hp.json http://purl.obolibrary.org/obo/HP_0032893 HP:0030233 biolink:PhenotypicFeature Bethlem sign Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. UMLS:C4021042 hp.json Bethlem phenomenon http://purl.obolibrary.org/obo/HP_0030233 HP:0032896 biolink:PhenotypicFeature Music-induced seizure Seizure precipitated by listening to music or other complex sounds. hp.json http://purl.obolibrary.org/obo/HP_0032896 HP:0030234 biolink:PhenotypicFeature Highly elevated creatine kinase An increased CPK level between 4X and 50X above the upper normal level. UMLS:C4022565 hp.json Highly elevated CPK|Highly elevated serum CK|Highly elevated serum phosph-CK|Highly elevated serum CPK|Highly elevated creatine phosphokinase http://purl.obolibrary.org/obo/HP_0030234 HP:0032895 biolink:PhenotypicFeature Febrile seizure outside the age of 3 months to 6 years Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure. hp.json http://purl.obolibrary.org/obo/HP_0032895 HP:0032890 biolink:PhenotypicFeature Focal impaired awareness sensory seizure with somatosensory features A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032890 HP:0032892 biolink:PhenotypicFeature Infection-related seizure Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. hp.json http://purl.obolibrary.org/obo/HP_0032892 HP:0032891 biolink:PhenotypicFeature Focal aware motor seizure with version A focal motor seizure with version characterized by retained awareness throughout the seizure. hp.json Focal motor aware seizure with version http://purl.obolibrary.org/obo/HP_0032891 HP:0030230 biolink:PhenotypicFeature Central core regions in muscle fibers The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. UMLS:C4022568 hp.json Central core regions in muscle fibres http://purl.obolibrary.org/obo/HP_0030230 HP:0030239 biolink:PhenotypicFeature Hypoplasia of the upper arm musculature Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis. UMLS:C4022562 hp.json Underdeveloped upper arm muscles http://purl.obolibrary.org/obo/HP_0030239 HP:0005229 biolink:PhenotypicFeature Jejunoileal ulceration UMLS:C4025232 hp.json http://purl.obolibrary.org/obo/HP_0005229 HP:0005224 biolink:PhenotypicFeature Rectal abscess A collection of pus in the area of the rectum. SNOMEDCT_US:197166005|SNOMEDCT_US:91669008|UMLS:C0267566|UMLS:C0149770 hp.json Perirectal abscess http://purl.obolibrary.org/obo/HP_0005224 HP:0030235 biolink:PhenotypicFeature Extremely elevated creatine kinase An increased creatine kinase level more than 50X above the upper normal level. UMLS:C4022564 hp.json Extremely high CPK level|Extremely elevated creatine phosphokinase|Extremely elevated phospho-CK serum level|Extremely elevated serum CK level|Extremely elevated CPK http://purl.obolibrary.org/obo/HP_0030235 HP:0032898 biolink:PhenotypicFeature Focal automatism seizure A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. hp.json http://purl.obolibrary.org/obo/HP_0032898 HP:0007886 biolink:PhenotypicFeature Absent extraocular muscles Congenital absence of the extraocular muscles. UMLS:C1408781|UMLS:C4024777 hp.json Absent ocular muscles|Missing eye muscles http://purl.obolibrary.org/obo/HP_0007886 HP:0030236 biolink:PhenotypicFeature Abnormality of muscle size Abnormalities of the overall muscle bulk based on clinical observation. UMLS:C4022563 hp.json Abnormality of muscle size http://purl.obolibrary.org/obo/HP_0030236 HP:0032897 biolink:PhenotypicFeature Focal impaired awareness sensory seizure with gustatory features A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032897 HP:0005225 biolink:PhenotypicFeature Intestinal edema Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. UMLS:C1142262 hp.json Intestinal oedema http://purl.obolibrary.org/obo/HP_0005225 HP:0030237 biolink:PhenotypicFeature Hand muscle weakness Reduced strength of the musculature of the hand. SNOMEDCT_US:298283006|UMLS:C0239831 hp.json Hand muscle weakness http://purl.obolibrary.org/obo/HP_0030237 HP:0007889 biolink:PhenotypicFeature Iridescent posterior subcapsular cataract A type of posterior subcapsular cataract characterized by an iridescent color. UMLS:C1864573 hp.json Cataracts, posterior, subcapsular, iridescent http://purl.obolibrary.org/obo/HP_0007889 HP:0032899 biolink:PhenotypicFeature Focal orofacial automatism seizure A type of focal automatism seizure characterized by orofacial automatisms at onset. hp.json http://purl.obolibrary.org/obo/HP_0032899 HP:0005227 biolink:PhenotypicFeature Adenomatous colonic polyposis Presence of multiple adenomatous polyps in the colon. UMLS:C1868071|MEDDRA:10056981 hp.json Multiple adenomatous colon polyps|Multiple colonic adenomatous polyps http://purl.obolibrary.org/obo/HP_0005227 HP:0005220 biolink:PhenotypicFeature Multiple intestinal neurofibromatosis UMLS:C4025233 hp.json http://purl.obolibrary.org/obo/HP_0005220 HP:0005222 biolink:PhenotypicFeature Bowel diverticulosis The presence of multiple diverticula of the intestine. UMLS:C1395674|UMLS:C1394691 hp.json Bowel diverticula http://purl.obolibrary.org/obo/HP_0005222 HP:0007885 biolink:PhenotypicFeature Slowed horizontal saccades An abnormally slow velocity of horizontal saccadic eye movements. UMLS:C1856477 hp.json http://purl.obolibrary.org/obo/HP_0007885 HP:0005223 biolink:PhenotypicFeature Duplicated colon UMLS:C1850328 hp.json http://purl.obolibrary.org/obo/HP_0005223 HP:0007881 biolink:PhenotypicFeature Central corneal dystrophy UMLS:C4024778 hp.json http://purl.obolibrary.org/obo/HP_0007881 HP:0007880 biolink:PhenotypicFeature Marginal corneal dystrophy UMLS:C4024779 hp.json http://purl.obolibrary.org/obo/HP_0007880 CHEBI:71300 biolink:ChemicalSubstance EC 2.* (transferase) inhibitor An enzyme inhibitor that inhibits the action of a transferase (EC 2.*) Wikipedia:Transferase hp.json EC 2.* inhibitors|EC 2 inhibitor|EC 2 inhibitors|EC 2.* inhibitor|EC 2.* (transferase) inhibitors|transferase inhibitor|transferase inhibitors http://purl.obolibrary.org/obo/CHEBI_71300 3_STAR GO:0021593 biolink:BiologicalProcess rhombomere morphogenesis The process in which the anatomical structure of the rhombomere is generated and organized. Rhombomeres are transverse segments of the developing rhombencephalon. Rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates. hp.json http://purl.obolibrary.org/obo/GO_0021593 GO:0021594 biolink:BiologicalProcess rhombomere formation The process that gives rise to the rhombomere. This process pertains to the initial formation of a structure from unspecified parts. Rhombomeres are transverse segments of the developing rhombencephalon. Rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates. hp.json http://purl.obolibrary.org/obo/GO_0021594 HP:0030242 biolink:PhenotypicFeature Portal vein thrombosis Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. SNOMEDCT_US:17920008|UMLS:C0155773 hp.json Blood clot in portal vein http://purl.obolibrary.org/obo/HP_0030242 HP:0030243 biolink:PhenotypicFeature Hepatic vein thrombosis An obstruction in the veins of the liver caused by a blood clot (thrombosis). UMLS:C0019154|SNOMEDCT_US:38739001|MSH:D006502 hp.json Hepatic venous thrombosis|Blood clot in liver vein http://purl.obolibrary.org/obo/HP_0030243 HP:0030244 biolink:PhenotypicFeature Maternal fever in pregnancy The occurence of an elevated body temperature of the mother during pregnancy. UMLS:C4021041 hp.json Maternal fever during pregnancy http://purl.obolibrary.org/obo/HP_0030244 HP:0030245 biolink:PhenotypicFeature Intrapartum fever The occurence of maternal fever during labor. UMLS:C3829514 hp.json Maternal fever during labour|Maternal fever during labor http://purl.obolibrary.org/obo/HP_0030245 HP:0030241 biolink:PhenotypicFeature Hypoplasia of deltoid muscle Underdevelopment of the deltoid muscle. UMLS:C1868170 hp.json Deltoid muscle hypoplasia http://purl.obolibrary.org/obo/HP_0030241 HP:0005235 biolink:PhenotypicFeature Jejunal atresia A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. SNOMEDCT_US:204702007|UMLS:C0266175|SNOMEDCT_US:360491009|MSH:D007409 hp.json http://purl.obolibrary.org/obo/HP_0005235 HP:0007898 biolink:PhenotypicFeature Exudative retinopathy MSH:D058456|SNOMEDCT_US:360455002|SNOMEDCT_US:25506007|UMLS:C0154832 hp.json http://purl.obolibrary.org/obo/HP_0007898 HP:0030246 biolink:PhenotypicFeature Maternal first trimester fever The occurence of fever in a mother during the first trimester of pregnancy. UMLS:C4022561 hp.json http://purl.obolibrary.org/obo/HP_0030246 HP:0005236 biolink:PhenotypicFeature Chronic calcifying pancreatitis A form of chronic pancreatitis that is characterized by calcification. UMLS:C4025231 hp.json http://purl.obolibrary.org/obo/HP_0005236 HP:0030247 biolink:PhenotypicFeature Splanchnic vein thrombosis The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity). UMLS:C4022560 hp.json Blood clot in splanchnic vein http://purl.obolibrary.org/obo/HP_0030247 HP:0030248 biolink:PhenotypicFeature Mesenteric venous thrombosis A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). SNOMEDCT_US:95446005|UMLS:C0267412|MSH:D065666 hp.json Blood clot in mesentertic vein http://purl.obolibrary.org/obo/HP_0030248 HP:0005237 biolink:PhenotypicFeature Degenerative liver disease The presence of degenerative changes of the liver. UMLS:C4025230 hp.json http://purl.obolibrary.org/obo/HP_0005237 HP:0007899 biolink:PhenotypicFeature Retinal nonattachment Failure of attachment of the retina during development. UMLS:C4021563 hp.json Congenital retinal non-attachment http://purl.obolibrary.org/obo/HP_0007899 HP:0005238 biolink:PhenotypicFeature Discrete intestinal polyps UMLS:C4025229 hp.json http://purl.obolibrary.org/obo/HP_0005238 HP:0030249 biolink:PhenotypicFeature Enanthema A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx. SNOMEDCT_US:5862001|UMLS:C0014034 hp.json http://purl.obolibrary.org/obo/HP_0030249 HP:0005231 biolink:PhenotypicFeature Chronic gastritis A chronic form of gastritis. SNOMEDCT_US:8493009|UMLS:C0085695 hp.json http://purl.obolibrary.org/obo/HP_0005231 HP:0007894 biolink:PhenotypicFeature Hypopigmentation of the fundus Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). UMLS:C0151891|SNOMEDCT_US:95694000 hp.json Decreased fundus pigmentation|Fundus hypopigmentation http://purl.obolibrary.org/obo/HP_0007894 HP:0005232 biolink:PhenotypicFeature Pancreatic dysplasia The presence of developmental dysplasia of the pancreas. UMLS:C4019084 hp.json http://purl.obolibrary.org/obo/HP_0005232 HP:0007893 biolink:PhenotypicFeature obsolete Progressive retinal degeneration hp.json http://purl.obolibrary.org/obo/HP_0007893 HP:0005233 biolink:PhenotypicFeature Hypoplasia of the gallbladder The presence of a hypoplastic gallbladder. SNOMEDCT_US:93259002|UMLS:C0345282 hp.json Hypoplastic gallbladder http://purl.obolibrary.org/obo/HP_0005233 HP:0005234 biolink:PhenotypicFeature Neonatal intestinal obstruction UMLS:C0859974 hp.json http://purl.obolibrary.org/obo/HP_0005234 HP:0007892 biolink:PhenotypicFeature Hypoplasia of the lacrimal punctum Underdevelopment of the lacrimal puncta. UMLS:C4021564 hp.json Hypoplasia of the lacrimal puncta|Hypoplastic lacrimal puncta http://purl.obolibrary.org/obo/HP_0007892 HP:0005230 biolink:PhenotypicFeature Biliary tract obstruction Obstruction affecting the biliary tree. UMLS:C0400979|SNOMEDCT_US:235918000 hp.json http://purl.obolibrary.org/obo/HP_0005230 OBO:MAXO_0000383 biolink:NamedThing biopsy of vulva Removal of tissue from the mammalian vulva. hp.json vulva biopsy|mammalian vulva biopsy|vulval biopsy http://purl.obolibrary.org/obo/MAXO_0000383 HP:0005290 biolink:PhenotypicFeature Internal carotid artery hypoplasia UMLS:C4280493|UMLS:C4280492|UMLS:C4280491|UMLS:C1855736 hp.json Hypotrophic internal carotid artery|Decreased size of internal carotid artery|Deficiency of internal carotid artery|Small internal carotid artery|Aplasia of internal carotid artery http://purl.obolibrary.org/obo/HP_0005290 OBO:MAXO_0000384 biolink:NamedThing biopsy of medulla oblongata Removal of tissue from the medulla oblongata. hp.json medulla oblongata biopsy http://purl.obolibrary.org/obo/MAXO_0000384 GO:0021582 biolink:BiologicalProcess medulla oblongata maturation A developmental process, independent of morphogenetic (shape) change, that is required for the medulla oblongata to attain its fully functional state. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate. hp.json myelencephalon maturation|medulla maturation http://purl.obolibrary.org/obo/GO_0021582 GO:0021583 biolink:BiologicalProcess pons morphogenesis The process in which the anatomical structure of the pons is generated and organized. The pons lies above the medulla and next to the cerebellum. The pons conveys information about movement from the cerebral hemisphere to the cerebellum. hp.json http://purl.obolibrary.org/obo/GO_0021583 OBO:MAXO_0000381 biolink:NamedThing biopsy of lymph node Removal of tissue from the lymph node. hp.json lymph node biopsy http://purl.obolibrary.org/obo/MAXO_0000381 HP:0005291 biolink:PhenotypicFeature Inflammatory arteriopathy UMLS:C4025222 hp.json http://purl.obolibrary.org/obo/HP_0005291 OBO:MAXO_0000382 biolink:NamedThing biopsy of lymphatic part of lymphoid system Removal of tissue from the lymphatic part of lymphoid system. hp.json lymphatic part of lymphoid system biopsy http://purl.obolibrary.org/obo/MAXO_0000382 GO:0021584 biolink:BiologicalProcess pons formation The process that gives rise to the pons. This process pertains to the initial formation of a structure from unspecified parts. The pons lies above the medulla and next to the cerebellum. The pons conveys information about movement from the cerebral hemisphere to the cerebellum. hp.json http://purl.obolibrary.org/obo/GO_0021584 HP:0005292 biolink:PhenotypicFeature Intimal thickening in the coronary arteries UMLS:C1968633 hp.json http://purl.obolibrary.org/obo/HP_0005292 OBO:MAXO_0000387 biolink:NamedThing biopsy of muscle tissue Removal of tissue from the muscle tissue. hp.json muscle tissue biopsy http://purl.obolibrary.org/obo/MAXO_0000387 OBO:MAXO_0000388 biolink:NamedThing biopsy of nasolacrimal duct Removal of tissue from the nasolacrimal duct. hp.json nasolacrimal duct biopsy http://purl.obolibrary.org/obo/MAXO_0000388 GO:0021586 biolink:BiologicalProcess pons maturation A developmental process, independent of morphogenetic (shape) change, that is required for the pons to attain its fully functional state. The pons lies above the medulla and next to the cerebellum. The pons conveys information about movement from the cerebral hemisphere to the cerebellum. hp.json http://purl.obolibrary.org/obo/GO_0021586 OBO:MAXO_0000385 biolink:NamedThing biopsy of mouth Removal of tissue from the mouth. hp.json mouth biopsy|muscle biopsy http://purl.obolibrary.org/obo/MAXO_0000385 OBO:MAXO_0000386 biolink:NamedThing biopsy of muscle Removal of tissue from the muscle organ. hp.json muscle organ biopsy http://purl.obolibrary.org/obo/MAXO_0000386 HP:0032830 biolink:PhenotypicFeature Neonatal seizure with bilateral asymmetric automatism Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically. hp.json http://purl.obolibrary.org/obo/HP_0032830 OBO:MAXO_0000380 biolink:NamedThing biopsy of lung Removal of tissue from the lung. hp.json lung biopsy http://purl.obolibrary.org/obo/MAXO_0000380 GO:0021580 biolink:BiologicalProcess medulla oblongata formation The process that gives rise to the medulla oblongata. This process pertains to the initial formation of a structure from unspecified parts. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate. hp.json myelencephalon biosynthesis|medulla formation|medulla biosynthesis|myelencephalon formation http://purl.obolibrary.org/obo/GO_0021580 HP:0032836 biolink:PhenotypicFeature Neonatal bilateral symmetric myoclonic seizure Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically. hp.json http://purl.obolibrary.org/obo/HP_0032836 HP:0032835 biolink:PhenotypicFeature Neonatal seizure with bilateral symmetric automatism Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically. hp.json http://purl.obolibrary.org/obo/HP_0032835 HP:0032838 biolink:PhenotypicFeature Neonatal unilateral epileptic spasm Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body. hp.json http://purl.obolibrary.org/obo/HP_0032838 HP:0032837 biolink:PhenotypicFeature Bilateral asymmetric neonatal sequential seizure Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. hp.json http://purl.obolibrary.org/obo/HP_0032837 HP:0032832 biolink:PhenotypicFeature Neonatal bilateral asymmetric myoclonic seizure Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically. hp.json http://purl.obolibrary.org/obo/HP_0032832 HP:0032831 biolink:PhenotypicFeature Neonatal bilateral asymmetric tonic seizure Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically. hp.json http://purl.obolibrary.org/obo/HP_0032831 HP:0032834 biolink:PhenotypicFeature Neonatal seizure with unilateral automatism Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body. hp.json http://purl.obolibrary.org/obo/HP_0032834 HP:0032833 biolink:PhenotypicFeature Neonatal epileptic spasm A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters. hp.json http://purl.obolibrary.org/obo/HP_0032833 OBO:MAXO_0000389 biolink:NamedThing biopsy of nasopharynx Removal of tissue from the nasopharynx. hp.json nasopharynx biopsy http://purl.obolibrary.org/obo/MAXO_0000389 HP:0005288 biolink:PhenotypicFeature Abnormality of the nares Abnormality of the nostril. UMLS:C4021637 hp.json Abnormality of the nostrils|Malformation of the nostrils|Deformity of the nostrils|Deformity of the nares|Anomaly of the nares|Malformation of the nares http://purl.obolibrary.org/obo/HP_0005288 hposlim_core HP:0005289 biolink:PhenotypicFeature Abnormality of the nasolabial region UMLS:C4025223 hp.json Anomaly of the nasolabial region|Deformity of the nasolabial region|Malformation of the nasolabial region http://purl.obolibrary.org/obo/HP_0005289 HP:0032839 biolink:PhenotypicFeature Bilateral symmetric neonatal sequential seizure Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs. hp.json http://purl.obolibrary.org/obo/HP_0032839 HP:0005285 biolink:PhenotypicFeature Absent nasal bridge UMLS:C1837888 hp.json Missing bridge of nose|Absent bridge of nose|Agenesis of bridge of nose|Missing nasal bridge|Absent nasal bridge|Agenesis of nasal bridge http://purl.obolibrary.org/obo/HP_0005285 OBO:MAXO_0000372 biolink:NamedThing biopsy of large intestine Removal of tissue from the large intestine. hp.json large intestine biopsy http://purl.obolibrary.org/obo/MAXO_0000372 OBO:MAXO_0000373 biolink:NamedThing biopsy of larynx Removal of tissue from the larynx. hp.json larynx biopsy http://purl.obolibrary.org/obo/MAXO_0000373 OBO:MAXO_0000370 biolink:NamedThing biopsy of jaw skeleton Removal of tissue from the jaw skeleton. hp.json jaw skeleton biopsy http://purl.obolibrary.org/obo/MAXO_0000370 OBO:MAXO_0000371 biolink:NamedThing biopsy of lacrimal apparatus Removal of tissue from the lacrimal apparatus. hp.json lacrimal apparatus biopsy http://purl.obolibrary.org/obo/MAXO_0000371 OBO:MAXO_0000376 biolink:NamedThing biopsy of liver Removal of tissue from the liver. hp.json liver biopsy http://purl.obolibrary.org/obo/MAXO_0000376 OBO:MAXO_0000377 biolink:NamedThing biopsy of lower respiratory tract Removal of tissue from the lower respiratory tract. hp.json lower respiratory tract biopsy http://purl.obolibrary.org/obo/MAXO_0000377 GO:0021575 biolink:BiologicalProcess hindbrain morphogenesis The process in which the anatomical structure of the hindbrain is generated and organized. The hindbrain is the region consisting of the medulla, pons and cerebellum. Areas of the hindbrain control motor and autonomic functions. hp.json rhombencephalon morphogenesis http://purl.obolibrary.org/obo/GO_0021575 GO:0033559 biolink:BiologicalProcess unsaturated fatty acid metabolic process The chemical reactions and pathways involving an unsaturated fatty acid, any fatty acid containing one or more double bonds between carbon atoms. MetaCyc:PWY-762|MetaCyc:PWY-782 hp.json unsaturated fatty acid metabolism http://purl.obolibrary.org/obo/GO_0033559 GO:0021576 biolink:BiologicalProcess hindbrain formation The process that gives rise to the hindbrain. This process pertains to the initial formation of a structure from unspecified parts. The hindbrain is the region consisting of the medulla, pons and cerebellum. Areas of the hindbrain control motor and autonomic functions. hp.json http://purl.obolibrary.org/obo/GO_0021576 OBO:MAXO_0000374 biolink:NamedThing biopsy of limb Removal of tissue from the limb. hp.json limb biopsy http://purl.obolibrary.org/obo/MAXO_0000374 OBO:MAXO_0000375 biolink:NamedThing biopsy of lip Removal of tissue from the lip. hp.json lip biopsy http://purl.obolibrary.org/obo/MAXO_0000375 HP:0032841 biolink:PhenotypicFeature Neonatal bilateral asymmetric epileptic spasm Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body. hp.json http://purl.obolibrary.org/obo/HP_0032841 HP:0032840 biolink:PhenotypicFeature Neonatal bilateral symmetric epileptic spasm Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body. hp.json http://purl.obolibrary.org/obo/HP_0032840 HP:0032847 biolink:PhenotypicFeature Focal impaired awareness hemifacial clonic seizure Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032847 HP:0032846 biolink:PhenotypicFeature Focal motor seizure with negative myoclonus A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure. hp.json http://purl.obolibrary.org/obo/HP_0032846 HP:0032849 biolink:PhenotypicFeature Aphasic status epilepticus Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit. hp.json http://purl.obolibrary.org/obo/HP_0032849 HP:0032848 biolink:PhenotypicFeature Focal aware cognitive seizure with neglect A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032848 HP:0032843 biolink:PhenotypicFeature Focal-onset epileptic spasm A type of epileptic spasm of focal onset. hp.json Focal onset epileptic spasm http://purl.obolibrary.org/obo/HP_0032843 HP:0032842 biolink:PhenotypicFeature Generalized-onset epileptic spasm A type of epileptic spasm of generalized onset. hp.json Generalised-onset epileptic spasm|Generalised onset epileptic spasm|Generalized onset epileptic spasm http://purl.obolibrary.org/obo/HP_0032842 HP:0032845 biolink:PhenotypicFeature Focal aware epileptic spasm A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032845 HP:0032844 biolink:PhenotypicFeature Focal impaired awareness epileptic spasm A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032844 GO:0021578 biolink:BiologicalProcess hindbrain maturation A developmental process, independent of morphogenetic (shape) change, that is required for the hindbrain to attain its fully functional state. The hindbrain is the region consisting of the medulla, pons and cerebellum. Areas of the hindbrain control motor and autonomic functions. hp.json http://purl.obolibrary.org/obo/GO_0021578 HP:0005297 biolink:PhenotypicFeature Premature occlusive vascular stenosis Peripheral arterial stenosis with onset before the age of 50 years. UMLS:C1867457 hp.json http://purl.obolibrary.org/obo/HP_0005297 GO:0021579 biolink:BiologicalProcess medulla oblongata morphogenesis The process in which the anatomical structure of the medulla oblongata is generated and organized. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate. hp.json myelencephalon morphogenesis|medulla morphogenesis http://purl.obolibrary.org/obo/GO_0021579 HP:0005298 biolink:PhenotypicFeature obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia hp.json http://purl.obolibrary.org/obo/HP_0005298 GO:0033554 biolink:BiologicalProcess cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). hp.json http://purl.obolibrary.org/obo/GO_0033554 gocheck_do_not_manually_annotate OBO:MAXO_0000378 biolink:NamedThing biopsy of lower urinary tract Removal of tissue from the lower urinary tract. hp.json lower urinary tract biopsy http://purl.obolibrary.org/obo/MAXO_0000378 HP:0005299 biolink:PhenotypicFeature obsolete Premature peripheral vascular disease hp.json http://purl.obolibrary.org/obo/HP_0005299 OBO:MAXO_0000379 biolink:NamedThing biopsy of lumbar region of vertebral column Removal of tissue from the lumbar region of vertebral column. hp.json lumbar region of vertebral column biopsy http://purl.obolibrary.org/obo/MAXO_0000379 HP:0005293 biolink:PhenotypicFeature Venous insufficiency MSH:D014689|UMLS:C0042485|SNOMEDCT_US:20696009 hp.json Poorly functioning veins http://purl.obolibrary.org/obo/HP_0005293 HP:0005294 biolink:PhenotypicFeature Arterial dissection A separation (dissection) of the layers of an artery. SNOMEDCT_US:26845001|MSH:D000784|SNOMEDCT_US:233992003|SNOMEDCT_US:9406001|UMLS:C0002949|SNOMEDCT_US:710864009 hp.json http://purl.obolibrary.org/obo/HP_0005294 HP:0005295 biolink:PhenotypicFeature Pseudocoarctation of the aorta Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum. SNOMEDCT_US:70602002|UMLS:C0345088 hp.json http://purl.obolibrary.org/obo/HP_0005295 HP:0005296 biolink:PhenotypicFeature obsolete Occlusive vascular disease hp.json http://purl.obolibrary.org/obo/HP_0005296 GO:0021563 biolink:BiologicalProcess glossopharyngeal nerve development Various sensory and motor branches of the glossopharyngeal nerve supply nerve connections to the pharynx and back of the tongue. The branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion. hp.json cranial nerve 9 development|CN IX development|cranial nerve IX development http://purl.obolibrary.org/obo/GO_0021563 GO:0021564 biolink:BiologicalProcess vagus nerve development The process whose specific outcome is the progression of the vagus nerve over time, from its formation to the mature structure. This nerve is primarily sensory but also has visceromotor components. It originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components. It controls some motor functions such as speech. The sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis. hp.json cranial nerve X development|cranial nerve 10 development|CN X development http://purl.obolibrary.org/obo/GO_0021564 GO:0021565 biolink:BiologicalProcess accessory nerve development The process whose specific outcome is the progression of the accessory nerve over time, from its formation to the mature structure. In mice, the spinal branch of this motor nerve innervates the trapezius and the sternocleidomastoid muscles. The cranial branch joins the vagus nerve and innervates the same targets as the vagus nerve. hp.json cranial nerve 11 development|spinal accessory nerve development|CN XI development|cranial nerve XI development http://purl.obolibrary.org/obo/GO_0021565 GO:0021566 biolink:BiologicalProcess hypoglossal nerve development The process whose specific outcome is the progression of the hypoglossal nerve over time, from its formation to the mature structure. This motor nerve innervates all the intrinsic and all but one of the extrinsic muscles of the tongue. hp.json cranial nerve 12 development|cranial nerve XII development|CN XII development http://purl.obolibrary.org/obo/GO_0021566 HP:0032850 biolink:PhenotypicFeature Focal aware cognitive seizure with expressive dysphasia/aphasia A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032850 HP:0032852 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032852 HP:0032851 biolink:PhenotypicFeature Focal aware sensory seizure with visual features A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. hp.json http://purl.obolibrary.org/obo/HP_0032851 GO:0008585 biolink:BiologicalProcess female gonad development The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure. hp.json ovary development|ovarian development http://purl.obolibrary.org/obo/GO_0008585 HP:0032858 biolink:PhenotypicFeature Focal impaired awareness motor seizure with negative myoclonus A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure. hp.json Focal motor impaired awareness seizure with negative myoclonus http://purl.obolibrary.org/obo/HP_0032858 HP:0032857 biolink:PhenotypicFeature Focal aware motor seizure with negative myoclonus A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure. hp.json Focal motor aware seizure with negative myoclonus http://purl.obolibrary.org/obo/HP_0032857 HP:0032859 biolink:PhenotypicFeature Focal impaired awareness motor seizure with paresis/paralysis A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure. hp.json Focal motor impaired awareness seizure with paresis/paralysis http://purl.obolibrary.org/obo/HP_0032859 HP:0005268 biolink:PhenotypicFeature Miscarriage A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. SNOMEDCT_US:17369002|UMLS:C0000786|MSH:D000022 hp.json Spontaneous abortion|Early fetal demise http://purl.obolibrary.org/obo/HP_0005268 HP:0032854 biolink:PhenotypicFeature Focal aware hemifacial clonic seizure Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout. hp.json http://purl.obolibrary.org/obo/HP_0032854 HP:0032853 biolink:PhenotypicFeature Focal impaired awareness sensory seizure with hot-cold sensations A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032853 HP:0032856 biolink:PhenotypicFeature Focal aware bilateral motor seizure A type of focal bilateral motor seizure during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032856 HP:0032855 biolink:PhenotypicFeature Photosensitive myoclonic-tonic-clonic seizure Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light. hp.json Photically induced myoclonic-tonic-clonic seizure http://purl.obolibrary.org/obo/HP_0032855 HP:0005264 biolink:PhenotypicFeature Abnormality of the gallbladder An abnormality of the gallbladder. SNOMEDCT_US:253803008|SNOMEDCT_US:49714001|UMLS:C0266249 hp.json Abnormality of the gallbladder|Anomaly of the gallbladder http://purl.obolibrary.org/obo/HP_0005264 HP:0005265 biolink:PhenotypicFeature Abnormal jejunum morphology An abnormality of the jejunum, i.e., of the middle section of the small intestine. UMLS:C4025224 hp.json Abnormality of the jejunum http://purl.obolibrary.org/obo/HP_0005265 HP:0005266 biolink:PhenotypicFeature Intestinal polyp A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. SNOMEDCT_US:254588001|UMLS:C0021846|MSH:D007417 hp.json Intestinal polyps http://purl.obolibrary.org/obo/HP_0005266 HP:0005267 biolink:PhenotypicFeature Premature delivery because of cervical insufficiency or membrane fragility UMLS:C1851808 hp.json http://purl.obolibrary.org/obo/HP_0005267 HP:0005261 biolink:PhenotypicFeature Joint hemorrhage Hemorrhage occurring within a joint. MSH:D006395|SNOMEDCT_US:81808003|UMLS:C0018924 hp.json Bleeding within a joint|Hemarthrosis|Joint haemorrhage|Hemarthroses|Spontaneous joint hemorrhage|Spontaneous joint haemorrhage http://purl.obolibrary.org/obo/HP_0005261 HP:0005262 biolink:PhenotypicFeature Abnormality of the synovia UMLS:C4025225 hp.json http://purl.obolibrary.org/obo/HP_0005262 HP:0005263 biolink:PhenotypicFeature Gastritis The presence of inflammation of the gastric mucous membrane. MEDDRA:10017853|UMLS:C0017152|SNOMEDCT_US:4556007|MSH:D005756 hp.json Stomach inflammation http://purl.obolibrary.org/obo/HP_0005263 hposlim_core OBO:MAXO_0000394 biolink:NamedThing biopsy of perianal skin Removal of tissue from the perianal skin. hp.json perianal skin biopsy http://purl.obolibrary.org/obo/MAXO_0000394 OBO:MAXO_0000395 biolink:NamedThing biopsy of peritoneum Removal of tissue from the peritoneum. hp.json peritoneum biopsy http://purl.obolibrary.org/obo/MAXO_0000395 HP:0005280 biolink:PhenotypicFeature Depressed nasal bridge Posterior positioning of the nasal root in relation to the overall facial profile for age. UMLS:C4280495|UMLS:C3550546|UMLS:C1836542 hp.json Flat bridge of nose|Depressed nasal bridge|Concave nasal bridge|Flattened nasal bridge|Flat, nasal bridge|Retruded bridge of nose|Low nasal bridge|Flat nasal root|Depressed nasal root/bridge|Depressed bridge of nose|Flat nasal bridge|Retruded nasal bridge|Concave bridge of nose|Depressed nasal root|Low nasal root http://purl.obolibrary.org/obo/HP_0005280 hposlim_core GO:0021550 biolink:BiologicalProcess medulla oblongata development The process whose specific outcome is the progression of the medulla oblongata over time, from its formation to the mature structure. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate. hp.json myelencephalon development|medulla development http://purl.obolibrary.org/obo/GO_0021550 OBO:MAXO_0000392 biolink:NamedThing biopsy of pancreas Removal of tissue from the pancreas. hp.json pancreas biopsy http://purl.obolibrary.org/obo/MAXO_0000392 HP:0005281 biolink:PhenotypicFeature Hypoplastic nasal bridge UMLS:C4280494|UMLS:C1865597 hp.json Decreased size of bridge of nose|Hypotrophic nasal bridge|Hypoplastic bridge of nose|Small nasal bridge|Decreased size of nasal bridge|Hypotrophic bridge of nose|Small bridge of nose http://purl.obolibrary.org/obo/HP_0005281 OBO:MAXO_0000393 biolink:NamedThing biopsy of penis Removal of tissue from the penis. hp.json penis biopsy http://purl.obolibrary.org/obo/MAXO_0000393 GO:0021551 biolink:BiologicalProcess central nervous system morphogenesis The process in which the anatomical structure of the central nervous system is generated and organized. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. hp.json http://purl.obolibrary.org/obo/GO_0021551 OBO:MAXO_0000398 biolink:NamedThing biopsy of rectum Removal of tissue from the rectum. hp.json rectum biopsy http://purl.obolibrary.org/obo/MAXO_0000398 OBO:MAXO_0000399 biolink:NamedThing biopsy of retina Removal of tissue from the retina. hp.json retina biopsy http://purl.obolibrary.org/obo/MAXO_0000399 OBO:MAXO_0000396 biolink:NamedThing biopsy of pituitary gland Removal of tissue from the pituitary gland. hp.json pituitary gland biopsy http://purl.obolibrary.org/obo/MAXO_0000396 GO:0021555 biolink:BiologicalProcess midbrain-hindbrain boundary morphogenesis The process in which the anatomical structure of the midbrain-hindbrain boundary is generated and organized. The midbrain-hindbrain domain of the embryonic brain is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages. An organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate. hp.json MHB morphogenesis|isthmus morphogenesis http://purl.obolibrary.org/obo/GO_0021555 OBO:MAXO_0000397 biolink:NamedThing biopsy of pleura Removal of tissue from the pleura. hp.json pleura biopsy http://purl.obolibrary.org/obo/MAXO_0000397 HP:0032861 biolink:PhenotypicFeature Focal non-convulsive status epilepticus with impairment of consciousness Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired. hp.json Focal non-convulsive status epilepticus with impairment of awareness http://purl.obolibrary.org/obo/HP_0032861 HP:0032860 biolink:PhenotypicFeature Generalized non-convulsive status epilepticus without coma Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure. hp.json Petit mal status epilepticus|Generalised non-convulsive status epilepticus without coma|Absence status epilepticus http://purl.obolibrary.org/obo/HP_0032860 HP:0030200 biolink:PhenotypicFeature Fatiguable weakness of proximal limb muscles A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022583 hp.json http://purl.obolibrary.org/obo/HP_0030200 HP:0032863 biolink:PhenotypicFeature Typical absence status epilepticus Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure. hp.json Simple absence status epilepticus http://purl.obolibrary.org/obo/HP_0032863 HP:0030201 biolink:PhenotypicFeature Response to drugs acting on neuromuscular transmission Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis. UMLS:C4022582 hp.json http://purl.obolibrary.org/obo/HP_0030201 HP:0032862 biolink:PhenotypicFeature Status epilepticus with ictal paresis A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures. hp.json Focal inhibitory status epilepticus http://purl.obolibrary.org/obo/HP_0032862 OBO:MAXO_0000390 biolink:NamedThing biopsy of neck Removal of tissue from the neck. hp.json neck biopsy http://purl.obolibrary.org/obo/MAXO_0000390 OBO:MAXO_0000391 biolink:NamedThing biopsy of ovary Removal of tissue from the ovary. hp.json ovary biopsy http://purl.obolibrary.org/obo/MAXO_0000391 GO:0008594 biolink:BiologicalProcess photoreceptor cell morphogenesis The process in which the structures of a photoreceptor cell are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a photoreceptor cell, a sensory cell that reacts to the presence of light. An example of this is found in Drosophila melanogaster. hp.json photoreceptor development http://purl.obolibrary.org/obo/GO_0008594 HP:0030206 biolink:PhenotypicFeature EMG: incremental response of compound muscle action potential to repetitive nerve stimulation A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation. UMLS:C4022579 hp.json http://purl.obolibrary.org/obo/HP_0030206 HP:0032869 biolink:PhenotypicFeature Focal non-convulsive status epilepticus without impairment of consciousness Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact. hp.json Focal non-convulsive status epilepticus without impairment of awareness|Aura continua|Focal non-convulsive status epilepticus with retained awareness http://purl.obolibrary.org/obo/HP_0032869 HP:0030207 biolink:PhenotypicFeature Paradoxical respiration Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing. SNOMEDCT_US:12025005|SNOMEDCT_US:78011002|MSH:D005409|UMLS:C0016196|UMLS:C0231852 hp.json Flail chest|Paradoxical breathing http://purl.obolibrary.org/obo/HP_0030207 HP:0032868 biolink:PhenotypicFeature Super-refractory status epilepticus Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent. hp.json http://purl.obolibrary.org/obo/HP_0032868 HP:0030208 biolink:PhenotypicFeature Anti-acetylcholine receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. UMLS:C4022578 hp.json Acetylcholine receptor antibody positivity|Anti-AChR antibody positivity http://purl.obolibrary.org/obo/HP_0030208 HP:0030209 biolink:PhenotypicFeature Calcium channel antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. UMLS:C4022577 hp.json Ca channel antibody positivity|Ca2+ channel antibody positivity http://purl.obolibrary.org/obo/HP_0030209 HP:0030202 biolink:PhenotypicFeature Favorable response of weakness to acetylcholine esterase inhibitors Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. UMLS:C4022581 hp.json Favourable response of weakness to acetylcholine esterase inhibitors http://purl.obolibrary.org/obo/HP_0030202 HP:0032865 biolink:PhenotypicFeature Myoclonic absence status epilepticus Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG. hp.json http://purl.obolibrary.org/obo/HP_0032865 HP:0030203 biolink:PhenotypicFeature Unfavorable response of muscle weakness to acetylcholine esterase inhibitors Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. UMLS:C4022580 hp.json Unfavourable response of muscle weakness to acetylcholine esterase inhibitors http://purl.obolibrary.org/obo/HP_0030203 HP:0032864 biolink:PhenotypicFeature Focal aware sensory seizure with auditory features A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032864 MPATH:496 biolink:NamedThing Non-Lymphoid leukaemias Neoplasms of non-lymphoid haematopoietic lineage. Must have at least 20% blast cells to meet this definition. URL:http://www.bloodjournal.org/cgi/content/full/100/1/238/DC1/2 hp.json http://purl.obolibrary.org/obo/MPATH_496 HP:0032867 biolink:PhenotypicFeature Refractory status epilepticus Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine. hp.json http://purl.obolibrary.org/obo/HP_0032867 HP:0030205 biolink:PhenotypicFeature Increased jitter at single fiber EMG The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). UMLS:C4021045 hp.json Increased jitter at single fibre electromyography|Increased jitter at single fibre EMG http://purl.obolibrary.org/obo/HP_0030205 HP:0032866 biolink:PhenotypicFeature Oculoclonic status epilepticus A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges. hp.json http://purl.obolibrary.org/obo/HP_0032866 GO:0021556 biolink:BiologicalProcess central nervous system formation The process that gives rise to the central nervous system. This process pertains to the initial formation of a structure from unspecified parts. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. hp.json http://purl.obolibrary.org/obo/GO_0021556 HP:0005275 biolink:PhenotypicFeature Cartilaginous ossification of nose UMLS:C1855616 hp.json Cartilaginous nasal ossification http://purl.obolibrary.org/obo/HP_0005275 HP:0005278 biolink:PhenotypicFeature Hypoplastic nasal tip UMLS:C1844731|UMLS:C4280497|UMLS:C4280496 hp.json Deficient nasal tip|Decreased size of nasal tip|Aplasia of nasal tip|Small tip of nose|Small nasal tip|Underdevelopment of tip of nose|Hypoplasia of tip of nose|Underdevelopment of nasal tip|Hypotrophic tip of nose|Hypotrophic nasal tip|Decreased size of tip of nose http://purl.obolibrary.org/obo/HP_0005278 GO:0021559 biolink:BiologicalProcess trigeminal nerve development The process whose specific outcome is the progression of the trigeminal nerve over time, from its formation to the mature structure. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae. hp.json CN V development|cranial nerve V development|cranial nerve 5 development http://purl.obolibrary.org/obo/GO_0021559 HP:0005272 biolink:PhenotypicFeature Prominent nasolabial fold Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). UMLS:C1866487 hp.json Prominent smile lines|Prominent nasolabial groove|Deep laugh lines|Deep nasolabial fold|Prominent laugh lines|Deep nasolabial crease|Deep smile lines|Nasolabial crease, prominent|Deep nasolabial groove http://purl.obolibrary.org/obo/HP_0005272 hposlim_core HP:0005273 biolink:PhenotypicFeature Absent nasal septal cartilage Lack of the cartilage of the nasal septum. UMLS:C4021638|UMLS:C4280501 hp.json Ageneis of nasal septal cartilage|Absent nasal septum|Failure of development of nasal septal cartilage|Absent nasal septal cartilage http://purl.obolibrary.org/obo/HP_0005273 hposlim_core CHEBI:58389 biolink:ChemicalSubstance trimethylammonium An ammonium ion that is the conjugate acid of trimethylamine, obtained via protonation of the nitrogen; major species at pH 7.3. Reaxys:16709444|MetaCyc:TRIMETHYLAMINE hp.json trimethylamine|N,N-dimethylmethanaminium|trimethylammonium cation|trimethylazanium|trimethylazanium cation http://purl.obolibrary.org/obo/CHEBI_58389 3_STAR HP:0005274 biolink:PhenotypicFeature Prominent nasal tip UMLS:C4280499|UMLS:C4280498|UMLS:C1856118|UMLS:C4280500 hp.json Bulbous tip of nose|Hypertrophy of tip of nose|Hypertrophy of nasal tip|Prominent tip of nose|Prominent nasal tip|Hyperplasia of tip of nose|Hyperplasia of nasal tip|Pronounced tip of nose|Large tip of nose|Large nasal tip|Pronounced nasal tip http://purl.obolibrary.org/obo/HP_0005274 CHEBI:36902 biolink:ChemicalSubstance chalcogen hydride hp.json chalcogen hydrides|chalcogen hydride http://purl.obolibrary.org/obo/CHEBI_36902 3_STAR HP:0007829 biolink:PhenotypicFeature obsolete Diffuse retinal cone degeneration hp.json http://purl.obolibrary.org/obo/HP_0007829 HP:0007825 biolink:PhenotypicFeature obsolete Cataracts develop in second or third decade hp.json http://purl.obolibrary.org/obo/HP_0007825 HP:0007824 biolink:PhenotypicFeature Total ophthalmoplegia Paralysis of both the extrinsic and intrinsic ocular muscles. UMLS:C0155338|SNOMEDCT_US:78097002 hp.json Total internal and external ophthalmoplegia|Complete ophthalmoplegia|Global paralysis of gaze http://purl.obolibrary.org/obo/HP_0007824 HP:0007827 biolink:PhenotypicFeature Nodular corneal dystrophy UMLS:C4024792 hp.json http://purl.obolibrary.org/obo/HP_0007827 HP:0007820 biolink:PhenotypicFeature Lacrimal punctal atresia Congenital absence or closure of the opening of the lacrimal punctum. UMLS:C1863201 hp.json Atretic lacrimal puncta|Atretic lacrimal punctum http://purl.obolibrary.org/obo/HP_0007820 HP:0007822 biolink:PhenotypicFeature Central retinal exudate UMLS:C4024793 hp.json http://purl.obolibrary.org/obo/HP_0007822 UBERON:0039377 biolink:AnatomicalEntity urethral vein A vein that drains the urethra. FMA:21270 hp.json http://purl.obolibrary.org/obo/UBERON_0039377 CHEBI:36915 biolink:ChemicalSubstance inorganic cation hp.json inorganic cations http://purl.obolibrary.org/obo/CHEBI_36915 3_STAR CHEBI:36916 biolink:ChemicalSubstance cation A monoatomic or polyatomic species having one or more elementary charges of the proton. KEGG:C01373 hp.json cation|cation|Kationen|cations|cationes|Cation|Kation http://purl.obolibrary.org/obo/CHEBI_36916 3_STAR CHEBI:36914 biolink:ChemicalSubstance inorganic ion hp.json inorganic ions http://purl.obolibrary.org/obo/CHEBI_36914 3_STAR HP:0032803 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with dysgraphia/agraphia A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032803 HP:0007836 biolink:PhenotypicFeature Mosaic corneal dystrophy UMLS:C4024786 hp.json http://purl.obolibrary.org/obo/HP_0007836 HP:0032802 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with dyscalculia/acalculia A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032802 HP:0007835 biolink:PhenotypicFeature S-shaped palpebral fissures UMLS:C4024787 hp.json S-shaped opening between the eyelids|S-shaped eyes http://purl.obolibrary.org/obo/HP_0007835 HP:0032805 biolink:PhenotypicFeature Focal impaired awareness sensory seizure with vestibular features A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032805 HP:0007838 biolink:PhenotypicFeature Progressive ptosis A progressive form of ptosis. UMLS:C1834015 hp.json Progressive drooping of upper eyelid http://purl.obolibrary.org/obo/HP_0007838 HP:0032804 biolink:PhenotypicFeature Focal impaired awareness sensory seizure with olfactory features A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032804 HP:0007832 biolink:PhenotypicFeature Pigmentation of the sclera UMLS:C1859882 hp.json Pigmentation of the outer white part of the eyeball http://purl.obolibrary.org/obo/HP_0007832 MPATH:474 biolink:NamedThing ectasia Dilation of a tubular structure. hp.json http://purl.obolibrary.org/obo/MPATH_474 HP:0007831 biolink:PhenotypicFeature Nonprogressive restrictive external ophthalmoplegia Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. UMLS:C4024789 hp.json http://purl.obolibrary.org/obo/HP_0007831 HP:0007834 biolink:PhenotypicFeature Progressive cataract A kind of cataract that progresses with age. UMLS:C4021566 hp.json Cataract, progressive http://purl.obolibrary.org/obo/HP_0007834 HP:0032801 biolink:PhenotypicFeature Focal impaired awareness cognitive seizure with memory impairment A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032801 HP:0032800 biolink:PhenotypicFeature Focal aware sensory seizure with vestibular features A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation. hp.json http://purl.obolibrary.org/obo/HP_0032800 HP:0007833 biolink:PhenotypicFeature Anterior chamber synechiae UMLS:C4024788 hp.json http://purl.obolibrary.org/obo/HP_0007833 MPATH:476 biolink:NamedThing telangiectasia A lesion formed by a dilated capillary or terminal artery. hp.json http://purl.obolibrary.org/obo/MPATH_476 HP:0007830 biolink:PhenotypicFeature Adult-onset night blindness Inability to see well at night or in poor light with onset in adulthood. UMLS:C4024790 hp.json Adult-onset night blindness http://purl.obolibrary.org/obo/HP_0007830 HP:0032807 biolink:PhenotypicFeature Neonatal seizure A seizure occurring within the neonatal period (28 days beyond the full term date). hp.json http://purl.obolibrary.org/obo/HP_0032807 HP:0032806 biolink:PhenotypicFeature Focal impaired awareness sensory seizure with visual features A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032806 HP:0032809 biolink:PhenotypicFeature Neonatal electro-clinical seizure Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032809 HP:0032808 biolink:PhenotypicFeature Neonatal seizure with electrographic correlate Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032808 OBO:MAXO_0000483 biolink:NamedThing medical professional evaluation A procedure where a healthcare provider, who was not previously involved in a patient's treatment, reviews a patient's medical history, examines the patient, and makes recommendations as to care and treatment. hp.json medical professional examination|medical professional consultation http://purl.obolibrary.org/obo/MAXO_0000483 OBO:MAXO_0000487 biolink:NamedThing clinical assessment A measurement performed in a clinical setting using clinician's observations and instrument data to inform patient care and research. CMO:0000000|PMID:2647562 hp.json clinical measurement http://purl.obolibrary.org/obo/MAXO_0000487 HP:0007807 biolink:PhenotypicFeature Optic nerve compression UMLS:C0271344|SNOMEDCT_US:72983001 hp.json http://purl.obolibrary.org/obo/HP_0007807 HP:0007809 biolink:PhenotypicFeature Punctate corneal dystrophy UMLS:C4024796 hp.json http://purl.obolibrary.org/obo/HP_0007809 HP:0007808 biolink:PhenotypicFeature obsolete Bilateral retinal coloboma hp.json http://purl.obolibrary.org/obo/HP_0007808 UBERON:0003395 biolink:AnatomicalEntity mesentery of rectum A mesentery that is part of a rectum [Automatically generated definition]. EMAPA:18664 hp.json rectum mesentery http://purl.obolibrary.org/obo/UBERON_0003395 HP:0007803 biolink:PhenotypicFeature Monochromacy Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. UMLS:C0152200|UMLS:C1857618|MSH:C536128|SNOMEDCT_US:56852002|MSH:D003117 hp.json Complete achromatopsia|Total colorblindness http://purl.obolibrary.org/obo/HP_0007803 HP:0032814 biolink:PhenotypicFeature Neonatal electro-clinical clonic seizure Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric. hp.json Neonatal electroclinical clonic seizure http://purl.obolibrary.org/obo/HP_0032814 UBERON:0003396 biolink:AnatomicalEntity mesentery of colon A mesentery that is part of a colon [Automatically generated definition]. FMA:14645|EMAPA:18942 hp.json mesentery of large intestine|colon mesentery|mesocolon|large bowel mesentery|mesentery of large bowel|large intestinal mesentery http://purl.obolibrary.org/obo/UBERON_0003396 HP:0032813 biolink:PhenotypicFeature Neonatal electro-clinical motor seizure Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features. hp.json http://purl.obolibrary.org/obo/HP_0032813 HP:0007802 biolink:PhenotypicFeature Granular corneal dystrophy The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material. UMLS:C0018179|MSH:D003317|SNOMEDCT_US:45283008 hp.json http://purl.obolibrary.org/obo/HP_0007802 HP:0032816 biolink:PhenotypicFeature Neonatal multifocal myoclonic seizure Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites. hp.json http://purl.obolibrary.org/obo/HP_0032816 UBERON:0003393 biolink:AnatomicalEntity mesentery of urinary system A mesentery that is part of a urinary system [Automatically generated definition]. MA:0003233|EMAPA:17367 hp.json excretory system mesentery|renal system mesentery|urinary system mesentery|systema urinaria mesentery|mesentery of excretory system|mesentery of renal system|mesentery of systema urinaria http://purl.obolibrary.org/obo/UBERON_0003393 UBERON:0003394 biolink:AnatomicalEntity mesentery of hindgut A mesentery that is part of a hindgut [Automatically generated definition]. EMAPA:16718 hp.json hindgut mesentery http://purl.obolibrary.org/obo/UBERON_0003394 HP:0032815 biolink:PhenotypicFeature Neonatal electro-clinical myoclonic seizure Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). hp.json Neonatal electroclinical myoclonic seizure http://purl.obolibrary.org/obo/HP_0032815 HP:0032810 biolink:PhenotypicFeature Focal sensory seizure with cephalic sensation A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation. hp.json Partial seizure with cephalic sensation|Cephalic aura|Focal seizure with cephalic sensation http://purl.obolibrary.org/obo/HP_0032810 HP:0032812 biolink:PhenotypicFeature Neonatal electro-clinical non-motor seizure hp.json http://purl.obolibrary.org/obo/HP_0032812 HP:0007801 biolink:PhenotypicFeature obsolete Fishnet retinal pigmentation hp.json http://purl.obolibrary.org/obo/HP_0007801 HP:0007800 biolink:PhenotypicFeature Increased axial length of the globe Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. UMLS:C1835117 hp.json Increased axial globe length|Globe elongated|Increased front to back length of eyeball http://purl.obolibrary.org/obo/HP_0007800 UBERON:0003390 biolink:AnatomicalEntity mesothelium of pleural cavity A mesothelium that is part of a pleural cavity [Automatically generated definition]. EHDAA2:0001476|BTO:0003155|EMAPA:16775|FMA:18148 hp.json mesothelium of pleura|pleura|pleural cavity mesothelium|pleural cavity meso-epithelium|pleural mesothelium|meso-epithelium of pleural cavity http://purl.obolibrary.org/obo/UBERON_0003390 HP:0032811 biolink:PhenotypicFeature Neonatal electrographic only seizure Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation. hp.json http://purl.obolibrary.org/obo/HP_0032811 OBO:MAXO_0000488 biolink:NamedThing body temperature measurement An assessment of body temperature. CMO:0000015|NCBIBook:NBK331 hp.json http://purl.obolibrary.org/obo/MAXO_0000488 OBO:MAXO_0000489 biolink:NamedThing vital signs measurement The act of assessing an individual's current temperature, heart rate, respiratory rate, pulse oxygenation, and blood pressure. NCIT:C49672 hp.json vital signs assessment|VSTEST http://purl.obolibrary.org/obo/MAXO_0000489 HP:0032818 biolink:PhenotypicFeature Neonatal focal clonic seizure Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups. hp.json http://purl.obolibrary.org/obo/HP_0032818 HP:0032817 biolink:PhenotypicFeature Neonatal focal myoclonic seizure Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally. hp.json http://purl.obolibrary.org/obo/HP_0032817 UBERON:0003397 biolink:AnatomicalEntity mesentery of duodenum A mesentery that is part of a duodenum [Automatically generated definition]. EMAPA:19081 hp.json duodenum mesentery http://purl.obolibrary.org/obo/UBERON_0003397 UBERON:0003398 biolink:AnatomicalEntity mesentery of jejunum A mesentery that is part of a jejunum [Automatically generated definition]. FMA:14651|EMAPA:18670 hp.json mesojejunum|jejunal mesentery|jejunum mesentery http://purl.obolibrary.org/obo/UBERON_0003398 HP:0032819 biolink:PhenotypicFeature Neonatal bilateral clonic seizure Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral. hp.json http://purl.obolibrary.org/obo/HP_0032819 HP:0007818 biolink:PhenotypicFeature Central heterochromia The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone. UMLS:C4021567 hp.json Ring iris heterochromia http://purl.obolibrary.org/obo/HP_0007818 HP:0007817 biolink:PhenotypicFeature Horizontal supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. UMLS:C4024794 hp.json http://purl.obolibrary.org/obo/HP_0007817 HP:0007819 biolink:PhenotypicFeature Presenile cataracts Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. UMLS:C0154971|SNOMEDCT_US:441622000 hp.json Presenile cataract http://purl.obolibrary.org/obo/HP_0007819 UBERON:0003384 biolink:AnatomicalEntity skeletal muscle tissue of pharynx A portion of skeletal muscle tissue that is part of a pharynx [Automatically generated definition]. EMAPA:18963 hp.json skeletal muscle tissue of pharynx|pharynx skeletal muscle tissue|pharynx skeletal muscle http://purl.obolibrary.org/obo/UBERON_0003384 HP:0007814 biolink:PhenotypicFeature Retinal pigment epithelial mottling Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium. UMLS:C1857644 hp.json RPE mottling|Focal hypopigmentation of the retinal pigment epithelium|Salt and pepper retinal pigmentation|Retinal pigment epithelium irregularity|Salt and pepper retinopathy|RPE irregularity http://purl.obolibrary.org/obo/HP_0007814 HP:0032825 biolink:PhenotypicFeature Neonatal electro-clinical sequential seizure Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. hp.json Neonatal electroclinical sequential seizure http://purl.obolibrary.org/obo/HP_0032825 HP:0032824 biolink:PhenotypicFeature Neonatal focal tonic seizure Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes. hp.json http://purl.obolibrary.org/obo/HP_0032824 HP:0007813 biolink:PhenotypicFeature Nongranulomatous uveitis A form of uveitis that is not associated with the formation of granulomas. UMLS:C4024795 hp.json http://purl.obolibrary.org/obo/HP_0007813 HP:0032827 biolink:PhenotypicFeature Multifocal neonatal sequential seizure Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs. hp.json http://purl.obolibrary.org/obo/HP_0032827 UBERON:0003382 biolink:AnatomicalEntity cardiac muscle of left ventricle A portion of cardiac muscle tissue that is part of a left ventricle [Automatically generated definition]. FMA:83453|EMAPA:17339|VHOG:0001234 hp.json left ventricular cardiac muscle tissue|cardiac muscle tissue of left ventricle|left ventricle cardiac muscle http://purl.obolibrary.org/obo/UBERON_0003382 HP:0032826 biolink:PhenotypicFeature Focal neonatal sequential seizure Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures. hp.json http://purl.obolibrary.org/obo/HP_0032826 HP:0007815 biolink:PhenotypicFeature Abnormal distribution of retinal arterioles and venules UMLS:C3277463 hp.json http://purl.obolibrary.org/obo/HP_0007815 UBERON:0003383 biolink:AnatomicalEntity cardiac muscle tissue of interventricular septum A portion of cardiac muscle tissue that is part of an interventricular septum [Automatically generated definition]. VHOG:0000999|EHDAA2:0004158|FMA:84084|EMAPA:17335 hp.json cardiac muscle of interventricular septum|interventricular septum myocardium|interventricular septum heart muscle|interventricular septum muscle|interventricular septum muscle|cardiac muscle tissue of interventricular septum|interventricular septum cardiac muscle http://purl.obolibrary.org/obo/UBERON_0003383 UBERON:0003380 biolink:AnatomicalEntity cardiac muscle of left atrium A portion of cardiac muscle tissue that is part of a left atrium [Automatically generated definition]. EMAPA:17320|FMA:7285|VHOG:0001225|EHDAA2:0004154|SCTID:189936008 hp.json left atrium heart muscle|textus muscularis of myocardium of left atrium|textus muscularis of myocardium of cardiac left atrium|cardiac muscle of cardiac left atrium|cardiac left atrium cardiac muscle tissue|myocardium of left atrium|cardiac muscle of heart left atrium|textus muscularis of myocardium of heart left atrium|textus muscularis of myocardium of left atrium of heart|textus muscularis of myocardium of left cardiac atrium|cardiac muscle of left atrium of heart|cardiac left atrium cardiac muscle|left atrium myocardium http://purl.obolibrary.org/obo/UBERON_0003380 HP:0032821 biolink:PhenotypicFeature Neonatal electro-clinical tonic seizure Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes. hp.json http://purl.obolibrary.org/obo/HP_0032821 HP:0007810 biolink:PhenotypicFeature obsolete Progressive bifocal chorioretinal atrophy hp.json http://purl.obolibrary.org/obo/HP_0007810 HP:0032820 biolink:PhenotypicFeature Neonatal multifocal clonic seizure Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites. hp.json http://purl.obolibrary.org/obo/HP_0032820 UBERON:0003381 biolink:AnatomicalEntity cardiac muscle of right ventricle A portion of cardiac muscle tissue that is part of a right ventricle [Automatically generated definition]. EMAPA:17342|FMA:83452|VHOG:0001236 hp.json right ventricle cardiac muscle|cardiac muscle tissue of right ventricle|right ventricular cardiac muscle tissue http://purl.obolibrary.org/obo/UBERON_0003381 HP:0007812 biolink:PhenotypicFeature Herpetiform corneal ulceration The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. UMLS:C4020911 hp.json Dendritic corneal epithelial ulcer|Herpetiform corneal ulcers http://purl.obolibrary.org/obo/HP_0007812 HP:0032823 biolink:PhenotypicFeature Neonatal electro-clinical seizure with behavior arrest Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations. hp.json Neonatal electroclinical seizure with behavioural arrest|Neonatal electro-clinical seizure with behaviour arrest http://purl.obolibrary.org/obo/HP_0032823 HP:0007811 biolink:PhenotypicFeature Horizontal pendular nystagmus Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. UMLS:C1866180 hp.json http://purl.obolibrary.org/obo/HP_0007811 HP:0032822 biolink:PhenotypicFeature Neonatal electro-clinical autonomic seizure Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea. hp.json http://purl.obolibrary.org/obo/HP_0032822 CHEBI:24913 biolink:ChemicalSubstance isoprenoid Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives. PMID:19219049|LIPID_MAPS_class:LMPR01|PMID:12769708 hp.json isoprenoids|isoprenoid|isoprenoids http://purl.obolibrary.org/obo/CHEBI_24913 3_STAR OBO:MAXO_0000478 biolink:NamedThing orthopedic surgeon evaluation Assessment by a surgeon who focuses on the preservation, investigation and restoration of the form and function of the extremities, spine and associated structures by medical, surgical and physical means. This specialist is involved with the care of patients whose musculoskeletal problems include congenital deformities, trauma, infections, tumors, metabolic disturbances of the musculoskeletal system, deformities, injuries and degenerative diseases of the spine, hands, feet, knee, hip, shoulder and elbow in children and adults. An orthopaedic surgeon is also concerned with primary and secondary muscular problems and the effects of central or peripheral nervous system lesions of the musculoskeletal system. hp.json referral to orthopedist|consultation with orthopedic surgeon|referral to orthopedic surgeon|orthopedic surgeon referral|orthopaedic consult|orthopedic consult|orthopedic surgeon consultation|orthopedist consultation http://purl.obolibrary.org/obo/MAXO_0000478 UBERON:0003388 biolink:AnatomicalEntity mesothelium of pericardial cavity A mesothelium that is part of a pericardium [Automatically generated definition]. RETIRED_EHDAA2:0001436 hp.json pericardial cavity mesothelium|cavity of pericardial sac mesothelium|pericardial cavity meso-epithelium|cavity of pericardial sac meso-epithelium|meso-epithelium of pericardial cavity|meso-epithelium of cavity of pericardial sac|mesothelium of cavity of pericardial sac http://purl.obolibrary.org/obo/UBERON_0003388 HP:0032829 biolink:PhenotypicFeature Neonatal electro-clinical motor seizure with automatism Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features. hp.json Neonatal electroclinical motor seizure with automatism http://purl.obolibrary.org/obo/HP_0032829 HP:0032828 biolink:PhenotypicFeature Neonatal bilateral symmetric tonic seizure Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically. hp.json http://purl.obolibrary.org/obo/HP_0032828 UBERON:0003389 biolink:AnatomicalEntity mesothelium of diaphragm A mesothelium that is part of a diaphragm [Automatically generated definition]. EMAPA:18429 hp.json meso-epithelium of diaphragm|thoracic diaphragm mesothelium|thoracic diaphragm meso-epithelium|diaphragm mesothelium|diaphragm meso-epithelium|mesothelium of thoracic diaphragm|meso-epithelium of thoracic diaphragm http://purl.obolibrary.org/obo/UBERON_0003389 UBERON:0003386 biolink:AnatomicalEntity smooth muscle of eye Any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi. MA:0001268|EMAPA:18807 hp.json ocular smooth muscle http://purl.obolibrary.org/obo/UBERON_0003386 pheno_slim UBERON:0003387 biolink:AnatomicalEntity smooth muscle of trachea A portion of smooth muscle tissue that is part of a trachea [Automatically generated definition]. MA:0001863|BTO:0001391|NCIT:C49306|UMLS:C1710458|EMAPA:19192|FMA:262010 hp.json tracheal smooth muscle|trachea smooth muscle http://purl.obolibrary.org/obo/UBERON_0003387 pheno_slim|human_reference_atlas OBO:MAXO_0000420 biolink:NamedThing biopsy of uterine cervix Removal of tissue from the uterine cervix. hp.json uterine cervix biopsy http://purl.obolibrary.org/obo/MAXO_0000420 OBO:MAXO_0000421 biolink:NamedThing biopsy of vagina Removal of tissue from the vagina. hp.json vagina biopsy http://purl.obolibrary.org/obo/MAXO_0000421 HP:0005206 biolink:PhenotypicFeature Pancreatic pseudocyst Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis. UMLS:C0030299|SNOMEDCT_US:111374002|MSH:D010192 hp.json http://purl.obolibrary.org/obo/HP_0005206 HP:0007869 biolink:PhenotypicFeature obsolete Peripheral retinopathy hp.json http://purl.obolibrary.org/obo/HP_0007869 HP:0005207 biolink:PhenotypicFeature Gastric hypertrophy Hypertrophy of the stomach. UMLS:C1834341|UMLS:C4280502 hp.json Increased stomach size http://purl.obolibrary.org/obo/HP_0005207 HP:0007868 biolink:PhenotypicFeature obsolete Age-related macular degeneration hp.json http://purl.obolibrary.org/obo/HP_0007868 HP:0005208 biolink:PhenotypicFeature Secretory diarrhea Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. UMLS:C0267557|SNOMEDCT_US:15699003 hp.json Secretory diarrhoea http://purl.obolibrary.org/obo/HP_0005208 HP:0005209 biolink:PhenotypicFeature Intrahepatic bile duct cysts The presence of cyst of the intrahepatic bile duct. UMLS:C0400991|SNOMEDCT_US:235925007 hp.json http://purl.obolibrary.org/obo/HP_0005209 HP:0005202 biolink:PhenotypicFeature Helicobacter pylori infection A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach. UMLS:C0850666 hp.json http://purl.obolibrary.org/obo/HP_0005202 HP:0005203 biolink:PhenotypicFeature Spontaneous esophageal perforation The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. MSH:C536571|SNOMEDCT_US:19995004|UMLS:C0238115 hp.json Spontaneous esophageal rupture|Boerhaave syndrome http://purl.obolibrary.org/obo/HP_0005203 HP:0007867 biolink:PhenotypicFeature Restrictive partial external ophthalmoplegia Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. UMLS:C4024781 hp.json http://purl.obolibrary.org/obo/HP_0007867 HP:0007866 biolink:PhenotypicFeature Retinal infarction UMLS:C0281967 hp.json http://purl.obolibrary.org/obo/HP_0007866 OBO:MAXO_0000424 biolink:NamedThing medical magnetic resonance imaging procedure Imaging that uses radiofrequency waves and a strong magnetic field rather than x-rays to provide amazingly clear and detailed pictures of internal organs and tissues. The technique is valuable for the diagnosis of many pathologic conditions, including cancer, heart and vascular disease, stroke, and joint and musculoskeletal disorders. NCIT:C16809 hp.json MRI scan for therapeutics|nuclear magnetic resonance imaging for medical therapy|NMRI|therapeutic MRI http://purl.obolibrary.org/obo/MAXO_0000424 OBO:MAXO_0000425 biolink:NamedThing MRI of the head A medical examination performed using of magnetic resonance imaging to image the head. hp.json head magnetic resonance imaging|head MRI|Nuclear magnetic resonance imaging of the head http://purl.obolibrary.org/obo/MAXO_0000425 OBO:MAXO_0000422 biolink:NamedThing biopsy of vermiform appendix Removal of tissue from the vermiform appendix. hp.json vermiform appendix biopsy http://purl.obolibrary.org/obo/MAXO_0000422 HP:0005200 biolink:PhenotypicFeature Retroperitoneal fibrosis SNOMEDCT_US:49120005|UMLS:C0035357|MSH:D012185 hp.json http://purl.obolibrary.org/obo/HP_0005200 HP:0005201 biolink:PhenotypicFeature Anomalous splenoportal venous system UMLS:C4025236 hp.json http://purl.obolibrary.org/obo/HP_0005201 OBO:MAXO_0000423 biolink:NamedThing biopsy of skin Removal of tissue from the zone of skin. hp.json skin biopsy|zone of skin biopsy http://purl.obolibrary.org/obo/MAXO_0000423 HP:0007862 biolink:PhenotypicFeature Retinal calcification Deposition of calcium salts in the retina. UMLS:C1867289 hp.json http://purl.obolibrary.org/obo/HP_0007862 OBO:MAXO_0000428 biolink:NamedThing MRI of the chest A medical examination performed using of magnetic resonance imaging to image the chest. hp.json chest magnetic resonance imaging|Nuclear magnetic resonance imaging of the chest|chest MRI http://purl.obolibrary.org/obo/MAXO_0000428 OBO:MAXO_0000426 biolink:NamedThing MRI of the abdomen A medical examination performed using of magnetic resonance imaging to image the abdomen. hp.json abdomen magnetic resonance imaging|abdomen MRI|Nuclear magnetic resonance imaging of the abdomen http://purl.obolibrary.org/obo/MAXO_0000426 OBO:MAXO_0000427 biolink:NamedThing MRI of the brain A medical examination performed using of magnetic resonance imaging to image the brain. hp.json brain MRI|Nuclear magnetic resonance imaging of the brain|brain magnetic resonance imaging http://purl.obolibrary.org/obo/MAXO_0000427 OBO:MAXO_0000410 biolink:NamedThing biopsy of thymus Removal of tissue from the thymus. hp.json thymus biopsy http://purl.obolibrary.org/obo/MAXO_0000410 HP:0005217 biolink:PhenotypicFeature Duplication of internal organs UMLS:C4025234 hp.json http://purl.obolibrary.org/obo/HP_0005217 HP:0005218 biolink:PhenotypicFeature Anoperineal fistula The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. UMLS:C1835798 hp.json Perianal fistula http://purl.obolibrary.org/obo/HP_0005218 HP:0007879 biolink:PhenotypicFeature Allergic conjunctivitis Allergic Conjunctivitis is an allergic inflammation of the conjunctiva. SNOMEDCT_US:473460002|MSH:D003233|SNOMEDCT_US:231854006|UMLS:C0009766 hp.json http://purl.obolibrary.org/obo/HP_0007879 OBO:MAXO_0000419 biolink:NamedThing biopsy of urinary bladder Removal of tissue from the urinary bladder. hp.json urinary bladder biopsy http://purl.obolibrary.org/obo/MAXO_0000419 HP:0005219 biolink:PhenotypicFeature Absence of intrinsic factor Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. UMLS:C4021641 hp.json Intrinsic factor absent from gastric juice http://purl.obolibrary.org/obo/HP_0005219 HP:0005213 biolink:PhenotypicFeature Pancreatic calcification The presence of abnormal calcium deposition lesions in the pancreas. UMLS:C1842406 hp.json Pancreatic calcifications http://purl.obolibrary.org/obo/HP_0005213 HP:0007876 biolink:PhenotypicFeature obsolete Juvenile cortical cataract hp.json http://purl.obolibrary.org/obo/HP_0007876 UBERON:1000004 biolink:AnatomicalEntity collection of hair on external ear A collection of hairs that grows on the external ear. hp.json external ear hair http://purl.obolibrary.org/obo/UBERON_1000004 phenotype_rcn HP:0005214 biolink:PhenotypicFeature Intestinal obstruction Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. UMLS:C0021843|SNOMEDCT_US:81060008|MSH:D007415 hp.json Intestinal obstruction|Bowel obstruction|Intestinal blockage http://purl.obolibrary.org/obo/HP_0005214 HP:0007875 biolink:PhenotypicFeature Congenital blindness Blindness with onset at birth. UMLS:C0005754|SNOMEDCT_US:95486002 hp.json Blindness present at birth|Congenital amaurosis http://purl.obolibrary.org/obo/HP_0007875 HP:0005215 biolink:PhenotypicFeature Frequent Giardia lamblia infestation Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection. UMLS:C4025235 hp.json http://purl.obolibrary.org/obo/HP_0005215 HP:0005216 biolink:PhenotypicFeature Impaired mastication An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. UMLS:C0239043|SNOMEDCT_US:162020001 hp.json Chewing difficulties|Difficulty chewing|Chewing difficulty http://purl.obolibrary.org/obo/HP_0005216 OBO:MAXO_0000413 biolink:NamedThing biopsy of tonsil Removal of tissue from the tonsil. hp.json tonsil biopsy http://purl.obolibrary.org/obo/MAXO_0000413 HP:0007872 biolink:PhenotypicFeature Choroidal hemangioma The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas. SNOMEDCT_US:255022003|UMLS:C0346390|NCIT:C3086 hp.json http://purl.obolibrary.org/obo/HP_0007872 HP:0005210 biolink:PhenotypicFeature Hypoplastic colon Underdevelopment of the colon. UMLS:C1392839 hp.json Hypoplasia of the colon|Underdeveloped colon http://purl.obolibrary.org/obo/HP_0005210 OBO:MAXO_0000414 biolink:NamedThing biopsy of trachea Removal of tissue from the trachea. hp.json trachea biopsy http://purl.obolibrary.org/obo/MAXO_0000414 OBO:MAXO_0000411 biolink:NamedThing biopsy of thyroid gland Removal of tissue from the thyroid gland. hp.json thyroid gland biopsy http://purl.obolibrary.org/obo/MAXO_0000411 HP:0005211 biolink:PhenotypicFeature Midgut malrotation UMLS:C1849706 hp.json http://purl.obolibrary.org/obo/HP_0005211 HP:0007874 biolink:PhenotypicFeature Almond-shaped palpebral fissure A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. UMLS:C4024780 hp.json Almond shaped eyes|Almond-shaped opening between the eyelids http://purl.obolibrary.org/obo/HP_0007874 hposlim_core OBO:MAXO_0000412 biolink:NamedThing biopsy of tongue Removal of tissue from the tongue. hp.json tongue biopsy http://purl.obolibrary.org/obo/MAXO_0000412 HP:0007873 biolink:PhenotypicFeature Abnormally prominent line of Schwalbe UMLS:C1862376 hp.json Prominent Schwalbe lines http://purl.obolibrary.org/obo/HP_0007873 HP:0005212 biolink:PhenotypicFeature Anal mucosal leukoplakia Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. UMLS:C1844632 hp.json http://purl.obolibrary.org/obo/HP_0005212 OBO:MAXO_0000417 biolink:NamedThing biopsy of ureter Removal of tissue from the ureter. hp.json ureter biopsy http://purl.obolibrary.org/obo/MAXO_0000417 OBO:MAXO_0000418 biolink:NamedThing biopsy of urethra Removal of tissue from the urethra. hp.json urethra biopsy http://purl.obolibrary.org/obo/MAXO_0000418 OBO:MAXO_0000415 biolink:NamedThing biopsy of upper digestive tract Removal of tissue from the upper digestive tract. hp.json upper digestive tract biopsy http://purl.obolibrary.org/obo/MAXO_0000415 OBO:MAXO_0000416 biolink:NamedThing biopsy of upper respiratory tract Removal of tissue from the upper respiratory tract. hp.json upper respiratory tract biopsy http://purl.obolibrary.org/obo/MAXO_0000416 HP:0007843 biolink:PhenotypicFeature Attenuation of retinal blood vessels UMLS:C3278975 hp.json Narrowing of blood vessels in back of eye http://purl.obolibrary.org/obo/HP_0007843 HP:0007841 biolink:PhenotypicFeature Amyloid deposition in the vitreous humor Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity. UMLS:C4024784 hp.json Vitreous amyloid deposits|Amyloid deposition in the vitreous humour http://purl.obolibrary.org/obo/HP_0007841 HP:0007840 biolink:PhenotypicFeature Long upper eyelashes Increased length of the upper eyelashes. UMLS:C4024785 hp.json Increased length of upper eyelashes|Long upper eyelashes|Ciliary trichomegaly of upper eyelashes http://purl.obolibrary.org/obo/HP_0007840 MPATH:429 biolink:NamedThing myxomatous tumor Neoplasms resembling primitive mesenchymal tissue with a soft mucous matrix. hp.json http://purl.obolibrary.org/obo/MPATH_429 OBO:MAXO_0000431 biolink:NamedThing MRI of the breast A medical examination performed using of magnetic resonance imaging to image the breast. hp.json breast MRI|breast magnetic resonance imaging|Nuclear magnetic resonance imaging of the breast http://purl.obolibrary.org/obo/MAXO_0000431 UBERON:0039355 biolink:AnatomicalEntity urethral artery FMA:20903 hp.json arteria urethralis http://purl.obolibrary.org/obo/UBERON_0039355 HP:0007858 biolink:PhenotypicFeature Chorioretinal lacunae Punched out lesions in the pigmented layer of the retina. UMLS:C1844751|UMLS:C4072866 hp.json Lacunar retinal depigmentation http://purl.obolibrary.org/obo/HP_0007858 hposlim_core HP:0007859 biolink:PhenotypicFeature Congenital horizontal nystagmus Horizontal nystagmus dating from or present at birth. UMLS:C1866180 hp.json Nystagmus, congenital horizontal http://purl.obolibrary.org/obo/HP_0007859 HP:0007854 biolink:PhenotypicFeature Glaucomatous visual field defect UMLS:C1299694|SNOMEDCT_US:370961005 hp.json http://purl.obolibrary.org/obo/HP_0007854 HP:0007856 biolink:PhenotypicFeature Punctate opacification of the cornea Punctate opacification (reduced transparency) of the corneal stroma. UMLS:C4021565 hp.json Punctate corneal opacities http://purl.obolibrary.org/obo/HP_0007856 HP:0007850 biolink:PhenotypicFeature Retinal vascular proliferation MSH:D015861|UMLS:C0035320|SNOMEDCT_US:61267008 hp.json http://purl.obolibrary.org/obo/HP_0007850 HP:0007852 biolink:PhenotypicFeature obsolete Pericentral pigmentary retinopathy hp.json http://purl.obolibrary.org/obo/HP_0007852 HP:0007851 biolink:PhenotypicFeature obsolete Temporal displacement of maculae hp.json http://purl.obolibrary.org/obo/HP_0007851 UBERON:0003328 biolink:AnatomicalEntity mesenchyme of footplate Mesenchyme that is part of a footplate. EHDAA:5149|VHOG_RETIRED:0001055|EMAPA:17252|EHDAA2:0000549|EHDAA:6172|EMAPA:17488 hp.json foot plate mesenchyme http://purl.obolibrary.org/obo/UBERON_0003328 UBERON:0003329 biolink:AnatomicalEntity submucosa of anal canal A submucosa that is part of an anal canal [Automatically generated definition]. FMA:85399|EMAPA:27217|EMAPA:27227|EMAPA:27535|SCTID:7892006 hp.json submucosa of anal canal viewed anatomically|submucosa of anatomical anal canal|anal canal submucosa|anatomical anal canal submucosa|submucosa of anal region|anal canal viewed anatomically submucosa|anal region submucosa http://purl.obolibrary.org/obo/UBERON_0003329 human_reference_atlas UBERON:0005992 biolink:AnatomicalEntity pulmonary valve cusp The three fibrous triangular components and associated flap of the pulmonary valve. FMA:7248 hp.json pulmonary semilunar valvule|semilunar cusp of pulmonary valve|cusp of pulmonary valve|semilunar valvule of pulmonary valve|pulmonary valvular cusp http://purl.obolibrary.org/obo/UBERON_0005992 pheno_slim UBERON:0003330 biolink:AnatomicalEntity submucosa of rectum The submucous layer of the wall of the rectum. EMAPA:27083|SCTID:71683001|BTO:0002114|FMA:15034 hp.json rectal submucosa|tela submucosa recti|rectum submucosa http://purl.obolibrary.org/obo/UBERON_0003330 UBERON:0005991 biolink:AnatomicalEntity aortic valve anulus The fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps. FMA:9502|EMAPA:37418 hp.json fibrous ring of aortic valve|aortic anulus|aortic valvar anulus|anulus of aortic valve http://purl.obolibrary.org/obo/UBERON_0005991 pheno_slim UBERON:0005990 biolink:AnatomicalEntity aortic valve cusp The three fibrous triangular components and associated flap of the aortic valve. FMA:7251 hp.json aortic semilunar valvule|semilunar valvule of aortic valve|cusp of aortic valve|aortic valvular cusp http://purl.obolibrary.org/obo/UBERON_0005990 pheno_slim UBERON:0003337 biolink:AnatomicalEntity serosa of jejunum A serous membrane that is part of a jejunum [Automatically generated definition]. FMA:14955|EMAPA:27115 hp.json visceral peritoneum of jejunum|jejunum serous membrane|jejunal serosa|serous membrane of jejunum|jejunum serosa http://purl.obolibrary.org/obo/UBERON_0003337 human_reference_atlas UBERON:0003338 biolink:AnatomicalEntity ganglion of peripheral nervous system A spatially aggregated collection of nerve cell bodies in the PNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections. (CUMBO). MA:0001161|BIRNLEX:2548|BTO:0001123|EMAPA:32814 hp.json peripheral nervous system ganglion http://purl.obolibrary.org/obo/UBERON_0003338 cumbo UBERON:0005998 biolink:AnatomicalEntity tricuspid valve cusp The three fibrous triangular components and associated flaps of the tricuspid valve. FMA:7240 hp.json septal leaflet of right-sided tricuspid valve|septal cusp of tricuspid valve|septal leaflet of tricuspid valve|cuspis septalis valvae atrioventricularis dextrae|septal cusp of right atrioventricular valve|cuspis septalis (valva tricuspidalis)|septal tricuspid leaflet http://purl.obolibrary.org/obo/UBERON_0005998 pheno_slim UBERON:0003335 biolink:AnatomicalEntity serosa of colon A serous membrane that is part of a colon [Automatically generated definition]. MA:0003199|SCTID:90132000|EMAPA:27387|FMA:14990 hp.json colonic serosa|serosa of large bowel|colon serous membrane|large bowel serous membrane|large bowel serosa|serous membrane of colon|visceral peritoneum of colon|colon serosa|serous membrane of large bowel http://purl.obolibrary.org/obo/UBERON_0003335 human_reference_atlas MPATH:404 biolink:NamedThing soft tissue tumor Neoplasms of the soft and connective tissues. hp.json http://purl.obolibrary.org/obo/MPATH_404 UBERON:0003336 biolink:AnatomicalEntity serosa of duodenum A serous membrane that is part of a duodenum [Automatically generated definition]. EMAPA:27247|FMA:14948|MA:0003212 hp.json duodenal serosa|duodenum serosa|doudenal serosa|serous membrane of duodenum|visceral peritoneum of duodenum|duodenum serous membrane http://purl.obolibrary.org/obo/UBERON_0003336 UBERON:0005997 biolink:AnatomicalEntity tricuspid valve anulus The fibrous ring of the tricuspid valve that attaches the cusps of tricuspid valve to the heart, and which consists of portions of the fibrous scallops of the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp). EMAPA:37421|FMA:9500 hp.json tricuspid valvar anulus|tricuspid anulus|anulus of tricuspid valve|fibrous ring of tricuspid valve http://purl.obolibrary.org/obo/UBERON_0005997 pheno_slim UBERON:0005996 biolink:AnatomicalEntity mitral valve cusp The two fibrous components and associated flaps of the mitral valve. hp.json http://purl.obolibrary.org/obo/UBERON_0005996 pheno_slim UBERON:0003333 biolink:AnatomicalEntity submucosa of jejunum A submucosa that is part of a jejunum [Automatically generated definition]. FMA:14950|EMAPA:27111 hp.json jejunal submucosa|jejunum submucosa http://purl.obolibrary.org/obo/UBERON_0003333 human_reference_atlas CHEBI:2571 biolink:ChemicalSubstance aliphatic alcohol An alcohol derived from an aliphatic compound. KEGG:C02525 hp.json aliphatic alcohols|an aliphatic alcohol|Aliphatic alcohol http://purl.obolibrary.org/obo/CHEBI_2571 3_STAR UBERON:0005995 biolink:AnatomicalEntity mitral valve anulus The fibrous ring of the mitral valve that attaches the cusps of mitral valve to the heart, and which consists of portions of the fibrous scallops of the anterior and posterior cusps. EMAPA:37419|FMA:9498 hp.json anulus of mitral valve|mitral anulus|mitral annulus|fibrous ring of mitral valve|mitral valvar anulus http://purl.obolibrary.org/obo/UBERON_0005995 pheno_slim UBERON:0003334 biolink:AnatomicalEntity serosa of rectum A serous membrane that is part of a rectum [Automatically generated definition]. FMA:15039|EMAPA:27087 hp.json rectum serous membrane|rectum serosa|visceral peritoneum of rectum|rectal serosa|serous membrane of rectum http://purl.obolibrary.org/obo/UBERON_0003334 UBERON:0005994 biolink:AnatomicalEntity chorda tendineae The tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria. UMLS:C0008484|FMA:12225|NCIT:C32307|MESH:D002815|EMAPA:36322|GAID:564 hp.json chordae tendinea|chordae tendineae cordis http://purl.obolibrary.org/obo/UBERON_0005994 pheno_slim UBERON:0003331 biolink:AnatomicalEntity submucosa of colon A submucosa that is part of a colon [Automatically generated definition]. SCTID:61647009|FMA:14985|EMAPA:27379|MA:0003200 hp.json submucosa of large bowel|colon submucosa|large bowel submucosa|colonic submucosa http://purl.obolibrary.org/obo/UBERON_0003331 human_reference_atlas UBERON:0003332 biolink:AnatomicalEntity submucosa of duodenum A submucosa that is part of a duodenum [Automatically generated definition]. FMA:14943|EMAPA:27239|EMAPA:27027|MA:0003213|EMAPA:27097 hp.json duodenal submucosa|doudenal submucosa|duodenum submucosa http://purl.obolibrary.org/obo/UBERON_0003332 human_reference_atlas UBERON:0005993 biolink:AnatomicalEntity pulmonary valve anulus The fibrous ring of the pulmonary valve that attaches the cusps of pulmonary valve to the wall of right ventricle, and which consists of portions of the fibrous scallops of the anterior, right posterior and left posterior cusps. EMAPA:37420|FMA:9503 hp.json fibrous ring of pulmonary valve|pulmonary valvar anulus|pulmonary anulus|anulus of pulmonary valve http://purl.obolibrary.org/obo/UBERON_0005993 pheno_slim UBERON:0003319 biolink:AnatomicalEntity mesenchyme of carpal region Mesenchyme of the carpal region that contributes to the carpal skeleton. EMAPA:19122|EHDAA2:0000220|EHDAA:5200 hp.json mesenchyme of wrist|carpus mesenchyme|carpal region mesenchyme|wrist mesenchyme http://purl.obolibrary.org/obo/UBERON_0003319 UBERON:0003317 biolink:AnatomicalEntity odontogenic papilla of incisor An odontogenic papilla that is part of a incisor tooth [Automatically generated definition]. MA:0003231|EMAPA:32893 hp.json incisor odontogenic papilla|odontogenic papilla of incisor tooth|incisor dental papilla|incisor tooth odontogenic papilla http://purl.obolibrary.org/obo/UBERON_0003317 UBERON:0005979 biolink:AnatomicalEntity crista terminalis The vertical crest of the interior wall of the right atrium that lies to the right of the sinus of the vena cava and separates this from the remainder of the right atrium. Wikipedia:Crista_terminalis|FMA:9236|SCTID:277693004|EMAPA:37837 hp.json crista terminalis cordis|crista terminalis of right atrium|crista terminalis atrii dextri http://purl.obolibrary.org/obo/UBERON_0005979 pheno_slim UBERON:0003318 biolink:AnatomicalEntity mesenchyme of elbow Mesenchyme that is part of a developing elbow [Automatically generated definition]. VHOG:0001075|EHDAA2:0000432|EHDAA:6216|EMAPA:17416|EHDAA:4170 hp.json mesenchyme of cubital region|cubital region mesenchyme|elbow mesenchyme http://purl.obolibrary.org/obo/UBERON_0003318 PATO:0070060 biolink:NamedThing quality of interaction of a substance with electromagnetic radiation A quality of a substance on which or through which electromagnetic radiation impinges or traverses with respect to radiation. This substance quality changes the quality of the incident radiation with respect to any of: intensity, direction, scatter and wavelength. hp.json http://purl.obolibrary.org/obo/PATO_0070060 attribute_slim UBERON:0003326 biolink:AnatomicalEntity mesenchyme of mammary gland Mesenchyme that is part of a developing mammary gland. EHDAA2:0001058|VHOG:0001087|EHDAA:6528|EMAPA:17761 hp.json lobe of breast mesenchyme|lactiferous gland mesenchyme|mesenchyme of lobe of mammary gland|mammary mesenchyme|mammary gland mesenchyme|lobe of mammary gland mesenchyme|mesenchyme of lactiferous gland|mesenchyme of lobe of breast http://purl.obolibrary.org/obo/UBERON_0003326 UBERON:0005989 biolink:AnatomicalEntity atrioventricular septum The wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve. SCTID:280151006|EMAPA:37431|Wikipedia:Atrioventricular_septum|FMA:7136 hp.json membranous atrioventricular septum http://purl.obolibrary.org/obo/UBERON_0005989 pheno_slim UBERON:0003327 biolink:AnatomicalEntity mesenchyme of forearm Mesenchyme that is part of a developing lower arm [Automatically generated definition]. EHDAA2:0000555|VHOG:0000504|EMAPA:17419|EHDAA:6222|EHDAA:4176 hp.json http://purl.obolibrary.org/obo/UBERON_0003327 UBERON:0005988 biolink:AnatomicalEntity atrium myocardial trabecula The supporting bundles of muscular fibers lining the walls of the atrial myocardium. EMAPA:37432|ZFA:0005810 hp.json trabecula of atrium|trabecular layer of the atrium|atrial trabecula|atrium myocardial trabeculae|trabecular layer of atrium http://purl.obolibrary.org/obo/UBERON_0005988 pheno_slim UBERON:0003324 biolink:AnatomicalEntity mesenchyme of lower jaw Mesenchyme that is part of a developing lower jaw [Automatically generated definition]. EHDAA2:0001024|EMAPA:17916|EHDAA:8003|VHOG:0001069 hp.json lower jaw mesenchyme|ventral mandibular arch mesenchyme|mesenchyme of ventral mandibular arch http://purl.obolibrary.org/obo/UBERON_0003324 CHEBI:2580 biolink:ChemicalSubstance unsaturated fatty acid anion Any fatty acid anion containing at least one C-C unsaturated bond; formed by deprotonation of the carboxylic acid moiety. hp.json http://purl.obolibrary.org/obo/CHEBI_2580 3_STAR UBERON:0003325 biolink:AnatomicalEntity mesenchyme of pinna Mesenchyme that is part of a developing pinna [Automatically generated definition]. VHOG:0000747|EMAPA:17591|EHDAA:8981|EHDAA2:0001469 hp.json mesenchyme of auricula (auris externa)|mesenchyme of auricle of external ear|auricle mesenchyme|mesenchyme of pinna of ear|auricula mesenchyme|pinna of ear mesenchyme|mesenchyme of auricula|pinna mesenchyme|mesenchyme of auricle|auricula (auris externa) mesenchyme|auricle of external ear mesenchyme|mesenchyme of auricle of ear|auricle of ear mesenchyme http://purl.obolibrary.org/obo/UBERON_0003325 UBERON:0005985 biolink:AnatomicalEntity coronary vessel Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation. MESH:D003331|Wikipedia:Coronary_circulation hp.json http://purl.obolibrary.org/obo/UBERON_0005985 pheno_slim UBERON:0003322 biolink:AnatomicalEntity mesenchyme of shoulder Mesenchyme that is part of a developing shoulder [Automatically generated definition]. EHDAA:6232|EHDAA:4184|EHDAA2:0001837|VHOG:0001035|EMAPA:17423 hp.json shoulder mesenchyme http://purl.obolibrary.org/obo/UBERON_0003322 OIO:hasNarrowSynonym biolink:NamedThing has_narrow_synonym hp.json http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym UBERON:0003323 biolink:AnatomicalEntity mesenchyme of upper jaw Mesenchyme that is part of a developing upper jaw [Automatically generated definition]. EMAPA:17929|EHDAA2:0002124|VHOG:0001099|EHDAA:8031 hp.json palatoquadrate arch mesenchyme|upper jaw mesenchyme|mesenchyme of palatoquadrate arch http://purl.obolibrary.org/obo/UBERON_0003323 UBERON:0003320 biolink:AnatomicalEntity mesenchyme of hip Mesenchyme that is part of a developing hip [Automatically generated definition]. EHDAA:5157|EMAPA:17492|VHOG:0001029|EHDAA:6182|EHDAA2:0000786 hp.json mesenchyme of regio coxae|hip mesenchyme|mesenchyme of hip region|hip region mesenchyme|regio coxae mesenchyme http://purl.obolibrary.org/obo/UBERON_0003320 UBERON:0005983 biolink:AnatomicalEntity heart layer The laminar structure of the heart. hp.json http://purl.obolibrary.org/obo/UBERON_0005983 pheno_slim|non_informative UBERON:0003321 biolink:AnatomicalEntity mesenchyme of knee Mesenchyme that is part of a developing knee [Automatically generated definition]. VHOG:0001070|EHDAA:6188|EHDAA:5163|EHDAA2:0000898|EMAPA:17495 hp.json knee mesenchyme http://purl.obolibrary.org/obo/UBERON_0003321 UBERON:0005969 biolink:AnatomicalEntity eye trabecular meshwork A pore-like structure surrounding the entire circumference of the anterior chamber of the eye through which aqueous humor circulates[MP]. BTO:0001605|MESH:D014129|UMLS:C0040573|EV:0100352|MA:0003086|EFO:0003077|NCIT:C12803|GAID:897|CALOHA:TS-1058|FMA:77660 hp.json cribiform ligament|reticulum trabeculare sclerae|ligamentum peactin-tum iridis|reticulum trabeculare|iridis|pectinate ligament|pectinate ligament of iris|trabecular meshwork|ligamentum pectinatum|Hueck's ligament|ligamentum pectinatum anguli iridocornealis|trabecular mesh|eye trabecular meshwork|trabecular meshwork of the eye|ligamentum pectinatum iridis|scleral trabecule|scleral trabeculae|scribiform ligament|scleral trabecular http://purl.obolibrary.org/obo/UBERON_0005969 pheno_slim|efo_slim CHEBI:22323 biolink:ChemicalSubstance alkyl group A univalent group -CnH2n+1 derived from an alkane by removal of a hydrogen atom from any carbon atom. hp.json groupe alkyle|grupos alquilo|grupo alquilo|alkyl group|alkyl groups http://purl.obolibrary.org/obo/CHEBI_22323 3_STAR NCBITaxon:9526 biolink:OrganismalEntity Catarrhini hp.json http://purl.obolibrary.org/obo/NCBITaxon_9526 UBERON:1000006 biolink:AnatomicalEntity collection of hair on forehead A collection of hairs that grows on the forehead. hp.json http://purl.obolibrary.org/obo/UBERON_1000006 phenotype_rcn CHEBI:36962 biolink:ChemicalSubstance organochalcogen compound An organochalcogen compound is a compound containing at least one carbon-chalcogen bond. hp.json organochalcogen compound|organochalcogen compounds http://purl.obolibrary.org/obo/CHEBI_36962 3_STAR UBERON:0005970 biolink:AnatomicalEntity brain commissure Any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain. EMAPA:37446 hp.json http://purl.obolibrary.org/obo/UBERON_0005970 pheno_slim CHEBI:36963 biolink:ChemicalSubstance organooxygen compound An organochalcogen compound containing at least one carbon-oxygen bond. PMID:17586126 hp.json organooxygen compounds|organooxygen compound http://purl.obolibrary.org/obo/CHEBI_36963 3_STAR OBO:MAXO_0000408 biolink:NamedThing biopsy of submandibular gland Removal of tissue from the submandibular gland. hp.json submandibular gland biopsy http://purl.obolibrary.org/obo/MAXO_0000408 CHEBI:36961 biolink:ChemicalSubstance chalcocarbonic acid hp.json chalcocarbonic acids|chalcocarbonic acids|chalcocarbonic acid http://purl.obolibrary.org/obo/CHEBI_36961 3_STAR OBO:MAXO_0000409 biolink:NamedThing biopsy of testis Removal of tissue from the testis. hp.json testis biopsy http://purl.obolibrary.org/obo/MAXO_0000409 UBERON:1000015 biolink:AnatomicalEntity skin of snout A zone of skin that is part of the snout. EMAPA:37746|MA:0003079 hp.json snout skin http://purl.obolibrary.org/obo/UBERON_1000015 phenotype_rcn UBERON:0003315 biolink:AnatomicalEntity mesenchyme of ovary Mesenchyme that is part of a developing ovary [Automatically generated definition]. EHDAA:8128|EHDAA2:0001362|VHOG:0001441 hp.json mesenchyme of female reproductive system gonad|mesenchyme of female reproductive system gonada|gonada of female reproductive system mesenchyme|ovary mesenchyme|gonad of female reproductive system mesenchyme|mesenchyme of gonada of female reproductive system|mesenchyme of gonad of female reproductive system|female reproductive system gonad mesenchyme|female reproductive system gonada mesenchyme http://purl.obolibrary.org/obo/UBERON_0003315 OBO:MAXO_0000402 biolink:NamedThing biopsy of sebaceous gland Removal of tissue from the sebaceous gland. hp.json sebaceous gland biopsy http://purl.obolibrary.org/obo/MAXO_0000402 UBERON:0003316 biolink:AnatomicalEntity mesenchyme of yolk sac The portion of the yolk sac that is derived from mesoderm and consists of mesenchyme. VHOG:0000617|EHDAA2:0002216|EHDAA:168|EMAPA:16087|VHOG:0000503|EHDAA:205|EMAPA:16267 hp.json yolk sac mesenchyme http://purl.obolibrary.org/obo/UBERON_0003316 OBO:MAXO_0000403 biolink:NamedThing biopsy of small intestine Removal of tissue from the small intestine. hp.json small intestine biopsy http://purl.obolibrary.org/obo/MAXO_0000403 GO:0070455 biolink:BiologicalProcess positive regulation of heme biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of heme. hp.json activation of heme biosynthetic process|positive regulation of heme biosynthesis|stimulation of heme biosynthetic process|upregulation of heme biosynthetic process|positive regulation of heme anabolism|positive regulation of heme synthesis|up-regulation of heme biosynthetic process|positive regulation of haem biosynthetic process|positive regulation of heme formation|up regulation of heme biosynthetic process http://purl.obolibrary.org/obo/GO_0070455 OBO:MAXO_0000400 biolink:NamedThing biopsy of saliva-secreting gland Removal of tissue from the saliva-secreting gland. hp.json saliva-secreting gland biopsy http://purl.obolibrary.org/obo/MAXO_0000400 OBO:MAXO_0000401 biolink:NamedThing biopsy of scrotum Removal of tissue from the scrotum. hp.json scrotum biopsy http://purl.obolibrary.org/obo/MAXO_0000401 UBERON:0003314 biolink:AnatomicalEntity eye mesenchyme Mesenchyme that is part of a developing camera-type eye. VHOG:0001084|EHDAA2:0000485|EHDAA:2910|EMAPA:16673 hp.json mesenchyme of eye http://purl.obolibrary.org/obo/UBERON_0003314 OBO:MAXO_0000406 biolink:NamedThing biopsy of stomach Removal of tissue from the stomach. hp.json stomach biopsy http://purl.obolibrary.org/obo/MAXO_0000406 GO:0070453 biolink:BiologicalProcess regulation of heme biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of heme. hp.json regulation of heme synthesis|regulation of heme formation|regulation of haem biosynthetic process|regulation of haem biosynthesis|regulation of heme biosynthesis|regulation of heme anabolism http://purl.obolibrary.org/obo/GO_0070453 UBERON:0003312 biolink:AnatomicalEntity mesenchyme of testis Mesenchyme that is part of a developing testis [Automatically generated definition]. EMAPA:35858|EHDAA2:0002010|VHOG:0001442|EHDAA:8150 hp.json testis mesenchyme http://purl.obolibrary.org/obo/UBERON_0003312 GO:0070454 biolink:BiologicalProcess negative regulation of heme biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of heme. hp.json negative regulation of haem biosynthetic process|negative regulation of heme anabolism|negative regulation of heme biosynthesis|down-regulation of heme biosynthetic process|negative regulation of heme synthesis|down regulation of heme biosynthetic process|negative regulation of heme formation|inhibition of heme biosynthetic process|downregulation of heme biosynthetic process http://purl.obolibrary.org/obo/GO_0070454 OBO:MAXO_0000407 biolink:NamedThing biopsy of subglottis Removal of tissue from the subglottis. hp.json subglottis biopsy http://purl.obolibrary.org/obo/MAXO_0000407 OBO:MAXO_0000404 biolink:NamedThing biopsy of spinal cord Removal of tissue from the spinal cord. hp.json spinal cord biopsy http://purl.obolibrary.org/obo/MAXO_0000404 GO:0070451 biolink:NamedThing cell hair hp.json http://purl.obolibrary.org/obo/GO_0070451 UBERON:0005971 biolink:AnatomicalEntity amniotic fold A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. EMAPA:16076 hp.json amnionic fold|amnionic fold http://purl.obolibrary.org/obo/UBERON_0005971 pheno_slim OBO:MAXO_0000405 biolink:NamedThing biopsy of spleen Removal of tissue from the spleen. hp.json spleen biopsy http://purl.obolibrary.org/obo/MAXO_0000405 CHEBI:24995 biolink:ChemicalSubstance lactam Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. hp.json Laktam|lactam|lactams|lactams|Laktame http://purl.obolibrary.org/obo/CHEBI_24995 3_STAR CHEBI:22331 biolink:ChemicalSubstance alkylamines Any amine formally derived from ammonia by replacing one, two or three hydrogen atoms by alkyl groups. hp.json http://purl.obolibrary.org/obo/CHEBI_22331 3_STAR CHEBI:48944 biolink:ChemicalSubstance isobutyrate A branched, short-chain, saturated fatty acid anion; the conjugate base of isobutyric acid, formed by deprotonation of the carboxylic acid group. Beilstein:3903644|Reaxys:3903644|Gmelin:324364|UM-BBD_compID:c0383|CAS:5711-69-3|CAS:5711-69-3|MetaCyc:ISOBUTYRATE hp.json 2-methylpropanoate|iPrCO2 anion|2-methylpropanoate|isobutanoate|i-butyrate|isobutyric acid anion|Isobutyrat|2-methylpropionate|methylpropanoate|2-methylpropanoic acid, ion(1-) http://purl.obolibrary.org/obo/CHEBI_48944 3_STAR CHEBI:24996 biolink:ChemicalSubstance lactate A hydroxy monocarboxylic acid anion that is the conjugate base of lactic acid, arising from deprotonation of the carboxy group. KEGG:C01432|MetaCyc:Lactate|CAS:113-21-3|Gmelin:240074|Beilstein:3587719|CAS:113-21-3 hp.json 2-hydroxypropanoate|2-hydroxypropionate|MeCH(OH)CO2 anion|2-hydroxypropanoic acid, ion(1-)|b-lactate|lactate|beta-lactate http://purl.obolibrary.org/obo/CHEBI_24996 3_STAR PATO:0070044 biolink:NamedThing anatomical structure quality A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. hp.json http://purl.obolibrary.org/obo/PATO_0070044 PATO:0070045 biolink:NamedThing anatomical histological quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. hp.json http://purl.obolibrary.org/obo/PATO_0070045 PATO:0070046 biolink:NamedThing neutrophillic An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction that stains and colors, pale-pink, with Wright-Giemsa stain. hp.json http://purl.obolibrary.org/obo/PATO_0070046 PATO:0070047 biolink:NamedThing polychromatophilic An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for both basic and acid stains under specific pH conditions. hp.json http://purl.obolibrary.org/obo/PATO_0070047 UBERON:1000021 biolink:AnatomicalEntity skin of face A zone of skin that is part of the face. SCTID:361703006|UMLS:C0222084|FMA:24758|NCIT:C33561|EMAPA:36657 hp.json facial skin|face skin http://purl.obolibrary.org/obo/UBERON_1000021 phenotype_rcn|pheno_slim UBERON:1000020 biolink:AnatomicalEntity collection of hair on snout A collection of hairs that grows on the snout. hp.json http://purl.obolibrary.org/obo/UBERON_1000020 phenotype_rcn UBERON:1000023 biolink:AnatomicalEntity spleen pulp The parenchyma of the spleen, consisting of lymphocytes and macrophages. It lies between the splenic trabecula. Red pulp is the part suffused with blood and white pulp consists of areas of lymphatic tissue where there are sleeves of lymphocytes and macrophages. NCIT:C33603|MA:0002487|EMAPA:35805|FMA:15845|UMLS:C0229691 hp.json pulp of spleen|splenic pulp|Malpighian corpuscles http://purl.obolibrary.org/obo/UBERON_1000023 human_reference_atlas UBERON:1000024 biolink:AnatomicalEntity parenchyma of spleen A parenchyma that is part of a spleen. FMA:16029 hp.json splenic parenchyma http://purl.obolibrary.org/obo/UBERON_1000024 GO:0070446 biolink:BiologicalProcess negative regulation of oligodendrocyte progenitor proliferation Any process that stops or decreases the rate or extent of oligodendrocyte progenitor proliferation. hp.json negative regulation of oligodendrocyte precursor proliferation http://purl.obolibrary.org/obo/GO_0070446 UBERON:0003304 biolink:AnatomicalEntity mesoderm blood island A blood island that is part of a mesoderm. EHDAA2:0003241|EHDAA:170|EMAPA:16115 hp.json mesenchyme blood island|mesoderm blood islands http://purl.obolibrary.org/obo/UBERON_0003304 UBERON:0005966 biolink:AnatomicalEntity outflow part of left atrium An outflow tract of atrium that is part of a left atrium. FMA:9551 hp.json outflow tract of left atrium|main part of left atrium http://purl.obolibrary.org/obo/UBERON_0005966 GO:0070447 biolink:BiologicalProcess positive regulation of oligodendrocyte progenitor proliferation Any process that activates or increases the rate or extent of oligodendrocyte progenitor proliferation. hp.json positive regulation of oligodendrocyte precursor proliferation http://purl.obolibrary.org/obo/GO_0070447 GO:0070444 biolink:BiologicalProcess oligodendrocyte progenitor proliferation The multiplication or reproduction of oligodendrocyte progenitor cells by cell division, resulting in the expansion of their population. Oligodendrocyte progenitors give rise to oligodendrocytes, which form the insulating myelin sheath of axons in the central nervous system. hp.json oligodendrocyte precursor proliferation http://purl.obolibrary.org/obo/GO_0070444 UBERON:0003302 biolink:AnatomicalEntity roof plate of metencephalon A roof plate that is part of a metencephalon [Automatically generated definition]. EHDAA:5524|EMAPA:16483|EHDAA2:0001160|VHOG:0000770|EMAPA:16487 hp.json roofplate of metencephalon|epencephalon-2 roof plate|metencephalon roofplate|roofplate of epencephalon-2|roof plate metencephalon|metencephalon roof plate|roof plate of epencephalon-2|epencephalon-2 roofplate|roofplate medulla metencephalon http://purl.obolibrary.org/obo/UBERON_0003302 UBERON:0005965 biolink:AnatomicalEntity outflow part of right atrium Outflow part of atrium which consists of wall and cavity of the outflow part of right atrium and the tricuspid valve.[FMA]. FMA:9550 hp.json outflow tract of right atrium|main part of right atrium http://purl.obolibrary.org/obo/UBERON_0005965 UBERON:0003303 biolink:AnatomicalEntity roof plate of medulla oblongata A roof plate that is part of a medulla oblongata [Automatically generated definition]. EHDAA:7614|VHOG:0000776|EHDAA2:0001099 hp.json roofplate of medulla oblongata|roof plate of bulb|roof plate medulla oblongata|bulb roofplate|medulla oblongata roofplate|roofplate of metepencephalon|roof plate of medulla oblonmgata|metepencephalon roof plate|medulla oblonmgata roof plate|metepencephalon roofplate|medulla oblonmgata roofplate|roofplate of bulb|medulla oblongata roof plate|roof plate of metepencephalon|bulb roof plate|roofplate medulla oblongata|roofplate of medulla oblonmgata http://purl.obolibrary.org/obo/UBERON_0003303 GO:0070445 biolink:BiologicalProcess regulation of oligodendrocyte progenitor proliferation Any process that modulates the frequency, rate or extent of oligodendrocyte progenitor proliferation. hp.json regulation of oligodendrocyte precursor proliferation http://purl.obolibrary.org/obo/GO_0070445 UBERON:0003300 biolink:AnatomicalEntity roof plate of telencephalon A roof plate that is part of a telencephalon [Automatically generated definition]. EHDAA:3512|EHDAA2:0001994|VHOG:0000774|EMAPA:16657 hp.json roofplate of telencephalon|telencephalon roofplate|roofplate medulla telencephalon|telencephalon roof plate|roof plate telencephalon http://purl.obolibrary.org/obo/UBERON_0003300 UBERON:0003301 biolink:AnatomicalEntity roof plate of diencephalon A roof plate that is part of a diencephalon [Automatically generated definition]. EHDAA2:0000402|EMAPA:16909|TAO:0001358|EHDAA:3494|EHDAA:1979|VHOG:0000771|ZFA:0001358|EHDAA:2657 hp.json roof plate of interbrain|roofplate of diencephalon|mature diencephalon roofplate|interbrain roofplate|between brain roof plate|roof plate of between brain|diencephalon roof plate|roof plate diencephalon|roof plate of mature diencephalon|roofplate of interbrain|diencephalon roofplate|roofplate of between brain|roofplate medulla diencephalon|roof plate diencephalic region|interbrain roof plate|mature diencephalon roof plate|between brain roofplate|roofplate of mature diencephalon http://purl.obolibrary.org/obo/UBERON_0003301 vertebrate_core CHEBI:24961 biolink:ChemicalSubstance ketoaldonate hp.json ketoaldonate|ketoaldonates http://purl.obolibrary.org/obo/CHEBI_24961 3_STAR CHEBI:22301 biolink:ChemicalSubstance aldonic acid Any carbohydrate acid formed by oxidising the aldehyde functional group of an aldose to a carboxylic acid functional group. Aldonic acids have the general formula HOCH2[CH(OH)]nC(=O)OH. hp.json aldonic acid|aldonic acids http://purl.obolibrary.org/obo/CHEBI_22301 3_STAR CHEBI:24963 biolink:ChemicalSubstance ketoaldonic acid Oxo carboxylic acids formally derived from aldonic acids by replacement of a secondary CHOH group by a carbonyl group. hp.json ketoaldonic acid|ketoaldonic acids http://purl.obolibrary.org/obo/CHEBI_24963 3_STAR UBERON:0003373 biolink:AnatomicalEntity ectoderm of footplate An ectoderm that is part of a footplate. EMAPA:17250 hp.json http://purl.obolibrary.org/obo/UBERON_0003373 UBERON:0003374 biolink:AnatomicalEntity chorionic ectoderm An extraembryonic structure that develops_from a ectoderm and is part of a chorion. BTO:0005145|EMAPA:16113 hp.json chorionic epithelium|chorion ectoderm|chorion epithelium http://purl.obolibrary.org/obo/UBERON_0003374 UBERON:0003371 biolink:AnatomicalEntity pelvic appendage bud ectoderm An unilaminar epithelium that surrounds a pelvic appendage bud. EMAPA:16780|EHDAA2:0001034|VHOG:0001048 hp.json hindlimb bud ectoderm|hindlimb ectoderm|hindlimb ectoderm|lower limb bud ectoderm|pelvic fin bud ectoderm|hindlimb bud ectoderm|leg ectoderm http://purl.obolibrary.org/obo/UBERON_0003371 UBERON:0003372 biolink:AnatomicalEntity pectoral appendage bud ectoderm An unilaminar epithelium that surrounds a pectoral appendage bud. EHDAA2:0002134|EMAPA:16407|VHOG:0001047 hp.json wing ectoderm|forelimb bud ectoderm|forelimb bud ectoderm|pectoral fin bud ectoderm|upper limb bud ectoderm|forelimb ectoderm|arm ectoderm http://purl.obolibrary.org/obo/UBERON_0003372 CHEBI:48937 biolink:ChemicalSubstance phytane Beilstein:1744639|CAS:638-36-8 hp.json 2,6,10,14-tetramethylhexadecane|Phytan http://purl.obolibrary.org/obo/CHEBI_48937 3_STAR UBERON:0003379 biolink:AnatomicalEntity cardiac muscle of right atrium A portion of cardiac muscle tissue that is part of a right atrium [Automatically generated definition]. EMAPA:17326|SCTID:362018002|VHOG:0001227|FMA:7282|EHDAA2:0004155 hp.json right atrium myocardium|right atrium heart muscle|cardiac muscle of heart right atrium|cardiac muscle tissue of right atrium of heart|cardiac muscle tissue of right atrium|myocardium of right atrium|textus muscularis of myocardium of right cardiac atrium|cardiac muscle of cardiac right atrium|textus muscularis of myocardium of right atrium of heart|cardiac muscle tissue of heart right atrium|textus muscularis of myocardium of right atrium http://purl.obolibrary.org/obo/UBERON_0003379 CHEBI:22314 biolink:ChemicalSubstance alkali metal atom hp.json alkali metals|metal alcalino|metal alcalin|alkali metal|metaux alcalins|Alkalimetall|Alkalimetalle|metales alcalinos http://purl.obolibrary.org/obo/CHEBI_22314 3_STAR CHEBI:22315 biolink:ChemicalSubstance alkaloid Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids. Wikipedia:Alkaloid hp.json alcaloide|alkaloids|Alkaloide|alcaloides|Alkaloid http://purl.obolibrary.org/obo/CHEBI_22315 3_STAR CHEBI:22313 biolink:ChemicalSubstance alkaline earth metal atom hp.json alkaline earth metals|metal alcalinoterreo|Erdalkalimetalle|alkaline-earth metals|Erdalkalimetall|metal alcalino-terreux|alkaline-earth metal|metaux alcalino-terreux|metales alcalinoterreos|alkaline earth metal http://purl.obolibrary.org/obo/CHEBI_22313 3_STAR UBERON:0003360 biolink:AnatomicalEntity epithelium of parotid gland An epithelium that is part of a parotid gland [Automatically generated definition]. VHOG:0001434|BTO:0004555|EMAPA:18538 hp.json parotid gland duct epithelium|epithelium of parotid|epithelial tissue of parotid gland|parotid gland epithelial tissue|parotid epithelial tissue|parotid epithelium|parotid gland epithelium|epithelium of parotid gland http://purl.obolibrary.org/obo/UBERON_0003360 UBERON:0003361 biolink:AnatomicalEntity epithelium of sublingual gland An epithelium that is part of a sublingual gland [Automatically generated definition]. EMAPA:18810|VHOG:0001098|BTO:0004559 hp.json epithelial tissue of ductus sublingualis|epithelial tissue of sublingual gland|ductus sublingualis epithelial tissue|sublingual gland epithelium|epithelium of Rivinus'gland|Rivinus'gland epithelium|epithelial tissue of Rivinus'gland|Rivinus'gland epithelial tissue|sublingual gland epithelial tissue|sublingual gland duct epithelium|ductus sublingualis epithelium|sublingual duct epithelium|epithelium of ductus sublingualis http://purl.obolibrary.org/obo/UBERON_0003361 GO:0070469 biolink:CellularComponent respirasome The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. hp.json membrane electron transport chain|respiratory chain http://purl.obolibrary.org/obo/GO_0070469 UBERON:0003368 biolink:AnatomicalEntity epithelium of hard palate An epithelium that is part of a hard palate [Automatically generated definition]. EMAPA:18953 hp.json hard palate epithelium|epithelial tissue of hard palate|hard palate epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003368 CHEBI:48927 biolink:ChemicalSubstance N-acyl-L-alpha-amino acid Any L-alpha-amino acid carrying an N-acyl substituent. KEGG:C02850 hp.json N-Acyl-L-amino acid http://purl.obolibrary.org/obo/CHEBI_48927 3_STAR UBERON:0003364 biolink:AnatomicalEntity epithelium of right lung An epithelium that is part of a right lung [Automatically generated definition]. EMAPA:17663|MA:0003132 hp.json right lung epithelium|right lung epithelial tissue|epithelial tissue of right lung http://purl.obolibrary.org/obo/UBERON_0003364 UBERON:0003365 biolink:AnatomicalEntity epithelium of left lung An epithelium that is part of a left lung [Automatically generated definition]. EMAPA:17655|MA:0003131 hp.json left lung epithelium|epithelial tissue of left lung|left lung epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003365 UBERON:0003351 biolink:AnatomicalEntity pharyngeal epithelium An epithelium that is part of a pharynx [Automatically generated definition]. MA:0002725|XAO:0003202|BTO:0005240|RETIRED_EHDAA2:0001460|EMAPA:16708|BSA:0000112|ZFA:0001174|TAO:0001174 hp.json pharynx epithelial tissue|pharynx epithelium|epithelium of pharynx|epithelial tissue of pharynx http://purl.obolibrary.org/obo/UBERON_0003351 vertebrate_core UBERON:0003352 biolink:AnatomicalEntity epithelium of midgut An epithelium that is part of a midgut. EHDAA2:0001195|EMAPA:16569|MA:0003205|BTO:0005053 hp.json epithelial tissue of midgut|midgut epithelium|midgut epithelium|midgut epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003352 UBERON:0003350 biolink:AnatomicalEntity epithelium of mucosa A layer of epithelial cells on the surface of the mucosa. BTO:0003752 hp.json lamina epithelialis mucosae|lamina epithelialis mucosa http://purl.obolibrary.org/obo/UBERON_0003350 UBERON:0015329 biolink:AnatomicalEntity respiratory system basement membrane A basement membrane of epithelium that is part of a respiratory system. MA:0001815|EMAPA:37570 hp.json http://purl.obolibrary.org/obo/UBERON_0015329 UBERON:0003359 biolink:AnatomicalEntity epithelium of submandibular gland An epithelium that is part of a submandibular gland [Automatically generated definition]. BTO:0004557|EMAPA:18813|VHOG:0000989 hp.json submandibular duct epithelium|submandibular gland epithelial tissue|submaxillary gland epithelium|submandibular gland epithelium|epithelial tissue of submandibular gland|submandibular gland duct epithelium http://purl.obolibrary.org/obo/UBERON_0003359 UBERON:0003357 biolink:AnatomicalEntity epithelium of tongue An epithelium that is part of a tongue [Automatically generated definition]. BTO:0000992|NCIT:C49300|UMLS:C1710436|EMAPA:17881|FMA:284658|CALOHA:TS-1051|EHDAA2:0004598|MA:0001592 hp.json lingual epithelium|tongue epithelium|tongue epithelial tissue|epithelial tissue of tongue http://purl.obolibrary.org/obo/UBERON_0003357 pheno_slim UBERON:0003358 biolink:AnatomicalEntity epithelium of soft palate An epithelium that is part of a soft palate [Automatically generated definition]. EMAPA:18950 hp.json soft palate epithelial tissue|soft palate epithelium|epithelial tissue of soft palate http://purl.obolibrary.org/obo/UBERON_0003358 UBERON:0003355 biolink:AnatomicalEntity epithelium of incisor An epithelium that is part of a incisor tooth [Automatically generated definition]. EMAPA:32890|MA:0003223 hp.json incisor epithelial tissue|incisor tooth epithelium|epithelium of incisor tooth|epithelial tissue of incisor tooth|incisor epithelium|incisor tooth epithelial tissue|epithelial tissue of incisor http://purl.obolibrary.org/obo/UBERON_0003355 UBERON:0003356 biolink:AnatomicalEntity epithelium of nasal septum An epithelium that is part of a nasal septum [Automatically generated definition]. EMAPA:18442 hp.json epithelial tissue of nasal septum|nasal septum epithelium|nasal septum epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003356 UBERON:0003353 biolink:AnatomicalEntity epithelium of hindgut An epithelium that is part of a hindgut [Automatically generated definition]. MA:0003206|EHDAA2:0000782|EMAPA:16717 hp.json epithelial tissue of hindgut|hindgut epithelium|hindgut epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003353 UBERON:0003354 biolink:AnatomicalEntity epithelium of rectum An epithelium that is part of a rectum [Automatically generated definition]. VHOG:0001037|EMAPA:17898|MA:0003219|FMA:17510|CALOHA:TS-2066|EHDAA2:0001594 hp.json epithelial tissue of rectum|rectal epithelium|rectum epithelium|rectum epithelial tissue http://purl.obolibrary.org/obo/UBERON_0003354 UBERON:0003339 biolink:AnatomicalEntity ganglion of central nervous system A ganglion that is part of a central nervous system [Automatically generated definition]. EMAPA:16658|EHDAA2:0000227|FMA:83843 hp.json neuraxis ganglion|central nervous system ganglion|ganglion of neuraxis http://purl.obolibrary.org/obo/UBERON_0003339 UBERON:0003346 biolink:AnatomicalEntity mucosa of rectum A mucosa that is part of a rectum [Automatically generated definition]. SCTID:362167003|CALOHA:TS-2107|EMAPA:27081|MA:0003218|FMA:15033 hp.json rectal mucosa|organ mucosa of rectum|mucous membrane of rectum|rectum mucosa|rectum organ mucosa|rectal mucous membrane|rectum mucosa of organ|rectum mucous membrane|mucosa of organ of rectum http://purl.obolibrary.org/obo/UBERON_0003346 UBERON:0003342 biolink:AnatomicalEntity mucosa of anal canal A mucosa that is part of an anal canal [Automatically generated definition]. UMLS:C0227414|NCIT:C60784|EMAPA:27531|SCTID:362170004|FMA:74654 hp.json mucous membrane of anatomical anal canal|anal region mucosa|anatomical anal canal mucosa of organ|organ mucosa of anatomical anal canal|anal region organ mucosa|anal canal viewed anatomically mucosa of organ|mucosa of anatomical anal canal|anal canal mucous membrane|anal canal viewed anatomically mucosa|anal mucosa|anal canal viewed anatomically organ mucosa|anal mucous membrane|mucous membrane of anal region|mucosa of organ of anal canal|anatomical anal canal mucosa|anal region mucosa of organ|organ mucosa of anal region|mucosa of anal region|mucosa of organ of anatomical anal canal|anatomical anal canal organ mucosa|anatomical anal canal mucous membrane|anal canal viewed anatomically mucous membrane|anal canal mucosa|anal canal organ mucosa|mucosa of organ of anal canal viewed anatomically|mucosa of organ of anal region|organ mucosa of anal canal|mucous membrane of anal canal|anal region mucous membrane|mucosa of anal canal viewed anatomically|anal canal mucosa of organ|mucous membrane of anal canal viewed anatomically|organ mucosa of anal canal viewed anatomically http://purl.obolibrary.org/obo/UBERON_0003342 human_reference_atlas UBERON:0003343 biolink:AnatomicalEntity mucosa of oral region A mucosa that is part of a oral opening [Automatically generated definition]. SCTID:362083000|EMAPA:26937 hp.json oral region mucous membrane|oral part of face mucosa|mucosa of organ of oral region|oral opening mucous membrane|subdivision of mouth mucosa of organ|oral part of face organ mucosa|mucosa of organ of oral opening|subdivision of mouth mucous membrane|subdivision of mouth mucosa|oral part of face mucosa of organ|mucosa of oral opening|organ mucosa of oral part of face|mucous membrane of oral part of face|mucous membrane of oral opening|subdivision of mouth organ mucosa|mucosa of organ of subdivision of mouth|organ mucosa of oral opening|mucosa of oral part of face|oral part of face mucous membrane|organ mucosa of oral region|mucosa of subdivision of mouth|mucosa of organ of oral part of face|oral region mucosa|oral opening mucosa|mucous membrane of oral region|oral opening mucosa of organ|oral region mucosa of organ|mucous membrane of subdivision of mouth|oral region organ mucosa|organ mucosa of subdivision of mouth|oral opening organ mucosa http://purl.obolibrary.org/obo/UBERON_0003343 RO:0015006 biolink:NamedThing different in magnitude relative to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. hp.json http://purl.obolibrary.org/obo/RO_0015006 RO:0015007 biolink:NamedThing increased in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. hp.json http://purl.obolibrary.org/obo/RO_0015007 RO:0015008 biolink:NamedThing decreased in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. hp.json http://purl.obolibrary.org/obo/RO_0015008 GO:0045634 biolink:BiologicalProcess regulation of melanocyte differentiation Any process that modulates the frequency, rate or extent of melanocyte differentiation. hp.json regulation of melanophore differentiation http://purl.obolibrary.org/obo/GO_0045634 GO:0006023 biolink:BiologicalProcess aminoglycan biosynthetic process The chemical reactions and pathways resulting in the formation of aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. hp.json aminoglycan anabolism|aminoglycan biosynthesis|aminoglycan synthesis|aminoglycan formation http://purl.obolibrary.org/obo/GO_0006023 GO:0006024 biolink:BiologicalProcess glycosaminoglycan biosynthetic process The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. hp.json glycosaminoglycan formation|glycosaminoglycan biosynthesis|glycosaminoglycan anabolism|glycosaminoglycan synthesis http://purl.obolibrary.org/obo/GO_0006024 GO:0006022 biolink:BiologicalProcess aminoglycan metabolic process The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. hp.json aminoglycan metabolism http://purl.obolibrary.org/obo/GO_0006022 GO:0045639 biolink:BiologicalProcess positive regulation of myeloid cell differentiation Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation. hp.json up-regulation of myeloid cell differentiation|activation of myeloid cell differentiation|upregulation of myeloid cell differentiation|up regulation of myeloid cell differentiation|stimulation of myeloid cell differentiation http://purl.obolibrary.org/obo/GO_0045639 GO:0045637 biolink:BiologicalProcess regulation of myeloid cell differentiation Any process that modulates the frequency, rate or extent of myeloid cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0045637 GO:0045638 biolink:BiologicalProcess negative regulation of myeloid cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation. hp.json downregulation of myeloid cell differentiation|down regulation of myeloid cell differentiation|inhibition of myeloid cell differentiation|down-regulation of myeloid cell differentiation http://purl.obolibrary.org/obo/GO_0045638 GO:0045635 biolink:BiologicalProcess negative regulation of melanocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of melanocyte differentiation. hp.json negative regulation of melanophore differentiation|downregulation of melanocyte differentiation|down regulation of melanocyte differentiation|inhibition of melanocyte differentiation|down-regulation of melanocyte differentiation http://purl.obolibrary.org/obo/GO_0045635 GO:0045636 biolink:BiologicalProcess positive regulation of melanocyte differentiation Any process that activates or increases the frequency, rate or extent of melanocyte differentiation. hp.json stimulation of melanocyte differentiation|up regulation of melanocyte differentiation|up-regulation of melanocyte differentiation|activation of melanocyte differentiation|upregulation of melanocyte differentiation|positive regulation of melanophore differentiation http://purl.obolibrary.org/obo/GO_0045636 RO:0015011 biolink:NamedThing has cross section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. hp.json http://purl.obolibrary.org/obo/RO_0015011 RO:0015012 biolink:NamedThing reciprocal of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. hp.json http://purl.obolibrary.org/obo/RO_0015012 HP:3000001 biolink:PhenotypicFeature obsolete Abnormal heart morphology hp.json http://purl.obolibrary.org/obo/HP_3000001 HP:3000002 biolink:PhenotypicFeature Abnormal inner ear epithelium morphology Any structural anomaly of an inner ear epithelium. UMLS:C4073211 hp.json http://purl.obolibrary.org/obo/HP_3000002 HP:3000003 biolink:PhenotypicFeature Abnormal mandibular ramus morphology An abnormality of a mandibular ramus. UMLS:C4073212 hp.json Abnormality of mandibular ramus http://purl.obolibrary.org/obo/HP_3000003 GO:0021654 biolink:BiologicalProcess rhombomere boundary formation The process that gives rise to a rhombomere boundary. This process pertains to the initial formation of a boundary delimiting a rhombomere. Rhombomeres are transverse segments of the developing rhombencephalon that are lineage restricted, express different genes from one another, and adopt different developmental fates. Rhombomeres are numbered in anterior to posterior order. hp.json http://purl.obolibrary.org/obo/GO_0021654 GO:0045648 biolink:BiologicalProcess positive regulation of erythrocyte differentiation Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. hp.json up regulation of erythrocyte differentiation|activation of erythrocyte differentiation|positive regulation of RBC differentiation|stimulation of erythrocyte differentiation|upregulation of erythrocyte differentiation|positive regulation of red blood cell differentiation|up-regulation of erythrocyte differentiation http://purl.obolibrary.org/obo/GO_0045648 GO:0045649 biolink:BiologicalProcess regulation of macrophage differentiation Any process that modulates the frequency, rate or extent of macrophage differentiation. hp.json http://purl.obolibrary.org/obo/GO_0045649 GO:0045646 biolink:BiologicalProcess regulation of erythrocyte differentiation Any process that modulates the frequency, rate or extent of erythrocyte differentiation. hp.json regulation of red blood cell differentiation|regulation of RBC differentiation http://purl.obolibrary.org/obo/GO_0045646 GO:0045647 biolink:BiologicalProcess negative regulation of erythrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation. hp.json negative regulation of red blood cell differentiation|negative regulation of RBC differentiation|down-regulation of erythrocyte differentiation|down regulation of erythrocyte differentiation|inhibition of erythrocyte differentiation|downregulation of erythrocyte differentiation http://purl.obolibrary.org/obo/GO_0045647 HP:3000008 biolink:PhenotypicFeature Abnormality of mylohyoid muscle An abnormality of a mylohyoid muscle. UMLS:C4073217 hp.json http://purl.obolibrary.org/obo/HP_3000008 HP:3000009 biolink:PhenotypicFeature Abnormality of nasalis muscle An abnormality of a nasalis muscle. UMLS:C4073218 hp.json http://purl.obolibrary.org/obo/HP_3000009 HP:3000004 biolink:PhenotypicFeature Abnormality of frontalis muscle belly An abnormality of a frontalis muscle belly. UMLS:C4073213 hp.json http://purl.obolibrary.org/obo/HP_3000004 HP:3000005 biolink:PhenotypicFeature Abnormality of masseter muscle An abnormality of a masseter muscle. UMLS:C4073214 hp.json http://purl.obolibrary.org/obo/HP_3000005 HP:3000006 biolink:PhenotypicFeature Abnormality of medial pterygoid muscle An abnormality of a medial pterygoid muscle. UMLS:C4073215 hp.json http://purl.obolibrary.org/obo/HP_3000006 HP:3000007 biolink:PhenotypicFeature Abnormality of mentalis muscle An abnormality of a mentalis muscle. UMLS:C4073216 hp.json http://purl.obolibrary.org/obo/HP_3000007 HP:3000011 biolink:PhenotypicFeature Abnormality of palatoglossus muscle An abnormality of a palatoglossus muscle. UMLS:C4073220 hp.json http://purl.obolibrary.org/obo/HP_3000011 HP:3000012 biolink:PhenotypicFeature Abnormality of palatopharyngeus muscle An abnormality of a palatopharyngeus muscle. UMLS:C4073221 hp.json http://purl.obolibrary.org/obo/HP_3000012 HP:3000013 biolink:PhenotypicFeature Abnormal platysma muscle morphology An abnormality of the platysma muscle. UMLS:C4073222 hp.json Abnormality of the platysma muscle|Abnormality of platysma http://purl.obolibrary.org/obo/HP_3000013 HP:3000014 biolink:PhenotypicFeature Abnormality of procerus muscle An abnormality of a procerus. UMLS:C4073223 hp.json http://purl.obolibrary.org/obo/HP_3000014 HP:3000010 biolink:PhenotypicFeature Abnormality of orbicularis oris muscle An abnormality of an orbicularis oris muscle. UMLS:C4073219 hp.json http://purl.obolibrary.org/obo/HP_3000010 GO:0006006 biolink:BiologicalProcess glucose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. hp.json cellular glucose metabolic process|glucose metabolism http://purl.obolibrary.org/obo/GO_0006006 GO:0021643 biolink:BiologicalProcess vagus nerve maturation A developmental process, independent of morphogenetic (shape) change, that is required for the vagus nerve to attain its fully functional state. This nerve is primarily sensory but also has visceromotor components. It originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components. It controls some motor functions such as speech. The sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis. hp.json CN X maturation http://purl.obolibrary.org/obo/GO_0021643 GO:0045655 biolink:BiologicalProcess regulation of monocyte differentiation Any process that modulates the frequency, rate or extent of monocyte differentiation. hp.json http://purl.obolibrary.org/obo/GO_0045655 GO:0045656 biolink:BiologicalProcess negative regulation of monocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation. hp.json down regulation of monocyte differentiation|inhibition of monocyte differentiation|down-regulation of monocyte differentiation|downregulation of monocyte differentiation http://purl.obolibrary.org/obo/GO_0045656 RO:0003001 biolink:NamedThing produced by a produced_by b iff some process that occurs_in b has_output a. RO:0003001 hp.json http://purl.obolibrary.org/obo/RO_0003001 ro-eco GO:0045653 biolink:BiologicalProcess negative regulation of megakaryocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation. hp.json down-regulation of megakaryocyte differentiation|down regulation of megakaryocyte differentiation|inhibition of megakaryocyte differentiation|downregulation of megakaryocyte differentiation http://purl.obolibrary.org/obo/GO_0045653 GO:0045654 biolink:BiologicalProcess positive regulation of megakaryocyte differentiation Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation. hp.json stimulation of megakaryocyte differentiation|upregulation of megakaryocyte differentiation|up-regulation of megakaryocyte differentiation|up regulation of megakaryocyte differentiation|activation of megakaryocyte differentiation http://purl.obolibrary.org/obo/GO_0045654 GO:0045651 biolink:BiologicalProcess positive regulation of macrophage differentiation Any process that activates or increases the frequency, rate or extent of macrophage differentiation. hp.json upregulation of macrophage differentiation|up regulation of macrophage differentiation|stimulation of macrophage differentiation|up-regulation of macrophage differentiation|activation of macrophage differentiation http://purl.obolibrary.org/obo/GO_0045651 GO:0045652 biolink:BiologicalProcess regulation of megakaryocyte differentiation Any process that modulates the frequency, rate or extent of megakaryocyte differentiation. hp.json http://purl.obolibrary.org/obo/GO_0045652 GO:0006000 biolink:BiologicalProcess fructose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. Wikipedia:Fructose hp.json fructose metabolism http://purl.obolibrary.org/obo/GO_0006000 RO:0003000 biolink:NamedThing produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. RO:0003000 hp.json http://purl.obolibrary.org/obo/RO_0003000 ro-eco GO:0045650 biolink:BiologicalProcess negative regulation of macrophage differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation. hp.json downregulation of macrophage differentiation|down regulation of macrophage differentiation|inhibition of macrophage differentiation|down-regulation of macrophage differentiation http://purl.obolibrary.org/obo/GO_0045650 GO:0045659 biolink:BiologicalProcess negative regulation of neutrophil differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of neutrophil differentiation. hp.json down-regulation of neutrophil differentiation|downregulation of neutrophil differentiation|down regulation of neutrophil differentiation|inhibition of neutrophil differentiation http://purl.obolibrary.org/obo/GO_0045659 GO:0045657 biolink:BiologicalProcess positive regulation of monocyte differentiation Any process that activates or increases the frequency, rate or extent of monocyte differentiation. hp.json upregulation of monocyte differentiation|up regulation of monocyte differentiation|stimulation of monocyte differentiation|up-regulation of monocyte differentiation|activation of monocyte differentiation http://purl.obolibrary.org/obo/GO_0045657 GO:0045658 biolink:BiologicalProcess regulation of neutrophil differentiation Any process that modulates the frequency, rate or extent of neutrophil differentiation. hp.json http://purl.obolibrary.org/obo/GO_0045658 HP:3000019 biolink:PhenotypicFeature Abnormal buccal mucosa morphology An abnormality of a buccal mucosa. UMLS:C4073228 hp.json Abnormality of buccal mucosa|Abnormality of cheek mucosa|Abnormality of inside lining of cheek http://purl.obolibrary.org/obo/HP_3000019 GO:0021644 biolink:BiologicalProcess vagus nerve morphogenesis The process in which the anatomical structure of the vagus nerve is generated and organized. This nerve is primarily sensory but also has visceromotor components. It originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components. It controls some motor functions such as speech. The sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis. hp.json CN X morphogenesis http://purl.obolibrary.org/obo/GO_0021644 GO:0021646 biolink:BiologicalProcess vagus nerve formation The process that gives rise to the vagus nerve. This process pertains to the initial formation of a structure from unspecified parts. This nerve is primarily sensory but also has visceromotor components. It originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components. It controls some motor functions such as speech. The sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis. hp.json CN X biosynthesis|CN X formation http://purl.obolibrary.org/obo/GO_0021646 HP:3000015 biolink:PhenotypicFeature Abnormality of risorius muscle An abnormality of a risorius muscle. UMLS:C4073224 hp.json http://purl.obolibrary.org/obo/HP_3000015 HP:3000016 biolink:PhenotypicFeature Abnormality of styloglossus muscle An abnormality of the styloglossus muscle. UMLS:C4073225 hp.json http://purl.obolibrary.org/obo/HP_3000016 HP:3000017 biolink:PhenotypicFeature Abnormality of temporalis muscle An abnormality of a temporalis muscle. UMLS:C4073226 hp.json http://purl.obolibrary.org/obo/HP_3000017 HP:3000018 biolink:PhenotypicFeature Abnormality of zygomaticus major muscle An abnormality of a zygomaticus major muscle. UMLS:C4073227 hp.json http://purl.obolibrary.org/obo/HP_3000018 HP:3000022 biolink:PhenotypicFeature Abnormality of cartilage of external ear An abnormality of a cartilage of external ear. UMLS:C4073231 hp.json http://purl.obolibrary.org/obo/HP_3000022 CHEBI:22299 biolink:ChemicalSubstance aldonate A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of an aldonic acid. hp.json aldonates|aldonate http://purl.obolibrary.org/obo/CHEBI_22299 3_STAR HP:3000023 biolink:PhenotypicFeature Abnormality of angular artery An abnormality of the angular artery, the terminal branch of the facial artery. UMLS:C4073232 hp.json http://purl.obolibrary.org/obo/HP_3000023 HP:3000024 biolink:PhenotypicFeature Abnormal facial artery morphology Any structural abnormality of a facial artery, one of the branches of the external carotid artery. UMLS:C4073233 hp.json Abnormality of facial artery http://purl.obolibrary.org/obo/HP_3000024 HP:3000025 biolink:PhenotypicFeature Abnormality of ciliary ganglion An abnormality of a ciliary ganglion. UMLS:C4073234 hp.json http://purl.obolibrary.org/obo/HP_3000025 HP:3000020 biolink:PhenotypicFeature Abnormality of zygomaticus minor muscle An abnormality of a zygomaticus minor muscle. UMLS:C4073229 hp.json http://purl.obolibrary.org/obo/HP_3000020 HP:3000021 biolink:PhenotypicFeature Abnormal buccal fat pad morphology An abnormality of a buccal fat pad. UMLS:C4073230 hp.json Abnormality of buccal fat pad http://purl.obolibrary.org/obo/HP_3000021 GO:0045666 biolink:BiologicalProcess positive regulation of neuron differentiation Any process that activates or increases the frequency, rate or extent of neuron differentiation. hp.json up-regulation of neuron differentiation|activation of neuron differentiation|upregulation of neuron differentiation|up regulation of neuron differentiation|stimulation of neuron differentiation http://purl.obolibrary.org/obo/GO_0045666 GO:0043005 biolink:CellularComponent neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. NIF_Subcellular:sao867568886 hp.json neuron protrusion|neurite|neuronal cell projection|nerve fiber|neuron process http://purl.obolibrary.org/obo/GO_0043005 goslim_pir GO:0006012 biolink:BiologicalProcess galactose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. Wikipedia:Galactose hp.json galactose metabolism http://purl.obolibrary.org/obo/GO_0006012 GO:0045664 biolink:BiologicalProcess regulation of neuron differentiation Any process that modulates the frequency, rate or extent of neuron differentiation. hp.json http://purl.obolibrary.org/obo/GO_0045664 GO:0045665 biolink:BiologicalProcess negative regulation of neuron differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. hp.json downregulation of neuron differentiation|down regulation of neuron differentiation|inhibition of neuron differentiation|down-regulation of neuron differentiation http://purl.obolibrary.org/obo/GO_0045665 GO:0045662 biolink:BiologicalProcess negative regulation of myoblast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. hp.json down regulation of myoblast differentiation|inhibition of myoblast differentiation|down-regulation of myoblast differentiation|downregulation of myoblast differentiation http://purl.obolibrary.org/obo/GO_0045662 GO:0045663 biolink:BiologicalProcess positive regulation of myoblast differentiation Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. hp.json upregulation of myoblast differentiation|stimulation of myoblast differentiation|up regulation of myoblast differentiation|activation of myoblast differentiation|up-regulation of myoblast differentiation http://purl.obolibrary.org/obo/GO_0045663 GO:0045660 biolink:BiologicalProcess positive regulation of neutrophil differentiation Any process that activates or increases the frequency, rate or extent of neutrophil differentiation. hp.json up regulation of neutrophil differentiation|stimulation of neutrophil differentiation|up-regulation of neutrophil differentiation|activation of neutrophil differentiation|upregulation of neutrophil differentiation http://purl.obolibrary.org/obo/GO_0045660 GO:0043001 biolink:BiologicalProcess Golgi to plasma membrane protein transport The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane. hp.json http://purl.obolibrary.org/obo/GO_0043001 GO:0045661 biolink:BiologicalProcess regulation of myoblast differentiation Any process that modulates the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. hp.json http://purl.obolibrary.org/obo/GO_0045661 GO:0043009 biolink:BiologicalProcess chordate embryonic development The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. hp.json http://purl.obolibrary.org/obo/GO_0043009 GO:0021635 biolink:BiologicalProcess trigeminal nerve maturation A developmental process, independent of morphogenetic (shape) change, that is required for the trigeminal nerve to attain its fully functional state. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae. hp.json CN V maturation http://purl.obolibrary.org/obo/GO_0021635 GO:0021636 biolink:BiologicalProcess trigeminal nerve morphogenesis The process in which the anatomical structure of the trigeminal nerve is generated and organized. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae. hp.json CN V morphogenesis http://purl.obolibrary.org/obo/GO_0021636 HP:3000026 biolink:PhenotypicFeature obsolete Abnormality of common carotid artery plus branches hp.json http://purl.obolibrary.org/obo/HP_3000026 HP:3000027 biolink:PhenotypicFeature Abnormality of buccinator muscle An abnormality of a buccinator muscle. UMLS:C4073236 hp.json http://purl.obolibrary.org/obo/HP_3000027 GO:0021638 biolink:BiologicalProcess trigeminal nerve formation The process that gives rise to the trigeminal nerve. This process pertains to the initial formation of a structure from unspecified parts. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae. hp.json CN V biosynthesis|CN V formation http://purl.obolibrary.org/obo/GO_0021638 HP:3000028 biolink:PhenotypicFeature Abnormality of depressor anguli oris muscle An abnormality of a depressor anguli oris muscle. UMLS:C4073237 hp.json http://purl.obolibrary.org/obo/HP_3000028 HP:3000029 biolink:PhenotypicFeature Abnormality of depressor labii inferioris An abnormality of a depressor labii inferioris. UMLS:C4073238 hp.json Abnormality of depressor labii inferioris muscle http://purl.obolibrary.org/obo/HP_3000029 HP:3000033 biolink:PhenotypicFeature Abnormal nasopharyngeal adenoid morphology Any abnormality of nasopharyngeal adenoids. UMLS:C4073241 hp.json Abnormality of nasopharyngeal adenoids|Abnormality of adenoids|Abnormality of nasopharyngeal tonsil|Abnormality of pharyngeal tonsil http://purl.obolibrary.org/obo/HP_3000033 HP:3000034 biolink:PhenotypicFeature Abnormality nasal septum cartilage morphology An abnormality of a cartilage of nasal septum. UMLS:C4073242 hp.json Malformation of cartilage of nasal septum|Deformity of cartilage of nasal septum|Abnormality of cartilage of nasal septum|Abnormality of cartilage of septum of nose|Anomaly of cartilage of nasal septum http://purl.obolibrary.org/obo/HP_3000034 GO:0045670 biolink:BiologicalProcess regulation of osteoclast differentiation Any process that modulates the frequency, rate or extent of osteoclast differentiation. hp.json http://purl.obolibrary.org/obo/GO_0045670 UBERON:0003409 biolink:AnatomicalEntity gland of tongue Any of the mucous, serous, or mixed glands that empty their secretions onto the surface of the tongue. EMAPA:25097 hp.json tongue gland|lingual gland http://purl.obolibrary.org/obo/UBERON_0003409 HP:3000035 biolink:PhenotypicFeature Abnormality of cervical plexus Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. UMLS:C4073243 hp.json http://purl.obolibrary.org/obo/HP_3000035 HP:3000036 biolink:PhenotypicFeature Abnormal head blood vessel morphology An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. UMLS:C4073244 hp.json Abnormality of head blood vessel|Abnormality of vasculature of head|Abnormality of blood vessel of head http://purl.obolibrary.org/obo/HP_3000036 GO:0033605 biolink:BiologicalProcess positive regulation of catecholamine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine. hp.json up-regulation of catecholamine secretion|up regulation of catecholamine secretion|activation of catecholamine secretion|stimulation of catecholamine secretion|upregulation of catecholamine secretion http://purl.obolibrary.org/obo/GO_0033605 UBERON:0003407 biolink:AnatomicalEntity cartilage of nasal septum A cartilage that is part of a nasal septum [Automatically generated definition]. FMA:59503|MA:0003138|EMAPA:25091 hp.json septal nasal cartilage|nasal septum cartilage|cartilago septal nasi http://purl.obolibrary.org/obo/UBERON_0003407 pheno_slim GO:0033604 biolink:BiologicalProcess negative regulation of catecholamine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine. hp.json down regulation of catecholamine secretion|inhibition of catecholamine secretion|downregulation of catecholamine secretion|down-regulation of catecholamine secretion http://purl.obolibrary.org/obo/GO_0033604 UBERON:0003408 biolink:AnatomicalEntity gland of digestive tract A gland that is part of a digestive tract [Automatically generated definition]. EMAPA:18815|MA:0003202 hp.json lower gastrointestinal tract gland|gut gland|gland of lower gastrointestinal tract|gland of digestive tract|digestive tract gland http://purl.obolibrary.org/obo/UBERON_0003408 HP:3000030 biolink:PhenotypicFeature Abnormal morphology of bony orbit of skull An abnormality of an orbit of skull. UMLS:C4073239 hp.json Abnormality of bones of the orbit of the skull|Abnormality of the orbital bones of skull|Abnormality of the bony eye socket|Abnormality of bony orbit of skull http://purl.obolibrary.org/obo/HP_3000030 GO:0033603 biolink:BiologicalProcess positive regulation of dopamine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine. hp.json upregulation of dopamine secretion|up regulation of dopamine secretion|stimulation of dopamine secretion|up-regulation of dopamine secretion|activation of dopamine secretion http://purl.obolibrary.org/obo/GO_0033603 GO:0033602 biolink:BiologicalProcess negative regulation of dopamine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine. hp.json down regulation of dopamine secretion|inhibition of dopamine secretion|down-regulation of dopamine secretion|downregulation of dopamine secretion http://purl.obolibrary.org/obo/GO_0033602 HP:3000031 biolink:PhenotypicFeature Abnormality of anterior ethmoidal artery An abnormality of an anterior ethmoidal artery. UMLS:C4073287 hp.json http://purl.obolibrary.org/obo/HP_3000031 GO:0021620 biolink:BiologicalProcess hypoglossal nerve formation The process that gives rise to the hypoglossal nerve. This process pertains to the initial formation of a structure from unspecified parts. This motor nerve innervates all the intrinsic and all but one of the extrinsic muscles of the tongue. hp.json CN XII biosynthesis|CN XII formation http://purl.obolibrary.org/obo/GO_0021620 GO:0008645 biolink:BiologicalProcess hexose transmembrane transport The process in which hexose is transported across a membrane. Hexoses are aldoses with a chain of six carbon atoms in the molecule. hp.json hexose transport|low-affinity hexose transport|high-affinity hexose transport|hexose membrane transport http://purl.obolibrary.org/obo/GO_0008645 HP:3000032 biolink:PhenotypicFeature Abnormality of central retinal artery An abnormality of a central retinal artery. UMLS:C4073240 hp.json http://purl.obolibrary.org/obo/HP_3000032 UBERON:0003406 biolink:AnatomicalEntity cartilage of respiratory system A cartilage element that is part of a respiratory system [Automatically generated definition]. EMAPA:18694|MA:0001818 hp.json respiratory system cartilage|apparatus respiratorius cartilage|cartilage of apparatus respiratorius http://purl.obolibrary.org/obo/UBERON_0003406 HP:0030374 biolink:PhenotypicFeature Decreased proportion of memory B cells A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). UMLS:C4072913 hp.json http://purl.obolibrary.org/obo/HP_0030374 GO:0008643 biolink:BiologicalProcess carbohydrate transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are a group of organic compounds based of the general formula Cx(H2O)y. hp.json sugar transport http://purl.obolibrary.org/obo/GO_0008643 goslim_yeast|goslim_pir HP:0030375 biolink:PhenotypicFeature Increased proportion of memory B cells An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). UMLS:C4072914 hp.json http://purl.obolibrary.org/obo/HP_0030375 HP:0030376 biolink:PhenotypicFeature Abnormal proportion of immature B cells A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). UMLS:C4072915 hp.json Abnormal proportion of CD19+/CD21low B cells http://purl.obolibrary.org/obo/HP_0030376 HP:0030377 biolink:PhenotypicFeature Increased proportion of immature B cells An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). UMLS:C4072916 hp.json Increased proportion of CD19+/CD21low B cells http://purl.obolibrary.org/obo/HP_0030377 GO:0043010 biolink:BiologicalProcess camera-type eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. hp.json http://purl.obolibrary.org/obo/GO_0043010 HP:0030370 biolink:PhenotypicFeature Abnormal proportion of naive B cells A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. UMLS:C4072909 hp.json http://purl.obolibrary.org/obo/HP_0030370 HP:0030371 biolink:PhenotypicFeature Increased proportion of naive B cells An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. UMLS:C4072910 hp.json http://purl.obolibrary.org/obo/HP_0030371 GO:0045671 biolink:BiologicalProcess negative regulation of osteoclast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. hp.json downregulation of osteoclast differentiation|down regulation of osteoclast differentiation|inhibition of osteoclast differentiation|down-regulation of osteoclast differentiation http://purl.obolibrary.org/obo/GO_0045671 HP:0030372 biolink:PhenotypicFeature Decreased proportion of naive B cells A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. UMLS:C4072911 hp.json http://purl.obolibrary.org/obo/HP_0030372 GO:0045672 biolink:BiologicalProcess positive regulation of osteoclast differentiation Any process that activates or increases the frequency, rate or extent of osteoclast differentiation. hp.json up-regulation of osteoclast differentiation|activation of osteoclast differentiation|upregulation of osteoclast differentiation|up regulation of osteoclast differentiation|stimulation of osteoclast differentiation http://purl.obolibrary.org/obo/GO_0045672 HP:0030373 biolink:PhenotypicFeature Abnormal proportion of memory B cells A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). UMLS:C4072912 hp.json http://purl.obolibrary.org/obo/HP_0030373 GO:0043011 biolink:BiologicalProcess myeloid dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. Wikipedia:Dendritic_cell hp.json http://purl.obolibrary.org/obo/GO_0043011 HP:0030378 biolink:PhenotypicFeature Decreased proportion of immature B cells A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). UMLS:C4072917 hp.json Decreased proportion of CD19+/CD21low B cells http://purl.obolibrary.org/obo/HP_0030378 HP:0030379 biolink:PhenotypicFeature Abnormal proportion of transitional B cells A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. UMLS:C4072918 hp.json Abnormal proportion of CD19+CD38+IgM+ cells http://purl.obolibrary.org/obo/HP_0030379 GO:0070633 biolink:BiologicalProcess transepithelial transport The directed movement of a substance from one side of an epithelium to the other. hp.json http://purl.obolibrary.org/obo/GO_0070633 UBERON:0003414 biolink:AnatomicalEntity mesenchyme of mandible Mesenchyme that is part of a developing mandible [Automatically generated definition]. EMAPA:17912 hp.json mesenchyme of ventral mandibular arch bone|mesenchyme of bone organ of lower jaw|bone of ventral mandibular arch mesenchyme|mesenchyme of mandibulla|mandible mesenchyme|mandibulla mesenchyme|ventral mandibular arch bone mesenchyme|ventral mandibular arch bone organ mesenchyme|mesenchyme of bone of ventral mandibular arch|mesenchyme of lower jaw bone organ|bone organ of lower jaw mesenchyme|lower jaw bone mesenchyme|lower jaw bone organ mesenchyme|mesenchyme of lower jaw bone|mesenchyme of bone organ of ventral mandibular arch|bone of lower jaw mesenchyme|mesenchyme of ventral mandibular arch bone organ|mesenchyme of bone of lower jaw|bone organ of ventral mandibular arch mesenchyme http://purl.obolibrary.org/obo/UBERON_0003414 UBERON:0003415 biolink:AnatomicalEntity mesenchyme of nasal septum Mesenchyme that is part of a developing nasal septum [Automatically generated definition]. EMAPA:18443|FMA:312700 hp.json nasal septum mesenchyme http://purl.obolibrary.org/obo/UBERON_0003415 GO:0070634 biolink:BiologicalProcess transepithelial ammonium transport The directed movement of ammonium ions from one side of an epithelium to the other. hp.json http://purl.obolibrary.org/obo/GO_0070634 UBERON:0003412 biolink:AnatomicalEntity pelvic appendage bud mesenchyme Mesenchyme that is part of a pelvic appendage bud. ZFA:0001386|EMAPA:16781|TAO:0001386|EHDAA2:0001035 hp.json lower limb bud mesenchyme|mesoderm pelvic fin bud|leg mesenchyme|pelvic fin bud mesenchyme|hindlimb bud mesenchyme http://purl.obolibrary.org/obo/UBERON_0003412 UBERON:0003413 biolink:AnatomicalEntity pectoral appendage bud mesenchyme Mesenchyme that is part of a pectoral appendage bud. TAO:0000789|EHDAA2:0002135|EMAPA:16408|ZFA:0000789|EHDAA:1703 hp.json arm mesenchyme|mesoderm pectoral fin bud|forelimb bud mesenchyme|pectoral fin bud mesenchyme|upper limb bud mesenchyme|wing mesenchyme http://purl.obolibrary.org/obo/UBERON_0003413 HP:3000037 biolink:PhenotypicFeature Abnormal neck blood vessel morphology An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. UMLS:C4073245 hp.json Abnormality of neck blood vessel|Abnormality of the cervical blood vessels|Abnormality of the cervical vasculature|Abnormality of the vasculature of the neck|Abnormality of blood vessel of neck http://purl.obolibrary.org/obo/HP_3000037 GO:0021626 biolink:BiologicalProcess central nervous system maturation A developmental process, independent of morphogenetic (shape) change, that is required for the central nervous system to attain its fully functional state. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. hp.json http://purl.obolibrary.org/obo/GO_0021626 HP:3000038 biolink:PhenotypicFeature Abnormal cricoid cartilage morphology Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. UMLS:C4073246 hp.json Abnormality of cricoid cartilage http://purl.obolibrary.org/obo/HP_3000038 HP:3000039 biolink:PhenotypicFeature Abnormality of dorsal nasal artery An abnormality of a dorsal nasal artery. UMLS:C4073247 hp.json http://purl.obolibrary.org/obo/HP_3000039 HP:3000044 biolink:PhenotypicFeature Abnormality of frontal process of maxilla An abnormality of a frontal process of the maxilla bone. UMLS:C4073252 hp.json http://purl.obolibrary.org/obo/HP_3000044 HP:3000045 biolink:PhenotypicFeature Abnormality of genioglossus muscle An abnormality of a genioglossus muscle. UMLS:C4073253 hp.json http://purl.obolibrary.org/obo/HP_3000045 HP:3000046 biolink:PhenotypicFeature Abnormal geniohyoid muscle morphology An abnormality of a geniohyoid muscle. UMLS:C4073254 hp.json http://purl.obolibrary.org/obo/HP_3000046 HP:0030380 biolink:PhenotypicFeature Decreased proportion of transitional B cells A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. UMLS:C4072919 hp.json Decreased proportion of CD19+CD38+IgM+ cells http://purl.obolibrary.org/obo/HP_0030380 HP:3000047 biolink:PhenotypicFeature Abnormal glossopharyngeal nerve morphology Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX). UMLS:C4073255 hp.json Abnormality of glossopharyngeal nerve http://purl.obolibrary.org/obo/HP_3000047 HP:3000040 biolink:PhenotypicFeature Abnormality of ethmoid sinus An abnormality of an ethmoid sinus. UMLS:C4073248 hp.json Abnormality of ethmoidal air cells http://purl.obolibrary.org/obo/HP_3000040 GO:0055007 biolink:BiologicalProcess cardiac muscle cell differentiation The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. hp.json cardiomyocyte differentiation|heart muscle cell differentiation http://purl.obolibrary.org/obo/GO_0055007 HP:3000041 biolink:PhenotypicFeature Abnormality of external carotid artery An abnormality of an external carotid artery. UMLS:C4073249 hp.json Disorder of carotid artery|Abnormality of carotid artery http://purl.obolibrary.org/obo/HP_3000041 GO:0055008 biolink:BiologicalProcess cardiac muscle tissue morphogenesis The process in which the anatomical structures of cardiac muscle tissue are generated and organized. hp.json myocardium morphogenesis|heart muscle morphogenesis http://purl.obolibrary.org/obo/GO_0055008 HP:3000042 biolink:PhenotypicFeature Abnormal jugular vein morphology Any structural abnormality of a jugular vein. UMLS:C4073250 hp.json Abnormality of jugular vein http://purl.obolibrary.org/obo/HP_3000042 GO:0055009 biolink:BiologicalProcess atrial cardiac muscle tissue morphogenesis The process in which the anatomical structure of cardiac atrium muscle is generated and organized. hp.json cardiac atrium muscle morphogenesis|atrial heart muscle morphogenesis|atrial myocardium morphogenesis http://purl.obolibrary.org/obo/GO_0055009 HP:3000043 biolink:PhenotypicFeature Abnormal facial vein morphology An abnormality of a facial vein. UMLS:C4073251 hp.json Abnormality of facial vein|Abnormal vein of face http://purl.obolibrary.org/obo/HP_3000043 GO:0043025 biolink:CellularComponent neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. NIF_Subcellular:sao1044911821|Wikipedia:Soma_(biology) hp.json neuronal cell soma|neuron cell body http://purl.obolibrary.org/obo/GO_0043025 goslim_pir HP:0030385 biolink:PhenotypicFeature Increased proportion of marginal zone B cells An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. UMLS:C4072923 hp.json http://purl.obolibrary.org/obo/HP_0030385 HP:0030386 biolink:PhenotypicFeature Abnormal proportion of class-switched memory B cells A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. UMLS:C4072924 hp.json Abnormal proportion of CD19+CD27+IgD- cells http://purl.obolibrary.org/obo/HP_0030386 GO:0045686 biolink:BiologicalProcess negative regulation of glial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of glia cell differentiation. hp.json down regulation of glial cell differentiation|inhibition of glial cell differentiation|down-regulation of glial cell differentiation|negative regulation of neuroglia differentiation|downregulation of glial cell differentiation|negative regulation of glia cell differentiation http://purl.obolibrary.org/obo/GO_0045686 HP:0030387 biolink:PhenotypicFeature Increased proportion of class-switched memory B cells An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. UMLS:C4073288 hp.json Increased proportion of CD19+CD27+IgD- cells http://purl.obolibrary.org/obo/HP_0030387 HP:0030388 biolink:PhenotypicFeature Decreased proportion of class-switched memory B cells A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. UMLS:C4072925 hp.json Decreased proportion of CD19+CD27+IgD- cells http://purl.obolibrary.org/obo/HP_0030388 GO:0008652 biolink:BiologicalProcess cellular amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents. Wikipedia:Amino_acid_synthesis hp.json cellular amino acid synthesis|cellular amino acid biosynthesis|cellular amino acid formation|cellular amino acid anabolism|amino acid biosynthetic process http://purl.obolibrary.org/obo/GO_0008652 GO:0045687 biolink:BiologicalProcess positive regulation of glial cell differentiation Any process that activates or increases the frequency, rate or extent of glia cell differentiation. hp.json upregulation of glial cell differentiation|positive regulation of neuroglia differentiation|up regulation of glial cell differentiation|stimulation of glial cell differentiation|positive regulation of glia cell differentiation|activation of glial cell differentiation|up-regulation of glial cell differentiation http://purl.obolibrary.org/obo/GO_0045687 GO:0043021 biolink:MolecularActivity ribonucleoprotein complex binding Binding to a complex of RNA and protein. hp.json protein-RNA complex binding|RNP binding|ribonucleoprotein binding http://purl.obolibrary.org/obo/GO_0043021 goslim_pir GO:0045684 biolink:BiologicalProcess positive regulation of epidermis development Any process that activates or increases the frequency, rate or extent of epidermis development. hp.json up regulation of epidermis development|positive regulation of epidermal development|activation of epidermis development|stimulation of epidermis development|upregulation of epidermis development|positive regulation of hypodermis development|up-regulation of epidermis development http://purl.obolibrary.org/obo/GO_0045684 HP:0030381 biolink:PhenotypicFeature Increased proportion of transitional B cells An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. UMLS:C4072920 hp.json Increased proportion of CD19+CD38+IgM+ cells http://purl.obolibrary.org/obo/HP_0030381 GO:0045685 biolink:BiologicalProcess regulation of glial cell differentiation Any process that modulates the frequency, rate or extent of glia cell differentiation. hp.json regulation of neuroglia differentiation|regulation of glia cell differentiation http://purl.obolibrary.org/obo/GO_0045685 GO:0045682 biolink:BiologicalProcess regulation of epidermis development Any process that modulates the frequency, rate or extent of epidermis development. hp.json regulation of hypodermis development|regulation of epidermal development http://purl.obolibrary.org/obo/GO_0045682 HP:0030383 biolink:PhenotypicFeature Abnormal proportion of marginal zone B cells A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. UMLS:C4072921 hp.json http://purl.obolibrary.org/obo/HP_0030383 GO:0043022 biolink:MolecularActivity ribosome binding Binding to a ribosome. hp.json ribosome receptor activity http://purl.obolibrary.org/obo/GO_0043022 GO:0045683 biolink:BiologicalProcess negative regulation of epidermis development Any process that stops, prevents, or reduces the frequency, rate or extent of epidermis development. hp.json negative regulation of epidermal development|negative regulation of hypodermis development|down-regulation of epidermis development|down regulation of epidermis development|inhibition of epidermis development|downregulation of epidermis development http://purl.obolibrary.org/obo/GO_0045683 HP:0030384 biolink:PhenotypicFeature Decreased proportion of marginal zone B cells A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. UMLS:C4072922 hp.json http://purl.obolibrary.org/obo/HP_0030384 GO:0021619 biolink:BiologicalProcess hypoglossal nerve maturation A developmental process, independent of morphogenetic (shape) change, that is required for the hypoglossal nerve to attain its fully functional state. This motor nerve innervates all the intrinsic and all but one of the extrinsic muscles of the tongue. hp.json CN XII maturation http://purl.obolibrary.org/obo/GO_0021619 HP:0030389 biolink:PhenotypicFeature Abnormal circulating thromboxane concentration Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. UMLS:C4072926 hp.json http://purl.obolibrary.org/obo/HP_0030389 GO:0043029 biolink:BiologicalProcess T cell homeostasis The process of regulating the proliferation and elimination of T cells such that the total number of T cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. hp.json T-cell homeostasis|T lymphocyte homeostasis|T-lymphocyte homeostasis http://purl.obolibrary.org/obo/GO_0043029 UBERON:0003403 biolink:AnatomicalEntity skin of forearm A zone of skin that is part of a lower arm [Automatically generated definition]. MA:0000602|FMA:38265|EMAPA:18056 hp.json forearm skin|skin of antebrachial region|lower arm skin|lower segment of arm skin|skin of zeugopod of arm|skin of lower arm|skin of lower segment of arm http://purl.obolibrary.org/obo/UBERON_0003403 GO:0055003 biolink:BiologicalProcess cardiac myofibril assembly The process whose specific outcome is the progression of the cardiac myofibril over time, from its formation to the mature structure. A cardiac myofibril is a myofibril specific to cardiac muscle cells. hp.json cardiac myofibril morphogenesis|heart myofibril assembly|cardiac myofibril development http://purl.obolibrary.org/obo/GO_0055003 GO:0021614 biolink:BiologicalProcess glossopharyngeal nerve maturation A developmental process, independent of morphogenetic (shape) change, that is required for the glossopharyngeal nerve to attain its fully functional state. Various sensory and motor branches of the glossopharyngeal nerve supply nerve connections to the pharynx and back of the tongue. The branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion. hp.json CN IX maturation http://purl.obolibrary.org/obo/GO_0021614 GO:0055006 biolink:BiologicalProcess cardiac cell development The process whose specific outcome is the progression of a cardiac cell over time, from its formation to the mature state. A cardiac cell is a cell that will form part of the cardiac organ of an individual. hp.json cardiocyte development|heart cell development http://purl.obolibrary.org/obo/GO_0055006 HP:3000048 biolink:PhenotypicFeature Abnormal great auricular nerve morphology Any structural anomaly of a great auricular nerve. UMLS:C4073256 hp.json http://purl.obolibrary.org/obo/HP_3000048 GO:0021615 biolink:BiologicalProcess glossopharyngeal nerve morphogenesis The process in which the anatomical structure of the glossopharyngeal nerve is generated and organized. Various sensory and motor branches of the glossopharyngeal nerve supply nerve connections to the pharynx and back of the tongue. The branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion. hp.json CN IX morphogenesis http://purl.obolibrary.org/obo/GO_0021615 HP:3000049 biolink:PhenotypicFeature Abnormal greater palatine artery morphology An abnormality of a greater palatine artery. UMLS:C4073257 hp.json Abnormality of greater palatine artery http://purl.obolibrary.org/obo/HP_3000049 GO:0021616 biolink:BiologicalProcess glossopharyngeal nerve formation The process that gives rise to the glossopharyngeal nerve. This process pertains to the initial formation of a structure from unspecified parts. Various sensory and motor branches of the glossopharyngeal nerve supply nerve connections to the pharynx and back of the tongue. The branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion. hp.json CN IX biosynthesis|CN IX formation http://purl.obolibrary.org/obo/GO_0021616 GO:0055001 biolink:BiologicalProcess muscle cell development The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. hp.json myofibre development|muscle fiber development|myofiber development|muscle fibre development http://purl.obolibrary.org/obo/GO_0055001 GO:0021618 biolink:BiologicalProcess hypoglossal nerve morphogenesis The process in which the anatomical structure of the hypoglossal nerve is generated and organized. This motor nerve innervates all the intrinsic and all but one of the extrinsic muscles of the tongue. hp.json CN XII morphogenesis http://purl.obolibrary.org/obo/GO_0021618 GO:0055002 biolink:BiologicalProcess striated muscle cell development The process whose specific outcome is the progression of a striated muscle cell over time, from its formation to the mature structure. Striated muscle cells contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. hp.json http://purl.obolibrary.org/obo/GO_0055002 HP:3000055 biolink:PhenotypicFeature Abnormality of inferior alveolar nerve An abnormality of an inferior alveolar nerve. UMLS:C4073263 hp.json http://purl.obolibrary.org/obo/HP_3000055 CHEBI:48873 biolink:ChemicalSubstance cholinergic antagonist Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists. hp.json anticholinergic agents|agentes anticolinergicos|acetylcholine antagonists|agente anticolinergico|Anticholinergika|agent anticholinergique|acetylcholine receptor antagonist|Anticholinergikum|anticholinergiques|cholinergic-blocking agents|anticholinergics|anticolinergicos http://purl.obolibrary.org/obo/CHEBI_48873 3_STAR HP:3000056 biolink:PhenotypicFeature Abnormality of artery of lower lip An abnormality of an artery of lower lip. UMLS:C4073264 hp.json Abnormality of the inferior labial artery http://purl.obolibrary.org/obo/HP_3000056 HP:0030390 biolink:PhenotypicFeature Reduced circulating leukotriene C4 concentration An abnormally decreased concentration of leukotriene C4 in the blood circulation. UMLS:C4072927 hp.json http://purl.obolibrary.org/obo/HP_0030390 GO:0043030 biolink:BiologicalProcess regulation of macrophage activation Any process that modulates the frequency or rate of macrophage activation. hp.json regulation of macrophage polarization http://purl.obolibrary.org/obo/GO_0043030 HP:3000057 biolink:PhenotypicFeature Abnormality of inferior oblique extraocular muscle An abnormality of an inferior oblique extraocular muscle. UMLS:C4073265 hp.json Abnormality of the inferior oblique muscle http://purl.obolibrary.org/obo/HP_3000057 HP:3000058 biolink:PhenotypicFeature Abnormality of inferior rectus extraocular muscle An abnormality of an inferior rectus extraocular muscle. UMLS:C4073266 hp.json http://purl.obolibrary.org/obo/HP_3000058 HP:0030391 biolink:PhenotypicFeature Spoken word recognition deficit Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. UMLS:C4072928 hp.json http://purl.obolibrary.org/obo/HP_0030391 HP:3000051 biolink:PhenotypicFeature Abnormal hyoglossus muscle morphology An abnormality of a hyoglossus muscle. UMLS:C4073259 hp.json Abnormality of hyoglossus muscle http://purl.obolibrary.org/obo/HP_3000051 GO:0055018 biolink:BiologicalProcess regulation of cardiac muscle fiber development Any process that modulates the frequency, rate or extent of cardiac muscle fiber development. hp.json regulation of cardiac muscle fibre development|regulation of heart muscle fiber development http://purl.obolibrary.org/obo/GO_0055018 GO:0055019 biolink:BiologicalProcess negative regulation of cardiac muscle fiber development Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle fiber development. hp.json inhibition of cardiac muscle fiber development|negative regulation of heart muscle fiber development|down-regulation of cardiac muscle fiber development|downregulation of cardiac muscle fiber development|negative regulation of cardiac muscle fibre development|down regulation of cardiac muscle fiber development http://purl.obolibrary.org/obo/GO_0055019 HP:3000052 biolink:PhenotypicFeature Abnormal hyoid bone morphology Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra. UMLS:C4073260 hp.json Abnormality of hyoid bone http://purl.obolibrary.org/obo/HP_3000052 HP:3000053 biolink:PhenotypicFeature Abnormal hypopharynx morphology A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus. UMLS:C4073261 hp.json Abnormality of lower pharynx|Abnormality of hypopharynx http://purl.obolibrary.org/obo/HP_3000053 HP:3000054 biolink:PhenotypicFeature Abnormal inferior alveolar artery morphology An abnormality of an inferior alveolar artery. UMLS:C4073262 hp.json http://purl.obolibrary.org/obo/HP_3000054 HP:0030396 biolink:PhenotypicFeature Abnormal platelet granule secretion Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. UMLS:C4072929 hp.json http://purl.obolibrary.org/obo/HP_0030396 HP:0030397 biolink:PhenotypicFeature Abnormal platelet dense granule secretion Abnormal release of dense granules from platelets. UMLS:C4072930 hp.json http://purl.obolibrary.org/obo/HP_0030397 HP:0030398 biolink:PhenotypicFeature Abnormal platelet ATP dense granule secretion Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP). UMLS:C4072931 hp.json http://purl.obolibrary.org/obo/HP_0030398 HP:3000050 biolink:PhenotypicFeature Abnormal odontoid tissue morphology An abnormality of an odontoid tissue. UMLS:C4073258 hp.json Abnormality of odontoid tissue|Abnormality of hard tissues of teeth|Abnormality of tooth hard tissue http://purl.obolibrary.org/obo/HP_3000050 HP:0030399 biolink:PhenotypicFeature Abnormal platelet alpha granule secretion Abnormal release of alpha granule contents from platelets. UMLS:C4072932 hp.json http://purl.obolibrary.org/obo/HP_0030399 GO:0043032 biolink:BiologicalProcess positive regulation of macrophage activation Any process that stimulates, induces or increases the rate of macrophage activation. hp.json up-regulation of macrophage activation|up regulation of macrophage activation|activation of macrophage activation|positive regulation of macrophage polarization|stimulation of macrophage activation|upregulation of macrophage activation http://purl.obolibrary.org/obo/GO_0043032 HP:0030392 biolink:PhenotypicFeature Choroid plexus carcinoma Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. MSH:C562943|UMLS:C0431109|SNOMEDCT_US:88252006 hp.json http://purl.obolibrary.org/obo/HP_0030392 HP:0030393 biolink:PhenotypicFeature Endolymphatic sac tumor A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin). UMLS:C2348239|SNOMEDCT_US:699817008 hp.json Heffner tumor|Endolymphatic sac tumour|Aggressive papillary middle ear tumor|Aggressive papillary middle ear tumour|Low-grade adenocarcinoma of endolymphatic sac origin|Heffner tumour http://purl.obolibrary.org/obo/HP_0030393 GO:0043031 biolink:BiologicalProcess negative regulation of macrophage activation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation. hp.json inhibition of macrophage activation|downregulation of macrophage activation|negative regulation of macrophage polarization|down-regulation of macrophage activation|down regulation of macrophage activation http://purl.obolibrary.org/obo/GO_0043031 HP:0030394 biolink:PhenotypicFeature Fallopian tube carcinoma Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk. SNOMEDCT_US:276870001|MSH:D005185|UMLS:C0238122 hp.json http://purl.obolibrary.org/obo/HP_0030394 CHEBI:36885 biolink:ChemicalSubstance 20-oxo steroid An oxo steroid carrying an oxo group at position 20. hp.json 20-oxo steroids http://purl.obolibrary.org/obo/CHEBI_36885 3_STAR GO:0021608 biolink:BiologicalProcess accessory nerve formation The process that gives rise to the accessory nerve. This process pertains to the initial formation of a structure from unspecified parts. The spinal branch of this motor nerve innervates the trapezius and the sternocleidomastoid muscles. The cranial branch joins the vagus nerve and innervates the same targets as the vagus nerve. hp.json CN XI formation|CN XI biosynthesis http://purl.obolibrary.org/obo/GO_0021608 CHEBI:36887 biolink:ChemicalSubstance 18-oxo steroid hp.json 18-oxo steroids http://purl.obolibrary.org/obo/CHEBI_36887 3_STAR GO:0021602 biolink:BiologicalProcess cranial nerve morphogenesis The process in which the anatomical structure of the cranial nerves are generated and organized. The cranial nerves are composed of twelve pairs of nerves that emanate from the nervous tissue of the hindbrain. These nerves are sensory, motor, or mixed in nature, and provide the motor and general sensory innervation of the head, neck and viscera. They mediate vision, hearing, olfaction and taste and carry the parasympathetic innervation of the autonomic ganglia that control visceral functions. hp.json http://purl.obolibrary.org/obo/GO_0021602 GO:0055017 biolink:BiologicalProcess cardiac muscle tissue growth The increase in size or mass of a cardiac muscle, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another. hp.json heart muscle growth http://purl.obolibrary.org/obo/GO_0055017 GO:0021603 biolink:BiologicalProcess cranial nerve formation The process that gives rise to the cranial nerves. This process pertains to the initial formation of a structure from unspecified parts. The cranial nerves are composed of twelve pairs of nerves that emanate from the nervous tissue of the hindbrain. These nerves are sensory, motor, or mixed in nature, and provide the motor and general sensory innervation of the head, neck and viscera. They mediate vision, hearing, olfaction and taste and carry the parasympathetic innervation of the autonomic ganglia that control visceral functions. hp.json http://purl.obolibrary.org/obo/GO_0021603 GO:0055010 biolink:BiologicalProcess ventricular cardiac muscle tissue morphogenesis The process in which the anatomical structures of cardiac ventricle muscle is generated and organized. hp.json cardiac ventricle muscle morphogenesis|ventricular heart muscle morphogenesis http://purl.obolibrary.org/obo/GO_0055010 HP:3000059 biolink:PhenotypicFeature Abnormal inferior thyroid vein morphology An abnormality of an inferior thyroid vein. UMLS:C4073267 hp.json Abnormality of inferior thyroid vein http://purl.obolibrary.org/obo/HP_3000059 GO:0021605 biolink:BiologicalProcess cranial nerve maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cranial nerve to attain its fully functional state. The cranial nerves are composed of twelve pairs of nerves that emanate from the nervous tissue of the hindbrain. These nerves are sensory, motor, or mixed in nature, and provide the motor and general sensory innervation of the head, neck and viscera. They mediate vision, hearing, olfaction and taste and carry the parasympathetic innervation of the autonomic ganglia that control visceral functions. hp.json http://purl.obolibrary.org/obo/GO_0021605 GO:0021606 biolink:BiologicalProcess accessory nerve maturation A developmental process, independent of morphogenetic (shape) change, that is required for the accessory nerve to attain its fully functional state. The spinal branch of this motor nerve innervates the trapezius and the sternocleidomastoid muscles. The cranial branch joins the vagus nerve and innervates the same targets as the vagus nerve. hp.json CN XI maturation|spinal accessory nerve maturation http://purl.obolibrary.org/obo/GO_0021606 GO:0021607 biolink:BiologicalProcess accessory nerve morphogenesis The process in which the anatomical structure of the accessory nerve is generated and organized. The spinal branch of this motor nerve innervates the trapezius and the sternocleidomastoid muscles. The cranial branch joins the vagus nerve and innervates the same targets as the vagus nerve. hp.json CN XI morphogenesis http://purl.obolibrary.org/obo/GO_0021607 GO:0055013 biolink:BiologicalProcess cardiac muscle cell development The process whose specific outcome is the progression of a cardiac muscle cell over time, from its formation to the mature state. hp.json cardiac muscle fibre development|heart muscle cell development|cardiac muscle fiber development|heart muscle fiber development|cardiomyocyte cell development http://purl.obolibrary.org/obo/GO_0055013 HP:3000066 biolink:PhenotypicFeature Abnormal lacrimal sac morphology An abnormality of a lacrimal sac. UMLS:C4073273 hp.json Abnormality of lacrimal sac http://purl.obolibrary.org/obo/HP_3000066 HP:3000067 biolink:PhenotypicFeature Abnormal lateral cricoarytenoid muscle morphology Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway. UMLS:C4073274 hp.json Abnormal anterior cricoarytenoid muscle morphology|Abnormality of lateral cricoarytenoid muscle|Abnormality of lateral crico-arytenoid http://purl.obolibrary.org/obo/HP_3000067 HP:3000068 biolink:PhenotypicFeature Abnormality of lateral pterygoid muscle An abnormality of a lateral pterygoid muscle. UMLS:C4073275 hp.json http://purl.obolibrary.org/obo/HP_3000068 HP:3000069 biolink:PhenotypicFeature Abnormality of lateral rectus extra-ocular muscle An abnormality of a lateral rectus extra-ocular muscle. UMLS:C4073276 hp.json http://purl.obolibrary.org/obo/HP_3000069 HP:3000062 biolink:PhenotypicFeature Abnormal internal carotid artery morphology An abnormality of an internal carotid artery. UMLS:C1860488 hp.json Abnormality of internal carotid artery http://purl.obolibrary.org/obo/HP_3000062 HP:3000063 biolink:PhenotypicFeature Abnormality of internal jugular vein An abnormality of an internal jugular vein. UMLS:C4073270 hp.json http://purl.obolibrary.org/obo/HP_3000063 HP:3000064 biolink:PhenotypicFeature Abnormality of intrinsic muscle of tongue An abnormality of an intrinsic muscle of tongue. UMLS:C4073271 hp.json Abnormality of intrinsic lingual muscle http://purl.obolibrary.org/obo/HP_3000064 HP:3000065 biolink:PhenotypicFeature Abnormal lacrimal artery morphology An abnormality of a lacrimal artery. UMLS:C4073272 hp.json Abnormality of lacrimal artery http://purl.obolibrary.org/obo/HP_3000065 HP:3000060 biolink:PhenotypicFeature Abnormal infraorbital artery morphology An abnormality of an infraorbital artery. UMLS:C4073268 hp.json Abnormality of infraorbital artery http://purl.obolibrary.org/obo/HP_3000060 HP:3000061 biolink:PhenotypicFeature Abnormality of infra-orbital nerve A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal. UMLS:C4073269 hp.json Abnormality of the infraorbital nerve http://purl.obolibrary.org/obo/HP_3000061 GO:0043043 biolink:BiologicalProcess peptide biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. hp.json peptide synthesis|peptide formation|peptide biosynthesis|peptide anabolism http://purl.obolibrary.org/obo/GO_0043043 GO:0055020 biolink:BiologicalProcess positive regulation of cardiac muscle fiber development Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle fiber development. hp.json up regulation of cardiac muscle fiber development|stimulation of cardiac muscle fiber development|up-regulation of cardiac muscle fiber development|activation of cardiac muscle fiber development|positive regulation of cardiac muscle fibre development|positive regulation of heart muscle fiber development|upregulation of cardiac muscle fiber development http://purl.obolibrary.org/obo/GO_0055020 GO:0055025 biolink:BiologicalProcess positive regulation of cardiac muscle tissue development Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development. hp.json up regulation of cardiac muscle development|stimulation of cardiac muscle development|up-regulation of cardiac muscle development|activation of cardiac muscle development|positive regulation of heart muscle development|upregulation of cardiac muscle development http://purl.obolibrary.org/obo/GO_0055025 GO:0055026 biolink:BiologicalProcess negative regulation of cardiac muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development. hp.json downregulation of cardiac muscle development|negative regulation of heart muscle development|down regulation of cardiac muscle development|inhibition of cardiac muscle development|down-regulation of cardiac muscle development http://purl.obolibrary.org/obo/GO_0055026 GO:0055021 biolink:BiologicalProcess regulation of cardiac muscle tissue growth Any process that modulates the frequency, rate or extent of cardiac muscle growth. hp.json http://purl.obolibrary.org/obo/GO_0055021 GO:0055022 biolink:BiologicalProcess negative regulation of cardiac muscle tissue growth Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle growth. hp.json down-regulation of cardiac muscle growth|down regulation of cardiac muscle growth|inhibition of cardiac muscle growth|downregulation of cardiac muscle growth|negative regulation of heart muscle growth http://purl.obolibrary.org/obo/GO_0055022 GO:0055023 biolink:BiologicalProcess positive regulation of cardiac muscle tissue growth Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle growth. hp.json activation of cardiac muscle growth|stimulation of cardiac muscle growth|upregulation of cardiac muscle growth|positive regulation of heart muscle growth|up-regulation of cardiac muscle growth|up regulation of cardiac muscle growth http://purl.obolibrary.org/obo/GO_0055023 GO:0055024 biolink:BiologicalProcess regulation of cardiac muscle tissue development Any process that modulates the frequency, rate or extent of cardiac muscle tissue development. hp.json regulation of heart muscle development http://purl.obolibrary.org/obo/GO_0055024 HP:3000077 biolink:PhenotypicFeature Abnormal mandible condylar process morphology An abnormality of a mandible condylar process. UMLS:C4073284 hp.json Abnormality of mandible condylar process http://purl.obolibrary.org/obo/HP_3000077 HP:3000078 biolink:PhenotypicFeature Abnormal mandible coronoid process morphology An abnormality of a mandible coronoid process. UMLS:C4073285 hp.json Abnormality of mandible coronoid process http://purl.obolibrary.org/obo/HP_3000078 HP:3000079 biolink:PhenotypicFeature Abnormal mandibular symphysis morphology A structural abnormality of a mandibular symphysis. UMLS:C4073286 hp.json Abnormality of mandible symphysis http://purl.obolibrary.org/obo/HP_3000079 HP:3000073 biolink:PhenotypicFeature Abnormality of levator veli palatini muscle An abnormality of a levator veli palatini. UMLS:C4073280 hp.json http://purl.obolibrary.org/obo/HP_3000073 HP:3000074 biolink:PhenotypicFeature Abnormal lingual artery morphology Any structural abnormality of a lingual artery. UMLS:C4073281 hp.json Abnormality of lingual artery http://purl.obolibrary.org/obo/HP_3000074 HP:3000075 biolink:PhenotypicFeature Abnormal lingual nerve morphology Any structural anomaly of a lingual nerve. UMLS:C4073282 hp.json Abnormality of lingual nerve http://purl.obolibrary.org/obo/HP_3000075 HP:3000076 biolink:PhenotypicFeature Abnormality of lingual tonsil An abnormality of a lingual tonsil. UMLS:C4073283 hp.json http://purl.obolibrary.org/obo/HP_3000076 HP:0030330 biolink:PhenotypicFeature Multinucleated giant chondrocytes in epiphyseal cartilage The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. UMLS:C4022506 hp.json http://purl.obolibrary.org/obo/HP_0030330 HP:0032993 biolink:PhenotypicFeature Abnormal pulmonary fissure count A deviation from the normal number of pulmonary fissures. hp.json http://purl.obolibrary.org/obo/HP_0032993 HP:0030331 biolink:PhenotypicFeature Impaired stimulus-induced skin wrinkling A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth). UMLS:C4022505 hp.json http://purl.obolibrary.org/obo/HP_0030331 HP:3000070 biolink:PhenotypicFeature Abnormality of levator anguli oris An abnormality of a levator anguli oris. UMLS:C4073277 hp.json http://purl.obolibrary.org/obo/HP_3000070 HP:0032992 biolink:PhenotypicFeature Abnormal pulmonary fissure architecture An abnormal form or location of a pulmonary fissure. hp.json http://purl.obolibrary.org/obo/HP_0032992 HP:3000071 biolink:PhenotypicFeature Abnormality of levator labii superioris An abnormality of a levator labii superioris. UMLS:C4073278 hp.json http://purl.obolibrary.org/obo/HP_3000071 HP:0032995 biolink:PhenotypicFeature Decreased pulmonary fissure count Lack of one or more of the normal pulmonary fissures. hp.json Reduced pulmonary fissure count http://purl.obolibrary.org/obo/HP_0032995 HP:0030332 biolink:PhenotypicFeature obsolete Abnormal T cell morphology hp.json http://purl.obolibrary.org/obo/HP_0030332 HP:0032994 biolink:PhenotypicFeature Supernumerary pulmonary fissure Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes. hp.json increased pulmonary fissure count http://purl.obolibrary.org/obo/HP_0032994 HP:3000072 biolink:PhenotypicFeature Abnormal levator palpebrae superioris morphology An abnormality of a levator palpebrae superioris. UMLS:C4073279 hp.json http://purl.obolibrary.org/obo/HP_3000072 HP:0030333 biolink:PhenotypicFeature Abnormal alpha-beta T cell morphology A structuraly anomaly of T cells that express an alpha-beta T cell receptor. UMLS:C4022503 hp.json http://purl.obolibrary.org/obo/HP_0030333 HP:0032991 biolink:PhenotypicFeature Abnormal pulmonary fissure morphology An abnormal form or number of the pulmonary fissures. hp.json http://purl.obolibrary.org/obo/HP_0032991 HP:0032990 biolink:PhenotypicFeature Localized pulmonary hemorrhage Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder. hp.json Localised pulmonary haemorrhage http://purl.obolibrary.org/obo/HP_0032990 HP:0030338 biolink:PhenotypicFeature Abnormal circulating gonadotropin concentration An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). UMLS:C4072886 hp.json Abnormal circulating gonadotropin level http://purl.obolibrary.org/obo/HP_0030338 HP:0030339 biolink:PhenotypicFeature Decreased circulating gonadotropin concentration A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). UMLS:C4072887 hp.json Decreased circulating gonadotropin level http://purl.obolibrary.org/obo/HP_0030339 HP:0030334 biolink:PhenotypicFeature Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells. UMLS:C4022502 hp.json http://purl.obolibrary.org/obo/HP_0030334 HP:0032997 biolink:PhenotypicFeature Decreased cystatin C level A decreased concentration of cystatin C in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032997 HP:0030335 biolink:PhenotypicFeature Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells. UMLS:C4021859 hp.json http://purl.obolibrary.org/obo/HP_0030335 HP:0005368 biolink:PhenotypicFeature Abnormality of humoral immunity An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. UMLS:C3150510 hp.json Defective humoral immunity http://purl.obolibrary.org/obo/HP_0005368 HP:0032996 biolink:PhenotypicFeature Abnormal cystatin C level Any deviation from the normal concentration of cystatin C in serum or plasma. hp.json http://purl.obolibrary.org/obo/HP_0032996 HP:0005369 biolink:PhenotypicFeature Decreased serum complement factor H A reduced level of the complement component Factor H in circulation. UMLS:C1969222 hp.json http://purl.obolibrary.org/obo/HP_0005369 HP:0032999 biolink:PhenotypicFeature Increased fecal porphyrin Abnormally high concentration of fecal porphyrins in feces. hp.json Increased faecal porphyrin http://purl.obolibrary.org/obo/HP_0032999 HP:0030336 biolink:PhenotypicFeature Absence of CD4-positive, CD25-positive regulatory T cells Lack of CD4+CD25+ T regulatory cells. UMLS:C4021039 hp.json Absence of CD4+CD25+ T regulatory cells|Absence of CD4+CD25+ Tregs http://purl.obolibrary.org/obo/HP_0030336 HP:0030337 biolink:PhenotypicFeature Elevated CD4-positive, CD25-positive regulatory T cell count An increased number of CD4-positive, CD25-positive regulatory T cells. UMLS:C4022501 hp.json http://purl.obolibrary.org/obo/HP_0030337 HP:0032998 biolink:PhenotypicFeature Increased cystatin C level A elevated concentration of cystatin C in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032998 HP:0005363 biolink:PhenotypicFeature Humoral immunodeficiency A general term referring to a defect in immunity resulting from impaired antibody production. UMLS:C4025206 hp.json http://purl.obolibrary.org/obo/HP_0005363 HP:0005364 biolink:PhenotypicFeature obsolete Severe viral infections hp.json http://purl.obolibrary.org/obo/HP_0005364 HP:0005365 biolink:PhenotypicFeature Severe B lymphocytopenia A severe form of B lymphocytopenia in which the count of B cells is very low or absent. UMLS:C4020824|UMLS:C1863715 hp.json Absent B cells|Absence of B cells http://purl.obolibrary.org/obo/HP_0005365 HP:0005366 biolink:PhenotypicFeature Recurrent streptococcus pneumoniae infections Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. UMLS:C2169794 hp.json http://purl.obolibrary.org/obo/HP_0005366 HP:0005360 biolink:PhenotypicFeature Susceptibility to chickenpox Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox. UMLS:C1855205 hp.json http://purl.obolibrary.org/obo/HP_0005360 HP:0030341 biolink:PhenotypicFeature Decreased circulating follicle stimulating hormone concentration A reduction of the circulating level of follicle-stimulating hormone (FSH). UMLS:C4072889 hp.json Decreased circulating follicle stimulating hormone level http://purl.obolibrary.org/obo/HP_0030341 RO:0040036 biolink:NamedThing results in changes to anatomical or cellular structure p has anatomical participant c iff p has participant c, and c is an anatomical entity hp.json http://purl.obolibrary.org/obo/RO_0040036 HP:0030344 biolink:PhenotypicFeature Decreased circulating luteinizing hormone level A reduction in the circulating level of luteinizing hormone (LH). UMLS:C4072890 hp.json Decreased circulating luteinising hormone level http://purl.obolibrary.org/obo/HP_0030344 HP:0030340 biolink:PhenotypicFeature obsolete Increased circulating gonadotropin level hp.json http://purl.obolibrary.org/obo/HP_0030340 HP:0030349 biolink:PhenotypicFeature Decreased circulating androgen concentration A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. UMLS:C4072894 hp.json Decreased circulating androgen level http://purl.obolibrary.org/obo/HP_0030349 HP:0030345 biolink:PhenotypicFeature Abnormal circulating luteinizing hormone concentration An anomaly of the circulating level of luteinizing hormone (LH). UMLS:C0580438|SNOMEDCT_US:166374003 hp.json Abnormal circulating luteinizing hormone level|Abnormal luteinizing hormone level|Increased circulating lutropin http://purl.obolibrary.org/obo/HP_0030345 HP:0030346 biolink:PhenotypicFeature Abnormal circulating follicle-stimulating hormone concentration An anomaly of the circulating level of follicle-stimulating hormone (FSH). UMLS:C4072891 hp.json Abnormal circulating follicle-stimulating hormone level http://purl.obolibrary.org/obo/HP_0030346 HP:0005379 biolink:PhenotypicFeature obsolete Severe T lymphocytopenia hp.json http://purl.obolibrary.org/obo/HP_0005379 HP:0030347 biolink:PhenotypicFeature Abnormal circulating androgen level An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. UMLS:C4072892 hp.json http://purl.obolibrary.org/obo/HP_0030347 HP:0030348 biolink:PhenotypicFeature Increased circulating androgen concentration An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. UMLS:C4072893 hp.json Increased circulating androgen level http://purl.obolibrary.org/obo/HP_0030348 HP:0005374 biolink:PhenotypicFeature Cellular immunodeficiency An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. UMLS:C1855204 hp.json http://purl.obolibrary.org/obo/HP_0005374 HP:0005375 biolink:PhenotypicFeature obsolete Partial cellular immunodeficiency hp.json http://purl.obolibrary.org/obo/HP_0005375 HP:0005376 biolink:PhenotypicFeature Recurrent Haemophilus influenzae infections Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae. UMLS:C4025204 hp.json Recurrent H. influenzae infections http://purl.obolibrary.org/obo/HP_0005376 HP:0005372 biolink:PhenotypicFeature Abnormality of B cell physiology An abnormality of the physiological functioning of B cells. UMLS:C1849242 hp.json Abnormality of B cell physiology|Reduced B cell function http://purl.obolibrary.org/obo/HP_0005372 GO:0031052 biolink:BiologicalProcess programmed DNA elimination by chromosome breakage Regulated cleavage of the developing macronuclear genome at a limited number of chromosome breakage sites (CBS). The macronuclear destined segment (MDS) sequence adjacent to the CBS (or separated from it by a BES) receives a macronuclear telomere following chromosome breakage. hp.json chromosome breakage http://purl.obolibrary.org/obo/GO_0031052 GO:0031049 biolink:BiologicalProcess programmed DNA elimination A process in which genomic fragments or entire chromosomes are eliminated from somatic cells or from micronuclei of ciliates. This process occurs in the developing macronucleus (anlage) of a ciliate, as well as in other species, including vertebrates and is an irreversible mechanism of gene silencing. hp.json http://purl.obolibrary.org/obo/GO_0031049 goslim_pir HP:0030352 biolink:PhenotypicFeature Abnormal serum insulin-like growth factor 1 level An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. UMLS:C4072896 hp.json http://purl.obolibrary.org/obo/HP_0030352 HP:0030353 biolink:PhenotypicFeature Decreased serum insulin-like growth factor 1 A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. UMLS:C4072897 hp.json http://purl.obolibrary.org/obo/HP_0030353 GO:0006089 biolink:BiologicalProcess lactate metabolic process The chemical reactions and pathways involving lactate, the anion of lactic acid. hp.json 2-hydroxypropanoate metabolism|lactate metabolism|2-hydroxypropanoate metabolic process|alpha-hydroxypropionate metabolism|alpha-hydroxypropionate metabolic process http://purl.obolibrary.org/obo/GO_0006089 HP:0030354 biolink:PhenotypicFeature Abnormal serum interferon level Abnormal levels of interferon in the blood. UMLS:C4072898 hp.json http://purl.obolibrary.org/obo/HP_0030354 HP:0030355 biolink:PhenotypicFeature Abnormal serum interferon-gamma level Abnormal levels of interferon gamma measured in the blood circulation. UMLS:C4072899 hp.json http://purl.obolibrary.org/obo/HP_0030355 HP:0030350 biolink:PhenotypicFeature Erythematous papule A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. UMLS:C0747241 hp.json Red-blue papule http://purl.obolibrary.org/obo/HP_0030350 HP:0030351 biolink:PhenotypicFeature Urticarial plaque A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter. UMLS:C4072895 hp.json http://purl.obolibrary.org/obo/HP_0030351 GO:0006094 biolink:BiologicalProcess gluconeogenesis The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. Wikipedia:Gluconeogenesis|MetaCyc:GLUCONEO-PWY hp.json glucose biosynthesis|glucose biosynthetic process http://purl.obolibrary.org/obo/GO_0006094 HP:0005349 biolink:PhenotypicFeature Hypoplasia of the epiglottis Hypoplasia of the epiglottis. UMLS:C1396772 hp.json Hypoplastic epiglottis http://purl.obolibrary.org/obo/HP_0005349 HP:0005345 biolink:PhenotypicFeature Abnormal vena cava morphology An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. UMLS:C4025210 hp.json Abnormality of the vena cava http://purl.obolibrary.org/obo/HP_0005345 GO:0006090 biolink:BiologicalProcess pyruvate metabolic process The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. MetaCyc:P41-PWY|Wikipedia:Pyruvic_acid hp.json pyruvate dehydrogenase bypass|pyruvate metabolism http://purl.obolibrary.org/obo/GO_0006090 goslim_drosophila HP:0030356 biolink:PhenotypicFeature Increased serum interferon-gamma level An elevation in the concentration of interferon gamma measured in the blood circulation. UMLS:C4072900 hp.json http://purl.obolibrary.org/obo/HP_0030356 GO:0006091 biolink:BiologicalProcess generation of precursor metabolites and energy The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. hp.json energy pathways|intermediary metabolism|metabolic energy generation http://purl.obolibrary.org/obo/GO_0006091 prokaryote_subset|goslim_plant|goslim_pir|goslim_pombe|goslim_drosophila|goslim_chembl|goslim_metagenomics|goslim_yeast|goslim_candida|goslim_generic HP:0005346 biolink:PhenotypicFeature Abnormal facial expression UMLS:C4025209 hp.json Abnormal facial expression http://purl.obolibrary.org/obo/HP_0005346 HP:0030357 biolink:PhenotypicFeature Small cell lung carcinoma Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly. MSH:D055752|UMLS:C0149925|SNOMEDCT_US:254633006|SNOMEDCT_US:254632001 hp.json Oat cell lung cancer|Oat cell carcinoma of lung|Small cell lung cancer http://purl.obolibrary.org/obo/HP_0030357 HP:0030358 biolink:PhenotypicFeature Non-small cell lung carcinoma UMLS:C0007131|MSH:D002289|SNOMEDCT_US:254637007 hp.json Non-small cell lung cancer http://purl.obolibrary.org/obo/HP_0030358 HP:0005347 biolink:PhenotypicFeature Tracheal cartilaginous sleeve Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes. UMLS:C1863363 hp.json http://purl.obolibrary.org/obo/HP_0005347 HP:0030359 biolink:PhenotypicFeature Squamous cell lung carcinoma A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells. SNOMEDCT_US:254634000|UMLS:C0149782 hp.json http://purl.obolibrary.org/obo/HP_0030359 HP:0005348 biolink:PhenotypicFeature Inspiratory stridor Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. SNOMEDCT_US:58596002|UMLS:C0677600 hp.json http://purl.obolibrary.org/obo/HP_0005348 HP:0005341 biolink:PhenotypicFeature Autonomic bladder dysfunction Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. UMLS:C4025212 hp.json http://purl.obolibrary.org/obo/HP_0005341 HP:0005343 biolink:PhenotypicFeature Hypoplasia of the bladder Underdevelopment of the urinary bladder. UMLS:C1855335 hp.json Underdeveloped bladder|Hypoplastic bladder http://purl.obolibrary.org/obo/HP_0005343 HP:0005344 biolink:PhenotypicFeature Abnormal carotid artery morphology Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches. UMLS:C4025211 hp.json Abnormality of the carotid arteries http://purl.obolibrary.org/obo/HP_0005344 HP:0005340 biolink:PhenotypicFeature Spastic/hyperactive bladder UMLS:C1836904 hp.json http://purl.obolibrary.org/obo/HP_0005340 HP:0030363 biolink:PhenotypicFeature Primary Caesarian section Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section. UMLS:C4072903 hp.json http://purl.obolibrary.org/obo/HP_0030363 HP:0030364 biolink:PhenotypicFeature Secondary Caesarian section Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth. UMLS:C4072904 hp.json http://purl.obolibrary.org/obo/HP_0030364 HP:0030365 biolink:PhenotypicFeature Vaginal birth after Caesarian Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally. MSH:D016064|UMLS:C0080301 hp.json http://purl.obolibrary.org/obo/HP_0030365 HP:0030366 biolink:PhenotypicFeature Delivery by Odon device The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process. UMLS:C4072905 hp.json http://purl.obolibrary.org/obo/HP_0030366 HP:0030360 biolink:PhenotypicFeature Large cell lung carcinoma A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. UMLS:C0345958|SNOMEDCT_US:254629004 hp.json http://purl.obolibrary.org/obo/HP_0030360 GO:0006096 biolink:BiologicalProcess glycolytic process The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. MetaCyc:GLYCOLYSIS-VARIANTS hp.json anaerobic glycolysis|Embden-Meyerhof-Parnas pathway|glycolysis|Embden-Meyerhof pathway|modifed Embden-Meyerhof pathway http://purl.obolibrary.org/obo/GO_0006096 HP:0030361 biolink:PhenotypicFeature Abnormal circulating eicosanoid concentration Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid). UMLS:C4072901 hp.json Abnormality of icosanoid metabolism http://purl.obolibrary.org/obo/HP_0030361 HP:0030362 biolink:PhenotypicFeature Reduced muscle carnitine level A reduction in the level of carnitine in muscle tissue. UMLS:C4072902 hp.json http://purl.obolibrary.org/obo/HP_0030362 HP:0030367 biolink:PhenotypicFeature Finger hyperphalangy Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. UMLS:C4072906 hp.json http://purl.obolibrary.org/obo/HP_0030367 HP:0005356 biolink:PhenotypicFeature Decreased serum complement factor I A reduced level of the complement component Factor I in circulation. UMLS:C1970257 hp.json http://purl.obolibrary.org/obo/HP_0005356 HP:0005357 biolink:PhenotypicFeature Defective B cell differentiation Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. UMLS:C1859624 hp.json http://purl.obolibrary.org/obo/HP_0005357 HP:0030368 biolink:PhenotypicFeature Hyperphalangy of the 2nd finger An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. UMLS:C4072907 hp.json Hyperphalangy of index finger http://purl.obolibrary.org/obo/HP_0030368 HP:0030369 biolink:PhenotypicFeature Induced vaginal delivery Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own. UMLS:C4072908 hp.json http://purl.obolibrary.org/obo/HP_0030369 HP:0005359 biolink:PhenotypicFeature Aplasia of the thymus Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. SNOMEDCT_US:702623002|UMLS:C0685894|MSH:C536288|SNOMEDCT_US:91918005 hp.json Absent thymic shadow|Athymia|Absent thymus|Lack of thymic shadow http://purl.obolibrary.org/obo/HP_0005359 HP:0005352 biolink:PhenotypicFeature Severe T-cell immunodeficiency A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. UMLS:C4025208 hp.json Severe T-cell immunodeficiency http://purl.obolibrary.org/obo/HP_0005352 HP:0005353 biolink:PhenotypicFeature Recurrent herpes Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. UMLS:C4025207 hp.json Susceptibility to herpesvirus http://purl.obolibrary.org/obo/HP_0005353 HP:0005354 biolink:PhenotypicFeature Lack of T cell function Complete inability of T cells to perform their functions in cell-mediated immunity. UMLS:C1849426 hp.json Absent cellular immunity http://purl.obolibrary.org/obo/HP_0005354 GO:0033696 biolink:BiologicalProcess heterochromatin boundary formation A process that forms a boundary that limits the spreading of heterochromatin along a chromosome. hp.json negative regulation of extent of heterochromatin assembly|maintenance of heterochromatin boundaries|negative regulation of heterochromatin spreading|negative regulation of extent of heterochromatin formation|regulation of extent of heterochromatin formation|regulation of heterochromatin spreading|regulation of extent of heterochromatin assembly http://purl.obolibrary.org/obo/GO_0033696 GO:0031032 biolink:BiologicalProcess actomyosin structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. hp.json actomyosin structure organisation|actomyosin structure organization and biogenesis|actomyosin organization http://purl.obolibrary.org/obo/GO_0031032 GO:0033692 biolink:NamedThing cellular polysaccharide biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0033692 HP:0032951 biolink:PhenotypicFeature Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. hp.json http://purl.obolibrary.org/obo/HP_0032951 HP:0032950 biolink:PhenotypicFeature Abnormal renal tubular lumen morphology Abnormal structure or form of the lumen (opening) of kidney tubules. hp.json Abnormal renal tubular luminal morphology http://purl.obolibrary.org/obo/HP_0032950 GO:0006066 biolink:BiologicalProcess alcohol metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. hp.json alcohol metabolism http://purl.obolibrary.org/obo/GO_0006066 goslim_pir|goslim_drosophila HP:0032957 biolink:PhenotypicFeature Dysmorphic hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. hp.json Acanthocyturia http://purl.obolibrary.org/obo/HP_0032957 HP:0032956 biolink:PhenotypicFeature Renal tubular herpes simplex virus inclusions Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. hp.json http://purl.obolibrary.org/obo/HP_0032956 GO:0006073 biolink:NamedThing cellular glucan metabolic process hp.json http://purl.obolibrary.org/obo/GO_0006073 HP:0032959 biolink:PhenotypicFeature Intratubular calcium oxalate casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0032959 HP:0032958 biolink:PhenotypicFeature Urinary oval fat bodies The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets. hp.json http://purl.obolibrary.org/obo/HP_0032958 HP:0032953 biolink:PhenotypicFeature Renal tubular cytomegalovirus inclusions Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. hp.json http://purl.obolibrary.org/obo/HP_0032953 HP:0032952 biolink:PhenotypicFeature Usual-type tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. hp.json Common-type renal tubular atrophy http://purl.obolibrary.org/obo/HP_0032952 HP:0032955 biolink:PhenotypicFeature Renal tubular polyoma virus inclusions Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. hp.json http://purl.obolibrary.org/obo/HP_0032955 HP:0032954 biolink:PhenotypicFeature Renal tubular adenovirus inclusions Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage. hp.json http://purl.obolibrary.org/obo/HP_0032954 OBO:MAXO_0000493 biolink:NamedThing cardiovascular diagnostic procedure Procedure to evaluate the structure and/or function of the cardiovascular system. NCIT:C100084|CMO:0000001 hp.json cardiovascular measurement http://purl.obolibrary.org/obo/MAXO_0000493 OBO:MAXO_0000494 biolink:NamedThing blood pressure measurement Measurement of the pressure on the walls of the vessels as blood moves around the body. Systolic blood pressure is the pressure when the heart beats – while the heart muscle is contracting (squeezing) and pumping oxygen-rich blood into the blood vessels. Diastolic blood pressure is the pressure on the blood vessels when the heart muscle relaxes. The diastolic pressure is always lower than the systolic pressure. CMO:0000003|NCBIBook:NBK279251 hp.json blood pressure assessment|blood pressure monitoring http://purl.obolibrary.org/obo/MAXO_0000494 OBO:MAXO_0000491 biolink:NamedThing pulse assessment Assessment and recording of arterial pulses in any of a number of locations. The observer should note its intensity, rate, rhythm, and if any blood vessel tenderness, tortuosity, or nodularity exists. NCBIBook:NBK350 hp.json http://purl.obolibrary.org/obo/MAXO_0000491 OBO:MAXO_0000492 biolink:NamedThing respiratory rate assessment The rate of breathing (inhalation and exhalation) measured within in a unit time, usually expressed as breaths per minute. NCIT:C49678|CMO:0000289 hp.json http://purl.obolibrary.org/obo/MAXO_0000492 OBO:MAXO_0000497 biolink:NamedThing noninvasive blood pressure measurement A method for monitoring blood pressure without requiring instruments introduced into the body. VSO:0000024|PMID:20937442|NCIT:C69319 hp.json non-invasive blood presure measurement http://purl.obolibrary.org/obo/MAXO_0000497 OBO:MAXO_0000498 biolink:NamedThing invasive blood pressure measurement An intra-arterial method of monitoring blood pressure. VSO:0000023 hp.json http://purl.obolibrary.org/obo/MAXO_0000498 OBO:MAXO_0000495 biolink:NamedThing auscultatory blood pressure measurement Monitoring blood pressure with a sphygmomanometer and a stethoscope to hear blood flow. VSO:0000001|MMO:0000055|PMID:20937442|NCIT:C69318 hp.json auscultatory blood pressure measurement process|auscultatory blood pressure monitoring|ausculatory sphygmomanometer blood pressure measurement http://purl.obolibrary.org/obo/MAXO_0000495 OBO:MAXO_0000496 biolink:NamedThing oscillometric blood pressure measurement A blood pressure measurement using a sphygmomanometer and an electronic pressure sensor (transducer) that detects blood flow by the presence of oscillations in the cuff pressure. VSO:0000026|PMID:20937442|NCIT:C69319 hp.json http://purl.obolibrary.org/obo/MAXO_0000496 GO:0045600 biolink:BiologicalProcess positive regulation of fat cell differentiation Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. hp.json positive regulation of adipocyte differentiation|stimulation of fat cell differentiation|up regulation of fat cell differentiation|positive regulation of adipocyte cell differentiation|up-regulation of fat cell differentiation|activation of fat cell differentiation|upregulation of fat cell differentiation http://purl.obolibrary.org/obo/GO_0045600 HP:0032960 biolink:PhenotypicFeature Intratubular calcium phosphate casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0032960 GO:0045601 biolink:BiologicalProcess regulation of endothelial cell differentiation Any process that modulates the frequency, rate or extent of endothelial cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0045601 HP:0032962 biolink:PhenotypicFeature Tubular microcystic change Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. hp.json http://purl.obolibrary.org/obo/HP_0032962 HP:0030300 biolink:PhenotypicFeature 10 pairs of ribs Presence of only 10 (instead of the usual 12) pairs of ribs. UMLS:C4022526 hp.json 10 pairs of ribs http://purl.obolibrary.org/obo/HP_0030300 HP:0032961 biolink:PhenotypicFeature Magnesium ammonium phosphate crystalluria Magnesium ammonium phosphate crystals in the urine. hp.json Struvite urinary crystals http://purl.obolibrary.org/obo/HP_0032961 OBO:MAXO_0000490 biolink:NamedThing heart rate measurement An assessment of the number of heartbeats per unit time, usually expressed as beats per minute. NCIT:C49677|CMO:0000002 hp.json heart rate assessment|HR measurement http://purl.obolibrary.org/obo/MAXO_0000490 HP:0032968 biolink:PhenotypicFeature Expiratory air trapping Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. hp.json http://purl.obolibrary.org/obo/HP_0032968 HP:0030305 biolink:PhenotypicFeature Decreased number of vertebrae UMLS:C4022522 hp.json http://purl.obolibrary.org/obo/HP_0030305 HP:0032967 biolink:PhenotypicFeature Panacinar emphysema Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis. hp.json http://purl.obolibrary.org/obo/HP_0032967 HP:0030306 biolink:PhenotypicFeature 11 thoracic vertebrae The presence of 11 instead of the normal 12 thoracic vertebrae. UMLS:C4022521 hp.json http://purl.obolibrary.org/obo/HP_0030306 GO:0045606 biolink:BiologicalProcess positive regulation of epidermal cell differentiation Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation. hp.json positive regulation of hypodermal cell differentiation|stimulation of epidermal cell differentiation|up-regulation of epidermal cell differentiation|activation of epidermal cell differentiation|upregulation of epidermal cell differentiation|up regulation of epidermal cell differentiation http://purl.obolibrary.org/obo/GO_0045606 GO:0006081 biolink:BiologicalProcess cellular aldehyde metabolic process The chemical reactions and pathways involving aldehydes, any organic compound with the formula R-CH=O, as carried out by individual cells. hp.json alkanal metabolic process|aldehyde metabolism|alkanal metabolism http://purl.obolibrary.org/obo/GO_0006081 goslim_pir HP:0030307 biolink:PhenotypicFeature Flared lower limb metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. UMLS:C4022520 hp.json Flared metaphysis of lower limb bone http://purl.obolibrary.org/obo/HP_0030307 HP:0030308 biolink:PhenotypicFeature Flared distal tibial metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia. UMLS:C4022519 hp.json Flared outermost metaphysis of shankbone|Flared outermost metaphysis of shinbone http://purl.obolibrary.org/obo/HP_0030308 HP:0032969 biolink:PhenotypicFeature Traction bronchiectasis Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts. hp.json http://purl.obolibrary.org/obo/HP_0032969 GO:0006082 biolink:BiologicalProcess organic acid metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. hp.json organic acid metabolism http://purl.obolibrary.org/obo/GO_0006082 goslim_pir GO:0045604 biolink:BiologicalProcess regulation of epidermal cell differentiation Any process that modulates the frequency, rate or extent of epidermal cell differentiation. hp.json regulation of hypodermal cell differentiation http://purl.obolibrary.org/obo/GO_0045604 HP:0030301 biolink:PhenotypicFeature Abnormality of the anterior commissure An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. UMLS:C4022525 hp.json http://purl.obolibrary.org/obo/HP_0030301 HP:0032964 biolink:PhenotypicFeature Uric acid crystalluria The presence of uric acid crystals in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032964 HP:0032963 biolink:PhenotypicFeature Complex renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. hp.json http://purl.obolibrary.org/obo/HP_0032963 GO:0045605 biolink:BiologicalProcess negative regulation of epidermal cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal cell differentiation. hp.json downregulation of epidermal cell differentiation|negative regulation of hypodermal cell differentiation|down regulation of epidermal cell differentiation|inhibition of epidermal cell differentiation|down-regulation of epidermal cell differentiation http://purl.obolibrary.org/obo/GO_0045605 HP:0030302 biolink:PhenotypicFeature Agenesis of the anterior commissure Absence of the anterior commissure. UMLS:C1851087 hp.json http://purl.obolibrary.org/obo/HP_0030302 HP:0032966 biolink:PhenotypicFeature Centrilobular emphysema A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones. hp.json Centriacinar emphysema http://purl.obolibrary.org/obo/HP_0032966 GO:0045602 biolink:BiologicalProcess negative regulation of endothelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of endothelial cell differentiation. hp.json downregulation of endothelial cell differentiation|down regulation of endothelial cell differentiation|inhibition of endothelial cell differentiation|down-regulation of endothelial cell differentiation http://purl.obolibrary.org/obo/GO_0045602 HP:0030303 biolink:PhenotypicFeature Hypoplastic anterior commissure Underdevelopment of the anterior commissure. UMLS:C4022524 hp.json http://purl.obolibrary.org/obo/HP_0030303 GO:0045603 biolink:BiologicalProcess positive regulation of endothelial cell differentiation Any process that activates or increases the frequency, rate or extent of endothelial cell differentiation. hp.json up-regulation of endothelial cell differentiation|activation of endothelial cell differentiation|upregulation of endothelial cell differentiation|up regulation of endothelial cell differentiation|stimulation of endothelial cell differentiation http://purl.obolibrary.org/obo/GO_0045603 HP:0032965 biolink:PhenotypicFeature Interstitial emphysema Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts. hp.json http://purl.obolibrary.org/obo/HP_0032965 HP:0030304 biolink:PhenotypicFeature Abnormal number of vertebrae A deviation from the normal number of vertebrae in the spinal column. UMLS:C4022523 hp.json http://purl.obolibrary.org/obo/HP_0030304 GO:0031012 biolink:CellularComponent extracellular matrix A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. Wikipedia:Extracellular_matrix|NIF_Subcellular:nlx_subcell_20090513 hp.json proteinaceous extracellular matrix|matrisome http://purl.obolibrary.org/obo/GO_0031012 goslim_generic|prokaryote_subset|goslim_pir|goslim_drosophila|goslim_chembl GO:0033674 biolink:BiologicalProcess positive regulation of kinase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. hp.json kinase activator|up-regulation of kinase activity|up regulation of kinase activity|stimulation of kinase activity|upregulation of kinase activity http://purl.obolibrary.org/obo/GO_0033674 GO:0033673 biolink:BiologicalProcess negative regulation of kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. hp.json down regulation of kinase activity|downregulation of kinase activity|inhibition of kinase activity|kinase inhibitor|down-regulation of kinase activity http://purl.obolibrary.org/obo/GO_0033673 HP:0030309 biolink:PhenotypicFeature Flared distal fibular metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. UMLS:C4022518 hp.json Flared outermost wide portion of of calf bone http://purl.obolibrary.org/obo/HP_0030309 GO:0021682 biolink:BiologicalProcess nerve maturation A developmental process, independent of morphogenetic (shape) change, that is required for a nerve to attain its fully functional state. hp.json http://purl.obolibrary.org/obo/GO_0021682 HP:0005390 biolink:PhenotypicFeature Recurrent opportunistic infections Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. UMLS:C1832324 hp.json Frequent opportunistic infections http://purl.obolibrary.org/obo/HP_0005390 HP:0032971 biolink:PhenotypicFeature Computed tomographic halo sign CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm. hp.json CT halo sign http://purl.obolibrary.org/obo/HP_0032971 HP:0032970 biolink:PhenotypicFeature Traction bronchiolectasis hp.json http://purl.obolibrary.org/obo/HP_0032970 HP:0030310 biolink:PhenotypicFeature Upper extremity joint dislocation Displacement or malalignment of one or more joints in the upper extremity (arm). UMLS:C4022517 hp.json Dislocated arm joints http://purl.obolibrary.org/obo/HP_0030310 HP:0032973 biolink:PhenotypicFeature Abnormal bronchoalveolar lavage fluid morphology Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. hp.json http://purl.obolibrary.org/obo/HP_0032973 HP:0030311 biolink:PhenotypicFeature Lower extremity joint dislocation Displacement or malalignment of one or more joints in the lower extremity (leg). UMLS:C4022516 hp.json Dislocated leg joints http://purl.obolibrary.org/obo/HP_0030311 HP:0032972 biolink:PhenotypicFeature Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases. hp.json http://purl.obolibrary.org/obo/HP_0032972 GO:0045619 biolink:BiologicalProcess regulation of lymphocyte differentiation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. hp.json regulation of lymphocyte development http://purl.obolibrary.org/obo/GO_0045619 HP:0032979 biolink:PhenotypicFeature Hemosiderin-laden macrophages in bronchoalveolar fluid Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP). hp.json Accumulation of hemosiderin laden alveolar macrophages|Siderophages in bronchoalveolar fluid http://purl.obolibrary.org/obo/HP_0032979 HP:0032978 biolink:PhenotypicFeature Lipid-laden macrophages in bronchoalveolar fluid Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions. hp.json http://purl.obolibrary.org/obo/HP_0032978 HP:0030318 biolink:PhenotypicFeature Angular cheilitis A type of inflammation of the lips involving one or both of the corners of the mouth. UMLS:C0221237|SNOMEDCT_US:266429005 hp.json Commissural cheilitis|Angular stomatitis|Inflammation of oral commisures|Angular cheilosis|Red and sore corners of the mouth|Inflammation of corners of the mouth http://purl.obolibrary.org/obo/HP_0030318 GO:0045617 biolink:BiologicalProcess negative regulation of keratinocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation. hp.json downregulation of keratinocyte differentiation|down regulation of keratinocyte differentiation|inhibition of keratinocyte differentiation|down-regulation of keratinocyte differentiation http://purl.obolibrary.org/obo/GO_0045617 HP:0030319 biolink:PhenotypicFeature Weakness of facial musculature Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). UMLS:C4022514 hp.json Facial weakness|Decreased facial muscle strength|Weakness of face|Decreased strength of facial muscles|Face weakness|Reduced facial muscle strength|Facial muscle weakness|Myasthenia of facial muscles|Weakness of facial musculature http://purl.obolibrary.org/obo/HP_0030319 GO:0045618 biolink:BiologicalProcess positive regulation of keratinocyte differentiation Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation. hp.json up regulation of keratinocyte differentiation|stimulation of keratinocyte differentiation|up-regulation of keratinocyte differentiation|activation of keratinocyte differentiation|upregulation of keratinocyte differentiation http://purl.obolibrary.org/obo/GO_0045618 HP:0032975 biolink:PhenotypicFeature Abnormal bronchoalveolar fluid protein level Any deviation from the normal concentration of protein in the bronchoalveolar fluid. hp.json Abnormal biochemical composition of broncho-alveolar fluid|Abnormal level of proteins in the broncho-alveolar fluid http://purl.obolibrary.org/obo/HP_0032975 HP:0030312 biolink:PhenotypicFeature Obliteration of the calvarial diploe Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). UMLS:C1860855 hp.json Obliteration of cranial cancellous bone http://purl.obolibrary.org/obo/HP_0030312 HP:0005389 biolink:PhenotypicFeature Depletion of components of the alternative complement pathway An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. UMLS:C1969220 hp.json http://purl.obolibrary.org/obo/HP_0005389 HP:0030313 biolink:PhenotypicFeature Abnormal periosteum morphology An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. UMLS:C4022515 hp.json http://purl.obolibrary.org/obo/HP_0030313 HP:0032974 biolink:PhenotypicFeature Abnormal cellular composition of bronchoalveolar fluid Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. hp.json Abnormal cell differential of broncho-alveolar fluid http://purl.obolibrary.org/obo/HP_0032974 GO:0045616 biolink:BiologicalProcess regulation of keratinocyte differentiation Any process that modulates the frequency, rate or extent of keratinocyte differentiation. hp.json http://purl.obolibrary.org/obo/GO_0045616 HP:0032977 biolink:PhenotypicFeature Elevated bronchoalveolar lavage fluid neutrophil proportion Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. hp.json Elevated level of neutrophils in broncho-alveolar lavage fluid http://purl.obolibrary.org/obo/HP_0032977 HP:0030314 biolink:PhenotypicFeature Periostosis Abnormal deposition of periosteal bone. UMLS:C1409412 hp.json http://purl.obolibrary.org/obo/HP_0030314 HP:0032976 biolink:PhenotypicFeature Elevated bronchoalveolar lavage fluid lymphocyte proportion Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases. hp.json http://purl.obolibrary.org/obo/HP_0032976 HP:0005386 biolink:PhenotypicFeature Recurrent protozoan infections Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. UMLS:C4025202 hp.json http://purl.obolibrary.org/obo/HP_0005386 HP:0005387 biolink:PhenotypicFeature Combined immunodeficiency A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. UMLS:C0494261 hp.json http://purl.obolibrary.org/obo/HP_0005387 HP:0005381 biolink:PhenotypicFeature Recurrent meningococcal disease Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus. UMLS:C1970263 hp.json Increased susceptibility to neisseria meningitidis infections http://purl.obolibrary.org/obo/HP_0005381 HP:0005384 biolink:PhenotypicFeature Defective B cell activation A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of UMLS:C1846551 hp.json http://purl.obolibrary.org/obo/HP_0005384 GO:0021675 biolink:BiologicalProcess nerve development The process whose specific outcome is the progression of a nerve over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0021675 HP:0032982 biolink:PhenotypicFeature obsolete Intraalveolar phospholipid accumulation hp.json http://purl.obolibrary.org/obo/HP_0032982 HP:0030320 biolink:PhenotypicFeature Increased intervertebral space An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. UMLS:C4022513 hp.json http://purl.obolibrary.org/obo/HP_0030320 HP:0032981 biolink:PhenotypicFeature Absent bronchoalveolar dimeric surfactant-protein B Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. hp.json http://purl.obolibrary.org/obo/HP_0032981 GO:0045620 biolink:BiologicalProcess negative regulation of lymphocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation. hp.json inhibition of lymphocyte differentiation|negative regulation of lymphocyte development|down-regulation of lymphocyte differentiation|downregulation of lymphocyte differentiation|down regulation of lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0045620 HP:0030321 biolink:PhenotypicFeature Abnormal vertebral artery morphology An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. UMLS:C4022512 hp.json Abnormality of the vertebral artery http://purl.obolibrary.org/obo/HP_0030321 HP:0032984 biolink:PhenotypicFeature Abnormal alveolar macrophage morphology Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles. hp.json http://purl.obolibrary.org/obo/HP_0032984 HP:0030322 biolink:PhenotypicFeature Vertebral artery hypoplasia Underdevelopment of the vertebral artery. UMLS:C1868737 hp.json http://purl.obolibrary.org/obo/HP_0030322 GO:0045621 biolink:BiologicalProcess positive regulation of lymphocyte differentiation Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation. hp.json upregulation of lymphocyte differentiation|positive regulation of lymphocyte development|up regulation of lymphocyte differentiation|stimulation of lymphocyte differentiation|up-regulation of lymphocyte differentiation|activation of lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0045621 HP:0032983 biolink:PhenotypicFeature Atoll sign CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. hp.json Reversed halo sign http://purl.obolibrary.org/obo/HP_0032983 HP:0032980 biolink:PhenotypicFeature Absent bronchoalveolar surfactant-protein C Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region. hp.json http://purl.obolibrary.org/obo/HP_0032980 HP:0030327 biolink:PhenotypicFeature Abnormal osteoclast count An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue. UMLS:C4022508 hp.json http://purl.obolibrary.org/obo/HP_0030327 HP:0030328 biolink:PhenotypicFeature Decreased osteoclast count Decreased number of osteoclasts in bone tissue. UMLS:C4022507 hp.json http://purl.obolibrary.org/obo/HP_0030328 PR:000009978 biolink:Protein lactotransferrin A protein that is a translation product of the human LTF gene or a 1:1 ortholog thereof. hp.json LF|LTF|lactoferrin|GIG12|talalactoferrin http://purl.obolibrary.org/obo/PR_000009978 HP:0032989 biolink:PhenotypicFeature Delayed ability to roll over Delayed ahcievement of the ability to roll front to back and back to front. hp.json http://purl.obolibrary.org/obo/HP_0032989 HP:0030329 biolink:PhenotypicFeature Retinal thinning Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). UMLS:C3549703 hp.json Retinal thinning http://purl.obolibrary.org/obo/HP_0030329 HP:0032986 biolink:PhenotypicFeature Smoker-inclusions in alveolar macrophages In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits. hp.json http://purl.obolibrary.org/obo/HP_0032986 HP:0030323 biolink:PhenotypicFeature Unilateral vertebral artery hypoplasia Underdevelopment of the vertebral artery on one side. UMLS:C3279090 hp.json http://purl.obolibrary.org/obo/HP_0030323 HP:0032985 biolink:PhenotypicFeature Dust particle inclusion in alveolar macrophages Accumulation of inhaled, nondigestable particles in macrophages. hp.json http://purl.obolibrary.org/obo/HP_0032985 HP:0030324 biolink:PhenotypicFeature Bilateral vertebral artery hypoplasia Underdevelopment of the vertebral artery on both sides. UMLS:C4022511 hp.json http://purl.obolibrary.org/obo/HP_0030324 HP:0030325 biolink:PhenotypicFeature Cervicomedullary schisis Fissure within the spinal cord of the neck. UMLS:C4022510 hp.json http://purl.obolibrary.org/obo/HP_0030325 HP:0032988 biolink:PhenotypicFeature Persistent head lag The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. hp.json Headlag|Head lag http://purl.obolibrary.org/obo/HP_0032988 HP:0030326 biolink:PhenotypicFeature Abnormal macrophage count An anomaly in the number of macrophages. UMLS:C4022509 hp.json http://purl.obolibrary.org/obo/HP_0030326 HP:0032987 biolink:PhenotypicFeature Elevated bronchoalveolar lavage fluid eosinophil proportion Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced. hp.json http://purl.obolibrary.org/obo/HP_0032987 HP:0005396 biolink:PhenotypicFeature Susceptibility to coronavirus 229e Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e. UMLS:C1852539 hp.json http://purl.obolibrary.org/obo/HP_0005396 HP:0005397 biolink:PhenotypicFeature obsolete Exaggerated cellular immune processes hp.json http://purl.obolibrary.org/obo/HP_0005397 OBO:MAXO_0000581 biolink:NamedThing calcium assessment A quantitative measurement of the amount of calcium present in a sample, usually serum or urine. NCIT:C64488 hp.json calcium measurement http://purl.obolibrary.org/obo/MAXO_0000581 OBO:MAXO_0000582 biolink:NamedThing electrolyte assessment A quantitative measurement of the amount of an electrolyte present in urine or serum. NCIT:C74946 hp.json electrolyte measurement http://purl.obolibrary.org/obo/MAXO_0000582 OBO:MAXO_0000580 biolink:NamedThing anion gap assessment The determination of the unmeasured anions (those other than the chloride and bicarbonate anions) present in a sample. NCIT:C74685 hp.json anion gap measurement testing http://purl.obolibrary.org/obo/MAXO_0000580 OBO:MAXO_0000585 biolink:NamedThing microbial culture procedure Any laboratory procedure for growing microorganisms. NCIT:C25300 hp.json http://purl.obolibrary.org/obo/MAXO_0000585 OBO:MAXO_0000583 biolink:NamedThing serum electrolyte assessment A quantitative measurement of the amount of an electrolyte present in serum. hp.json serum electrolyte measurement|electrolytes- serum testing http://purl.obolibrary.org/obo/MAXO_0000583 OBO:MAXO_0000584 biolink:NamedThing urine eletrolyte assessment A quantitative measurement of the amount of an electrolyte present in urine. hp.json urine eletrolyte measurement|electrolytes- urine testing http://purl.obolibrary.org/obo/MAXO_0000584 HP:0007949 biolink:PhenotypicFeature obsolete Progressive macular scarring hp.json http://purl.obolibrary.org/obo/HP_0007949 HP:0032913 biolink:PhenotypicFeature Focal aware pedal automatism seizure A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. hp.json http://purl.obolibrary.org/obo/HP_0032913 HP:0007946 biolink:PhenotypicFeature Unilateral narrow palpebral fissure A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. UMLS:C4280419|UMLS:C1866805 hp.json Narrow palpebral fissure, unilateral|Unequal size of opening between the eyelids http://purl.obolibrary.org/obo/HP_0007946 HP:0007945 biolink:PhenotypicFeature obsolete Choroidal degeneration hp.json http://purl.obolibrary.org/obo/HP_0007945 HP:0032912 biolink:PhenotypicFeature Focal aware manual automatism seizure A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032912 HP:0032915 biolink:PhenotypicFeature Focal aware vocal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032915 HP:0007948 biolink:PhenotypicFeature Dense posterior cortical cataract A type of posterior cortical cataract characterized by dense lenticular opacities. UMLS:C4024767 hp.json http://purl.obolibrary.org/obo/HP_0007948 HP:0007947 biolink:PhenotypicFeature Pericentral retinitis pigmentosa A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. MSH:C564838|UMLS:C1849398 hp.json http://purl.obolibrary.org/obo/HP_0007947 HP:0032914 biolink:PhenotypicFeature Focal aware perseverative automatism seizure A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032914 HP:0007942 biolink:PhenotypicFeature Internal ophthalmoplegia Paralysis of the iris and ciliary apparatus. MSH:D009886|UMLS:C0339693|SNOMEDCT_US:232146005 hp.json http://purl.obolibrary.org/obo/HP_0007942 HP:0007941 biolink:PhenotypicFeature Limited extraocular movements Limited mobility of the eye within its socket. UMLS:C1858427 hp.json Limited extraocular movement http://purl.obolibrary.org/obo/HP_0007941 HP:0007944 biolink:PhenotypicFeature Intermittent microsaccadic pursuits UMLS:C4024768 hp.json http://purl.obolibrary.org/obo/HP_0007944 HP:0032911 biolink:PhenotypicFeature Focal aware orofacial automatism seizure A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032911 HP:0007943 biolink:PhenotypicFeature Congenital stapes ankylosis A form of stapes ankylosis with congenital onset. UMLS:C1866657 hp.json http://purl.obolibrary.org/obo/HP_0007943 HP:0032910 biolink:PhenotypicFeature Focal aware automatism seizure A type of focal automatism seizure during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032910 OBO:MAXO_0000589 biolink:NamedThing nucleic acid amplification testing A tecnique that uses an amplification of nucleic acids to detect a pathogen. Some amplification methods include polymerase chain reaction (PCR), strand displacement assay (SDA), or transcription mediated assay (TMA) to detect a virus, bacteria or other pathogen. NCIT:C20055 hp.json NAAT|nucleic acid amplification procedure http://purl.obolibrary.org/obo/MAXO_0000589 OBO:MAXO_0000588 biolink:NamedThing clinical nucleic acid testing A technique that detects a particular nucleic acid sequence in order to identify a pathogen (organism or virus) in blood, tissue, urine, or other bodily fluids. hp.json nucleic acid testing|NAT http://purl.obolibrary.org/obo/MAXO_0000588 HP:0032917 biolink:PhenotypicFeature Focal aware sexual automatism seizure A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032917 HP:0032916 biolink:PhenotypicFeature Focal aware verbal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032916 HP:0032919 biolink:PhenotypicFeature Focal aware head nodding automatism seizure A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032919 HP:0032918 biolink:PhenotypicFeature Focal impaired awareness orofacial automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset. hp.json http://purl.obolibrary.org/obo/HP_0032918 OBO:MAXO_0000570 biolink:NamedThing induced sputum collection A technique to collect sputum by inhaling hypertonic saline through an oxygen mask in order to induce sputum. hp.json http://purl.obolibrary.org/obo/MAXO_0000570 OBO:MAXO_0000571 biolink:NamedThing computed tomography procedure A method of examining structures within the body by scanning them with X rays and using a computer to construct a series of cross-sectional scans along a single axis. NCIT:C17204 hp.json CT|computerized axial tomography|CT scan|CAT scan http://purl.obolibrary.org/obo/MAXO_0000571 OBO:MAXO_0000574 biolink:NamedThing medical history taking The process of gathering information regarding a person's medical history. NCIT:C146918 hp.json patient assessment|medical history collection http://purl.obolibrary.org/obo/MAXO_0000574 OBO:MAXO_0000575 biolink:NamedThing patient demographic characteristics assessment Determination if a patient's background or demographic characteristics makes the patient susceptible to disease. hp.json http://purl.obolibrary.org/obo/MAXO_0000575 HP:0032924 biolink:PhenotypicFeature Focal impaired awareness verbal automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset. hp.json http://purl.obolibrary.org/obo/HP_0032924 HP:0007957 biolink:PhenotypicFeature Corneal opacity A reduction of corneal clarity. UMLS:C0521719|MSH:D003318|SNOMEDCT_US:413921009|SNOMEDCT_US:95735008|UMLS:C0010038|SNOMEDCT_US:64634000 hp.json Corneal clouding|Scarring or clouding of the cornea of the eye|Corneal opacities|Reduction of corneal clarity http://purl.obolibrary.org/obo/HP_0007957 hposlim_core HP:0032923 biolink:PhenotypicFeature Focal impaired awareness vocal automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. hp.json http://purl.obolibrary.org/obo/HP_0032923 HP:0007956 biolink:PhenotypicFeature obsolete Bilateral choroid coloboma hp.json http://purl.obolibrary.org/obo/HP_0007956 HP:0032926 biolink:PhenotypicFeature Focal impaired awareness head nodding automatism seizure A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset. hp.json http://purl.obolibrary.org/obo/HP_0032926 HP:0032925 biolink:PhenotypicFeature Focal impaired awareness sexual automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset. hp.json http://purl.obolibrary.org/obo/HP_0032925 HP:0007958 biolink:PhenotypicFeature Optic atrophy from cranial nerve compression UMLS:C4024763 hp.json http://purl.obolibrary.org/obo/HP_0007958 MPATH:596 biolink:NamedThing pathological process The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. hp.json http://purl.obolibrary.org/obo/MPATH_596 HP:0032920 biolink:PhenotypicFeature Focal impaired awareness manual automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset. hp.json http://purl.obolibrary.org/obo/HP_0032920 HP:0032922 biolink:PhenotypicFeature Focal impaired awareness perseverative automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset. hp.json http://purl.obolibrary.org/obo/HP_0032922 MPATH:597 biolink:NamedThing cell and tissue damage process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. hp.json http://purl.obolibrary.org/obo/MPATH_597 HP:0032921 biolink:PhenotypicFeature Focal impaired awareness pedal automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. hp.json http://purl.obolibrary.org/obo/HP_0032921 OBO:MAXO_0000578 biolink:NamedThing patient environmental exposure assessment Determination if the patient may have been exposed to something which would impact the health of the patient. hp.json http://purl.obolibrary.org/obo/MAXO_0000578 OBO:MAXO_0000579 biolink:NamedThing blood gas assessment A test that measures the amount of oxygen and carbon dioxide in the blood. It may also be used to determine the pH of the blood. NCIT:C71252 hp.json blood gas measurement testing|blood gas test|arterial blood gas measurement http://purl.obolibrary.org/obo/MAXO_0000579 MPATH:599 biolink:NamedThing developmental process abnormalities developmental process abnormalities hp.json http://purl.obolibrary.org/obo/MPATH_599 OBO:MAXO_0000576 biolink:NamedThing patient travel risk assessment Determination if patient's travel history may impact current health. hp.json http://purl.obolibrary.org/obo/MAXO_0000576 HP:0007950 biolink:PhenotypicFeature Peripapillary chorioretinal atrophy Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). UMLS:C4024765 hp.json http://purl.obolibrary.org/obo/HP_0007950 OBO:MAXO_0000577 biolink:NamedThing patient travel risk questionnaire A questionnaire designed to determine if patient's travel history may impact current health. hp.json http://purl.obolibrary.org/obo/MAXO_0000577 HP:0032928 biolink:PhenotypicFeature Elevated CSF neurofilamant light chain Definition: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. hp.json http://purl.obolibrary.org/obo/HP_0032928 HP:0032927 biolink:PhenotypicFeature Focal impaired awareness undressing automatism seizure A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset. hp.json http://purl.obolibrary.org/obo/HP_0032927 HP:0032929 biolink:PhenotypicFeature Abnormal chondrocyte morphology Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage. hp.json http://purl.obolibrary.org/obo/HP_0032929 HP:0007928 biolink:PhenotypicFeature Abnormal flash visual evoked potentials Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. UMLS:C4024772 hp.json http://purl.obolibrary.org/obo/HP_0007928 HP:0007929 biolink:PhenotypicFeature Peripheral retinal detachment Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina. UMLS:C4024771 hp.json http://purl.obolibrary.org/obo/HP_0007929 HP:0007924 biolink:PhenotypicFeature Slow decrease in visual acuity UMLS:C3278981|UMLS:C1853141 hp.json Decreased visual acuity, slowly progressive|Subacute deterioration of visual acuity|Slow decrease in sharpness of vision http://purl.obolibrary.org/obo/HP_0007924 HP:0032935 biolink:PhenotypicFeature Posterior crocodile shagreen of the cornea Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin. hp.json http://purl.obolibrary.org/obo/HP_0032935 HP:0007923 biolink:PhenotypicFeature obsolete Foveal hyperplasia hp.json http://purl.obolibrary.org/obo/HP_0007923 HP:0032934 biolink:PhenotypicFeature Spontaneous cerebrospinal fluid leak A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). hp.json http://purl.obolibrary.org/obo/HP_0032934 HP:0032937 biolink:PhenotypicFeature Recurrent, involuntary and intrusive distressing memories After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory. hp.json http://purl.obolibrary.org/obo/HP_0032937 HP:0007925 biolink:PhenotypicFeature Lacrimal duct aplasia A congenital defect resulting in absence of the lacrimal duct. UMLS:C4024773 hp.json Absent tear duct http://purl.obolibrary.org/obo/HP_0007925 HP:0032936 biolink:PhenotypicFeature Intrusion symptom Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context. hp.json Re-experiencing symptom http://purl.obolibrary.org/obo/HP_0032936 HP:0032931 biolink:PhenotypicFeature obsolete Focal impaired awareness cognitive seizure with impaired attention hp.json http://purl.obolibrary.org/obo/HP_0032931 HP:0007920 biolink:PhenotypicFeature obsolete Congenital chorioretinal dystrophy hp.json http://purl.obolibrary.org/obo/HP_0007920 HP:0032930 biolink:PhenotypicFeature Lacunar halos around chondrocytes Concentric rings around the chondrocytes. hp.json http://purl.obolibrary.org/obo/HP_0032930 HP:0007922 biolink:PhenotypicFeature Hypermyelinated retinal nerve fibers UMLS:C1849151 hp.json Retinal striation|Hypermyelinated retinal nerve fibres http://purl.obolibrary.org/obo/HP_0007922 HP:0032933 biolink:PhenotypicFeature Airway hyperresponsiveness An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist. hp.json http://purl.obolibrary.org/obo/HP_0032933 HP:0032932 biolink:PhenotypicFeature Increased circulating pancreatic triacylglycerol lipase level An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma). hp.json Elevated circulating pancreatic triacylglycerol lipase activity http://purl.obolibrary.org/obo/HP_0032932 NCBITaxon:33630 biolink:OrganismalEntity Alveolata GC_ID:1 hp.json alveolates http://purl.obolibrary.org/obo/NCBITaxon_33630 HP:0032939 biolink:PhenotypicFeature Physiological reactivity to cues Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s). hp.json http://purl.obolibrary.org/obo/HP_0032939 HP:0032938 biolink:PhenotypicFeature Recurrent trauma-related distressing dreams Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events. hp.json http://purl.obolibrary.org/obo/HP_0032938 OBO:MAXO_0000592 biolink:NamedThing clinical RNA detection testing A technique that detects a particular RNA sequence in order to identify a pathogen (organism or virus) in blood, tissue, urine, or other bodily fluids. hp.json RNA detection procedure|RNA detection examination|RNA detection testing|RNA detection kit testing http://purl.obolibrary.org/obo/MAXO_0000592 OBO:MAXO_0000593 biolink:NamedThing clinical real-time PCR testing A clinical assay that amplifies and quantifies a specific DNA molecule based on in tissue, blood, sputum, urine, or any other bodily fluid to detect the presence of a pathogen. It enables both detection and quantification of one or more specific sequences in a DNA sample. OBI:0000893|NCIT:C51962 hp.json clinical qPCR testing|clinical real-time RT-PCR procedure|real-time PCR procedure for clinical use http://purl.obolibrary.org/obo/MAXO_0000593 UBERON:0015482 biolink:AnatomicalEntity right hepatic artery A hepatic artery that is part of a right lobe of liver. FMA:14778|MA:0003097|EMAPA:37376 hp.json ramus dexter (arteria hepatica propria)|right branch of hepatic artery proper|right part of hepatic artery proper http://purl.obolibrary.org/obo/UBERON_0015482 human_reference_atlas OBO:MAXO_0000590 biolink:NamedThing loop-mediated isothermal amplification testing A type of nucleic acid amplification test in which sample DNA is exposed to a single temperature in the presence of multiple sets of primers and a polymerase with replication and high strand displacement activity. This test negates the need for thermal cyclers and may be a low cost alternative to PCR. NCIT:C102661 hp.json loop-mediated isothermal amplification procedure http://purl.obolibrary.org/obo/MAXO_0000590 UBERON:0015485 biolink:AnatomicalEntity choledocho-duodenal junction Hat part of the duodenal wall traversed by the ductus choledochus, ductus pancreaticus, and ampulla. MA:0003108|EMAPA:37478 hp.json choledochoduodenal junction http://purl.obolibrary.org/obo/UBERON_0015485 OBO:MAXO_0000591 biolink:NamedThing clinical DNA detection testing A technique that detects a particular DNA sequence in order to identify a pathogen (organism or virus) in blood, tissue, urine, or other bodily fluids. hp.json DNA detection procedure|DNA detection examination|DNA detection testing|DNA detection kit testing http://purl.obolibrary.org/obo/MAXO_0000591 OBO:MAXO_0000596 biolink:NamedThing infectious disease screening The process of taking a thorough history and physical exam to determine if a patient has been exposed to an infectious disease. Close attention is paid to travel history, environmental exposures, and vaccination history. hp.json infectious disease testing http://purl.obolibrary.org/obo/MAXO_0000596 UBERON:0015481 biolink:AnatomicalEntity left hepatic artery A hepatic artery that is part of a left lobe of liver. EMAPA:37096|FMA:14779|MA:0003096 hp.json ramus sinister (arteria hepatica propria)|left part of hepatic artery proper|left branch of hepatic artery http://purl.obolibrary.org/obo/UBERON_0015481 human_reference_atlas OBO:MAXO_0000594 biolink:NamedThing clinical quantitative reverse transcription PCR testing A method to measure very small amounts of RNA transcripts as cDNA targets from tissue, blood, sputum or other body fluids. NCIT:C28408|OBI:0000911 hp.json clinical quantitative RT-PCR testing|clinical quantitative reverse transcription PCR procedure|clinical quantitative RT-PCR procedure http://purl.obolibrary.org/obo/MAXO_0000594 UBERON:0015480 biolink:AnatomicalEntity proper hepatic artery The hepatic artery proper (also proper hepatic artery), arises from the common hepatic artery and runs alongside the portal vein and the common bile duct to form the portal triad. The hepatic artery proper gives off a small supraduodenal artery to the duodenal bulb. Then the right gastric artery comes off and runs to the left along the lesser curvature of the stomach to meet the left gastric artery, which is a branch of the celiac trunk. It subsequently gives off the cystic artery, which feeds the gallbladder, before bifurcating into the right and left hepatic arteries. Of note, the right and left hepatic arteries may demonstrate variant anatomy. A replaced right hepatic artery may arise from the superior mesenteric artery (SMA) and a replaced left hepatic artery may arise from the left gastric artery. FMA:14772|EMAPA:37217|MA:0003095 hp.json proper hepatic|hepatic artery proper http://purl.obolibrary.org/obo/UBERON_0015480 human_reference_atlas OBO:MAXO_0000595 biolink:NamedThing radiograph imaging procedure A procedure producing an image on a radiosensitive surface by x-ray radiation that has penetrated and passed through a structure in order to diagnose or treat a patient. NCIT:C60727|NCIT:C38101 hp.json radiography imaging procedure|X-ray imaging procedure|radiographic procedure|radiogram imaging procedure|radiographic imaging procedure|radiography http://purl.obolibrary.org/obo/MAXO_0000595 HP:0032940 biolink:PhenotypicFeature Dissociative reaction A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration. hp.json http://purl.obolibrary.org/obo/HP_0032940 HP:0007939 biolink:PhenotypicFeature Blue cone monochromacy A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. MSH:C536238|UMLS:C0339537|SNOMEDCT_US:24704003 hp.json Blue cone monochromatism|Incomplete achromatopsia|S-cone monochromacy http://purl.obolibrary.org/obo/HP_0007939 HP:0032946 biolink:PhenotypicFeature Renal cortical interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. hp.json http://purl.obolibrary.org/obo/HP_0032946 HP:0007935 biolink:PhenotypicFeature Juvenile posterior subcapsular lenticular opacities UMLS:C1863408 hp.json http://purl.obolibrary.org/obo/HP_0007935 HP:0032945 biolink:PhenotypicFeature Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. hp.json http://purl.obolibrary.org/obo/HP_0032945 HP:0007937 biolink:PhenotypicFeature Reticular pigmentary degeneration A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus. UMLS:C4024769 hp.json Honeycomb retinal degeneration|Fishnet retinal pigmentation http://purl.obolibrary.org/obo/HP_0007937 HP:0032948 biolink:PhenotypicFeature Renal interstitial fibrosis The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. hp.json http://purl.obolibrary.org/obo/HP_0032948 HP:0007936 biolink:PhenotypicFeature Restrictive external ophthalmoplegia Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. UMLS:C4020806|UMLS:C1865918 hp.json Restrictive external ophthalmoplegia, bilateral|Restrictive ophthalmoplegia http://purl.obolibrary.org/obo/HP_0007936 HP:0032947 biolink:PhenotypicFeature Renal medullary interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. hp.json http://purl.obolibrary.org/obo/HP_0032947 HP:0032942 biolink:PhenotypicFeature Avoidance of stimuli associated with traumatic event Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). hp.json http://purl.obolibrary.org/obo/HP_0032942 MPATH:574 biolink:NamedThing nephroblastomatosis Persistence of metanephrogenic blastema or its presence in the wrong place or at the wrong time. Associated with hyperplastic nephrogenic rests. hp.json http://purl.obolibrary.org/obo/MPATH_574 HP:0032941 biolink:PhenotypicFeature Intense psychological distress to cues Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. hp.json http://purl.obolibrary.org/obo/HP_0032941 HP:0007930 biolink:PhenotypicFeature obsolete Prominent epicanthal folds hp.json http://purl.obolibrary.org/obo/HP_0007930 HP:0007933 biolink:PhenotypicFeature Broad lateral eyebrow Regional increase in the width (height) of the lateral eyebrow. UMLS:C1837733 hp.json Wide lateral eyebrow http://purl.obolibrary.org/obo/HP_0007933 HP:0032944 biolink:PhenotypicFeature Alkaline urine Urine pH of 8 or higher. hp.json http://purl.obolibrary.org/obo/HP_0032944 HP:0007932 biolink:PhenotypicFeature Bilateral congenital mydriasis Congenital abnormal dilation of the pupil on both sides. UMLS:C4024770 hp.json http://purl.obolibrary.org/obo/HP_0007932 HP:0032943 biolink:PhenotypicFeature Abnormal urine pH A deviation of urine pH from the normal range of 4.5 to 7.8. hp.json http://purl.obolibrary.org/obo/HP_0032943 MPATH:579 biolink:NamedThing ulcer Loss of epithelium and the basement membrane (full thickness). Cf Erosion. hp.json http://purl.obolibrary.org/obo/MPATH_579 HP:0032949 biolink:PhenotypicFeature Renal interstitial calcium phosphate deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. hp.json http://purl.obolibrary.org/obo/HP_0032949 OBO:MAXO_0000541 biolink:NamedThing quad test assessment A screening measurement in which the maternal blood levels of alpha-fetoprotein, unconjugated estriol, human chorionic gonadotrophin and Inhibin A are calculated. These are then evaluated in relation to the mother's age, weight and fetal gestational age. NCIT:C92865 hp.json quad screen|quadruple marker testing http://purl.obolibrary.org/obo/MAXO_0000541 OBO:MAXO_0000540 biolink:NamedThing nuchal translucency screening An ultrasonic examination of the fetus in the late first trimester to measure the clear space at the back of the fetal neck to assess risk of genetic or cardiac abnormalities. NCIT:C92837 hp.json ultrasonographic nuchal translucency exam|NT testing|nuchal translucency ultrasound screening http://purl.obolibrary.org/obo/MAXO_0000540 HP:0005327 biolink:PhenotypicFeature Loss of facial expression UMLS:C1852476 hp.json Loss of facial expression http://purl.obolibrary.org/obo/HP_0005327 HP:0005328 biolink:PhenotypicFeature Progeroid facial appearance A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. UMLS:C1857710 hp.json Prematurely aged facial appearance|Premature aged appearance|Prematurely aged face|Wizened face|Aged facial appearance http://purl.obolibrary.org/obo/HP_0005328 HP:0007989 biolink:PhenotypicFeature Intraretinal exudate Retinal exudate within the retinal tissue itself. UMLS:C4024758 hp.json http://purl.obolibrary.org/obo/HP_0007989 HP:0005329 biolink:PhenotypicFeature Fixed facial expression UMLS:C1855353 hp.json Fixed facial expression|Unchanging facial expression http://purl.obolibrary.org/obo/HP_0005329 HP:0005323 biolink:PhenotypicFeature Hemifacial hypertrophy Unilateral overgrowth of facial tissues, including muscles, bones and skin. UMLS:C0016719|SNOMEDCT_US:697962004|MSH:C563014|MSH:D005621|SNOMEDCT_US:10394003|UMLS:C1399354 hp.json Hypertrophy of half of face|Overgrowth of half of face|Facial hemihypertophy|Hemifacial enlargement|Friedreich's disease|Facial hemihyperplasia|Enlargement of half of face|Increase in size of half of face http://purl.obolibrary.org/obo/HP_0005323 hposlim_core HP:0007986 biolink:PhenotypicFeature Increased retinal vascularity UMLS:C1847882 hp.json http://purl.obolibrary.org/obo/HP_0007986 HP:0007985 biolink:PhenotypicFeature Retinal arteriolar occlusion Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. UMLS:C4024761 hp.json Blocked retinal artery http://purl.obolibrary.org/obo/HP_0007985 HP:0005324 biolink:PhenotypicFeature Disturbance of facial expression An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. UMLS:C4025215 hp.json Disturbance of facial expression http://purl.obolibrary.org/obo/HP_0005324 HP:0007988 biolink:PhenotypicFeature Macular hypopigmentation Decreased amount of pigmentation in the macula lutea. UMLS:C4024759 hp.json http://purl.obolibrary.org/obo/HP_0007988 HP:0005325 biolink:PhenotypicFeature Extension of hair growth on temples to lateral eyebrow A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows. UMLS:C1857455 hp.json Unusual hairline with hair growth on temples extending to lateral eyebrow http://purl.obolibrary.org/obo/HP_0005325 HP:0005326 biolink:PhenotypicFeature Hypoplastic philtrum Underdevelopment of the philtrum. UMLS:C1856886 hp.json Small philtrum http://purl.obolibrary.org/obo/HP_0005326 HP:0007987 biolink:PhenotypicFeature Progressive visual field defects UMLS:C4024760 hp.json http://purl.obolibrary.org/obo/HP_0007987 OBO:MAXO_0000545 biolink:NamedThing basophil count The determination of the absolute number of basophils in a blood sample. NCIT:C64470 hp.json basophil cell count|total basophil count http://purl.obolibrary.org/obo/MAXO_0000545 HP:0007982 biolink:PhenotypicFeature obsolete Central tapetoretinal dystrophy hp.json http://purl.obolibrary.org/obo/HP_0007982 OBO:MAXO_0000546 biolink:NamedThing lymphocyte count The determination of the number of lymphocytes in a blood sample. NCIT:C51949 hp.json http://purl.obolibrary.org/obo/MAXO_0000546 HP:0005320 biolink:PhenotypicFeature Lack of facial subcutaneous fat UMLS:C3277426 hp.json Lack of facial fat below the skin http://purl.obolibrary.org/obo/HP_0005320 HP:0007981 biolink:PhenotypicFeature obsolete Concentric narrowing of visual field hp.json http://purl.obolibrary.org/obo/HP_0007981 OBO:MAXO_0000543 biolink:NamedThing eosinophil count The determination of the number of eosinophils in a blood sample. NCIT:C64550 hp.json EOS cell count http://purl.obolibrary.org/obo/MAXO_0000543 HP:0007984 biolink:PhenotypicFeature Electronegative electroretinogram A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3). UMLS:C4021561 hp.json Reduced electroretinogram rod b-wave|Reduced amplitude of dark-adapted bright flash electroretinogram b-wave|Electroretinogram: reduced b-wave amplitude|Reduced ERG amplitude of b-wave|Electronegative ERG http://purl.obolibrary.org/obo/HP_0007984 HP:0005321 biolink:PhenotypicFeature Mandibulofacial dysostosis A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. SNOMEDCT_US:82203000|UMLS:C0242387|MSH:D008342 hp.json Treacher Collins syndrome http://purl.obolibrary.org/obo/HP_0005321 HP:0005322 biolink:PhenotypicFeature Prominent nasal septum UMLS:C4025216|UMLS:C4280490|UMLS:C4280489 hp.json Visible septum of nose|Low hanging septum of nose|Prominent nasal septum|Visible nasal septum|Low hanging nasal septum|Prominent septum of nose http://purl.obolibrary.org/obo/HP_0005322 OBO:MAXO_0000544 biolink:NamedThing granulocyte count The determination of the amount of granulocytes present in a sample. NCIT:C96654 hp.json polymorphonuclear leukocyte count http://purl.obolibrary.org/obo/MAXO_0000544 OBO:MAXO_0000549 biolink:NamedThing self body temperature measurement Measuring a person's own body temperature usually at home using any of a number of types of thermometers. hp.json self-reported fever measurement|self-reported temperature measurement|at home temperature measurement http://purl.obolibrary.org/obo/MAXO_0000549 OBO:MAXO_0000547 biolink:NamedThing clinical biospecimen collection A procedure by which biological material is obtained from a subject for testing, diagnostic, treatment, or research purposes. NCIT:C70700 hp.json clinical specimen collection http://purl.obolibrary.org/obo/MAXO_0000547 HP:0007980 biolink:PhenotypicFeature Absent retinal pigment epithelium UMLS:C1852548 hp.json http://purl.obolibrary.org/obo/HP_0007980 NCBITaxon:33682 biolink:OrganismalEntity Euglenozoa GC_ID:1 hp.json Euglenozoans http://purl.obolibrary.org/obo/NCBITaxon_33682 OBO:MAXO_0000530 biolink:NamedThing genetic carrier screening A genetic test to whether a healthy person harbors a recessive mutation in one of their copies of a gene or genes. hp.json carrier screening http://purl.obolibrary.org/obo/MAXO_0000530 OBO:MAXO_0000531 biolink:NamedThing noninvasive prenatal testing A test that analyzes small fragments of DNA that are circulating in a pregnant woman’s blood to determine the risk that the fetus will be born with genetic abnormalities. hp.json NIPT|cell free fetal DNA testing|noninvasive prenatal screening http://purl.obolibrary.org/obo/MAXO_0000531 HP:0005338 biolink:PhenotypicFeature Sparse lateral eyebrow Decreased density/number and/or decreased diameter of lateral eyebrow hairs. UMLS:C1857206 hp.json Laterally sparse eyebrow|Lateral hypoplasia of eyebrows|Sparse lateral eyebrows|Laterally sparse eyebrows|Lateral thinning of eyebrows|Limited hair on end of eyebrow http://purl.obolibrary.org/obo/HP_0005338 hposlim_core HP:0005339 biolink:PhenotypicFeature Abnormality of complement system An abnormality of the complement system. UMLS:C4025213 hp.json http://purl.obolibrary.org/obo/HP_0005339 HP:0005335 biolink:PhenotypicFeature Sleepy facial expression UMLS:C4025214 hp.json Sleepy facial expression|Somnolent facial expression http://purl.obolibrary.org/obo/HP_0005335 HP:0005336 biolink:PhenotypicFeature Forehead hyperpigmentation UMLS:C1969673 hp.json Darkening of the forehead http://purl.obolibrary.org/obo/HP_0005336 HP:0007993 biolink:PhenotypicFeature Malformed lacrimal duct Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. UMLS:C4024757 hp.json Malformed tear ducts http://purl.obolibrary.org/obo/HP_0007993 MPATH:556 biolink:NamedThing potentially cancerous lesions Lesions which in some cases have the potential to become progressively growing malignant tumors. hp.json http://purl.obolibrary.org/obo/MPATH_556 OBO:MAXO_0000534 biolink:NamedThing amniocentisis A prenatal diagnostic procedure in which a small sample of amniotic fluid is removed from the uterus by a needle inserted into the abdomen. This procedure is used to detect various genetic abnormalities in the fetus and/or the sex of the fetus. NCIT:C52009 hp.json http://purl.obolibrary.org/obo/MAXO_0000534 MPATH:555 biolink:NamedThing mineralisation Deposition of any homogeneous inorganic material. hp.json http://purl.obolibrary.org/obo/MPATH_555 HP:0007992 biolink:PhenotypicFeature Lattice retinal degeneration SNOMEDCT_US:3577000|UMLS:C0154856 hp.json http://purl.obolibrary.org/obo/HP_0007992 HP:0005332 biolink:PhenotypicFeature Recurrent mandibular subluxations Recurrent partial dislocations of the mandible. UMLS:C1857011 hp.json http://purl.obolibrary.org/obo/HP_0005332 HP:0007994 biolink:PhenotypicFeature Peripheral visual field loss Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. UMLS:C0241688|SNOMEDCT_US:420990001|UMLS:C2937228 hp.json Tunnel vision|Loss of peripheral vision|Kalnienk vision http://purl.obolibrary.org/obo/HP_0007994 OBO:MAXO_0000533 biolink:NamedThing molecular genetic testing A diverse set of techniques used to identify the molecular basis of genetic disease. Examples of molecular genetic tests include: genotyping to detect specific pathogenic variants; sequencing of a gene to detect pathogenic variants; amplification or hybridization methods (e.g., qPCR, array CGH, MLPA) to detect copy number variants involving one or more genes; methylation-specific techniques to detect epigenetic changes that influence gene expression; and exome and genome sequencing. hp.json http://purl.obolibrary.org/obo/MAXO_0000533 OBO:MAXO_0000538 biolink:NamedThing fetal fibronectin testing A test for the presence of fetal fibronectin in the cervico-vaginal area that is used to predict preterm birth. NCIT:C92786 hp.json FBNCTFT|fFN testing|fetal fibronectin assessment http://purl.obolibrary.org/obo/MAXO_0000538 OBO:MAXO_0000539 biolink:NamedThing prenatal group B streptococcus screening Screening with a swab from the vaginal and rectal areas in late pregnancy to test for the presence of Group B streptococcal infection. NCIT:C92805 hp.json beta-hemolytic strep culture screening|GBS|group B strep screening|broup B Beta-hemolytic streptococcus screening http://purl.obolibrary.org/obo/MAXO_0000539 OBO:MAXO_0000536 biolink:NamedThing chorionic villus sampling A prenatal test in which a sample of chorionic villi is removed from the placenta for testing. The sample can be taken through the cervix (transcervical) or the abdominal wall (transabdominal). Mayo Clinic NCIT:C92755 hp.json CVS|chorionic villus biopsy http://purl.obolibrary.org/obo/MAXO_0000536 OBO:MAXO_0000537 biolink:NamedThing bacterial vaginosis screening A procedure conducted during pregnancy for the presence of Gardnerella vaginalis, Ureaplasma urealyticum, Mycoplasma hominis, Mobiluncus, Prevotella and anaerobic bacteria. NCIT:C92740 hp.json BV testing http://purl.obolibrary.org/obo/MAXO_0000537 HP:0007990 biolink:PhenotypicFeature Hypoplastic iris stroma Underdevelopment of the stroma of iris. UMLS:C1860344 hp.json Underdeveloped iris stroma|Iris stromal hypoplasia|Hypoplastic iris stoma http://purl.obolibrary.org/obo/HP_0007990 OBO:MAXO_0000560 biolink:NamedThing interferon-gamma biomarker measurement Detection of interferon-gamma, a cytokine that indicates an inflammatory response. hp.json INF-gamma levels testing|INF-gamma assessment http://purl.obolibrary.org/obo/MAXO_0000560 OBO:MAXO_0000563 biolink:NamedThing Interleukin-10 biomarker measurement Detection of interleukin-10, a cytokine identified as an inflammation suppressant. hp.json IL-10 measurement|IL10 assessment|IL-10 testing http://purl.obolibrary.org/obo/MAXO_0000563 OBO:MAXO_0000564 biolink:NamedThing tumor necrosis factor-beta biomarker measurement Detection of tumor necrosis factor-beta (TNF-beta), a cytokine identified as an inflammation suppressant. hp.json TNFbeta assessment|TNF-beta testing|TNF-beta measurement http://purl.obolibrary.org/obo/MAXO_0000564 OBO:MAXO_0000561 biolink:NamedThing interleukin-4 biomarker measurement Detection of interleukin-4, a cytokine identified as an inflammation suppressant. hp.json IL-4 measurement|IL4 assessment|IL-4 testing http://purl.obolibrary.org/obo/MAXO_0000561 OBO:MAXO_0000562 biolink:NamedThing interleukin-5 biomarker measurement Detection of interleukin-5, a cytokine identified as an inflammation suppressant. hp.json IL5 assessment|IL-5 testing|IL-5 measurement http://purl.obolibrary.org/obo/MAXO_0000562 HP:0005309 biolink:PhenotypicFeature obsolete Peripheral vascular insufficiency hp.json http://purl.obolibrary.org/obo/HP_0005309 HP:0007968 biolink:PhenotypicFeature Remnants of the hyaloid vascular system Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. MSH:D054514|SNOMEDCT_US:44647001|UMLS:C0266568|SNOMEDCT_US:69927002|SNOMEDCT_US:314270008 hp.json Persistent hyperplastic primary vitreous|Persistent hyperplasia of primary vitreous|Congenital retinal septum|Persistent hypertrophic primary vitreous|Persistent posterior fetal fibrovascular sheath of the lens|Persistent fetal vasculature|Persistent posterior foetal fibrovascular sheath of the lens|Persistent foetal vasculature|Persistent tunica vasculosa lentis http://purl.obolibrary.org/obo/HP_0007968 hposlim_core HP:0005305 biolink:PhenotypicFeature Cerebral venous thrombosis Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. SNOMEDCT_US:95455008|UMLS:C0151945 hp.json Cerebral thrombosis|Cerebral vein thrombosis|Blood clot in cerebral vein http://purl.obolibrary.org/obo/HP_0005305 HP:0005306 biolink:PhenotypicFeature Capillary hemangioma The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. UMLS:C0206733|SNOMEDCT_US:254206003|SNOMEDCT_US:56975005|SNOMEDCT_US:83343001|SNOMEDCT_US:195382003|SNOMEDCT_US:402867006|MSH:D018324 hp.json Strawberry birthmark|Capillary hemangiomata http://purl.obolibrary.org/obo/HP_0005306 hposlim_core HP:0005307 biolink:PhenotypicFeature Postural hypotension with compensatory tachycardia UMLS:C1850438 hp.json http://purl.obolibrary.org/obo/HP_0005307 HP:0005308 biolink:PhenotypicFeature Pulmonary artery vasoconstriction UMLS:C1867424 hp.json http://purl.obolibrary.org/obo/HP_0005308 HP:0007964 biolink:PhenotypicFeature Degenerative vitreoretinopathy UMLS:C1843486 hp.json http://purl.obolibrary.org/obo/HP_0007964 HP:0005301 biolink:PhenotypicFeature Persistent left superior vena cava A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. SNOMEDCT_US:77978002|UMLS:C0265931 hp.json PLSVC http://purl.obolibrary.org/obo/HP_0005301 HP:0005302 biolink:PhenotypicFeature Carotid artery tortuosity Abnormal tortuous (i.e., twisted) form of the carotid arteries. SNOMEDCT_US:401051003|UMLS:C1303076 hp.json Tortuous carotid arteries http://purl.obolibrary.org/obo/HP_0005302 HP:0007963 biolink:PhenotypicFeature Pattern dystrophy of the retina A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation). UMLS:C4024762 hp.json http://purl.obolibrary.org/obo/HP_0007963 HP:0005303 biolink:PhenotypicFeature Aortic arch calcification Calcification, that is, pathological deposition of calcium salts in the arch of aorta. UMLS:C1969291 hp.json http://purl.obolibrary.org/obo/HP_0005303 HP:0007965 biolink:PhenotypicFeature Undetectable visual evoked potentials UMLS:C1850069 hp.json Undetectable VEP|Absence of visual evoked potentials|Non-detectable VEP http://purl.obolibrary.org/obo/HP_0007965 HP:0005304 biolink:PhenotypicFeature Hypoplastic pulmonary veins UMLS:C1970501 hp.json Underdeveloped lung veins http://purl.obolibrary.org/obo/HP_0005304 OBO:MAXO_0000567 biolink:NamedThing blood glucose assessment A quantitative measurement for assessing the amount of glucose present in a blood sample. NCIT:C92744 hp.json blood glucose testing|blood glucose measurement|blood surgar testing http://purl.obolibrary.org/obo/MAXO_0000567 OBO:MAXO_0000568 biolink:NamedThing plasma glucose assessment Glucose Plasma Concentration (GPC) measurement is an essential diagnostic modality for different types of carbohydrate metabolism derangements including diabetes mellitus. NCIT:C41376 hp.json plasma glucose measurement http://purl.obolibrary.org/obo/MAXO_0000568 OBO:MAXO_0000565 biolink:NamedThing serum amyloid A biomarker assessment Detection of serum levels of amyloid A (SAA) in response to inflammation. hp.json SAA biomarker measurement http://purl.obolibrary.org/obo/MAXO_0000565 HP:0007962 biolink:PhenotypicFeature Speckled corneal dystrophy UMLS:C4021857 hp.json http://purl.obolibrary.org/obo/HP_0007962 OBO:MAXO_0000566 biolink:NamedThing clinical chemistry assessment A clinical laboratory procedure designed for the quantification of an organic or inorganic chemical within a biological specimen required for diagnostics or monitoring of treatments. NCIT:C49237 hp.json clinical chemistry testing|clinical chemistry measurement testing|clincal chemistry test http://purl.obolibrary.org/obo/MAXO_0000566 HP:0005300 biolink:PhenotypicFeature Nodular inflammatory vasculitis UMLS:C4025219 hp.json http://purl.obolibrary.org/obo/HP_0005300 HP:0007961 biolink:PhenotypicFeature obsolete Rarefaction of retinal pigmentation hp.json http://purl.obolibrary.org/obo/HP_0007961 OBO:MAXO_0000569 biolink:NamedThing fasting blood glucose assessment A quantitative measurement of the amount of glucose present in a sample of blood, obtained from a source that has abstained from nutrition, typically at least 8 hours prior to the sample collection time. NCIT:C80400 hp.json FBS measurement|fasting blood sugar measurement testing|fasting blood glucose measurement http://purl.obolibrary.org/obo/MAXO_0000569 OBO:MAXO_0000552 biolink:NamedThing interleukin-6 biomarker measurement Detection of circultating interleukin-6, which stimulates the inflammatory and auto-immune processes in many diseases. hp.json IL-6 measurement|IL-6 level assessment http://purl.obolibrary.org/obo/MAXO_0000552 OBO:MAXO_0000553 biolink:NamedThing cytokine biomarker assessment A chemokine that can be objectively measured and serves as an indicator for the inflammatory response. hp.json cytokine biomarker measurement http://purl.obolibrary.org/obo/MAXO_0000553 OBO:MAXO_0000550 biolink:NamedThing inflammatory biomarker assessment A characteristic that can be objectively measured and serves as an indicator for the inflammatory response. It could be used to indicate the normal inflammatory processes, pathogenic processes, state of health or disease, the risk for disease development and/or prognosis, or responsiveness to a particular therapeutic intervention. hp.json inflammatory biomarker measurement http://purl.obolibrary.org/obo/MAXO_0000550 OBO:MAXO_0000551 biolink:NamedThing C-reactive protein biomarker assessment Assay based assessment of a serum sample for detection and concentration (mg/L) C-reactive protein. hp.json CRP measurement http://purl.obolibrary.org/obo/MAXO_0000551 HP:0007979 biolink:PhenotypicFeature Gaze-evoked horizontal nystagmus Horizontal nystagmus made apparent by looking to the right or to the left. UMLS:C1853394 hp.json Nystagmus, horizontal gaze-evoked|Nystagmus, horizontal, gaze-evoked http://purl.obolibrary.org/obo/HP_0007979 HP:0032902 biolink:PhenotypicFeature Focal perseverative automatism seizure A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset. hp.json http://purl.obolibrary.org/obo/HP_0032902 HP:0005316 biolink:PhenotypicFeature Peripheral pulmonary vessel aplasia UMLS:C1848877 hp.json http://purl.obolibrary.org/obo/HP_0005316 HP:0005317 biolink:PhenotypicFeature Increased pulmonary vascular resistance Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. UMLS:C1867423 hp.json http://purl.obolibrary.org/obo/HP_0005317 HP:0032901 biolink:PhenotypicFeature Focal pedal automatism seizure A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. hp.json http://purl.obolibrary.org/obo/HP_0032901 HP:0005318 biolink:PhenotypicFeature Cerebral vasculitis Inflammation of the blood vessels within the brain. UMLS:C0238051|SNOMEDCT_US:427020007|MSH:D020293 hp.json http://purl.obolibrary.org/obo/HP_0005318 HP:0032904 biolink:PhenotypicFeature Focal verbal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset. hp.json http://purl.obolibrary.org/obo/HP_0032904 HP:0032903 biolink:PhenotypicFeature Focal vocal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. hp.json http://purl.obolibrary.org/obo/HP_0032903 HP:0007975 biolink:PhenotypicFeature Hypometric horizontal saccades Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. UMLS:C1856478 hp.json http://purl.obolibrary.org/obo/HP_0007975 HP:0005312 biolink:PhenotypicFeature Pulmonary aterial intimal fibrosis Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. UMLS:C4025217 hp.json http://purl.obolibrary.org/obo/HP_0005312 HP:0005313 biolink:PhenotypicFeature Arterial fibromuscular dysplasia An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer. SNOMEDCT_US:31653004|SNOMEDCT_US:359553002|UMLS:C0016052|MSH:D005352 hp.json http://purl.obolibrary.org/obo/HP_0005313 HP:0032900 biolink:PhenotypicFeature Focal manual automatism seizure A type of focal automatism seizure characterized by manual automatisms at onset. hp.json http://purl.obolibrary.org/obo/HP_0032900 HP:0005314 biolink:PhenotypicFeature Anomalous branches of internal carotid artery UMLS:C1847886 hp.json http://purl.obolibrary.org/obo/HP_0005314 HP:0005315 biolink:PhenotypicFeature obsolete Peripheral artery occlusive disease hp.json http://purl.obolibrary.org/obo/HP_0005315 HP:0007976 biolink:PhenotypicFeature Cerulean cataract Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. SNOMEDCT_US:204138006|MSH:C537955|UMLS:C0344523 hp.json Cataracts, congenital, cerulean http://purl.obolibrary.org/obo/HP_0007976 HP:0007971 biolink:PhenotypicFeature Lamellar cataract A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. UMLS:C0266537|SNOMEDCT_US:21590003|SNOMEDCT_US:204128001 hp.json http://purl.obolibrary.org/obo/HP_0007971 OBO:MAXO_0000556 biolink:NamedThing interleukin-2 biomarker measurement Detection of interleukin-2, a mediator of inflammatory response. hp.json IL-2 testing|IL-2 level assessment http://purl.obolibrary.org/obo/MAXO_0000556 HP:0032909 biolink:PhenotypicFeature Focal impaired awareness automatism seizure A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure. hp.json http://purl.obolibrary.org/obo/HP_0032909 OBO:MAXO_0000557 biolink:NamedThing interleukin-8 biomarker measurement Detection of interleukin-8 levels, a mediator of inflammatory response. hp.json IL-8 level assessment|IL-8 testing http://purl.obolibrary.org/obo/MAXO_0000557 HP:0007970 biolink:PhenotypicFeature Congenital ptosis SNOMEDCT_US:61989004|SNOMEDCT_US:268163008|UMLS:C0266573 hp.json Congenital drooping upper eyelid http://purl.obolibrary.org/obo/HP_0007970 OBO:MAXO_0000554 biolink:NamedThing interleukin-1 beta biomarker measurement Detection of interleukin-1 beta levels, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response. hp.json IL-1 beta assessment http://purl.obolibrary.org/obo/MAXO_0000554 HP:0007973 biolink:PhenotypicFeature Retinal dysplasia The presence of developmental dysplasia of the retina. SNOMEDCT_US:95494009|UMLS:C0035313|MSH:D015792 hp.json Retinal dysgenesis http://purl.obolibrary.org/obo/HP_0007973 hposlim_core HP:0005310 biolink:PhenotypicFeature Large vessel vasculitis A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. UMLS:C4025218 hp.json http://purl.obolibrary.org/obo/HP_0005310 HP:0005311 biolink:PhenotypicFeature Agenesis of pulmonary vessels A developmental defect characterized by the lack of formation of the pulmonary blood vessels. UMLS:C1970630 hp.json Absent lung vessels http://purl.obolibrary.org/obo/HP_0005311 OBO:MAXO_0000555 biolink:NamedThing interleukin-1 alpha biomarker measurement Detection of interleukin-1 alpha, a mediator of the inflammatory response. hp.json IL-1 alpha testing|IL-1 alpha assessment http://purl.obolibrary.org/obo/MAXO_0000555 HP:0032906 biolink:PhenotypicFeature Focal head nodding automatism seizure A type of focal automatism seizure characterized by involuntary head nodding at onset. hp.json http://purl.obolibrary.org/obo/HP_0032906 HP:0032905 biolink:PhenotypicFeature Focal sexual automatism seizure A type of focal automatism seizure characterized by involuntary sexual behavior at onset. hp.json http://purl.obolibrary.org/obo/HP_0032905 OBO:MAXO_0000558 biolink:NamedThing interleukin-12 biomarker measurement Detection of interleukin-12 levels, an inflammatory cytokine. hp.json IL-12 assessment|IL-12 level testing http://purl.obolibrary.org/obo/MAXO_0000558 HP:0032908 biolink:PhenotypicFeature Focal aware undressing automatism seizure A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0032908 OBO:MAXO_0000559 biolink:NamedThing tumor necrosis factor-alpha biomarker measurement Detection of TNF-alpha levels, a cytokine involved in systemic inflammation. hp.json TNF-alpha assessment|TNF-alpha level testing http://purl.obolibrary.org/obo/MAXO_0000559 HP:0032907 biolink:PhenotypicFeature Focal undressing automatism seizure A type of focal automatism seizure characterized by involuntary undressing at onset. hp.json http://purl.obolibrary.org/obo/HP_0032907 CHEBI:48854 biolink:ChemicalSubstance sulfurous acid Gmelin:1458|UM-BBD_compID:c0348|KNApSAcK:C00019662|KEGG:C00094|CAS:7782-99-2|PDBeChem:SO3 hp.json acide sulfureux|Sulfite|Sulfurous acid|acido sulfuroso|sulphurous acid|dihydrogen trioxosulfate|trioxosulfuric acid|dihydroxidooxidosulfur|H2SO3|S(O)(OH)2|[SO(OH)2]|schweflige Saeure|sulfurous acid http://purl.obolibrary.org/obo/CHEBI_48854 3_STAR CHEBI:22221 biolink:ChemicalSubstance acyl group An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids. hp.json groupe acyle|alkanoyl|alkanoyl group|acyl groups|acyl group http://purl.obolibrary.org/obo/CHEBI_22221 3_STAR UBERON:0003449 biolink:AnatomicalEntity tail intervertebral disc An intervertebral disk that is part of a tail [Automatically generated definition]. EMAPA:19592|MA:0000698 hp.json intervertebral disc of tail|tail intervertebral disk|intervertebral disc of post-ventral region|tail spinal disc|intervertebral disk of post-ventral region|intervertebral disk of tail http://purl.obolibrary.org/obo/UBERON_0003449 GO:0045598 biolink:BiologicalProcess regulation of fat cell differentiation Any process that modulates the frequency, rate or extent of adipocyte differentiation. hp.json regulation of adipocyte differentiation|regulation of adipocyte cell differentiation http://purl.obolibrary.org/obo/GO_0045598 GO:0045599 biolink:BiologicalProcess negative regulation of fat cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation. hp.json negative regulation of adipocyte differentiation|downregulation of fat cell differentiation|down regulation of fat cell differentiation|inhibition of fat cell differentiation|down-regulation of fat cell differentiation|negative regulation of adipocyte cell differentiation http://purl.obolibrary.org/obo/GO_0045599 GO:0045596 biolink:BiologicalProcess negative regulation of cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation. hp.json downregulation of cell differentiation|down regulation of cell differentiation|inhibition of cell differentiation|down-regulation of cell differentiation http://purl.obolibrary.org/obo/GO_0045596 GO:0045597 biolink:BiologicalProcess positive regulation of cell differentiation Any process that activates or increases the frequency, rate or extent of cell differentiation. hp.json stimulation of cell differentiation|up regulation of cell differentiation|up-regulation of cell differentiation|activation of cell differentiation|upregulation of cell differentiation http://purl.obolibrary.org/obo/GO_0045597 GO:0045595 biolink:BiologicalProcess regulation of cell differentiation Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. hp.json http://purl.obolibrary.org/obo/GO_0045595 UBERON:0003450 biolink:AnatomicalEntity upper jaw incisor An incisor tooth that is part of a upper jaw [Automatically generated definition]. EHDAA2:0002121|NCIT:C49794|FMA:321754|MA:0001601|UMLS:C1710579|EMAPA:17939 hp.json upper incisor|incisor tooth of upper jaw|upper jaw incisor tooth|incisor tooth of palatoquadrate arch|palatoquadrate arch incisor tooth|incisor of upper jaw|premaxillary tooth|maxillary incisor tooth|incisor of palatoquadrate arch|palatoquadrate arch incisor http://purl.obolibrary.org/obo/UBERON_0003450 pheno_slim UBERON:0003451 biolink:AnatomicalEntity lower jaw incisor An incisor tooth that is part of a lower jaw [Automatically generated definition]. UMLS:C1708755|EHDAA2:0001021|NCIT:C49583|MA:0001600|EMAPA:17918|BTO:0001942 hp.json lower incisor|incisor tooth of ventral mandibular arch|ventral mandibular arch incisor tooth|incisor tooth of lower jaw|lower jaw incisor tooth|incisor of ventral mandibular arch|mandibular incisor|ventral mandibular arch incisor|incisor of lower jaw http://purl.obolibrary.org/obo/UBERON_0003451 pheno_slim UBERON:0003458 biolink:AnatomicalEntity neck bone A bone that is part of a neck [Automatically generated definition]. MA:0000584|OpenCyc:Mx4rvnpJSJwpEbGdrcN5Y29ycA|EMAPA:37246 hp.json bone of neck|neck (volume) bone|bone of neck (volume)|bone organ of neck (volume)|neck bone organ|neck (volume) bone organ|bone organ of neck http://purl.obolibrary.org/obo/UBERON_0003458 UBERON:0003459 biolink:AnatomicalEntity chest bone A bone that is part of a chest [Automatically generated definition]. EMAPA:18025|MA:0000547 hp.json bone organ of anterolateral part of thorax|anterior thoracic region bone organ|bone of anterolateral part of thorax|anterior thoracic region bone|bone organ of anterior thoracic region|anterolateral part of thorax bone organ|anterolateral part of thorax bone|bone of anterior thoracic region|front of thorax bone organ|bone of chest|chest bone organ|front of thorax bone|bone organ of chest|bone of front of thorax|bone organ of front of thorax http://purl.obolibrary.org/obo/UBERON_0003459 UBERON:0003456 biolink:AnatomicalEntity respiratory system lymphatic vessel A lymphatic vessel that is part of a respiratory system [Automatically generated definition]. MA:0001824|EMAPA:37580 hp.json respiratory system lymph vessel|apparatus respiratorius lymphatic vessel|lymph vessel of apparatus respiratorius|apparatus respiratorius lymph vessel|lymphatic vessel of apparatus respiratorius|lymphatic vessel of respiratory system|lymph vessel of respiratory system http://purl.obolibrary.org/obo/UBERON_0003456 UBERON:0003457 biolink:AnatomicalEntity head bone A bone that is part of a head [Automatically generated definition]. EMAPA:35996|MA:0000576|SCTID:118646007 hp.json craniofacial bone|craniofacial bone|head bone organ|bone organ of adult head|bone of adult head|adult head bone organ|adult head bone|bone organ of head|bone of head http://purl.obolibrary.org/obo/UBERON_0003457 pheno_slim UBERON:0003438 biolink:AnatomicalEntity iris nerve Any nerve that innervates the iris. EMAPA:35449|MA:0001291 hp.json nerve of iris|ciliary nerve http://purl.obolibrary.org/obo/UBERON_0003438 CHEBI:24898 biolink:ChemicalSubstance isoleucine A 2-amino-3-methylpentanoic acid having either (2R,3R)- or (2S,3S)-configuration. CAS:443-79-8|CAS:443-79-8|Reaxys:1721790|Beilstein:1721790|PMID:17190852 hp.json isoleucine|rel-(2R,3R)-2-amino-3-methylpentanoic acid|Hile http://purl.obolibrary.org/obo/CHEBI_24898 3_STAR PR:P08508 biolink:Protein low affinity immunoglobulin gamma Fc region receptor III (mouse) A low affinity immunoglobulin gamma Fc region receptor III that is encoded in the genome of mouse. UniProtKB:P08508 hp.json Fcgr3|CD16 (mouse)|FcRIII (mouse)|mFcgr3|IgG Fc receptor III (mouse)|Fc-gamma RIII (mouse) http://purl.obolibrary.org/obo/PR_P08508 UBERON:0003439 biolink:AnatomicalEntity nerve of trunk region A nerve that is part of the trunk region of the body (not to be confused with a nerve trunk). MA:0000515|EMAPA:37264 hp.json nerve of torso|torso nerve|trunk nerve|nerve of trunk http://purl.obolibrary.org/obo/UBERON_0003439 non_informative|grouping_class GO:0008610 biolink:BiologicalProcess lipid biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. hp.json lipid synthesis|lipid formation|lipid biosynthesis|lipid anabolism|lipogenesis http://purl.obolibrary.org/obo/GO_0008610 UBERON:0015420 biolink:AnatomicalEntity ureteral valve A valve that is part of a ureter. EMAPA:37781|MA:0002658 hp.json valve or ureter|ureteral valve http://purl.obolibrary.org/obo/UBERON_0015420 UBERON:0003440 biolink:AnatomicalEntity limb nerve A nerve that is part of a limb [Automatically generated definition]. EMAPA:37291|MA:0000693 hp.json nerve of limb http://purl.obolibrary.org/obo/UBERON_0003440 NCBITaxon:9443 biolink:OrganismalEntity Primates hp.json http://purl.obolibrary.org/obo/NCBITaxon_9443 UBERON:0015418 biolink:AnatomicalEntity urethra mesenchymal layer A mesenchyme that is part of a urethra. EMAPA:37786|MA:0002648 hp.json http://purl.obolibrary.org/obo/UBERON_0015418 UBERON:0003447 biolink:AnatomicalEntity digit nerve of manus A nerve that is part of a finger [Automatically generated definition]. MA:0000625|EMAPA:37341 hp.json digitus manus nerve|nerve of finger|nerve of digit of terminal segment of free upper limb|nerve of terminal segment of free upper limb digit|hand digit nerve|finger nerve|terminal segment of free upper limb digit nerve|nerve of digit of hand|nerve of digitus manus|digit of terminal segment of free upper limb nerve|nerve of hand digit|digit of hand nerve http://purl.obolibrary.org/obo/UBERON_0003447 UBERON:0003448 biolink:AnatomicalEntity manus nerve A nerve that is part of a manus [Automatically generated definition]. MA:0000629|EMAPA:37340 hp.json nerve of hand|nerve of manus|hand nerve http://purl.obolibrary.org/obo/UBERON_0003448 UBERON:0003445 biolink:AnatomicalEntity pes nerve A nerve that is part of a foot [Automatically generated definition]. EMAPA:37347|MA:0000653 hp.json foot nerve|nerve of foot http://purl.obolibrary.org/obo/UBERON_0003445 UBERON:0003446 biolink:AnatomicalEntity ankle nerve A nerve that is part of an ankle [Automatically generated definition]. MA:0000640|EMAPA:37346 hp.json tarsal region nerve|nerve of ankle|neural network of ankle http://purl.obolibrary.org/obo/UBERON_0003446 UBERON:0003443 biolink:AnatomicalEntity thoracic cavity nerve A nerve that is located in a thoracic cavity [Automatically generated definition]. EMAPA:37267|MA:0000556 hp.json nerve of chest cavity|cavity of thorax nerve|nerve of cavity of thorax|nerve of thoracic cavity|nerve of pectoral cavity|nerve of cavity of chest|chest cavity nerve|cavity of chest nerve|pectoral cavity nerve http://purl.obolibrary.org/obo/UBERON_0003443 UBERON:0003444 biolink:AnatomicalEntity pelvis nerve A nerve that is part of a pelvis [Automatically generated definition]. EMAPA:37269|MA:0000542 hp.json nerve of pelvis http://purl.obolibrary.org/obo/UBERON_0003444 MPATH:515 biolink:NamedThing non-Lymphoid neoplasias Hematological neoplasias of non-lymphoid origin. URL:http://www.bloodjournal.org/cgi/content/full/100/1/238/DC1/2 hp.json http://purl.obolibrary.org/obo/MPATH_515 UBERON:0003441 biolink:AnatomicalEntity forelimb nerve A nerve that is part of a forelimb [Automatically generated definition]. EMAPA:37334|MA:0000616 hp.json nerve of superior member|nerve of upper extremity|nerve of fore limb|nerve of forelimb|fore limb nerve|wing nerve http://purl.obolibrary.org/obo/UBERON_0003441 UBERON:0003442 biolink:AnatomicalEntity hindlimb nerve A nerve that is part of a hindlimb [Automatically generated definition]. EMAPA:37342|MA:0000664 hp.json nerve of inferior member|nerve of hind limb|hind limb nerve|nerve of lower extremity|nerve of hindlimb http://purl.obolibrary.org/obo/UBERON_0003442 CHEBI:24863 biolink:ChemicalSubstance iodophenol hp.json iodophenol http://purl.obolibrary.org/obo/CHEBI_24863 3_STAR CHEBI:24862 biolink:ChemicalSubstance iodoamino acid An amino acid containing at least one iodo substituent. hp.json http://purl.obolibrary.org/obo/CHEBI_24862 3_STAR CL:0017502 biolink:Cell acidophilic cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. hp.json eosinophilic http://purl.obolibrary.org/obo/CL_0017502 CHEBI:24860 biolink:ChemicalSubstance iodine molecular entity hp.json iodine molecular entity|iodine molecular entities|iodine compounds http://purl.obolibrary.org/obo/CHEBI_24860 3_STAR CL:0017500 biolink:Cell neutrophillic cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. hp.json http://purl.obolibrary.org/obo/CL_0017500 UBERON:0003429 biolink:AnatomicalEntity abdomen nerve A nerve that is part of an abdomen [Automatically generated definition]. MA:0000521 hp.json nerve of abdomen http://purl.obolibrary.org/obo/UBERON_0003429 CL:0017505 biolink:Cell increased nucleus size A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. hp.json http://purl.obolibrary.org/obo/CL_0017505 CHEBI:24867 biolink:ChemicalSubstance monoatomic ion hp.json monoatomic ions http://purl.obolibrary.org/obo/CHEBI_24867 3_STAR CHEBI:24866 biolink:ChemicalSubstance salt A salt is an assembly of cations and anions. hp.json Salz|sales|ionic compounds|sel|Salze|sels|ionic compound|salt|sal|salts http://purl.obolibrary.org/obo/CHEBI_24866 3_STAR OBO:MAXO_0000520 biolink:NamedThing obstetric ultrasonography Use of medical ultrasonography in pregnancy where sound waves are used to create a real-time visual image of the developing fetus in the uterus. Imaging can include the mother's ovaries and uterus as well. hp.json prenatal ultrasound procedure|obstetric sonography http://purl.obolibrary.org/obo/MAXO_0000520 CL:0017503 biolink:Cell basophilic cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. hp.json http://purl.obolibrary.org/obo/CL_0017503 UBERON:0003427 biolink:AnatomicalEntity abdominal fat pad The encapsulated adipose tissue in the abdomen. MA:0000472|EMAPA:36499 hp.json abdominal fat depot|abdomen fat pad|fat pad of abdomen http://purl.obolibrary.org/obo/UBERON_0003427 pheno_slim CHEBI:24864 biolink:ChemicalSubstance iodothyronine An iodoamino acid in which the amino acid specified is thyronine. hp.json iodothyronines http://purl.obolibrary.org/obo/CHEBI_24864 3_STAR UBERON:0003428 biolink:AnatomicalEntity gonadal fat pad The encapsulated adipose tissue associated with the ovaries or testes. MA:0002547|EFO:0000811|AAO:0000157|XAO:0003050 hp.json gonadal fat pad|gonadal fat depot|fat pad of gonads|gonad-associated fat pad|gonad fat pad|fat pad of gonad http://purl.obolibrary.org/obo/UBERON_0003428 pheno_slim|efo_slim CL:0017504 biolink:Cell polychromatophilic cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. hp.json http://purl.obolibrary.org/obo/CL_0017504 UBERON:0015410 biolink:AnatomicalEntity heart plus pericardium EMAPA:37597|MA:0002449 hp.json heart/pericardium http://purl.obolibrary.org/obo/UBERON_0015410 CHEBI:36841 biolink:ChemicalSubstance 11-hydroxy steroid hp.json 11-hydroxy steroids http://purl.obolibrary.org/obo/CHEBI_36841 3_STAR OBO:MAXO_0000529 biolink:NamedThing prenatal genetic testing Testing of fetal DNA during pregnancy to determine if the fetus has chromosomal aberrations, fetal aneuploidy, or other detectable genetic disorders. hp.json fetal genetic testing|prenatal genetic screening|foetal genetic screening http://purl.obolibrary.org/obo/MAXO_0000529 UBERON:0003436 biolink:AnatomicalEntity shoulder nerve A nerve that is part of a shoulder [Automatically generated definition]. EMAPA:37335|MA:0000634 hp.json nerve of shoulder http://purl.obolibrary.org/obo/UBERON_0003436 UBERON:0003437 biolink:AnatomicalEntity eyelid nerve A nerve that innervates an eyelid. MA:0001255|EMAPA:37535 hp.json blepharon nerve|nerve of eyelid|palpebral nerve|nerve of blepharon http://purl.obolibrary.org/obo/UBERON_0003437 UBERON:0003434 biolink:AnatomicalEntity wrist nerve A nerve that is part of a wrist [Automatically generated definition]. EMAPA:37339|MA:0000637 hp.json nerve of wrist|nerve of carpal region|carpal region nerve http://purl.obolibrary.org/obo/UBERON_0003434 UBERON:0003435 biolink:AnatomicalEntity pedal digit nerve A nerve that is part of a toe [Automatically generated definition]. EMAPA:37348|MA:0000649 hp.json nerve of foot digit|digitus pedis nerve|digit of foot nerve|nerve of digit of terminal segment of free lower limb|nerve of toe|nerve of terminal segment of free lower limb digit|toe nerve|terminal segment of free lower limb digit nerve|foot digit nerve|hind limb digit nerve|nerve of digit of foot|nerve of digitus pedis|foot digit nerve|digit of terminal segment of free lower limb nerve http://purl.obolibrary.org/obo/UBERON_0003435 CHEBI:24868 biolink:ChemicalSubstance organic salt hp.json organic salts|organisches Salz http://purl.obolibrary.org/obo/CHEBI_24868 3_STAR MPATH:502 biolink:NamedThing monocytic leukaemia Leukaemia in which neoplastic cells are poorly or moderately differentiated with a monocytic but no neutrophilic component. At least 20% of the cells must be blasts. URL:http://www.bloodjournal.org/cgi/content/full/100/1/238/DC1/2 hp.json http://purl.obolibrary.org/obo/MPATH_502 UBERON:0003432 biolink:AnatomicalEntity chest nerve A nerve that is part of a chest [Automatically generated definition]. MA:0000551|EMAPA:37266 hp.json nerve of front of thorax|nerve of anterior thoracic region|front of thorax nerve|anterolateral part of thorax nerve|anterior thoracic region nerve|nerve of anterolateral part of thorax|nerve of chest http://purl.obolibrary.org/obo/UBERON_0003432 OBO:MAXO_0000527 biolink:NamedThing physical examination A systemic evaluation of the body and its functions using visual inspection, palpation, percussion and auscultation. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. hp.json http://purl.obolibrary.org/obo/MAXO_0000527 OBO:MAXO_0000528 biolink:NamedThing prenatal examination A test or diagnostic examination to assess the health status of the mother and well being of the fetus. NCIT:C92714 hp.json antenatal examination http://purl.obolibrary.org/obo/MAXO_0000528 UBERON:0003433 biolink:AnatomicalEntity arm nerve A nerve that is part of an arm [Automatically generated definition]. MA:0000595|EMAPA:37336 hp.json nerve of arm|nerve of brachial region|brachial region nerve http://purl.obolibrary.org/obo/UBERON_0003433 UBERON:0003430 biolink:AnatomicalEntity neck nerve A nerve that is part of a neck [Automatically generated definition]. EMAPA:37263|MA:0000588 hp.json nerve of neck (volume)|neck (volume) nerve|nerve of neck http://purl.obolibrary.org/obo/UBERON_0003430 UBERON:0003431 biolink:AnatomicalEntity leg nerve A nerve that is part of a leg [Automatically generated definition]. MA:0000673|EMAPA:37343 hp.json nerve of leg http://purl.obolibrary.org/obo/UBERON_0003431 OBO:MAXO_0000526 biolink:NamedThing clinical examination A direct assessment of a patient's condition by a clinical health professional that is based on a physical exam, medical history, and the patient's account of symptoms. NCIT:C25305 hp.json examination by physician|medical examination http://purl.obolibrary.org/obo/MAXO_0000526 CHEBI:24873 biolink:ChemicalSubstance iron molecular entity hp.json iron compounds|iron molecular entity|iron molecular entities http://purl.obolibrary.org/obo/CHEBI_24873 3_STAR UBERON:0003418 biolink:AnatomicalEntity mesenchyme of submandibular gland Mesenchyme that is part of a developing submandibular gland [Automatically generated definition]. VHOG:0001110|EMAPA:18814 hp.json submaxillary gland mesenchyme|submandibular gland mesenchyme http://purl.obolibrary.org/obo/UBERON_0003418 UBERON:0003419 biolink:AnatomicalEntity mesenchyme of parotid Mesenchyme that is part of a developing parotid gland [Automatically generated definition]. VHOG:0001435|EMAPA:18539 hp.json mesenchyme of parotid gland|parotid mesenchyme|parotid gland mesenchyme http://purl.obolibrary.org/obo/UBERON_0003419 UBERON:0003416 biolink:AnatomicalEntity mesenchyme of tongue Mesenchyme that is part of a developing tongue [Automatically generated definition]. EHDAA2:0004614|EMAPA:17882 hp.json tongue mesenchyme http://purl.obolibrary.org/obo/UBERON_0003416 CHEBI:24875 biolink:ChemicalSubstance iron cation hp.json iron cations|Fe cation|iron cation http://purl.obolibrary.org/obo/CHEBI_24875 3_STAR UBERON:0003417 biolink:AnatomicalEntity mesenchyme of soft palate Mesenchyme that is part of a developing soft palate [Automatically generated definition]. EMAPA:18951 hp.json soft palate mesenchyme http://purl.obolibrary.org/obo/UBERON_0003417 CHEBI:24870 biolink:ChemicalSubstance ion A molecular entity having a net electric charge. hp.json iones|Ionen|ion|Ion|ions|ion http://purl.obolibrary.org/obo/CHEBI_24870 3_STAR NCBITaxon:2653789 biolink:OrganismalEntity Whippomorpha hp.json http://purl.obolibrary.org/obo/NCBITaxon_2653789 CHEBI:36853 biolink:ChemicalSubstance hydroxy seco-steroid hp.json hydroxy seco-steroids http://purl.obolibrary.org/obo/CHEBI_36853 3_STAR UBERON:0003425 biolink:AnatomicalEntity renal lymph node A lymph node that is located in a kidney [Automatically generated definition]. NCIT:C77646|UMLS:C2699031|MA:0002882|FMA:276799 hp.json lymph node of kidney|kidney lymph node http://purl.obolibrary.org/obo/UBERON_0003425 UBERON:0003426 biolink:AnatomicalEntity dermis adipose tissue An adipose tissue that is part of a dermis [Automatically generated definition]. MA:0000798 hp.json dermis fatty tissue|adipose tissue of dermis|fat tissue of dermis|dermis fat tissue|fatty tissue of dermis http://purl.obolibrary.org/obo/UBERON_0003426 pheno_slim UBERON:0003424 biolink:AnatomicalEntity mesenchyme of hard palate Mesenchyme that is part of a developing hard palate [Automatically generated definition]. EMAPA:18954 hp.json hard palate mesenchyme http://purl.obolibrary.org/obo/UBERON_0003424 UBERON:0003422 biolink:AnatomicalEntity mesenchyme of umbilical cord A gelatinous substance within the umbilical cord, largely made up of mucopolysaccharides (hyaluronic acid and chondroitin sulfate). It also contains some fibroblasts and macrophages. It is derived from Extra Embryonic Mesoderm[WP]. EMAPA:35925|EMAPA:26127 hp.json umbilical cord mesenchyme|Wharton's jelly http://purl.obolibrary.org/obo/UBERON_0003422 UBERON:0003420 biolink:AnatomicalEntity mesenchyme of sublingual gland Mesenchyme that is part of a developing sublingual gland [Automatically generated definition]. VHOG:0001106|EMAPA:18811 hp.json sublingual gland mesenchyme|mesenchyme of Rivinus'gland|Rivinus'gland mesenchyme|ductus sublingualis mesenchyme|mesenchyme of ductus sublingualis http://purl.obolibrary.org/obo/UBERON_0003420 UBERON:0015474 biolink:AnatomicalEntity axilla skin A zone of skin that is part of a axilla. NCIT:C116164|FMA:37322|EMAPA:37349|MA:0003087 hp.json axillary skin|skin of axilla http://purl.obolibrary.org/obo/UBERON_0015474 UBERON:0015479 biolink:AnatomicalEntity scrotum skin A zone of skin that is part of a scrotum. FMA:20432|MA:0003093|EMAPA:36411 hp.json skin of scrotum|scrotal skin http://purl.obolibrary.org/obo/UBERON_0015479 pheno_slim UBERON:0015476 biolink:AnatomicalEntity nose skin A zone of skin that is part of a external nose. EMAPA:37684|FMA:24763|MA:0003090 hp.json skin of external nose|skin of nose|external nasal skin http://purl.obolibrary.org/obo/UBERON_0015476 HP:0007906 biolink:PhenotypicFeature Ocular hypertension Intraocular pressure that is 2 standard deviations above the population mean. SNOMEDCT_US:112222000|UMLS:C0234708 hp.json Raised intraocular pressure|Elevated intraocular pressure|Elevated IOP|Raised IOP|Increased intraocular pressure|High eye pressure|Increased IOP http://purl.obolibrary.org/obo/HP_0007906 HP:0007905 biolink:PhenotypicFeature Abnormal iris vasculature UMLS:C3275963 hp.json Abnormality of iris blood vessels http://purl.obolibrary.org/obo/HP_0007905 UBERON:0015477 biolink:AnatomicalEntity axillary fat pad A fat pad that is part of a axilla. MA:0003091 hp.json http://purl.obolibrary.org/obo/UBERON_0015477 HP:0007902 biolink:PhenotypicFeature Vitreous hemorrhage Bleeding within the vitreous compartment of the eye. UMLS:C0042909|SNOMEDCT_US:31341008|MSH:D014823 hp.json Vitreous haemorrhage http://purl.obolibrary.org/obo/HP_0007902 hposlim_core UBERON:0003494 biolink:AnatomicalEntity respiratory system venule A venule that is part of a respiratory system [Automatically generated definition]. EMAPA:37587|MA:0001813 hp.json venule of respiratory system|apparatus respiratorius venule|venule of apparatus respiratorius http://purl.obolibrary.org/obo/UBERON_0003494 UBERON:0003495 biolink:AnatomicalEntity respiratory system arteriole An arteriole that is part of a respiratory system [Automatically generated definition]. EMAPA:37568|MA:0001803 hp.json http://purl.obolibrary.org/obo/UBERON_0003495 HP:0007901 biolink:PhenotypicFeature obsolete Retinal malformation hp.json http://purl.obolibrary.org/obo/HP_0007901 HP:0007903 biolink:PhenotypicFeature Paravenous chorioretinal atrophy Chorioretinal atrophy along the retinal veins. UMLS:C4072868 hp.json http://purl.obolibrary.org/obo/HP_0007903 HP:0007900 biolink:PhenotypicFeature Hypoplastic lacrimal duct UMLS:C1968574 hp.json Underdeveloped tear duct http://purl.obolibrary.org/obo/HP_0007900 UBERON:0003498 biolink:AnatomicalEntity heart blood vessel A blood vessel that is part of a heart [Automatically generated definition]. EMAPA:35397|MA:0002483 hp.json blood vessel of heart|cardiac blood vessel http://purl.obolibrary.org/obo/UBERON_0003498 pheno_slim UBERON:0003499 biolink:AnatomicalEntity brain blood vessel A blood vessel that is part of a brain [Automatically generated definition]. MA:0002769|EMAPA:35182 hp.json blood vessel of brain http://purl.obolibrary.org/obo/UBERON_0003499 pheno_slim UBERON:0003496 biolink:AnatomicalEntity head blood vessel A blood vessel that is part of a head [Automatically generated definition]. EMAPA:36610|MA:0000575|SCTID:127865000 hp.json blood vessel of adult head|adult head blood vessel|blood vessel of head http://purl.obolibrary.org/obo/UBERON_0003496 UBERON:0003497 biolink:AnatomicalEntity abdomen blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. MA:0000518 hp.json blood vessel of abdomen http://purl.obolibrary.org/obo/UBERON_0003497 CHEBI:36838 biolink:ChemicalSubstance 17-hydroxy steroid A hydroxy steroid carrying a hydroxy group at position 17. hp.json 17-hydroxy steroids http://purl.obolibrary.org/obo/CHEBI_36838 3_STAR CHEBI:36836 biolink:ChemicalSubstance 3beta-hydroxy steroid A 3-hydroxy steroid in which the 3-hydroxy substituent is in the beta-position. PMID:10535978|MetaCyc:3-Beta-Hydroxysterols|PMID:12829805|KEGG:C02945 hp.json a 3beta-hydroxysteroid|3beta-hydroxy steroids http://purl.obolibrary.org/obo/CHEBI_36836 3_STAR HP:0007917 biolink:PhenotypicFeature Tractional retinal detachment A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes. UMLS:C1866178 hp.json http://purl.obolibrary.org/obo/HP_0007917 HP:0007916 biolink:PhenotypicFeature obsolete Small anterior lens surface opacities hp.json http://purl.obolibrary.org/obo/HP_0007916 HP:0007913 biolink:PhenotypicFeature Reticular retinal dystrophy A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation. UMLS:C4024776 hp.json http://purl.obolibrary.org/obo/HP_0007913 CHEBI:36830 biolink:ChemicalSubstance monoanion hp.json monoanions http://purl.obolibrary.org/obo/CHEBI_36830 3_STAR UBERON:0003483 biolink:AnatomicalEntity thymus lymphoid tissue A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. UMLS:C1515429|NCIT:C38515|MA:0002673|MESH:D013950|EMAPA:37766 hp.json lymphoid tissue of thymus gland|lymphoid tissue of thymus|thymus gland lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0003483 UBERON:0003484 biolink:AnatomicalEntity eye sebaceous gland A sebaceous gland that is part of a camera-type eye. Example: a tarsal gland. MA:0002452|EMAPA:37531 hp.json sebaceous gland of vertebrate eye|camera-type eye sebaceous gland|sebaceous gland of camera-type eye|vertebrate eye sebaceous gland http://purl.obolibrary.org/obo/UBERON_0003484 organ_slim UBERON:0003481 biolink:AnatomicalEntity tail vein A vein that is part of a tail [Automatically generated definition]. AAO:0011105|MA:0002233|XAO:0000393|EMAPA:37761 hp.json post-vent region vein|vein of post-vent region|vein of tail|caudal vein http://purl.obolibrary.org/obo/UBERON_0003481 HP:0007915 biolink:PhenotypicFeature Polymorphous posterior corneal dystrophy This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. UMLS:C0339284|SNOMEDCT_US:29504002|MSH:C562745 hp.json http://purl.obolibrary.org/obo/HP_0007915 UBERON:0003482 biolink:AnatomicalEntity vein of trabecular bone A portion of vein that is part of a trabecular bone tissue [Automatically generated definition]. MA:0002254|EMAPA:37203 hp.json vein of trabecular bone tissue|spongy bone vein|trabecular bone tissue vein|vein of spongy bone|trabecular bone vein http://purl.obolibrary.org/obo/UBERON_0003482 CHEBI:36834 biolink:ChemicalSubstance 3-hydroxy steroid Any hydroxy steroid carrying a hydroxy group at position 3. hp.json 3-hydroxy steroids http://purl.obolibrary.org/obo/CHEBI_36834 3_STAR UBERON:0003480 biolink:AnatomicalEntity vein of clitoris A vein that is part of a clitoris [Automatically generated definition]. MA:0002252|EMAPA:37201 hp.json clitoris vein http://purl.obolibrary.org/obo/UBERON_0003480 HP:0007911 biolink:PhenotypicFeature Congenital bilateral ptosis UMLS:C1836264 hp.json Congenital drooping of both upper eyelids|Ptosis, congenital bilateral|Ptosis, bilateral congenital http://purl.obolibrary.org/obo/HP_0007911 HP:0007910 biolink:PhenotypicFeature obsolete Nonprogressive congenital retinal dystrophy hp.json http://purl.obolibrary.org/obo/HP_0007910 CHEBI:24859 biolink:ChemicalSubstance iodine atom Chemical element with atomic number 53. WebElements:I hp.json Jod|Iod|53I|J|I|iode|iodine|iodium|iodine|yodo http://purl.obolibrary.org/obo/CHEBI_24859 3_STAR UBERON:0003489 biolink:AnatomicalEntity respiratory system capillary endothelium An endothelium of capillary that is part of a respiratory system [Automatically generated definition]. EMAPA:37575|MA:0001808 hp.json respiratory system endothelium of capillary vessel|apparatus respiratorius endothelium of blood capillary|blood capillary endothelium of apparatus respiratorius|capillary vessel endothelium of respiratory system|endothelium of capillary of respiratory system|respiratory system blood capillary endothelium|endothelium of blood capillary of apparatus respiratorius|endothelium of capillary vessel of apparatus respiratorius|respiratory system capillary vessel endothelium|capillary endothelium of respiratory system|respiratory system endothelium of capillary|capillary endothelium of apparatus respiratorius|apparatus respiratorius capillary endothelium|endothelium of blood capillary of respiratory system|endothelium of capillary vessel of respiratory system|endothelium of capillary of apparatus respiratorius|apparatus respiratorius capillary vessel endothelium|capillary vessel endothelium of apparatus respiratorius|blood capillary endothelium of respiratory system|apparatus respiratorius endothelium of capillary|respiratory system endothelium of blood capillary|apparatus respiratorius endothelium of capillary vessel|apparatus respiratorius blood capillary endothelium http://purl.obolibrary.org/obo/UBERON_0003489 UBERON:0003487 biolink:AnatomicalEntity skin sebaceous gland A holocrine gland of the dermis that secretes sebum into hair follicles. MA:0000149 hp.json cutaneous sebaceous gland|sebaceous gland of skin http://purl.obolibrary.org/obo/UBERON_0003487 pheno_slim UBERON:0003488 biolink:AnatomicalEntity abdominal mammary gland A lactiferous gland that is part of the abdominal region [Automatically generated definition]. MA:0000787|EMAPA:36507 hp.json lobe of breast of abdomen|lactiferous gland of abdomen|abdomen lobe of breast|abdomen lobe of mammary gland|abdomen mammary gland|mammary gland of abdomen|lobe of mammary gland of abdomen|abdomen lactiferous gland http://purl.obolibrary.org/obo/UBERON_0003488 UBERON:0003485 biolink:AnatomicalEntity vagina sebaceous gland A sebaceous gland that is part of a vagina [Automatically generated definition]. EMAPA:37793|MA:0001732 hp.json sebaceous gland of vagina http://purl.obolibrary.org/obo/UBERON_0003485 organ_slim UBERON:0015458 biolink:AnatomicalEntity mediastinal fat pad A fat pad that is part of a mediastinum. MA:0003063 hp.json http://purl.obolibrary.org/obo/UBERON_0015458 UBERON:0015454 biolink:AnatomicalEntity pancreatic fat pad A fat pad that is part of a pancreas. MA:0003029 hp.json http://purl.obolibrary.org/obo/UBERON_0015454 human_reference_atlas UBERON:0015453 biolink:AnatomicalEntity subcutaneous lymph node A lymph node that is part of a hypodermis. MA:0003028 hp.json http://purl.obolibrary.org/obo/UBERON_0015453 UBERON:0003472 biolink:AnatomicalEntity cerebellar artery An artery that supplies blood to the cerebellum. NCIT:C52845|MA:0001933|EMAPA:37074|EHDAA2:0000228|EHDAA:5290|UMLS:C0226246 hp.json http://purl.obolibrary.org/obo/UBERON_0003472 UBERON:0003473 biolink:AnatomicalEntity thoracic cavity artery An artery that is part of a thoracic cavity[cjm]. MA:0001902|EMAPA:37241|MESH:D013895 hp.json thoracic artery http://purl.obolibrary.org/obo/UBERON_0003473 UBERON:0003470 biolink:AnatomicalEntity artery of upper lip The superior labial artery (superior labial branch of facial artery) is larger and more tortuous than the inferior labial artery. It follows a similar course along the edge of the upper lip, lying between the mucous membrane and the Orbicularis oris, and anastomoses with the artery of the opposite side. It supplies the upper lip, and gives off in its course two or three vessels which ascend to the nose; a septal branch ramifies on the nasal septum as far as the point of the nose, and an alar branch supplies the ala of the nose. EMAPA:37430|FMA:49570|MA:0001917 hp.json superior labial branch of facial artery|superior labial artery|arteria labialis superior|ramus labialis superior arteriae facialis http://purl.obolibrary.org/obo/UBERON_0003470 human_reference_atlas UBERON:0003471 biolink:AnatomicalEntity artery of lower lip The inferior labial artery (inferior labial branch of facial artery) arises near the angle of the mouth; it passes upward and forward beneath the Triangularis and, penetrating the Orbicularis oris, runs in a tortuous course along the edge of the lower lip between this muscle and the mucous membrane. It supplies the labial glands, the mucous membrane, and the muscles of the lower lip; and anastomoses with the artery of the opposite side, and with the mental branch of the inferior alveolar artery. Wikipedia:Inferior_labial_artery|FMA:49567|EMAPA:37429|MA:0001916|SCTID:145036002 hp.json arteria labialis inferior|ramus labialis inferior arteriae facialis|inferior labial artery|ramus labialis inferior (arteria facialis)|inferior labial branch of facial artery|arteria labialis inferior|ramus labialis inferior arteriae facialis http://purl.obolibrary.org/obo/UBERON_0003471 human_reference_atlas UBERON:0003478 biolink:AnatomicalEntity vein of lower lip The inferior labial vein is the vein receiving blood from the lower lip. EMAPA:37202|FMA:52541|SCTID:422955002|Wikipedia:Inferior_labial_vein|MA:0002253 hp.json inferior labial vein|vena labialis inferior|lower lip vein|venae labiales inferiores|venae labiales inferiores http://purl.obolibrary.org/obo/UBERON_0003478 human_reference_atlas UBERON:0003479 biolink:AnatomicalEntity thoracic cavity vein A vein that is part of a thoracic cavity [Automatically generated definition]. MA:0001903|EMAPA:37242 hp.json cavity of thorax vein|vein of thoracic cavity|vein of pectoral cavity|vein of cavity of chest|vein of chest cavity|cavity of chest vein|pectoral cavity vein|chest cavity vein|vein of cavity of thorax http://purl.obolibrary.org/obo/UBERON_0003479 UBERON:0003476 biolink:AnatomicalEntity respiratory system venous blood vessel A vein that is part of a respiratory system [Automatically generated definition]. EMAPA:37584|MA:0001810|MA:0001809 hp.json vein of respiratory system|respiratory system vein|vein of apparatus respiratorius|apparatus respiratorius vein http://purl.obolibrary.org/obo/UBERON_0003476 UBERON:0003477 biolink:AnatomicalEntity vein of upper lip The inferior labial vein is the vein receiving blood from the upper lip. FMA:52538|MA:0002255|EMAPA:37204 hp.json vena labialis superior|superior labial vein|upper lip vein http://purl.obolibrary.org/obo/UBERON_0003477 human_reference_atlas UBERON:0003474 biolink:AnatomicalEntity meningeal artery One of the arteries supplying a meninix[Automatically generated definition]. Wikipedia:Meningeal_arteries|MESH:D008576|GAID:499|MA:0002001|EMAPA:37104 hp.json http://purl.obolibrary.org/obo/UBERON_0003474 UBERON:0003475 biolink:AnatomicalEntity ureteric vein A vein that is part of a ureter [Automatically generated definition]. MA:0002250|EMAPA:37679 hp.json vein of ureter|ureter vein http://purl.obolibrary.org/obo/UBERON_0003475 CHEBI:24828 biolink:ChemicalSubstance indoles Any compound containing an indole skeleton. hp.json http://purl.obolibrary.org/obo/CHEBI_24828 3_STAR CHEBI:24834 biolink:ChemicalSubstance inorganic anion hp.json inorganic anions http://purl.obolibrary.org/obo/CHEBI_24834 3_STAR CHEBI:24833 biolink:ChemicalSubstance oxoacid A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). hp.json oxacids|oxy-acids|oxo acid|oxiacids|oxyacids|oxoacid|oxoacids http://purl.obolibrary.org/obo/CHEBI_24833 3_STAR CHEBI:36818 biolink:ChemicalSubstance seco-cholestane hp.json seco-cholestanes http://purl.obolibrary.org/obo/CHEBI_36818 3_STAR UBERON:0003461 biolink:AnatomicalEntity shoulder bone A bone that is connected via a shoulder joint (i.e. glenohumeral or acromioclavicular joints). The shoulder bones are the clavicle, scapula and humerus - but note that these are only considered to be shoulder bones when a true shoulder is present, as in most tetrapods. MA:0000631 hp.json bone of shoulder|shoulder-articulating bone http://purl.obolibrary.org/obo/UBERON_0003461 pheno_slim UBERON:0003462 biolink:AnatomicalEntity facial bone A bone that is part of a facial skeleton [Automatically generated definition]. NCIT:C63706|MA:0001482|UMLS:C0015455|MESH:D005147|EMAPA:19019|SCTID:181799005|MA:0003159|EMAPA:35924 hp.json bone of facial skeleton|facial skeleton bone|bone of viscerocranium|viscerocranium bone|facial bone http://purl.obolibrary.org/obo/UBERON_0003462 pheno_slim UBERON:0003460 biolink:AnatomicalEntity arm bone A bone that is part of the region of the forelimb that includes the zeugopod and stylopod. Examples: patella, femur, tibia. MESH:D050280|OpenCyc:Mx4rwKTXoJwpEbGdrcN5Y29ycA|EMAPA:37303|MA:0000592 hp.json bone of arm|bone organ of arm|arm bone organ|bone of upper extremity http://purl.obolibrary.org/obo/UBERON_0003460 UBERON:0003469 biolink:AnatomicalEntity respiratory system artery An artery that is part of a respiratory system [Automatically generated definition]. MA:0001804|EMAPA:37569 hp.json http://purl.obolibrary.org/obo/UBERON_0003469 CHEBI:24836 biolink:ChemicalSubstance inorganic oxide hp.json inorganic oxides http://purl.obolibrary.org/obo/CHEBI_24836 3_STAR CHEBI:24835 biolink:ChemicalSubstance inorganic molecular entity A molecular entity that contains no carbon. hp.json inorganic compounds|inorganics|inorganic entity|inorganic molecular entities|anorganische Verbindungen http://purl.obolibrary.org/obo/CHEBI_24835 3_STAR UBERON:0003468 biolink:AnatomicalEntity ureteric segment of renal artery The ureteral branches of renal artery are small branches which supply the ureter. EMAPA:37676|MA:0002074|FMA:70491 hp.json ureteric artery http://purl.obolibrary.org/obo/UBERON_0003468 human_reference_atlas UBERON:0003466 biolink:AnatomicalEntity forelimb zeugopod bone A bone that is part of a lower arm [Automatically generated definition]. EMAPA:35347|MA:0000598 hp.json zeugopod bone, forelimb|wing zeugopod bone|arm zeugopod bone organ|arm zeugopod bone|antebrachial region bone organ|zeugopod bone, upper|antebrachial region bone|lower arm bone http://purl.obolibrary.org/obo/UBERON_0003466 pheno_slim UBERON:0003463 biolink:AnatomicalEntity trunk bone A bone that is part of a trunk [Automatically generated definition]. MA:0000512|EMAPA:36583|SCTID:427358002 hp.json bone of trunk|bone organ of trunk|bone of torso|bone organ of torso|torso bone organ|torso bone|trunk bone organ http://purl.obolibrary.org/obo/UBERON_0003463 UBERON:0003464 biolink:AnatomicalEntity hindlimb bone A bone that is part of a hindlimb region. Examples: any pes phalanx, femur. Counter-examples: ischium, pubis (they are part of the pelvic girdle). EFO:0003842|GAID:198|NCIT:C12982|UMLS:C0448188 hp.json bone organ of lower extremity|bone organ of hindlimb|bone of hindlimb|bone of inferior member|bone of hind limb|bone organ of hind limb|hindlimb bone organ|hind limb bone organ|bone of lower extremity|hind limb bone http://purl.obolibrary.org/obo/UBERON_0003464 efo_slim UBERON:0022248 biolink:AnatomicalEntity cerebral nerve fasciculus FMA:260712 hp.json telencephalic nerve fascicle|cerebral fasciculus|nerve fascicle of telencephalon|telencephalic fascicle|cerebral fascicle http://purl.obolibrary.org/obo/UBERON_0022248 HP:0009450 biolink:PhenotypicFeature Broad proximal phalanx of the 3rd finger Increased width of the proximal phalanx of the 3rd finger. UMLS:C4024355 hp.json Broad innermost bone of middle finger http://purl.obolibrary.org/obo/HP_0009450 CHEBI:25213 biolink:ChemicalSubstance metal cation hp.json a metal cation|metal cations http://purl.obolibrary.org/obo/CHEBI_25213 3_STAR CHEBI:25212 biolink:ChemicalSubstance metabolite Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. hp.json secondary metabolites|primary metabolites|metabolites|metabolite http://purl.obolibrary.org/obo/CHEBI_25212 3_STAR UBERON:0010260 biolink:AnatomicalEntity umbilical blood vessel One of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place; the umbilical vein carries oxygenated, nutrient-rich blood from the placenta to the fetus, and the umbilical arteries carry deoxygenated, nutrient-depleted blood from the fetus to the placenta. EMAPA:36493 hp.json allantoic vessel|umbilical cord blood vessels|umbilical vessel|umbilical cord blood vessel|umbilical vasculature http://purl.obolibrary.org/obo/UBERON_0010260 pheno_slim CHEBI:25216 biolink:ChemicalSubstance metalloporphyrin hp.json metalloporphyrins|metaloporphyrins http://purl.obolibrary.org/obo/CHEBI_25216 3_STAR HP:0010445 biolink:PhenotypicFeature Primum atrial septal defect An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. MSH:C548006|MSH:C536112|Fyler:1110|UMLS:C0741296|UMLS:C0344735|SNOMEDCT_US:253373002 hp.json Primum atrioventricular canal defect|Ostium primum atrial septal defect|Atrial septal defect, primum type|Septum primum defect http://purl.obolibrary.org/obo/HP_0010445 HP:0010444 biolink:PhenotypicFeature Pulmonary insufficiency The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. UMLS:C0034088|MSH:D011665|SNOMEDCT_US:91434003 hp.json Pulmonary valve regurgitation|Puolmonary valve insufficiency|Pulmonic regurgitation|Pulmonary incompetence http://purl.obolibrary.org/obo/HP_0010444 HP:0010443 biolink:PhenotypicFeature Bifid femur A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. UMLS:C4023824 hp.json Split thighbone|Notched thighbone http://purl.obolibrary.org/obo/HP_0010443 hposlim_core CHEBI:76807 biolink:ChemicalSubstance EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). hp.json non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitor|EC 3.5.1.* inhibitors|EC 3.5.1.* inhibitor|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitors|EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitors http://purl.obolibrary.org/obo/CHEBI_76807 3_STAR HP:0010442 biolink:PhenotypicFeature Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes. Fyler:4103|UMLS:C0152427|MSH:D017689|SNOMEDCT_US:367506006 hp.json More than five fingers or toes on hands or feet http://purl.obolibrary.org/obo/HP_0010442 UBERON:0010262 biolink:AnatomicalEntity operculum of brain The most posterior portion of the inferior frontal gyrus of the frontal lobe in the brain. In an axial plane, the Sylvian fissure extends from the operculum posteriorly to divide the frontal from the temporal lobe. Broca's area is a notable part of the operculum, which plays a key role in conversation or speech production, reading and writing. Its vascular supply comes from the M3 branches of the middle cerebral artery[WP]. hp.json operculum http://purl.obolibrary.org/obo/UBERON_0010262 pheno_slim HP:0010441 biolink:PhenotypicFeature Ectopic accessory finger-like appendage In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). UMLS:C4023825 hp.json http://purl.obolibrary.org/obo/HP_0010441 HP:0010440 biolink:PhenotypicFeature Ectopic accesory toe-like appendage In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). UMLS:C4023826 hp.json http://purl.obolibrary.org/obo/HP_0010440 CHEBI:15889 biolink:ChemicalSubstance sterol Any 3-hydroxy steroid whose skeleton is closely related to cholestan-3-ol (additional carbon atoms may be present in the side chain). Wikipedia:Sterol|KEGG:C00370|MetaCyc:Sterols|LIPID_MAPS_class:LMST01 hp.json 3-hydroxysteroids|a sterol|sterols|Sterol http://purl.obolibrary.org/obo/CHEBI_15889 3_STAR UBERON:0010258 biolink:AnatomicalEntity mesenchyme from rhombencephalic neural crest Mesenchyme that develops_from a rhombencephalon neural crest. EHDAA2:0004423 hp.json http://purl.obolibrary.org/obo/UBERON_0010258 UBERON:0010259 biolink:AnatomicalEntity 1st arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 1st arch mesenchyme. EMAPA:16129 hp.json mesenchyme derived from neural crest of mesenchyme of 1st arch|branchial arch 1 mesenchyme from neural crest|pharyngeal arch 1 mesenchyme from neural crest|neural crest derived arch 1 mesenchyme http://purl.obolibrary.org/obo/UBERON_0010259 HP:0009449 biolink:PhenotypicFeature obsolete Hypoplastic/small phalanges of the 3rd finger hp.json http://purl.obolibrary.org/obo/HP_0009449 HP:0010448 biolink:PhenotypicFeature Colonic atresia A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon. UMLS:C0266190|SNOMEDCT_US:37054000|MSH:C562562 hp.json Atresia of the large intestine|Large intestinal atresia http://purl.obolibrary.org/obo/HP_0010448 HP:0009448 biolink:PhenotypicFeature obsolete Aplasia of the phalanges of the 3rd finger hp.json http://purl.obolibrary.org/obo/HP_0009448 HP:0010447 biolink:PhenotypicFeature Anal fistula An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. UMLS:C0205929|MEDDRA:10002156|MSH:D012003|SNOMEDCT_US:72779005 hp.json Fistula in ano http://purl.obolibrary.org/obo/HP_0010447 hposlim_core HP:0010446 biolink:PhenotypicFeature Tricuspid stenosis A narrowing of the orifice of the tricuspid valve of the heart. MSH:D014264|SNOMEDCT_US:49915006|UMLS:C0040963|ICD-10:Q22.4|EPCC:06.01.92 hp.json http://purl.obolibrary.org/obo/HP_0010446 HP:0009445 biolink:PhenotypicFeature Symphalangism of the 3rd finger Fusion of two or more bones of the 3rd finger. UMLS:C4024358 hp.json Fused middle finger http://purl.obolibrary.org/obo/HP_0009445 HP:0009444 biolink:PhenotypicFeature Patchy sclerosis of 3rd finger phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger. UMLS:C4021471 hp.json Uneven increase in bone density in middle finger bone|Patchy sclerosis of middle finger phalanges|Patchy sclerosis of the phalanges of the 3rd finger http://purl.obolibrary.org/obo/HP_0009444 HP:0009447 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the 3rd finger UMLS:C4024356 hp.json Small middle finger phalanges|Absent/underdeveloped middle finger bone|Hypoplastic middle finger phalanges|Absent/small middle finger bone|Short middle finger phalanges http://purl.obolibrary.org/obo/HP_0009447 HP:0009446 biolink:PhenotypicFeature Triangular shaped phalanges of the 3rd finger Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024357 hp.json Triangular shaped bone of the middle finger http://purl.obolibrary.org/obo/HP_0009446 HP:0009441 biolink:PhenotypicFeature Bullet-shaped phalanges of the 3rd finger A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4024360 hp.json Bullet-shaped bones of middle finger http://purl.obolibrary.org/obo/HP_0009441 HP:0009440 biolink:PhenotypicFeature Broad phalanges of the 3rd finger Increased width of the phalanges of the 3rd finger. UMLS:C4021473 hp.json Wide bones of middle finger|Wide/broad middle finger phalanges http://purl.obolibrary.org/obo/HP_0009440 HP:0009443 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the 3rd finger Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger. UMLS:C4021472 hp.json Lytic defects of middle finger phalanges http://purl.obolibrary.org/obo/HP_0009443 HP:0009442 biolink:PhenotypicFeature Curved phalanges of the 3rd finger Curved appearance of the phalanges of the 3rd finger. UMLS:C4024359 hp.json Curved bones of middle finger http://purl.obolibrary.org/obo/HP_0009442 HP:0009461 biolink:PhenotypicFeature Short 3rd finger Hypoplastic/small 3rd (middle) finger. UMLS:C4021469 hp.json Short middle finger|Short 3rd finger|Hypoplastic/small 3rd finger http://purl.obolibrary.org/obo/HP_0009461 HP:0009460 biolink:PhenotypicFeature Aplasia of the 3rd finger Absent 3rd finger. UMLS:C4024346 hp.json Absent middle finger http://purl.obolibrary.org/obo/HP_0009460 HP:0010434 biolink:PhenotypicFeature Aplasia of the middle phalanx of the 2nd toe UMLS:C4023828 hp.json Absent middle bone of 2nd toe http://purl.obolibrary.org/obo/HP_0010434 UBERON:0010252 biolink:AnatomicalEntity 1st arch mandibular mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 1st arch mandibular mesenchyme. EHDAA2:0000037 hp.json http://purl.obolibrary.org/obo/UBERON_0010252 HP:0010433 biolink:PhenotypicFeature Short distal phalanx of the 2nd toe Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia. UMLS:C4021267 hp.json Short outermost bone of the 2nd toe|Hypoplastic/small distal phalanx of the 2nd toe|Short distal phalanx of the second toe http://purl.obolibrary.org/obo/HP_0010433 UBERON:0010253 biolink:AnatomicalEntity 1st arch maxillary mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 1st arch maxillary mesenchyme. EHDAA2:0000044 hp.json http://purl.obolibrary.org/obo/UBERON_0010253 HP:0010432 biolink:PhenotypicFeature Absent distal phalanx of the 2nd toe Absence of distal phalanx of the second toe as a result of developmental aplasia. UMLS:C4021268 hp.json Absent outermost bone of the 2nd toe|Absent distal phalanx of the second toe|Aplasia of the distal phalanx of the 2nd toe http://purl.obolibrary.org/obo/HP_0010432 HP:0010431 biolink:PhenotypicFeature Short phalanx of the 2nd toe Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia. UMLS:C4021269 hp.json Short phalanx of the second toe|Short 2nd toe bone|Hypoplastic/small phalanges of the 2nd toe http://purl.obolibrary.org/obo/HP_0010431 UBERON:0010256 biolink:AnatomicalEntity 4th arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 4th arch mesenchyme. EMAPA:16772|VHOG:0000580|EHDAA2:0000098 hp.json 4th pharyngeal arch mesenchyme derived from neural crest|mesenchyme derived from neural crest of mesenchyme of 4th arch|branchial arch 4 mesenchyme from neural crest|pharyngeal arch 4 mesenchyme from neural crest|neural crest derived arch 4 mesenchyme http://purl.obolibrary.org/obo/UBERON_0010256 HP:0010430 biolink:PhenotypicFeature Aplasia of the phalanges of the 2nd toe UMLS:C4023829 hp.json Absent 2nd toe bones http://purl.obolibrary.org/obo/HP_0010430 UBERON:0010257 biolink:AnatomicalEntity 6th arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 6th arch mesenchyme. EHDAA2:0004077 hp.json neural crest derived arch 6 mesenchyme|pharyngeal arch 6 mesenchyme from neural crest|branchial arch 6 mesenchyme from neural crest http://purl.obolibrary.org/obo/UBERON_0010257 UBERON:0010254 biolink:AnatomicalEntity 2nd arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 2nd arch mesenchyme. EHDAA2:0000068|EMAPA:16281 hp.json branchial arch 2 mesenchyme from neural crest|pharyngeal arch 2 mesenchyme from neural crest|neural crest derived arch 2 mesenchyme http://purl.obolibrary.org/obo/UBERON_0010254 UBERON:0010255 biolink:AnatomicalEntity 3rd arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 3rd arch mesenchyme. VHOG:0000571|EMAPA:16404|EHDAA2:0000083 hp.json 3rd pharyngeal arch mesenchyme derived from neural crest|mesenchyme derived from neural crest of mesenchyme of 3rd arch|branchial arch 3 mesenchyme from neural crest|pharyngeal arch 3 mesenchyme from neural crest|neural crest derived arch 3 mesenchyme http://purl.obolibrary.org/obo/UBERON_0010255 HP:0010438 biolink:PhenotypicFeature Abnormal ventricular septum morphology A structural abnormality of the interventricular septum. Fyler:1815|UMLS:C4021264 hp.json Abnormality of the ventricular septum|Ventricular septum abnormality|Abnormal interventricular septum morphology http://purl.obolibrary.org/obo/HP_0010438 HP:0009459 biolink:PhenotypicFeature Short proximal phalanx of the 3rd finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger. UMLS:C4021470 hp.json Short proximal phalanx of the third finger|Small proximal middle-finger phalanx|Short proximal middle-finger phalanx|Hypoplastic/small proximal phalanx of the 3rd finger|Short innermost bone of middle finger http://purl.obolibrary.org/obo/HP_0009459 HP:0010437 biolink:PhenotypicFeature Short proximal phalanx of the 2nd toe Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia. UMLS:C4021265 hp.json Short proximal phalanx of the second toe|Short innermost 2nd toe bone|Hypoplastic/small proximal phalanx of the 2nd toe http://purl.obolibrary.org/obo/HP_0010437 HP:0010436 biolink:PhenotypicFeature Aplasia of the proximal phalanx of the 2nd toe UMLS:C4023827 hp.json Absent innermost 2nd toe bone http://purl.obolibrary.org/obo/HP_0010436 HP:0010435 biolink:PhenotypicFeature Short middle phalanx of the 2nd toe Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia. UMLS:C4021266 hp.json Short middle phalanx of the second toe|Hypoplastic/small middle phalanx of the 2nd toe|Short middle 2nd toe bone http://purl.obolibrary.org/obo/HP_0010435 HP:0009456 biolink:PhenotypicFeature Triangular shaped proximal phalanx of the 3rd finger Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024349 hp.json Triangular shaped innermost bone of middle finger http://purl.obolibrary.org/obo/HP_0009456 HP:0009455 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanx of the 3rd finger Fusion of the proximal phalanx of the 3rd finger with another bone. UMLS:C4024350 hp.json Fused innermost bone of middle finger http://purl.obolibrary.org/obo/HP_0009455 HP:0009458 biolink:PhenotypicFeature Aplasia of the proximal phalanx of the 3rd finger Absence of the proximal phalanx of the 3rd finger. UMLS:C4024347 hp.json Absent innermost bone of middle finger http://purl.obolibrary.org/obo/HP_0009458 HP:0009457 biolink:PhenotypicFeature Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger UMLS:C4024348 hp.json Absent/small innermost bone of middle finger|Absent/underdeveloped innermost bone of middle finger http://purl.obolibrary.org/obo/HP_0009457 HP:0009452 biolink:PhenotypicFeature Curved proximal phalanx of the 3rd finger Curved appearance of the proximal phalanx of the 3rd finger. UMLS:C4024353 hp.json Curved innermost bone of middle finger http://purl.obolibrary.org/obo/HP_0009452 HP:0009451 biolink:PhenotypicFeature Bullet-shaped proximal phalanx of the 3rd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected. UMLS:C4024354 hp.json Bullet-shaped innermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009451 HP:0009454 biolink:PhenotypicFeature Patchy sclerosis of the proximal phalanx of the 3rd finger Uneven (irregular) increase in bone density of the proximal phalanx of the third finger. UMLS:C4024351 hp.json Uneven increase in bone density in the innermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009454 HP:0009453 biolink:PhenotypicFeature Osteolytic defects of the proximal phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger. UMLS:C4024352 hp.json http://purl.obolibrary.org/obo/HP_0009453 CHEBI:76823 biolink:ChemicalSubstance EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*). hp.json EC 6.3.1.* inhibitor|acid-ammonia (or amine) ligase inhibitors|acid-ammonia (or amine) ligase inhibitor|EC 6.3.1.* inhibitors|EC 6.3.1.* (acid-ammonia/amine ligase) inhibitors http://purl.obolibrary.org/obo/CHEBI_76823 3_STAR CHEBI:76824 biolink:ChemicalSubstance EC 6.4.1.* (carboxylase) inhibitor An EC 6.4.* (C-C bond-forming ligase) inhibitor that interferes with the action of a carboxylating enzyme (EC 6.4.1.*). hp.json EC 6.4.1.* inhibitor|EC 6.4.1.* (C-C bond forming ligase) inhibitor|EC 6.4.1.* inhibitors|EC 6.4.1.* (C-C bond forming ligase) inhibitors|inhibitors of ligases forming C-C bonds|inhibitor of ligases forming C-C bonds|EC 6.4.1.* (C-C bond-forming ligase) inhibitors|inhibitor of ligases forming C-C bonds (EC 6.4.1.*)|inhibitors of ligases forming C-C bonds (EC 6.4.1.*)|EC 6.4.1.* (carboxylase) inhibitors http://purl.obolibrary.org/obo/CHEBI_76824 3_STAR HP:0010423 biolink:PhenotypicFeature Partial duplication of the proximal phalanx of the 2nd toe Partial duplication of proximal phalanx of second toe. UMLS:C4021270 hp.json Partial duplication of the innermost 2nd toe bone|Partial duplication of the proximal phalanx of the second toe http://purl.obolibrary.org/obo/HP_0010423 HP:0010422 biolink:PhenotypicFeature Complete duplication of the proximal phalanx of the 2nd toe Complete duplication of proximal phalanx of second toe. UMLS:C4021271 hp.json Complete duplication of the proximal phalanx of the second toe|Complete duplication of the innermost 2nd toe bone http://purl.obolibrary.org/obo/HP_0010422 HP:0010421 biolink:PhenotypicFeature Duplication of the distal phalanx of the 2nd toe Partial or complete duplication of the distal phalanx of second toe. UMLS:C4021272 hp.json Duplication of the outermost bone of the 2nd toe|Partial/complete duplication of the distal phalanx of the 2nd toe http://purl.obolibrary.org/obo/HP_0010421 HP:0010420 biolink:PhenotypicFeature Triangular shaped distal phalanx of the 2nd toe UMLS:C4023836 hp.json Triangular shaped outermost 2nd toe bone http://purl.obolibrary.org/obo/HP_0010420 UBERON:0010243 biolink:AnatomicalEntity merocrine gland An exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged. Wikipedia:Merocrine|BTO:0002324|MA:0003041 hp.json http://purl.obolibrary.org/obo/UBERON_0010243 pheno_slim HP:0010429 biolink:PhenotypicFeature Complete duplication of the phalanges of the 2nd toe Complete duplication of a phalanx of second toe. UMLS:C4023830 hp.json Complete duplication of the 2nd toe bones http://purl.obolibrary.org/obo/HP_0010429 HP:0010428 biolink:PhenotypicFeature Partial duplication of phalanx of the 2nd toe Partial duplication of a phalanx of second toe. UMLS:C4023831 hp.json Partial duplication of 2nd toe bone http://purl.obolibrary.org/obo/HP_0010428 HP:0010427 biolink:PhenotypicFeature Partial duplication of the middle phalanx of the 2nd toe Partial duplication of middle phalanx of second toe. UMLS:C4023832 hp.json Partial duplication of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010427 HP:0009427 biolink:PhenotypicFeature Triangular shaped distal phalanx of the 3rd finger Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024370 hp.json Triangular shaped outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009427 HP:0009426 biolink:PhenotypicFeature Distal/middle symphalangism of 3rd finger Fusion of the terminal/distal and middle phalanges of the 3rd finger. UMLS:C4021477 hp.json Symphalangism of the distal and middle phalanges of the 3rd finger|Fused outermost and middle bones of middle finger http://purl.obolibrary.org/obo/HP_0009426 HP:0010426 biolink:PhenotypicFeature Complete duplication of the middle phalanx of the 2nd toe Complete duplication of middle phalanx of second toe. UMLS:C4023833 hp.json Complete duplication of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010426 HP:0009429 biolink:PhenotypicFeature Aplasia of the distal phalanx of the 3rd finger Absence of the distal phalanx of the middle (3rd) finger. UMLS:C4024368 hp.json Absent of the outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009429 HP:0010425 biolink:PhenotypicFeature Partial duplication of the distal phalanx of the 2nd toe Partial duplication of the distal phalanx of second toe. UMLS:C4023834 hp.json Partial duplication of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010425 HP:0009428 biolink:PhenotypicFeature Curved distal phalanx of the 3rd finger Curved appearance of the distal phalanx of the 3rd finger. UMLS:C4024369 hp.json Curved outermost bone of the 3rd finger http://purl.obolibrary.org/obo/HP_0009428 HP:0010424 biolink:PhenotypicFeature Complete duplication of the distal phalanx of the 2nd toe Complete duplication of the distal phalanx of second toe. UMLS:C4023835 hp.json Complete duplication of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010424 HP:0009423 biolink:PhenotypicFeature Bullet-shaped distal phalanx of the 3rd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected. UMLS:C4024372 hp.json Bullet-shaped outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009423 HP:0009422 biolink:PhenotypicFeature Broad distal phalanx of the 3rd finger Increased width of the distal phalanx of the 3rd finger. UMLS:C4024373 hp.json Broad outermost bone of middle finger http://purl.obolibrary.org/obo/HP_0009422 HP:0009425 biolink:PhenotypicFeature Patchy sclerosis of the distal phalanx of the 3rd finger Uneven (irregular) increase in bone density of the distal phalanx of the third finger. UMLS:C4024371 hp.json Uneven increase in bone density in the outermost bone of the 3rd finger http://purl.obolibrary.org/obo/HP_0009425 HP:0009424 biolink:PhenotypicFeature Osteolytic defects of the distal phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger. UMLS:C4021478 hp.json Lytic defect of terminal phalanx of middle finger http://purl.obolibrary.org/obo/HP_0009424 UBERON:0022278 biolink:AnatomicalEntity nucleus of pudendal nerve A nucleus in the ventral part of the anterior horn of the sacral region of the spinal cord that is the origin of the pudendal nerve. FMA:257031|FMA:77024 hp.json pudendal neural nucleus|nucleus of Onuf|Onuf's nucleus http://purl.obolibrary.org/obo/UBERON_0022278 HP:0009421 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanx of the 3rd finger UMLS:C4024374 hp.json Absent/underdeveloped outermost middle finger bone|Absent/small outermost middle finger bone http://purl.obolibrary.org/obo/HP_0009421 HP:0009420 biolink:PhenotypicFeature Triangular epiphyses of the 3rd finger A triangular appearance of the epiphyses of the 3rd finger of the hand. UMLS:C4021479 hp.json Delta-shaped epiphyses of the 3rd finger|Triangular end part of middle finger bone http://purl.obolibrary.org/obo/HP_0009420 UBERON:0022279 biolink:AnatomicalEntity strand of hair on external ear FMA:53671 hp.json hair of external ear|tragus hair|hair of tragus http://purl.obolibrary.org/obo/UBERON_0022279 CHEBI:76835 biolink:ChemicalSubstance EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor An EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor that uses NAD(+) or NADP(+) as acceptor (EC 1.1.1.*). hp.json EC 1.1.1.* inhibitor|EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+)acceptor) inhibitors|oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitors|EC 1.1.1.* inhibitors|oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitor http://purl.obolibrary.org/obo/CHEBI_76835 3_STAR UBERON:0010230 biolink:AnatomicalEntity eyeball of camera-type eye The core globe-shaped component of the camera-type eye. MIAA:0000283|Wikipedia:Globe_(human_eye)|VHOG:0001616|SCTID:244486005|FMA:12513 hp.json eyeball|globe|eye globe|bulbus oculi|eye http://purl.obolibrary.org/obo/UBERON_0010230 pheno_slim HP:0010412 biolink:PhenotypicFeature Duplication of the middle phalanx of the 2nd toe Partial or complete duplication of middle phalanx of second toe. UMLS:C4021273 hp.json Duplication of middle bone of 2nd toe|Partial/complete duplication of the middle phalanx of the 2nd toe http://purl.obolibrary.org/obo/HP_0010412 HP:0010411 biolink:PhenotypicFeature Triangular shaped middle phalanx of the 2nd toe UMLS:C4023844 hp.json Triangular shaped middle bone of 2nd toe http://purl.obolibrary.org/obo/HP_0010411 UBERON:0010231 biolink:AnatomicalEntity anatomical line between outer ears hp.json otic line|inter-otic line|inter-pinna line http://purl.obolibrary.org/obo/UBERON_0010231 HP:0010410 biolink:PhenotypicFeature Symphalangism affecting the middle phalanx of the 2nd toe UMLS:C4023845 hp.json Fused middle bone of 2nd toe http://purl.obolibrary.org/obo/HP_0010410 UBERON:0010234 biolink:AnatomicalEntity palatopharyngeus muscle The palatopharyngeus or palatopharyngeal or pharyngopalatinus muscle is a long, fleshy fasciculus, narrower in the middle than at either end, forming, with the mucous membrane covering its surface, the palatopharyngeal arch. FMA:46666 hp.json pharyngopalatinus muscle|pharyngopalatinus|musculus palatopharyngeus|palatopharyngeal muscle|palatopharyngeus http://purl.obolibrary.org/obo/UBERON_0010234 OBO:cl#has_high_plasma_membrane_amount biolink:NamedThing has_high_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). hp.json http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount UBERON:0010235 biolink:AnatomicalEntity uvular muscle The musculus uvulae (azygos uvulae) is a muscle of the soft palate. It arises from the posterior nasal spine of the palatine bones and from the palatine aponeurosis. It descends to be inserted into the uvula and functions to move and shape it. It is innervated by the pharyngeal branch of the vagus nerve via the pharyngeal plexus[WP]. FMA:46733 hp.json uvulae muscle|musculus uvulae muscle|azygos uvulae|musculus uvulae|m. uvulae|uvular muscle http://purl.obolibrary.org/obo/UBERON_0010235 UBERON:0010233 biolink:AnatomicalEntity stroma of thyroid gland The connective tissue that supports the lobules and follicles of the thyroid gland. FMA:86304 hp.json thyroid gland stroma|thyroid stroma http://purl.obolibrary.org/obo/UBERON_0010233 UBERON:0010227 biolink:AnatomicalEntity future cardiac atrium Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. TAO:0002228|FMA:71005|ZFA:0001718 hp.json primordial cardiac atrium|presumptive atrium heart tube|primordial atrium http://purl.obolibrary.org/obo/UBERON_0010227 HP:0010419 biolink:PhenotypicFeature Symphalangism affecting the distal phalanx of the 2nd toe UMLS:C4023837 hp.json Fused outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010419 UBERON:0010225 biolink:AnatomicalEntity thalamic complex A nuclear complex which in mammals consists of four parts, the hypothalamus, epithalamus, ventral thalamus, and dorsal thalamus[WP,modified]. FMA:258745|EHDAA2:0004469 hp.json http://purl.obolibrary.org/obo/UBERON_0010225 HP:0010418 biolink:PhenotypicFeature Patchy sclerosis of the distal phalanx of the 2nd toe UMLS:C4023838 hp.json Uneven increase in bone density in the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010418 HP:0010417 biolink:PhenotypicFeature Osteolytic defects of the distal phalanx of the 2nd toe UMLS:C4023839 hp.json http://purl.obolibrary.org/obo/HP_0010417 HP:0009438 biolink:PhenotypicFeature Absent middle phalanx of 3rd finger Absence of the middle phalanx of the middle (3rd) finger. UMLS:C4021475 hp.json Absent middle bone of middle finger|Aplasia of the middle phalanx of the 3rd finger|Absent middle phalanx of middle finger http://purl.obolibrary.org/obo/HP_0009438 HP:0010416 biolink:PhenotypicFeature Curved distal phalanx of the 2nd toe A deviation from the normal straight form of the distal phalanx of the 2nd toe. UMLS:C4023840 hp.json Curved outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010416 HP:0009437 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle phalanx of the 3rd finger UMLS:C4024361 hp.json Absent/underdeveloped middle bone of the middle finger|Absent/small middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009437 HP:0010415 biolink:PhenotypicFeature Bullet-shaped distal phalanx of the 2nd toe An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4023841 hp.json Bullet-shaped outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010415 HP:0010414 biolink:PhenotypicFeature Broad distal phalanx of the 2nd toe UMLS:C4023842 hp.json Wide outermost bone of the 2nd toe|Broad outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010414 HP:0010413 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanx of the 2nd toe UMLS:C4023843 hp.json Absent/small outermost 2nd toe bone|Absent/underdeveloped outermost 2nd toe bone http://purl.obolibrary.org/obo/HP_0010413 HP:0009439 biolink:PhenotypicFeature Short middle phalanx of the 3rd finger Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. UMLS:C4021474 hp.json Hypoplastic/small middle phalanx of the 3rd finger|Short middle bone of middle finger|Brachymesophalangy III (finger) http://purl.obolibrary.org/obo/HP_0009439 HP:0009434 biolink:PhenotypicFeature Patchy sclerosis of the middle phalanx of the 3rd finger Uneven (irregular) increase in bone density of the middle phalanx of the third finger. UMLS:C4024364 hp.json Uneven increase in bone density in the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009434 CHEBI:15891 biolink:ChemicalSubstance taurine An amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid. It is a naturally occurring amino acid derived from methionine and cysteine metabolism. An abundant component of fish- and meat-based foods, it has been used as an oral supplement in the treatment of disorders such as cystic fibrosis and hypertension. Drug_Central:4486|PMID:21761941|PMID:3106924|PMID:15911239|PMID:2122710|DrugBank:DB01956|PMID:19309105|PMID:6198473|Gmelin:82121|PMID:17053427|PMID:27291853|PMID:8692051|PMID:11842876|PMID:11162030|PMID:7588651|PMID:2370482|Reaxys:1751215|Beilstein:1751215|PMID:15780050|PMID:10325611|PMID:2494044|CAS:107-35-7|PMID:3393260|PMID:16444816|PMID:27535560|PMID:24027187|PMID:14992292|PMID:10098958|PMID:16923232|CAS:107-35-7|PMID:18171928|PMID:19940987|PMID:9635063|PMID:16169526|PMID:10349454|CAS:107-35-7|MetaCyc:TAURINE|HMDB:HMDB0000251|PMID:19212411|Wikipedia:Taurine|PDBeChem:TAU|PMID:27334436|PMID:12297216|PMID:8818047|PMID:27412799|PMID:27380030|PMID:12834252|PMID:27345710|PMID:11918831|PMID:18060526|KEGG:C00245|PMID:17997039|PMID:11931837|PMID:17081118|KEGG:D00047|PMID:12499349|PMID:22770225|PMID:15503229|KNApSAcK:C00048188|PMID:10827156|PMID:27471162|PMID:19074966|PMID:17875433 hp.json 2-aminoethanesulfonic acid|beta-aminoethylsulfonic acid|Taurine|Aminoethylsulfonic acid|2-Aminoethanesulfonic acid|2-aminoethyl sulfonate http://purl.obolibrary.org/obo/CHEBI_15891 3_STAR UBERON:0022284 biolink:AnatomicalEntity lacrimal gland bud The single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation (Int Rev Cytol. 1996;168:1-80. Cell biology of the harderian gland). EMAPA:35464 hp.json http://purl.obolibrary.org/obo/UBERON_0022284 HP:0009433 biolink:PhenotypicFeature Osteolytic defects of the middle phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger. UMLS:C4024365 hp.json http://purl.obolibrary.org/obo/HP_0009433 HP:0009436 biolink:PhenotypicFeature Triangular shaped middle phalanx of the 3rd finger Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024362 hp.json Triangular shaped middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009436 UBERON:0022287 biolink:AnatomicalEntity tear film An aqueous substance that covers the anterior surface of the eyeball, keeping the cornea wet. hp.json precorneal film http://purl.obolibrary.org/obo/UBERON_0022287 HP:0009435 biolink:PhenotypicFeature Symphalangism of middle phalanx of 3rd finger Fusion of the middle phalanx of the 3rd finger with another bone. UMLS:C4024363 hp.json Fused middle bone of middle finger http://purl.obolibrary.org/obo/HP_0009435 HP:0009430 biolink:PhenotypicFeature Broad middle phalanx of the 3rd finger Increased width of the middle phalanx of the 3rd finger. UMLS:C4021476 hp.json Broad middle bone of middle finger|Wide/broad middle phalanx of middle-finger http://purl.obolibrary.org/obo/HP_0009430 UBERON:0022288 biolink:AnatomicalEntity surface of eyeball FMA:58315 hp.json surface of region of wall of eyeball http://purl.obolibrary.org/obo/UBERON_0022288 HP:0009432 biolink:PhenotypicFeature Curved middle phalanx of the 3rd finger Curved appearance of the middle phalanx of the 3rd (middle) finger. UMLS:C4024366 hp.json Curved middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009432 HP:0009431 biolink:PhenotypicFeature Bullet-shaped middle phalanx of the 3rd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected. UMLS:C4024367 hp.json Bullet-shaped middle bone of middle finger http://purl.obolibrary.org/obo/HP_0009431 HP:0010481 biolink:PhenotypicFeature Urethral valve The presence of an abnormal membrane obstructing the urethra. SNOMEDCT_US:297163001|UMLS:C0266345 hp.json http://purl.obolibrary.org/obo/HP_0010481 HP:0009492 biolink:PhenotypicFeature Fragmentation of the epiphyses of the 2nd finger Fragmented appearance of the epiphyses of the 2nd finger. UMLS:C4024333 hp.json Fragmentation of end part of the index finger http://purl.obolibrary.org/obo/HP_0009492 HP:0010480 biolink:PhenotypicFeature Urethral fistula The presence of an abnormal connection between the urethra and another organ or the skin. UMLS:C0041970|SNOMEDCT_US:14981000 hp.json http://purl.obolibrary.org/obo/HP_0010480 HP:0009491 biolink:PhenotypicFeature Enlarged epiphyses of the 2nd finger Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms. UMLS:C4024334 hp.json Enlarged end part of the index finger http://purl.obolibrary.org/obo/HP_0009491 HP:0009494 biolink:PhenotypicFeature Ivory epiphyses of the 2nd finger Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024331 hp.json Increased bone density of end part of the index finger bone http://purl.obolibrary.org/obo/HP_0009494 HP:0009493 biolink:PhenotypicFeature Irregular epiphyses of the 2nd finger Irregular radiographic opacity of the epiphyses of the 2nd finger. UMLS:C4024332 hp.json Irregular end part of the index finger http://purl.obolibrary.org/obo/HP_0009493 HP:0009490 biolink:PhenotypicFeature Cone-shaped epiphyses of the 2nd finger A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. UMLS:C4024335 hp.json Cone-shaped end part of the index finger http://purl.obolibrary.org/obo/HP_0009490 HP:0010489 biolink:PhenotypicFeature Absent palmar crease The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). UMLS:C4021262 hp.json Absent palm lines|Absence of the palmar creases|Aplasia of the palmar creases http://purl.obolibrary.org/obo/HP_0010489 hposlim_core HP:0010488 biolink:PhenotypicFeature Aplasia/Hypoplasia of the palmar creases Absence or underdevelopment of the palmar creases. UMLS:C4023806 hp.json Absent/underdeveloped palm crease|Absent/small palm crease http://purl.obolibrary.org/obo/HP_0010488 HP:0010487 biolink:PhenotypicFeature Small hypothenar eminence Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. UMLS:C1861395 hp.json Hypoplasia of the hypothenar eminence|Hypothenar hypoplasia http://purl.obolibrary.org/obo/HP_0010487 hposlim_core HP:0010486 biolink:PhenotypicFeature Abnormality of the hypothenar eminence An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). UMLS:C4023807 hp.json http://purl.obolibrary.org/obo/HP_0010486 HP:0010485 biolink:PhenotypicFeature Hyperextensibility at elbow The ability of the elbow joint to move beyond its normal range of motion. UMLS:C4023808 hp.json http://purl.obolibrary.org/obo/HP_0010485 HP:0010484 biolink:PhenotypicFeature Hypertrophy of the upper limb Abnormal increase in size of the upper limbs (due to an increase of the size of cells). SNOMEDCT_US:298745009|UMLS:C0575518 hp.json Increased size of upper limb http://purl.obolibrary.org/obo/HP_0010484 HP:0010483 biolink:PhenotypicFeature Amniotic constriction rings of arms Amniotic constriction rings affecting the arms. UMLS:C4023809 hp.json http://purl.obolibrary.org/obo/HP_0010483 HP:0010482 biolink:PhenotypicFeature Acromelia of the upper limbs Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments. UMLS:C4023810 hp.json http://purl.obolibrary.org/obo/HP_0010482 CHEBI:15841 biolink:ChemicalSubstance polypeptide A peptide containing ten or more amino acid residues. KEGG:C00403 hp.json Polypeptide|Polypeptid|polipeptido|polypeptides http://purl.obolibrary.org/obo/CHEBI_15841 3_STAR HP:0009489 biolink:PhenotypicFeature Bracket epiphyses of the 2nd finger An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4021466 hp.json Bracket-epiphyses of index finger|Bracket shaped end part of index finger http://purl.obolibrary.org/obo/HP_0009489 HP:0009488 biolink:PhenotypicFeature Absent epiphyses of the 2nd finger Absence of the epiphyses of the 2nd finger. UMLS:C4024336 hp.json Absent end part of index finger http://purl.obolibrary.org/obo/HP_0009488 HP:0009485 biolink:PhenotypicFeature Radial deviation of the hand or of fingers of the hand UMLS:C4024337 hp.json http://purl.obolibrary.org/obo/HP_0009485 HP:0009484 biolink:PhenotypicFeature Deviation of the hand or of fingers of the hand Displacement of the hand or of fingers of the hand from their normal position. UMLS:C4024338 hp.json Displaced hand or fingers of the hand http://purl.obolibrary.org/obo/HP_0009484 HP:0009487 biolink:PhenotypicFeature Ulnar deviation of the hand Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). SNOMEDCT_US:249757009|UMLS:C0241521 hp.json Ulnar deviation of the hands|Ulnar deviation of hands http://purl.obolibrary.org/obo/HP_0009487 hposlim_core HP:0009486 biolink:PhenotypicFeature Radial deviation of the hand An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). SNOMEDCT_US:299035006|UMLS:C0575803 hp.json Radial deviation of hands http://purl.obolibrary.org/obo/HP_0009486 hposlim_core HP:0010470 biolink:PhenotypicFeature Supernumerary testes The presence of more than two testes. SNOMEDCT_US:17471001|UMLS:C0266430 hp.json Extra testes|Polyorchidism http://purl.obolibrary.org/obo/HP_0010470 UBERON:0010291 biolink:AnatomicalEntity layer of sclera . Wikipedia:Sclera#Histology hp.json http://purl.obolibrary.org/obo/UBERON_0010291 HP:0010478 biolink:PhenotypicFeature Abnormality of the urachus Abnormality of the urachus. UMLS:C4023811 hp.json http://purl.obolibrary.org/obo/HP_0010478 HP:0010477 biolink:PhenotypicFeature Aplasia of the bladder Aplasia (absence) of the urinary bladder. UMLS:C4023812 hp.json Absent bladder http://purl.obolibrary.org/obo/HP_0010477 UBERON:0010294 biolink:AnatomicalEntity scleral endothelium An endothelium that is part of a sclera. hp.json http://purl.obolibrary.org/obo/UBERON_0010294 HP:0010476 biolink:PhenotypicFeature Aplasia/Hypoplasia of the bladder Absence or underdevelopment of the urinary bladder. UMLS:C4023813 hp.json Absent/small bladder|Absent/underdeveloped bladder http://purl.obolibrary.org/obo/HP_0010476 UBERON:0010295 biolink:AnatomicalEntity substantia propria of sclera A stroma that is part of a sclera. UMLS:C1704397|FMA:58365|SCTID:368851004|NCIT:C33652 hp.json subsantia propria|stroma of sclera|subsantia propria sclerae|scleral stroma|substantia propria sclerae http://purl.obolibrary.org/obo/UBERON_0010295 HP:0010475 biolink:PhenotypicFeature Cloacal exstrophy Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. SNOMEDCT_US:20815007|UMLS:C0345217 hp.json http://purl.obolibrary.org/obo/HP_0010475 HP:0010474 biolink:PhenotypicFeature Bladder stones Buildups of minerals that form in the urinary bladder. MSH:D001744|SNOMEDCT_US:70650003|UMLS:C0005683 hp.json http://purl.obolibrary.org/obo/HP_0010474 MPATH:1000 biolink:NamedThing pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. hp.json http://purl.obolibrary.org/obo/MPATH_1000 HP:0010473 biolink:PhenotypicFeature Porphyrinuria Abnormally increased excretion of porphyrins in the urine. UMLS:C0151861|SNOMEDCT_US:44574006 hp.json http://purl.obolibrary.org/obo/HP_0010473 HP:0010472 biolink:PhenotypicFeature Abnormal circulating porphyrin concentration An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. UMLS:C4023814 hp.json http://purl.obolibrary.org/obo/HP_0010472 HP:0010471 biolink:PhenotypicFeature Oligosacchariduria Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. UMLS:C4023815 hp.json http://purl.obolibrary.org/obo/HP_0010471 UBERON:0010299 biolink:AnatomicalEntity scleral mesenchyme Mesenchyme surrounding the developing optic cup which develops into the sclera. hp.json http://purl.obolibrary.org/obo/UBERON_0010299 HP:0010479 biolink:PhenotypicFeature Patent urachus Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus. SNOMEDCT_US:398316009|UMLS:C0266357 hp.json Persistent urachus http://purl.obolibrary.org/obo/HP_0010479 HP:0009499 biolink:PhenotypicFeature Abnormality of the epiphysis of the distal phalanx of the 2nd finger UMLS:C4021464 hp.json Epiphyseal abnormality of terminal index finger phalanx|Abnormality of the end part of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009499 HP:0009496 biolink:PhenotypicFeature Small epiphyses of the 2nd finger Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms. UMLS:C4024330 hp.json Small end part of the index finger http://purl.obolibrary.org/obo/HP_0009496 HP:0009495 biolink:PhenotypicFeature Pseudoepiphysis of the 2nd finger A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4021465 hp.json Accessory index finger epiphysis http://purl.obolibrary.org/obo/HP_0009495 HP:0009498 biolink:PhenotypicFeature Triangular epiphyses of the 2nd finger A triangular appearance of the epiphyses of the 2nd finger of the hand. UMLS:C4024328 hp.json Triangular end part of the index finger http://purl.obolibrary.org/obo/HP_0009498 HP:0009497 biolink:PhenotypicFeature Stippling of the epiphyses of the 2nd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger. UMLS:C4024329 hp.json Speckled calcifications in end part of the index finger http://purl.obolibrary.org/obo/HP_0009497 HP:0009470 biolink:PhenotypicFeature Contracture of the metacarpophalangeal joint of the 3rd finger Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue. UMLS:C4024343 hp.json http://purl.obolibrary.org/obo/HP_0009470 UBERON:0009291 biolink:AnatomicalEntity cartilaginous vertebral centrum Cartilaginous form of a vertebral centrum, a skeletal element that functionally replaces the notochord[VSAP,modified]. hp.json cartilaginous centrum of vertebra|postcaudal cartilaginous centrum http://purl.obolibrary.org/obo/UBERON_0009291 HP:0009471 biolink:PhenotypicFeature Contracture of the proximal interphalangeal joint of the 3rd finger Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. UMLS:C4021467 hp.json Camptodactyly of the 3rd finger|Camptodactyly of the third finger http://purl.obolibrary.org/obo/HP_0009471 UBERON:0009292 biolink:AnatomicalEntity embryonic nasal process EHDAA:4776|EMAPA:16680|FMA:293971|EHDAA2:0000581 hp.json nasal placode http://purl.obolibrary.org/obo/UBERON_0009292 UBERON:0010285 biolink:AnatomicalEntity midbrain basal plate Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. EFO:0003567|EHDAA2:0004375|ZFA:0000761|DHBA:12322|TAO:0000761 hp.json basal plate midbrain|basal plate midbrain region http://purl.obolibrary.org/obo/UBERON_0010285 efo_slim UBERON:0010286 biolink:AnatomicalEntity midbrain neural tube Portion of neural tube that gives rise to the midbrain. TAO:0007039|ZFA:0007039 hp.json http://purl.obolibrary.org/obo/UBERON_0010286 HP:0010465 biolink:PhenotypicFeature Precocious puberty in females The onset of puberty before the age of 8 years in girls. SNOMEDCT_US:19911007|UMLS:C0271616 hp.json http://purl.obolibrary.org/obo/HP_0010465 HP:0010464 biolink:PhenotypicFeature Streak ovary A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. UMLS:C0266371|SNOMEDCT_US:70550008 hp.json http://purl.obolibrary.org/obo/HP_0010464 UBERON:0010284 biolink:AnatomicalEntity lacrimal punctum A minute orifice on the summit of the papillae lacrimales, which is the commencement point of the lacrimal canaliculi. FMA:59365 hp.json lacrimal point|lacrimal puncta|puncta lacrimalia http://purl.obolibrary.org/obo/UBERON_0010284 pheno_slim HP:0010463 biolink:PhenotypicFeature Aplasia of the ovary Aplasia, that is failure to develop, of the ovary. UMLS:C0266368|SNOMEDCT_US:12017008 hp.json Absent ovary|Aplasia of the ovaries|Bilateral absent ovaries http://purl.obolibrary.org/obo/HP_0010463 HP:0010462 biolink:PhenotypicFeature Aplasia/Hypoplasia of the ovary Aplasia or developmental hypoplasia of the ovary. UMLS:C4023818 hp.json Absent/underdeveloped ovary|Absent/small ovary http://purl.obolibrary.org/obo/HP_0010462 HP:0010461 biolink:PhenotypicFeature Abnormality of the male genitalia Abnormality of the male genital system. UMLS:C4023819 hp.json Abnormality of the male genitalia|Abnormal male genitals http://purl.obolibrary.org/obo/HP_0010461 HP:0010460 biolink:PhenotypicFeature Abnormality of the female genitalia Abnormality of the female genital system. UMLS:C4023820 hp.json http://purl.obolibrary.org/obo/HP_0010460 HP:0010469 biolink:PhenotypicFeature Absent testis Testis not palpable in the scrotum or inguinal canal. UMLS:C4023816 hp.json Absent testes|Aplasia of the testes|Absence of palpable testicules http://purl.obolibrary.org/obo/HP_0010469 HP:0010468 biolink:PhenotypicFeature Aplasia/Hypoplasia of the testes Absence or underdevelopment of the testes. UMLS:C4023817 hp.json Absent/underdeveloped testes|Absent/small testes http://purl.obolibrary.org/obo/HP_0010468 HP:0009467 biolink:PhenotypicFeature Radial deviation of the 2nd finger Displacement of the 2nd finger towards the radial side. UMLS:C1844709 hp.json Radially deviated index finger http://purl.obolibrary.org/obo/HP_0009467 HP:0009466 biolink:PhenotypicFeature Radial deviation of finger Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. UMLS:C1836189 hp.json Radially deviated fingers|Radially deviated phalanges http://purl.obolibrary.org/obo/HP_0009466 hposlim_core HP:0009469 biolink:PhenotypicFeature Contracture of the distal interphalangeal joint of the 3rd finger Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. UMLS:C4024344 hp.json Contracture of the outermost hinge joint of the 3rd finger http://purl.obolibrary.org/obo/HP_0009469 HP:0009468 biolink:PhenotypicFeature Deviation of the 2nd finger Displacement of the 2nd finger from its normal position. UMLS:C4021468 hp.json Displaced index finger|Deviated index finger http://purl.obolibrary.org/obo/HP_0009468 HP:0009463 biolink:PhenotypicFeature Ulnar deviation of the 3rd finger Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). UMLS:C3554614 hp.json Ulnar deviation of middle fingers http://purl.obolibrary.org/obo/HP_0009463 HP:0009462 biolink:PhenotypicFeature Radial deviation of the 3rd finger Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). UMLS:C4024345 hp.json Inward turned middle finger http://purl.obolibrary.org/obo/HP_0009462 HP:0009465 biolink:PhenotypicFeature Ulnar deviation of finger Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. SNOMEDCT_US:367510009|SNOMEDCT_US:276662009|UMLS:C0231679 hp.json Finger bends toward pinky|Ulnar Drift http://purl.obolibrary.org/obo/HP_0009465 hposlim_core UBERON:0022236 biolink:AnatomicalEntity peduncle of thalamus MBA:365 hp.json thalamic peduncle http://purl.obolibrary.org/obo/UBERON_0022236 HP:0009464 biolink:PhenotypicFeature Ulnar deviation of the 2nd finger Displacement of the 2nd (index) finger towards the ulnar side. UMLS:C1844891 hp.json Ulnar angulation of the index finger|Ulnar deviation of index fingers|Medially deviated index finger|Second finger ulnar deviation http://purl.obolibrary.org/obo/HP_0009464 UBERON:0022235 biolink:AnatomicalEntity peduncle of diencephalon FMA:62444 hp.json diencephalon peduncle http://purl.obolibrary.org/obo/UBERON_0022235 HP:0009483 biolink:PhenotypicFeature Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal. UMLS:C4024339 hp.json Fused innermost bones of middle finger with middle long bone of hand http://purl.obolibrary.org/obo/HP_0009483 NCBITaxon:2698737 biolink:OrganismalEntity Sar GC_ID:1 hp.json SAR supergroup http://purl.obolibrary.org/obo/NCBITaxon_2698737 HP:0009482 biolink:PhenotypicFeature Proximal/middle symphalangism of 3rd finger Fusion of the proximal and middle phalanges of the 3rd finger. UMLS:C4024340 hp.json Fused of innermost and middle bones of middle finger http://purl.obolibrary.org/obo/HP_0009482 HP:0010456 biolink:PhenotypicFeature Abnormal greater sciatic notch morphology An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. UMLS:C4023822 hp.json Abnormality of the greater sacrosciatic notch|Abnormality of the sacroiliac notch|Abnormality of greater sciatic notch http://purl.obolibrary.org/obo/HP_0010456 HP:0010455 biolink:PhenotypicFeature Steep acetabular roof An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance. UMLS:C3150931 hp.json http://purl.obolibrary.org/obo/HP_0010455 HP:0010454 biolink:PhenotypicFeature Acetabular spurs The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. UMLS:C3808270 hp.json http://purl.obolibrary.org/obo/HP_0010454 hposlim_core UBERON:0010272 biolink:AnatomicalEntity hyoid apparatus A group of bones comprised of hyoid body and two pairs of cornua (i.e. greater cornua and lesser cornua), and lies just below the tongue, above the thyroid cartilage. EMAPA:37600|http://palaeos.com/vertebrates/bones/gill_arches/images/ReptileHyoids.gif|AAO:0000682|SCTID:410035009|MA:0003037|AAO:0000225 hp.json apparatus hyobranchialis|hyobranchial apparatus|hyolingual system|apparatus hyoideus|apparatus hyoideus http://purl.obolibrary.org/obo/UBERON_0010272 HP:0010453 biolink:PhenotypicFeature Pelvic bone asymmetry Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology. UMLS:C4021263 hp.json Asymmetric pelvis|Pelvic asymmetry http://purl.obolibrary.org/obo/HP_0010453 hposlim_core UBERON:0010273 biolink:AnatomicalEntity zone of hyoid bone A zone of bone organ that is part of a hyoid bone. SCTID:119534005|FMA:59494 hp.json hyoid bone zone http://purl.obolibrary.org/obo/UBERON_0010273 HP:0010452 biolink:PhenotypicFeature Ectopia of the spleen An abnormal (non-anatomic) location of the spleen. UMLS:C0266632|SNOMEDCT_US:65146007 hp.json Ectopic spleen|Abnormal spleen location http://purl.obolibrary.org/obo/HP_0010452 HP:0010451 biolink:PhenotypicFeature Aplasia/Hypoplasia of the spleen Absence or underdevelopment of the spleen. UMLS:C4023823 hp.json Absent/underdeveloped spleen|Absent/small spleen http://purl.obolibrary.org/obo/HP_0010451 UBERON:0010276 biolink:AnatomicalEntity space in vertebral column Any anatomical space that is part of a vertebral column. AAO:0000700 hp.json vertebral conduit|vertebral column opening http://purl.obolibrary.org/obo/UBERON_0010276 HP:0010450 biolink:PhenotypicFeature Esophageal stenosis An abnormal narrowing of the lumen of the esophagus. SNOMEDCT_US:63305008|MSH:D004940|UMLS:C0014866 hp.json Narrowing of the oesophagus|Narrowing of the esophagus http://purl.obolibrary.org/obo/HP_0010450 HP:0010459 biolink:PhenotypicFeature True hermaphroditism The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. MSH:D050090|SNOMEDCT_US:18978002|UMLS:C0266361 hp.json Testicular and ovarian tissue present http://purl.obolibrary.org/obo/HP_0010459 HP:0010458 biolink:PhenotypicFeature Female pseudohermaphroditism Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. SNOMEDCT_US:8800006|UMLS:C0238394|MSH:D058489 hp.json http://purl.obolibrary.org/obo/HP_0010458 HP:0010457 biolink:PhenotypicFeature obsolete Widening of the sacrosciatic notch hp.json http://purl.obolibrary.org/obo/HP_0010457 HP:0009478 biolink:PhenotypicFeature Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal. UMLS:C4024341 hp.json Fused innermost bone of ring finger with 4th long bone of hand http://purl.obolibrary.org/obo/HP_0009478 HP:0009477 biolink:PhenotypicFeature Proximal/middle symphalangism of 4th finger Fusion of the proximal and middle phalanges of the 4th finger. UMLS:C4024342 hp.json Fused innermost and middle bone of fourth finger http://purl.obolibrary.org/obo/HP_0009477 CHEBI:76874 biolink:ChemicalSubstance EC 2.1.2.* (hydroxymethyl-, formyl- and related transferases) inhibitor An EC 2.1.* (C1-transferase) inhibitor that interferes with the action of any hydroxymethyl-, formyl- and related transferase (EC 2.1.2.*). hp.json EC 2.1.2.* inhibitors|hydroxymethyl-, formyl- and related transferases (EC 2.1.2.*) inhibitor|EC 2.1.2.* (hydroxymethyl-, formyl- and related transferases) inhibitors|hydroxymethyl-, formyl- and related transferases (EC 2.1.2.*) inhibitors|EC 2.1.2.* inhibitor http://purl.obolibrary.org/obo/CHEBI_76874 3_STAR HP:0009473 biolink:PhenotypicFeature Joint contracture of the hand Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. UMLS:C0158113|SNOMEDCT_US:86414002|MEDDRA:10010821 hp.json Contractures of the hands|Contractures involving the hands http://purl.obolibrary.org/obo/HP_0009473 hposlim_core GO:1902018 biolink:BiologicalProcess negative regulation of cilium assembly Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly. hp.json down-regulation of cilium biogenesis|negative regulation of cilium biogenesis|downregulation of ciliogenesis|down regulation of cilium biogenesis|down-regulation of cilium assembly|down regulation of ciliogenesis|downregulation of cilium biogenesis|down-regulation of ciliogenesis|down regulation of cilium assembly|negative regulation of ciliogenesis|downregulation of cilium assembly|inhibition of ciliogenesis|inhibition of cilium biogenesis|inhibition of cilium assembly http://purl.obolibrary.org/obo/GO_1902018 GO:1902019 biolink:BiologicalProcess regulation of cilium-dependent cell motility Any process that modulates the frequency, rate or extent of cilium-dependent cell motility. hp.json regulation of cilium cell motility|regulation of ciliary cell motility http://purl.obolibrary.org/obo/GO_1902019 GO:1902017 biolink:BiologicalProcess regulation of cilium assembly Any process that modulates the frequency, rate or extent of cilium assembly. hp.json regulation of ciliogenesis|regulation of cilium biogenesis http://purl.obolibrary.org/obo/GO_1902017 GO:1904677 biolink:BiologicalProcess positive regulation of somatic stem cell division Any process that activates or increases the frequency, rate or extent of somatic stem cell division. hp.json upregulation of somatic stem cell renewal|up regulation of somatic stem cell division|up-regulation of somatic stem cell division|activation of somatic stem cell division|up-regulation of somatic stem cell renewal|up regulation of somatic stem cell renewal|positive regulation of somatic stem cell renewal|activation of somatic stem cell renewal|upregulation of somatic stem cell division http://purl.obolibrary.org/obo/GO_1904677 GO:1904676 biolink:BiologicalProcess negative regulation of somatic stem cell division Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division. hp.json down-regulation of somatic stem cell renewal|negative regulation of somatic stem cell renewal|down regulation of somatic stem cell renewal|downregulation of somatic stem cell division|inhibition of somatic stem cell renewal|downregulation of somatic stem cell renewal|down regulation of somatic stem cell division|inhibition of somatic stem cell division|down-regulation of somatic stem cell division http://purl.obolibrary.org/obo/GO_1904676 GO:1904675 biolink:BiologicalProcess regulation of somatic stem cell division Any process that modulates the frequency, rate or extent of somatic stem cell division. hp.json regulation of somatic stem cell renewal http://purl.obolibrary.org/obo/GO_1904675 GO:0015931 biolink:BiologicalProcess nucleobase-containing compound transport The directed movement of nucleobases, nucleosides, nucleotides and nucleic acids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json nucleobase, nucleoside, nucleotide and nucleic acid transport http://purl.obolibrary.org/obo/GO_0015931 goslim_pir|goslim_yeast GO:1902020 biolink:BiologicalProcess negative regulation of cilium-dependent cell motility Any process that stops, prevents or reduces the frequency, rate or extent of cilium-dependent cell motility. hp.json negative regulation of cilium cell motility|down-regulation of ciliary cell motility|down regulation of ciliary cell motility|negative regulation of ciliary cell motility|inhibition of ciliary cell motility|downregulation of ciliary cell motility http://purl.obolibrary.org/obo/GO_1902020 CHEBI:50248 biolink:ChemicalSubstance hematologic agent Drug that acts on blood and blood-forming organs and those that affect the hemostatic system. hp.json hematologic agents http://purl.obolibrary.org/obo/CHEBI_50248 3_STAR CHEBI:50249 biolink:ChemicalSubstance anticoagulant An agent that prevents blood clotting. hp.json anticoagulante|anticoagulants http://purl.obolibrary.org/obo/CHEBI_50249 3_STAR GO:1902033 biolink:BiologicalProcess regulation of hematopoietic stem cell proliferation Any process that modulates the frequency, rate or extent of hematopoietic stem cell proliferation. hp.json regulation of hemopoietic stem cell proliferation http://purl.obolibrary.org/obo/GO_1902033 GO:1904693 biolink:BiologicalProcess midbrain morphogenesis The developmental process by which a midbrain is generated and organized. hp.json MB morphogenesis|mesencephalon morphogenesis http://purl.obolibrary.org/obo/GO_1904693 GO:1902038 biolink:BiologicalProcess positive regulation of hematopoietic stem cell differentiation Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell differentiation. hp.json upregulation of haemopoietic stem cell differentiation|positive regulation of haematopoietic stem cell differentiation|up-regulation of hematopoietic stem cell differentiation|up regulation of haematopoietic stem cell differentiation|positive regulation of haemopoietic stem cell differentiation|up regulation of hematopoietic stem cell differentiation|up-regulation of hemopoietic stem cell differentiation|activation of hematopoietic stem cell differentiation|activation of haematopoietic stem cell differentiation|up-regulation of haematopoietic stem cell differentiation|up regulation of haemopoietic stem cell differentiation|up regulation of hemopoietic stem cell differentiation|activation of hemopoietic stem cell differentiation|up-regulation of haemopoietic stem cell differentiation|positive regulation of hemopoietic stem cell differentiation|activation of haemopoietic stem cell differentiation|upregulation of hematopoietic stem cell differentiation|upregulation of hemopoietic stem cell differentiation|upregulation of haematopoietic stem cell differentiation http://purl.obolibrary.org/obo/GO_1902038 GO:1902036 biolink:BiologicalProcess regulation of hematopoietic stem cell differentiation Any process that modulates the frequency, rate or extent of hematopoietic stem cell differentiation. hp.json regulation of hemopoietic stem cell differentiation|regulation of haematopoietic stem cell differentiation|regulation of haemopoietic stem cell differentiation http://purl.obolibrary.org/obo/GO_1902036 GO:1902037 biolink:BiologicalProcess negative regulation of hematopoietic stem cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic stem cell differentiation. hp.json inhibition of hematopoietic stem cell differentiation|downregulation of hematopoietic stem cell differentiation|downregulation of hemopoietic stem cell differentiation|inhibition of hemopoietic stem cell differentiation|downregulation of haematopoietic stem cell differentiation|downregulation of haemopoietic stem cell differentiation|down regulation of haematopoietic stem cell differentiation|down-regulation of hematopoietic stem cell differentiation|inhibition of haematopoietic stem cell differentiation|down regulation of hematopoietic stem cell differentiation|down-regulation of hemopoietic stem cell differentiation|down regulation of haemopoietic stem cell differentiation|negative regulation of hemopoietic stem cell differentiation|down-regulation of haematopoietic stem cell differentiation|negative regulation of haematopoietic stem cell differentiation|inhibition of haemopoietic stem cell differentiation|down regulation of hemopoietic stem cell differentiation|down-regulation of haemopoietic stem cell differentiation|negative regulation of haemopoietic stem cell differentiation http://purl.obolibrary.org/obo/GO_1902037 GO:1902034 biolink:BiologicalProcess negative regulation of hematopoietic stem cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic stem cell proliferation. hp.json down-regulation of hematopoietic stem cell proliferation|down-regulation of hemopoietic stem cell proliferation|down regulation of hematopoietic stem cell proliferation|negative regulation of hemopoietic stem cell proliferation|down regulation of hemopoietic stem cell proliferation|inhibition of hematopoietic stem cell proliferation|downregulation of hematopoietic stem cell proliferation|inhibition of hemopoietic stem cell proliferation|downregulation of hemopoietic stem cell proliferation http://purl.obolibrary.org/obo/GO_1902034 GO:1902035 biolink:BiologicalProcess positive regulation of hematopoietic stem cell proliferation Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell proliferation. hp.json activation of hemopoietic stem cell proliferation|positive regulation of hemopoietic stem cell proliferation|upregulation of hematopoietic stem cell proliferation|upregulation of hemopoietic stem cell proliferation|up-regulation of hematopoietic stem cell proliferation|up regulation of hematopoietic stem cell proliferation|up-regulation of hemopoietic stem cell proliferation|activation of hematopoietic stem cell proliferation|up regulation of hemopoietic stem cell proliferation http://purl.obolibrary.org/obo/GO_1902035 CHEBI:25274 biolink:ChemicalSubstance methylamines hp.json methylated amines http://purl.obolibrary.org/obo/CHEBI_25274 3_STAR CHEBI:37257 biolink:ChemicalSubstance phytanate A branched-chain saturated fatty acid anion that is the conjugate base of phytanic acid, arising from deprotonation of the carboxylic acid group. KEGG:C01607|PMID:5130448|Reaxys:3669982|Beilstein:3669982 hp.json 3,7,11,15-tetramethylpalmitate|phytanate anion|3,7,11,15-tetramethylhexadecanoate|3,7,11,15-tetramethylhexadecanoate http://purl.obolibrary.org/obo/CHEBI_37257 3_STAR GO:0015925 biolink:MolecularActivity galactosidase activity Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. hp.json http://purl.obolibrary.org/obo/GO_0015925 HP:0010401 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanx of the 2nd toe UMLS:C4023853 hp.json Fused innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010401 UBERON:0010220 biolink:AnatomicalEntity arytenoid pre-cartilage condensation EMAPA:17387|EHDAA2:0000144|VHOG:0000998 hp.json arytenoid swelling pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010220 HP:0010400 biolink:PhenotypicFeature Patchy sclerosis of the proximal phalanx of the 2nd toe UMLS:C4023854 hp.json Uneven increase in bone density in the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010400 UBERON:0010223 biolink:AnatomicalEntity left pupil A pupil that is part of a left eye. FMA:58254 hp.json pupil of left eye http://purl.obolibrary.org/obo/UBERON_0010223 UBERON:0010224 biolink:AnatomicalEntity right pupil A pupil that is part of a right eye. FMA:58253 hp.json pupil of right eye http://purl.obolibrary.org/obo/UBERON_0010224 UBERON:0010221 biolink:AnatomicalEntity laryngeal associated mesenchyme EHDAA2:0004085 hp.json http://purl.obolibrary.org/obo/UBERON_0010221 UBERON:0010222 biolink:AnatomicalEntity anatomical line between pupils hp.json inter-pupillary line|interpupillary line http://purl.obolibrary.org/obo/UBERON_0010222 pheno_slim HP:0010409 biolink:PhenotypicFeature Patchy sclerosis of the middle phalanx of the 2nd toe UMLS:C4023846 hp.json Uneven increase in bone density in the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010409 HP:0010408 biolink:PhenotypicFeature Osteolytic defects of the middle phalanx of the 2nd toe UMLS:C4023847 hp.json http://purl.obolibrary.org/obo/HP_0010408 HP:0009408 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the 4th finger UMLS:C4024384 hp.json Absent/small ring finger bones|Absent/underdeveloped ring finger bones http://purl.obolibrary.org/obo/HP_0009408 UBERON:0010214 biolink:AnatomicalEntity cricoid pre-cartilage condensation EHDAA2:0000327 hp.json http://purl.obolibrary.org/obo/UBERON_0010214 HP:0010407 biolink:PhenotypicFeature Curved middle phalanx of the 2nd toe A deviation from the normal straight form of the middle phalanx of the 2nd toe. UMLS:C4023848 hp.json Curved middle bone of 2nd toe http://purl.obolibrary.org/obo/HP_0010407 HP:0010406 biolink:PhenotypicFeature Bullet-shaped middle phalanx of the 2nd toe An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4023849 hp.json Bullet-shaped middle bone of 2nd toe http://purl.obolibrary.org/obo/HP_0010406 UBERON:0010215 biolink:AnatomicalEntity arytenoid swellings Paired primordial elevations, on either side of the embryonic larynx, within which the arytenoid cartilages are formed. EHDAA2:0000146 hp.json http://purl.obolibrary.org/obo/UBERON_0010215 HP:0010405 biolink:PhenotypicFeature Broad middle phalanx of the 2nd toe UMLS:C4023850 hp.json Broad middle bone of 2nd toe http://purl.obolibrary.org/obo/HP_0010405 HP:0009405 biolink:PhenotypicFeature Bullet-shaped phalanges of the 4th finger A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4024386 hp.json Bullet-shaped of bone of ring finger http://purl.obolibrary.org/obo/HP_0009405 HP:0010404 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle phalanx of the 2nd toe UMLS:C4023851 hp.json Absent/underdeveloped middle bone of 2nd toe|Absent/small middle bone of 2nd toe http://purl.obolibrary.org/obo/HP_0010404 HP:0009404 biolink:PhenotypicFeature Broad phalanges of the 4th finger Increased width of the phalanges of the 4th finger. UMLS:C4024387 hp.json Broad bones of ring finger http://purl.obolibrary.org/obo/HP_0009404 HP:0009407 biolink:PhenotypicFeature Triangular shaped phalanges of the 4th finger Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024385 hp.json Triangular shaped bone of ring finger http://purl.obolibrary.org/obo/HP_0009407 HP:0010403 biolink:PhenotypicFeature Duplication of the proximal phalanx of the 2nd toe Partial or complete duplication of proximal phalanx of second toe. UMLS:C4021274 hp.json Duplication of the proximal phalanx of the second toe|Partial/complete duplication of the proximal phalanx of the 2nd toe|Duplication of innermost 2nd toe bone http://purl.obolibrary.org/obo/HP_0010403 HP:0009406 biolink:PhenotypicFeature Patchy sclerosis of 4th finger phalanx Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger. UMLS:C4021481 hp.json Uneven increase in bone density in ring finger bone|Patchy sclerosis of the phalanges of the 4th finger http://purl.obolibrary.org/obo/HP_0009406 UBERON:0010219 biolink:AnatomicalEntity thyroid pre-cartilage condensation EHDAA2:0004088 hp.json http://purl.obolibrary.org/obo/UBERON_0010219 HP:0010402 biolink:PhenotypicFeature Triangular shaped proximal phalanx of the 2nd toe UMLS:C4023852 hp.json Triangular shaped innermost 2nd toe bone http://purl.obolibrary.org/obo/HP_0010402 HP:0009401 biolink:PhenotypicFeature Small epiphyses of the 4th finger Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms. UMLS:C4024389 hp.json Small end part of ring finger bone http://purl.obolibrary.org/obo/HP_0009401 HP:0009400 biolink:PhenotypicFeature Pseudoepiphyses of the 4th finger A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024390 hp.json http://purl.obolibrary.org/obo/HP_0009400 HP:0009403 biolink:PhenotypicFeature Triangular epiphyses of the 4th finger A triangular appearance of the epiphyses of the 4th finger of the hand. UMLS:C4021482 hp.json Delta-shaped epiphyses of the 4th finger|Triangular end part of ring finger bone http://purl.obolibrary.org/obo/HP_0009403 HP:0009402 biolink:PhenotypicFeature Stippling of the epiphyses of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger. UMLS:C4024388 hp.json Speckled calcifications in end part of ring finger bone http://purl.obolibrary.org/obo/HP_0009402 UBERON:0010212 biolink:AnatomicalEntity laryngeal apparatus Apparatus located between the lungs and the buccal cavity. This apparatus is composed of a pair of arytenoid cartilages that are supported by the cricoid ring. EHDAA2:0000904|AAO:0000267 hp.json laryngeal cartilage system http://purl.obolibrary.org/obo/UBERON_0010212 UBERON:0010213 biolink:AnatomicalEntity laryngeal pre-cartilage condensation hp.json http://purl.obolibrary.org/obo/UBERON_0010213 HP:0009419 biolink:PhenotypicFeature Stippling of the epiphyses of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger. UMLS:C4024375 hp.json Speckled calcifications in end part of middle finger bone http://purl.obolibrary.org/obo/HP_0009419 CHEBI:37246 biolink:ChemicalSubstance elemental sodium hp.json http://purl.obolibrary.org/obo/CHEBI_37246 3_STAR UBERON:0010204 biolink:AnatomicalEntity tail vasculature A vasculature that is part of a post-anal tail. TAO:0005037|XAO:0004151|ZFA:0005037 hp.json tail vasculature|post-vent vasculature http://purl.obolibrary.org/obo/UBERON_0010204 CHEBI:37247 biolink:ChemicalSubstance elemental potassium hp.json http://purl.obolibrary.org/obo/CHEBI_37247 3_STAR HP:0009416 biolink:PhenotypicFeature Ivory epiphyses of the 3rd finger Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024377 hp.json Increased bone density of end part of the middle finger bone http://purl.obolibrary.org/obo/HP_0009416 HP:0009415 biolink:PhenotypicFeature Irregular epiphyses of the 3rd finger Irregular radiographic opacity of the epiphyses of the 3rd finger. UMLS:C4024378 hp.json Irregular end part of middle finger bone http://purl.obolibrary.org/obo/HP_0009415 HP:0009418 biolink:PhenotypicFeature Small epiphyses of the 3rd finger Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms. UMLS:C4024376 hp.json Small end part of middle finger bone http://purl.obolibrary.org/obo/HP_0009418 HP:0009417 biolink:PhenotypicFeature Pseudoepiphyses of the 3rd finger A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4021480 hp.json Pseudoepiphyses of middle finger phalanges http://purl.obolibrary.org/obo/HP_0009417 HP:0009412 biolink:PhenotypicFeature Cone-shaped epiphyses of the 3rd finger A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. UMLS:C4024381 hp.json Cone-shaped end part of middle finger bone http://purl.obolibrary.org/obo/HP_0009412 HP:0009411 biolink:PhenotypicFeature Bracket epiphyses of the 3rd finger An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024382 hp.json Bracket shaped end part of middle finger bone http://purl.obolibrary.org/obo/HP_0009411 HP:0009414 biolink:PhenotypicFeature Fragmentation of the epiphyses of the 3rd finger Fragmented appearance of the epiphyses of the 3rd finger. UMLS:C4024379 hp.json Fragmentation of end part of middle finger bone http://purl.obolibrary.org/obo/HP_0009414 HP:0009413 biolink:PhenotypicFeature Enlarged epiphyses of the 3rd finger Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms. UMLS:C4024380 hp.json Enlarged end part of middle finger bone http://purl.obolibrary.org/obo/HP_0009413 HP:0009410 biolink:PhenotypicFeature Absent epiphyses of the 3rd finger Absence of the epiphyses of the 3rd finger. UMLS:C4024383 hp.json Absent end part of middle finger bone http://purl.obolibrary.org/obo/HP_0009410 CHEBI:25235 biolink:ChemicalSubstance monomethoxybenzene Compounds containing a benzene skeleton substituted with one methoxy group. hp.json monomethoxybenzenes http://purl.obolibrary.org/obo/CHEBI_25235 3_STAR CHEBI:27897 biolink:ChemicalSubstance tryptophan An alpha-amino acid that is alanine bearing an indol-3-yl substituent at position 3. PMID:17439666|KEGG:C00806|LINCS:LSM-36836|Wikipedia:Tryptophan|Gmelin:4532|Beilstein:86196|CAS:54-12-6|Reaxys:86196|CAS:54-12-6|CAS:54-12-6|PMID:22264337|KNApSAcK:C00001396 hp.json W|tryptophan|alpha-Amino-beta-(3-indolyl)-propionic acid|Trp|Tryptophan|tryptophane|alpha-amino-beta-3-indolepropionic acid|beta-3-indolylalanine|2-amino-3-(1H-indol-3-yl)propanoic acid|triptofano|Htrp http://purl.obolibrary.org/obo/CHEBI_27897 3_STAR UBERON:0009210 biolink:AnatomicalEntity pharyngeal membrane A thin fold of ectoderm and endoderm that separates the pharyngeal pouches from the pharyngeal clefts in a developing embryo. NCIT:C34251|UMLS:C1519040|EMAPA:32749|FMA:295758 hp.json pharyngeal membrane|branchial arch membrane|branchial membrane http://purl.obolibrary.org/obo/UBERON_0009210 pheno_slim UBERON:0009213 biolink:AnatomicalEntity pharyngeal membrane of 1st arch A pharyngeal membrane that separates the first pharyngeal cleft from the first pharyngeal pouch. EMAPA:16121|VHOG:0001427|EMAPA:17281|EMAPA:16992|EHDAA:3788 hp.json tympanic membrane primordium|1st pharyngeal membrane|1st branchial membrane|future tympanic membrane http://purl.obolibrary.org/obo/UBERON_0009213 CHEBI:52845 biolink:ChemicalSubstance cyclic organic group An organic group that consists of a closed ring. It may be a substituent or a skeleton. hp.json cyclic organic groups http://purl.obolibrary.org/obo/CHEBI_52845 3_STAR UBERON:0009205 biolink:AnatomicalEntity lateral nasal process mesenchyme Mesenchyme that is part of a lateral nasal prominence. EMAPA:16807|EHDAA2:0000917|FMA:312665 hp.json mesenchyme of latero-nasal process http://purl.obolibrary.org/obo/UBERON_0009205 UBERON:0009206 biolink:AnatomicalEntity lateral nasal process surface ectoderm An ectoderm that is part of a lateral nasal prominence. EMAPA:16806|EHDAA2:0000918 hp.json ectoderm of latero-nasal process http://purl.obolibrary.org/obo/UBERON_0009206 GO:1902093 biolink:NamedThing positive regulation of flagellated sperm motility hp.json http://purl.obolibrary.org/obo/GO_1902093 UBERON:0009200 biolink:AnatomicalEntity limb epidermis The limb epidermis is the outer epithelial layer of the limb, it is a complex stratified squamous epithelium. EMAPA:32728 hp.json http://purl.obolibrary.org/obo/UBERON_0009200 UBERON:0009201 biolink:AnatomicalEntity nephric duct A nephric duct is a tube that drains a primitive kidney[GO]. EMAPA:16577 hp.json http://purl.obolibrary.org/obo/UBERON_0009201 UBERON:0009203 biolink:AnatomicalEntity internasal suture A suture joining the nasal bones. FMA:52959 hp.json internasal suture of skull|sutura internasalis|sutura internasalis|inter-nasal suture|nasal suture http://purl.obolibrary.org/obo/UBERON_0009203 UBERON:0009204 biolink:AnatomicalEntity medial nasal process mesenchyme Mesenchyme that is part of a medial nasal prominence. FMA:312659|EHDAA2:0001077|EMAPA:16810 hp.json http://purl.obolibrary.org/obo/UBERON_0009204 CL:0000127 biolink:Cell astrocyte A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury. BTO:0000099|FMA:54537|CALOHA:TS-0060 hp.json astrocytic glia http://purl.obolibrary.org/obo/CL_0000127 CL:0000128 biolink:Cell oligodendrocyte A class of large neuroglial (macroglial) cells in the central nervous system. Form the insulating myelin sheath of axons in the central nervous system. BTO:0000962|FMA:54540|CALOHA:TS-0709 hp.json OLs|oligodendroglia http://purl.obolibrary.org/obo/CL_0000128 CL:0000129 biolink:Cell microglial cell A central nervous system macrophage found in the parenchyma of the central nervous system. Marker include CD11b-positive, F4/80-positive, and CD68-positive. BTO:0000962|BTO:0000078|FMA:54540|FMA:54539 hp.json brain macrophage|brain-resident macrophage|MF.microglia.CNS|microglia|hortega cells|microgliocyte http://purl.obolibrary.org/obo/CL_0000129 CL:0000120 biolink:Cell granule cell BTO:0003393 hp.json http://purl.obolibrary.org/obo/CL_0000120 CL:0000121 biolink:Cell Purkinje cell The output neuron of the cerebellar cortex. BTO:0001011|FMA:67969|CALOHA:TS-0845 hp.json Purkinje neuron|cerebellum Purkinje cell|cerebellar Purkinje cell|Purkinje's cell http://purl.obolibrary.org/obo/CL_0000121 CL:0000123 biolink:Cell neuron associated cell (sensu Vertebrata) hp.json http://purl.obolibrary.org/obo/CL_0000123 CL:0000125 biolink:Cell glial cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. CALOHA:TS-0415|BTO:0002606|FMA:54536 hp.json neuroglia|neuroglial cell http://purl.obolibrary.org/obo/CL_0000125 CL:0000126 biolink:Cell macroglial cell A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together. BTO:0000771|CALOHA:TS-2027|FMA:54538 hp.json macrogliocyte http://purl.obolibrary.org/obo/CL_0000126 CHEBI:132362 biolink:ChemicalSubstance citrate(4-) A citrate anion obtained by deprotonation of the three carboxy groups as well as the hydroxy group of citric acid. Chemspider:34552020 hp.json citric acid tetraanion|2-oxido-1,2,3-propanetricarboxylate|2-oxidopropane-1,2,3-tricarboxylate http://purl.obolibrary.org/obo/CHEBI_132362 3_STAR GO:1904606 biolink:BiologicalProcess fat cell apoptotic process Any apoptotic process in a fat cell. hp.json adipocyte apoptotic process|adipose cell apoptotic process|adipocyte apoptosis|adipose cell apoptosis|fat cell apoptosis http://purl.obolibrary.org/obo/GO_1904606 CL:0000138 biolink:Cell chondrocyte Skeletogenic cell that is terminally differentiated, secretes an avascular, GAG-rich matrix, is embedded in cartilage tissue matrix, retains the ability to divide, and develops from a chondroblast cell. CALOHA:TS-0138|FMA:66782|BTO:0000249 hp.json cartilage cell http://purl.obolibrary.org/obo/CL_0000138 CL:0000133 biolink:Cell neurectodermal cell Ectoderm destined to be nervous tissue. hp.json neurectoderm cell http://purl.obolibrary.org/obo/CL_0000133 CL:0000134 biolink:Cell mesenchymal stem cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. BTO:0003298|FMA:70546|BTO:0002625 hp.json colony-forming unit-fibroblast|MSC|BMSC|mesenchymal stromal cells|mesenchymal precursor cell|mesenchymal stem cell|mesenchymal stromal cell|mesenchymal progenitor cells|stem cells, mesenchymal|bone marrow stromal cells|marrow stromal cells|CFU-F http://purl.obolibrary.org/obo/CL_0000134 CL:0000136 biolink:Cell fat cell A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides. FMA:63880|CALOHA:TS-0012|BTO:0000443 hp.json adipocyte|adipose cell http://purl.obolibrary.org/obo/CL_0000136 CL:0000107 biolink:Cell autonomic neuron A neuron whose cell body is within an autonomic ganglion. FMA:80121 hp.json http://purl.obolibrary.org/obo/CL_0000107 CL:0000100 biolink:Cell motor neuron An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement. BTO:0000312|FMA:83617|WBbt:0005409 hp.json motoneuron http://purl.obolibrary.org/obo/CL_0000100 CL:0000101 biolink:Cell sensory neuron Any neuron having a sensory function; an afferent neuron conveying sensory impulses. WBbt:0005759|BTO:0001037|FMA:84649|FBbt:00005124 hp.json http://purl.obolibrary.org/obo/CL_0000101 GO:0015872 biolink:BiologicalProcess dopamine transport The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. hp.json http://purl.obolibrary.org/obo/GO_0015872 GO:0015874 biolink:BiologicalProcess norepinephrine transport The directed movement of norepinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Norepinephrine (3,4-dihydroxyphenyl-2-aminoethanol) is a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine. hp.json noradrenaline transport|levarterenol transport http://purl.obolibrary.org/obo/GO_0015874 CL:0000103 biolink:Cell bipolar neuron A type of interneuron that has two neurites, usually an axon and a dendrite, extending from opposite poles of an ovoid cell body. FMA:67282 hp.json http://purl.obolibrary.org/obo/CL_0000103 BDS_subset CL:0000104 biolink:Cell multipolar neuron A neuron with three or more neurites, usually an axon and multiple dendrites. FMA:67287 hp.json http://purl.obolibrary.org/obo/CL_0000104 BDS_subset CL:0000117 biolink:Cell CNS neuron (sensu Vertebrata) hp.json http://purl.obolibrary.org/obo/CL_0000117 CL:0000118 biolink:Cell basket cell Basket cells are inhibitory GABAergic interneurons of the brain. In general, dendrites of basket cells are free branching and contain smooth spines. Axons are highly branched. The branched axonal arborizations give rise to basket-like structures that surround the soma of the target cell. Basket cells form axo-somatic synapses, meaning their synapses target somas of other cells. hp.json http://purl.obolibrary.org/obo/CL_0000118 BDS_subset CL:0000119 biolink:Cell cerebellar Golgi cell Large intrinsic neuron located in the granule layer of the cerebellar cortex that extends its dendrites into the molecular layer where they receive contact from parallel fibers. The axon of the Golgi cell ramifies densely in the granule layer and enters into a complex arrangement with mossy fiber terminals and granule cell dendrites to form the cerebellar glomerulus. Llinas, Walton and Lang. In The Synaptic Organization of the Brain. 5th ed. 2004. hp.json Golgi cell|cerebellum Golgi cell|cerebellar Golgi neuron|Golgi neuron http://purl.obolibrary.org/obo/CL_0000119 CL:0000111 biolink:Cell peripheral neuron A neuron that is part of nerve found outside the central nervous system. FMA:84664 hp.json http://purl.obolibrary.org/obo/CL_0000111 CL:0000114 biolink:Cell surface ectodermal cell FMA:72552 hp.json cell of surface ectoderm|surface ectoderm cell http://purl.obolibrary.org/obo/CL_0000114 CL:0000115 biolink:Cell endothelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. FMA:66772|BTO:0001176|CALOHA:TS-0278 hp.json endotheliocyte http://purl.obolibrary.org/obo/CL_0000115 UBERON:0000935 biolink:AnatomicalEntity anterior commissure A bundle of myelinated nerve fibers passing transversely through the lamina terminalis and connecting symmetrical parts of the two cerebral hemispheres; it consists of a smaller anterior part (pars anterior commissurae anterioris) and a larger posterior part (pars posterior commissurae anterioris). ZFA:0001108|BM:Tel-AC|DHBA:10559|UMLS:C0152335|TAO:0001108|NLX:144088|MA:0002722|EMAPA:19038|BAMS:AG|HBA:9221|UMLS:C0152335|DMBA:17751|FMA:61961|BAMS:Ac|BAMS:AC|VHOG:0001558|BAMS:ac|NCIT:C32086|BTO:0002169|BIRNLEX:1557 hp.json commissura rostral|precommisure|commissura anterior|commissura rostralis|rostral commissure|commissura anterior cerebri|anterior cerebral commissure|anterior commissural nucleus|AC|paleocortical commissure http://purl.obolibrary.org/obo/UBERON_0000935 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas UBERON:0000930 biolink:AnatomicalEntity stomodeum Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. XAO:0000269|TGMA:0000135|TAO:0001290|NCIT:C34306|FMA:295846|EMAPA:16263|FBbt:00000439|UMLS:C1514977|EHDAA2:0001929|Wikipedia:Stomodeum|ZFA:0001290|BTO:0004224 hp.json primitive oral cavity|stomatodeum|stomodaeum|mouth primordium|stomodeal-hypophyseal primordium|oral pit|oral ectoderm|primitive oral cavity|mouth pit|stomatodeum http://purl.obolibrary.org/obo/UBERON_0000930 uberon_slim|vertebrate_core|grouping_class|pheno_slim UBERON:0000931 biolink:AnatomicalEntity proctodeum Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. FBbt:00000123|Wikipedia:Proctodeum|ZFA:0000066|NCIT:C34278|UMLS:C0231054|TAO:0000066|VHOG:0000139|EHDAA2:0000121|AAO:0011087|XAO:0001019|EMAPA:25038 hp.json proctodaeum|amnioproctodeal invagination|embryonic proctodaeum|anal pit|anus porus http://purl.obolibrary.org/obo/UBERON_0000931 uberon_slim UBERON:0000933 biolink:AnatomicalEntity pharyngeal muscle A muscle that acts on the pharynx[WP, vetted]. EMAPA:18963|MA:0001797|FMA:46619|GAID:154|UMLS:C0031346|EFO:0003504|MESH:D010609|ZFA:0000172|BTO:0001048|TAO:0000172|NCIT:C13075 hp.json branchial muscles|muscle of pharynx|muscle organ of pharynx|tunica muscularis pharyngis|branchial muscle|pharynx muscle organ|musculus pharyngis|pharynx muscle|musculi pharyngis http://purl.obolibrary.org/obo/UBERON_0000933 pheno_slim|efo_slim GO:0015850 biolink:BiologicalProcess organic hydroxy compound transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. hp.json organic alcohol transport http://purl.obolibrary.org/obo/GO_0015850 GO:0015851 biolink:BiologicalProcess nucleobase transport The directed movement of a nucleobase, any nitrogenous base that is a constituent of a nucleoside, nucleotide, or nucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json nucleobase transmembrane transport http://purl.obolibrary.org/obo/GO_0015851 CHEBI:50177 biolink:ChemicalSubstance dermatologic drug A drug used to treat or prevent skin disorders or for the routine care of skin. hp.json dermatologic agent|dermatologic drugs|dermatological agent http://purl.obolibrary.org/obo/CHEBI_50177 3_STAR UBERON:0000923 biolink:AnatomicalEntity germ layer A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. BILA:0000035|UMLS:C1708239|VHOG:0001223|AAO:0000480|FMA:69069|NCIT:C54105|Wikipedia:Germ_layer|EMAPA:36033|FBbt:00000110|ZFA:0001122|GAID:1303|MESH:D005855|UMLS:C0920502|NCIT:C12950|XAO:0003011|BTO:0000556|TAO:0001122 hp.json primary germ layer|embryonic tissue|embryonic germ layers|germinal layer|embryonic germ layer http://purl.obolibrary.org/obo/UBERON_0000923 uberon_slim|vertebrate_core UBERON:0000924 biolink:AnatomicalEntity ectoderm Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. MESH:D004475|CALOHA:TS-0216|BILA:0000036|MAT:0000173|EHDAA2:0000428|NCIT:C12703|ZFA:0000016|UMLS:C0013574|MIAA:0000173|VHOG:0000153|EMAPA:16069|FBbt:00000111|XAO:0000001|TAO:0000016|EFO:0000414|GAID:1304|AAO:0000137|BTO:0000315|EV:0100003|Wikipedia:Ectoderm|SCTID:362851007|MAT:0000155|FMA:69070 hp.json embryonic ectoderm http://purl.obolibrary.org/obo/UBERON_0000924 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0000925 biolink:AnatomicalEntity endoderm Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. MAT:0000175|Wikipedia:Endoderm|NCIT:C12706|XAO:0000090|UMLS:C0014144|MESH:D004707|ZFA:0000017|MIAA:0000175|VHOG:0000154|FBbt:00000125|SCTID:362855003|EHDAA2:0000436|TAO:0000017|GAID:1305|AAO:0000139|CALOHA:TS-0273|EV:0100005|BTO:0000800|EFO:0002545|EMAPA:16062|FMA:69071|BILA:0000038 hp.json entoderm|entoderm http://purl.obolibrary.org/obo/UBERON_0000925 efo_slim|uberon_slim|vertebrate_core|pheno_slim UBERON:0000926 biolink:AnatomicalEntity mesoderm The middle germ layer of the embryo, between the endoderm and ectoderm. EMAPA:16083|BILA:0000037|CALOHA:TS-0623|TAO:0000041|EFO:0001981|MAT:0000174|EHDAA:183|UMLS:C0025485|Wikipedia:Mesoderm|EHDAA:160|SCTID:362854004|BTO:0000839|FBbt:00000126|MIAA:0000174|GAID:522|VHOG:0000152|EHDAA2:0001128|EV:0100006|AAO:0000304|EHDAA:124|MESH:D008648|ZFA:0000041|NCIT:C12750|FMA:69072|XAO:0000050 hp.json entire mesoderm|embryonic mesoderm|mesodermal mantle|entire mesoderm http://purl.obolibrary.org/obo/UBERON_0000926 efo_slim|uberon_slim|vertebrate_core|pheno_slim UBERON:0000922 biolink:AnatomicalEntity embryo Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. EHDAA2_RETIRED:0003236|BILA:0000056|OpenCyc:Mx4rwP1ceZwpEbGdrcN5Y29ycA|GAID:963|EMAPA:16039|Wikipedia:Embryo|UMLS:C0013935|ZFA:0000103|FMA:69068|XAO:0000113|EHDAA:38|SCTID:57991002|MAT:0000226|BSA:0000039|OGEM:000001|MIAA:0000019|MESH:D004622|FBbt:00000052|EHDAA2:0000002|BTO:0000379|EFO:0001367|http://neurolex.org/wiki/Category:Embryonic_organism|CALOHA:TS-0229|AAO:0011035|VHOG:0001766|NCIT:C28147|AEO:0000169 hp.json developmental tissue|developing organism|embryonic organism http://purl.obolibrary.org/obo/UBERON_0000922 uberon_slim|vertebrate_core|pheno_slim|efo_slim GO:1904649 biolink:BiologicalProcess regulation of fat cell apoptotic process Any process that modulates the frequency, rate or extent of fat cell apoptotic process. hp.json regulation of adipose cell apoptosis|regulation of fat cell apoptosis|regulation of adipocyte apoptosis|regulation of adipose cell apoptotic process|regulation of adipocyte apoptotic process http://purl.obolibrary.org/obo/GO_1904649 UBERON:0000929 biolink:AnatomicalEntity pharyngeal branch of vagus nerve Motor nerve of the pharynx, arises from the upper part of the ganglion nodosum, and consists principally of filaments from the cranial portion of the accessory nerve. FMA:6234 hp.json ramus pharyngeus|vagal pharyngeal branch|vagus nerve pharyngeal branch|ramus pharyngeus|tenth cranial nerve pharyngeal branch|pharyngeal branch|ramus pharyngeus nervi vagi|pharyngeal branch of vagus|pharyngeal branch of inferior vagal ganglion|ramus pharyngealis nervi vagalis http://purl.obolibrary.org/obo/UBERON_0000929 uberon_slim GO:1904651 biolink:BiologicalProcess positive regulation of fat cell apoptotic process Any process that activates or increases the frequency, rate or extent of fat cell apoptotic process. hp.json up regulation of fat cell apoptotic process|up-regulation of adipose cell apoptotic process|activation of adipose cell apoptotic process|activation of adipose cell apoptosis|up-regulation of fat cell apoptotic process|upregulation of adipose cell apoptosis|upregulation of adipocyte apoptotic process|activation of fat cell apoptosis|activation of fat cell apoptotic process|upregulation of fat cell apoptosis|up-regulation of adipocyte apoptosis|positive regulation of adipose cell apoptosis|up regulation of adipocyte apoptosis|upregulation of adipose cell apoptotic process|positive regulation of fat cell apoptosis|up regulation of adipose cell apoptosis|upregulation of fat cell apoptotic process|up-regulation of adipocyte apoptotic process|positive regulation of adipocyte apoptosis|up regulation of fat cell apoptosis|positive regulation of adipose cell apoptotic process|up-regulation of adipose cell apoptosis|up regulation of adipocyte apoptotic process|up-regulation of fat cell apoptosis|up regulation of adipose cell apoptotic process|upregulation of adipocyte apoptosis|positive regulation of adipocyte apoptotic process|activation of adipocyte apoptotic process|activation of adipocyte apoptosis http://purl.obolibrary.org/obo/GO_1904651 GO:1904650 biolink:BiologicalProcess negative regulation of fat cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of fat cell apoptotic process. hp.json down regulation of adipocyte apoptosis|down regulation of fat cell apoptosis|downregulation of adipose cell apoptotic process|down-regulation of adipose cell apoptosis|negative regulation of adipose cell apoptosis|downregulation of fat cell apoptotic process|down-regulation of adipocyte apoptotic process|negative regulation of adipocyte apoptotic process|down-regulation of fat cell apoptosis|downregulation of adipocyte apoptosis|negative regulation of fat cell apoptosis|down regulation of adipose cell apoptotic process|down regulation of adipocyte apoptotic process|inhibition of adipose cell apoptotic process|inhibition of adipose cell apoptosis|down regulation of fat cell apoptotic process|down-regulation of adipose cell apoptotic process|inhibition of fat cell apoptosis|negative regulation of adipose cell apoptotic process|inhibition of fat cell apoptotic process|inhibition of adipocyte apoptotic process|inhibition of adipocyte apoptosis|down-regulation of fat cell apoptotic process|downregulation of adipocyte apoptotic process|downregulation of adipose cell apoptosis|down-regulation of adipocyte apoptosis|downregulation of fat cell apoptosis|negative regulation of adipocyte apoptosis|down regulation of adipose cell apoptosis http://purl.obolibrary.org/obo/GO_1904650 CHEBI:50160 biolink:ChemicalSubstance steroid acid anion Any anion formed by loss of a proton from a steroid acid. hp.json steroid acid anions http://purl.obolibrary.org/obo/CHEBI_50160 3_STAR UBERON:0000912 biolink:AnatomicalEntity mucus Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. Wikipedia:Mucus|ENVO:02000040|OpenCyc:Mx4rvVjHq5wpEbGdrcN5Y29ycA|GAID:1164|FMA:66938|CALOHA:TS-2144|UMLS:C0026727|NCIT:C13259|galen:Mucus|MESH:D009093 hp.json http://purl.obolibrary.org/obo/UBERON_0000912 UBERON:0000913 biolink:AnatomicalEntity interstitial fluid Interstitial fluid is a bodily fluid consisting of a solution which bathes and surrounds the cells of multicellular animals. It is the main component of the extracellular fluid, which also includes plasma and transcellular fluid. FMA:9673|NCIT:C120839|ENVO:02000042 hp.json intercellular fluid|tissue fluid http://purl.obolibrary.org/obo/UBERON_0000913 pheno_slim UBERON:0000915 biolink:AnatomicalEntity thoracic segment of trunk Subdivision of trunk that lies between the head and the abdomen. FMA:259209|EMAPA:35862|Wikipedia:Thorax|SCTID:302551006|MA:0000022 hp.json thorax|anterior subdivision of trunk|upper trunk|upper body http://purl.obolibrary.org/obo/UBERON_0000915 uberon_slim GO:1904659 biolink:BiologicalProcess glucose transmembrane transport The process in which glucose is transported across a membrane. hp.json glucose transport http://purl.obolibrary.org/obo/GO_1904659 UBERON:0000916 biolink:AnatomicalEntity abdomen The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. Wikipedia:Abdomen|MAT:0000298|EV:0100011|MIAA:0000298|MA:0000029|EMAPA:35102|BTO:0000020|OpenCyc:Mx4rvVjgyZwpEbGdrcN5Y29ycA|SCTID:302553009|EFO:0000968|CALOHA:TS-0001|MESH:D000005|FMA:9577|galen:Abdomen|GAID:16 hp.json abdominopelvis|abdominopelvic region|belly|adult abdomen|celiac region http://purl.obolibrary.org/obo/UBERON_0000916 pheno_slim|efo_slim|uberon_slim CHEBI:49167 biolink:ChemicalSubstance anti-asthmatic drug A drug used to treat asthma. hp.json anti-asthmatic drugs|anti-asthmatic agents|anti-asthmatic agent http://purl.obolibrary.org/obo/CHEBI_49167 3_STAR GO:0015837 biolink:BiologicalProcess amine transport The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json amine/polyamine transport http://purl.obolibrary.org/obo/GO_0015837 goslim_pir GO:0015833 biolink:BiologicalProcess peptide transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0015833 goslim_pir GO:0062237 biolink:BiologicalProcess protein localization to postsynapse Any process in which a protein is transported to, and/or maintained at the postsynapse, the part of a synapse that is part of the post-synaptic cell. hp.json http://purl.obolibrary.org/obo/GO_0062237 CHEBI:37175 biolink:ChemicalSubstance organic hydride hp.json organic hydrides http://purl.obolibrary.org/obo/CHEBI_37175 3_STAR GO:0003857 biolink:MolecularActivity 3-hydroxyacyl-CoA dehydrogenase activity Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H(+). Reactome:R-HSA-508369|Reactome:R-HSA-77342|EC:1.1.1.35|Reactome:R-HSA-77254|Reactome:R-HSA-193455|Reactome:R-HSA-390251|Reactome:R-HSA-389995|Reactome:R-HSA-193508|Reactome:R-HSA-77312|Reactome:R-HSA-77303|RHEA:22432|Reactome:R-HSA-77331|UM-BBD_enzymeID:e0664|Reactome:R-HSA-70837|Reactome:R-HSA-77283|MetaCyc:OHACYL-COA-DEHYDROG-RXN|Reactome:R-HSA-6809264|Reactome:R-HSA-77323 hp.json beta-hydroxybutyrylcoenzyme A dehydrogenase activity|3-oxoacyl-thioester reductase activity|L-3-hydroxyacyl CoA dehydrogenase activity|beta-keto-reductase activity|L-3-hydroxyacyl coenzyme A dehydrogenase activity|beta-hydroxyacyl-coenzyme A synthetase activity|beta-ketoacyl-CoA reductase|beta-hydroxyacylcoenzyme A dehydrogenase activity|beta-hydroxyacyl dehydrogenase activity http://purl.obolibrary.org/obo/GO_0003857 CHEBI:37176 biolink:ChemicalSubstance mononuclear parent hydride hp.json mononuclear hydrides|mononuclear parent hydrides|mononuclear hydride http://purl.obolibrary.org/obo/CHEBI_37176 3_STAR GO:0015849 biolink:BiologicalProcess organic acid transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0015849 goslim_pir GO:0015844 biolink:BiologicalProcess monoamine transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0015844 HP:0034371 biolink:PhenotypicFeature Reduced circulating prekallikrein concentration Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII. hp.json http://purl.obolibrary.org/obo/HP_0034371 HP:0034370 biolink:PhenotypicFeature Abnormal muscle tissue metabolite concentration hp.json http://purl.obolibrary.org/obo/HP_0034370 HP:0034373 biolink:PhenotypicFeature External tibial torsion External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) . hp.json External tibial rotation http://purl.obolibrary.org/obo/HP_0034373 HP:0034372 biolink:PhenotypicFeature Internal tibial torsion hp.json Internal tibial rotation http://purl.obolibrary.org/obo/HP_0034372 HP:0034379 biolink:PhenotypicFeature Vascular granular osmiophilic material deposition Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. hp.json http://purl.obolibrary.org/obo/HP_0034379 HP:0034378 biolink:PhenotypicFeature Urethrovesical occlusion Blockage of the flow of urine from the bladder into the urethra. hp.json http://purl.obolibrary.org/obo/HP_0034378 HP:0034375 biolink:PhenotypicFeature Spherophakia Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical. hp.json http://purl.obolibrary.org/obo/HP_0034375 HP:0034374 biolink:PhenotypicFeature Trident acetabulum Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident. hp.json Trident acetabula http://purl.obolibrary.org/obo/HP_0034374 HP:0034377 biolink:PhenotypicFeature Single atrioventricular valve regurgitation Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR. hp.json http://purl.obolibrary.org/obo/HP_0034377 HP:0034376 biolink:PhenotypicFeature Atrioventricular valve regurgitation Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve. hp.json http://purl.obolibrary.org/obo/HP_0034376 CHEBI:15801 biolink:ChemicalSubstance (R)-2-hydroxyglutarate(2-) A 2-hydroxyglutarate(2-) that has (2R)-configuration. KEGG:C01087|MetaCyc:R-2-HYDROXYGLUTARATE hp.json (R)-2-hydroxyglutarate|(R)-2-hydroxyglutarate|(2R)-2-hydroxypentanedioate http://purl.obolibrary.org/obo/CHEBI_15801 3_STAR GO:2001035 biolink:BiologicalProcess regulation of tongue muscle cell differentiation Any process that modulates the frequency, rate or extent of tongue muscle cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2001035 GO:2001036 biolink:BiologicalProcess negative regulation of tongue muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of tongue muscle cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2001036 GO:2001037 biolink:BiologicalProcess positive regulation of tongue muscle cell differentiation Any process that activates or increases the frequency, rate or extent of tongue muscle cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2001037 CHEBI:76760 biolink:ChemicalSubstance EC 3.1.* (ester hydrolase) inhibitor A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*). hp.json ester hydrolase inhibitor|EC 3.1.* (ester hydrolase) inhibitors|ester hydrolase (EC 3.1.*) inhibitors|ester hydrolase (EC 3.1.*) inhibitor|ester hydrolase inhibitors|EC 3.1.* inhibitor|EC 3.1.* inhibitors http://purl.obolibrary.org/obo/CHEBI_76760 3_STAR CHEBI:76761 biolink:ChemicalSubstance EC 3.2.* (glycosylase) inhibitor A hydrolase inhibitor that interferes with the action of any glycosylase (EC 3.2.*.*). hp.json glycosylase inhibitor|glycosylase (EC 3.2.*) inhibitors|EC 3.2.* (glycosylase) inhibitors|glycosylase (EC 3.2.*) inhibitor|glycosylase inhibitors|EC 3.2.* inhibitor|EC 3.2.* inhibitors http://purl.obolibrary.org/obo/CHEBI_76761 3_STAR PR:P04275 biolink:Protein von Willebrand factor (human) A von Willebrand factor that is encoded in the genome of human. UniProtKB:P04275 hp.json vWF (human)|hVWF|VWF|F8VWF http://purl.obolibrary.org/obo/PR_P04275 CHEBI:76764 biolink:ChemicalSubstance EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). hp.json EC 3.5.* inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitors|EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitor|EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitor|EC 3.5.* inhibitor|EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitors http://purl.obolibrary.org/obo/CHEBI_76764 3_STAR HP:0034382 biolink:PhenotypicFeature Disease remission A decrease in or disappearance of signs and symptoms typically associated with a disease course. hp.json http://purl.obolibrary.org/obo/HP_0034382 HP:0010393 biolink:PhenotypicFeature Abnormality of the middle phalanx of the 5th toe UMLS:C4023861 hp.json Abnormality of the middle bone of the little toe|Abnormality of the middle bone of the pinkie toe|Abnormality of the middle bone of the pinky toe http://purl.obolibrary.org/obo/HP_0010393 HP:0034381 biolink:PhenotypicFeature Central nervous system axonal spheroid Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements. hp.json CNS axonal spheroid http://purl.obolibrary.org/obo/HP_0034381 HP:0010392 biolink:PhenotypicFeature Abnormality of the distal phalanx of the 5th toe UMLS:C4023862 hp.json Abnormality of the outermost bone of the little toe|Abnormality of the outermost bone of the pinkie toe|Abnormality of the outermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0010392 HP:0010391 biolink:PhenotypicFeature Duplication of the phalanges of the 5th toe Partial or complete duplication of one or more phalanx of little toe. UMLS:C4020903 hp.json Duplication of the bones of the pinkie toe|Duplication of the bones of the pinky toe|Partial/complete duplication of the phalanges of the 5th toe|Duplication of the bones of the little toe|Duplication of the phalanges of the fifth toe http://purl.obolibrary.org/obo/HP_0010391 HP:0034384 biolink:PhenotypicFeature Elevated circulating insulin:C-peptide ratio Increased ratio of insulin to C-peptide in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034384 HP:0010390 biolink:PhenotypicFeature Triangular shaped phalanges of the 5th toe UMLS:C4023863 hp.json Triangular shaped little toe bone|Triangular shaped pinky toe bone|Triangular shaped pinkie toe bone http://purl.obolibrary.org/obo/HP_0010390 HP:0034383 biolink:PhenotypicFeature Elevated circulating biliverdin concentration Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034383 HP:0034380 biolink:PhenotypicFeature Juvenile type testicular granulosa cell tumor Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia. hp.json http://purl.obolibrary.org/obo/HP_0034380 HP:0034389 biolink:PhenotypicFeature Pulmonary vein varix Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. hp.json Pulmonary vein dilatation http://purl.obolibrary.org/obo/HP_0034389 HP:0010399 biolink:PhenotypicFeature Osteolytic defects of the proximal phalanx of the 2nd toe UMLS:C4023855 hp.json http://purl.obolibrary.org/obo/HP_0010399 HP:0010398 biolink:PhenotypicFeature Curved proximal phalanx of the 2nd toe A deviation from the normal straight form of the proximal phalanx of the 2nd toe. UMLS:C4023856 hp.json Curved innermost bone of 2nd toe http://purl.obolibrary.org/obo/HP_0010398 HP:0010397 biolink:PhenotypicFeature Bullet-shaped proximal phalanx of the 2nd toe An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4023857 hp.json Bullet-shaped innermost bone of 2nd toe http://purl.obolibrary.org/obo/HP_0010397 HP:0034386 biolink:PhenotypicFeature Reduced left ventricular endsystolic diameter A lower than normal left ventricular endsystolic diameter. hp.json http://purl.obolibrary.org/obo/HP_0034386 HP:0010396 biolink:PhenotypicFeature Broad proximal phalanx of the 2nd toe UMLS:C4023858 hp.json Broad innermost bone of 2nd toe http://purl.obolibrary.org/obo/HP_0010396 HP:0034385 biolink:PhenotypicFeature Abnormal left ventricular endsystolic diameter A deviation from the normal range of the left ventricular endsystolic diameter. hp.json http://purl.obolibrary.org/obo/HP_0034385 HP:0010395 biolink:PhenotypicFeature Aplasia/hypoplasia of the proximal phalanx of the 2nd toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe. UMLS:C4023859 hp.json Absent/underdeveloped innermost 2nd toe bone|Absent/small innermost 2nd toe bone http://purl.obolibrary.org/obo/HP_0010395 HP:0034388 biolink:PhenotypicFeature Hilar lymph node enlargement Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). hp.json Hilar lymphadenopathy http://purl.obolibrary.org/obo/HP_0034388 HP:0034387 biolink:PhenotypicFeature Bacterial encephalitis Encephalitis caused by bacterial infection. hp.json http://purl.obolibrary.org/obo/HP_0034387 HP:0010394 biolink:PhenotypicFeature Abnormal morphology of the proximal phalanx of the 5th toe UMLS:C4023860 hp.json Abnormality of the innermost bone of the little toe|Abnormality of the innermost bone of the pinkie toe|Abnormality of the innermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0010394 CHEBI:76773 biolink:ChemicalSubstance EC 3.1.1.* (carboxylic ester hydrolase) inhibitor An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*). hp.json EC 3.1.1.* inhibitors|EC 3.1.1.* inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitor|EC 3.1.1.* (carboxylic ester hydrolase) inhibitors|carboxylic ester hydrolase (EC 3.1.1.*) inhibitors http://purl.obolibrary.org/obo/CHEBI_76773 3_STAR HP:0034393 biolink:PhenotypicFeature Elbow extension contracture An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position. hp.json http://purl.obolibrary.org/obo/HP_0034393 HP:0009393 biolink:PhenotypicFeature Absent epiphyses of the 4th finger Absence of one or more epiphyses of the 4th finger. UMLS:C4024397 hp.json Absent end part of the ring finger bone http://purl.obolibrary.org/obo/HP_0009393 HP:0010382 biolink:PhenotypicFeature Abnormal morphology of the proximal phalanx of the 4th toe UMLS:C4023868 hp.json Abnormal innermost 4th toe bone http://purl.obolibrary.org/obo/HP_0010382 HP:0009392 biolink:PhenotypicFeature Triangular epiphyses of the 5th finger A triangular appearance of the epiphyses of the 5th finger of the hand. UMLS:C4021483 hp.json Delta-shaped epiphyses of the 5th finger|Triangular end part of the pinky finger|Triangular end part of the pinkie finger|Triangular end part of the little finger http://purl.obolibrary.org/obo/HP_0009392 HP:0034392 biolink:PhenotypicFeature Joint contracture A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. hp.json Contracture http://purl.obolibrary.org/obo/HP_0034392 HP:0010381 biolink:PhenotypicFeature Abnormality of the middle phalanx of the 4th toe UMLS:C4023869 hp.json Abnormality of middle 4th toe bone http://purl.obolibrary.org/obo/HP_0010381 HP:0009395 biolink:PhenotypicFeature Cone-shaped epiphyses of the 4th finger A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. UMLS:C4024395 hp.json Cone-shaped end part of the ring finger bones http://purl.obolibrary.org/obo/HP_0009395 HP:0034395 biolink:PhenotypicFeature Forearm pronation contracture A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between. hp.json Pronation contracture of the forearm http://purl.obolibrary.org/obo/HP_0034395 HP:0010380 biolink:PhenotypicFeature Abnormality of the distal phalanx of the 4th toe UMLS:C4023870 hp.json Abnormality of the outermost 4th toe bone http://purl.obolibrary.org/obo/HP_0010380 HP:0034394 biolink:PhenotypicFeature Forearm supination contracture A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between. hp.json Supination contracture of the forearm http://purl.obolibrary.org/obo/HP_0034394 HP:0009394 biolink:PhenotypicFeature Bracket epiphyses of the 4th finger An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024396 hp.json Bracket shaped end part of ring finger bones http://purl.obolibrary.org/obo/HP_0009394 HP:0009391 biolink:PhenotypicFeature Stippling of the epiphyses of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger. UMLS:C4024398 hp.json Speckled calcifications in end part of pinky finger bone|Speckled calcifications in end part of little finger bone|Speckled calcifications in end part of pinkie finger bone http://purl.obolibrary.org/obo/HP_0009391 HP:0034391 biolink:PhenotypicFeature Elbow contracture A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. hp.json http://purl.obolibrary.org/obo/HP_0034391 HP:0034390 biolink:PhenotypicFeature Decreased CSF glycine concentration Abnormally decreased levels of glycine in cerebrospinal fluid. hp.json http://purl.obolibrary.org/obo/HP_0034390 HP:0009390 biolink:PhenotypicFeature Small epiphyses of the 5th finger Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms. UMLS:C4024399 hp.json Small end part of pinky finger bone|Small end part of little finger bone|Small end part of pinkie finger bone http://purl.obolibrary.org/obo/HP_0009390 HP:0010389 biolink:PhenotypicFeature Symphalangism affecting the phalanges of the 5th toe UMLS:C4023864 hp.json Fused bones in the pinky toe|Fused bones in the little toe|Fused bones in the pinkie toe http://purl.obolibrary.org/obo/HP_0010389 HP:0010388 biolink:PhenotypicFeature Patchy sclerosis of 5th toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4021275 hp.json Uneven increase in bone density in little toe bone|Patchy sclerosis of the phalanges of the 5th toe|Uneven increase in bone density in pinky toe bone|Uneven increase in bone density in pinkie toe bone http://purl.obolibrary.org/obo/HP_0010388 HP:0010387 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the 5th toe UMLS:C4023865 hp.json http://purl.obolibrary.org/obo/HP_0010387 HP:0010386 biolink:PhenotypicFeature Curved 5th toe phalanx A deviation from the normal straight form of one or more phalanges of the fifth toe. UMLS:C4021276 hp.json Curved pinkie toe bones|Curved pinky toe bones|Curved little toe bones|Curved phalanges of the 5th toe http://purl.obolibrary.org/obo/HP_0010386 HP:0010385 biolink:PhenotypicFeature Bullet-shaped 5th toe phalanx An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4021277 hp.json Bullet-shaped bones of the pinkie toe|Bullet-shaped phalanges of the 5th toe|Bullet-shaped bones of the pinky toe|Bullet-shaped bones of the little toe http://purl.obolibrary.org/obo/HP_0010385 HP:0010384 biolink:PhenotypicFeature Broad phalanges of the 5th toe UMLS:C4023866 hp.json Broad bones of the little toe|Broad bones of the pinkie toe|Broad bones of the pinky toe http://purl.obolibrary.org/obo/HP_0010384 HP:0010383 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the 5th toe UMLS:C4023867 hp.json Absent/small little toe bones|Absent/small pinky toe bones|Absent/small pinkie toe bones|Absent/underdeveloped pinky toe bones http://purl.obolibrary.org/obo/HP_0010383 GO:2001053 biolink:BiologicalProcess regulation of mesenchymal cell apoptotic process Any process that modulates the frequency, rate or extent of mesenchymal cell apoptotic process. hp.json regulation of mesenchymal cell apoptosis http://purl.obolibrary.org/obo/GO_2001053 GO:2001054 biolink:BiologicalProcess negative regulation of mesenchymal cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal cell apoptotic process. hp.json negative regulation of mesenchymal cell apoptosis http://purl.obolibrary.org/obo/GO_2001054 CL:0000187 biolink:Cell muscle cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. BTO:0000888|CALOHA:TS-2032|FMA:67328|WBbt:0003675|FBbt:00005074|BTO:0000902 hp.json muscle fiber|myocyte http://purl.obolibrary.org/obo/CL_0000187 GO:2001055 biolink:BiologicalProcess positive regulation of mesenchymal cell apoptotic process Any process that activates or increases the frequency, rate or extent of mesenchymal cell apoptotic process. hp.json positive regulation of mesenchymal cell apoptosis http://purl.obolibrary.org/obo/GO_2001055 CL:0000188 biolink:Cell cell of skeletal muscle A somatic cell located in skeletal muscle. BTO:0004392|FMA:9727|CALOHA:TS-2158 hp.json skeletal muscle cell http://purl.obolibrary.org/obo/CL_0000188 HP:0009389 biolink:PhenotypicFeature Pseudoepiphyses of the 5th finger A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024400 hp.json http://purl.obolibrary.org/obo/HP_0009389 HP:0009386 biolink:PhenotypicFeature Fragmentation of the epiphyses of the 5th finger Fragmented appearance of the epiphyses of the 5th finger. UMLS:C4024403 hp.json Fragmentation of the end part of the pinkie finger bones|Fragmentation of the end part of the little finger bones|Fragmentation of the end part of the pinky finger bones http://purl.obolibrary.org/obo/HP_0009386 HP:0009385 biolink:PhenotypicFeature Enlarged epiphyses of the 5th finger Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms. UMLS:C4024404 hp.json Enlarged end part of the pinkie finger bones|Enlarged end part of the little finger bones|Enlarged end part of the pinky finger bones http://purl.obolibrary.org/obo/HP_0009385 CL:0000182 biolink:Cell hepatocyte The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated. BTO:0000575|FMA:14515|CALOHA:TS-0454 hp.json http://purl.obolibrary.org/obo/CL_0000182 CL:0000183 biolink:Cell contractile cell A cell whose primary function is to shorten. hp.json http://purl.obolibrary.org/obo/CL_0000183 HP:0009388 biolink:PhenotypicFeature Ivory epiphyses of the 5th finger Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024401 hp.json Increased bone density of end part of the pinky finger|Increased bone density of end part of the pinkie finger|Increased bone density of end part of the little finger http://purl.obolibrary.org/obo/HP_0009388 HP:0009387 biolink:PhenotypicFeature Irregular epiphyses of the 5th finger Irregular radiographic opacity of the epiphyses of the 5th finger. UMLS:C4024402 hp.json Irregular end part of the pinkie finger bones|Irregular end part of the little finger bones|Irregular end part of the pinky finger bones http://purl.obolibrary.org/obo/HP_0009387 HP:0010371 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the 4th toe UMLS:C4023875 hp.json Absent/underdeveloped bones of 4th toe|Absent/small bones of 4th toe http://purl.obolibrary.org/obo/HP_0010371 HP:0010370 biolink:PhenotypicFeature Abnormal morphology of the proximal phalanx of the 3rd toe An anomaly of the proximal phalanx of third toe. UMLS:C4023876 hp.json Abnormality of the innermost bone of 3rd toe http://purl.obolibrary.org/obo/HP_0010370 HP:0010379 biolink:PhenotypicFeature Duplication of phalanx of the 4th toe Partial or complete duplication of phalanx of fourth toe. UMLS:C4021278 hp.json Duplication of phalanx of the fourth toe|Duplication of 4th toe bone|Partial/complete duplication of the phalanges of the 4th toe http://purl.obolibrary.org/obo/HP_0010379 HP:0010378 biolink:PhenotypicFeature Triangular shaped phalanges of the 4th toe UMLS:C4023871 hp.json Triangular shaped bones of 4th toe http://purl.obolibrary.org/obo/HP_0010378 HP:0010377 biolink:PhenotypicFeature Symphalangism affecting the phalanges of the 4th toe UMLS:C4023872 hp.json Fused bones of 4th toe http://purl.obolibrary.org/obo/HP_0010377 HP:0010376 biolink:PhenotypicFeature Patchy sclerosis of 4th toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4021279 hp.json Uneven increase in bone density in 4th toe bone|Patchy sclerosis of the phalanges of the 4th toe http://purl.obolibrary.org/obo/HP_0010376 HP:0010375 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the 4th toe UMLS:C4023873 hp.json http://purl.obolibrary.org/obo/HP_0010375 HP:0010374 biolink:PhenotypicFeature Curved 4th toe phalanx A deviation from the normal straight form of one or more phalanges of the fourth toe. UMLS:C4021280 hp.json Curved bones of 4th toe|Curved phalanges of the 4th toe http://purl.obolibrary.org/obo/HP_0010374 HP:0010373 biolink:PhenotypicFeature Bullet-shaped 4th toe phalanx An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4021281 hp.json Bullet-shaped phalanges of the 4th toe|Bullet-shaped bones of the 4th toe http://purl.obolibrary.org/obo/HP_0010373 HP:0010372 biolink:PhenotypicFeature Broad phalanges of the 4th toe UMLS:C4023874 hp.json Broad bones of the 4th toe http://purl.obolibrary.org/obo/HP_0010372 CL:0000197 biolink:Cell sensory receptor cell A cell that is capable of detection of a stimulus involved in sensory perception. hp.json receptor cell http://purl.obolibrary.org/obo/CL_0000197 CL:0000192 biolink:Cell smooth muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). FMA:14072|BTO:0004576|CALOHA:TS-2159 hp.json non-striated muscle cell|smooth muscle fiber|SMCs|myocytes, smooth muscle http://purl.obolibrary.org/obo/CL_0000192 HP:0009397 biolink:PhenotypicFeature Fragmentation of the epiphyses of the 4th finger Fragmented appearance of the epiphyses of the 4th finger. UMLS:C4024393 hp.json Fragmentation of the end part of the ring finger bones http://purl.obolibrary.org/obo/HP_0009397 HP:0009396 biolink:PhenotypicFeature Enlarged epiphyses of the 4th finger Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms. UMLS:C4024394 hp.json Enlarged end part of the ring finger bones http://purl.obolibrary.org/obo/HP_0009396 HP:0009399 biolink:PhenotypicFeature Ivory epiphyses of the 4th finger Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024391 hp.json Increased bone density of end part of the ring finger bone http://purl.obolibrary.org/obo/HP_0009399 HP:0009398 biolink:PhenotypicFeature Irregular epiphyses of the 4th finger Irregular radiographic opacity of the epiphyses of the 4th finger. UMLS:C4024392 hp.json Irregular end part of the ring finger bones http://purl.obolibrary.org/obo/HP_0009398 HP:0034335 biolink:PhenotypicFeature Inheritance modifier The terms in this hierarchy can be used to specificy the context in which inheritance of a disease is typically observed. hp.json http://purl.obolibrary.org/obo/HP_0034335 HP:0034334 biolink:PhenotypicFeature allelic_requirement hp.json http://purl.obolibrary.org/obo/HP_0034334 HP:0034337 biolink:PhenotypicFeature Claw hand deformity An abormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw. hp.json http://purl.obolibrary.org/obo/HP_0034337 HP:0034336 biolink:PhenotypicFeature Splenic infarction Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion. hp.json Spleen infarct|Spleen infarction|Splenic infarct http://purl.obolibrary.org/obo/HP_0034336 HP:0034331 biolink:PhenotypicFeature McConnell sign Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle. hp.json http://purl.obolibrary.org/obo/HP_0034331 HP:0034330 biolink:PhenotypicFeature Regional right ventricular hypokinesis Decreased range of right ventricular motion in a portion of the right ventricle of the heart. hp.json http://purl.obolibrary.org/obo/HP_0034330 HP:0034333 biolink:PhenotypicFeature Increased circulating hypoxanthine concentration Elevated concentration of hypoxanthine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034333 HP:0034332 biolink:PhenotypicFeature Cognitive regression Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones. hp.json http://purl.obolibrary.org/obo/HP_0034332 CL:0000163 biolink:Cell endocrine cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. FMA:83809 hp.json endocrinocyte http://purl.obolibrary.org/obo/CL_0000163 CL:0000164 biolink:Cell enteroendocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. FMA:62930|BTO:0003865 hp.json http://purl.obolibrary.org/obo/CL_0000164 CL:0000165 biolink:Cell neuroendocrine cell An endocrine cell that has the specialized function to produce and secrete hormones in response to neuronal signals. BTO:0002691|FMA:83810 hp.json neurosecretory cell http://purl.obolibrary.org/obo/CL_0000165 CL:0000166 biolink:Cell chromaffin cell A cell that stores epinephrine secretory vesicles. During times of stress, the nervous system signals the vesicles to secrete their hormonal content. Their name derives from their ability to stain a brownish color with chromic salts. Characteristically, they are located in the adrenal medulla and paraganglia of the sympathetic nervous system. FMA:69263|BTO:0000259 hp.json phaeochromocyte http://purl.obolibrary.org/obo/CL_0000166 CL:0000167 biolink:Cell peptide hormone secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000167 HP:0034339 biolink:PhenotypicFeature Pseudoautosomal inheritance A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes. hp.json Pseudoautosomal region inheritance http://purl.obolibrary.org/obo/HP_0034339 UBERON:0022292 biolink:AnatomicalEntity splenic arteriole NCIT:C33596 hp.json http://purl.obolibrary.org/obo/UBERON_0022292 CL:0000168 biolink:Cell insulin secreting cell BTO:0000783 hp.json http://purl.obolibrary.org/obo/CL_0000168 HP:0034338 biolink:PhenotypicFeature Imprinted hp.json http://purl.obolibrary.org/obo/HP_0034338 CL:0000169 biolink:Cell type B pancreatic cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. EV:0200009|ncithesaurus:Beta_Cell|FMA:70586|BTO:0000783|MA:0002419 hp.json pancreatic beta cell|pancreatic B-cell|beta cell islet|insulin-secreting cell|pancreatic B cell|beta cell of pancreatic islet|type B enteroendocrine cell|pancreatic islet core|B-cell of pancreatic islet|beta cell http://purl.obolibrary.org/obo/CL_0000169 UBERON:0022293 biolink:AnatomicalEntity reproductive gland secretion A portion of organism substance that is secreted by a reproductive gland. hp.json reproductive system fluid/secretion|genital fluid|genital secretion|reproductive system fluid|reproductive system secretion http://purl.obolibrary.org/obo/UBERON_0022293 UBERON:0022296 biolink:AnatomicalEntity inferior palpebral branch of infra-orbital nerve A nerve that innervates a lower eyelid and is a branch of the infra-orbital branch of the maxillary nerve. FMA:52983 hp.json rami palpebrales inferiores nervi infraorbitalis http://purl.obolibrary.org/obo/UBERON_0022296 UBERON:0022298 biolink:AnatomicalEntity lower eyelid nerve A nerve that innervates a lower eyelid. hp.json http://purl.obolibrary.org/obo/UBERON_0022298 UBERON:0022297 biolink:AnatomicalEntity palpebral branch of infra-orbital nerve A nerve that innervates an eyelid and is a branch of the infra-orbital branch of the maxillary nerve. hp.json palpebral branch of maxillary nerve http://purl.obolibrary.org/obo/UBERON_0022297 UBERON:0022299 biolink:AnatomicalEntity upper eyelid nerve A nerve that innervates an upper eyelid. hp.json http://purl.obolibrary.org/obo/UBERON_0022299 CL:0000160 biolink:Cell goblet cell A cell of the epithelial lining that produce and secrete mucins. BTO:0001540|FMA:13148 hp.json chalice cell http://purl.obolibrary.org/obo/CL_0000160 CL:0000161 biolink:Cell acid secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000161 HP:0034340 biolink:PhenotypicFeature Pseudoautosomal dominant inheritance A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype. hp.json monoallelic_PAR http://purl.obolibrary.org/obo/HP_0034340 HP:0034346 biolink:PhenotypicFeature Nesidioblastosis An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed. hp.json http://purl.obolibrary.org/obo/HP_0034346 HP:0034345 biolink:PhenotypicFeature Mendelian inheritance A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. hp.json http://purl.obolibrary.org/obo/HP_0034345 HP:0034348 biolink:PhenotypicFeature Subpulmonary stenosis A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve. hp.json Subvalvar pulmonary stenosis|Subvalvar pulmonic stenosis|Infundibular pulmonary stenosis|Subvalvular pulmonary stenosis|Subvalvular pulmonic stenosis|Infundibular pulmonic stenosis http://purl.obolibrary.org/obo/HP_0034348 HP:0034347 biolink:PhenotypicFeature Greater auricular nerve thickening Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region. hp.json Palpable great auricular nerve http://purl.obolibrary.org/obo/HP_0034347 HP:0034342 biolink:PhenotypicFeature Trapezius muscle aplasia A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax). hp.json http://purl.obolibrary.org/obo/HP_0034342 HP:0034341 biolink:PhenotypicFeature Pseudoautosomal recessive inheritance A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype. hp.json biallelic_PAR http://purl.obolibrary.org/obo/HP_0034341 HP:0034344 biolink:PhenotypicFeature Female-limited expression Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex. hp.json http://purl.obolibrary.org/obo/HP_0034344 HP:0034343 biolink:PhenotypicFeature Requires heterozygosity A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females. hp.json http://purl.obolibrary.org/obo/HP_0034343 CL:0000174 biolink:Cell steroid hormone secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000174 CL:0000177 biolink:Cell testosterone secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000177 CL:0000178 biolink:Cell Leydig cell A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis. BTO:0000755|CALOHA:TS-1150|FMA:72297|EMAPA:29655 hp.json interstitial cell|interstitial cell of Leydig http://purl.obolibrary.org/obo/CL_0000178 HP:0034349 biolink:PhenotypicFeature Supravalvar pulmonary stenosis A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve. hp.json Supravalvar pulmonnic stenosis|Supravalvular pulmonary stenosis|Supravalvular pulmonic stenosis http://purl.obolibrary.org/obo/HP_0034349 CL:0000170 biolink:Cell glucagon secreting cell A cell that secretes glucagon. FMA:84045 hp.json glucagon-secreting cell http://purl.obolibrary.org/obo/CL_0000170 CL:0000172 biolink:Cell somatostatin secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000172 HP:0034351 biolink:PhenotypicFeature Neuromyotonia Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness. hp.json Peripheral nerve hyperexcitability http://purl.obolibrary.org/obo/HP_0034351 HP:0034350 biolink:PhenotypicFeature Valvular pulmonary stenosis A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve. hp.json http://purl.obolibrary.org/obo/HP_0034350 GO:2001017 biolink:BiologicalProcess regulation of retrograde axon cargo transport Any process that modulates the frequency, rate or extent of retrograde axon cargo transport. hp.json regulation of retrograde axonal transport http://purl.obolibrary.org/obo/GO_2001017 HP:0034357 biolink:PhenotypicFeature Impaired renal tubular reabsorption of glucose Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. hp.json http://purl.obolibrary.org/obo/HP_0034357 CL:0000149 biolink:Cell visual pigment cell hp.json pigment cell http://purl.obolibrary.org/obo/CL_0000149 HP:0034356 biolink:PhenotypicFeature Impaired renal tubular reabsorption of low molecular weight protein Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. hp.json Increased low molecular weight protein excretion http://purl.obolibrary.org/obo/HP_0034356 GO:2001018 biolink:BiologicalProcess negative regulation of retrograde axon cargo transport Any process that stops, prevents or reduces the frequency, rate or extent of retrograde axon cargo transport. hp.json negative regulation of retrograde axonal transport http://purl.obolibrary.org/obo/GO_2001018 GO:2001019 biolink:BiologicalProcess positive regulation of retrograde axon cargo transport Any process that activates or increases the frequency, rate or extent of retrograde axon cargo transport. hp.json positive regulation of retrograde axonal transport http://purl.obolibrary.org/obo/GO_2001019 HP:0034359 biolink:PhenotypicFeature Impaired renal tubular reabsorption of phosphate Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. hp.json http://purl.obolibrary.org/obo/HP_0034359 HP:0034358 biolink:PhenotypicFeature Impaired renal tubular reabsorption of sodium Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. hp.json http://purl.obolibrary.org/obo/HP_0034358 HP:0034353 biolink:PhenotypicFeature Appendicular spasticity A type of spasticity that affects one or more limbs (arms or legs). hp.json http://purl.obolibrary.org/obo/HP_0034353 HP:0034352 biolink:PhenotypicFeature Bile duct polyp An elevated growth from the the mucosa of the bile duct. hp.json http://purl.obolibrary.org/obo/HP_0034352 HP:0034355 biolink:PhenotypicFeature White cerebellum sign On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis. hp.json http://purl.obolibrary.org/obo/HP_0034355 HP:0034354 biolink:PhenotypicFeature Trichoschisis Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft. hp.json http://purl.obolibrary.org/obo/HP_0034354 GO:2001012 biolink:BiologicalProcess mesenchymal cell differentiation involved in renal system development The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of the renal system as it progresses from its formation to the mature state. hp.json mesenchymal cell differentiation involved in urinary system development|mesenchymal cell differentiation involved in urinary tract development http://purl.obolibrary.org/obo/GO_2001012 CL:0000145 biolink:Cell professional antigen presenting cell A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. hp.json APC http://purl.obolibrary.org/obo/CL_0000145 GO:2001014 biolink:BiologicalProcess regulation of skeletal muscle cell differentiation Any process that modulates the frequency, rate or extent of skeletal muscle cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2001014 CL:0000146 biolink:Cell simple columnar epithelial cell hp.json http://purl.obolibrary.org/obo/CL_0000146 GO:2001015 biolink:BiologicalProcess negative regulation of skeletal muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of skeletal muscle cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2001015 CL:0000147 biolink:Cell pigment cell A pigment cell is a cell that contains pigment granules. VHOG:0001678 hp.json chromatophore|chromatocyte http://purl.obolibrary.org/obo/CL_0000147 GO:2001016 biolink:BiologicalProcess positive regulation of skeletal muscle cell differentiation Any process that activates or increases the frequency, rate or extent of skeletal muscle cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2001016 CL:0000148 biolink:Cell melanocyte A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance. BTO:0000847|FMA:70545|VHOG:0001679|CALOHA:TS-0613 hp.json melanophore http://purl.obolibrary.org/obo/CL_0000148 HP:0034360 biolink:PhenotypicFeature Action myoclonus A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli. hp.json http://purl.obolibrary.org/obo/HP_0034360 HP:0034362 biolink:PhenotypicFeature Dull foveal reflex Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. hp.json Decreased foveal light reflex|Poor foveal light reflex|Muted foveal light reflex http://purl.obolibrary.org/obo/HP_0034362 HP:0034361 biolink:PhenotypicFeature Redundant umbilical skin Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen. hp.json http://purl.obolibrary.org/obo/HP_0034361 HP:0034368 biolink:PhenotypicFeature Urolithiasis Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra. hp.json http://purl.obolibrary.org/obo/HP_0034368 GO:2001028 biolink:BiologicalProcess positive regulation of endothelial cell chemotaxis Any process that activates or increases the frequency, rate or extent of endothelial cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_2001028 HP:0034367 biolink:PhenotypicFeature Decreased beta-mannosidase activity Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides. hp.json http://purl.obolibrary.org/obo/HP_0034367 HP:0034369 biolink:PhenotypicFeature Decreased level of coenzyme Q10 in skeletal muscle Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue. hp.json http://purl.obolibrary.org/obo/HP_0034369 HP:0034364 biolink:PhenotypicFeature Fibrofatty replacement of right ventricular myocardium Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue. hp.json http://purl.obolibrary.org/obo/HP_0034364 HP:0034363 biolink:PhenotypicFeature Corneal pterygium Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea. hp.json Wing-shaped conjunctiva|Surfer's eye http://purl.obolibrary.org/obo/HP_0034363 HP:0034366 biolink:PhenotypicFeature Fracture blister Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn. hp.json http://purl.obolibrary.org/obo/HP_0034366 HP:0034365 biolink:PhenotypicFeature Elevated circulating alpha-aminoadipic semialdehyde concentration Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation. hp.json Elevated circulating piperideine-6-carboxylic acid concentration http://purl.obolibrary.org/obo/HP_0034365 CL:0000152 biolink:Cell exocrine cell A cell of an exocrine gland; i.e. a gland that discharges its secretion via a duct. FMA:16014 hp.json http://purl.obolibrary.org/obo/CL_0000152 GO:2001020 biolink:BiologicalProcess regulation of response to DNA damage stimulus Any process that modulates the frequency, rate or extent of response to DNA damage stimulus. hp.json regulation of cellular DNA damage response|regulation of DNA damage response|regulation of response to genotoxic stress|regulation of cellular response to DNA damage stimulus http://purl.obolibrary.org/obo/GO_2001020 GO:2001021 biolink:BiologicalProcess negative regulation of response to DNA damage stimulus Any process that stops, prevents or reduces the frequency, rate or extent of response to DNA damage stimulus. hp.json negative regulation of cellular response to DNA damage stimulus|negative regulation of cellular DNA damage response|negative regulation of response to genotoxic stress|negative regulation of DNA damage response http://purl.obolibrary.org/obo/GO_2001021 CL:0000153 biolink:Cell glycosaminoglycan secreting cell A cell that secretes glycosaminoglycans. hp.json hyaluronic acid secreting cell|GAG secreting cell http://purl.obolibrary.org/obo/CL_0000153 CL:0000154 biolink:Cell protein secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000154 GO:2001022 biolink:BiologicalProcess positive regulation of response to DNA damage stimulus Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus. hp.json positive regulation of cellular response to DNA damage stimulus|positive regulation of DNA damage response|positive regulation of cellular DNA damage response|positive regulation of response to genotoxic stress http://purl.obolibrary.org/obo/GO_2001022 CL:0000157 biolink:Cell surfactant secreting cell A cell that specializes in secretion of surfactant in the alveoli of the lung. hp.json http://purl.obolibrary.org/obo/CL_0000157 GO:2001026 biolink:BiologicalProcess regulation of endothelial cell chemotaxis Any process that modulates the frequency, rate or extent of endothelial cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_2001026 CL:0000158 biolink:Cell club cell Epithelial progenitor cell of the lung. Club cells are dome-shaped with short microvilli but no cilia. They function to protect the bronchiolar epithelium. Club cells also multiply and differentiate into ciliated cells to regenerate the bronchiolar epithelium. BTO:0004811|FMA:14119 hp.json bronchiolar non-ciliated cell|Clara cell|club cell of bronchiole http://purl.obolibrary.org/obo/CL_0000158 CL:0000159 biolink:Cell seromucus secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000159 GO:2001027 biolink:BiologicalProcess negative regulation of endothelial cell chemotaxis Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_2001027 CL:0000150 biolink:Cell glandular epithelial cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. CALOHA:TS-2085|FMA:86494 hp.json http://purl.obolibrary.org/obo/CL_0000150 CL:0000151 biolink:Cell secretory cell A cell that specializes in controlled release of one or more substances. BTO:0003659|FMA:86916 hp.json http://purl.obolibrary.org/obo/CL_0000151 HP:0009571 biolink:PhenotypicFeature Curved middle phalanx of the 2nd finger Curved appearance of the middle phalanx of the 2nd finger. UMLS:C4024286 hp.json Curved middle bone of the index finger http://purl.obolibrary.org/obo/HP_0009571 HP:0009570 biolink:PhenotypicFeature Bullet-shaped middle phalanx of the 2nd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected. UMLS:C4024287 hp.json Bullet-shaped middle bone of index finger http://purl.obolibrary.org/obo/HP_0009570 UBERON:0010380 biolink:AnatomicalEntity enteric nerve The neurons that innervate the esophagus, stomach, small and large bowel. MA:0001145|EMAPA:37479 hp.json http://purl.obolibrary.org/obo/UBERON_0010380 pheno_slim UBERON:0010384 biolink:AnatomicalEntity lumen of laryngopharynx An anatomical space that is enclosed by a hypopharynx. FMA:55096 hp.json laryngopharynx lumen http://purl.obolibrary.org/obo/UBERON_0010384 HP:0010566 biolink:PhenotypicFeature Hamartoma A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. SNOMEDCT_US:51398009|MSH:D006222|UMLS:C0018552|SNOMEDCT_US:400006008 hp.json http://purl.obolibrary.org/obo/HP_0010566 HP:0010565 biolink:PhenotypicFeature Aplasia/Hypoplasia of the Epiglottis This term applies if the Epiglottis is absent or hypoplastic. UMLS:C4023790 hp.json http://purl.obolibrary.org/obo/HP_0010565 HP:0010564 biolink:PhenotypicFeature Bifid epiglottis A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. UMLS:C0339864|SNOMEDCT_US:232412004 hp.json http://purl.obolibrary.org/obo/HP_0010564 HP:0010562 biolink:PhenotypicFeature Keloids SNOMEDCT_US:58405006|MEDDRA:10023330|SNOMEDCT_US:33659008|UMLS:C0022548|MSH:D007627 hp.json http://purl.obolibrary.org/obo/HP_0010562 hposlim_core UBERON:0010388 biolink:AnatomicalEntity proximal segment of rib The segment of the rib that connects to a vertebra[MP]. a small part of the rib composed of the head, neck, tuberculum and a short proximal part of the body[PMID]. MA:0001400|EMAPA:37495|MA:0001414 hp.json vertebral part of rib|proximal rib|proximal rib segment|proximal part of rib|costal part of rib http://purl.obolibrary.org/obo/UBERON_0010388 pheno_slim HP:0010561 biolink:PhenotypicFeature Undulate ribs An abnormally wavy surface or edge of the ribs. UMLS:C1969185 hp.json Wavy ribs http://purl.obolibrary.org/obo/HP_0010561 HP:0010560 biolink:PhenotypicFeature Undulate clavicles An abnormally wavy surface or edge of the clavicles. UMLS:C4021253 hp.json Wavy clavicles|Wavy collarbone http://purl.obolibrary.org/obo/HP_0010560 UBERON:0010379 biolink:AnatomicalEntity superior tarsal muscle The superior tarsal muscle is a smooth muscle adjoining the levator palpebrae superioris muscle that helps to raise the upper eyelid. FMA:49058 hp.json the superior tarsal muscle|mueller muscle|Mueller's muscle|Muller's muscle|musculus tarsalis superior|Müller's muscle http://purl.obolibrary.org/obo/UBERON_0010379 HP:0010569 biolink:PhenotypicFeature Elevated 7-dehydrocholesterol Elevated 7-dehydrocholesterol levels. UMLS:C1849185 hp.json Elevated levels of cholesta-5,7-dien-3beta-ol http://purl.obolibrary.org/obo/HP_0010569 HP:0009569 biolink:PhenotypicFeature Broad middle phalanx of the 2nd finger Increased width of the middle phalanx of the second finger. UMLS:C4024288 hp.json Broad middle bone of the index finger http://purl.obolibrary.org/obo/HP_0009569 HP:0010568 biolink:PhenotypicFeature Hamartoma of the eye A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye. UMLS:C4023788 hp.json http://purl.obolibrary.org/obo/HP_0010568 HP:0010567 biolink:PhenotypicFeature Y-shaped metatarsals Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly. UMLS:C4023789 hp.json Y-shaped long bone of foot http://purl.obolibrary.org/obo/HP_0010567 HP:0009566 biolink:PhenotypicFeature Short distal phalanx of the 2nd finger Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. UMLS:C4021438 hp.json Short distal phalanx of the second finger|Short terminal index finger phalanx|Hypoplastic/small distal phalanx of the 2nd finger|Hypoplastic terminal index finger phalanx|Short outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009566 HP:0009565 biolink:PhenotypicFeature Aplasia of the distal phalanx of the 2nd finger UMLS:C4021439 hp.json Absent outermost index finger bone|Absent terminal index finger phalanx http://purl.obolibrary.org/obo/HP_0009565 CHEBI:64709 biolink:ChemicalSubstance organic acid Any organic molecular entity that is acidic and contains carbon in covalent linkage. hp.json organic acids http://purl.obolibrary.org/obo/CHEBI_64709 3_STAR HP:0009568 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle phalanx of the 2nd finger UMLS:C1862144 hp.json Absent/underdeveloped middle index finger bone|Hypoplastic/aplastic middle phalanx of index finger|Absent/hypoplastic middle phalanx of 2nd finger|Absent/small middle index finger bone http://purl.obolibrary.org/obo/HP_0009568 CHEBI:64708 biolink:ChemicalSubstance one-carbon compound An organic molecular entity containing a single carbon atom (C1). hp.json one-carbon compounds http://purl.obolibrary.org/obo/CHEBI_64708 3_STAR HP:0009562 biolink:PhenotypicFeature Patchy sclerosis of the distal phalanx of the 2nd finger Uneven (irregular) increase in bone density of the distal phalanx of the second finger. UMLS:C4024290 hp.json Uneven increase in bone density in the outermost bone of the 2nd finger http://purl.obolibrary.org/obo/HP_0009562 HP:0009561 biolink:PhenotypicFeature Osteolytic defects of the distal phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger. UMLS:C4021441 hp.json Osteolytic defects of the outermost bone of the 2nd finger|Acro-osteolysis of terminal index finger phalanx|Acro-osteolysis of index finger http://purl.obolibrary.org/obo/HP_0009561 HP:0009564 biolink:PhenotypicFeature Triangular shaped distal phalanx of the 2nd finger Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024289 hp.json Triangular shaped outermost bone of the 2nd finger http://purl.obolibrary.org/obo/HP_0009564 HP:0009563 biolink:PhenotypicFeature Distal/middle symphalangism of 2nd finger Fusion of the terminal/distal and middle phalanges of the 2nd finger. UMLS:C4021440 hp.json Symphalangism of the distal and middle phalanges of the 2nd finger|Fused outermost and middle index finger bones http://purl.obolibrary.org/obo/HP_0009563 HP:0009580 biolink:PhenotypicFeature Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger UMLS:C4024281 hp.json Absent/underdeveloped innermost index finger bone|Absent/small innermost index finger bone http://purl.obolibrary.org/obo/HP_0009580 HP:0009582 biolink:PhenotypicFeature Bullet-shaped proximal phalanx of the 2nd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected. UMLS:C4024280 hp.json Bullet-shaped innermost bone of index finger http://purl.obolibrary.org/obo/HP_0009582 HP:0009581 biolink:PhenotypicFeature Broad proximal phalanx of the 2nd finger Increased width of the proximal phalanx of the 2nd finger. UMLS:C4021434 hp.json Wide/broad proximal index finger phalanx|Wide innermost bone of index finger http://purl.obolibrary.org/obo/HP_0009581 UBERON:0010370 biolink:AnatomicalEntity tibial vein One of the veins of the lower leg; empty into the popliteal vein. NCIT:C33787|MA:0002243|EMAPA:37199|UMLS:C0447138 hp.json vena tibialis http://purl.obolibrary.org/obo/UBERON_0010370 CHEBI:25107 biolink:ChemicalSubstance magnesium atom Gmelin:16207|WebElements:Mg|DrugBank:DB01378|CAS:7439-95-4|KEGG:C00305 hp.json 12Mg|Mg|Mg|magnesium|Magnesium|magnesium|magnesio http://purl.obolibrary.org/obo/CHEBI_25107 3_STAR HP:0010554 biolink:PhenotypicFeature Cutaneous finger syndactyly A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. UMLS:C4021254 hp.json Webbed skin of fingers|Cutaneous syndactyly of fingers|Cutaneous syndactyly of hands|Webbed fingers http://purl.obolibrary.org/obo/HP_0010554 hposlim_core UBERON:0010371 biolink:AnatomicalEntity ecto-epithelium Epithelium composed of cells that develops from the ectoderm[FMA,modified]. FMA:69064 hp.json ectoderm-derived epithelium http://purl.obolibrary.org/obo/UBERON_0010371 HP:0010553 biolink:PhenotypicFeature Oculogyric crisis An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. UMLS:C0085637|SNOMEDCT_US:5332004 hp.json http://purl.obolibrary.org/obo/HP_0010553 HP:0010551 biolink:PhenotypicFeature Paraplegia/paraparesis Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. UMLS:C4023792 hp.json http://purl.obolibrary.org/obo/HP_0010551 UBERON:0010377 biolink:AnatomicalEntity mesenchyme from somatopleure Mesenchyme that develops_from a somatopleure. EHDAA2:0001120 hp.json http://purl.obolibrary.org/obo/UBERON_0010377 UBERON:0010378 biolink:AnatomicalEntity mesenchyme from splanchnopleure Mesenchyme that develops_from a splanchnopleure. EHDAA2:0001122 hp.json http://purl.obolibrary.org/obo/UBERON_0010378 HP:0010550 biolink:PhenotypicFeature Paraplegia Severe or complete weakness of both lower extremities with sparing of the upper extremities. MSH:D010264|UMLS:C0030486|SNOMEDCT_US:60389000 hp.json Leg paralysis http://purl.obolibrary.org/obo/HP_0010550 UBERON:0010375 biolink:AnatomicalEntity pancreas dorsal primordium FMA:79793|EHDAA2:0001384 hp.json dorsal pancreas http://purl.obolibrary.org/obo/UBERON_0010375 UBERON:0010376 biolink:AnatomicalEntity pancreas ventral primordium FMA:79794|EHDAA2:0001387 hp.json ventral pancreas http://purl.obolibrary.org/obo/UBERON_0010376 CHEBI:39745 biolink:ChemicalSubstance dihydrogenphosphate A monovalent inorganic anion that consists of phosphoric acid in which one of the three OH groups has been deprotonated. Gmelin:1999|DrugBank:DB02831|PDBeChem:2HP hp.json dihydrogenphosphate|[PO2(OH)2](-)|H2PO4(-)|dihydrogentetraoxophosphate(V)|dihydroxidodioxidophosphate(1-)|DIHYDROGENPHOSPHATE ION|dihydrogen(tetraoxidophosphate)(1-)|dihydrogentetraoxophosphate(1-) http://purl.obolibrary.org/obo/CHEBI_39745 3_STAR CHEBI:15756 biolink:ChemicalSubstance hexadecanoic acid A straight-chain, sixteen-carbon, saturated long-chain fatty acid. Wikipedia:Palmitic_acid|KNApSAcK:C00001233|PMID:1589452|PMID:16884313|PPDB:1336|PMID:20001317|PMID:28600633|Gmelin:190200|CAS:57-10-3|PMID:16509590|PMID:17502136|PMID:25584012|PMID:17439666|Beilstein:607489|PDBeChem:PLM|Reaxys:607489|KNApSAcK:C00030479|CAS:57-10-3|CAS:57-10-3|PMID:12492626|KEGG:D05341|PMID:15357969|HMDB:HMDB0000220|DrugBank:DB03796|PMID:22735334|KEGG:C00249|LIPID_MAPS_instance:LMFA01010001|MetaCyc:PALMITATE hp.json 1-Pentadecanecarboxylic acid|C16:0|Palmitic acid|Palmitate|C16 fatty acid|Hexadecylic acid|PALMITIC ACID|n-hexadecoic acid|C16|Hexadecylic acid|n-hexadecanoic acid|palmitic acid|Palmitinic acid|1-hexyldecanoic acid|16:00|cetylic acid|Hexaectylic acid|CH3-[CH2]14-COOH|Hexadecanoate|Palmitinsaeure|Pentadecanecarboxylic acid|FA 16:0|hexadecoic acid|hexadecanoic acid http://purl.obolibrary.org/obo/CHEBI_15756 3_STAR UBERON:0010368 biolink:AnatomicalEntity pulmonary lobule The smallest anatomical unit of the lung, measuring 0.50 to 2.00 cm in diameter. Each lobule is composed of 4-8 terminal bronchioles and their distal alveolar ducts and sacs. The lobules are separated by fibrous interlobular septa. NCIT:C33428|FMA:75739 hp.json lobulus pulmonis http://purl.obolibrary.org/obo/UBERON_0010368 human_reference_atlas HP:0010559 biolink:PhenotypicFeature Vertical clivus An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). UMLS:C1844702 hp.json http://purl.obolibrary.org/obo/HP_0010559 HP:0010558 biolink:PhenotypicFeature Abnormality of the clivus An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. UMLS:C4023791 hp.json http://purl.obolibrary.org/obo/HP_0010558 HP:0010557 biolink:PhenotypicFeature Overlapping fingers A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. UMLS:C1446712 hp.json http://purl.obolibrary.org/obo/HP_0010557 hposlim_core HP:0009577 biolink:PhenotypicFeature Short middle phalanx of the 2nd finger Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. UMLS:C4021435 hp.json Brachymesophalangy II (finger)|Hypoplastic/small middle phalanx of the 2nd finger|Hypoplastic middle index finger phalanx|Short middle bone of index finger http://purl.obolibrary.org/obo/HP_0009577 HP:0009576 biolink:PhenotypicFeature Absent middle phalanx of 2nd finger Absence of the middle phalanx of the index (2nd) finger. UMLS:C4021436 hp.json Aplasia of the middle phalanx of the 2nd finger|Absent middle phalanx of index finger|Absent middle bone of index finger http://purl.obolibrary.org/obo/HP_0009576 HP:0009579 biolink:PhenotypicFeature Proximal/middle symphalangism of the 2nd finger Fusion of the proximal and middle phalanges of the 2nd finger. UMLS:C4024282 hp.json Fused innermost and middle index finger bones http://purl.obolibrary.org/obo/HP_0009579 HP:0009573 biolink:PhenotypicFeature Patchy sclerosis of the middle phalanx of the 2nd finger Uneven (irregular) increase in bone density of the middle phalanx of the second finger. UMLS:C4024285 hp.json Uneven increase in bone density in the middle bone of the index finger http://purl.obolibrary.org/obo/HP_0009573 HP:0009572 biolink:PhenotypicFeature Osteolytic defects of the middle phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger. UMLS:C4021437 hp.json Lytic defects of middle index finger phalanx http://purl.obolibrary.org/obo/HP_0009572 HP:0009575 biolink:PhenotypicFeature Triangular shaped middle phalanx of the 2nd finger Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024283 hp.json Triangular shaped middle bone of index finger http://purl.obolibrary.org/obo/HP_0009575 HP:0009574 biolink:PhenotypicFeature Symphalangism of middle phalanx of 2nd finger Fusion of the middle phalanx of the 2nd finger with another bone. UMLS:C4024284 hp.json Fused middle bone of index finger http://purl.obolibrary.org/obo/HP_0009574 HP:0010544 biolink:PhenotypicFeature Vertical nystagmus Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. UMLS:C0271386|SNOMEDCT_US:111533001|MSH:D009759 hp.json http://purl.obolibrary.org/obo/HP_0010544 hposlim_core UBERON:0010362 biolink:AnatomicalEntity endoskeleton Skeletal subdivision that undergoes indirect development and includes elements that develop as a replacement or substitution of other elements or tissues. XAO:0004026|VSAO:0000037|Wikipedia:Endoskeleton hp.json replacement skeleton http://purl.obolibrary.org/obo/UBERON_0010362 UBERON:0010363 biolink:AnatomicalEntity endochondral element A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. XAO:0004017|ZFA:0005620|VSAO:0000139 hp.json endochondral replacement element http://purl.obolibrary.org/obo/UBERON_0010363 HP:0010543 biolink:PhenotypicFeature Opsoclonus Bursts of large-amplitude multidirectional saccades without intersaccadic interval SNOMEDCT_US:194177006|MSH:D015835|UMLS:C0242567 hp.json http://purl.obolibrary.org/obo/HP_0010543 HP:0010542 biolink:PhenotypicFeature Vestibular nystagmus Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. UMLS:C0155379|SNOMEDCT_US:46888001 hp.json http://purl.obolibrary.org/obo/HP_0010542 UBERON:0010360 biolink:AnatomicalEntity pharyngeal arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a entire pharyngeal arch associated mesenchyme. hp.json arch mesenchyme from head mesenchyme|branchial arch mesenchyme from head mesenchyme|head mesenchyme derived arch mesenchyme http://purl.obolibrary.org/obo/UBERON_0010360 HP:0010541 biolink:PhenotypicFeature Cutis gyrata of scalp The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. UMLS:C4072877|SNOMEDCT_US:51603000|UMLS:C4280378|UMLS:C0263417 hp.json Scalp rugae|Thickened folds on top of scalp|Cutis verticis gyrata|Scalp folds|Thickening of the scalp|Furrows in thickened skin on top of scalp|Scalp furrows http://purl.obolibrary.org/obo/HP_0010541 HP:0010540 biolink:PhenotypicFeature Advanced pneumatization of cranial sinuses A degree of pneumatization that is increased compared to age-related norms. UMLS:C4023793 hp.json http://purl.obolibrary.org/obo/HP_0010540 UBERON:0010366 biolink:AnatomicalEntity conjunctival vasculature A vasculature that is part of a conjunctiva. FMA:70887 hp.json venae conjunctivales|conjunctival veins set|conjunctival veins|set of conjunctival veins http://purl.obolibrary.org/obo/UBERON_0010366 UBERON:0010367 biolink:AnatomicalEntity conjunctival vein A vein that is part of a conjunctiva. FMA:70887 hp.json conjunctival blood vessel http://purl.obolibrary.org/obo/UBERON_0010367 UBERON:0010364 biolink:AnatomicalEntity dermal skeleton Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. XAO:0004025|VSAO:0000035 hp.json dermal skeletal system|desmoskeleton|exoskeleton|dermoskeleton http://purl.obolibrary.org/obo/UBERON_0010364 UBERON:0010365 biolink:AnatomicalEntity odontoid tissue Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. EMAPA:35872|UMLS:C1519551|VSAO:0000063|ZFA:0005623|XAO:0004046|MA:0002540|NCIT:C33794|FMA:63001 hp.json substance of tooth|portion of substance of tooth|dental tissue|tooth hard tissue|tooth tissue|tooth substance|odontogenic tissue http://purl.obolibrary.org/obo/UBERON_0010365 uberon_slim UBERON:0010359 biolink:AnatomicalEntity pharyngeal arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a entire pharyngeal arch associated mesenchyme. hp.json neural crest derived arch mesenchyme|branchial arch mesenchyme from neural crest|arch mesenchyme from neural crest http://purl.obolibrary.org/obo/UBERON_0010359 UBERON:0010358 biolink:AnatomicalEntity arch of centrum of vertebra An arch-shaped structure of the vertebra that extends dorsally (neural arch) or ventrally (hemal arch) from the vertebral centrum. FMA:11946|EMAPA:36614 hp.json vertebra arch|vertebral arch|arcus vertebrae (vertebralis)|arch of vertebra http://purl.obolibrary.org/obo/UBERON_0010358 pheno_slim HP:0010549 biolink:PhenotypicFeature Weakness due to upper motor neuron dysfunction Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. UMLS:C4021255 hp.json Paralysis due to lesions of the principle motor tracts http://purl.obolibrary.org/obo/HP_0010549 HP:0010548 biolink:PhenotypicFeature Percussion myotonia A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). UMLS:C0751359|MSH:D009222 hp.json Transient swelling of muscle induced by percussion http://purl.obolibrary.org/obo/HP_0010548 HP:0009548 biolink:PhenotypicFeature Bullet-shaped phalanges of the 2nd finger A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4024300 hp.json Bullet-shaped index finger bones http://purl.obolibrary.org/obo/HP_0009548 HP:0009547 biolink:PhenotypicFeature Broad phalanges of the 2nd finger UMLS:C4021444 hp.json Wide/broad index finger phalanges|Wide index finger bones http://purl.obolibrary.org/obo/HP_0009547 HP:0010547 biolink:PhenotypicFeature Muscle flaccidity A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. SNOMEDCT_US:397488002|SNOMEDCT_US:186611004|MSH:D009123|UMLS:C0026825 hp.json http://purl.obolibrary.org/obo/HP_0010547 HP:0010546 biolink:PhenotypicFeature Muscle fibrillation Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. UMLS:C0231531|SNOMEDCT_US:41405005 hp.json Twitching http://purl.obolibrary.org/obo/HP_0010546 HP:0010545 biolink:PhenotypicFeature Downbeat nystagmus Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. UMLS:C0585544|SNOMEDCT_US:307676006 hp.json http://purl.obolibrary.org/obo/HP_0010545 HP:0009549 biolink:PhenotypicFeature Curved phalanges of the 2nd finger UMLS:C4024299 hp.json Curved index finger bones http://purl.obolibrary.org/obo/HP_0009549 HP:0009544 biolink:PhenotypicFeature Abnormality of the proximal phalanx of the 2nd finger UMLS:C4021447 hp.json Abnormality of the proximal 2nd finger phalanx|Abnormal innermost index finger bone http://purl.obolibrary.org/obo/HP_0009544 HP:0009543 biolink:PhenotypicFeature Abnormality of the middle phalanx of the 2nd finger UMLS:C4021448 hp.json Abnormal middle index finger bone|Abnormality of middle 2nd finger phalanx http://purl.obolibrary.org/obo/HP_0009543 HP:0009546 biolink:PhenotypicFeature Triangular shaped phalanges of the 2nd finger Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4021445 hp.json Triangular index finger phalanges|Triangular bones of index finger http://purl.obolibrary.org/obo/HP_0009546 HP:0009545 biolink:PhenotypicFeature Symphalangism of the 2nd finger UMLS:C4021446 hp.json Fused index finger bones|Symphalangism of index finger phalanges http://purl.obolibrary.org/obo/HP_0009545 HP:0009540 biolink:PhenotypicFeature Contracture of the proximal interphalangeal joint of the 2nd finger Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. UMLS:C4021451 hp.json Camptodactyly of second finger|Camptodactyly of index finger|Camptodactyly of 2nd finger http://purl.obolibrary.org/obo/HP_0009540 HP:0009542 biolink:PhenotypicFeature Abnormality of the distal phalanx of the 2nd finger UMLS:C4021449 hp.json Abnormality of terminal index finger phalanx|Abnormality of the outermost bone of the 2nd finger http://purl.obolibrary.org/obo/HP_0009542 HP:0009541 biolink:PhenotypicFeature Abnormality of the phalanges of the 2nd finger Abnormality of the phalanges of the 2nd (index) finger. UMLS:C4021450 hp.json Abnormal index finger bones|Abnormality of 2nd finger phalanges http://purl.obolibrary.org/obo/HP_0009541 HP:0009560 biolink:PhenotypicFeature Curved distal phalanx of the 2nd finger Curved appearance of the distal phalanx of the 2nd finger. UMLS:C4024291 hp.json Curved outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009560 HP:0010533 biolink:PhenotypicFeature Spasmus nutans The combination of pendular nystagmus, head nodding, and torticollis. MSH:D013036|UMLS:C0546878|SNOMEDCT_US:18191000 hp.json http://purl.obolibrary.org/obo/HP_0010533 HP:0010532 biolink:PhenotypicFeature Paroxysmal vertigo Paroxysmal episodes of vertigo. SNOMEDCT_US:103290003|UMLS:C0522357|MSH:D014717 hp.json http://purl.obolibrary.org/obo/HP_0010532 HP:0010531 biolink:PhenotypicFeature Spinal myoclonus Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia. SNOMEDCT_US:698836007|UMLS:C3697670 hp.json http://purl.obolibrary.org/obo/HP_0010531 HP:0010530 biolink:PhenotypicFeature Palatal tremor Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral. MSH:D009207|SNOMEDCT_US:9366002|UMLS:C0030214 hp.json Palatal myoclonus http://purl.obolibrary.org/obo/HP_0010530 UBERON:0010355 biolink:AnatomicalEntity ossification center The first step in ossification of the cartilage is that the cartilage cells, at the point where ossification is commencing and which is termed a ossification center, enlarge and arrange themselves in rows. The matrix in which they are imbedded increases in quantity, so that the cells become further separated from each other. A deposit of calcareous material now takes place in this matrix, between the rows of cells, so that they become separated from each other by longitudinal columns of calcified matrix, presenting a granular and opaque appearance. Here and there the matrix between two cells of the same row also becomes calcified, and transverse bars of calcified substance stretch across from one calcareous column to another. Thus there are longitudinal groups of the cartilage cells enclosed in oblong cavities, the walls of which are formed of calcified matrix which cuts off all nutrition from the cells; the cells, in consequence, atrophy, leaving spaces called the primary areolC&. FMA:75436 hp.json ossification centre|centrum ossificationis|center of ossification|centrum ossificationis http://purl.obolibrary.org/obo/UBERON_0010355 pheno_slim UBERON:0010354 biolink:AnatomicalEntity Reichert's cartilage pre-cartilage condensation EMAPA:17351 hp.json future Reichert's cartilage|hyoid cartilage pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010354 UBERON:0010348 biolink:AnatomicalEntity hyoid pre-muscle mass EHDAA2:0000795 hp.json hyoid muscle plate http://purl.obolibrary.org/obo/UBERON_0010348 CHEBI:15778 biolink:ChemicalSubstance N-acyl-D-amino acid Any N-acyl-amino acid in which the amino acid moiety has D configuration. hp.json http://purl.obolibrary.org/obo/CHEBI_15778 3_STAR UBERON:0010349 biolink:AnatomicalEntity otic capsule pre-cartilage condensation An otic capsule endochondral element that is composed primarily of a pre-cartilage condensation. EHDAA2:0000833 hp.json otic capsule anlage http://purl.obolibrary.org/obo/UBERON_0010349 HP:0010539 biolink:PhenotypicFeature Thin calvarium The presence of an abnormally thin calvarium. UMLS:C1856231|UMLS:C4280379 hp.json Thin skull bone|Thin cranial bone http://purl.obolibrary.org/obo/HP_0010539 hposlim_core UBERON:0010347 biolink:AnatomicalEntity 6th arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 6th arch mesenchyme. EHDAA2:0004078 hp.json head mesenchyme derived arch 6 mesenchyme|branchial arch 6 mesenchyme from head mesenchyme|pharyngeal arch 6 mesenchyme from head mesenchyme http://purl.obolibrary.org/obo/UBERON_0010347 HP:0010538 biolink:PhenotypicFeature Small sella turcica An abnormally small sella turcica. UMLS:C4023794|UMLS:C4072876|UMLS:C4072875 hp.json Small pituitary fossa|Hypoplasia of sella turcica|Hypoplasia of pituitary fossa|Hypoplasia of hypophseal fossa|Small hypophyseal fossa http://purl.obolibrary.org/obo/HP_0010538 hposlim_core HP:0010537 biolink:PhenotypicFeature Wide cranial sutures An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). UMLS:C0410935|SNOMEDCT_US:268855009 hp.json Broad cranial sutures|Widened cranial sutures|open cranial sutures|Persistent open cranial sutures|Large cranial suture http://purl.obolibrary.org/obo/HP_0010537 hposlim_core HP:0009559 biolink:PhenotypicFeature Bullet-shaped distal phalanx of the 2nd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected. UMLS:C4024292 hp.json Bullet-shaped outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009559 HP:0010536 biolink:PhenotypicFeature Central sleep apnea Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles. MSH:D020182|UMLS:C0520680 hp.json Central sleep apnoea http://purl.obolibrary.org/obo/HP_0010536 HP:0009558 biolink:PhenotypicFeature Broad distal phalanx of the 2nd finger Increased width of the distal phalanx of the 2nd finger. UMLS:C4024293 hp.json Wide outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009558 HP:0010535 biolink:PhenotypicFeature Sleep apnea An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. MSH:D012891|UMLS:C0037315|SNOMEDCT_US:73430006 hp.json Pauses in breathing while sleeping|Sleep apnoea http://purl.obolibrary.org/obo/HP_0010535 HP:0010534 biolink:PhenotypicFeature Transient global amnesia A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information. UMLS:C0338591|SNOMEDCT_US:230736007|MSH:D020236 hp.json http://purl.obolibrary.org/obo/HP_0010534 HP:0009555 biolink:PhenotypicFeature Hypoplasia of the pharynx Underdevelopment of the pharynx. UMLS:C4280396|UMLS:C4024295|UMLS:C4280400|UMLS:C4280399|UMLS:C4280398|UMLS:C4280397 hp.json Hypotrophic pharynx|Decreased length of pharynx|Small pharynx|Decreased size of pharynx|Decreased volume of pharynx|Decreased diameter of pharynx|Underdevelopment of pharynx|Decreased width of pharynx http://purl.obolibrary.org/obo/HP_0009555 HP:0009554 biolink:PhenotypicFeature Preauricular hair displacement An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. UMLS:C4024296 hp.json Hair displacement, preauricular, towards lateral cheekbone|Projection of scalp hair onto lateral cheek|Hair growing down to cheek http://purl.obolibrary.org/obo/HP_0009554 HP:0009557 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanx of the 2nd finger UMLS:C4024294 hp.json Absent/underdeveloped outermost index finger bone|Absent/small outermost index finger bone http://purl.obolibrary.org/obo/HP_0009557 HP:0009556 biolink:PhenotypicFeature Absent tibia Absence of the tibia. UMLS:C3276744 hp.json Absent shankbone|Absent shinbone|Aplasia of the tibia http://purl.obolibrary.org/obo/HP_0009556 hposlim_core HP:0009551 biolink:PhenotypicFeature Patchy sclerosis of 2nd finger phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger. UMLS:C4021442 hp.json Patchy sclerosis of the phalanges of the 2nd finger|Uneven increase in bone density in index finger bone http://purl.obolibrary.org/obo/HP_0009551 HP:0009550 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the 2nd finger UMLS:C4021443 hp.json Lytic defect in index finger phalanges http://purl.obolibrary.org/obo/HP_0009550 OIO:hasAlternativeId biolink:NamedThing has_alternative_id hp.json http://www.geneontology.org/formats/oboInOwl#hasAlternativeId HP:0009553 biolink:PhenotypicFeature Abnormality of the hairline The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. UMLS:C4024297 hp.json Abnormality of the hairline http://purl.obolibrary.org/obo/HP_0009553 HP:0009552 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the 2nd finger UMLS:C4024298 hp.json Absent/underdeveloped index finger bone|Absent/small index finger bone http://purl.obolibrary.org/obo/HP_0009552 CHEBI:76725 biolink:ChemicalSubstance EC 1.* (oxidoreductase) inhibitor An enzyme inhibitor which interferes with the action of an oxidoreductase (EC 1.*.*.*). Wikipedia:Oxidoreductase hp.json EC 1.* inhibitors|oxidoreductase (EC 1.*) inhibitor|oxidoreductase inhibitor|oxidoreductase inhibitors|oxidoreductase (EC 1.*) inhibitors|EC 1.* (oxidoreductase) inhibitors|EC 1.* inhibitor http://purl.obolibrary.org/obo/CHEBI_76725 3_STAR CHEBI:76726 biolink:ChemicalSubstance EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-OH group of donors (EC 1.1.*.*). hp.json oxidoreductase acting on donor CH-OH group inhibitors|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitors|EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitors|EC 1.1.* inhibitors|inhibitor of oxidoreductase acting on CH-OH group of donors|inhibitors of oxidoreductase acting on CH-OH group of donors|inhibitors of oxidoreductase acting on CH-OH group of donor|EC 1.1.* inhibitor|inhibitor of oxidoreductase acting on CH-OH group of donor|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitor|oxidoreductase acting on donor CH-OH group inhibitor http://purl.obolibrary.org/obo/CHEBI_76726 3_STAR CHEBI:15727 biolink:ChemicalSubstance carnosine A dipeptide that is the N-(beta-alanyl) derivative of L-histidine. PMID:17031479|PMID:20017611|CAS:305-84-0|PMID:17443912|PMID:16181134|PMID:11976203|CAS:305-84-0|Reaxys:87671|PMID:33586561|PMID:16162015|KNApSAcK:C00052222|HMDB:HMDB0000033|PMID:15853927|DrugBank:DB11695|PMID:29463897|PMID:16804013|Chemspider:388363|PMID:20681748|PMID:15941308|PMID:8689392|PMID:10841274|PMID:11707898|PMID:24398899|PMID:33704575|PMID:1735411|PMID:18076890|Wikipedia:Carnosine|PMID:16287364|PMID:18773880|KEGG:C00386|PMID:18019400|PMID:10951108|PMID:11470131|PMID:19309105|PMID:12139778|PDBeChem:8V0|PMID:31951767|PMID:16406688|PMID:9928418|PMID:34067694|PMID:10951105|PMID:15878720|PMID:2674258|PMID:9029640|PMID:11911459 hp.json N-beta-alanyl-L-histidine|ignotine|beta-alanyl-L-histidine|Carnosine|beta-alanyl-L-histidine|(2S)-2-(3-aminopropanamido)-3-(1H-imidazol-4-yl)propanoic acid|N(alpha)-(beta-alanyl)-L-histidine|N-2-M|Nalpha-(beta-alanyl)-L-histidine|N-(3-aminopropanoyl)-L-histidine|L-carnosine|Karnozin|Karnozzn http://purl.obolibrary.org/obo/CHEBI_15727 3_STAR HP:0010591 biolink:PhenotypicFeature Abnormality of the proximal tibial epiphysis Any abnormality of the proximal epiphysis of the tibia. UMLS:C4023782 hp.json Abnormality of the end part of innermost shankbone|Abnormality of the end part of innermost shinbone http://purl.obolibrary.org/obo/HP_0010591 HP:0010590 biolink:PhenotypicFeature Abnormality of the distal femoral epiphysis Any abnormality of the distal epiphysis of the femur. UMLS:C4023783 hp.json Abnormality of the end part of the outermost thighbone http://purl.obolibrary.org/obo/HP_0010590 HP:0010599 biolink:PhenotypicFeature Abnormality of the distal humeral epiphysis Any abnormality of the distal epiphysis of the humerus. UMLS:C4023774 hp.json Abnormality of the end part of the outermost long bone in upper arm http://purl.obolibrary.org/obo/HP_0010599 HP:0010598 biolink:PhenotypicFeature Abnormality of the proximal humeral epiphysis Any abnormality of the proximal epiphysis of the humerus. UMLS:C4023775 hp.json Abnormality of the end part of the innermost long bone in upper arm http://purl.obolibrary.org/obo/HP_0010598 HP:0010597 biolink:PhenotypicFeature Abnormality of the distal radial epiphysis Any abnormality of the distal epiphysis of the radius. UMLS:C4023776 hp.json http://purl.obolibrary.org/obo/HP_0010597 HP:0010596 biolink:PhenotypicFeature Abnormality of the proximal radial epiphysis Any abnormality of the proximal epiphysis of the radius. UMLS:C4023777 hp.json http://purl.obolibrary.org/obo/HP_0010596 HP:0010595 biolink:PhenotypicFeature Abnormality of the distal fibular epiphysis Any abnormality of the distal epiphysis of the fibula. UMLS:C4023778 hp.json Abnormality of the outermost end part of calf bone http://purl.obolibrary.org/obo/HP_0010595 HP:0010594 biolink:PhenotypicFeature Abnormality of the proximal fibular epiphysis Any abnormality of the proximal epiphysis of the fibula. UMLS:C4023779 hp.json Abnormality of the innermost end part of calf bone http://purl.obolibrary.org/obo/HP_0010594 HP:0010593 biolink:PhenotypicFeature Abnormality of fibular epiphyses UMLS:C4023780 hp.json Abnormality of the end part of the calf bone http://purl.obolibrary.org/obo/HP_0010593 HP:0010592 biolink:PhenotypicFeature Abnormality of the distal tibial epiphysis UMLS:C4023781 hp.json Abnormality of the end part of outermost shinbone|Abnormality of the end part of outermost shankbone http://purl.obolibrary.org/obo/HP_0010592 HP:0010580 biolink:PhenotypicFeature Enlarged epiphyses Increased size of epiphyses. UMLS:C1833328 hp.json Large end part of bone|Widened, distorted epiphyses|Large epiphyses http://purl.obolibrary.org/obo/HP_0010580 HP:0009591 biolink:PhenotypicFeature Abnormality of the vestibulocochlear nerve Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain. UMLS:C4021431 hp.json Abnormality of the eighth cranial nerve|Abnormality of the VIIIth cranial nerve http://purl.obolibrary.org/obo/HP_0009591 HP:0009590 biolink:PhenotypicFeature Unilateral vestibular schwannoma A unilateral vestibular Schwannoma (acoustic neurinoma). UMLS:C1863653 hp.json http://purl.obolibrary.org/obo/HP_0009590 HP:0009593 biolink:PhenotypicFeature Peripheral Schwannoma The presence of a peripheral schwannoma. UMLS:C4024276 hp.json http://purl.obolibrary.org/obo/HP_0009593 HP:0009592 biolink:PhenotypicFeature Astrocytoma Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. UMLS:C0004114|SNOMEDCT_US:38713004|MSH:D001254 hp.json http://purl.obolibrary.org/obo/HP_0009592 UBERON:0036990 biolink:AnatomicalEntity wall of pharyngotympanic tube FMA:60069 hp.json pharyngotympanic tube wall http://purl.obolibrary.org/obo/UBERON_0036990 HP:0010588 biolink:PhenotypicFeature Premature epimetaphyseal fusion Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. UMLS:C0151628|SNOMEDCT_US:89493005 hp.json Premature closure of epiphyses http://purl.obolibrary.org/obo/HP_0010588 HP:0010587 biolink:PhenotypicFeature Triangular epiphyses UMLS:C4023784 hp.json Triangular end part of bone http://purl.obolibrary.org/obo/HP_0010587 HP:0010585 biolink:PhenotypicFeature Small epiphyses Reduction in the size or volume of epiphyses. UMLS:C1846803 hp.json Small end part of bone http://purl.obolibrary.org/obo/HP_0010585 HP:0010584 biolink:PhenotypicFeature Pseudoepiphyses UMLS:C1841685 hp.json http://purl.obolibrary.org/obo/HP_0010584 HP:0010583 biolink:PhenotypicFeature Ivory epiphyses Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C1856911 hp.json Increased bone density in end part of bone|Epiphyseal sclerosis http://purl.obolibrary.org/obo/HP_0010583 HP:0010582 biolink:PhenotypicFeature Irregular epiphyses An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. UMLS:C1846449 hp.json Irregular end part of long bone http://purl.obolibrary.org/obo/HP_0010582 CHEBI:64767 biolink:ChemicalSubstance anionic group A group that carries an overall negative charge. hp.json anionic groups http://purl.obolibrary.org/obo/CHEBI_64767 3_STAR HP:0009588 biolink:PhenotypicFeature Vestibular schwannoma A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear. NCIT:C3269|SNOMEDCT_US:126949007|MSH:D009464|SNOMEDCT_US:985004|UMLS:C0027859 hp.json Vestibular Schwann cell tumor|Vestibular neurolemmoma|Vestibular neurinoma|Vestibular neurilemmoma|Acoustic Neuroma|Vestibular Schwann cell tumour http://purl.obolibrary.org/obo/HP_0009588 hposlim_core UBERON:0022351 biolink:AnatomicalEntity parietal serous membrane Serous membrane layer that lines to a body cavity. FMA:15859|MA:0002448 hp.json parietal wall of serous membrane|cavity lining http://purl.obolibrary.org/obo/UBERON_0022351 UBERON:0022350 biolink:AnatomicalEntity visceral serous membrane Serous membrane layer that is adjacent to and lines an organ. FMA:15860 hp.json visceral wall of serous membrane http://purl.obolibrary.org/obo/UBERON_0022350 HP:0009587 biolink:PhenotypicFeature Triangular shaped proximal phalanx of the 2nd finger Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4021432 hp.json Triangular proximal index finger phalanx|Triangular shaped innermost bone of index finger http://purl.obolibrary.org/obo/HP_0009587 CHEBI:15740 biolink:ChemicalSubstance formate A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects. KEGG:C00058|PMID:17190852|CAS:71-47-6|MetaCyc:FORMATE|Gmelin:1006|Wikipedia:Formate|UM-BBD_compID:c0106|CAS:71-47-6|PMID:3946945|HMDB:HMDB0000142|Reaxys:1901205|Beilstein:1901205 hp.json formiate|methanoate|formylate|hydrogen carboxylate|formate|HCO2 anion|aminate|formate|formic acid, ion(1-) http://purl.obolibrary.org/obo/CHEBI_15740 3_STAR OBO:chebi#is_conjugate_base_of biolink:NamedThing is conjugate base of hp.json http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of HP:0009589 biolink:PhenotypicFeature Bilateral vestibular schwannoma A bilateral vestibular Schwannoma (acoustic neurinoma). MSH:D016518|UMLS:C1136042 hp.json Bilateral acoustic neuromas http://purl.obolibrary.org/obo/HP_0009589 UBERON:0022355 biolink:AnatomicalEntity basal layer of endometrium The layer of endometrial epithelium adjacent to the uterine cavity. FMA:86492|NCIT:C32189 hp.json stratum basalis of endometrium|pars basalis of endometrium http://purl.obolibrary.org/obo/UBERON_0022355 human_reference_atlas HP:0009584 biolink:PhenotypicFeature Osteolytic defects of the proximal phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger. UMLS:C4021433 hp.json Lytic defects of proximal index finger phalanx http://purl.obolibrary.org/obo/HP_0009584 HP:0009583 biolink:PhenotypicFeature Curved proximal phalanx of the 2nd finger Curved appearance of the proximal phalanx of the 2nd finger. UMLS:C4024279 hp.json Curved innermost bone of index finger http://purl.obolibrary.org/obo/HP_0009583 HP:0009586 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanx of the 2nd finger Fusion of the proximal phalanx of the 2nd finger with another bone. UMLS:C4024277 hp.json Fused innermost bone of index finger http://purl.obolibrary.org/obo/HP_0009586 UBERON:0022357 biolink:AnatomicalEntity mesentery of ileum FMA:14652 hp.json ileal mesentery|ileum mesentery|mesoileum http://purl.obolibrary.org/obo/UBERON_0022357 HP:0009585 biolink:PhenotypicFeature Patchy sclerosis of the proximal phalanx of the 2nd finger Uneven (irregular) increase in bone density of the proximal phalanx of the second finger. UMLS:C4024278 hp.json Uneven increase in bone density in innermost index finger bone http://purl.obolibrary.org/obo/HP_0009585 HP:0046508 biolink:PhenotypicFeature Abnormal cervical spine morphology Any morphological abnormality of the cervical vertebral column. SNOMED_CT:298391004 hp.json http://purl.obolibrary.org/obo/HP_0046508 UBERON:0022358 biolink:AnatomicalEntity placenta blood vessel A blood vessel of the placenta. SCTID:280716005 hp.json placental vessel http://purl.obolibrary.org/obo/UBERON_0022358 HP:0046504 biolink:PhenotypicFeature Decreased libido Decreased sexual desire. hp.json http://purl.obolibrary.org/obo/HP_0046504 HP:0046505 biolink:PhenotypicFeature Hand pain An unpleasant sensation characterized by physical discomfort localized to the hand. hp.json http://purl.obolibrary.org/obo/HP_0046505 UBERON:0010392 biolink:AnatomicalEntity B cell domain hp.json http://purl.obolibrary.org/obo/UBERON_0010392 HP:0046506 biolink:PhenotypicFeature Pain in head and neck region hp.json http://purl.obolibrary.org/obo/HP_0046506 CHEBI:76759 biolink:ChemicalSubstance EC 3.* (hydrolase) inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). Wikipedia:Hydrolase hp.json hydrolase (EC 3.*) inhibitors|EC 3.* inhibitors|hydrolase (EC 3.*) inhibitor|EC 3.* inhibitor|EC 3.*.*.* inhibitors|EC 3.* (hydrolase) inhibitors|hydrolase inhibitors|hydrolase inhibitor|EC 3.*.*.* inhibitor http://purl.obolibrary.org/obo/CHEBI_76759 3_STAR HP:0046507 biolink:PhenotypicFeature Bradypnea Bradypnea is referring to breathing that is abnormally slow. SNOMED_CT:86684002 hp.json http://purl.obolibrary.org/obo/HP_0046507 UBERON:0010390 biolink:AnatomicalEntity lumen of urethra An organ cavity that is part of a urethra. FMA:19709 hp.json urethral lumen http://purl.obolibrary.org/obo/UBERON_0010390 UBERON:0010395 biolink:AnatomicalEntity lymph node primary follicle An unstimulated network of follicular dendritic cells and small resting B cells in the lymph node cortex. FMA:312350|MA:0000743|EMAPA:35530 hp.json primary follicle of lymph node http://purl.obolibrary.org/obo/UBERON_0010395 pheno_slim|human_reference_atlas HP:0010577 biolink:PhenotypicFeature Absent epiphyses UMLS:C4021862 hp.json Absent end part of bone http://purl.obolibrary.org/obo/HP_0010577 HP:0010576 biolink:PhenotypicFeature Intracranial cystic lesion A cystic lesion originating within the brain. UMLS:C4021250 hp.json Cerebral cystic malformation http://purl.obolibrary.org/obo/HP_0010576 HP:0010575 biolink:PhenotypicFeature Dysplasia of the femoral head The presence of developmental dysplasia of the femoral head. UMLS:C4280377|UMLS:C4021251 hp.json Dysplastic femoral head|Abnormality of femoral head development http://purl.obolibrary.org/obo/HP_0010575 UBERON:0010393 biolink:AnatomicalEntity T cell domain hp.json http://purl.obolibrary.org/obo/UBERON_0010393 HP:0010574 biolink:PhenotypicFeature Abnormality of the epiphysis of the femoral head Any abnormality of the proximal epiphysis of the femur. UMLS:C4021252 hp.json Abnormality of the end part of the innermost thighbone|Abnormality of the proximal femoral epiphysis http://purl.obolibrary.org/obo/HP_0010574 UBERON:0010394 biolink:AnatomicalEntity lymphocyte domain hp.json http://purl.obolibrary.org/obo/UBERON_0010394 UBERON:0010399 biolink:AnatomicalEntity spleen trabecular artery One of the branches of the splenic artery[MP]. UMLS:C1710159|NCIT:C49775|MA:0000759 hp.json trabecular artery http://purl.obolibrary.org/obo/UBERON_0010399 pheno_slim|human_reference_atlas CHEBI:64775 biolink:ChemicalSubstance organic anionic group An anionic group that contains carbon. hp.json organic anionic groups http://purl.obolibrary.org/obo/CHEBI_64775 3_STAR HP:0010571 biolink:PhenotypicFeature Elevated levels of phytanic acid An abnormal elevation of phytanic acid. UMLS:C4023786 hp.json Elevated levels of phytanic acid http://purl.obolibrary.org/obo/HP_0010571 HP:0010570 biolink:PhenotypicFeature Low maternal circulating alpha-fetoprotein concentration An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. UMLS:C4023787 hp.json Low maternal serum alpha-fetoprotein http://purl.obolibrary.org/obo/HP_0010570 CHEBI:15734 biolink:ChemicalSubstance primary alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. KEGG:C00226 hp.json a primary alcohol|Primary alcohol|1-Alcohol|primary alcohols http://purl.obolibrary.org/obo/CHEBI_15734 3_STAR HP:0010579 biolink:PhenotypicFeature Cone-shaped epiphysis Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. UMLS:C1865037 hp.json Cone-shaped epiphyses|Cone-shaped end part of bone|Coned epiphyses http://purl.obolibrary.org/obo/HP_0010579 UBERON:0022360 biolink:AnatomicalEntity male mammary gland duct A mammary gland duct that is part of a male organism. This structure typically regresses. hp.json http://purl.obolibrary.org/obo/UBERON_0022360 HP:0010578 biolink:PhenotypicFeature Bracket epiphyses UMLS:C4023785 hp.json Bracket shaped end part of long bone http://purl.obolibrary.org/obo/HP_0010578 HP:0009599 biolink:PhenotypicFeature Abnormality of thumb epiphysis Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal. UMLS:C4021429 hp.json Abnormality of the epiphyses of the thumb|Abnormality of end part of thumb long bone|Abnormality of thumb epiphyses http://purl.obolibrary.org/obo/HP_0009599 HP:0009598 biolink:PhenotypicFeature Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal. UMLS:C4024274 hp.json Fused innermost bone of index finger with 2nd long bone of hand http://purl.obolibrary.org/obo/HP_0009598 UBERON:0022361 biolink:AnatomicalEntity lung field A specific region of the foregut into the area in which the lung will develop. SCTID:34922002 hp.json lung field http://purl.obolibrary.org/obo/UBERON_0022361 HP:0046502 biolink:PhenotypicFeature Anorgasmia Inability of individual to reach orgasm. hp.json http://purl.obolibrary.org/obo/HP_0046502 HP:0046503 biolink:PhenotypicFeature Increased libido Elevated sexual desire. hp.json http://purl.obolibrary.org/obo/HP_0046503 HP:0009595 biolink:PhenotypicFeature Occasional neurofibromas Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. UMLS:C3810474 hp.json http://purl.obolibrary.org/obo/HP_0009595 HP:0009594 biolink:PhenotypicFeature Retinal hamartoma A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. UMLS:C1863411 hp.json http://purl.obolibrary.org/obo/HP_0009594 HP:0009597 biolink:PhenotypicFeature Short proximal phalanx of the 2nd finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger. UMLS:C4021430 hp.json Short proximal phalanx of the second finger|Hypoplastic/small proximal phalanx of the 2nd finger|Short proximal index finger phalanx http://purl.obolibrary.org/obo/HP_0009597 HP:0009596 biolink:PhenotypicFeature Aplasia of the proximal phalanx of the 2nd finger Absence of the proximal phalanx of the 2nd finger. UMLS:C4024275 hp.json Absent innermost bone of index finger http://purl.obolibrary.org/obo/HP_0009596 UBERON:0000978 biolink:AnatomicalEntity leg The portion of the hindlimb that contains both the stylopod and zeugopod. MA:0000047|EHDAA2:0000972|GAID:49|BTO:0000721|MESH:D035002|EFO:0001411|CALOHA:TS-2206|VHOG:0000345|EHDAA:8289|EHDAA:6176|OpenCyc:Mx4rvViYzZwpEbGdrcN5Y29ycA|EHDAA:5151|EMAPA:17489 hp.json lower extremity|tetrapod leg http://purl.obolibrary.org/obo/UBERON_0000978 pheno_slim|efo_slim|uberon_slim UBERON:0000979 biolink:AnatomicalEntity tibia The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]. UMLS:C0040184|MA:0001361|EMAPA:19142|galen:Tibia|AAO:0000890|FMA:24476|BTO:0001252|GAID:204|CALOHA:TS-1048|EFO:0003054|OpenCyc:Mx4rvtq3-ZwpEbGdrcN5Y29ycA|NCIT:C12800|MESH:D013977 hp.json shinbone|shankbone http://purl.obolibrary.org/obo/UBERON_0000979 pheno_slim|efo_slim|uberon_slim UBERON:0000974 biolink:AnatomicalEntity neck An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column. AEO:0000108|FMA:7155|MAT:0000297|BTO:0000420|GAID:86|OpenCyc:Mx4rvVjLF5wpEbGdrcN5Y29ycA|EMAPA:35587|Wikipedia:Neck|UMLS:C0027530|NCIT:C13063|MIAA:0000297|SCTID:302550007|MESH:D009333|EFO:0000967|galen:Neck|EHDAA2:0003108|CALOHA:TS-2045|MA:0000024 hp.json collum|neck (volume)|collum http://purl.obolibrary.org/obo/UBERON_0000974 pheno_slim|efo_slim|uberon_slim HGNC:1516 biolink:Gene CAT (human) A protein coding gene CAT in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1516 UBERON:0000975 biolink:AnatomicalEntity sternum A midventral endochondral skeletal element which represents the origin site of the pectoral muscles[PHENOSCAPE:ad]. MESH:D013249|EMAPA:18344|UMLS:C0038293|OpenCyc:Mx4rvVjO6JwpEbGdrcN5Y29ycA|AAO:0000765|MA:0001331|FMA:7485|VHOG:0000856|galen:Sternum|NCIT:C12793|BTO:0001302|CALOHA:TS-0972|EHDAA2:0001914|EHDAA:9561|GAID:246 hp.json breastbone|vertebrate sternum http://purl.obolibrary.org/obo/UBERON_0000975 pheno_slim|uberon_slim UBERON:0000976 biolink:AnatomicalEntity humerus Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah]. galen:Humerus|NCIT:C12731|XAO:0003210|MESH:D006811|GAID:183|EFO:0001398|FMA:13303|VHOG:0001158|UMLS:C0020164|CALOHA:TS-2202|EMAPA:19106|AAO:0000679|MA:0001356 hp.json proximal metapterygial mesomere of pectoral appendage|humerus bone|mesomere 1 of pectoral appendage|proximal metapterygial mesomere of pectoral fin|humeri http://purl.obolibrary.org/obo/UBERON_0000976 pheno_slim|efo_slim|uberon_slim UBERON:0000977 biolink:AnatomicalEntity pleura The invaginated serous membrane that surrounds the lungs (the visceral portion) and lines the walls of the pleural cavity (parietal portion). MESH:D010994|OpenCyc:Mx4rv3zwLZwpEbGdrcN5Y29ycA|GAID:360|SCTID:181609007|FMA:9583|UMLS:C0032225|EV:0100044|CALOHA:TS-2081|EFO:0001980|BTO:0001791|EMAPA:16775|VHOG:0000394|MA:0000433|Wikipedia:Pleura|NCIT:C12469 hp.json pleural tissue|pleura|wall of pleural sac http://purl.obolibrary.org/obo/UBERON_0000977 pheno_slim|efo_slim|uberon_slim UBERON:0036925 biolink:AnatomicalEntity wall of eyeball FMA:58098 hp.json eyeball wall http://purl.obolibrary.org/obo/UBERON_0036925 UBERON:0000981 biolink:AnatomicalEntity femur Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]. EMAPA:19143|MESH:D005269|OpenCyc:Mx4rvVjOJJwpEbGdrcN5Y29ycA|UMLS:C0015811|VHOG:0001159|NCIT:C12717|EFO:0001396|CALOHA:TS-0322|MA:0001359|VSAO:0000186|BTO:0001284|AAO:0000889|XAO:0003214|FMA:9611|galen:Femur|AAO:0000887|GAID:199 hp.json mesomere 1 of pevlic appendage|os femoris|proximal metapterygial mesomere of pelvic fin|femoral bone|proximal metapterygial mesomere of pelvic appendage|thigh bone|os femorale|os longissimum http://purl.obolibrary.org/obo/UBERON_0000981 pheno_slim|efo_slim|uberon_slim UBERON:0000982 biolink:AnatomicalEntity skeletal joint Anatomical cluster that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. XAO:0000171|Wikipedia:Joint|MAT:0000188|BTO:0001686|MA:0000319|NCIT:C13044|RETIRED_EHDAA2:0003182|FMA:7490|SCTID:302536002|VSAO:0000101|MIAA:0000188|EMAPA:35456|MESH:D007596|EFO:0000948|VHOG:0001276|GAID:102|OpenCyc:Mx4rvVjjdpwpEbGdrcN5Y29ycA|CALOHA:TS-2023|UMLS:C0022417|AEO:0000182|TAO:0000367|ZFA:0001596|galen:Joint hp.json articular joint|articulation|joints|joint http://purl.obolibrary.org/obo/UBERON_0000982 pheno_slim|efo_slim|uberon_slim|vertebrate_core|organ_slim UBERON:0000983 biolink:AnatomicalEntity metatarsus region A metapodium region that is part of a pes. FMA:24997|MA:0000049|CALOHA:TS-2221 hp.json metatarsal part of foot|hindlimb equine cannon region|metatarsal region|hindlimb cannon region|hind metapodium|regio metatarsalis|metatarsus http://purl.obolibrary.org/obo/UBERON_0000983 uberon_slim UBERON:0000980 biolink:AnatomicalEntity trochanter A bony prominence near the extremity of the femur that normally serves as attachment points for hip and thigh muscles[MP,modified]. UMLS:C0162370|NCIT:C33814|MA:0002821|FMA:82513|AAO:0000897 hp.json femoral trochanter|trochanter of femur http://purl.obolibrary.org/obo/UBERON_0000980 pheno_slim|uberon_slim UBERON:0000963 biolink:AnatomicalEntity head sensillum MAT:0000204|FBbt:00004114|MIAA:0000204 hp.json http://purl.obolibrary.org/obo/UBERON_0000963 UBERON:0000964 biolink:AnatomicalEntity cornea The transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure. ZFA:0000640|GAID:892|MA:0000266|MESH:D003315|TAO:0000640|EHDAA:10199|AAO:0010344|CALOHA:TS-0171|EFO:0000377|Wikipedia:Cornea|NCIT:C12342|EMAPA:17161|EV:0100341|XAO:0000180|FMA:58238|BTO:0000286|SCTID:181162001|UMLS:C0010031|OpenCyc:Mx4rvViBa5wpEbGdrcN5Y29ycA|EHDAA2:0000316|VHOG:0000164 hp.json cornea of camera-type eye|corneas|tunica cornea http://purl.obolibrary.org/obo/UBERON_0000964 pheno_slim|human_reference_atlas|efo_slim|uberon_slim|vertebrate_core UBERON:0000965 biolink:AnatomicalEntity lens of camera-type eye Transparent part of camera-type eye that helps to refract light to be focused on the retina. AAO:0010348|ZFA:0000035|OpenCyc:Mx4rvVj0fZwpEbGdrcN5Y29ycA|FMA:58241|NCIT:C12743|MESH:A09.371.509|BTO:0000723|TAO:0000035|MA:0000275|UMLS:C0023317|Wikipedia:Lens_(anatomy)|EV:0100343|EMAPA:17838|MAT:0000141|RETIRED_EHDAA2:0000975|CALOHA:TS-0545|XAO:0000008|VHOG:0000169|EHDAA:9057|MESH:D007908|MIAA:0000141|SCTID:181169005 hp.json lens|lens crystallina|lens crystallina|eye lens|crystalline lens|lenses|ocular lens|camera-type eye lens http://purl.obolibrary.org/obo/UBERON_0000965 vertebrate_core|pheno_slim|human_reference_atlas|uberon_slim UBERON:0000966 biolink:AnatomicalEntity retina The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. UMLS:C1278894|Wikipedia:Retina|EHDAA:4757|EMAPA:17168|EV:0100348|BAMS:R|NIFSTD_RETIRED:birnlex_1156|UMLS:C0035298|BIRNLEX:1153|EFO:0000832|MA:0000276|MBA:304325711|VHOG:0000229|ZFA:0000152|UMLS:C0035298|SCTID:181171005|NCIT:C12343|OpenCyc:Mx4rvViTfpwpEbGdrcN5Y29ycA|TAO:0000152|AAO:0010352|XAO:0000009|MAT:0000142|CALOHA:TS-0865|GAID:755|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1862|FMA:58301|BTO:0001175|MIAA:0000142|MESH:D012160|EHDAA2:0001627 hp.json tunica interna of eyeball|retinas|Netzhaut|retina of camera-type eye|inner layer of eyeball http://purl.obolibrary.org/obo/UBERON_0000966 vertebrate_core|pheno_slim|human_reference_atlas|efo_slim|uberon_slim CHEBI:37163 biolink:ChemicalSubstance glucan A polysaccharide composed of glucose residues. KEGG:C01379|CAS:9037-91-6 hp.json Glucan|glucans|glucan http://purl.obolibrary.org/obo/CHEBI_37163 3_STAR UBERON:0000970 biolink:AnatomicalEntity eye An organ that detects light. GAID:69|BILA:0000017|OpenCyc:Mx4rvViTvpwpEbGdrcN5Y29ycA|FBbt:00005162|MESH:D005123|MAT:0000140|EFO:0000827|MIAA:0000140|Wikipedia:Eye|BTO:0000439|EV:0100336|CALOHA:TS-0309 hp.json light-detecting organ|visual apparatus http://purl.obolibrary.org/obo/UBERON_0000970 efo_slim|human_reference_atlas|uberon_slim|major_organ|functional_classification|organ_slim CHEBI:37164 biolink:ChemicalSubstance homopolysaccharide Glycans composed of a single type of monosaccharide residue. They are named by replacing the ending '-ose' of the sugar by '-an'. hp.json homoglycan|homopolysaccharide|homopolysaccharides http://purl.obolibrary.org/obo/CHEBI_37164 3_STAR UBERON:0000971 biolink:AnatomicalEntity ommatidium The smallest morphological and functional unit of the compound eye that consists of a usually limited and often constant number of rhabdomeric photoreceptor cells, cornea-secreting epithelial cells, and interommatidial pigment cells, and may additionally contain crystalline cone cells. Wikipedia:Ommatidium|MAT:0000143|MIAA:0000143|HAO:0000666|FBbt:00004510|BTO:0001922 hp.json omatidia|omatidium http://purl.obolibrary.org/obo/UBERON_0000971 uberon_slim UBERON:0022302 biolink:AnatomicalEntity short ciliary nerve A branch of the ciliary ganglion that innervates the ciliary muscles, the iris, and the tunics of the eyeball. FMA:7041 hp.json short ciliary nerve|nervi ciliares breves|nervi ciliares brevis|lower branch of ciliary ganglion http://purl.obolibrary.org/obo/UBERON_0022302 UBERON:0000956 biolink:AnatomicalEntity cerebral cortex The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon. It consists of the neocortex (6 layered cortex or isocortex), the hippocampal formation and the olfactory cortex. MAT:0000108|EMAPA:17544|DHBA:10159|PBA:128011354|BAMS:C|Wikipedia:Cerebral_cortex|EFO:0000328|BIRNLEX:1494|UMLS:C0007776|BAMS:Cerebral_cortex|MIAA:0000108|BAMS:Cx|FMA:61830|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=39|EHDAA2:0000234|NCIT:C12443|MA:0000185|MBA:688|GAID:629|EV:0100166|SCTID:362880003|HBA:4008|VHOG:0000722|EHDAA:5464|BM:Tel-Cx|CALOHA:TS-0091|MESH:D002540|BTO:0000233|UMLS:C0007776|BAMS:CTX hp.json cortical plate (CTXpl)|cortical plate (areas)|cortex cerebri|cortex cerebri|pallium of the brain|cortex cerebralis|brain cortex|cortex of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0000956 pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0022303 biolink:AnatomicalEntity nervous system cell part layer Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. NLX:149357 hp.json lamina|layer http://purl.obolibrary.org/obo/UBERON_0022303 cumbo UBERON:0000957 biolink:AnatomicalEntity lamina Any thin layer or plate. Wikipedia:Lamina_of_the_vertebral_arch hp.json laminar tissue http://purl.obolibrary.org/obo/UBERON_0000957 uberon_slim|non_informative|upper_level CHEBI:50114 biolink:ChemicalSubstance estrogen A hormone that stimulates or controls the development and maintenance of female sex characteristics in mammals by binding to oestrogen receptors. The oestrogens are named for their importance in the oestrous cycle. The oestrogens that occur naturally in the body, notably estrone, estradiol, estriol, and estetrol are steroids. Other compounds with oestrogenic activity are produced by plants (phytoestrogens) and fungi (mycoestrogens); synthetic compounds with oestrogenic activity are known as xenoestrogens. Wikipedia:Estrogen hp.json oestrogen|Oestrogen|estrogenes|oestrogenes|oestrogene|Oestrogene|Estrogene|estrogene|oestrogens|estrogens|estrogenes Hormon|estrogeno|estrogenos http://purl.obolibrary.org/obo/CHEBI_50114 3_STAR UBERON:0000958 biolink:AnatomicalEntity medulla of organ Middle part of an organ, surrounded by the cortex. FMA:61108|galen:Medulla hp.json medulla http://purl.obolibrary.org/obo/UBERON_0000958 upper_level CHEBI:50113 biolink:ChemicalSubstance androgen A sex hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. hp.json androgenes|androgene|Androgene|androgens|androgeno|androgenos|Androgen http://purl.obolibrary.org/obo/CHEBI_50113 3_STAR UBERON:0000959 biolink:AnatomicalEntity optic chiasma A decussation of the diencephalon where the fibers of the optic nerve cross. ZFA:0000556|DHBA:10644|UMLS:C0029126|EHDAA:10227|NCIT:C90609|BAMS:och|TAO:0000556|BAMS:ox|HBA:9310|AAO:0010622|EHDAA2:0001302|DMBA:17783|BAMS:OC|MBA:117|UMLS:C0029126|MA:0001098|VHOG:0000190|BIRNLEX:1416|FMA:62045|MESH:D009897|BAMS:DC|BM:Tel-OCX|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=459|EMAPA:17603|XAO:0004071|GAID:832 hp.json chiasma opticum|chiasma|optic chiasm (Rufus of Ephesus)|optic chiasm|decussation of optic nerve fibers|chiasma nervorum opticorum http://purl.obolibrary.org/obo/UBERON_0000959 uberon_slim|vertebrate_core|pheno_slim UBERON:0000955 biolink:AnatomicalEntity brain The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. FMA:50801|EMAPA:16894|MESH:D001921|MA:0000168|ABA:Brain|OpenCyc:Mx4rvVjT65wpEbGdrcN5Y29ycA|DHBA:10155|AAO:0010478|XAO:0000010|GAID:571|EHDAA:2641|MBA:8|CALOHA:TS-0095|MBA:997|EFO:0000302|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=21|SCTID:258335003|UMLS:C1269537|galen:Brain|BIRNLEX:796|BAMS:Br|MAT:0000098|UMLS:C0006104|BILA:0000135|EV:0100164|EHDAA:6485|HBA:4005|ZFA:0000008|VHOG:0000157|Wikipedia:Brain|EHDAA2:0000183|FBbt:00005095|BTO:0000142|PBA:3999|UMLS:C0006104|MIAA:0000098|BAMS:Brain|TAO:0000008|NCIT:C12439 hp.json suprasegmental structures|encephalon|the brain|suprasegmental levels of nervous system|synganglion http://purl.obolibrary.org/obo/UBERON_0000955 major_organ|vertebrate_core|pheno_slim|efo_slim|human_reference_atlas|cumbo|uberon_slim UBERON:0000962 biolink:AnatomicalEntity nerve of cervical vertebra The cervical nerves are the spinal nerves from the cervical vertebrae. Although there are seven cervical vertebrae (C1-C7), there are eight cervical nerves (C1-C8). All nerves except C8 emerge above their corresponding vertebrae, while the C8 nerve emerges below the C7 vertebra. (In the other portions of the spine, the nerve emerges below the vertebra with the same name. Dorsal (posterior) distribution includes the greater occipital (C2) and third occipital (C3). Ventral (anterior) distribution includes the cervical plexus (C1-C4) and brachial plexus (C5-C8) [WP,unvetted]. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2351|NCIT:C32299|Wikipedia:Cervical_nerves|SCTID:360497008|FMA:5859|BAMS:cern|UMLS:C0228815|NLXANAT:20090207 hp.json cervical spinal nerve|nervus cervicalis|cervical nerve tree|cervical nerve http://purl.obolibrary.org/obo/UBERON_0000962 uberon_slim CHEBI:50112 biolink:ChemicalSubstance sex hormone Any hormone that is responsible for controlling sexual characteristics and reproductive function. hp.json Sexualhormon|hormone sexuelle|Sexualhormone|sex hormones|Geschlechtshormon|hormones sexuelles|Geschlechtshormone http://purl.obolibrary.org/obo/CHEBI_50112 3_STAR UBERON:0000945 biolink:AnatomicalEntity stomach An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. NCIT:C12391|MESH:D013270|ANISEED:1235297|EFO:0000837|EV:0100070|UMLS:C0038351|CALOHA:TS-0980|MIAA:0000051|SCTID:181246003|FMA:7148|AAO:0000579|BTO:0001307|VHOG:0000408|MA:0000353|EHDAA:2993|EMAPA:17021|galen:Stomach|GAID:293|TAO:0002121|Wikipedia:Stomach|EHDAA2:0001915|XAO:0000128|OpenCyc:Mx4rvVjlqpwpEbGdrcN5Y29ycA|MAT:0000051 hp.json ventriculus|anterior intestine|stomach chamber|gaster|ventriculus|mesenteron http://purl.obolibrary.org/obo/UBERON_0000945 uberon_slim|major_organ|vertebrate_core|organ_slim|pheno_slim|efo_slim UBERON:0000946 biolink:AnatomicalEntity cardial valve A membranous fold of the heart that prevents reflux of fluid. TAO:0005065|MESH:D006351|VHOG:0000818|XAO:0004126|GAID:176|FMA:7110|galen:HeartValve|EV:0100024|MA:0000086|UMLS:C0018826|BTO:0000564|EMAPA:17869|ZFA:0005065|NCIT:C12729|OpenCyc:Mx4rv8oyuJwpEbGdrcN5Y29ycA hp.json cardiac valve|stomodaeal valve|valve of heart|heart valves|heart valve|heart valve|valvule http://purl.obolibrary.org/obo/UBERON_0000946 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas UBERON:0000947 biolink:AnatomicalEntity aorta The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation. galen:Aorta|GAID:469|CALOHA:TS-0046|EMAPA:18601|NCIT:C12669|SCTID:181298001|Wikipedia:Aorta|EV:0100027|OpenCyc:Mx4rvVjvTpwpEbGdrcN5Y29ycA|AAO:0010213|XAO:0003010|MAT:0000035|UMLS:C0003483|BTO:0000135|MA:0000062|MESH:D001011|EFO:0000265|VHOG:0001523|FMA:3734|MIAA:0000035 hp.json trunk of systemic arterial tree|dorsal aorta|dorsal aorta|arteria maxima|trunk of aortic tree|arteria maxima http://purl.obolibrary.org/obo/UBERON_0000947 uberon_slim|grouping_class|pheno_slim|efo_slim|human_reference_atlas CHEBI:50103 biolink:ChemicalSubstance excitatory amino acid agonist An agent that binds to and activates excitatory amino acid receptors. hp.json excitatory amino acid receptor agonist|excitatory amino acid receptor agonists|excitatory amino acid agonists http://purl.obolibrary.org/obo/CHEBI_50103 3_STAR UBERON:0000948 biolink:AnatomicalEntity heart A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ. MESH:D006321|EHDAA2:0000738|Wikipedia:Heart|CALOHA:TS-0445|NCIT:C12727|VHOG:0000276|EMAPA:16105|EFO:0000815|SCTID:302509004|BILA:0000020|ZFA:0000114|EV:0100018|TAO:0000114|XAO:0000064|OpenCyc:Mx4rvVjvDpwpEbGdrcN5Y29ycA|GAID:174|EHDAA:420|MAT:0000036|FMA:7088|AAO:0010210|galen:Heart|UMLS:C0018787|MIAA:0000036|MA:0000072|BTO:0000562 hp.json vertebrate heart|cardium|branchial heart|chambered heart|chambered heart http://purl.obolibrary.org/obo/UBERON_0000948 uberon_slim|vertebrate_core|major_organ|organ_slim|pheno_slim|efo_slim|human_reference_atlas UBERON:0000941 biolink:AnatomicalEntity cranial nerve II Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. BIRNLEX:1640|TAO:0000435|MBA:848|EMAPA:17575|XAO:0000188|OpenCyc:Mx4rvVjLm5wpEbGdrcN5Y29ycA|UMLS:C0029130|EHDAA2:0001313|DHBA:15544|EHDAA:6788|AAO:0010345|FMA:50863|BAMS:IIn|BAMS:nII|NCIT:C12761|MA:0001097|MESH:D009900|CALOHA:TS-0713|EFO:0004258|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=289|VHOG:0000543|HBA:9307|ZFA:0000435|BAMS:2n|GAID:831|UMLS:C0029130 hp.json 02 optic nerve|CN-II|nerve II|nervus opticus [II]|optic|optic nerve [II]|optic II|optic nerve|nervus opticus|cranial II|second cranial nerve|2n|optic II nerve http://purl.obolibrary.org/obo/UBERON_0000941 vertebrate_core|pheno_slim|efo_slim|uberon_slim UBERON:0000949 biolink:AnatomicalEntity endocrine system Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. NCIT:C12705|CALOHA:TS-1301|SCTID:278876000|XAO:0000158|VHOG:0000098|FMA:9668|ZFA:0001158|EFO:0002969|MESH:D004703|EV:0100128|MA:0000012|TAO:0001158|AAO:0010279|EHDAA2:0002224|FBbt:00005068|EMAPA:35306|GAID:439|Wikipedia:Endocrine_system|UMLS:C0014136 hp.json endocrine system|endocrine glandular system|systema endocrinum http://purl.obolibrary.org/obo/UBERON_0000949 uberon_slim|vertebrate_core|pheno_slim|efo_slim GO:1904588 biolink:BiologicalProcess cellular response to glycoprotein Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glycoprotein stimulus. hp.json cellular response to glycoproteins http://purl.obolibrary.org/obo/GO_1904588 GO:1904587 biolink:BiologicalProcess response to glycoprotein Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glycoprotein stimulus. hp.json response to glycoproteins http://purl.obolibrary.org/obo/GO_1904587 CHEBI:37142 biolink:ChemicalSubstance organoiodine compound An organoiodine compound is a compound containing at least one carbon-iodine bond. MetaCyc:Organoiodine-Compounds|Wikipedia:Organoiodine_compound hp.json organoiodine compound|organoiodine compounds http://purl.obolibrary.org/obo/CHEBI_37142 3_STAR UBERON:0000951 biolink:AnatomicalEntity rotator muscle of the vertebral column Any of a number of short transversospinal muscles chiefly developed in cervical, lumbar, and thoracic regions, arising from the transverse process of one vertebra and inserted into the root of the spinous process of the next two or three vertebrae above, with nerve supply from the dorsal branches of the spinal nerve, and whose actions rotate the vertebral column. FMA:23081 hp.json rotator muscle http://purl.obolibrary.org/obo/UBERON_0000951 HP:0010522 biolink:PhenotypicFeature Dyslexia A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). MSH:D004410|UMLS:C0476254|SNOMEDCT_US:9236007|SNOMEDCT_US:52824009|SNOMEDCT_US:59770006 hp.json Reading disability http://purl.obolibrary.org/obo/HP_0010522 HP:0010521 biolink:PhenotypicFeature Gait apraxia Gait apraxia affecting the ability to make walking movements with the legs. UMLS:C1510417|MSH:D020235|SNOMEDCT_US:30767006 hp.json http://purl.obolibrary.org/obo/HP_0010521 UBERON:0010341 biolink:AnatomicalEntity 1st arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch mesenchyme. EMAPA:16130 hp.json mesenchyme derived from head mesoderm of mesenchyme of 1st arch http://purl.obolibrary.org/obo/UBERON_0010341 NCBITaxon:337687 biolink:OrganismalEntity Muroidea PMID:15371245|PMID:15019624|GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_337687 UBERON:0010344 biolink:AnatomicalEntity 3rd arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 3rd arch mesenchyme. EMAPA:16403|EHDAA2:0000082 hp.json head mesenchyme derived arch 3 mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 3rd arch|pharyngeal arch 3 mesenchyme from head mesenchyme|branchial arch 3 mesenchyme from head mesenchyme http://purl.obolibrary.org/obo/UBERON_0010344 UBERON:0010345 biolink:AnatomicalEntity 4th arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 4th arch mesenchyme. EHDAA2:0000097|EMAPA:16771 hp.json head mesenchyme derived arch 4 mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 4th arch|pharyngeal arch 4 mesenchyme from head mesenchyme|branchial arch 4 mesenchyme from head mesenchyme http://purl.obolibrary.org/obo/UBERON_0010345 UBERON:0010343 biolink:AnatomicalEntity 2nd arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 2nd arch mesenchyme. EHDAA2:0000067|EMAPA:16280 hp.json head mesenchyme derived arch 2 mesenchyme|branchial arch 2 mesenchyme from head mesenchyme|pharyngeal arch 2 mesenchyme from head mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 2nd arch http://purl.obolibrary.org/obo/UBERON_0010343 UBERON:0010337 biolink:AnatomicalEntity mandibular process mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a mandibular process mesenchyme. EHDAA2:0004604 hp.json http://purl.obolibrary.org/obo/UBERON_0010337 HP:0010529 biolink:PhenotypicFeature Echolalia The tendency to repeat vocalizations made by another person. SNOMEDCT_US:64712007|UMLS:C0013528|UMLS:C4280380|MSH:D004454 hp.json Repeated speech|Echologia|Echoing another person's speech|Echophrasia http://purl.obolibrary.org/obo/HP_0010529 UBERON:0010338 biolink:AnatomicalEntity 1st arch maxillary mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch maxillary mesenchyme. EHDAA2:0000043 hp.json http://purl.obolibrary.org/obo/UBERON_0010338 HP:0009529 biolink:PhenotypicFeature Irregular epiphysis of the proximal phalanx of the 2nd finger UMLS:C4024307 hp.json Irregular end part of innermost long bone of index finger http://purl.obolibrary.org/obo/HP_0009529 UBERON:0010335 biolink:AnatomicalEntity maxillary process mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a maxillary process mesenchyme. EHDAA2:0004602 hp.json http://purl.obolibrary.org/obo/UBERON_0010335 HP:0010528 biolink:PhenotypicFeature Prosopagnosia Inability to recognize faces of familiar persons. UMLS:C0234512|SNOMEDCT_US:18358003|MSH:D020238 hp.json Face blindness|Facial agnosia http://purl.obolibrary.org/obo/HP_0010528 UBERON:0010336 biolink:AnatomicalEntity mandibular process mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a mandibular process mesenchyme. EHDAA2:0004603 hp.json http://purl.obolibrary.org/obo/UBERON_0010336 HP:0010527 biolink:PhenotypicFeature Astereognosia Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. MSH:D000377|UMLS:C0234505|SNOMEDCT_US:25094008 hp.json Astereognosis|Somatosensory agnosia http://purl.obolibrary.org/obo/HP_0010527 HP:0009526 biolink:PhenotypicFeature Cone-shaped epiphysis of the proximal phalanx of the 2nd finger UMLS:C4021456 hp.json Cone-shaped end part of innermost long bone of index finger|Cone-shaped epiphysis of proximal index finger phalanx http://purl.obolibrary.org/obo/HP_0009526 HP:0010526 biolink:PhenotypicFeature Dysgraphia A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment. MSH:D000381|UMLS:C0234144|SNOMEDCT_US:88278002 hp.json http://purl.obolibrary.org/obo/HP_0010526 HP:0010525 biolink:PhenotypicFeature Finger agnosia An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. MSH:D000377|SNOMEDCT_US:3449007|UMLS:C0234509 hp.json http://purl.obolibrary.org/obo/HP_0010525 HP:0009525 biolink:PhenotypicFeature Bracket epiphysis of the proximal phalanx of the 2nd finger An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4021457 hp.json Bracket epiphyses of proximal index finger phalanx|Bracket shaped end part of innermost long bone of index finger http://purl.obolibrary.org/obo/HP_0009525 HP:0010524 biolink:PhenotypicFeature Agnosia Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. MSH:D000377|SNOMEDCT_US:42341009|UMLS:C0001816 hp.json http://purl.obolibrary.org/obo/HP_0010524 UBERON:0010339 biolink:AnatomicalEntity 1st arch mandibular mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch mandibular mesenchyme. EHDAA2:0000036 hp.json http://purl.obolibrary.org/obo/UBERON_0010339 HP:0009528 biolink:PhenotypicFeature Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger UMLS:C4024308 hp.json Fragmentation of end part of innermost long bone of index finger http://purl.obolibrary.org/obo/HP_0009528 HP:0010523 biolink:PhenotypicFeature Alexia An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read. UMLS:C0002018|MSH:D004410|SNOMEDCT_US:9236007 hp.json Text blindness|Word blindness http://purl.obolibrary.org/obo/HP_0010523 HP:0009527 biolink:PhenotypicFeature Enlarged epiphysis of the proximal phalanx of the 2nd finger UMLS:C4021455 hp.json Large epiphysis of proximal index finger phalanx|Enlarged end part of innermost long bone of index finger http://purl.obolibrary.org/obo/HP_0009527 HP:0009522 biolink:PhenotypicFeature Stippling of the epiphysis of the middle phalanx of the 2nd finger UMLS:C4024311 hp.json Speckled calcifications in end part of the middle bone of the index finger http://purl.obolibrary.org/obo/HP_0009522 HP:0009521 biolink:PhenotypicFeature Small epiphysis of the middle phalanx of the 2nd finger UMLS:C4024312 hp.json Small end part of the innermost long bone of index finger http://purl.obolibrary.org/obo/HP_0009521 HP:0009524 biolink:PhenotypicFeature Absent epiphysis of the proximal phalanx of the 2nd finger UMLS:C4024309 hp.json Absent end part of innermost long bone of index finger http://purl.obolibrary.org/obo/HP_0009524 HP:0009523 biolink:PhenotypicFeature Triangular epiphysis of the middle phalanx of the 2nd finger UMLS:C4024310 hp.json Triangular end part of the middle bone of the index finger http://purl.obolibrary.org/obo/HP_0009523 HP:0009520 biolink:PhenotypicFeature Pseudoepiphysis of the middle phalanx of the 2nd finger A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024313 hp.json http://purl.obolibrary.org/obo/HP_0009520 CHEBI:25147 biolink:ChemicalSubstance mandelate Beilstein:3905858|Gmelin:328159|CAS:769-61-9|Beilstein:4135334 hp.json mandelate ion|2-hydroxy-2-(4-hydroxyphenyl)acetate|alpha-hydroxybenzeneacetic acid, ion(1-)|alpha-hydroxybenzeneacetate|mandelate|hydroxy(phenyl)acetate http://purl.obolibrary.org/obo/CHEBI_25147 3_STAR HP:0010511 biolink:PhenotypicFeature Long toe Toes that appear disproportionately long compared to the foot. UMLS:C3150613 hp.json Increased length of toes|Long toe|Long toes http://purl.obolibrary.org/obo/HP_0010511 hposlim_core UBERON:0010330 biolink:AnatomicalEntity eyelid mesenchyme Mesenchyme that is part of a developing eyelid. EMAPA:32759 hp.json http://purl.obolibrary.org/obo/UBERON_0010330 HP:0010510 biolink:PhenotypicFeature Hypermobility of toe joints An ability of the toe joints to move beyond their normal range of motion. UMLS:C4023798 hp.json http://purl.obolibrary.org/obo/HP_0010510 UBERON:0010333 biolink:AnatomicalEntity extraembryonic membrane mesenchyme Mesenchyme that is part of a extraembryonic membrane. hp.json http://purl.obolibrary.org/obo/UBERON_0010333 UBERON:0010334 biolink:AnatomicalEntity maxillary process mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a maxillary process mesenchyme. EHDAA2:0004601 hp.json http://purl.obolibrary.org/obo/UBERON_0010334 UBERON:0010332 biolink:AnatomicalEntity epithelium of handplate An epithelium that is part of a handplate. EMAPA:32630|EHDAA2:0000730 hp.json handplate epithelium http://purl.obolibrary.org/obo/UBERON_0010332 HP:0010519 biolink:PhenotypicFeature Increased fetal movement An abnormal increase in quantity or strength of fetal movements. UMLS:C4021256 hp.json Increased foetal movement|Fetal hyperkinesia|Foetal hyperkinesia http://purl.obolibrary.org/obo/HP_0010519 HP:0010518 biolink:PhenotypicFeature Thyroglossal cyst An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct. MSH:D013955|SNOMEDCT_US:39462005|UMLS:C0040124 hp.json Thyroglossal duct cyst http://purl.obolibrary.org/obo/HP_0010518 hposlim_core HP:0010517 biolink:PhenotypicFeature Ectopic thymus tissue The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. UMLS:C4023795 hp.json Abnormal thymus position http://purl.obolibrary.org/obo/HP_0010517 HP:0010516 biolink:PhenotypicFeature Thymus hyperplasia Enlargement of the thymus. UMLS:C0040115|MSH:D013952 hp.json Thymic hyperplasia|Enlarged thymus http://purl.obolibrary.org/obo/HP_0010516 HP:0009537 biolink:PhenotypicFeature Flexion contracture of the 2nd finger Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected. UMLS:C4021452 hp.json Joint contractures of the 2nd finger http://purl.obolibrary.org/obo/HP_0009537 HP:0010515 biolink:PhenotypicFeature Aplasia/Hypoplasia of the thymus Absence or underdevelopment of the thymus. UMLS:C4023796|UMLS:C3278004 hp.json Thymic hypoplasia or aplasia|Absent/small thymus|Absent/underdeveloped thymus http://purl.obolibrary.org/obo/HP_0010515 HP:0009536 biolink:PhenotypicFeature Short 2nd finger Hypoplasia of the second finger, also known as the index finger. UMLS:C1862142 hp.json Short index finger|Short index finger phalanges|Hypoplastic/small index finger|Short index fingers|Hypoplastic index finger phalanges http://purl.obolibrary.org/obo/HP_0009536 HP:0010514 biolink:PhenotypicFeature Hyperpituitarism Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. MSH:D006964|SNOMEDCT_US:10649000|UMLS:C0020506 hp.json http://purl.obolibrary.org/obo/HP_0010514 HP:0010513 biolink:PhenotypicFeature Pituitary calcification Deposition of calcium salts in the pituitary gland. UMLS:C4023797 hp.json http://purl.obolibrary.org/obo/HP_0010513 HP:0009539 biolink:PhenotypicFeature Contracture of the metacarpophalangeal joint of the 2nd finger Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue. UMLS:C4024301 hp.json http://purl.obolibrary.org/obo/HP_0009539 UBERON:0010328 biolink:AnatomicalEntity limb bud mesenchyme Mesenchyme that is part of a limb bud. hp.json http://purl.obolibrary.org/obo/UBERON_0010328 HP:0009538 biolink:PhenotypicFeature Contracture of the distal interphalangeal joint of the 2nd finger Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. UMLS:C4024302 hp.json http://purl.obolibrary.org/obo/HP_0009538 HP:0010512 biolink:PhenotypicFeature Adrenal calcification Calcification within the adrenal glands. UMLS:C0271750|SNOMEDCT_US:12286000 hp.json http://purl.obolibrary.org/obo/HP_0010512 UBERON:0010329 biolink:AnatomicalEntity paired limb/fin bud mesenchyme Mesenchyme that is part of a limb/fin bud. hp.json http://purl.obolibrary.org/obo/UBERON_0010329 HP:0009533 biolink:PhenotypicFeature Stippling of the epiphysis of the proximal phalanx of the 2nd finger UMLS:C4024303 hp.json Speckled calcifications in end part of the innermost long bone of index finger http://purl.obolibrary.org/obo/HP_0009533 CHEBI:15792 biolink:ChemicalSubstance malonate(2-) A dicarboxylic acid dianion obtained by the deprotonation of the carboxy groups of malonic acid. DrugBank:DB02201|PDBeChem:MLI|CAS:156-80-9|Gmelin:141932|Reaxys:3904386|Beilstein:3904386|KEGG:C00383 hp.json malonic acid, ion(2-)|propanedioic acid, ion(2-)|(-)OOC-CH2-COO(-)|propanedioate|malonate|malo|MALONATE ION http://purl.obolibrary.org/obo/CHEBI_15792 3_STAR HP:0009532 biolink:PhenotypicFeature Small epiphysis of the proximal phalanx of the 2nd finger UMLS:C4024304 hp.json Small end part of proximal long bond of index finger http://purl.obolibrary.org/obo/HP_0009532 HP:0009535 biolink:PhenotypicFeature Aplasia of the 2nd finger Absent 2nd (index) finger. UMLS:C4021453 hp.json Absent index finger|Aplasia of the index finger|Absent index finger phalanges http://purl.obolibrary.org/obo/HP_0009535 HP:0009534 biolink:PhenotypicFeature Triangular epiphysis of the proximal phalanx of the 2nd finger UMLS:C4021454 hp.json Triangular end part of innermost long bone of index finger|Triangular epiphysis of proximal index finger phalanx http://purl.obolibrary.org/obo/HP_0009534 HP:0009531 biolink:PhenotypicFeature Pseudoepiphysis of the proximal phalanx of the 2nd finger A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024305 hp.json http://purl.obolibrary.org/obo/HP_0009531 HP:0009530 biolink:PhenotypicFeature Ivory epiphysis of the proximal phalanx of the 2nd finger UMLS:C4024306 hp.json Increased bone density of end part of the innermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009530 UBERON:0000996 biolink:AnatomicalEntity vagina A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. MA:0000394|GAID:381|UMLS:C0042232|FMA:19949|VHOG:0001138|BTO:0000243|CALOHA:TS-1103|NCIT:C12407|EMAPA:18986|galen:Vagina|MAT:0000128|EV:0100117|EFO:0000976|OpenCyc:Mx4rvVj1B5wpEbGdrcN5Y29ycA|MIAA:0000128|MESH:D014621 hp.json vaginae|distal oviductal region|distal portion of oviduct http://purl.obolibrary.org/obo/UBERON_0000996 pheno_slim|efo_slim|uberon_slim UBERON:0000997 biolink:AnatomicalEntity mammalian vulva External genital organs of the female mammal[WP]. MA:0000395|galen:Vulva|GAID:383|VHOG:0001458|MIAA:0000169|BTO:0003101|FMA:20462|NCIT:C12408|EMAPA:36631|CALOHA:TS-1168|EV:0100118|OpenCyc:Mx4rvgAWeJwpEbGdrcN5Y29ycA|EFO:0000978|MESH:D014844|MAT:0000169|UMLS:C0042993 hp.json pudendum muliebre|pudendum femininum|pudendum femininum|puboperineal region|vulva|mammalian vulva|pudendum|female pudendum http://purl.obolibrary.org/obo/UBERON_0000997 pheno_slim|efo_slim|uberon_slim UBERON:0000998 biolink:AnatomicalEntity seminal vesicle Either of a pair of glandular pouches that lie one on either side of the male reproductive tract posterolateral to the urinary bladder and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct. FMA:19386|GAID:394|OpenCyc:Mx4rwTtRpJwpEbGdrcN5Y29ycA|BTO:0001234|VHOG:0001379|UMLS:C0036628|MAT:0000171|EMAPA:19180|MESH:D012669|CALOHA:TS-0919|MA:0000410|AAO:0010788|EV:0100106|MIAA:0000171|NCIT:C12787|EFO:0000986 hp.json vesiculae seminales|vesicular gland|vesicula seminalis|glandula vesiculosa|glandula seminalis|vesiculae seminales|vesicula seminalis|gonecyst|seminal gland|vesicular glands|vesicular seminalis|vas efferens|vesiculæ seminales http://purl.obolibrary.org/obo/UBERON_0000998 pheno_slim|efo_slim|uberon_slim|organ_slim UBERON:0000999 biolink:AnatomicalEntity ejaculatory duct The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted]. EFO:0000985|OpenCyc:Mx4rwOt7MJwpEbGdrcN5Y29ycA|EMAPA:19088|MESH:D004543|NCIT:C32493|UMLS:C0013747|MAT:0000170|CALOHA:TS-0211|BTO:0001580|FMA:19325|GAID:388|MIAA:0000170|MA:0003247 hp.json ductus ejaculatorius|ductus ejaculatorii|ductus ejaculatorii http://purl.obolibrary.org/obo/UBERON_0000999 efo_slim|uberon_slim HP:0010500 biolink:PhenotypicFeature Hyperextensibility of the knee The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). UMLS:C4023802 hp.json http://purl.obolibrary.org/obo/HP_0010500 UBERON:0010323 biolink:AnatomicalEntity cranial skeletal system Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. AAO:0000971|XAO:0003075|ZFA:0000737|VSAO:0000049|AAO:0010185|TAO:0000737|AAO:0000109 hp.json cranium|osteocranium|cranial skeleton http://purl.obolibrary.org/obo/UBERON_0010323 UBERON:0010321 biolink:AnatomicalEntity skeletal element of eye region A skeletal element that is part of a orbital region. hp.json skeletal element of orbital region|eye skeleton|ocular skeleton http://purl.obolibrary.org/obo/UBERON_0010321 CHEBI:350546 biolink:ChemicalSubstance serotonin(1+) An ammonium ion that is the conjugate acid of serotonin; major species at pH 7.3. hp.json serotonin cation|serotonin|2-(5-hydroxy-1H-indol-3-yl)ethanaminium http://purl.obolibrary.org/obo/CHEBI_350546 3_STAR HP:0009508 biolink:PhenotypicFeature Ivory epiphysis of the distal phalanx of the 2nd finger Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4021460 hp.json Ivory epiphysis of terminal index finger phalanx|Increased bone density of end part of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009508 HP:0010508 biolink:PhenotypicFeature Metatarsus valgus A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. UMLS:C4082144|MSH:D000070591 hp.json http://purl.obolibrary.org/obo/HP_0010508 HP:0009507 biolink:PhenotypicFeature Irregular epiphysis of the distal phalanx of the 2nd finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger. UMLS:C4024323 hp.json Irregular end part of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009507 UBERON:0010316 biolink:AnatomicalEntity germ layer / neural crest hp.json http://purl.obolibrary.org/obo/UBERON_0010316 HP:0010507 biolink:PhenotypicFeature Foot asymmetry A difference in size or shape between the left and right foot. UMLS:C4023799 hp.json http://purl.obolibrary.org/obo/HP_0010507 UBERON:0010313 biolink:AnatomicalEntity neural crest-derived structure An anatomical structure that develops from the neural crest. hp.json http://purl.obolibrary.org/obo/UBERON_0010313 grouping_class HP:0010506 biolink:PhenotypicFeature Abnormal plantar dermatoglyphics An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. UMLS:C4021258 hp.json Abnormal prints on feet|Abnormal dermatoglyphics on feet http://purl.obolibrary.org/obo/HP_0010506 HP:0009509 biolink:PhenotypicFeature Pseudoepiphysis of the distal phalanx of the 2nd finger A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024322 hp.json http://purl.obolibrary.org/obo/HP_0009509 UBERON:0010314 biolink:AnatomicalEntity structure with developmental contribution from neural crest An anatomical structure that has some part that develops from the neural crest. hp.json http://purl.obolibrary.org/obo/UBERON_0010314 grouping_class HP:0010505 biolink:PhenotypicFeature Limitation of movement at ankles An abnormal limitation of the mobility of the ankle joint. UMLS:C4023800 hp.json http://purl.obolibrary.org/obo/HP_0010505 HP:0009504 biolink:PhenotypicFeature Cone-shaped epiphysis of the distal phalanx of the 2nd finger A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4024326 hp.json Cone-shaped end part of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009504 HP:0010504 biolink:PhenotypicFeature Increased length of the tibia An abnormal increase in the length of the tibia. UMLS:C4021864 hp.json Increased length of shinbone|Increased length of shankbone http://purl.obolibrary.org/obo/HP_0010504 HP:0009503 biolink:PhenotypicFeature Bracket epiphysis of the distal phalanx of the 2nd finger An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024327 hp.json Bracket shaped end part of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009503 HP:0010503 biolink:PhenotypicFeature Fibular duplication Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. UMLS:C3276742 hp.json Duplicated calf bone http://purl.obolibrary.org/obo/HP_0010503 hposlim_core HP:0009506 biolink:PhenotypicFeature Fragmentation of the epiphysis of the distal phalanx of the 2nd finger Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger. UMLS:C4024324 hp.json Fragmentation of end part of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009506 HP:0010502 biolink:PhenotypicFeature Fibular bowing A bending or abnormal curvature of the fibula. UMLS:C4023801 hp.json Bowed calf bone http://purl.obolibrary.org/obo/HP_0010502 HP:0009505 biolink:PhenotypicFeature Enlarged epiphysis of the distal phalanx of the 2nd finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. UMLS:C4024325 hp.json Enlarged end part of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009505 HP:0010501 biolink:PhenotypicFeature Limitation of knee mobility An abnormal limitation of knee joint mobility. UMLS:C4021259 hp.json Limited knee movement|Limitation of knee mobility http://purl.obolibrary.org/obo/HP_0010501 HP:0009500 biolink:PhenotypicFeature Abnormality of the epiphysis of the middle phalanx of the 2nd finger UMLS:C4021463 hp.json Abnormality of end part of the middle bone of the index finger|Epiphyseal abnormality of middle phalanx of the 2nd finger http://purl.obolibrary.org/obo/HP_0009500 HP:0009502 biolink:PhenotypicFeature Absent epiphysis of the distal phalanx of the 2nd finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger. UMLS:C4021461 hp.json Absent end part of the outermost bone of the index finger|Absent ossification/absent epiphysis of terminal index finger phalanx http://purl.obolibrary.org/obo/HP_0009502 HP:0009501 biolink:PhenotypicFeature Abnormality of the epiphysis of the proximal phalanx of the 2nd finger UMLS:C4021462 hp.json Epiphyseal abnormality of the proximal phalanx of the 2nd finger http://purl.obolibrary.org/obo/HP_0009501 HP:0010509 biolink:PhenotypicFeature Aplasia of the tarsal bones Absence of the tarsal bones. UMLS:C4021257 hp.json Absent tarsals|Absent ankle bone http://purl.obolibrary.org/obo/HP_0010509 UBERON:0000989 biolink:AnatomicalEntity penis An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination. EHDAA:9380|OpenCyc:Mx4rvVjkCZwpEbGdrcN5Y29ycA|EHDAA2:0001433|EMAPA:18682|EMAPA_RETIRED:18996|CALOHA:TS-0758|MA:0000408|FMA:9707|MAT:0000186|galen:Penis|NCIT:C12409|MIAA:0000186|UMLS:C0030851|GAID:389|MESH:D010413|EV:0100107|EFO:0000987|VHOG:0000727|BTO:0000405 hp.json penes|phallus http://purl.obolibrary.org/obo/UBERON_0000989 organ_slim|pheno_slim|efo_slim|uberon_slim UBERON:0000985 biolink:AnatomicalEntity axillary vein Vein that drains the axilla. MESH:D001367|galen:AxillaryVein|FMA:13329|OpenCyc:Mx4rwLSHK5wpEbGdrcN5Y29ycA|GAID:527|MA:0002084|NCIT:C32171|EMAPA:18758|UMLS:C0004456 hp.json subcostal vein|vena axillaris http://purl.obolibrary.org/obo/UBERON_0000985 human_reference_atlas|uberon_slim UBERON:0000988 biolink:AnatomicalEntity pons The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. NCIT:C12511|MAT:0000115|DHBA:10661|BIRNLEX:733|SCTID:279103004|HBA:9131|UMLS:C0032639|BAMS:Pons|BAMS:PONS|CALOHA:TS-0813|MIAA:0000115|Wikipedia:Pons|FMA:67943|EV:0100253|BTO:0001101|MBA:771|BM:Pons|EFO:0001394|GAID:578|EHDAA2:0004394|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=547|UMLS:C1280999|MA:0000204|VHOG:0001176|MESH:D011149|UMLS:C0032639|EMAPA:17563 hp.json pons Varolii|pons cerebri|pons of Varolius http://purl.obolibrary.org/obo/UBERON_0000988 pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0010312 biolink:AnatomicalEntity immature eye Developing anatomical structure that develops into the eyeball and associated structures. TAO:0002201|ZFA:0001678 hp.json future eye http://purl.obolibrary.org/obo/UBERON_0010312 CHEBI:27780 biolink:ChemicalSubstance detergent A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions. KEGG:C01689 hp.json Detergents|detergent http://purl.obolibrary.org/obo/CHEBI_27780 3_STAR UBERON:0010304 biolink:AnatomicalEntity non-keratinized stratified squamous epithelium Stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesizes but does not accumulate keratin. Examples: epithelium of vagina, epithelium of wall of esophagus. FMA:45569 hp.json stratified squamous nonkeratinizing epithelium|stratified squamous non-keratinized epithelium|nonkeratinizing stratified squamous epithelium|epithelium stratificatum squamosum noncornificatum http://purl.obolibrary.org/obo/UBERON_0010304 HP:0009519 biolink:PhenotypicFeature Ivory epiphysis of the middle phalanx of the 2nd finger UMLS:C4024314 hp.json Increased bone density of end part of the middle bone of the index finger http://purl.obolibrary.org/obo/HP_0009519 UBERON:0010305 biolink:AnatomicalEntity subdivision of conjunctiva One of the three major regions of the conjunctiva. FMA:59023 hp.json region of conjunctiva|conjunctiva region http://purl.obolibrary.org/obo/UBERON_0010305 grouping_class HP:0009518 biolink:PhenotypicFeature Irregular epiphysis of the middle phalanx of the 2nd finger UMLS:C4024315 hp.json Irregular end part of the middle long bone of the index finger http://purl.obolibrary.org/obo/HP_0009518 UBERON:0010303 biolink:AnatomicalEntity extraembryonic epithelium An epithelium that is part of a extraembryonic structure. hp.json extra-embryonic epithelium http://purl.obolibrary.org/obo/UBERON_0010303 HP:0009515 biolink:PhenotypicFeature Cone-shaped epiphysis of the middle phalanx of the 2nd finger UMLS:C4021458 hp.json Cone-shaped end part of the middle long bone of the index finger|Cone-shaped epiphyses of middle phalanx of index finger http://purl.obolibrary.org/obo/HP_0009515 UBERON:0010309 biolink:AnatomicalEntity palpebral bone An ossified element investing the upper eyelid. hp.json palpebral http://purl.obolibrary.org/obo/UBERON_0010309 HP:0009514 biolink:PhenotypicFeature Bracket epiphysis of the middle phalanx of the 2nd finger An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024318 hp.json Bracket shaped end part of the middle long bone of the index finger http://purl.obolibrary.org/obo/HP_0009514 HP:0009517 biolink:PhenotypicFeature Fragmentation of the epiphysis of the middle phalanx of the 2nd finger UMLS:C4024316 hp.json Fragmentation of end part of the middle long bone of the index finger http://purl.obolibrary.org/obo/HP_0009517 UBERON:0010306 biolink:AnatomicalEntity bulbar conjunctiva The conjunctiva covering the anterior surface of the sclera and the surface epithelium of the cornea. NCIT:C12902|UMLS:C0229275|FMA:59024 hp.json ocular conjunctiva http://purl.obolibrary.org/obo/UBERON_0010306 pheno_slim HP:0009516 biolink:PhenotypicFeature Enlarged epiphysis of the middle phalanx of the 2nd finger UMLS:C4024317 hp.json Enlarged end part of the middle bone of the index finger http://purl.obolibrary.org/obo/HP_0009516 UBERON:0000992 biolink:AnatomicalEntity ovary The gonad of a female organism which contains germ cells. MESH:D010053|MIAA:0000125|BILA:0000125|SCTID:181464007|FMA:7209|EHDAA:8124|EHDAA2:0001360|UMLS:C0029939|ZFA:0000403|AAO:0000371|CALOHA:TS-0730|XAO:0000258|EMAPA:17962|GAID:367|TAO:0000403|FBbt:00004865|NCIT:C12404|BSA:0000080|VHOG:0000251|Wikipedia:Ovary|OpenCyc:Mx4rvVi9QJwpEbGdrcN5Y29ycA|BTO:0000975|EFO:0000973|MA:0000384|EV:0100111 hp.json gonad of female organism reproductive system|animal ovary|female organism genitalia gonada|female gonad|reproductive system of female organism gonad|gonada of female organism genitalia|female organism reproductive system gonad|gonad of female organism genitalia|gonad of female reproductive system|ovaries|ovum-producing ovary|gonad of genitalia of female organism|gonada of female reproductive system|gonada of genitalia of female organism|ovarium|female organism reproductive system gonada|ovarium|reproductive system of female organism gonada|female organism genitalia gonad|gonad of reproductive system of female organism|gonada of reproductive system of female organism|genitalia of female organism gonada|female reproductive system gonada|female reproductive system gonad|gonada of female organism reproductive system|genitalia of female organism gonad http://purl.obolibrary.org/obo/UBERON_0000992 efo_slim|human_reference_atlas|uberon_slim|vertebrate_core|organ_slim|pheno_slim HP:0009511 biolink:PhenotypicFeature Stippling of the epiphysis of the distal phalanx of the 2nd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger. UMLS:C4024320 hp.json Speckled calcifications in end part of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009511 UBERON:0000993 biolink:AnatomicalEntity oviduct A tube or collection of tubes in an animal from the ovaries to the outside of the body. TAO:0000560|MIAA:0000126|XAO:0003052|BTO:0000980|VHOG:0001136|NCIT:C77957|Wikipedia:Oviduct|BSA:0000083|EMAPA:18984|GAID:366|MAT:0000126|AAO:0010533|ZFA:0000560|EFO:0000974|MESH:D010057|UMLS:C0029954 hp.json oviducts|tubular parts of female reproductive system|tubular parts of female reproductive system|female reproductive tracts|uterine tube|female reproductive tracts|tuba uterinae|ovarian tube|ovarian tube|ovarian duct|tuba uterina|ovarian duct http://purl.obolibrary.org/obo/UBERON_0000993 efo_slim|uberon_slim|vertebrate_core HP:0009510 biolink:PhenotypicFeature Small epiphysis of the distal phalanx of the 2nd finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. UMLS:C4024321 hp.json Small end part of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009510 HP:0009513 biolink:PhenotypicFeature Absent epiphysis of the middle phalanx of the 2nd finger UMLS:C4021459 hp.json Missing end part of the middle long bone of the index finger|Absent epiphyses of middle phalanx of index finger http://purl.obolibrary.org/obo/HP_0009513 UBERON:0000995 biolink:AnatomicalEntity uterus The female muscular organ of gestation in which the developing embryo or fetus is nourished until birth. BTO:0001424|MIAA:0000127|OpenCyc:Mx4rvViojJwpEbGdrcN5Y29ycA|GAID:172|EMAPA:29915|VHOG:0001137|UMLS:C0042149|SCTID:181452004|FMA:17558|CALOHA:TS-1102|NCIT:C12405|MA:0000389|Wikipedia:Uterus|MAT:0000127|EFO:0000975|EV:0100113|MESH:D014599|galen:Uterus hp.json http://purl.obolibrary.org/obo/UBERON_0000995 pheno_slim|human_reference_atlas|efo_slim|uberon_slim|organ_slim HP:0009512 biolink:PhenotypicFeature Triangular epiphysis of the distal phalanx of the 2nd finger A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4024319 hp.json Triangular end part of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009512 UBERON:0000990 biolink:AnatomicalEntity reproductive system Anatomical system that has as its parts the organs concerned with reproduction. EFO:0000809|FMA:7160|SCTID:278875001|FBbt:00004857|MA:0000326|HAO:0000895|ZFA:0000632|Wikipedia:Reproductive_system|OpenCyc:Mx4rvVja4ZwpEbGdrcN5Y29ycA|EHDAA2:0001603|UMLS:C1261210|EHDAA:5923|TAO:0000632|BTO:0000081|HAO:0000374|GAID:363|XAO:0000142|NCIT:C12841|AAO:0010258|VHOG:0000182|MIAA:0000305|WBbt:0005747|CALOHA:TS-1318|EV:0100100|BILA:0000103|EMAPA:17381 hp.json genital tract|systemata genitalia|systemata genitalia|genital system|genitalia|animal reproductive system|organa genitalia|reproductive tract|Geschlechtsorgan|reproductive tissue http://purl.obolibrary.org/obo/UBERON_0000990 efo_slim|uberon_slim|vertebrate_core|functional_classification|pheno_slim UBERON:0000991 biolink:AnatomicalEntity gonad Reproductive organ that produces and releases eggs (ovary) or sperm (testis). FMA:18250|Wikipedia:Gonad|BILA:0000123|FBbt:00004858|VHOG:0000397|ZFA:0000413|MESH:D006066|HAO:0000379|NCIT:C12725|GAID:368|UMLS:C0018067|TAO:0000413|WBbt:0005175|SCTID:304623008|XAO:0003146|OpenCyc:Mx4rwQvdiZwpEbGdrcN5Y29ycA|MA:0002420|AAO:0000213|BTO:0000534|EMAPA:17383|BSA:0000079 hp.json gonads|gonada http://purl.obolibrary.org/obo/UBERON_0000991 uberon_slim|vertebrate_core|major_organ|organ_slim|pheno_slim CHEBI:62081 biolink:ChemicalSubstance 1,1-diunsubstituted alkanesulfonate An alkanesulfonate in which the carbon at position 1 is attached to at least two hydrogens. MetaCyc:Alkanesulfonates|KEGG:C15521 hp.json 1,1-di-unsubstituted alkanesulfonates|1,1-diunsubstituted alkanesulfonates|1,1-di-unsubstituted alkanesulfonate http://purl.obolibrary.org/obo/CHEBI_62081 3_STAR CL:0000006 biolink:Cell neuronal receptor cell hp.json neuronal receptor cell (sensu Animalia) http://purl.obolibrary.org/obo/CL_0000006 CL:0000007 biolink:Cell early embryonic cell (metazoa) A cell found in the embryo before the formation of all the gem layers is complete. hp.json http://purl.obolibrary.org/obo/CL_0000007 CL:0000008 biolink:Cell migratory cranial neural crest cell Cell that is part of the migratory cranial neural crest population. Migratory cranial neural crest cells develop from premigratory cranial neural crest cells and have undergone epithelial to mesenchymal transition and delamination. hp.json http://purl.obolibrary.org/obo/CL_0000008 CL:0000000 biolink:Cell cell A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. KUPO:0000002|GO:0005623|CALOHA:TS-2035|XAO:0003012|FMA:68646|WBbt:0004017|VHOG:0001533 hp.json http://purl.obolibrary.org/obo/CL_0000000 _upper_level CL:0002663 biolink:Cell myocardial endocrine cell of atrium A myocardial endocrine cell that is part of the atrium. FMA:83389 hp.json http://purl.obolibrary.org/obo/CL_0002663 CL:0002664 biolink:Cell cardioblast A stem cell that can give rise to multiple cell types (i.e. smooth muscle, endothelial) in the developing heart. hp.json cardiovascular progenitor cell|CPC http://purl.obolibrary.org/obo/CL_0002664 CL:0000003 biolink:Cell native cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). CARO:0000013 hp.json cell in vivo http://purl.obolibrary.org/obo/CL_0000003 _upper_level CL:0000005 biolink:Cell fibroblast neural crest derived Any fibroblast that is deriived from the neural crest. hp.json http://purl.obolibrary.org/obo/CL_0000005 CL:0000017 biolink:Cell spermatocyte A male germ cell that develops from spermatogonia. The euploid primary spermatocytes undergo meiosis and give rise to the haploid secondary spermatocytes which in turn give rise to spermatids. FBbt:00004936|WBbt:0006799|CALOHA:TS-0951|BTO:0001275|EMAPA:31484|FMA:84049 hp.json http://purl.obolibrary.org/obo/CL_0000017 CHEBI:49096 biolink:ChemicalSubstance 3-aminoisobutyrate A beta-amino acid anion that is the conjugate base of 3-aminoisobutyric acid, arising from deprotonation of the carboxy group. PMID:17190852 hp.json beta-aminoisobutyrate|3-amino-2-methylpropanoate http://purl.obolibrary.org/obo/CHEBI_49096 3_STAR CL:0000018 biolink:Cell spermatid A male germ cell that develops from the haploid secondary spermatocytes. Without further division, spermatids undergo structural changes and give rise to spermatozoa. WBbt:0006800|EMAPA:31486|CALOHA:TS-0950|FMA:72294|BTO:0001274|FBbt:00004942 hp.json nematoblast http://purl.obolibrary.org/obo/CL_0000018 CL:0000019 biolink:Cell sperm A mature male germ cell that develops from a spermatid. BTO:0001277|WBbt:0006798|BTO:0002046|FBbt:00004954|CALOHA:TS-0949|FMA:67338 hp.json sperm cell|spermatozoon|spermatozoid http://purl.obolibrary.org/obo/CL_0000019 CL:0002672 biolink:Cell retinal progenitor cell A multi-fate stem cell that can give rise to different retinal cell types including rod and cone cells. hp.json http://purl.obolibrary.org/obo/CL_0002672 CL:0000011 biolink:Cell migratory trunk neural crest cell Cell that is part of the migratory trunk neural crest population. Migratory trunk neural crest cells develop from premigratory trunk neural crest cells and have undergone epithelial to mesenchymal transition and delamination. hp.json http://purl.obolibrary.org/obo/CL_0000011 CL:0002673 biolink:Cell tongue muscle cell A skeletal muscle cell that is part of the tongue. hp.json http://purl.obolibrary.org/obo/CL_0002673 CL:0002676 biolink:Cell neural crest derived neuroblast A neuroblast derived from a neural crest cell. hp.json http://purl.obolibrary.org/obo/CL_0002676 CL:0000014 biolink:Cell germ line stem cell hp.json germline stem cell http://purl.obolibrary.org/obo/CL_0000014 CL:0000015 biolink:Cell male germ cell Male germ cell is a germ cell that supports male gamete production. ncithesaurus:Spermatogenic_Cell|VHOG:0001531|FMA:72290|MA:0002765 hp.json http://purl.obolibrary.org/obo/CL_0000015 CHEBI:49095 biolink:ChemicalSubstance beta-amino-acid anion hp.json http://purl.obolibrary.org/obo/CHEBI_49095 1_STAR UBERON:4000115 biolink:AnatomicalEntity mineralized bone tissue Bone tissue mineralized with hydroxyapatite. hp.json http://purl.obolibrary.org/obo/UBERON_4000115 CL:0002658 biolink:Cell glandular cell of the large intestine A glandular epithelial cell of the large intestine. FMA:87194 hp.json http://purl.obolibrary.org/obo/CL_0002658 CL:0002657 biolink:Cell glandular cell of esophagus A glandular epithelial cell of the esophagus. FMA:86548 hp.json http://purl.obolibrary.org/obo/CL_0002657 CL:0002659 biolink:Cell glandular cell of stomach A glandular epithelial cell that is part of the stomach. FMA:86554|CALOHA:TS-1284 hp.json http://purl.obolibrary.org/obo/CL_0002659 CL:0002656 biolink:Cell glandular cell of endometrium A glandular epithelial cell of the endometrium. FMA:86489 hp.json http://purl.obolibrary.org/obo/CL_0002656 CHEBI:8386 biolink:ChemicalSubstance pregnane Wikipedia:Pregnane|LIPID_MAPS_instance:LMST02030000 hp.json pregnane http://purl.obolibrary.org/obo/CHEBI_8386 3_STAR CL:0002625 biolink:Cell seminiferous tubule epithelial cell A cell of the seminiferous tubule epithelium. hp.json http://purl.obolibrary.org/obo/CL_0002625 CHEBI:25094 biolink:ChemicalSubstance lysine A diamino acid that is caproic (hexanoic) acid bearing two amino substituents at positions 2 and 6. KEGG:C16440|CAS:70-54-2|PMID:22264337|CAS:70-54-2|Gmelin:279284|Reaxys:1616991|Beilstein:1616991|Wikipedia:Lysine|PMID:17439666 hp.json alpha,epsilon-diaminocaproic acid|Lysin|K|lysine|LYS|2,6-diaminohexanoic acid http://purl.obolibrary.org/obo/CHEBI_25094 3_STAR CL:0002620 biolink:Cell skin fibroblast A fibroblast of skin. CALOHA:TS-0935|BTO:0001255 hp.json http://purl.obolibrary.org/obo/CL_0002620 CHEBI:50047 biolink:ChemicalSubstance organic amino compound A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. hp.json organic amino compounds http://purl.obolibrary.org/obo/CHEBI_50047 3_STAR GO:1904528 biolink:BiologicalProcess positive regulation of microtubule binding Any process that activates or increases the frequency, rate or extent of microtubule binding. hp.json up-regulation of microtubule severing activity|upregulation of microtubule/chromatin interaction|activation of microtubule/chromatin interaction|up regulation of microtubule severing activity|up-regulation of microtubule binding|positive regulation of microtubule severing activity|up regulation of microtubule binding|up-regulation of microtubule/chromatin interaction|upregulation of microtubule severing activity|activation of microtubule binding|activation of microtubule severing activity|up regulation of microtubule/chromatin interaction|upregulation of microtubule binding|positive regulation of microtubule/chromatin interaction http://purl.obolibrary.org/obo/GO_1904528 GO:1904527 biolink:BiologicalProcess negative regulation of microtubule binding Any process that stops, prevents or reduces the frequency, rate or extent of microtubule binding. hp.json downregulation of microtubule severing activity|down regulation of microtubule binding|down-regulation of microtubule/chromatin interaction|negative regulation of microtubule/chromatin interaction|inhibition of microtubule binding|down regulation of microtubule/chromatin interaction|downregulation of microtubule binding|inhibition of microtubule severing activity|downregulation of microtubule/chromatin interaction|negative regulation of microtubule severing activity|down-regulation of microtubule severing activity|down regulation of microtubule severing activity|down-regulation of microtubule binding|inhibition of microtubule/chromatin interaction http://purl.obolibrary.org/obo/GO_1904527 GO:1904526 biolink:BiologicalProcess regulation of microtubule binding Any process that modulates the frequency, rate or extent of microtubule binding. hp.json regulation of microtubule/chromatin interaction|regulation of microtubule severing activity http://purl.obolibrary.org/obo/GO_1904526 NCBITaxon:2611352 biolink:OrganismalEntity Discoba GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_2611352 CL:0002637 biolink:Cell keratinized epithelial cell of the anal canal An epithelial cell of the anal canal that is keratinized. This cell type is found towards the lower, rectal end of the anal canal. hp.json http://purl.obolibrary.org/obo/CL_0002637 CL:0002632 biolink:Cell epithelial cell of lower respiratory tract hp.json http://purl.obolibrary.org/obo/CL_0002632 CL:0002634 biolink:Cell epithelial cell of anal column An epithelial cell of the anal column. hp.json http://purl.obolibrary.org/obo/CL_0002634 GO:0015980 biolink:NamedThing energy derivation by oxidation of organic compounds hp.json http://purl.obolibrary.org/obo/GO_0015980 CL:0002607 biolink:Cell migratory enteric neural crest cell A neural crest cell that gives rise to cells of the enteric nervous system. hp.json http://purl.obolibrary.org/obo/CL_0002607 CL:0002601 biolink:Cell uterine smooth muscle cell A smooth muscle cell of the uterus. hp.json http://purl.obolibrary.org/obo/CL_0002601 CHEBI:37054 biolink:ChemicalSubstance 3-hydroxybutyrate A hydroxy fatty acid anion that is the conjugate base of 3-hydroxybutyric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3. Reaxys:4127635|Beilstein:4127635 hp.json 3-hydroxybutanoate|DL-3-hydroxybutyrate|3-OH butyrate|3-OH-butyrate|beta-hydroxy-n-butyrate|beta-hydroxybutanoate|3-hydroxybutanoate http://purl.obolibrary.org/obo/CHEBI_37054 3_STAR CL:0002610 biolink:Cell raphe nuclei neuron A neuron of the raphe nuclei. hp.json http://purl.obolibrary.org/obo/CL_0002610 CL:0002612 biolink:Cell neuron of the ventral spinal cord A neuron of the ventral spinal cord. hp.json http://purl.obolibrary.org/obo/CL_0002612 CL:0000080 biolink:Cell circulating cell A cell which moves among different tissues of the body, via blood, lymph, or other medium. hp.json http://purl.obolibrary.org/obo/CL_0000080 CL:0000081 biolink:Cell blood cell A cell found predominately in the blood. FMA:62844 hp.json http://purl.obolibrary.org/obo/CL_0000081 CL:0000082 biolink:Cell epithelial cell of lung An epithelial cell of the lung. BTO:0004299 hp.json lung epithelial cell http://purl.obolibrary.org/obo/CL_0000082 CL:0000083 biolink:Cell epithelial cell of pancreas An epithelial cell of the pancreas. BTO:0000028 hp.json pancreas epithelial cell|pancreatic epithelial cell http://purl.obolibrary.org/obo/CL_0000083 CL:0000084 biolink:Cell T cell A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. FMA:62870|VHOG:0001479|BTO:0000782|CALOHA:TS-1001 hp.json T-lymphocyte|mature T cell|immature T cell|T-cell|T lymphocyte http://purl.obolibrary.org/obo/CL_0000084 CL:0000097 biolink:Cell mast cell A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. FMA:66784|BTO:0000830|CALOHA:TS-0603 hp.json histaminocyte|mastocyte|labrocyte|tissue basophil http://purl.obolibrary.org/obo/CL_0000097 CL:0000098 biolink:Cell sensory epithelial cell A specialized epithelial cell involved in sensory perception. Restricted to special sense organs of the olfactory, gustatory, and vestibulocochlear receptor systems; contain sensory cells surrounded by supportive, non-receptive cells. BTO:0004301 hp.json neuroepithelial cell http://purl.obolibrary.org/obo/CL_0000098 CL:0000099 biolink:Cell interneuron Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions. FMA:67313|WBbt:0005113|FBbt:00005125|BTO:0003811 hp.json http://purl.obolibrary.org/obo/CL_0000099 CL:1000042 biolink:Cell forebrain neuroblast hp.json http://purl.obolibrary.org/obo/CL_1000042 CL:0000092 biolink:Cell osteoclast A specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. This cell has the following markers: tartrate-resistant acid phosphatase type 5-positive, PU.1-positive, c-fos-positive, nuclear factor NF-kappa-B p100 subunit-positive, tumor necrosis factor receptor superfamily member 11A-positive and macrophage colony-stimulating factor 1 receptor-positive. FMA:66781|BTO:0000968|CALOHA:TS-0721 hp.json chondroclast http://purl.obolibrary.org/obo/CL_0000092 CHEBI:76655 biolink:ChemicalSubstance EC 2.1.* (C1-transferase) inhibitor A transferase inhibitor inhibiting the action of transferase of a one-carbon-containing group (EC 2.1.*.*). hp.json C1-transferase inhibitor|C1-transferase (EC 2.1.*) inhibitor|C1-transferase (EC 2.1.*) inhibitors|C1-transferase inhibitors|EC 2.1.* (C1-transferase) inhibitors|one-carbon-containing group transferase inhibitors|EC 2.1.* inhibitors|EC 2.1.* inhibitor|one-carbon-containing group transferase inhibitor http://purl.obolibrary.org/obo/CHEBI_76655 3_STAR CL:0000094 biolink:Cell granulocyte A leukocyte with abundant granules in the cytoplasm. CALOHA:TS-0422|BTO:0000539|FMA:62854|BTO:0001026 hp.json granular leucocyte|polymorphonuclear leukocyte|granular leukocyte http://purl.obolibrary.org/obo/CL_0000094 CL:0000095 biolink:Cell neuron associated cell hp.json http://purl.obolibrary.org/obo/CL_0000095 CHEBI:15705 biolink:ChemicalSubstance L-alpha-amino acid Any alpha-amino acid having L-configuration at the alpha-carbon. KEGG:C00151 hp.json L-Amino acid|L-alpha-amino acids|L-alpha-amino acid|L-alpha-amino acids|L-2-Amino acid http://purl.obolibrary.org/obo/CHEBI_15705 3_STAR CL:0000064 biolink:Cell ciliated cell A cell that has a filiform extrusion of the cell surface. XAO:0000031|VHOG:0001532 hp.json http://purl.obolibrary.org/obo/CL_0000064 CL:0000066 biolink:Cell epithelial cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. BTO:0000414|FMA:66768|WBbt:0003672|CARO:0000077|CALOHA:TS-2026|FBbt:00000124 hp.json epitheliocyte http://purl.obolibrary.org/obo/CL_0000066 CL:0000067 biolink:Cell ciliated epithelial cell An epithelial cell that has a cilia. FMA:70605 hp.json http://purl.obolibrary.org/obo/CL_0000067 CL:0000068 biolink:Cell duct epithelial cell An epithelial cell that is part of a duct. hp.json http://purl.obolibrary.org/obo/CL_0000068 CL:0000069 biolink:Cell branched duct epithelial cell hp.json http://purl.obolibrary.org/obo/CL_0000069 CL:0000060 biolink:Cell odontoblast Skeletogenic cell that secretes dentine matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell. CALOHA:TS-0696|FMA:62999|BTO:0001769 hp.json http://purl.obolibrary.org/obo/CL_0000060 HP:0010492 biolink:PhenotypicFeature Osseous finger syndactyly Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". SNOMEDCT_US:2560006|UMLS:C0158736 hp.json Osseous syndactyly of the fingers http://purl.obolibrary.org/obo/HP_0010492 hposlim_core HP:0010491 biolink:PhenotypicFeature Digital constriction ring A narrow segment of significantly reduced circumference of a digit. UMLS:C4021261 hp.json Amniotic constriction rings of digits http://purl.obolibrary.org/obo/HP_0010491 hposlim_core HP:0010490 biolink:PhenotypicFeature Abnormality of the palmar creases An abnormality of the creases of the skin of palm of hand. SNOMEDCT_US:205557000|UMLS:C0221199 hp.json Abnormality of the palm lines http://purl.obolibrary.org/obo/HP_0010490 hposlim_core CHEBI:62031 biolink:ChemicalSubstance polar amino acid zwitterion Zwitterionic form of a polar amino acid having an anionic carboxy group and a protonated amino group. MetaCyc:Polar-amino-acids hp.json a polar amino acid http://purl.obolibrary.org/obo/CHEBI_62031 2_STAR HP:0010499 biolink:PhenotypicFeature Patellar subluxation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. UMLS:C0857276 hp.json Partial knee cap dislocation|Subluxation of patella http://purl.obolibrary.org/obo/HP_0010499 HP:0010498 biolink:PhenotypicFeature Bipartite patella A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood. UMLS:C0265666|SNOMEDCT_US:79214007 hp.json http://purl.obolibrary.org/obo/HP_0010498 hposlim_core HP:0010497 biolink:PhenotypicFeature Sirenomelia A developmental defect in which the legs are fused together. UMLS:C0037205|MEDDRA:10049216|SNOMEDCT_US:67254002|SNOMEDCT_US:91089008|MSH:D004480|SNOMEDCT_US:253191000 hp.json Sympodia http://purl.obolibrary.org/obo/HP_0010497 hposlim_core HP:0010496 biolink:PhenotypicFeature Hypertrophy of the lower limb Abnormal increase in size of the lower limbs (due to an increase of the size of cells). UMLS:C4023803 hp.json http://purl.obolibrary.org/obo/HP_0010496 HP:0010495 biolink:PhenotypicFeature Amniotic constriction rings of legs Amniotic constriction rings affecting the legs. UMLS:C4023804 hp.json http://purl.obolibrary.org/obo/HP_0010495 HP:0010494 biolink:PhenotypicFeature Acromelia of the lower limbs Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments. UMLS:C4023805 hp.json http://purl.obolibrary.org/obo/HP_0010494 HP:0010493 biolink:PhenotypicFeature Long metacarpals An abnormally increased length of the metacarpal bones. UMLS:C4021260 hp.json Elongated long bone of hand|Increased length of metacarpals http://purl.obolibrary.org/obo/HP_0010493 hposlim_core CL:0000075 biolink:Cell columnar/cuboidal epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. hp.json http://purl.obolibrary.org/obo/CL_0000075 CL:0000076 biolink:Cell squamous epithelial cell CALOHA:TS-1249 hp.json http://purl.obolibrary.org/obo/CL_0000076 CL:0000077 biolink:Cell mesothelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. FMA:66773 hp.json mesotheliocyte http://purl.obolibrary.org/obo/CL_0000077 CL:0000079 biolink:Cell stratified epithelial cell hp.json http://purl.obolibrary.org/obo/CL_0000079 CL:0000071 biolink:Cell blood vessel endothelial cell An endothelial cell that lines the vasculature. hp.json cuboidal endothelial cell of vascular tree http://purl.obolibrary.org/obo/CL_0000071 CL:0000047 biolink:Cell neuronal stem cell Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors. CALOHA:TS-2360|FMA:86684|BTO:0002881 hp.json NSC|neural stem cell http://purl.obolibrary.org/obo/CL_0000047 CL:0000048 biolink:Cell multi fate stem cell A stem cell that can give rise to multiple lineages of cells. FMA:84789 hp.json multifate stem cell|multi-fate stem cell|multipotent stem cell|multipotent cell http://purl.obolibrary.org/obo/CL_0000048 CL:0000049 biolink:Cell common myeloid progenitor A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. BTO:0004730 hp.json myeloid stem cell|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|common myeloid precursor|CMP|CFU-GEMM|pluripotent stem cell (bone marrow)|CFU-S|multipotential myeloid stem cell http://purl.obolibrary.org/obo/CL_0000049 CL:0000040 biolink:Cell monoblast A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. CALOHA:TS-1195|FMA:83553 hp.json CFU-M|colony forming unit macrophage|colony forming unit monocyte|monocyte stem cell http://purl.obolibrary.org/obo/CL_0000040 CL:0000055 biolink:Cell non-terminally differentiated cell A precursor cell with a limited number of potential fates. BTO:0000125|FMA:84782 hp.json blast cell http://purl.obolibrary.org/obo/CL_0000055 CL:0000056 biolink:Cell myoblast A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. FMA:70335|VHOG:0001529|BTO:0000222|FBbt:00005083|CALOHA:TS-0650 hp.json http://purl.obolibrary.org/obo/CL_0000056 CL:0000057 biolink:Cell fibroblast A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. VHOG:0001482|CALOHA:TS-0362|FMA:63877|BTO:0000452 hp.json http://purl.obolibrary.org/obo/CL_0000057 CL:0000058 biolink:Cell chondroblast Skeletogenic cell that is typically non-terminally differentiated, secretes an avascular, GAG rich matrix; is not buried in cartilage tissue matrix, retains the ability to divide, located adjacent to cartilage tissue (including within the perichondrium), and develops from prechondroblast (and thus prechondrogenic) cell. BTO:0003607|FMA:66783 hp.json chrondoplast http://purl.obolibrary.org/obo/CL_0000058 CL:0000059 biolink:Cell ameloblast Skeletogenic cell that produces enamel, overlies the odontogenic papilla, and arises from the differentiation of a preameloblast cell. FMA:70576|BTO:0001663 hp.json enamel secreting cell|amelocyte http://purl.obolibrary.org/obo/CL_0000059 CL:0000050 biolink:Cell megakaryocyte-erythroid progenitor cell A progenitor cell committed to the megakaryocyte and erythroid lineages. hp.json colony forming unit erythroid megakaryocyte|MEP|megakaryocyte/erythrocyte progenitor|CFU-EM|megakaryocyte/erythroid progenitor cell|CFU-MegE|Meg/E progenitor http://purl.obolibrary.org/obo/CL_0000050 CL:0000051 biolink:Cell common lymphoid progenitor A oligopotent progenitor cell committed to the lymphoid lineage. hp.json common lymphocyte precursor|lymphoid stem cell|CLP|ELP|early lymphocyte progenitor|lymphopoietic stem cell|common lymphoid precursor|common lymphocyte progenitor|committed lymphopoietic stem cell http://purl.obolibrary.org/obo/CL_0000051 CL:0000052 biolink:Cell totipotent stem cell A stem cell from which all cells of the body can form. FMA:84790 hp.json totipotential stem cell http://purl.obolibrary.org/obo/CL_0000052 CL:0000029 biolink:Cell neural crest derived neuron hp.json neuron neural crest derived http://purl.obolibrary.org/obo/CL_0000029 CL:0000020 biolink:Cell spermatogonium An euploid male germ cell of an early stage of spermatogenesis. BTO:0000958|FMA:72291|CALOHA:TS-2193|FBbt:00004935|EMAPA:31482 hp.json spermatogonial cell http://purl.obolibrary.org/obo/CL_0000020 CL:0000021 biolink:Cell female germ cell Female germ cell is a germ cell that supports female gamete production. MA:0000388|VHOG:0001530|ncithesaurus:Egg hp.json http://purl.obolibrary.org/obo/CL_0000021 CL:0000022 biolink:Cell female germ line stem cell hp.json http://purl.obolibrary.org/obo/CL_0000022 CL:0000023 biolink:Cell oocyte A female germ cell that has entered meiosis. FMA:18644|FBbt:00004886|BTO:0000964|CALOHA:TS-0711|WBbt:0006797 hp.json oogonium http://purl.obolibrary.org/obo/CL_0000023 CL:0000024 biolink:Cell oogonial cell An undifferentiated germ cell that proliferates rapidly and gives rise to oocytes. FMA:83673 hp.json http://purl.obolibrary.org/obo/CL_0000024 CL:0000025 biolink:Cell egg cell A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization. FMA:67343|MA:0000388|FBbt:00057012|BTO:0000369|BTO:0003801|CALOHA:TS-2191 hp.json ovum|mature oocyte http://purl.obolibrary.org/obo/CL_0000025 CL:0000027 biolink:Cell smooth muscle cell neural crest derived A smooth muscle cell derived from the neural crest. hp.json http://purl.obolibrary.org/obo/CL_0000027 CL:0002680 biolink:Cell PP cell of intestine A PP cell found in intestine. hp.json http://purl.obolibrary.org/obo/CL_0002680 CL:0000039 biolink:Cell germ line cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. hp.json http://purl.obolibrary.org/obo/CL_0000039 _upper_level CL:0012001 biolink:Cell neuron of the forebrain A CNS neuron of the forebrain. hp.json forebrain neuron http://purl.obolibrary.org/obo/CL_0012001 CL:0000031 biolink:Cell neuroblast (sensu Vertebrata) A cell that will develop into a neuron often after a migration phase. FMA:70563|BTO:0000930 hp.json neuroblast http://purl.obolibrary.org/obo/CL_0000031 CL:0000034 biolink:Cell stem cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. CALOHA:TS-2086|FMA:63368 hp.json animal stem cell http://purl.obolibrary.org/obo/CL_0000034 PR:000000001 biolink:Protein protein An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA, and any derivatives thereof. hp.json natural protein|native protein http://purl.obolibrary.org/obo/PR_000000001 CL:0000035 biolink:Cell single fate stem cell A stem cell that self-renews as well as give rise to a single mature cell type. FMA:70569 hp.json unipotent stem cell|unipotential stem cell http://purl.obolibrary.org/obo/CL_0000035 CL:0000036 biolink:Cell epithelial fate stem cell hp.json epithelial stem cell http://purl.obolibrary.org/obo/CL_0000036 CL:0000037 biolink:Cell hematopoietic stem cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. VHOG:0001485|FMA:70337|BTO:0000725|CALOHA:TS-0448|FMA:86475 hp.json blood forming stem cell|colony forming unit hematopoietic|hemopoietic stem cell|HSC http://purl.obolibrary.org/obo/CL_0000037 CL:0000038 biolink:Cell erythroid progenitor cell A progenitor cell committed to the erythroid lineage. BTO:0004911 hp.json blast forming unit erythroid|colony forming unit erythroid|erythroid stem cell|burst forming unit erythroid|CFU-E|BFU-E http://purl.obolibrary.org/obo/CL_0000038 CL:0000030 biolink:Cell glioblast FBbt:00005145 hp.json http://purl.obolibrary.org/obo/CL_0000030 HP:0012860 biolink:PhenotypicFeature Testicular fibrosis Formation of excess connective tissue in the testicle. UMLS:C4021061 hp.json Fibrotic testicle|Fibrotic testes http://purl.obolibrary.org/obo/HP_0012860 CHEBI:27638 biolink:ChemicalSubstance cobalt atom A cobalt group element atom that has atomic number 27. KEGG:C19171|CAS:7440-48-4|KEGG:C00175|WebElements:Co|CAS:7440-48-4|PDBeChem:3CO|CAS:7440-48-4 hp.json cobaltum|Cobalt|cobalt|cobalt|Kobalt|27Co|Co|Co|cobalto http://purl.obolibrary.org/obo/CHEBI_27638 3_STAR HP:0012861 biolink:PhenotypicFeature Ovotestis A gonad that contains both ovarian follicles and testicular tubular elements. MSH:D050090|SNOMEDCT_US:18978002|UMLS:C0266361 hp.json http://purl.obolibrary.org/obo/HP_0012861 GO:1990874 biolink:BiologicalProcess vascular associated smooth muscle cell proliferation The multiplication or reproduction of vascular smooth muscle cells, resulting in the expansion of a cell population. A vascular smooth muscle cell is a non-striated, elongated, spindle-shaped cell found lining the blood vessels. hp.json vascular smooth muscle cell proliferation|VSMC proliferation http://purl.obolibrary.org/obo/GO_1990874 HP:0012862 biolink:PhenotypicFeature Abnormal germ cell morphology Any structural anomaly of a reproductive cell. UMLS:C4022704 hp.json Abnormally shaped reproductive cell|Abnormally shaped germ cell|Abnormal shape of a reproductive cell http://purl.obolibrary.org/obo/HP_0012862 HP:0012863 biolink:PhenotypicFeature Abnormal male germ cell morphology A structural anomaly of a male reproductive cell. UMLS:C4022703 hp.json http://purl.obolibrary.org/obo/HP_0012863 HP:0012864 biolink:PhenotypicFeature Abnormal sperm morphology A structural anomaly of sperm. SNOMEDCT_US:236817003|UMLS:C0403824|MSH:D000072660 hp.json Teratospermia|Teratozoospermia|Abnormal shape of sperm http://purl.obolibrary.org/obo/HP_0012864 UBERON:0009030 biolink:AnatomicalEntity left pulmonary vein Vein that drains left lung and returns blood to the heart. UMLS:C0226670|EMAPA:37165|MA:0002207|SCTID:304057004|NCIT:C48946 hp.json http://purl.obolibrary.org/obo/UBERON_0009030 HP:0012865 biolink:PhenotypicFeature Abnormal sperm head morphology A structural abnormality of the sperm head. UMLS:C4022702 hp.json Sperm head anomaly http://purl.obolibrary.org/obo/HP_0012865 HP:0010203 biolink:PhenotypicFeature Aplasia/hypoplasia of proximal toe phalanx Absence (agenesis) or underdevelopment of the proximal phalanx of the toe. UMLS:C4021317 hp.json Absent/underdeveloped innermost toe bones|Aplasia/Hypoplasia of the proximal phalanges of the toes|Absent/small innermost toe bones http://purl.obolibrary.org/obo/HP_0010203 HP:0000877 biolink:PhenotypicFeature Insulin-resistant diabetes mellitus at puberty UMLS:C1837792 hp.json Insulin-resistant diabetes mellitus at puberty http://purl.obolibrary.org/obo/HP_0000877 HP:0000876 biolink:PhenotypicFeature Oligomenorrhea Infrequent menses (less than 6 per year or more than 35 days between cycles). MSH:D009839|UMLS:C0028949|SNOMEDCT_US:52073004 hp.json Light or infrequent menstrual periods http://purl.obolibrary.org/obo/HP_0000876 HP:0010202 biolink:PhenotypicFeature Duplication of middle phalanx of toe Partial or complete duplication of a middle phalanx of toe. UMLS:C4021318 hp.json Partial/complete duplication of the middle bones of the toes|Partial/complete duplication of the middle phalanges of the toes http://purl.obolibrary.org/obo/HP_0010202 HP:0000879 biolink:PhenotypicFeature Short sternum Decreased inferosuperior length of the sternum. SNOMEDCT_US:298724002|UMLS:C4020883|UMLS:C0575497 hp.json Hypoplastic sternum|Short sternum http://purl.obolibrary.org/obo/HP_0000879 hposlim_core HP:0010201 biolink:PhenotypicFeature Triangular shaped middle phalanges of the toes UMLS:C4023972 hp.json Triangular shaped middle bones of toes http://purl.obolibrary.org/obo/HP_0010201 UBERON:0010020 biolink:AnatomicalEntity tubotympanic recess epithelium The dorsal portion of the embryonic first endodermal pharyngeal pouch; it develops into the middle ear cavity. EHDAA2:0004115|EHDAA:6772|MA:0001218|NCIT:C34318|VHOG:0001297|EMAPA:17002|UMLS:C1284046|FMA:312393 hp.json tubotympanic recess http://purl.obolibrary.org/obo/UBERON_0010020 HP:0000878 biolink:PhenotypicFeature 11 pairs of ribs Presence of only 11 pairs of ribs. UMLS:C1839731 hp.json 11 pairs of ribs http://purl.obolibrary.org/obo/HP_0000878 hposlim_core HP:0010200 biolink:PhenotypicFeature Symphalangism affecting the middle phalanges of the toes UMLS:C4023973 hp.json Fused middle bones of toes http://purl.obolibrary.org/obo/HP_0010200 UBERON:0010025 biolink:AnatomicalEntity dorsal part of pharyngeal pouch 3 EMAPA:16758|EHDAA2:0000409 hp.json cranial dorsal aspect of third dorsal pharyngeal pouch|dorsal 3rd branchial pouch|dorsal wing of pharyngeal pouch 3|dorsal 3rd arch pharyngeal pouch endoderm|dorsal branchial pouch 3 endoderm|dorsal pharyngeal pouch 3|dorsal pharyngeal pouch 3 endoderm http://purl.obolibrary.org/obo/UBERON_0010025 UBERON:0036655 biolink:AnatomicalEntity wall of cerebral aqueduct FMA:242774 hp.json http://purl.obolibrary.org/obo/UBERON_0036655 UBERON:0010026 biolink:AnatomicalEntity ventral part of pharyngeal pouch 3 EMAPA:16759|EHDAA2:0002173 hp.json caudal ventral aspect of third dorsal pharyngeal pouch|ventral pharyngeal pouch 3|ventral 3rd branchial pouch|ventral 3rd arch pharyngeal pouch endoderm|ventral wing of pharyngeal pouch 3|ventral branchial pouch 3 endoderm|ventral pharyngeal pouch 3 endoderm http://purl.obolibrary.org/obo/UBERON_0010026 UBERON:0036654 biolink:AnatomicalEntity wall of lateral ventricle FMA:242772 hp.json http://purl.obolibrary.org/obo/UBERON_0036654 UBERON:0036657 biolink:AnatomicalEntity wall of fourth ventricle FMA:242778 hp.json http://purl.obolibrary.org/obo/UBERON_0036657 UBERON:0036656 biolink:AnatomicalEntity wall of third ventricle FMA:242776 hp.json http://purl.obolibrary.org/obo/UBERON_0036656 HP:0000871 biolink:PhenotypicFeature Panhypopituitarism A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). MSH:C580003|SNOMEDCT_US:32390006|UMLS:C0242343 hp.json http://purl.obolibrary.org/obo/HP_0000871 HP:0010209 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanges of the toes UMLS:C4023970 hp.json Fused innermost bones of toes http://purl.obolibrary.org/obo/HP_0010209 HP:0000870 biolink:PhenotypicFeature Increased circulating prolactin concentration The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. UMLS:C0020514|MSH:D006966|SNOMEDCT_US:237662005 hp.json Prolactin excess|Hyperprolactinemia|Hyperprolactinaemia http://purl.obolibrary.org/obo/HP_0000870 HP:0010208 biolink:PhenotypicFeature Patchy sclerosis of proximal toe phalanx Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4021313 hp.json Patchy sclerosis of the proximal phalanges of the toes|Uneven increase in bone density in innermost toe bone http://purl.obolibrary.org/obo/HP_0010208 HP:0000873 biolink:PhenotypicFeature Diabetes insipidus A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). UMLS:C0011848|SNOMEDCT_US:15771004|MSH:D003919 hp.json http://purl.obolibrary.org/obo/HP_0000873 HP:0010207 biolink:PhenotypicFeature Osteolytic defect of the proximal toe phalanx Dissolution or degeneration of bone tissue of the proximal toe phalanx. UMLS:C4021314 hp.json Osteolytic defects of the proximal phalanges of the toes http://purl.obolibrary.org/obo/HP_0010207 HP:0009207 biolink:PhenotypicFeature Fragmentation of the epiphysis of the middle phalanx of the 5th finger Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger. UMLS:C4024533 hp.json Fragmentation of end part of the middle bone of the pinky finger|Fragmentation of end part of the middle bone of the pinkie finger|Fragmentation of end part of the middle bone of the little finger http://purl.obolibrary.org/obo/HP_0009207 HP:0000872 biolink:PhenotypicFeature Hashimoto thyroiditis A chronic, autoimmune type of thyroiditis associated with hypothyroidism. SNOMEDCT_US:21983002|MSH:D050031|UMLS:C0677607 hp.json Chronic lymphocytic thyroiditis|Hashimoto's thyroiditis http://purl.obolibrary.org/obo/HP_0000872 HP:0010206 biolink:PhenotypicFeature Curved proximal toe phalanx A deviation from the normal straight shape of a proximal phalanx of one or more toes. UMLS:C4021315 hp.json Curved innermost toe bones|Curved proximal phalanges of the toes http://purl.obolibrary.org/obo/HP_0010206 HP:0009206 biolink:PhenotypicFeature Enlarged epiphysis of the middle phalanx of the 5th finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. UMLS:C4024534 hp.json Enlarged end part of the middle bone of the pinky finger|Enlarged end part of the middle bone of the pinkie finger|Enlarged end part of the middle bone of the little finger http://purl.obolibrary.org/obo/HP_0009206 HP:0010205 biolink:PhenotypicFeature Bullet-shaped proximal toe phalanx An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4021316 hp.json Bullet-shaped proximal phalanges of the toes|Bullet-shaped proximal phalanges of toe|Bullet-shaped innermost toe bone http://purl.obolibrary.org/obo/HP_0010205 HP:0000875 biolink:PhenotypicFeature Episodic hypertension UMLS:C1857175 hp.json Intermittent high blood pressure http://purl.obolibrary.org/obo/HP_0000875 HP:0009209 biolink:PhenotypicFeature Ivory epiphysis of the middle phalanx of the 5th finger Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024531 hp.json Increased bone density of end part of the middle bone of pinkie finger|Increased bone density of end part of the middle bone of little finger|Increased bone density of end part of the middle bone of pinky finger http://purl.obolibrary.org/obo/HP_0009209 HP:0009208 biolink:PhenotypicFeature Irregular epiphysis of the middle phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger. UMLS:C4024532 hp.json Irregular end part of the middle bone of the pinky finger|Irregular end part of the middle bone of the pinkie finger|Irregular end part of the middle bone of the little finger http://purl.obolibrary.org/obo/HP_0009208 HP:0010204 biolink:PhenotypicFeature Broad proximal phalanx of toe An increase in width of one ore more proximal toe phalanges. UMLS:C4023971 hp.json Broad innermost toe bone http://purl.obolibrary.org/obo/HP_0010204 HP:0009203 biolink:PhenotypicFeature Absent epiphysis of the middle phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger. UMLS:C4024537 hp.json Absent end part of the middle bone of the little finger|Absent end part of the middle bone of the pinkie finger|Absent end part of the middle bone of the pinky finger http://purl.obolibrary.org/obo/HP_0009203 HP:0012866 biolink:PhenotypicFeature Abnormal sperm neck morphology A structural abnormality of the sperm neck. UMLS:C4022701 hp.json Sperm neck anomaly http://purl.obolibrary.org/obo/HP_0012866 UBERON:0009032 biolink:AnatomicalEntity right pulmonary vein Vein that drains right lung and returns blood to the heart. EMAPA:37379|UMLS:C0226669|SCTID:304056008|MA:0002208|NCIT:C48947 hp.json http://purl.obolibrary.org/obo/UBERON_0009032 HP:0009202 biolink:PhenotypicFeature Fragmentation of the epiphysis of the proximal phalanx of the 5th finger Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger. UMLS:C4024538 hp.json Fragmentation of end part of the innermost bone of the little finger|Fragmentation of end part of the innermost bone of the pinky finger|Fragmentation of end part of the innermost bone of the pinkie finger http://purl.obolibrary.org/obo/HP_0009202 HP:0012867 biolink:PhenotypicFeature Abnormal sperm mid-piece morphology A structural abnormality of the sperm mid-piece. UMLS:C4022700 hp.json Sperm mid-piece anomaly http://purl.obolibrary.org/obo/HP_0012867 HP:0009205 biolink:PhenotypicFeature Cone-shaped epiphysis of the middle phalanx of the 5th finger A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4024535 hp.json Cone-shaped end part of the middle bone of the pinkie finger|Cone-shaped end part of the middle bone of the little finger|Cone-shaped end part of the middle bone of the pinky finger http://purl.obolibrary.org/obo/HP_0009205 HP:0012868 biolink:PhenotypicFeature Abnormal sperm tail morphology A structural abnormality of the sperm tail. UMLS:C4022699 hp.json Sperm tail anomaly http://purl.obolibrary.org/obo/HP_0012868 HP:0009204 biolink:PhenotypicFeature Bracket epiphysis of the middle phalanx of the 5th finger An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024536 hp.json Bracket shaped end part of the middle bone of the little finger|Bracket shaped end part of the middle bone of the pinky finger|Bracket shaped end part of the middle bone of the pinkie finger http://purl.obolibrary.org/obo/HP_0009204 HP:0012869 biolink:PhenotypicFeature Acephalic spermatozoa Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. UMLS:C4022698 hp.json http://purl.obolibrary.org/obo/HP_0012869 HP:0009201 biolink:PhenotypicFeature Stippling of the epiphysis of the proximal phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger. UMLS:C4024539 hp.json Speckled calcifications in end part of the innnermost bone of the pinky finger|Speckled calcifications in end part of the innnermost bone of the pinkie finger|Speckled calcifications in end part of the innnermost bone of the little finger http://purl.obolibrary.org/obo/HP_0009201 UBERON:0009039 biolink:AnatomicalEntity lymph node germinal center A germinal center that is located in a lymph node. BTO:0003671|NCIT:C49757|EMAPA:35528|CALOHA:TS-1269|MA:0002989 hp.json germinal center|lymph node light zone|lymph node nodule|lymph node activated zone|lymph node central zone http://purl.obolibrary.org/obo/UBERON_0009039 pheno_slim|human_reference_atlas HP:0009200 biolink:PhenotypicFeature Pseudoepiphysis of the proximal phalanx of the 5th finger A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024540 hp.json http://purl.obolibrary.org/obo/HP_0009200 HP:0012850 biolink:PhenotypicFeature Small intestinal dysmotility Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. SNOMEDCT_US:253768006|UMLS:C0345200 hp.json http://purl.obolibrary.org/obo/HP_0012850 HP:0012851 biolink:PhenotypicFeature Colonic stenosis A narrowing of a segment of colon whereby bowel continuity is maintained. SNOMEDCT_US:19132000|UMLS:C0267466|SNOMEDCT_US:8543007 hp.json Stenosis of the colon|Narrowing of the colon http://purl.obolibrary.org/obo/HP_0012851 HP:0012852 biolink:PhenotypicFeature Hepatic bridging fibrosis Hepatic fibrosis that reaches from a portal area to another portal area. UMLS:C4022709 hp.json http://purl.obolibrary.org/obo/HP_0012852 HP:0012853 biolink:PhenotypicFeature Scrotal hypospadias Hypospadias with location of the urethral meatus in the scrotum. SNOMEDCT_US:702462000|UMLS:C2197691 hp.json http://purl.obolibrary.org/obo/HP_0012853 HP:0012854 biolink:PhenotypicFeature Midshaft hypospadias Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis. UMLS:C4022708 hp.json http://purl.obolibrary.org/obo/HP_0012854 HP:0000888 biolink:PhenotypicFeature Horizontal ribs A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. UMLS:C3806510 hp.json Horizontal ribs http://purl.obolibrary.org/obo/HP_0000888 UBERON:0010011 biolink:AnatomicalEntity collection of basal ganglia Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum. DHBA:10331|BAMS:BG|MBA:623|PBA:4001|UMLS:C0004781|MA:0000184|GAID:617|FMA:84013|BM:Tel-BG|EMAPA:32673|VHOG:0001696|HBA:4276|HBA:4275|BIRNLEX:826|NCIT:C12447|PBA:128012596|MESH:D001479 hp.json basal ganglia|set of basal nuclei|set of basal ganglia|basal nuclei (basal ganglia)|cerebral nuclei|basal nuclei|basal ganglia set|subcortical nuclei http://purl.obolibrary.org/obo/UBERON_0010011 pheno_slim|human_reference_atlas HP:0000887 biolink:PhenotypicFeature Cupped ribs Wide, concave rib end. SNOMEDCT_US:249704008|UMLS:C0426826|UMLS:C1865039 hp.json Rib cupping|Cupped ribs|Rib flaring http://purl.obolibrary.org/obo/HP_0000887 hposlim_core UBERON:0036661 biolink:AnatomicalEntity wall of ventricular system of brain FMA:242841 hp.json http://purl.obolibrary.org/obo/UBERON_0036661 HP:0000889 biolink:PhenotypicFeature Abnormal clavicle morphology Any abnormality of the clavicles (collar bones). UMLS:C4021792 hp.json Abnormal collarbone|Abnormality of the clavicle|Abnormal clavicles http://purl.obolibrary.org/obo/HP_0000889 hposlim_core UBERON:0009029 biolink:AnatomicalEntity pudendal vein Either the internal or external pudendal vein, running from the genital-vulvar area and abdomen and down the leg. EMAPA:37184|MA:0002202 hp.json vena pudendae|vena pudendae|vena pudendales|pudic vein http://purl.obolibrary.org/obo/UBERON_0009029 UBERON:0036658 biolink:AnatomicalEntity wall of central canal of spinal cord FMA:242780 hp.json wall of central canal http://purl.obolibrary.org/obo/UBERON_0036658 HP:0000882 biolink:PhenotypicFeature Hypoplastic scapulae Underdeveloped scapula. UMLS:C1846434 hp.json Small scapulae|Small scapula|Scapular hypoplasia|Short scapulae|Small shoulder blade|Hypoplastic scapula http://purl.obolibrary.org/obo/HP_0000882 hposlim_core UBERON:0010005 biolink:AnatomicalEntity placental labyrinth villous The vascularized and branched structures arising from the rodent trophoblast-derived epithelium that allow an increase its surface area for the efficient exchange of nutrients and wastes between the maternal and fetal circulation. hp.json placental labyrinth villi|villous of placental labyrinth http://purl.obolibrary.org/obo/UBERON_0010005 pheno_slim HP:0000884 biolink:PhenotypicFeature Prominent sternum UMLS:C1846433 hp.json Sternal protrusion|Prominent sternum http://purl.obolibrary.org/obo/HP_0000884 HP:0009218 biolink:PhenotypicFeature Fragmentation of the epiphysis of the middle phalanx of the 4th finger Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger. UMLS:C4024523 hp.json Fragmentation of end part of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009218 HP:0000883 biolink:PhenotypicFeature Thin ribs Ribs with a reduced diameter. SNOMEDCT_US:249697003|UMLS:C0426818 hp.json Slender ribs|Thin ribs http://purl.obolibrary.org/obo/HP_0000883 hposlim_core HP:0009217 biolink:PhenotypicFeature Enlarged epiphysis of the middle phalanx of the 4th finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. UMLS:C4024524 hp.json Enlarged end part of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009217 UBERON:0010009 biolink:AnatomicalEntity aggregate regional part of brain A regional part of brain consisting of multiple brain regions that are not related through a simple volummetric part of hierarchy, e.g., basal ganglia[NIF]. FMA:256381|NLXANAT:20090509 hp.json set of nuclei of neuraxis http://purl.obolibrary.org/obo/UBERON_0010009 non_informative HP:0000886 biolink:PhenotypicFeature Deformed rib cage Malformation of the rib cage. UMLS:C1838659 hp.json Deformed rib cage http://purl.obolibrary.org/obo/HP_0000886 HP:0000885 biolink:PhenotypicFeature Broad ribs Increased width of ribs UMLS:C1848654 hp.json Broad ribs|Wide ribs http://purl.obolibrary.org/obo/HP_0000885 hposlim_core HP:0009219 biolink:PhenotypicFeature Irregular epiphysis of the middle phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger. UMLS:C4024522 hp.json Irregular end part of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009219 HP:0012855 biolink:PhenotypicFeature Scrotal hyperpigmentation Increased pigmentation (skin color) of the scrotum. UMLS:C4021062 hp.json Increased pigmentation in scrotum|Hyperpigmentation of the scrotum|Hyperpigmented scrotum http://purl.obolibrary.org/obo/HP_0012855 HP:0009214 biolink:PhenotypicFeature Absent epiphysis of the middle phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger. UMLS:C4024527 hp.json Absent end part of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009214 HP:0012856 biolink:PhenotypicFeature Abnormal scrotal rugation Anomaly of the folded ridges (wrinkles) of skin of the scrotum. UMLS:C4022707 hp.json http://purl.obolibrary.org/obo/HP_0012856 HP:0009213 biolink:PhenotypicFeature Triangular epiphysis of the middle phalanx of the 5th finger A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4021511 hp.json Triangular end part of the middle bone of the pinkie finger|Triangular end part of the middle bone of the little finger|Delta-shaped epiphysis of the middle phalanx of the 5th finger|Triangular end part of the middle bone of the pinky finger http://purl.obolibrary.org/obo/HP_0009213 HP:0012857 biolink:PhenotypicFeature Increased scrotal rugation Increased number or density of the folded ridges (wrinkles) of skin of the scrotum. UMLS:C4022706 hp.json http://purl.obolibrary.org/obo/HP_0012857 HP:0009216 biolink:PhenotypicFeature Cone-shaped epiphysis of the middle phalanx of the 4th finger A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4024525 hp.json Cone-shaped end part of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009216 HP:0012858 biolink:PhenotypicFeature Decreased scrotal rugation Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum. UMLS:C4022705 hp.json http://purl.obolibrary.org/obo/HP_0012858 HP:0009215 biolink:PhenotypicFeature Bracket epiphysis of the middle phalanx of the 4th finger An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024526 hp.json Bracket shaped end part of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009215 HP:0012859 biolink:PhenotypicFeature Esophageal leukoplakia A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease. SNOMEDCT_US:89057003|UMLS:C0267095 hp.json Esophageal epidermoid metaplasia http://purl.obolibrary.org/obo/HP_0012859 HP:0009210 biolink:PhenotypicFeature Pseudoepiphysis of the middle phalanx of the 5th finger A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024530 hp.json http://purl.obolibrary.org/obo/HP_0009210 HP:0009212 biolink:PhenotypicFeature Stippling of the epiphysis of the middle phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger. UMLS:C4024528 hp.json Speckled calcifications in end part of the middle bone of the pinkie finger|Speckled calcifications in end part of the middle bone of the little finger|Speckled calcifications in end part of the middle bone of the pinky finger http://purl.obolibrary.org/obo/HP_0009212 UBERON:0009027 biolink:AnatomicalEntity vesical artery An artery that supplies blood to the urinary bladder. EMAPA:37131|MA:0002078 hp.json arteria vesicali|vesical arteries http://purl.obolibrary.org/obo/UBERON_0009027 HP:0009211 biolink:PhenotypicFeature Small epiphysis of the middle phalanx of the 5th finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. UMLS:C4024529 hp.json Small end part of the middle bone of the pinkie finger|Small end part of the middle bone of the little finger|Small end part of the middle bone of the pinky finger http://purl.obolibrary.org/obo/HP_0009211 HP:0012840 biolink:PhenotypicFeature Proximal Localized close to the central point of the body. SNOMEDCT_US:40415009|UMLS:C0205107 hp.json http://purl.obolibrary.org/obo/HP_0012840 HP:0012841 biolink:PhenotypicFeature Retinal vascular tortuosity The presence of an increased number of twists and turns of the retinal blood vessels. UMLS:C1860475 hp.json Tortuous retinal vessels http://purl.obolibrary.org/obo/HP_0012841 CHEBI:27612 biolink:ChemicalSubstance hydantoin KEGG:C05146|Beilstein:110598|CAS:461-72-3|PDBeChem:HYN|Gmelin:101266|CAS:461-72-3|CAS:461-72-3 hp.json 2,4-imidazolidinedione|Hydantoin|2,4(3H,5H)-imidazoledione|imidazole-2,4(3H,5H)-dione|imidazolidine-2,4-dione|Glycolylurea http://purl.obolibrary.org/obo/CHEBI_27612 3_STAR HP:0012842 biolink:PhenotypicFeature Skin appendage neoplasm A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. NCIT:C3262|SNOMEDCT_US:126489007|UMLS:C0345988|SNOMEDCT_US:55681005 hp.json Skin adnexal tumor|Skin adnexal neoplasm|Skin adnexal tumour http://purl.obolibrary.org/obo/HP_0012842 HP:0012843 biolink:PhenotypicFeature Hair follicle neoplasm An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth. NCIT:C3262|UMLS:C0859920|SNOMEDCT_US:44155009 hp.json http://purl.obolibrary.org/obo/HP_0012843 HP:0000855 biolink:PhenotypicFeature Insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. MSH:D007333|SNOMEDCT_US:48606007|UMLS:C0021655 hp.json Body fails to respond to insulin http://purl.obolibrary.org/obo/HP_0000855 UBERON:0010000 biolink:AnatomicalEntity multicellular anatomical structure An anatomical structure that has more than one cell as a part. CARO:0010000|FBbt:00100313 hp.json multicellular structure http://purl.obolibrary.org/obo/UBERON_0010000 upper_level HP:0000854 biolink:PhenotypicFeature Thyroid adenoma The presence of a adenoma of the thyroid gland. MSH:D013964|SNOMEDCT_US:255034006|UMLS:C0151468|NCIT:C2855|SNOMEDCT_US:255033000 hp.json http://purl.obolibrary.org/obo/HP_0000854 HP:0000857 biolink:PhenotypicFeature Neonatal insulin-dependent diabetes mellitus UMLS:C3278636 hp.json http://purl.obolibrary.org/obo/HP_0000857 HP:0000859 biolink:PhenotypicFeature Hyperaldosteronism Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. MSH:D006929|SNOMEDCT_US:88213004|UMLS:C0020428 hp.json Increased aldosterone production|Increased aldosterone|Mineralocorticoid excess|Elevated plasma aldosterone http://purl.obolibrary.org/obo/HP_0000859 HP:0000858 biolink:PhenotypicFeature Irregular menstruation Abnormally high variation in the amount of time between periods. SNOMEDCT_US:80182007|UMLS:C0156404 hp.json Irregular menses|Irregular periods|Menstrual irregularities|Menstrual irregularity http://purl.obolibrary.org/obo/HP_0000858 UBERON:0010001 biolink:AnatomicalEntity cell cluster organ A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. CARO:0010001|FBbt:00007229 hp.json http://purl.obolibrary.org/obo/UBERON_0010001 upper_level CHEBI:64600 biolink:ChemicalSubstance C21-steroid hormone A steroid compound with a structure based on a 21-carbon (pregnane) skeleton that acts as a hormone. hp.json C21-steroid hormones http://purl.obolibrary.org/obo/CHEBI_64600 3_STAR HP:0000851 biolink:PhenotypicFeature Congenital hypothyroidism A type of hypothyroidism with congenital onset. MSH:D003409|UMLS:C0010308|SNOMEDCT_US:190268003|SNOMEDCT_US:217710005 hp.json Underactive thyroid gland from birth|Hypothyroidism, congenital http://purl.obolibrary.org/obo/HP_0000851 HP:0000853 biolink:PhenotypicFeature Goiter An enlargement of the thyroid gland. MSH:D006042|SNOMEDCT_US:3716002|UMLS:C0018021 hp.json Goitre|Enlarged thyroid gland in neck|Thyroid goiter|Thyroid goitre http://purl.obolibrary.org/obo/HP_0000853 HP:0000852 biolink:PhenotypicFeature Pseudohypoparathyroidism A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone. UMLS:C0033806|MSH:D011547|SNOMEDCT_US:58976002 hp.json http://purl.obolibrary.org/obo/HP_0000852 HP:0012844 biolink:PhenotypicFeature Trichilemmoma A benign tumour originating from the outer root sheath of the hair follicle. UMLS:C0334263|SNOMEDCT_US:274900003|SNOMEDCT_US:46199002 hp.json Tricholemmoma http://purl.obolibrary.org/obo/HP_0012844 UBERON:0009010 biolink:AnatomicalEntity periurethral tissue Any portion of tissue that surrounds a urethra. BTO:0005081 hp.json http://purl.obolibrary.org/obo/UBERON_0009010 HP:0012845 biolink:PhenotypicFeature Single trichilemmoma Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle. UMLS:C4022710 hp.json http://purl.obolibrary.org/obo/HP_0012845 HP:0012846 biolink:PhenotypicFeature Multiple trichilemmomata Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle. UMLS:C4021063 hp.json Multiple trichilemmomas http://purl.obolibrary.org/obo/HP_0012846 HP:0012847 biolink:PhenotypicFeature Epilepsia partialis continua Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years). MSH:D017036|UMLS:C0085543|SNOMEDCT_US:241006 hp.json Kozhevnikov's epilepsia|Epilepsia partialis continua of Kojevnikov|Kojevnikov's epilepsia http://purl.obolibrary.org/obo/HP_0012847 UBERON:0009014 biolink:AnatomicalEntity lower back skin A zone of skin that is part of a lower back. MA:0000504|EMAPA:37281 hp.json http://purl.obolibrary.org/obo/UBERON_0009014 organ_slim HP:0012848 biolink:PhenotypicFeature Small intestinal stenosis The narrowing or partial blockage of a portion of the small intestine. UMLS:C0151924 hp.json Narrowing of small intestine http://purl.obolibrary.org/obo/HP_0012848 UBERON:0009015 biolink:AnatomicalEntity upper back skin A zone of skin that is part of a dorsal thoracic segment of trunk. SCTID:304890003|MA:0000510|EMAPA:37280 hp.json http://purl.obolibrary.org/obo/UBERON_0009015 HP:0012849 biolink:PhenotypicFeature Small intestinal bleeding Bleeding from the small intestine. UMLS:C0520561|SNOMEDCT_US:70375006 hp.json Small intestinal hemorrhage|Small intestinal haemorrhage|Small intestinal bleeding http://purl.obolibrary.org/obo/HP_0012849 CHEBI:27622 biolink:ChemicalSubstance vanillylmandelate A hydroxy monocarboxylic acid anion that is the conjugate base of vanillylmandelic acid. KEGG:C05584 hp.json 3-Methoxy-4-hydroxymandelate|2-hydroxy-2-(4-hydroxy-3-methoxyphenyl)acetate|vanilmandelate http://purl.obolibrary.org/obo/CHEBI_27622 3_STAR HP:0012830 biolink:PhenotypicFeature Position The anatomical localization of the specified phenotypic abnormality. UMLS:C4019252 hp.json http://purl.obolibrary.org/obo/HP_0012830 HP:0012831 biolink:PhenotypicFeature Laterality The localization with respect to the side of the body of the specified phenotypic abnormality. SNOMEDCT_US:272741003|UMLS:C0332304 hp.json http://purl.obolibrary.org/obo/HP_0012831 HP:0012832 biolink:PhenotypicFeature Bilateral Being present on both sides of the body. UMLS:C0238767|SNOMEDCT_US:51440002 hp.json http://purl.obolibrary.org/obo/HP_0012832 HP:0000866 biolink:PhenotypicFeature Euthyroid multinodular goiter UMLS:C1846034 hp.json Euthyroid multinodular goitre http://purl.obolibrary.org/obo/HP_0000866 UBERON:0012651 biolink:AnatomicalEntity mucosa of gastroduodenal junction A mucosa that is part of a gastroduodenal junction. BTO:0005415 hp.json gastroduodenal mucosa http://purl.obolibrary.org/obo/UBERON_0012651 HP:0034203 biolink:PhenotypicFeature Decreased iduronate sulfatase level An decreased level of iduronate-2-sulfatase activity in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034203 HP:0034202 biolink:PhenotypicFeature Abnormal iduronate sulfatase concentration hp.json http://purl.obolibrary.org/obo/HP_0034202 UBERON:0012650 biolink:AnatomicalEntity gastroduodenal junction An anatomical junction that connects a stomach and connects a duodenum. FMA:17046 hp.json http://purl.obolibrary.org/obo/UBERON_0012650 HP:0000868 biolink:PhenotypicFeature Decreased fertility in females UMLS:C0151639 hp.json Decreased fertility in females|Reduced fertility in females http://purl.obolibrary.org/obo/HP_0000868 HP:0034205 biolink:PhenotypicFeature Iniencephaly Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion. hp.json http://purl.obolibrary.org/obo/HP_0034205 HP:0034204 biolink:PhenotypicFeature Decreased circulating C1-esterase inhibitor concentration Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034204 HP:0000867 biolink:PhenotypicFeature Secondary hyperparathyroidism Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia. UMLS:C0020503|SNOMEDCT_US:91478007|MSH:D006962 hp.json http://purl.obolibrary.org/obo/HP_0000867 HP:0000869 biolink:PhenotypicFeature Secondary amenorrhea UMLS:C0232940|SNOMEDCT_US:86030004 hp.json Previous menstrual periods stop http://purl.obolibrary.org/obo/HP_0000869 HP:0034201 biolink:PhenotypicFeature Increased CSF homovanillic acid concentration Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. hp.json http://purl.obolibrary.org/obo/HP_0034201 HP:0034200 biolink:PhenotypicFeature Abnormal CSF homovanillic acid concentration Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. hp.json http://purl.obolibrary.org/obo/HP_0034200 HP:0000860 biolink:PhenotypicFeature Parathyroid hypoplasia Developmental hypoplasia of the parathyroid gland. UMLS:C1389851 hp.json Underdeveloped parathyroid glands|Small parathyroid glands http://purl.obolibrary.org/obo/HP_0000860 HP:0034207 biolink:PhenotypicFeature Abnormal fetal gastrointestinal system morphology An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. hp.json http://purl.obolibrary.org/obo/HP_0034207 HP:0034206 biolink:PhenotypicFeature Abnormal fetal central nervous system morphology An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. hp.json Abnormal fetal CNS morphology http://purl.obolibrary.org/obo/HP_0034206 HP:0034209 biolink:PhenotypicFeature Fetal subependymal hemorrhage A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch. hp.json Grade I fetal intracranial hemorrhage http://purl.obolibrary.org/obo/HP_0034209 HP:0000864 biolink:PhenotypicFeature Abnormality of the hypothalamus-pituitary axis Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. UMLS:C4025819 hp.json http://purl.obolibrary.org/obo/HP_0000864 HP:0034208 biolink:PhenotypicFeature Fetal intracranial hemorrhage Abnormal bleeding inside the skull (cranium) of a fetus. hp.json http://purl.obolibrary.org/obo/HP_0034208 HP:0000863 biolink:PhenotypicFeature Central diabetes insipidus A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. MSH:D020790|SNOMEDCT_US:45369008|UMLS:C0687720 hp.json Neurohypophyseal diabetes insipidus http://purl.obolibrary.org/obo/HP_0000863 HP:0012833 biolink:PhenotypicFeature Unilateral Being present on only the left or only the right side of the body. SNOMEDCT_US:66459002|UMLS:C0205092 hp.json http://purl.obolibrary.org/obo/HP_0012833 HP:0012834 biolink:PhenotypicFeature Right Being located on the right side of the body. UMLS:C0444532|SNOMEDCT_US:264180000 hp.json Right-sided http://purl.obolibrary.org/obo/HP_0012834 HP:0012835 biolink:PhenotypicFeature Left Being located on the left side of the body. SNOMEDCT_US:263795004|UMLS:C0443246 hp.json Left-sided http://purl.obolibrary.org/obo/HP_0012835 UBERON:0009002 biolink:AnatomicalEntity placental membrane The membrane separating the fetal from the maternal blood in the placenta. UMLS:C0230984|BTO:0004196|NCIT:C34253 hp.json placental barrier http://purl.obolibrary.org/obo/UBERON_0009002 pheno_slim HP:0012836 biolink:PhenotypicFeature Spatial pattern The pattern by which a phenotype affects one or more regions of the body. UMLS:C4022711 hp.json http://purl.obolibrary.org/obo/HP_0012836 HP:0012837 biolink:PhenotypicFeature Generalized Affecting all regions without specificity of distribution. UMLS:C0205246|SNOMEDCT_US:60132005 hp.json Generalised http://purl.obolibrary.org/obo/HP_0012837 HP:0012838 biolink:PhenotypicFeature Localized Being confined or restricted to a particular location. SNOMEDCT_US:255471002|UMLS:C0392752 hp.json Localised|Localized http://purl.obolibrary.org/obo/HP_0012838 HP:0012839 biolink:PhenotypicFeature Distal Localized away from the central point of the body. SNOMEDCT_US:46053002|UMLS:C0205108 hp.json Outermost http://purl.obolibrary.org/obo/HP_0012839 HP:0009250 biolink:PhenotypicFeature Absent epiphysis of the distal phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger. UMLS:C4024497 hp.json Absent end part of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009250 HP:0009252 biolink:PhenotypicFeature Cone-shaped epiphysis of the distal phalanx of the 4th finger A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4024495 hp.json Cone-shaped end part of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009252 HP:0009251 biolink:PhenotypicFeature Bracket epiphysis of the distal phalanx of the 4th finger An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024496 hp.json Bracket shaped end part of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009251 UBERON:0010061 biolink:AnatomicalEntity lumen of nasopharynx FMA:55094 hp.json nasopharynx lumen|nasopharynx cavity|nasopharyngeal luman http://purl.obolibrary.org/obo/UBERON_0010061 UBERON:0010062 biolink:AnatomicalEntity pharyngotympanic tube epithelium EMAPA:32801|EHDAA2:0004117|FMA:285217|MA:0003142 hp.json eustachian tube epithelium|auditory tube epithelium http://purl.obolibrary.org/obo/UBERON_0010062 UBERON:0010060 biolink:AnatomicalEntity pharyngeal opening of pharyngotympanic tube On the lateral wall of the nasal part of the pharynx is the pharyngeal opening of auditory tube (pharyngeal ostium), somewhat triangular in shape, and bounded behind by a firm prominence, the torus or cushion, caused by the medial end of the cartilage of the tube which elevates the mucous membrane. FMA:54979 hp.json pharyngeal ostium of pharyngotympanic tube|ostium pharyngeum tubae auditoriae|pharyngeal opening of eustachian tube|pharyngeal orifice of eustachian tube|ostium pharyngeum tubae auditivae|ostium pharyngeum tubae auditivae|pharyngeal ostium|pharyngeal ostium of auditory tube|pharyngeal orifice of pharyngotympanic tube|pharyngeal opening of auditory tube|pharyngeal ostium of eustachian tube|pharyngeal tubal ostium|pharyngeal orifice of auditory tube http://purl.obolibrary.org/obo/UBERON_0010060 HP:0010247 biolink:PhenotypicFeature Bracket epiphyses of the distal phalanges of the hand An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4023952 hp.json Bracket shaped end part of the outermost hand bones http://purl.obolibrary.org/obo/HP_0010247 UBERON:0010065 biolink:AnatomicalEntity auditory meatus epithelium EHDAA2:0004114 hp.json http://purl.obolibrary.org/obo/UBERON_0010065 HP:0010246 biolink:PhenotypicFeature Absent epiphyses of the distal phalanges of the hand UMLS:C4023953 hp.json Absent end part of the outermost hand bones http://purl.obolibrary.org/obo/HP_0010246 HP:0010245 biolink:PhenotypicFeature Abnormality of the epiphyses of the proximal phalanges of the hand UMLS:C4023954 hp.json Abnormality of the end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010245 UBERON:0010063 biolink:AnatomicalEntity tympanic cavity epithelium EHDAA2:0004116 hp.json http://purl.obolibrary.org/obo/UBERON_0010063 UBERON:0010064 biolink:AnatomicalEntity open anatomical space An anatomical space with at least one opening to another space or the exterior. AEO:0000221|EHDAA2:0004616 hp.json http://purl.obolibrary.org/obo/UBERON_0010064 HP:0010244 biolink:PhenotypicFeature Abnormality of the epiphyses of the middle phalanges of the hand UMLS:C4023955 hp.json Abnormality of the end part of the middle hand bones http://purl.obolibrary.org/obo/HP_0010244 UBERON:0010069 biolink:AnatomicalEntity outer epithelial layer of tympanic membrane A portion of the external acoustic meatus epithelium which makes up the outer (cuticular) layer of the tympanic membrane. FMA:56819 hp.json tympanic membrane external acoustic meatus epithelial component|outer layer of tympanic membrane|cuticular stratum of tympanic membrane|outer cuticular layer of tympanic membrane|cuticular layer of tympanic membrane http://purl.obolibrary.org/obo/UBERON_0010069 HP:0010243 biolink:PhenotypicFeature Abnormality of the epiphyses of the distal phalanx of finger Any anomaly of distal epiphysis of phalanx of finger. UMLS:C4023956 hp.json Abnormality of the end part of the outermost bone of finger http://purl.obolibrary.org/obo/HP_0010243 HP:0010242 biolink:PhenotypicFeature Aplasia of the proximal phalanges of the hand UMLS:C4021302 hp.json Absent innermost bones|Absent proximal phalanges http://purl.obolibrary.org/obo/HP_0010242 HP:0010241 biolink:PhenotypicFeature Short proximal phalanx of finger Congenital hypoplasia of one or more proximal phalanx of finger. UMLS:C1860606 hp.json Short proximal phalanx of finger|Short innermost finger bones|Shortening in proximal phalanges|Hypoplasia of the proximal phalanges of the hand|Short proximal phalanges http://purl.obolibrary.org/obo/HP_0010241 CHEBI:64628 biolink:ChemicalSubstance somatostatin A fourteen-membered heterodetic cyclic peptide comprising the sequence Ala-Gly-Cys-Lys-Asn-Phe-Phe-Trp-Lys-Thr-Phe-Thr-Ser-Cys cyclised by a disulfide bridge between the two Cys residues at positions 3 and 14. PMID:22251942|LINCS:LSM-5326|CAS:38916-34-6|PMID:22483686|HMDB:HMDB0013072|CAS:38916-34-6|PMID:21922516|PMID:22509294|KEGG:C16022|KEGG:D07431|Reaxys:10148626|Wikipedia:Somatostatin|PMID:22147011|PMID:22129035|Drug_Central:2997 hp.json Somatostatin-1|somatostatine|L-alanylglycyl-L-cysteinyl-L-lysyl-L-asparaginyl-L-phenylalanyl-L-phenylalanyl-L-tryptophyl-L-lysyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-cysteine cyclic (3-14) disulfide|somatostatina|somatostatinum|L-alanyl-N-[(4R,7S,10S,13S,16S,19S,22S,25S,28S,31S,34S,37R)-19,34-bis(4-aminobutyl)-31-(2-amino-2-oxoethyl)-13,25,28-tribenzyl-4-carboxy-10,16-bis[(1R)-1-hydroxyethyl]-7-(hydroxymethyl)-22-(1H-indol-3-ylmethyl)-6,9,12,15,18,21,24,27,30,33,36-undecaoxo-1,2-dithia-5,8,11,14,17,20,23,26,29,32,35-undecaazacyclooctatriacontan-37-yl]glycinamide|Synthetic growth hormone release-inhibiting hormone|Ala-Gly-cyclo-[Cys-Lys-Asn-Phe-Phe-Trp-Lys-Thr-Phe-Thr-Ser-Cys]|Somatostatin-14|somatostatin http://purl.obolibrary.org/obo/CHEBI_64628 3_STAR HP:0010249 biolink:PhenotypicFeature Enlarged epiphyses of the distal phalanges of the hand UMLS:C4023950 hp.json Enlarged end part of the outermost hand bones http://purl.obolibrary.org/obo/HP_0010249 HP:0010248 biolink:PhenotypicFeature Cone-shaped epiphyses of the distal phalanges of the hand UMLS:C4023951 hp.json Cone-shaped end part of the outermost hand bones http://purl.obolibrary.org/obo/HP_0010248 HP:0009247 biolink:PhenotypicFeature Abnormality of the epiphysis of the middle phalanx of the 4th finger UMLS:C4024500 hp.json Abnormality of the end part of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009247 HP:0009246 biolink:PhenotypicFeature Aplasia of the distal phalanx of the 5th finger Absence of the distal phalanx of the little (5th) finger. UMLS:C4024501 hp.json Absent outermost little finger bone|Absent outermost pinkie finger bone|Absent outermost pinky finger bone http://purl.obolibrary.org/obo/HP_0009246 HP:0009249 biolink:PhenotypicFeature Abnormality of the epiphysis of the distal phalanx of the 4th finger UMLS:C4024498 hp.json Abnormality of the end part of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009249 HP:0009248 biolink:PhenotypicFeature Abnormality of the epiphysis of the proximal phalanx of the 4th finger UMLS:C4024499 hp.json Abnormality of the end part of the innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009248 HP:0009243 biolink:PhenotypicFeature Patchy sclerosis of the distal phalanx of the 5th finger Patchy increase in bone density of the distal phalanx of the 5th finger. UMLS:C4024503 hp.json Uneven increase in bone density in the outermost bone of pinkie finger|Uneven increase in bone density in the outermost bone of pinky finger|Uneven increase in bone density in the outermost bone of little finger http://purl.obolibrary.org/obo/HP_0009243 HP:0009242 biolink:PhenotypicFeature Osteolytic defects of the distal phalanx of the 5th finger Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger. UMLS:C4024504 hp.json http://purl.obolibrary.org/obo/HP_0009242 HP:0009245 biolink:PhenotypicFeature Triangular shaped distal phalanx of the 5th finger Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024502 hp.json Triangular shaped outermost pinky finger bone|Triangular shaped outermost little finger bone|Triangular shaped outermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0009245 HP:0009244 biolink:PhenotypicFeature Distal/middle symphalangism of 5th finger Fusion of the terminal/distal and middle phalanges of the 5th finger. UMLS:C1868573|UMLS:C4020781 hp.json Fused end and middle bones of little finger|Symphalangism of the terminal and middle phalanges of the 5th finger|Fusion of the terminal and middle phalanges of the 5th finger|Fifth finger distal interphalangeal joint symphalangism|Symphalangism of the distal and middle phalanges of the 5th finger|Fused end and middle bones of pinkie finger|Fused end and middle bones of pinky finger http://purl.obolibrary.org/obo/HP_0009244 HP:0012891 biolink:PhenotypicFeature High posterior hairline Hair on the neck extends less inferiorly than usual. UMLS:C4022692 hp.json High hairline at back of head http://purl.obolibrary.org/obo/HP_0012891 HP:0009261 biolink:PhenotypicFeature Absent epiphysis of the proximal phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger. UMLS:C4024487 hp.json Absent end part of the innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009261 HP:0012892 biolink:PhenotypicFeature Facial muscle hypertrophy Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). UMLS:C4280307|UMLS:C4022691 hp.json Increased size of facial muscles|Hyperplasia of facial muscles|Large facial muscles http://purl.obolibrary.org/obo/HP_0012892 HP:0009260 biolink:PhenotypicFeature Triangular epiphysis of the distal phalanx of the 4th finger A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4021507 hp.json Delta-shaped epiphysis of the distal phalanx of the 4th finger|Triangular end part of the outermost bone of ring finger http://purl.obolibrary.org/obo/HP_0009260 HP:0009263 biolink:PhenotypicFeature Cone-shaped epiphysis of the proximal phalanx of the 4th finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4024486 hp.json Cone-shaped end part of the innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009263 HP:0012893 biolink:PhenotypicFeature Neck muscle hypertrophy Muscle hypertrophy affecting the muscles of the neck. UMLS:C4280306|UMLS:C4022690 hp.json Large neck muscles|Overgrowth of neck muscles|Hypertrophy of cervical muscles|Increased size of neck muscles|Hyperplasia of neck muscles http://purl.obolibrary.org/obo/HP_0012893 HP:0009262 biolink:PhenotypicFeature Bracket epiphysis of the proximal phalanx of the 4th finger An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4021506 hp.json Bracket shaped end part of the innermost bone of the ring finger|Bracket proximal epiphysis of the ring finger http://purl.obolibrary.org/obo/HP_0009262 HP:0012894 biolink:PhenotypicFeature Paraspinal muscle hypertrophy Muscle hypertrophy affecting the paraspinal muscles. UMLS:C4022689 hp.json http://purl.obolibrary.org/obo/HP_0012894 HP:0012895 biolink:PhenotypicFeature Scapular muscle hypertrophy Muscle hypertrophy affecting the scapular muscles. UMLS:C4022688 hp.json http://purl.obolibrary.org/obo/HP_0012895 CHEBI:76619 biolink:ChemicalSubstance omega-methyl fatty acid anion A fatty acid anion obtained by deprotonation of the carboxy group of any omega-methyl fatty acid; major species at pH 7.3. hp.json an omega-methyl fatty acid http://purl.obolibrary.org/obo/CHEBI_76619 3_STAR HP:0012896 biolink:PhenotypicFeature Abnormal motor evoked potentials An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways. UMLS:C4022687 hp.json http://purl.obolibrary.org/obo/HP_0012896 HP:0012897 biolink:PhenotypicFeature Abnormal upper-limb motor evoked potentials An anomaly identified by motor evoked potentials (MEPs) in the arm. UMLS:C4021059 hp.json Abnormal motor evoked potentials in the upper limb http://purl.obolibrary.org/obo/HP_0012897 HP:0012898 biolink:PhenotypicFeature Abnormal lower-limb motor evoked potentials An anomaly identified by motor evoked potentials (MEPs) in the leg. UMLS:C4021058 hp.json Abnormal motor evoked potentials in the lower limb http://purl.obolibrary.org/obo/HP_0012898 HP:0010236 biolink:PhenotypicFeature Small epiphyses of the phalanges of the hand Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. UMLS:C4021305 hp.json Small epiphyses of the fingers|Small end part of finger bones http://purl.obolibrary.org/obo/HP_0010236 UBERON:0010054 biolink:AnatomicalEntity malleus cartilage element A malleus endochondral element that is composed primarily of cartilage tissue. EMAPA:18229 hp.json http://purl.obolibrary.org/obo/UBERON_0010054 HP:0010235 biolink:PhenotypicFeature Pseudoepiphyses of the phalanges of the hand A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4021306 hp.json Pseudoepiphysis of the fingers http://purl.obolibrary.org/obo/HP_0010235 UBERON:0010055 biolink:AnatomicalEntity stapes cartilage element A stapes endochondral element that is composed primarily of cartilage tissue. EMAPA:18230 hp.json http://purl.obolibrary.org/obo/UBERON_0010055 HP:0010234 biolink:PhenotypicFeature Ivory epiphyses of the phalanges of the hand Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C1857651 hp.json Ivory epiphyses of the fingers|Increased bone density of end part of the hand bones|Sclerotic ivory phalangeal epiphyses http://purl.obolibrary.org/obo/HP_0010234 UBERON:0010052 biolink:AnatomicalEntity mucosa of dorsum of tongue A mucosa that is part of a dorsum of tongue. SCTID:245835003|FMA:74871 hp.json mucosa of dorsal surface of tongue http://purl.obolibrary.org/obo/UBERON_0010052 HP:0010233 biolink:PhenotypicFeature Irregular epiphyses of the phalanges of the hand Irregular radiographic opacity of the epiphyses of the phalanges of the fingers. UMLS:C4021307 hp.json Irregular epiphyses of the fingers|Irregular end part of finger bones http://purl.obolibrary.org/obo/HP_0010233 HP:0010232 biolink:PhenotypicFeature Fragmentation of the epiphyses of the phalanges of the hand Fragmented appearance of the epiphyses of the phalanges of the fingers. UMLS:C4021308 hp.json Fragmentation of end part of finger bones|Fragmentation of the epiphyses of the fingers http://purl.obolibrary.org/obo/HP_0010232 UBERON:0010059 biolink:AnatomicalEntity hypoglossal cord EHDAA2:0004610 hp.json http://purl.obolibrary.org/obo/UBERON_0010059 HP:0010231 biolink:PhenotypicFeature Enlarged epiphyses of the phalanges of the hand Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. UMLS:C1865036 hp.json Enlarged phalangeal epiphyses|Enlarged epiphyses of the fingers|Enlarged end part of finger bones http://purl.obolibrary.org/obo/HP_0010231 HP:0010230 biolink:PhenotypicFeature Cone-shaped epiphyses of the phalanges of the hand A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. UMLS:C1859480 hp.json Conical phalangeal epiphyses|Coned epiphyses of hands|Cone-shaped epiphyses of the fingers|Cone-shaped end part of finger bones|Cone-shaped epiphyses of hand http://purl.obolibrary.org/obo/HP_0010230 UBERON:0010056 biolink:AnatomicalEntity future tongue A compound organ that has the potential to develop into a tongue. EHDAA:2951|EHDAA2:0000696 hp.json http://purl.obolibrary.org/obo/UBERON_0010056 HP:0012890 biolink:PhenotypicFeature Posteriorly placed anus Posterior malposition of the anus. UMLS:C4022693 hp.json http://purl.obolibrary.org/obo/HP_0012890 HP:0010239 biolink:PhenotypicFeature Aplasia of the middle phalanx of the hand Absence of one or more middle phalanx of a finger. UMLS:C1862096 hp.json Missing middle phalanges|Absent middle phalanges|Absent middle bones of hand http://purl.obolibrary.org/obo/HP_0010239 HP:0010238 biolink:PhenotypicFeature Triangular epiphyses of the phalanges of the hand A triangular appearance of the epiphyses of the phalanges of the fingers of the hand. UMLS:C4021303 hp.json Triangular epiphyses of the fingers|Delta-shaped epiphyses of the fingers|Triangular end part of finger bones http://purl.obolibrary.org/obo/HP_0010238 HP:0010237 biolink:PhenotypicFeature Epiphyseal stippling of finger phalanges The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers. UMLS:C4021304 hp.json Speckled calcifications in end part of finger bones|Stippling of the epiphyses of the phalanges of the hand|Stippling of the epiphyses of the fingers http://purl.obolibrary.org/obo/HP_0010237 HP:0009258 biolink:PhenotypicFeature Small epiphysis of the distal phalanx of the 4th finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. UMLS:C4024489 hp.json Small end part of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009258 HP:0012899 biolink:PhenotypicFeature Handgrip myotonia Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. UMLS:C1868623 hp.json Grip myotonia http://purl.obolibrary.org/obo/HP_0012899 HP:0009257 biolink:PhenotypicFeature Pseudoepiphysis of the distal phalanx of the 4th finger A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024490 hp.json http://purl.obolibrary.org/obo/HP_0009257 GO:1990849 biolink:BiologicalProcess vacuolar localization Any process in which the vacuole is transported to, and/or maintained in, a specific location within the cell. hp.json maintenance of vacuolar location|maintenance of vacuolar localization|maintenance of vacuole localization|maintenance of vacuole location http://purl.obolibrary.org/obo/GO_1990849 HP:0009259 biolink:PhenotypicFeature Stippling of the epiphysis of the distal phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger. UMLS:C4024488 hp.json Speckled calcifications in the end part of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009259 HP:0009254 biolink:PhenotypicFeature Fragmentation of the epiphysis of the distal phalanx of the 4th finger Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger. UMLS:C4024493 hp.json Fragmentation of end part of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009254 HP:0009253 biolink:PhenotypicFeature Enlarged epiphysis of the distal phalanx of the 4th finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. UMLS:C4024494 hp.json Enlarged end part of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009253 HP:0009256 biolink:PhenotypicFeature Ivory epiphysis of the distal phalanx of the 4th finger Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024491 hp.json Increased bone density of end part of the outermost ring finger bone http://purl.obolibrary.org/obo/HP_0009256 HP:0009255 biolink:PhenotypicFeature Irregular epiphysis of the distal phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger. UMLS:C4024492 hp.json Irregular end part of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009255 HP:0012880 biolink:PhenotypicFeature Abnormal labia minora morphology An anomaly of the labia minora, the folds of skin between the outer labia. UMLS:C4022696 hp.json Abnormality of the labia minora|Abnormality of the inner vaginal lips http://purl.obolibrary.org/obo/HP_0012880 HP:0012881 biolink:PhenotypicFeature Abnormal labia majora morphology An anomaly of the outer labia. UMLS:C4022695 hp.json Abnormality of vaginal lips|Abnormality of the labia majora http://purl.obolibrary.org/obo/HP_0012881 HP:0012882 biolink:PhenotypicFeature Hyperplastic labia majora Overgrowth of the outer labia. UMLS:C4021060 hp.json Hyperplasia of labia majora|Enlarged labia majora http://purl.obolibrary.org/obo/HP_0012882 HP:0009230 biolink:PhenotypicFeature Osteolytic defects of the proximal phalanx of the 5th finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger. UMLS:C4024514 hp.json http://purl.obolibrary.org/obo/HP_0009230 HP:0012883 biolink:PhenotypicFeature Fallopian tube cyst A fluid filled sac located in the Fallopian tube. SNOMEDCT_US:59401005|UMLS:C0269173 hp.json http://purl.obolibrary.org/obo/HP_0012883 HP:0012884 biolink:PhenotypicFeature Fallopian tube torsion A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation. UMLS:C0269169|SNOMEDCT_US:46946009 hp.json Twisted fallopian tube http://purl.obolibrary.org/obo/HP_0012884 HP:0012885 biolink:PhenotypicFeature Fallopian tube duplication The presence of a supernumerary Fallopian tube. SNOMEDCT_US:48672005|UMLS:C0266375 hp.json Accessory fallopian tube http://purl.obolibrary.org/obo/HP_0012885 HP:0012886 biolink:PhenotypicFeature Hemorrhagic ovarian cyst An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. UMLS:C0473311|SNOMEDCT_US:119420007 hp.json http://purl.obolibrary.org/obo/HP_0012886 HP:0012887 biolink:PhenotypicFeature Ovarian serous cystadenoma A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue. UMLS:C0346170|UMLS:C4020715|SNOMEDCT_US:119421006 hp.json Serous ovarian cyst http://purl.obolibrary.org/obo/HP_0012887 HP:0010225 biolink:PhenotypicFeature Pseudoepiphysis of the 4th metacarpal The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. UMLS:C4023959 hp.json http://purl.obolibrary.org/obo/HP_0010225 HP:0010224 biolink:PhenotypicFeature Abnormality of the epiphysis of the 4th metacarpal Any abnormality of the epiphysis of the 4th metacarpal bone. UMLS:C4023960 hp.json Abnormality of the end part of the 4th long bone of hand http://purl.obolibrary.org/obo/HP_0010224 HP:0010223 biolink:PhenotypicFeature Pseudoepiphysis of the 3rd metacarpal The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. UMLS:C4023961 hp.json http://purl.obolibrary.org/obo/HP_0010223 HP:0010222 biolink:PhenotypicFeature Abnormality of the epiphysis of the 3rd metacarpal Any abnormality of the epiphysis of the third metacarpal bone. UMLS:C4023962 hp.json Abnormality of the end part of the 3rd long bone of hand http://purl.obolibrary.org/obo/HP_0010222 UBERON:0010042 biolink:AnatomicalEntity 1st arch mesenchyme Mesenchyme that is part of a pharyngeal arch 1. EMAPA:16128 hp.json mesenchyme of 1st arch http://purl.obolibrary.org/obo/UBERON_0010042 UBERON:0010047 biolink:AnatomicalEntity oral gland Gland of the epithelium lining the oral cavity. The most common are the salivary glands. EMAPA:16723|VHOG:0000652|EHDAA:2181|EHDAA2:0001327|EMAPA:16572 hp.json gland of oral region|oral cavity gland|buccal gland|mouth gland|oral region gland|gland of oral opening http://purl.obolibrary.org/obo/UBERON_0010047 HP:0010221 biolink:PhenotypicFeature obsolete Pseudoepiphysis of the 2nd metacarpal hp.json http://purl.obolibrary.org/obo/HP_0010221 HP:0010220 biolink:PhenotypicFeature Abnormality of the epiphysis of the 2nd metacarpal Any abnormality of the epiphysis of the second metacarpal bone. UMLS:C4023964 hp.json Abnormality of the end part of the 2nd long bone of hand http://purl.obolibrary.org/obo/HP_0010220 UBERON:0010045 biolink:AnatomicalEntity 1st arch maxillary mesenchyme Mesenchyme that is part of a 1st arch maxillary component. EMAPA:16391|EHDAA2:0000041 hp.json maxillary component mesenchyme|maxillary mesenchyme|mesenchyme of maxillary component http://purl.obolibrary.org/obo/UBERON_0010045 UBERON:0010046 biolink:AnatomicalEntity entire pharyngeal arch associated mesenchyme The sum total of mesenchymal tissue in the pharyngeal arch region. Pharyngeal mesenchyme is undifferentiated, loose connective tissue derived mostly from mesoderm, and also contains ectodermally derived neural crest cells. XAO:0004524|EHDAA2:0001459|EMAPA:16550 hp.json associated mesenchyme of pharyngeal region|entire branchial arch associated mesenchyme|pharyngeal arch associated mesenchyme|entire branchial arch associated mesenchyme http://purl.obolibrary.org/obo/UBERON_0010046 HP:0000891 biolink:PhenotypicFeature Cervical ribs UMLS:C0158779|SNOMEDCT_US:72535009|MSH:D057070 hp.json http://purl.obolibrary.org/obo/HP_0000891 hposlim_core HP:0000890 biolink:PhenotypicFeature Long clavicles Increased length of the clavicles. SNOMEDCT_US:249687007|UMLS:C0426808 hp.json Long collarbone|Elongated clavicles http://purl.obolibrary.org/obo/HP_0000890 HP:0000893 biolink:PhenotypicFeature Bulging of the costochondral junction Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. UMLS:C1848538 hp.json http://purl.obolibrary.org/obo/HP_0000893 UBERON:0010039 biolink:AnatomicalEntity food storage organ An organ of the digestive tract that is capable of retaining and storing food. TGMA:0001041|BSA:0000123|TADS:0000172 hp.json http://purl.obolibrary.org/obo/UBERON_0010039 functional_classification|grouping_class HP:0000892 biolink:PhenotypicFeature Bifid ribs A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. UMLS:C4721788 hp.json Split ribs|Cleft ribs http://purl.obolibrary.org/obo/HP_0000892 HP:0010229 biolink:PhenotypicFeature Bracket epiphyses of the phalanges of the hand Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4021309 hp.json Bracket epiphyses of the fingers|Bracket shaped end part of finger bones http://purl.obolibrary.org/obo/HP_0010229 HP:0009229 biolink:PhenotypicFeature Curved proximal phalanx of the 5th finger Curved appearance of the proximal phalanx of the 5th finger. UMLS:C4024515 hp.json Curved innermost bone of pinkie finger|Curved innermost bone of pinky finger|Curved innermost bone of little finger http://purl.obolibrary.org/obo/HP_0009229 HP:0000895 biolink:PhenotypicFeature Lateral clavicle hook An excessive upward convexity of the lateral clavicle. SNOMEDCT_US:249684000|UMLS:C0426805 hp.json Hooked clavicle|Hook-shaped collarbone|Handlebar clavicle|Hook-shaped clavicle http://purl.obolibrary.org/obo/HP_0000895 HP:0000894 biolink:PhenotypicFeature Short clavicles Reduced length of the clavicles. UMLS:C0426799|SNOMEDCT_US:93250003 hp.json Hypoplastic clavicles|Short collarbone|Underdeveloped clavicles|Clavicular hypoplasia http://purl.obolibrary.org/obo/HP_0000894 hposlim_core HP:0009228 biolink:PhenotypicFeature Bullet-shaped proximal phalanx of the 5th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected. UMLS:C4024516 hp.json Bullet-shaped innermost little finger bone|Bullet-shaped innermost pinkie finger bone|Bullet-shaped innermost pinky finger bone http://purl.obolibrary.org/obo/HP_0009228 HP:0010228 biolink:PhenotypicFeature Absent epiphyses of the phalanges of the hand Absence of one or more epiphyses of the phalanges of the fingers. UMLS:C4021310 hp.json Absent end part of fingers|Absent epiphyses of the fingers http://purl.obolibrary.org/obo/HP_0010228 HP:0010227 biolink:PhenotypicFeature Pseudoepiphysis of the 5th metacarpal The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. UMLS:C4023957 hp.json http://purl.obolibrary.org/obo/HP_0010227 HP:0000897 biolink:PhenotypicFeature Rachitic rosary A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. SNOMEDCT_US:249702007|SNOMEDCT_US:15214001 hp.json http://purl.obolibrary.org/obo/HP_0000897 HP:0010226 biolink:PhenotypicFeature Abnormality of the epiphysis of the 5th metacarpal Any abnormality of the epiphysis of the fifth metacarpal bone. UMLS:C4023958 hp.json Abnormality of the end part of the long bone of pinky finger|Abnormality of the end part of the long bone of pinkie finger|Abnormality of the end part of the long bone of little finger http://purl.obolibrary.org/obo/HP_0010226 HP:0000896 biolink:PhenotypicFeature Rib exostoses Multiple circumscribed bony excrescences located in the ribs. UMLS:C1835579 hp.json http://purl.obolibrary.org/obo/HP_0000896 HP:0009225 biolink:PhenotypicFeature Aplasia of the proximal phalanx of the 5th finger Absence of the proximal phalanx of the little (5th) finger. UMLS:C4024517 hp.json Absent innermost bone of pinky finger|Absent innermost bone of pinkie finger|Absent innermost bone of little finger http://purl.obolibrary.org/obo/HP_0009225 HP:0012888 biolink:PhenotypicFeature Abnormal uterine cervix morphology An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. UMLS:C4022694 hp.json Abnormality of the uterine cervix http://purl.obolibrary.org/obo/HP_0012888 HP:0012889 biolink:PhenotypicFeature Cervical endometriosis Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix. UMLS:C0269107|SNOMEDCT_US:61640006 hp.json http://purl.obolibrary.org/obo/HP_0012889 HP:0009224 biolink:PhenotypicFeature Triangular epiphysis of the middle phalanx of the 4th finger A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4021510 hp.json Triangular end part of the middle bone of the ring finger|Delta-shaped epiphysis of the middle phalanx of the 4th finger http://purl.obolibrary.org/obo/HP_0009224 HP:0009227 biolink:PhenotypicFeature Broad proximal phalanx of the 5th finger Increased width of the proximal phalanx of the 5th finger. UMLS:C4021508 hp.json Broad innermost pinkie finger bone|Wide proximal phalanx of the 5th finger|Broad innermost pinky finger bone|Broad innermost little finger bone http://purl.obolibrary.org/obo/HP_0009227 HP:0009226 biolink:PhenotypicFeature Short proximal phalanx of the 5th finger Hypoplastic/small proximal phalanx of the fifth finger. UMLS:C4021509 hp.json Short proximal phalanx of the fifth finger|Short innermost little finger bone|Hypoplastic/small proximal phalanx of the 5th finger|Short innermost pinkie finger bone|Short innermost pinky finger bone http://purl.obolibrary.org/obo/HP_0009226 HP:0009221 biolink:PhenotypicFeature Pseudoepiphysis of the middle phalanx of the 4th finger A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024520 hp.json http://purl.obolibrary.org/obo/HP_0009221 HP:0009220 biolink:PhenotypicFeature Ivory epiphysis of the middle phalanx of the 4th finger Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024521 hp.json Increased bone density of end part of the middle ring finger bone http://purl.obolibrary.org/obo/HP_0009220 HP:0009223 biolink:PhenotypicFeature Stippling of the epiphysis of the middle phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger. UMLS:C4024518 hp.json Speckled calcifications in end part of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009223 HP:0009222 biolink:PhenotypicFeature Small epiphysis of the middle phalanx of the 4th finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. UMLS:C4024519 hp.json Small end part of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009222 HP:0012870 biolink:PhenotypicFeature Vanishing testis A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction. UMLS:C0266427|SNOMEDCT_US:53599007|MSH:C537770 hp.json Testicular regression syndrome|Vanishing testis http://purl.obolibrary.org/obo/HP_0012870 HP:0009241 biolink:PhenotypicFeature Bullet-shaped distal phalanx of the 5th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected. UMLS:C4024505 hp.json Bullet-shaped outermost pinky finger bone|Bullet-shaped outermost little finger bone|Bullet-shaped outermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0009241 HP:0012871 biolink:PhenotypicFeature Varicocele A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. SNOMEDCT_US:46871008|SNOMEDCT_US:51070004|UMLS:C0042341|MSH:D014646 hp.json Vaginal varicocele http://purl.obolibrary.org/obo/HP_0012871 HP:0012872 biolink:PhenotypicFeature Abnormal vas deferens morphology A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct. UMLS:C4022697 hp.json http://purl.obolibrary.org/obo/HP_0012872 HP:0009240 biolink:PhenotypicFeature Broad distal phalanx of the 5th finger Increased width of the distal phalanx of the 5th finger. UMLS:C4024506 hp.json Broad outermost little finger bone|Wide outermost pinky finger bone|Broad outermost pinky finger bone|Broad outermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0009240 HP:0012873 biolink:PhenotypicFeature Absent vas deferens Aplasia (congenital absence) of the vas deferens. UMLS:C0266444|SNOMEDCT_US:5286009|SNOMEDCT_US:702610009|SNOMEDCT_US:300506000 hp.json Absent deferent duct|Absent ductus deferens|Congenital absence of the vas deferens http://purl.obolibrary.org/obo/HP_0012873 HP:0012874 biolink:PhenotypicFeature Abnormal male reproductive system physiology An abnormal functionality of the male genital system. UMLS:C4020716 hp.json Abnormal male genital system physiology http://purl.obolibrary.org/obo/HP_0012874 HP:0012875 biolink:PhenotypicFeature Abnormal ejaculation Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. UMLS:C2937350|SNOMEDCT_US:386674000 hp.json http://purl.obolibrary.org/obo/HP_0012875 HP:0012876 biolink:PhenotypicFeature Premature ejaculation The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration. SNOMEDCT_US:44001008|UMLS:C0033038|MSH:D061686 hp.json Premature ejaculation http://purl.obolibrary.org/obo/HP_0012876 UBERON:0009042 biolink:AnatomicalEntity prostatic venous plexus The prostatic veins form a well-marked prostatic plexus which lies partly in the fascial sheath of the prostate and partly between the sheath and the prostatic capsule. It communicates with the pudendal and vesical plexuses. FMA:29711 hp.json pudendal venous plexus|plexus venosus prostaticus http://purl.obolibrary.org/obo/UBERON_0009042 UBERON:0010032 biolink:AnatomicalEntity anterior part of tongue The portion of the tongue in front of the terminal sulcus. At the apex, thin and narrow, it is directed forward against the lingual surfaces of the lower incisor teeth. It is derived primarily from the first pharyngeal arch. NCIT:C32130|FMA:229084|UMLS:C0226946|EMAPA:37437|Wikipedia:Anterior_tongue hp.json anterior two thirds of the tongue|anterior 2/3 of the tongue|pars anterior dorsi linguae|buccal part of the tongue|oral part of the tongue|front of the tongue|apex linguae|apex of the tongue|anterior two thirds of the tongue|pars anterior dorsi linguae|oral part of the tongue|buccal part of the tongue|anterior 2/3 of tongue|anterior 2/3 of the tongue|apex of the tongue|apex linguae|anterior 2/3 of tongue|front of the tongue http://purl.obolibrary.org/obo/UBERON_0010032 HP:0010214 biolink:PhenotypicFeature Contracture of the interphalangeal joint of the hallux The interphalangeal joint of the big toe cannot be straightened actively or passively. UMLS:C4023967 hp.json http://purl.obolibrary.org/obo/HP_0010214 UBERON:0010033 biolink:AnatomicalEntity posterior part of tongue The Posterior tongue, or pharyngeal part, is the part of the tongue behind the terminal sulcus. At its root, it is directed backward, and connected with the hyoid bone by the Hyoglossi and Genioglossi muscles and the hyoglossal membrane; with the epiglottis by three folds (glossoepiglottic) of mucous membrane; with the soft palate by the glossopalatine arches; and with the pharynx by the Constrictores pharyngis superiores and the mucous membrane. It is derived primarily from the third pharyngeal arch. (The second arch has a substantial contribution during fetal development, but this later atrophies. The fourth arch may also contribute, depending upon how the boundaries of the tongue are defined.). FMA:54645|MA:0003031|UMLS:C0226958|NCIT:C12228|EMAPA:37438 hp.json posterior part of dorsum of tongue|posterior 1/3 of the tongue|pars postsulcalis (dorsum linguae)|base of the tongue|pharyngeal part of tongue|pars posterior (dorsum linguae)|postsulcal part of dorsum of tongue|pharyngeal portion of dorsum of tongue|pharyngeal part of the tongue|radix linguae|pars posterior linguae|pars posterior dorsi linguae|posterior third of tongue|base of tongue http://purl.obolibrary.org/obo/UBERON_0010033 HP:0010213 biolink:PhenotypicFeature Contracture of the tarsometatarsal joint of the hallux Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints. UMLS:C4023968 hp.json http://purl.obolibrary.org/obo/HP_0010213 HP:0010212 biolink:PhenotypicFeature Flexion contracture of the hallux One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively. UMLS:C4021311 hp.json Joint contracture of the hallux|Joint contracture of the big toe http://purl.obolibrary.org/obo/HP_0010212 UBERON:0010031 biolink:AnatomicalEntity 6th arch mesenchyme Mesenchyme that is part of a pharyngeal arch 6. EMAPA:32765|EHDAA2:0004076|FMA:318209 hp.json 6th pharyngeal arch mesenchyme|pharyngeal arch 6 mesenchyme|6th branchial arch mesenchyme http://purl.obolibrary.org/obo/UBERON_0010031 HP:0010211 biolink:PhenotypicFeature Duplication of proximal phalanx of toe Partial/complete duplication of a proximal phalanx of toe. UMLS:C4021312 hp.json Partial/complete duplication of the proximal phalanges of the toes|Duplication of innermost toe bones http://purl.obolibrary.org/obo/HP_0010211 HP:0010210 biolink:PhenotypicFeature Triangular shaped proximal phalanges of the toes UMLS:C4023969 hp.json Triangular shaped innermost toe bones http://purl.obolibrary.org/obo/HP_0010210 UBERON:0010027 biolink:AnatomicalEntity dorsal part of pharyngeal pouch 4 hp.json dorsal pharyngeal pouch 4 endoderm|dorsal 4th branchial pouch|dorsal branchial pouch 4 endoderm|dorsal pharyngeal pouch 4 http://purl.obolibrary.org/obo/UBERON_0010027 UBERON:0010028 biolink:AnatomicalEntity ventral part of pharyngeal pouch 4 hp.json ventral 4th branchial pouch|ventral pharyngeal pouch 4 endoderm|ventral branchial pouch 4 endoderm|ventral pharyngeal pouch 4 http://purl.obolibrary.org/obo/UBERON_0010028 HP:0010219 biolink:PhenotypicFeature Structural foot deformity A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. UMLS:C4023965 hp.json http://purl.obolibrary.org/obo/HP_0010219 HP:0009239 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanx of the 5th finger UMLS:C4024507 hp.json Absent/underdeveloped outermost bone of pinky finger|Absent/small outermost bone of pinkie finger|Absent/small outermost bone of little finger|Absent/small outermost bone of pinky finger http://purl.obolibrary.org/obo/HP_0009239 HP:0010215 biolink:PhenotypicFeature Contractures of the metatarsophalangeal joint of the hallux The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively. UMLS:C4023966 hp.json http://purl.obolibrary.org/obo/HP_0010215 CHEBI:15611 biolink:ChemicalSubstance sarcosine A N-alkylglycine that is the N-methyl derivative of glycine. It is an intermediate in the metabolic pathway of glycine. PMID:19944746|HMDB:HMDB0000271|PMID:19577367|PMID:11272730|KEGG:C00213|CAS:107-97-1|PMID:17095900|PDBeChem:SAR|PMID:17190852|PMID:11850512|PMID:17901997|PMID:15023571|CAS:107-97-1|Gmelin:2018|CAS:107-97-1|MetaCyc:SARCOSINE|Wikipedia:Sarcosine|PMID:19619564|UM-BBD_compID:c0135|Beilstein:1699442|PMID:16154544|Reaxys:1699442|PMID:15331688|PMID:19433577 hp.json sarcosine|MeGly|L-sarcosine|methylaminoacetic acid|N-Methylglycine|N-methylaminoacetic acid|Sarcosine|(methylamino)acetic acid|Sar|SARCOSINE|(methylamino)ethanoic acid|sarcosinic acid http://purl.obolibrary.org/obo/CHEBI_15611 3_STAR HP:0012877 biolink:PhenotypicFeature Retrograde ejaculation The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. UMLS:C0403673|SNOMEDCT_US:50112006 hp.json http://purl.obolibrary.org/obo/HP_0012877 HP:0009236 biolink:PhenotypicFeature Rhomboid or triangular shaped 5th finger proximal phalanx Rhomboid or triangular shaped 5th (little) finger proximal phalanx. UMLS:C4024509 hp.json Rhomboid or triangular shaped innermost bone of pinky finger|Rhomboid or triangular shaped innermost bone of pinkie finger|Rhomboid or triangular shaped innermost bone of little finger http://purl.obolibrary.org/obo/HP_0009236 HP:0012878 biolink:PhenotypicFeature Retarded ejaculation Difficulty of a male in achieving orgasm. SNOMEDCT_US:15405008|UMLS:C0234047 hp.json Delayed ejaculation http://purl.obolibrary.org/obo/HP_0012878 HP:0009238 biolink:PhenotypicFeature Aplasia of the 5th finger Absent 5th (little) finger. UMLS:C4024508 hp.json Absent pinkie finger|Absent pinky finger|Absent little finger http://purl.obolibrary.org/obo/HP_0009238 HP:0012879 biolink:PhenotypicFeature Anejaculation Inability to ejaculate. SNOMEDCT_US:248782001|UMLS:C0278106|SNOMEDCT_US:42288005 hp.json Ejaculatory incompetence http://purl.obolibrary.org/obo/HP_0012879 HP:0009237 biolink:PhenotypicFeature Short 5th finger Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. UMLS:C1842878 hp.json Short phalanges of the little finger|Hypoplastic/small 5th finger|Fifth finger brachydactyly|Hypoplastic phalanges of the little finger|Short little finger|Short fifth fingers|Short pinky finger|Short pinkie finger|Short fifth finger|Hypoplastic/small little finger|Short 5th finger http://purl.obolibrary.org/obo/HP_0009237 HP:0009232 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanx of the 5th finger Fusion of the proximal phalanx of the 5th finger with another bone. UMLS:C4024512 hp.json Fused innermost bone of pinky finger|Fused innermost bone of pinkie finger|Fused innermost bone of little finger http://purl.obolibrary.org/obo/HP_0009232 HP:0009231 biolink:PhenotypicFeature Patchy sclerosis of the proximal phalanx of the 5th finger Patchy increase in bone density of the proximal phalanx of the 5th finger. UMLS:C4024513 hp.json Uneven increase in bone density in the innermost bone of pinky finger|Uneven increase in bone density in the innermost bone of pinkie finger|Uneven increase in bone density in the innermost bone of little finger http://purl.obolibrary.org/obo/HP_0009231 HP:0009234 biolink:PhenotypicFeature Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal. UMLS:C4024510 hp.json Fused innermost bone of little finger with 5th long bone of hand|Fused innermost bone of pinkie finger with 5th long bone of hand|Fused innermost bone of pinky finger with 5th long bone of hand http://purl.obolibrary.org/obo/HP_0009234 HP:0009233 biolink:PhenotypicFeature Triangular shaped proximal phalanx of the 5th finger Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024511 hp.json Triangular shaped innermost little finger bone|Triangular shaped innermost pinkie finger bone|Triangular shaped innermost pinky finger bone http://purl.obolibrary.org/obo/HP_0009233 GO:1902258 biolink:BiologicalProcess positive regulation of apoptotic process involved in outflow tract morphogenesis Any process that activates or increases the frequency, rate or extent of apoptotic process involved in outflow tract morphogenesis. hp.json upregulation of apoptotic process involved in outflow tract morphogenesis|up-regulation of apoptosis involved in outflow tract morphogenesis|up regulation of apoptosis involved in outflow tract morphogenesis|positive regulation of apoptosis involved in outflow tract morphogenesis|up-regulation of apoptotic process involved in outflow tract morphogenesis|up regulation of apoptotic process involved in outflow tract morphogenesis|upregulation of apoptosis involved in outflow tract morphogenesis|activation of apoptosis involved in outflow tract morphogenesis|activation of apoptotic process involved in outflow tract morphogenesis http://purl.obolibrary.org/obo/GO_1902258 GO:1902256 biolink:BiologicalProcess regulation of apoptotic process involved in outflow tract morphogenesis Any process that modulates the frequency, rate or extent of apoptotic process involved in outflow tract morphogenesis. hp.json regulation of apoptosis involved in outflow tract morphogenesis http://purl.obolibrary.org/obo/GO_1902256 GO:1902257 biolink:BiologicalProcess negative regulation of apoptotic process involved in outflow tract morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in outflow tract morphogenesis. hp.json down regulation of apoptosis involved in outflow tract morphogenesis|down-regulation of apoptotic process involved in outflow tract morphogenesis|downregulation of apoptosis involved in outflow tract morphogenesis|down regulation of apoptotic process involved in outflow tract morphogenesis|downregulation of apoptotic process involved in outflow tract morphogenesis|inhibition of apoptosis involved in outflow tract morphogenesis|inhibition of apoptotic process involved in outflow tract morphogenesis|down-regulation of apoptosis involved in outflow tract morphogenesis|negative regulation of apoptosis involved in outflow tract morphogenesis http://purl.obolibrary.org/obo/GO_1902257 GO:1902262 biolink:BiologicalProcess apoptotic process involved in blood vessel morphogenesis Any apoptotic process that is involved in blood vessel morphogenesis. hp.json apoptosis involved in patterning of blood vessels|type I programmed cell death involved in patterning of blood vessels|signaling (initiator) caspase activity involved in patterning of blood vessels|apoptotic cell death involved in patterning of blood vessels|apoptotic programmed cell death involved in patterning of blood vessels|apoptotic program involved in patterning of blood vessels|programmed cell death by apoptosis involved in patterning of blood vessels http://purl.obolibrary.org/obo/GO_1902262 GO:0001539 biolink:BiologicalProcess cilium or flagellum-dependent cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. hp.json ciliary/flagellar motility|ciliary or bacterial-type flagellar motility http://purl.obolibrary.org/obo/GO_0001539 gocheck_do_not_manually_annotate HP:0000808 biolink:PhenotypicFeature Penoscrotal hypospadias A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. SNOMEDCT_US:204889008|UMLS:C0452147 hp.json http://purl.obolibrary.org/obo/HP_0000808 HP:0000807 biolink:PhenotypicFeature Glandular hypospadias SNOMEDCT_US:429631000124104|SNOMEDCT_US:204891000|UMLS:C0452168 hp.json http://purl.obolibrary.org/obo/HP_0000807 HP:0000809 biolink:PhenotypicFeature Urinary tract atresia Congenital absence of the normal opening of a structure of the urinary tract. UMLS:C1389003 hp.json http://purl.obolibrary.org/obo/HP_0000809 HP:0000800 biolink:PhenotypicFeature Cystic renal dysplasia UMLS:C1834931 hp.json Renal cystic dysplasia|Renal dysplasia, cystic|Bilateral cystic dysplasia http://purl.obolibrary.org/obo/HP_0000800 HP:0000802 biolink:PhenotypicFeature Impotence Inability to develop or maintain an erection of the penis. MSH:D007172|SNOMEDCT_US:397803000|UMLS:C0242350 hp.json Difficulty getting an erection|Difficulty getting a full erection http://purl.obolibrary.org/obo/HP_0000802 HP:0000804 biolink:PhenotypicFeature Xanthine nephrolithiasis The presence of xanthine-containing calculi (stones) in the kidneys. UMLS:C1848431 hp.json Urinary xanthine stones|Xanthine stones http://purl.obolibrary.org/obo/HP_0000804 HP:0000803 biolink:PhenotypicFeature Renal cortical cysts Cysts of the cortex of the kidney. UMLS:C1969144 hp.json Cortical cysts http://purl.obolibrary.org/obo/HP_0000803 HP:0000805 biolink:PhenotypicFeature Enuresis Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. SNOMEDCT_US:8009008|MSH:D004775|UMLS:C0014394 hp.json http://purl.obolibrary.org/obo/HP_0000805 GO:1902275 biolink:BiologicalProcess regulation of chromatin organization Any process that modulates the frequency, rate or extent of chromatin organization. hp.json regulation of chromatin assembly or disassembly|regulation of establishment or maintenance of chromatin architecture|regulation of chromatin organisation|regulation of chromatin modification|regulation of chromatin assembly/disassembly http://purl.obolibrary.org/obo/GO_1902275 PR:000036194 biolink:Protein eukaryotic protein A protein that is encoded in the genome of some Eukaryota. hp.json Eukaryota protein http://purl.obolibrary.org/obo/PR_000036194 GO:0001523 biolink:BiologicalProcess retinoid metabolic process The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. hp.json retinoid metabolism http://purl.obolibrary.org/obo/GO_0001523 NCBITaxon:376913 biolink:OrganismalEntity Haplorrhini hp.json http://purl.obolibrary.org/obo/NCBITaxon_376913 CHEBI:25046 biolink:ChemicalSubstance linear tetrapyrrole hp.json http://purl.obolibrary.org/obo/CHEBI_25046 1_STAR CHEBI:37024 biolink:ChemicalSubstance 2-aminoadipic acid An alpha-amino acid that is adipic acid bearing a single amino substituent at position 2. An intermediate in the formation of lysine. PMID:22264337|PMID:6462455|PMID:31148|Wikipedia:Alpha-Aminoadipic_acid|HMDB:HMDB0000510|Reaxys:1724349|Beilstein:1724349|Beilstein:1773077|CAS:542-32-5 hp.json alpha-aminoadipic acid|DL-2-Aminoadipic acid|(+/-)-2-Aminoadipic acid|2-aminoadipic acid|alpha-Aminoadipic acid|aminoadipic acid|2-aminohexanedioic acid|DL-2-Aminohexanedioic acid|Aad|DL-alpha-Aminoadipic acid http://purl.obolibrary.org/obo/CHEBI_37024 3_STAR GO:0001525 biolink:BiologicalProcess angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. Wikipedia:Angiogenesis hp.json blood vessel formation from pre-existing blood vessels http://purl.obolibrary.org/obo/GO_0001525 CHEBI:37022 biolink:ChemicalSubstance amino-acid anion hp.json amino-acid anions|amino-acid anion|amino acid anions http://purl.obolibrary.org/obo/CHEBI_37022 3_STAR CHEBI:25017 biolink:ChemicalSubstance leucine A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isobutyl group. CAS:328-39-2|LIPID_MAPS_instance:LMFA01100048|Wikipedia:Leucine|CAS:328-39-2|KEGG:C16439|Gmelin:50203|Beilstein:636005|Reaxys:636005|PMID:17439666 hp.json Hleu|Leuzin|(RS)-Leucine|(+-)-Leucine|2-amino-4-methylpentanoic acid|Leucin|L|Leu|leucine|DL-Leucine http://purl.obolibrary.org/obo/CHEBI_25017 3_STAR HP:0012820 biolink:PhenotypicFeature Bilateral vocal cord paralysis A loss of the ability to move the vocal fold on both sides. UMLS:C2146481 hp.json http://purl.obolibrary.org/obo/HP_0012820 HP:0012821 biolink:PhenotypicFeature Unilateral vocal cord paresis Decreased strength of the vocal fold on one side. UMLS:C0751577|MSH:D014826 hp.json http://purl.obolibrary.org/obo/HP_0012821 HP:0000833 biolink:PhenotypicFeature obsolete Glucose intolerance hp.json http://purl.obolibrary.org/obo/HP_0000833 HP:0000832 biolink:PhenotypicFeature Primary hypothyroidism A type of hypothyroidism that results from a defect in the thyroid gland. SNOMEDCT_US:111566002|UMLS:C0700502 hp.json http://purl.obolibrary.org/obo/HP_0000832 HP:0000835 biolink:PhenotypicFeature Adrenal hypoplasia Developmental hypoplasia of the adrenal glands. MSH:C538429|UMLS:C0342491|UMLS:C1846223|SNOMEDCT_US:237774001 hp.json Hypoplastic adrenal glands|Small adrenal glands|Underdeveloped adrenal glands|Adrenal gland hypoplasia http://purl.obolibrary.org/obo/HP_0000835 HP:0000834 biolink:PhenotypicFeature Abnormality of the adrenal glands Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. UMLS:C0001621|SNOMEDCT_US:30171000|MSH:D000307|UMLS:C4021794 hp.json Adrenal abnormalities|Adrenal gland disease http://purl.obolibrary.org/obo/HP_0000834 HP:0000837 biolink:PhenotypicFeature Increased circulating gonadotropin level Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. UMLS:C1862265 hp.json Elevated gonadotropins|Elevated serum gonadotropins|Increased circulating gonadotropin level|Gonadotropin excess http://purl.obolibrary.org/obo/HP_0000837 HP:0000836 biolink:PhenotypicFeature Hyperthyroidism An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). UMLS:C0020550|MSH:D006980|SNOMEDCT_US:34486009 hp.json Overactive thyroid http://purl.obolibrary.org/obo/HP_0000836 HP:0000839 biolink:PhenotypicFeature Pituitary dwarfism A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. UMLS:C0013338|SNOMEDCT_US:7530009|MSH:D004393|SNOMEDCT_US:367460001 hp.json http://purl.obolibrary.org/obo/HP_0000839 HP:0000831 biolink:PhenotypicFeature Insulin-resistant diabetes mellitus A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. UMLS:C0854110 hp.json Insulin resistant diabetes mellitus|Insulin resistant diabetes|Insulin-resistant diabetes http://purl.obolibrary.org/obo/HP_0000831 PR:Q61391 biolink:Protein neprilysin (mouse) A neprilysin that is encoded in the genome of mouse. UniProtKB:Q61391 hp.json atriopeptidase (mouse)|skin fibroblast elastase (mouse)|NEP (mouse)|enkephalinase (mouse)|mMME|neutral endopeptidase (mouse)|SFE (mouse)|CD10 (mouse)|neutral endopeptidase 24.11 (mouse)|Mme http://purl.obolibrary.org/obo/PR_Q61391 HP:0000830 biolink:PhenotypicFeature Anterior hypopituitarism A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. UMLS:C4025821 hp.json http://purl.obolibrary.org/obo/HP_0000830 HP:0012822 biolink:PhenotypicFeature Bilateral vocal cord paresis Decreased strength of the vocal fold on both sides. UMLS:C0751574|MSH:D014826 hp.json http://purl.obolibrary.org/obo/HP_0012822 HP:0012823 biolink:PhenotypicFeature Clinical modifier This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. UMLS:C4021064 hp.json Phenotypic modifier http://purl.obolibrary.org/obo/HP_0012823 HP:0012824 biolink:PhenotypicFeature Severity The intensity or degree of a manifestation. SNOMEDCT_US:103370009|UMLS:C0522510 hp.json Intensity http://purl.obolibrary.org/obo/HP_0012824 HP:0012825 biolink:PhenotypicFeature Mild Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. SNOMEDCT_US:446411000124101|UMLS:C1513302 hp.json Mild http://purl.obolibrary.org/obo/HP_0012825 HP:0012826 biolink:PhenotypicFeature Moderate Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. UMLS:C0205081|SNOMEDCT_US:446421000124109|SNOMEDCT_US:6736007 hp.json http://purl.obolibrary.org/obo/HP_0012826 HP:0012827 biolink:PhenotypicFeature Borderline Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean. UMLS:C0205189 hp.json Borderline http://purl.obolibrary.org/obo/HP_0012827 CHEBI:15681 biolink:ChemicalSubstance alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide A sialodiosylceramide consisting of the trisaccharide alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc attached to the primary hydroxy function of ceramide. PMID:8448384|PMID:3864442|PMID:2449247|PMID:21149694|PMID:11164910|PMID:16212238|PMID:1379980|PMID:1371229|LIPID_MAPS_instance:LMSP0601AJ00|KEGG:G00108|PMID:7693874|PMID:1724444|PMID:15385432|PMID:1567198|PMID:7534889|PMID:2775195|PMID:2448252|PMID:15102521|PMID:12950986|PMID:16341241|KEGG:C04730|PMID:2303428|PMID:15546874|PMID:3392043|PMID:11093705|PMID:19364317|PMID:9375803|PMID:15939439|PMID:167132|PMID:2714813|PMID:16574813|PMID:8496625|PMID:11534772 hp.json (Gal)1 (Glc)1 (Neu5Ac)1 (Cer)1|NeuAc-GM3|NeuAcalpha2-3Galbeta1-4Glcbeta1-1'Cer|(N-Acetylneuraminyl)-D-galactosyl-D-glucosylceramide|GM3 (NeuAc)|alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramide|NeuAcalpha2->3Galbeta1->4Glc-Cer|(2S,3R,4E)-2-(acylamino)-3-hydroxyoctadec-4-en-1-yl 5-acetamido-3,5-dideoxy-D-glycero-alpha-D-galacto-non-2-ulopyranonosyl-(2->3)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranoside|alpha-N-Acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide|N-Acetylneuraminyl-2,3-alpha-D-galactosyl-1,4-beta-D-glucosylceramide|Hematoside|monosialoganglioside GM3|alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramides|(Neu5Ac)GM3|alpha-Neu5Ac-(2->3)-beta-D-Galp-(1->4)-beta-D-Glcp-(1<->1')-Cer|Neu5Ac-alpha2->3Gal-beta1->4Glc-beta1->1'Cer|GM3|alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer|ganglioside GM3|Neu5Acalpha2->3Galbeta1->4Glcbeta-Cer http://purl.obolibrary.org/obo/CHEBI_15681 3_STAR HP:0012828 biolink:PhenotypicFeature Severe Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. UMLS:C0205082|SNOMEDCT_US:24484000 hp.json Severe http://purl.obolibrary.org/obo/HP_0012828 HP:0012829 biolink:PhenotypicFeature Profound Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. UMLS:C0439808|SNOMEDCT_US:795002 hp.json Profound http://purl.obolibrary.org/obo/HP_0012829 GO:0001501 biolink:BiologicalProcess skeletal system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). hp.json skeletal development http://purl.obolibrary.org/obo/GO_0001501 HP:0012810 biolink:PhenotypicFeature Wide nasal base Increased distance between the attachments of the alae nasi to the face. UMLS:C1849667 hp.json Broad nasal base|Wide nasal base|Increased width of base of nose|Broad base of nose|Wide base of nose|Increased width of nasal base http://purl.obolibrary.org/obo/HP_0012810 HP:0000843 biolink:PhenotypicFeature Hyperparathyroidism Excessive production of parathyroid hormone (PTH) by the parathyroid glands. SNOMEDCT_US:66999008|UMLS:C0020502|MSH:D006961 hp.json Elevated blood parathyroid hormone level http://purl.obolibrary.org/obo/HP_0000843 HP:0000846 biolink:PhenotypicFeature Adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. MSH:D000309|SNOMEDCT_US:386584007|SNOMEDCT_US:237785004|SNOMEDCT_US:111563005|UMLS:C0001623 hp.json Hypoadrenalism http://purl.obolibrary.org/obo/HP_0000846 HP:0000845 biolink:PhenotypicFeature Elevated circulating growth hormone concentration Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. MSH:D000172|UMLS:C0001206|MSH:C531600|SNOMEDCT_US:74107003|UMLS:C0235986 hp.json Somatotropin excess|Growth hormone excess|Elevated circulating somatotropin concentration http://purl.obolibrary.org/obo/HP_0000845 HP:0000848 biolink:PhenotypicFeature Increased circulating renin level An increased level of renin in the blood. UMLS:C0240783 hp.json Increased serum renin|Elevated plasma renin|Hyperreninemia|Elevated blood renin level|Increased plasma renin http://purl.obolibrary.org/obo/HP_0000848 HP:0000847 biolink:PhenotypicFeature Abnormality of renin-angiotensin system An abnormality of the renin-angiotensin system. UMLS:C4021793 hp.json Abnormality of the renin-aldosterone axis http://purl.obolibrary.org/obo/HP_0000847 HP:0000849 biolink:PhenotypicFeature Adrenocortical abnormality UMLS:C4025820 hp.json http://purl.obolibrary.org/obo/HP_0000849 HP:0012819 biolink:PhenotypicFeature Myocarditis Inflammation of the myocardium. MSH:D009205|UMLS:C0027059|SNOMEDCT_US:50920009 hp.json Inflammation of heart muscle http://purl.obolibrary.org/obo/HP_0012819 CHEBI:15676 biolink:ChemicalSubstance allantoin An imidazolidine-2,4-dione that is 5-aminohydantoin in which a carbamoyl group is attached to the exocyclic nitrogen. CAS:97-59-6|HMDB:HMDB0000462|PMID:11157020|CAS:97-59-6|Reaxys:83514|LINCS:LSM-5190|PMID:14619112|KNApSAcK:C00007468|Drug_Central:4268|PMID:17190852|Patent:US2158098|KEGG:C01551|KEGG:D00121|MetaCyc:ALLANTOIN|Wikipedia:Allantoin|CAS:97-59-6 hp.json 5-Ureido-2,4-imidazolidindione|allantoin|5-Ureidohydantoin|(2,5-Dioxo-4-imidazolidinyl)urea|4-ureido-2,5-imidazolidinedione|2,5-Dioxo-4-imidazolidinyl-urea|N-(2,5-Dioxo-4-imidazolidinyl)urea|Glyoxyldiureide|Allantoin|N-(2,5-dioxoimidazolidin-4-yl)urea http://purl.obolibrary.org/obo/CHEBI_15676 3_STAR HP:0000840 biolink:PhenotypicFeature Adrenogenital syndrome Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. SNOMEDCT_US:267395000|UMLS:C0302280|SNOMEDCT_US:237751000|SNOMEDCT_US:271077003|MSH:D047808 hp.json http://purl.obolibrary.org/obo/HP_0000840 HP:0000842 biolink:PhenotypicFeature Hyperinsulinemia An increased concentration of insulin in the blood. UMLS:C0020459|SNOMEDCT_US:83469008|MSH:D006946 hp.json Elevated insulin level http://purl.obolibrary.org/obo/HP_0000842 HP:0000841 biolink:PhenotypicFeature Hyperactive renin-angiotensin system An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. UMLS:C1846345|UMLS:C3150267 hp.json Increased plasma renin activity http://purl.obolibrary.org/obo/HP_0000841 HP:0012811 biolink:PhenotypicFeature Wide nasal ridge Increased width of the nasal ridge. UMLS:C4020718 hp.json Nasal ridge, wide|Increased width of nasal ridge|Increased width of dorsum of nose|Broad nasal ridge|Broad dorsum of nose|Wide dorsum of nose|Increased width of nasal dorsum|Broad nasal dorsum|Wide nasal dorsum|Wide nasal ridge http://purl.obolibrary.org/obo/HP_0012811 HP:0012812 biolink:PhenotypicFeature Fullness of paranasal tissue Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. UMLS:C4021065|UMLS:C4280309|UMLS:C4280308 hp.json Hypertrophy of paranasal tissue|Paranasal fullness|Laterally built up nose|Thick paranasal tissue|Thick tissue around the nose|Hyperplasia of paranasal tissue|Fullness of tissue around the nose http://purl.obolibrary.org/obo/HP_0012812 GO:0001508 biolink:BiologicalProcess action potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. hp.json http://purl.obolibrary.org/obo/GO_0001508 HP:0012813 biolink:PhenotypicFeature Unilateral breast hypoplasia Underdevelopment of the breast on one side only. UMLS:C1844722 hp.json One underdeveloped breast http://purl.obolibrary.org/obo/HP_0012813 HP:0012814 biolink:PhenotypicFeature Bilateral breast hypoplasia Underdevelopment of the breast on both sides. UMLS:C4022716 hp.json Two underdeveloped breasts http://purl.obolibrary.org/obo/HP_0012814 HP:0012815 biolink:PhenotypicFeature Hypoplastic female external genitalia Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). UMLS:C4022715 hp.json Underdeveloped female external genitalia http://purl.obolibrary.org/obo/HP_0012815 GO:0001503 biolink:BiologicalProcess ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. Wikipedia:Ossification hp.json bone formation|osteogenesis|bone biosynthesis http://purl.obolibrary.org/obo/GO_0001503 HP:0012816 biolink:PhenotypicFeature Right ventricular noncompaction cardiomyopathy A predominantly right ventricular variant of isolated noncompaction cardiomyopathy. UMLS:C4022714 hp.json http://purl.obolibrary.org/obo/HP_0012816 HP:0012817 biolink:PhenotypicFeature Noncompaction cardiomyopathy A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. UMLS:C1839832 hp.json Noncompaction of the ventricular myocardium|Spongiform cardiomyopathy http://purl.obolibrary.org/obo/HP_0012817 HP:0012818 biolink:PhenotypicFeature Biventricular noncompaction cardiomyopathy Noncompaction cardiomyopathy that affects both ventricles. UMLS:C4022713 hp.json http://purl.obolibrary.org/obo/HP_0012818 HP:0000819 biolink:PhenotypicFeature Diabetes mellitus A group of abnormalities characterized by hyperglycemia and glucose intolerance. MSH:D003920|SNOMEDCT_US:73211009|UMLS:C0011849 hp.json http://purl.obolibrary.org/obo/HP_0000819 HP:0000818 biolink:PhenotypicFeature Abnormality of the endocrine system An abnormality of the endocrine system. SNOMEDCT_US:362969004|MSH:D004700|UMLS:C0014130|UMLS:C4025823 hp.json Endocrine system disease http://purl.obolibrary.org/obo/HP_0000818 HP:0000811 biolink:PhenotypicFeature Abnormal external genitalia UMLS:C4025825 hp.json Abnormal external genitalia http://purl.obolibrary.org/obo/HP_0000811 HP:0000813 biolink:PhenotypicFeature Bicornuate uterus The presence of a bicornuate uterus. UMLS:C0266387|SNOMEDCT_US:31401003 hp.json Uterus bicornis|Heart-shaped uterus|Heart shaped uterus http://purl.obolibrary.org/obo/HP_0000813 HP:0000812 biolink:PhenotypicFeature Abnormal internal genitalia An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). UMLS:C4025824 hp.json Abnormal internal genitalia http://purl.obolibrary.org/obo/HP_0000812 HP:0000815 biolink:PhenotypicFeature Hypergonadotropic hypogonadism Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. UMLS:C0948896|SNOMEDCT_US:370999003|MSH:D007006 hp.json Hypergonadotrophic hypogonadism|Primary hypogonadism http://purl.obolibrary.org/obo/HP_0000815 HP:0000817 biolink:PhenotypicFeature Poor eye contact Difficulty in looking at another person in the eye. UMLS:C1445953|SNOMEDCT_US:412786000 hp.json Poor eye contact http://purl.obolibrary.org/obo/HP_0000817 HP:0000816 biolink:PhenotypicFeature Abnormality of Krebs cycle metabolism An abnormality of the tricarboxylic acid cycle. UMLS:C4021795 hp.json Abnormality of citric acid cycle|Abnormality of the tricarboxylic cycle http://purl.obolibrary.org/obo/HP_0000816 UBERON:0012615 biolink:AnatomicalEntity umbilical smooth muscle A smooth muscle tissue that is part of a umbilical cord. BTO:0001847 hp.json http://purl.obolibrary.org/obo/UBERON_0012615 HP:0012808 biolink:PhenotypicFeature Abnormal nasal base An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. UMLS:C4022718 hp.json Anomaly of base of nose|Deformity of base of nose|Malformation of base of nose|Anomaly of nasal base|Deformity of nasal base|Malformation of nasal base|Abnormal nasal base|Abnormality of base of nose http://purl.obolibrary.org/obo/HP_0012808 HP:0012809 biolink:PhenotypicFeature Narrow nasal base Decreased distance between the attachments of the alae nasi to the face. UMLS:C4022717 hp.json Decreased width of nasal base|Narrow nasal base|Thin base of nose|Narrow base of nose|Decreased width of base of nose|Thin nasal base http://purl.obolibrary.org/obo/HP_0012809 HP:0012800 biolink:PhenotypicFeature Accessory cranial suture A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. UMLS:C4022927|UMLS:C4021067 hp.json Supernumary fontanelle|Extra fontanelle|Supernumary cranial suture|Accessory fontanelle|Extra cranial suture http://purl.obolibrary.org/obo/HP_0012800 HP:0012801 biolink:PhenotypicFeature Narrow jaw Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). UMLS:C4021066|UMLS:C4280310 hp.json Thin lower jaw|Narrow lower face|Thin lower face|Narrow lower jaw|Narrow jaw|Narrow mandible http://purl.obolibrary.org/obo/HP_0012801 HP:0012802 biolink:PhenotypicFeature Broad jaw Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). UMLS:C3281059 hp.json Wide jaw|Broad mandible|Wide mandible|Broad jaw|Broad lower face http://purl.obolibrary.org/obo/HP_0012802 UBERON:0000642 biolink:AnatomicalEntity suspensory ligament of duodenum A thin muscle connecting the junction between the duodenum, jejunum, and duodenojejunal flexure to connective tissue surrounding the superior mesenteric artery and coeliac artery. FMA:20509 hp.json musculus suspensorius duodeni|ligament of Treitz|musculus suspensorius duodeni|suspensory muscle of duodenum|muscle of Treitz http://purl.obolibrary.org/obo/UBERON_0000642 HP:0012803 biolink:PhenotypicFeature Anisometropia Inequality of refractive power of the two eyes. UMLS:C0003081|SNOMEDCT_US:3289004|MSH:D015858 hp.json http://purl.obolibrary.org/obo/HP_0012803 HP:0012804 biolink:PhenotypicFeature Corneal ulceration Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. MSH:D003320|UMLS:C0010043|SNOMEDCT_US:91514001 hp.json Corneal ulcer|Corneal ulcerations http://purl.obolibrary.org/obo/HP_0012804 HP:0012805 biolink:PhenotypicFeature Iris transillumination defect Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. UMLS:C1096099 hp.json http://purl.obolibrary.org/obo/HP_0012805 HP:0012806 biolink:PhenotypicFeature Proboscis A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. UMLS:C0687082 hp.json http://purl.obolibrary.org/obo/HP_0012806 HP:0012807 biolink:PhenotypicFeature High insertion of columella Insertion of the posterior columella superior to the nasal base. UMLS:C4020909 hp.json Ala lower than columella|Columella, high insertion http://purl.obolibrary.org/obo/HP_0012807 hposlim_core HP:0000829 biolink:PhenotypicFeature Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. SNOMEDCT_US:36976004|MSH:D007011|UMLS:C0020626 hp.json Decreased parathyroid hormone secretion|Low parathyroid hormone http://purl.obolibrary.org/obo/HP_0000829 HP:0000822 biolink:PhenotypicFeature Hypertension The presence of chronic increased pressure in the systemic arterial system. MSH:D006973|UMLS:C0497247|UMLS:C0020538|SNOMEDCT_US:24184005|SNOMEDCT_US:38341003 hp.json High blood pressure|Systemic hypertension|Arterial hypertension http://purl.obolibrary.org/obo/HP_0000822 HP:0000821 biolink:PhenotypicFeature Hypothyroidism Deficiency of thyroid hormone. MSH:D007037|SNOMEDCT_US:40930008|UMLS:C0020676 hp.json Low T4|Underactive thyroid http://purl.obolibrary.org/obo/HP_0000821 HP:0000824 biolink:PhenotypicFeature Decreased response to growth hormone stimulation test Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. UMLS:C3714796|SNOMEDCT_US:2109003 hp.json Somatotropin deficiency|Growth hormone deficiency http://purl.obolibrary.org/obo/HP_0000824 HP:0000823 biolink:PhenotypicFeature Delayed puberty Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. SNOMEDCT_US:400003000|SNOMEDCT_US:123526007|MSH:D011628|UMLS:C0034012 hp.json Delayed pubertal growth|Pubertal delay|Delayed puberty|Delayed pubertal development http://purl.obolibrary.org/obo/HP_0000823 HP:0000826 biolink:PhenotypicFeature Precocious puberty The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. SNOMEDCT_US:400179000|UMLS:C0034013|MSH:D011629|SNOMEDCT_US:123527003 hp.json Early onset of puberty|Early puberty http://purl.obolibrary.org/obo/HP_0000826 HP:0000825 biolink:PhenotypicFeature Hyperinsulinemic hypoglycemia An increased concentration of insulin combined with a decreased concentration of glucose in the blood. UMLS:C1864903 hp.json Hyperinsulinaemic hypoglycaemia|Hyperinsulinemia hypoglycemia http://purl.obolibrary.org/obo/HP_0000825 HP:0000828 biolink:PhenotypicFeature Abnormality of the parathyroid gland An abnormality of the parathyroid gland. SNOMEDCT_US:73132005|UMLS:C0030517|MSH:D010279|UMLS:C4025822 hp.json Parathyroid disease http://purl.obolibrary.org/obo/HP_0000828 HP:0000820 biolink:PhenotypicFeature Abnormality of the thyroid gland An abnormality of the thyroid gland. MSH:D013959|UMLS:C0040128|SNOMEDCT_US:14304000 hp.json Thyroid disease|Thyroid abnormality|Abnormality of the thyroid gland http://purl.obolibrary.org/obo/HP_0000820 CHEBI:15693 biolink:ChemicalSubstance aldose Aldehydic parent sugars (polyhydroxy aldehydes H[CH(OH)]nC(=O)H, n >= 2) and their intramolecular hemiacetals. Wikipedia:Aldose|KEGG:C01370 hp.json aldoses|an aldose|Aldose http://purl.obolibrary.org/obo/CHEBI_15693 3_STAR UBERON:4000020 biolink:AnatomicalEntity mineralized extracellular matrix Extracellular matrix that is mineralized. hp.json http://purl.obolibrary.org/obo/UBERON_4000020 GO:1904831 biolink:BiologicalProcess positive regulation of aortic smooth muscle cell differentiation Any process that activates or increases the frequency, rate or extent of aortic smooth muscle cell differentiation. hp.json activation of aortic smooth muscle cell differentiation|upregulation of aortic smooth muscle cell differentiation|up-regulation of aortic smooth muscle cell differentiation|up regulation of aortic smooth muscle cell differentiation http://purl.obolibrary.org/obo/GO_1904831 GO:1904830 biolink:BiologicalProcess negative regulation of aortic smooth muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of aortic smooth muscle cell differentiation. hp.json down-regulation of aortic smooth muscle cell differentiation|down regulation of aortic smooth muscle cell differentiation|inhibition of aortic smooth muscle cell differentiation|downregulation of aortic smooth muscle cell differentiation http://purl.obolibrary.org/obo/GO_1904830 CL:0000362 biolink:Cell epidermal cell An epithelial cell of the integument (the outer layer of an organism). BTO:0001470|CALOHA:TS-0283|FMA:62411 hp.json cell of epidermis|epithelial cell of skin http://purl.obolibrary.org/obo/CL_0000362 CL:0000365 biolink:Cell animal zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. FMA:72395|BTO:0000854|EHDAA2:0004546 hp.json zygote http://purl.obolibrary.org/obo/CL_0000365 UBERON:4000013 biolink:AnatomicalEntity mineralized skeletal tissue Skeletal tissue that is mineralized. XAO:0004039|VSAO:0000013 hp.json mineralized tissue http://purl.obolibrary.org/obo/UBERON_4000013 GO:0050433 biolink:BiologicalProcess regulation of catecholamine secretion Any process that modulates the frequency, rate or extent of the regulated release of catecholamines. hp.json http://purl.obolibrary.org/obo/GO_0050433 GO:0050432 biolink:BiologicalProcess catecholamine secretion The regulated release of catecholamines by a cell. The catecholamines are a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. hp.json http://purl.obolibrary.org/obo/GO_0050432 CL:0000347 biolink:Cell scleral cell A cell of the sclera of the eye. hp.json http://purl.obolibrary.org/obo/CL_0000347 CL:0000348 biolink:Cell choroidal cell of the eye A cell of the choroid of the eye. hp.json http://purl.obolibrary.org/obo/CL_0000348 CL:0000349 biolink:Cell extraembryonic cell hp.json http://purl.obolibrary.org/obo/CL_0000349 CL:0000359 biolink:Cell vascular associated smooth muscle cell A smooth muscle cell associated with the vasculature. hp.json vascular smooth muscle cell|VSMC http://purl.obolibrary.org/obo/CL_0000359 CL:0000351 biolink:Cell trophoblast cell A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface. FMA:83028 hp.json trophoblastic cell http://purl.obolibrary.org/obo/CL_0000351 CL:0000352 biolink:Cell epiblast cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. hp.json http://purl.obolibrary.org/obo/CL_0000352 CL:0000353 biolink:Cell blastoderm cell An undifferentiated cell produced by early cleavages of the fertilized egg (zygote). FMA:72551|BTO:0001473 hp.json blastomere http://purl.obolibrary.org/obo/CL_0000353 CL:0000354 biolink:Cell blastemal cell ncithesaurus:Blastemal_Cell hp.json blastema cell http://purl.obolibrary.org/obo/CL_0000354 CL:0000355 biolink:Cell multi-potent skeletal muscle stem cell A multifate stem cell found in skeletal muscle than can differentiate into many different cell types, including muscle. Distinct cell type from satellite cell. FMA:86767 hp.json http://purl.obolibrary.org/obo/CL_0000355 CL:0000357 biolink:Cell stratified epithelial stem cell hp.json http://purl.obolibrary.org/obo/CL_0000357 HP:0034173 biolink:PhenotypicFeature Abnormal circulating interleukin 27 concentration Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034173 HP:0034172 biolink:PhenotypicFeature Increased circulating interleukin 23 concentration An abnormally increased concentration of interleukin 23 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034172 HP:0034175 biolink:PhenotypicFeature Increased circulating interleukin 27 concentration An abnormally increased concentration of interleukin 27 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034175 HP:0034174 biolink:PhenotypicFeature Reduced circulating interleukin 27 concentration An abnormally decreased concentration of interleukin 27 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034174 HP:0034171 biolink:PhenotypicFeature Reduced circulating interleukin 23 concentration An abnormally decreased concentration of interleukin 23 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034171 HP:0034170 biolink:PhenotypicFeature Abnormal circulating interleukin 23 concentration Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034170 CL:0000325 biolink:Cell stuff accumulating cell A cell that is specialised to accumulate a particular substance(s). hp.json http://purl.obolibrary.org/obo/CL_0000325 _upper_level GO:1902217 biolink:BiologicalProcess erythrocyte apoptotic process Any apoptotic process in an erythrocyte. hp.json erythrocyte apoptosis|RBC apoptosis|red blood cell apoptotic process|RBC apoptotic process|red blood cell apoptosis http://purl.obolibrary.org/obo/GO_1902217 CL:0000327 biolink:Cell extracellular matrix secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000327 CL:0000328 biolink:Cell myelin accumulating cell hp.json http://purl.obolibrary.org/obo/CL_0000328 CL:0000329 biolink:Cell oxygen accumulating cell hp.json http://purl.obolibrary.org/obo/CL_0000329 HP:0034177 biolink:PhenotypicFeature Reduced circulating interleukin 17A concentration An abnormally decreased concentration of interleukin 17A in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034177 HP:0034176 biolink:PhenotypicFeature Abnormal circulating interleukin 17A concentration Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034176 HP:0034179 biolink:PhenotypicFeature Vertebral artery aneurysm Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery . hp.json http://purl.obolibrary.org/obo/HP_0034179 HP:0034178 biolink:PhenotypicFeature Increased circulating interleukin 17A concentration An abnormally increased concentration of interleukin 17A in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034178 CL:0000322 biolink:Cell pneumocyte An epithelial cell that lines the peripheral gas exchange region of the lungs of air-breathing vertebrates. CALOHA:TS-2168|FMA:62499|BTO:0000395 hp.json alveolar epithelial cell|pneumonocyte http://purl.obolibrary.org/obo/CL_0000322 HP:0034184 biolink:PhenotypicFeature Increased insulin like growth factor binding protein acid labile subunit concentration An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation. hp.json Increased circulating IGFALS contration http://purl.obolibrary.org/obo/HP_0034184 HP:0034183 biolink:PhenotypicFeature Spastic triplegia Spastic weakness found in both lower extremities and one upper extremity. hp.json http://purl.obolibrary.org/obo/HP_0034183 HP:0034186 biolink:PhenotypicFeature Patella alta Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea. hp.json http://purl.obolibrary.org/obo/HP_0034186 HP:0034185 biolink:PhenotypicFeature Median pseudocleft lip A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline. hp.json http://purl.obolibrary.org/obo/HP_0034185 HP:0034180 biolink:PhenotypicFeature Fusion of the caudate and putamen Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule. hp.json http://purl.obolibrary.org/obo/HP_0034180 HP:0034182 biolink:PhenotypicFeature Segmental hypoplasia of liver Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging. hp.json http://purl.obolibrary.org/obo/HP_0034182 HP:0034181 biolink:PhenotypicFeature Aplasia/Hypoplasia of the liver Absence or underdevelopment of the liver. hp.json http://purl.obolibrary.org/obo/HP_0034181 CL:0000336 biolink:Cell adrenal medulla chromaffin cell A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation. FMA:69262 hp.json medullary chromaffin cell of adrenal gland http://purl.obolibrary.org/obo/CL_0000336 GO:1904888 biolink:BiologicalProcess cranial skeletal system development The process whose specific outcome is the progression of a cranial skeletal system over time, from its formation to the mature structure. The cranial skeletal system is the skeletal subdivision of the head, and includes the skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. hp.json cranial skeleton development|craniofacial development|osteocranium development|cranium development http://purl.obolibrary.org/obo/GO_1904888 CL:0000339 biolink:Cell glioblast (sensu Vertebrata) An early neural cell developing from the early ependymal cell of the neural tube. FMA:70564 hp.json spongioblast http://purl.obolibrary.org/obo/CL_0000339 HP:0034188 biolink:PhenotypicFeature Midline liver Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach. hp.json http://purl.obolibrary.org/obo/HP_0034188 GO:1902224 biolink:BiologicalProcess ketone body metabolic process The chemical reactions and pathways involving ketone body. hp.json ketone body metabolism http://purl.obolibrary.org/obo/GO_1902224 HP:0034187 biolink:PhenotypicFeature Clavicular pseudarthrosis A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint). hp.json http://purl.obolibrary.org/obo/HP_0034187 GO:1902221 biolink:BiologicalProcess erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process The chemical reactions and pathways involving erythrose 4-phosphate/phosphoenolpyruvate family amino acid. hp.json erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolism http://purl.obolibrary.org/obo/GO_1902221 HP:0034189 biolink:PhenotypicFeature Anti-thyroid-stimulating hormone receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone. hp.json TRAbs|Anti-TSH receptor antibody positivity http://purl.obolibrary.org/obo/HP_0034189 CL:0000333 biolink:Cell migratory neural crest cell A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. FMA:86667 hp.json http://purl.obolibrary.org/obo/CL_0000333 CL:0000335 biolink:Cell mesenchyme condensation cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. hp.json http://purl.obolibrary.org/obo/CL_0000335 HP:0034195 biolink:PhenotypicFeature Triggered by muscle relaxant Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium. hp.json http://purl.obolibrary.org/obo/HP_0034195 HP:0034194 biolink:PhenotypicFeature Suprabasal cleavage Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells. hp.json Blistering with suprabasal clefting http://purl.obolibrary.org/obo/HP_0034194 HP:0034197 biolink:PhenotypicFeature Third trimester onset This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. hp.json http://purl.obolibrary.org/obo/HP_0034197 HP:0034196 biolink:PhenotypicFeature Ductus venosus agenesis A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation). hp.json Agenesis of the ductus venosus http://purl.obolibrary.org/obo/HP_0034196 HP:0034191 biolink:PhenotypicFeature Elevated fetal middle cerebral artery peak systolic velocity Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound. hp.json http://purl.obolibrary.org/obo/HP_0034191 HP:0034190 biolink:PhenotypicFeature Abnormal fetal cardiovascular physiology Abnormal functionality of the fetal cardiovascular system. hp.json http://purl.obolibrary.org/obo/HP_0034190 HP:0034193 biolink:PhenotypicFeature Stratum basale cleavage Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis. hp.json Blistering with cleavage within basal keratinocytes|Cleavage within the basal keratinocyte layer http://purl.obolibrary.org/obo/HP_0034193 HP:0034192 biolink:PhenotypicFeature Pulmonary thromboembolism Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung. hp.json http://purl.obolibrary.org/obo/HP_0034192 CL:0000306 biolink:Cell crystallin accumulating cell FBbt:00004193 hp.json lens cell http://purl.obolibrary.org/obo/CL_0000306 HP:0034199 biolink:PhenotypicFeature Late first trimester onset This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive). hp.json Early fetal onset http://purl.obolibrary.org/obo/HP_0034199 HP:0034198 biolink:PhenotypicFeature Second trimester onset This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). hp.json http://purl.obolibrary.org/obo/HP_0034198 CL:0000300 biolink:Cell gamete A mature sexual reproductive cell having a single set of unpaired chromosomes. CALOHA:TS-0395|FBbt:00005412|FMA:18649 hp.json haploid germ cell|haploid nucleated cell http://purl.obolibrary.org/obo/CL_0000300 CL:0000319 biolink:Cell mucus secreting cell BTO:0003689 hp.json mucous cell http://purl.obolibrary.org/obo/CL_0000319 GO:1902252 biolink:BiologicalProcess positive regulation of erythrocyte apoptotic process Any process that activates or increases the frequency, rate or extent of erythrocyte apoptotic process. hp.json up-regulation of red blood cell apoptosis|up regulation of erythrocyte apoptosis|positive regulation of red blood cell apoptotic process|up regulation of RBC apoptosis|positive regulation of erythrocyte apoptosis|positive regulation of RBC apoptosis|up-regulation of erythrocyte apoptotic process|up regulation of red blood cell apoptotic process|up-regulation of RBC apoptotic process|up-regulation of red blood cell apoptotic process|activation of red blood cell apoptotic process|upregulation of erythrocyte apoptosis|up regulation of erythrocyte apoptotic process|activation of red blood cell apoptosis|activation of erythrocyte apoptosis|activation of erythrocyte apoptotic process|up regulation of RBC apoptotic process|upregulation of RBC apoptosis|upregulation of red blood cell apoptosis|activation of RBC apoptotic process|activation of RBC apoptosis|positive regulation of RBC apoptotic process|positive regulation of red blood cell apoptosis|upregulation of erythrocyte apoptotic process|upregulation of RBC apoptotic process|upregulation of red blood cell apoptotic process|up regulation of red blood cell apoptosis|up-regulation of erythrocyte apoptosis|up-regulation of RBC apoptosis http://purl.obolibrary.org/obo/GO_1902252 GO:1902250 biolink:BiologicalProcess regulation of erythrocyte apoptotic process Any process that modulates the frequency, rate or extent of erythrocyte apoptotic process. hp.json regulation of red blood cell apoptosis|regulation of RBC apoptotic process|regulation of red blood cell apoptotic process|regulation of erythrocyte apoptosis|regulation of RBC apoptosis http://purl.obolibrary.org/obo/GO_1902250 GO:1902251 biolink:BiologicalProcess negative regulation of erythrocyte apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of erythrocyte apoptotic process. hp.json downregulation of red blood cell apoptosis|downregulation of erythrocyte apoptotic process|inhibition of erythrocyte apoptotic process|inhibition of erythrocyte apoptosis|inhibition of RBC apoptosis|downregulation of RBC apoptotic process|inhibition of RBC apoptotic process|down regulation of red blood cell apoptosis|downregulation of red blood cell apoptotic process|down-regulation of erythrocyte apoptosis|negative regulation of erythrocyte apoptosis|negative regulation of red blood cell apoptosis|down-regulation of RBC apoptosis|down-regulation of red blood cell apoptosis|negative regulation of RBC apoptosis|down regulation of erythrocyte apoptosis|down regulation of red blood cell apoptotic process|down regulation of RBC apoptosis|inhibition of red blood cell apoptotic process|down-regulation of erythrocyte apoptotic process|inhibition of red blood cell apoptosis|negative regulation of RBC apoptotic process|negative regulation of red blood cell apoptotic process|down-regulation of red blood cell apoptotic process|down-regulation of RBC apoptotic process|downregulation of erythrocyte apoptosis|down regulation of erythrocyte apoptotic process|downregulation of RBC apoptosis|down regulation of RBC apoptotic process http://purl.obolibrary.org/obo/GO_1902251 CL:0000311 biolink:Cell keratin accumulating cell hp.json http://purl.obolibrary.org/obo/CL_0000311 CL:0000312 biolink:Cell keratinocyte An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell. FMA:62879|BTO:0000667|CALOHA:TS-0500 hp.json malpighian cell|keratinized cell of epidermis http://purl.obolibrary.org/obo/CL_0000312 CL:0000313 biolink:Cell serous secreting cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. FMA:62511|BTO:0003687 hp.json serous cell http://purl.obolibrary.org/obo/CL_0000313 HP:0010162 biolink:PhenotypicFeature Absent epiphyses of the toes Absence of the epiphyses of the phalanges of the toes. UMLS:C4023997 hp.json Absent end part of the toe bones http://purl.obolibrary.org/obo/HP_0010162 HP:0009173 biolink:PhenotypicFeature Curved middle phalanx of the 5th finger Curved appearance of the middle phalanx of the 5th finger. UMLS:C4024557 hp.json Curved middle bone of pinky finger|Curved middle bone of pinkie finger|Curved middle bone of little finger http://purl.obolibrary.org/obo/HP_0009173 HP:0010161 biolink:PhenotypicFeature Abnormality of the phalanges of the toes UMLS:C4023998 hp.json Abnormality of the long bones of the toes http://purl.obolibrary.org/obo/HP_0010161 HP:0009172 biolink:PhenotypicFeature Abnormal 4th finger phalanx morphology Abnormality of the phalanges of the 4th (ring) finger. UMLS:C4021516 hp.json Abnormality of the phalanges of the ring finger|Abnormal bones of 4th finger http://purl.obolibrary.org/obo/HP_0009172 HP:0010160 biolink:PhenotypicFeature Abnormality of the epiphyses of the toes UMLS:C4023999 hp.json Abnormality of the end part of the toe bones http://purl.obolibrary.org/obo/HP_0010160 HP:0034131 biolink:PhenotypicFeature Anti-GT1b antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside. hp.json http://purl.obolibrary.org/obo/HP_0034131 HP:0009175 biolink:PhenotypicFeature Patchy sclerosis of the middle phalanx of the 5th finger Patchy increase in bone density of the middle phalanx of the 5th finger. UMLS:C4024555 hp.json Uneven increase in bone density in the middle bone of the pinkie finger|Uneven increase in bone density in the middle bone of the pinky finger|Uneven increase in bone density in the middle bone of the little finger http://purl.obolibrary.org/obo/HP_0009175 HP:0034130 biolink:PhenotypicFeature Anti-GT1a IgG antibody positivity The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. hp.json http://purl.obolibrary.org/obo/HP_0034130 HP:0009174 biolink:PhenotypicFeature Abnormality of the epiphyses of the 4th finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger. UMLS:C4024556 hp.json Abnormality of the end part of the ring finger http://purl.obolibrary.org/obo/HP_0009174 HP:0009171 biolink:PhenotypicFeature Triangular epiphyses of the metacarpals A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals. UMLS:C4024558 hp.json Triangular end part of the long bone of hand http://purl.obolibrary.org/obo/HP_0009171 HP:0009170 biolink:PhenotypicFeature Osteolytic defects of the middle phalanx of the 5th finger Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger. UMLS:C4024559 hp.json http://purl.obolibrary.org/obo/HP_0009170 HP:0034137 biolink:PhenotypicFeature Anti-contactin-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1. hp.json Anti-CNTN1 antibody positivity http://purl.obolibrary.org/obo/HP_0034137 HP:0010169 biolink:PhenotypicFeature Pseudoepiphyses of the toes UMLS:C4023990 hp.json http://purl.obolibrary.org/obo/HP_0010169 HP:0034136 biolink:PhenotypicFeature Anti-neurofascin 186 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186. hp.json Anti-NF186 antibody positivity http://purl.obolibrary.org/obo/HP_0034136 HP:0010168 biolink:PhenotypicFeature Ivory epiphyses of the toes UMLS:C4023991 hp.json Increased bone density of end part of the toes http://purl.obolibrary.org/obo/HP_0010168 HP:0034139 biolink:PhenotypicFeature Anti-SUMO-activating enzyme antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE. hp.json Anti-SAE antibody positivity|Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity http://purl.obolibrary.org/obo/HP_0034139 HP:0034138 biolink:PhenotypicFeature Anti-contactin-associated protein 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1. hp.json Anti-CASPR1 antibody positivity http://purl.obolibrary.org/obo/HP_0034138 HP:0010167 biolink:PhenotypicFeature Irregular epiphyses of the toes UMLS:C4023992 hp.json Irregular end part of the toe bones http://purl.obolibrary.org/obo/HP_0010167 HP:0010166 biolink:PhenotypicFeature Fragmentation of the epiphyses of the toes UMLS:C4023993 hp.json Fragmentation of the end part of the toe bones http://purl.obolibrary.org/obo/HP_0010166 HP:0034133 biolink:PhenotypicFeature Anti-GM3 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3. hp.json http://purl.obolibrary.org/obo/HP_0034133 HP:0010165 biolink:PhenotypicFeature Enlarged epiphyses of the toes UMLS:C4023994 hp.json Enlarged end part of the toe bones http://purl.obolibrary.org/obo/HP_0010165 HP:0034132 biolink:PhenotypicFeature Anti-GM2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2. hp.json http://purl.obolibrary.org/obo/HP_0034132 HP:0034135 biolink:PhenotypicFeature Anti-neurofascin-155 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155. hp.json Anti-NF155 antibody positivity http://purl.obolibrary.org/obo/HP_0034135 HP:0010164 biolink:PhenotypicFeature Cone-shaped epiphyses of the toes UMLS:C4023995 hp.json Cone-shaped end part of the toe bones http://purl.obolibrary.org/obo/HP_0010164 HP:0010163 biolink:PhenotypicFeature Bracket epiphyses of the toes UMLS:C4023996 hp.json Bracket shaped end part of the toe bones http://purl.obolibrary.org/obo/HP_0010163 HP:0034134 biolink:PhenotypicFeature Anti-GM4 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4. hp.json http://purl.obolibrary.org/obo/HP_0034134 HP:0009169 biolink:PhenotypicFeature Broad middle phalanx of the 5th finger Increased width of the middle phalanx of the 5th finger. UMLS:C4021517 hp.json Broad middle bone of pinky finger|Broad middle bone of pinkie finger|Broad middle bone of little finger|Wide middle phalanx of the 5th finger http://purl.obolibrary.org/obo/HP_0009169 HP:0009166 biolink:PhenotypicFeature Fragmentation of the epiphysis of the distal phalanx of the 5th finger Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger. UMLS:C4024562 hp.json Fragmentation of end part of the outermost bone of pinky finger|Fragmentation of end part of the outermost bone of pinkie finger|Fragmentation of end part of the outermost bone of little finger http://purl.obolibrary.org/obo/HP_0009166 HP:0009165 biolink:PhenotypicFeature Stippling of the epiphysis of the distal phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger. UMLS:C4024563 hp.json Speckled calcifications in end part of the outermost bone of pinky finger|Speckled calcifications in end part of the outermost bone of pinkie finger|Speckled calcifications in end part of the outermost bone of little finger http://purl.obolibrary.org/obo/HP_0009165 HP:0009168 biolink:PhenotypicFeature Bullet-shaped middle phalanx of the 5th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected. UMLS:C4024560 hp.json Bullet-shaped middle pinkie finger bone|Bullet-shaped middle pinky finger bone|Bullet-shaped middle little finger bone http://purl.obolibrary.org/obo/HP_0009168 HP:0009167 biolink:PhenotypicFeature Irregular epiphysis of the distal phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger. UMLS:C4024561 hp.json Irregular end part of the outermost bone of pinky finger|Irregular end part of the outermost bone of pinkie finger|Irregular end part of the outermost bone of little finger http://purl.obolibrary.org/obo/HP_0009167 HP:0010151 biolink:PhenotypicFeature Cone-shaped epiphysis of the 1st metatarsal A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot. UMLS:C4024008 hp.json Cone-shaped end part of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010151 HP:0034140 biolink:PhenotypicFeature Anti-SUMO-activating enzyme subunit 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1. hp.json http://purl.obolibrary.org/obo/HP_0034140 UBERON:0010090 biolink:AnatomicalEntity future falx cerebri A developing anatomical structure that has the potential to develop into a falx cerebri. EHDAA2:0000608 hp.json http://purl.obolibrary.org/obo/UBERON_0010090 HP:0009184 biolink:PhenotypicFeature Contracture of the distal interphalangeal joint of the 5th finger Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue. UMLS:C4024551 hp.json http://purl.obolibrary.org/obo/HP_0009184 HP:0009183 biolink:PhenotypicFeature Joint contracture of the 5th finger Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. UMLS:C1865702 hp.json Fifth finger camptodactyly|5th finger camptodactyly http://purl.obolibrary.org/obo/HP_0009183 HP:0010150 biolink:PhenotypicFeature Bracket epiphysis of the 1st metatarsal The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form. UMLS:C4024009 hp.json Bracket shaped end part of 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010150 UBERON:0010091 biolink:AnatomicalEntity future hindbrain meninx A multi-tissue structure that has the potential to develop into a meninx of hindbrain. EHDAA2:0000610 hp.json future hindbrain meninges http://purl.obolibrary.org/obo/UBERON_0010091 HP:0034142 biolink:PhenotypicFeature Anti-nuclear matrix protein-2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2. hp.json Anti-MJ/NXP-2 antibody positivity|Anti-NXP-2 antibody positivity http://purl.obolibrary.org/obo/HP_0034142 HP:0009186 biolink:PhenotypicFeature Contracture of the metacarpophalangeal joint of the 5th finger Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue. UMLS:C4024550 hp.json http://purl.obolibrary.org/obo/HP_0009186 HP:0009185 biolink:PhenotypicFeature Contracture of the proximal interphalangeal joint of the 5th finger Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. UMLS:C3554612 hp.json http://purl.obolibrary.org/obo/HP_0009185 HP:0034141 biolink:PhenotypicFeature Anti-SUMO-activating enzyme subunit 2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2. hp.json Anti-SAE 2 antibody positivity http://purl.obolibrary.org/obo/HP_0034141 HP:0009180 biolink:PhenotypicFeature Ulnar deviation of the 5th finger Displacement of the 5th finger towards the ulnar side. UMLS:C4024553 hp.json http://purl.obolibrary.org/obo/HP_0009180 HP:0009182 biolink:PhenotypicFeature Triangular shaped middle phalanx of the 5th finger Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024552 hp.json Triangular shaped middle little finger bone|Triangular shaped middle pinky finger bone|Triangular shaped middle pinkie finger bone http://purl.obolibrary.org/obo/HP_0009182 UBERON:0010092 biolink:AnatomicalEntity future metencephalon A developing anatomical structure that has the potential to develop into a metencephalon. EHDAA2:0000623 hp.json http://purl.obolibrary.org/obo/UBERON_0010092 HP:0010159 biolink:PhenotypicFeature Triangular epiphysis of the 1st metatarsal UMLS:C4024000 hp.json Triangular end part of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010159 HP:0034148 biolink:PhenotypicFeature Anti-isoleucyl tRNA-synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase. hp.json Anti-OJ antibody positivity http://purl.obolibrary.org/obo/HP_0034148 HP:0010158 biolink:PhenotypicFeature Stippling of the epiphysis of the 1st metatarsal UMLS:C4024001 hp.json Speckled calcifications in the end part of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010158 HP:0034147 biolink:PhenotypicFeature Anti-aminoacyl-tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme. hp.json http://purl.obolibrary.org/obo/HP_0034147 HP:0010157 biolink:PhenotypicFeature Small epiphysis of the 1st metatarsal UMLS:C4024002 hp.json Small end part of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010157 UBERON:0010096 biolink:AnatomicalEntity future myelencephalon A developing anatomical structure that has the potential to develop into a myelencephalon. EHDAA2:0000640 hp.json http://purl.obolibrary.org/obo/UBERON_0010096 HP:0010156 biolink:PhenotypicFeature Pseudoepiphysis of the 1st metatarsal UMLS:C4024003 hp.json http://purl.obolibrary.org/obo/HP_0010156 HP:0034149 biolink:PhenotypicFeature Anti-phenylalanyl tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase. hp.json Phenylanyl-t-RNA synthetase alpha antibody positivity|Anti-Zo antibody positivity|Anti-Zo alpha antibody positivity http://purl.obolibrary.org/obo/HP_0034149 HP:0010155 biolink:PhenotypicFeature Ivory epiphysis of the 1st metatarsal The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. UMLS:C4024004 hp.json Increased bone density of end part of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010155 HP:0034144 biolink:PhenotypicFeature Anti-hY-RNA complex antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60. hp.json Anti-Ro60 antibody positivity http://purl.obolibrary.org/obo/HP_0034144 CHEBI:64554 biolink:ChemicalSubstance tryptophan zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of tryptophan; major species at pH 7.3. hp.json 2-azaniumyl-3-(1H-indol-3-yl)propanoate|2-ammonio-3-(1H-indol-3-yl)propanoate http://purl.obolibrary.org/obo/CHEBI_64554 3_STAR HP:0034143 biolink:PhenotypicFeature Anti-threonyl-tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase. hp.json Anti-PL-7 antibody positivity http://purl.obolibrary.org/obo/HP_0034143 HP:0010154 biolink:PhenotypicFeature Irregular epiphysis of the 1st metatarsal UMLS:C4024005 hp.json Irregular end part of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010154 HP:0010153 biolink:PhenotypicFeature Fragmentation of the epiphysis of the 1st metatarsal UMLS:C4024006 hp.json Fragmentation of the end part of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010153 HP:0034146 biolink:PhenotypicFeature Anti-glycyl tRNA-synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase. hp.json Anti-EJ antibody positivity http://purl.obolibrary.org/obo/HP_0034146 HP:0034145 biolink:PhenotypicFeature Anti-alanyl-tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase. hp.json Anti-PL-12 antibody positivity http://purl.obolibrary.org/obo/HP_0034145 HP:0010152 biolink:PhenotypicFeature Enlarged epiphysis of the 1st metatarsal UMLS:C4024007 hp.json Enlarged end part of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010152 CHEBI:64558 biolink:ChemicalSubstance methionine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of methionine; major species at pH 7.3. hp.json methionine|2-ammonio-4-(methylsulfanyl)butanoate|2-azaniumyl-4-(methylsulfanyl)butanoate http://purl.obolibrary.org/obo/CHEBI_64558 3_STAR HP:0009177 biolink:PhenotypicFeature Proximal/middle symphalangism of 5th finger Fusion of the proximal and middle phalanges of the 5th finger. UMLS:C1836212 hp.json Proximal fifth finger symphalangism|Proximal 5th finger symphalangism|Fused innermost and middle bones of pinky finger|Symphalangism of the proximal and middle phalanges of the 5th finger|Fused innermost and middle bones of pinkie finger|Fused innermost and middle bones of little finger http://purl.obolibrary.org/obo/HP_0009177 HP:0009179 biolink:PhenotypicFeature Deviation of the 5th finger Displacement of the 5th finger from its normal position. UMLS:C4021515 hp.json Displaced pinkie finger|Displaced little finger|Displaced pinky finger|Laterally displaced fifth finger http://purl.obolibrary.org/obo/HP_0009179 HP:0009178 biolink:PhenotypicFeature Symphalangism of middle phalanx of 5th finger Fusion of the middle phalanx of the 5th finger with another bone. UMLS:C4024554 hp.json Fused middle bones of pinky finger|Fused middle bones of pinkie finger|Fused middle bones of little finger http://purl.obolibrary.org/obo/HP_0009178 HP:0034151 biolink:PhenotypicFeature Anti-asparaginyl-tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase. hp.json Anti-KS antibody positivity http://purl.obolibrary.org/obo/HP_0034151 HP:0010140 biolink:PhenotypicFeature Cone-shaped epiphysis of the distal phalanx of the hallux UMLS:C4024019 hp.json Cone-shaped end part of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010140 HP:0034150 biolink:PhenotypicFeature Anti-tyrosyl-tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase. hp.json Anti-Ha antibody positivity http://purl.obolibrary.org/obo/HP_0034150 HP:0009150 biolink:PhenotypicFeature Abnormality of the proximal phalanx of the 5th finger Abnormality of the proximal phalanx of the little (5th) finger. UMLS:C4024570 hp.json Abnormality of the innermost bone pinkie finger|Abnormality of the innermost bone pinky finger|Abnormality of the innermost bone little finger http://purl.obolibrary.org/obo/HP_0009150 HP:0034153 biolink:PhenotypicFeature Anti-cytosolic-5-nucleotidase-1A antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A). hp.json Anti-cN1A antibody positivity http://purl.obolibrary.org/obo/HP_0034153 HP:0009153 biolink:PhenotypicFeature Abnormality of the epiphysis of the proximal phalanx of the 5th finger Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. UMLS:C4024568 hp.json Abnormality of end part of the innermost bone of pinkie finger|Abnormality of end part of the innermost bone of little finger|Abnormality of end part of the innermost bone of pinky finger http://purl.obolibrary.org/obo/HP_0009153 HP:0034152 biolink:PhenotypicFeature Anti-histidyl tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase. hp.json Anti-Jo-1 antibody positivity|Anti-JO1 antibody positivity http://purl.obolibrary.org/obo/HP_0034152 HP:0009152 biolink:PhenotypicFeature Abnormality of the epiphyses of the 5th finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger. UMLS:C4024569 hp.json Abnormality of end part of little finger bone|Abnormality of end part of pinky finger bone|Abnormality of end part of pinkie finger bone http://purl.obolibrary.org/obo/HP_0009152 UBERON:0010083 biolink:AnatomicalEntity future dermis Mesenchyme that has the potential to develop into a dermis. EHDAA2:0000598 hp.json http://purl.obolibrary.org/obo/UBERON_0010083 UBERON:0010084 biolink:AnatomicalEntity future diaphragm A structure that will develop into a diaphragm. EHDAA2:0000599 hp.json http://purl.obolibrary.org/obo/UBERON_0010084 UBERON:0010081 biolink:AnatomicalEntity future common hepatic duct An extrahepatic bile duct that has the potential to develop into a common hepatic duct. EHDAA2:0000595 hp.json http://purl.obolibrary.org/obo/UBERON_0010081 UBERON:0009097 biolink:AnatomicalEntity gravid organism An organism containing a developing embryo, fetus, or unborn offspring within the body. BTO:0004733 hp.json pregnant stage|gravid|pregnant organism|pregnant adult|pregnant adult stage http://purl.obolibrary.org/obo/UBERON_0009097 HP:0010148 biolink:PhenotypicFeature Triangular epiphysis of the distal phalanx of the hallux UMLS:C4024011 hp.json Triangular end part of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010148 HP:0034159 biolink:PhenotypicFeature Paget disease of bone A localized disorder of bone remodeling. Increased numbers of larger than normal osteoclasts initiate the process at affected skeletal sites, and the increase in bone resorption is followed by an increase in new bone formation, altering bone architecture. hp.json http://purl.obolibrary.org/obo/HP_0034159 HP:0010147 biolink:PhenotypicFeature Stippling of the epiphysis of the distal phalanx of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux. UMLS:C4024012 hp.json Speckled calcifications in the end part of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010147 HP:0034158 biolink:PhenotypicFeature Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions. hp.json Anti-PTPA antibody positivity http://purl.obolibrary.org/obo/HP_0034158 HP:0010146 biolink:PhenotypicFeature Small epiphysis of the distal phalanx of the hallux UMLS:C4024013 hp.json Small end part of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010146 HP:0010145 biolink:PhenotypicFeature Pseudoepiphysis of the distal phalanx of the hallux UMLS:C4024014 hp.json http://purl.obolibrary.org/obo/HP_0010145 HP:0034155 biolink:PhenotypicFeature Anti-sp100 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins. hp.json http://purl.obolibrary.org/obo/HP_0034155 HP:0010144 biolink:PhenotypicFeature Ivory epiphysis of the distal phalanx of the hallux UMLS:C4024015 hp.json Increased bone density of end part of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010144 HP:0010143 biolink:PhenotypicFeature Irregular epiphysis of the distal phalanx of the hallux UMLS:C4024016 hp.json Irregular end part of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010143 HP:0034154 biolink:PhenotypicFeature Anti-Ki antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki. hp.json http://purl.obolibrary.org/obo/HP_0034154 HP:0010142 biolink:PhenotypicFeature Fragmentation of the epiphysis of the distal phalanx of the hallux UMLS:C4024017 hp.json Fragmentation of the end part of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010142 HP:0034157 biolink:PhenotypicFeature Anti-beta-2-Glycoprotein I IgM antibody positivity Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. hp.json Anti-beta2GPI IgM antibody positivity http://purl.obolibrary.org/obo/HP_0034157 HP:0010141 biolink:PhenotypicFeature Enlarged epiphysis of the distal phalanx of the hallux UMLS:C4024018 hp.json Enlarged end part of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010141 HP:0034156 biolink:PhenotypicFeature Anti-beta-2-Glycoprotein I IgG antibody positivity Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. hp.json Anti-beta2GPI IgG antibody positivity http://purl.obolibrary.org/obo/HP_0034156 HP:0010149 biolink:PhenotypicFeature Absent epiphysis of the 1st metatarsal Failure to form (agenesis) of the epiphysis of the 1st metatarsal. UMLS:C4024010 hp.json Absent end part of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010149 HP:0009148 biolink:PhenotypicFeature Small epiphysis of the distal phalanx of the 5th finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. UMLS:C4024571 hp.json Small end part of the outermost bone of pinkie finger|Small end part of the outermost bone of pinky finger|Small end part of the outermost bone of little finger http://purl.obolibrary.org/obo/HP_0009148 UBERON:0009098 biolink:AnatomicalEntity gravid uterus The uterus in pregnancy. NCIT:C12406|UMLS:C1514389|ncithesaurus:Gravid_Uterus|SCTID:362253003 hp.json womb http://purl.obolibrary.org/obo/UBERON_0009098 HP:0009147 biolink:PhenotypicFeature Enlarged epiphysis of the distal phalanx of the 5th finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. UMLS:C4024572 hp.json Enlarged end part of the outermost bone of little finger|Enlarged end part of the outermost bone of pinky finger|Enlarged end part of the outermost bone of pinkie finger http://purl.obolibrary.org/obo/HP_0009147 HP:0009149 biolink:PhenotypicFeature Triangular epiphysis of the distal phalanx of the 5th finger A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4021519 hp.json Delta-shaped epiphysis of the distal phalanx of the 5th finger|Triangular end part of the outermost bone of pinkie finger|Triangular end part of the outermost bone of pinky finger|Triangular end part of the outermost bone of little finger http://purl.obolibrary.org/obo/HP_0009149 HP:0009144 biolink:PhenotypicFeature Supernumerary bones of the axial skeleton UMLS:C4024573 hp.json http://purl.obolibrary.org/obo/HP_0009144 HP:0009145 biolink:PhenotypicFeature Abnormal cerebral artery morphology Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. UMLS:C4021520 hp.json Abnormality of cerebral artery|Abnormality of the cerebral arteries http://purl.obolibrary.org/obo/HP_0009145 HP:0009162 biolink:PhenotypicFeature Absent middle phalanx of 5th finger Absence of the middle phalanx of the little (5th) finger. UMLS:C3277750 hp.json Absent middle bone of little finger|Aplasia of the middle phalanx of the 5th finger|Absent middle bone of pinky finger|Absent middle bone of pinkie finger http://purl.obolibrary.org/obo/HP_0009162 HP:0034162 biolink:PhenotypicFeature Abnormal circulating interleukin 10 concentration Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034162 HP:0012792 biolink:PhenotypicFeature Absent ossification of thoracic vertebral bodies A lack of bone mineralization of one or more body of thoracic vertebra. UMLS:C4022721 hp.json http://purl.obolibrary.org/obo/HP_0012792 HP:0009161 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle phalanx of the 5th finger Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. UMLS:C1834034 hp.json Absent/hypoplastic middle phalanx of 5th finger|Absent/underdeveloped middle bone of little finger|Absent/small middle bone of pinky finger|Absent/underdeveloped middle bone of pinky finger|Absent/underdeveloped middle bone of pinkie finger http://purl.obolibrary.org/obo/HP_0009161 HP:0012793 biolink:PhenotypicFeature Kinked brainstem A kinked appearance of the brainstem, i.e., an exaggerated flexure. UMLS:C4021068 hp.json Kinked brain stem http://purl.obolibrary.org/obo/HP_0012793 HP:0034161 biolink:PhenotypicFeature Reduced circulating interleukin 9 concentration An abnormally decreased concentration of interleukin 9 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034161 HP:0009164 biolink:PhenotypicFeature Abnormal calcification of the carpal bones UMLS:C1968592 hp.json Carpal calcifications|Abnormal calcification of the wrist bones http://purl.obolibrary.org/obo/HP_0009164 HP:0034164 biolink:PhenotypicFeature Abnormal circulating interleukin 21 concentration Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034164 HP:0012794 biolink:PhenotypicFeature Periventricular white matter hypodensities Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. UMLS:C4022720 hp.json Periventricular cerebral white matter hypodensities http://purl.obolibrary.org/obo/HP_0012794 HP:0034163 biolink:PhenotypicFeature Reduced circulating interleukin 10 concentration An abnormally decreased concentration of interleukin 10 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034163 HP:0012795 biolink:PhenotypicFeature Abnormal optic disc morphology A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. UMLS:C3808249 hp.json http://purl.obolibrary.org/obo/HP_0012795 HP:0009163 biolink:PhenotypicFeature obsolete Abnormal form of the 5th finger hp.json http://purl.obolibrary.org/obo/HP_0009163 HP:0012796 biolink:PhenotypicFeature Increased cup-to-disc ratio An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. UMLS:C3805911 hp.json Increased cup disc ratio|Elevated cup to disc ratio http://purl.obolibrary.org/obo/HP_0012796 HP:0012797 biolink:PhenotypicFeature Lymphatic vessel neoplasm A benign or malignant neoplasm arising from the lymphatic vessels. NCIT:C3262|UMLS:C0206619|MSH:D018190|SNOMEDCT_US:115236002 hp.json Lymphatic vessel tumor|Lymphatic vessel tumour http://purl.obolibrary.org/obo/HP_0012797 HP:0034160 biolink:PhenotypicFeature Abnormal circulating interleukin 9 concentration Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034160 UBERON:0010070 biolink:AnatomicalEntity intermediate layer of tympanic membrane The intermediate fibrous layer of the tympanic membrane. MA:0001223|EMAPA:19063|FMA:56830 hp.json fibrous layer of tympanic membrane|tympanic endothelium|intermediate fibrous layer of tympanic membrane|fibrous stratum of tympanic membrane|connective tissue layer of tympanic membrane http://purl.obolibrary.org/obo/UBERON_0010070 HP:0009160 biolink:PhenotypicFeature Absent epiphysis of the proximal phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger. UMLS:C4024564 hp.json Absent end part of the innermost bone of pinky finger|Absent end part of the innermost bone of pinkie finger|Absent end part of the innermost bone of little finger http://purl.obolibrary.org/obo/HP_0009160 HP:0012798 biolink:PhenotypicFeature Pulmonary lymphangiomyomatosis Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. UMLS:C0751674|UMLS:C0238399|MSH:D018192|SNOMEDCT_US:73017001 hp.json Pulmonary myomatosis|Lymphangioleiomyomatosis http://purl.obolibrary.org/obo/HP_0012798 HP:0012799 biolink:PhenotypicFeature Unilateral facial palsy One-sided weakness of the muscles of facial expression and eye closure. UMLS:C4022719|UMLS:C0239516 hp.json Unilateral facial muscle weakness|Paralysis of one side of the face|Unilateral facial muscle paralysis|Weakness of one side of the face|Facial droop|Unilateral facial weakness|Unilateral facial paralysis http://purl.obolibrary.org/obo/HP_0012799 UBERON:0010071 biolink:AnatomicalEntity layer of tympanic membrane FMA:56732 hp.json tympanic membrane layer http://purl.obolibrary.org/obo/UBERON_0010071 grouping_class UBERON:0010076 biolink:AnatomicalEntity network of trabecular spaces in bone tissue Tissue cavity consisting of intercommunicating trabecular spaces in the cancellous bone. FMA:259332 hp.json trabecular network of bone tissue|trabecular space network http://purl.obolibrary.org/obo/UBERON_0010076 HP:0010137 biolink:PhenotypicFeature Triangular epiphysis of the proximal phalanx of the hallux UMLS:C4024022 hp.json Triangular end part of the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010137 HP:0010136 biolink:PhenotypicFeature Stippling of the epiphysis of the proximal phalanx of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux. UMLS:C4024023 hp.json Speckled calcifications in the end part of the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010136 HP:0034169 biolink:PhenotypicFeature Increased circulating interleukin 22 concentration An abnormally increased concentration of interleukin 22 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034169 UBERON:0010077 biolink:AnatomicalEntity cuboidal epithelium An epithelium consisting of cuboidal epithelial cells. UMLS:C0682577|NCIT:C32415|Wikipedia:Cuboidal_epithelium hp.json http://purl.obolibrary.org/obo/UBERON_0010077 HP:0010135 biolink:PhenotypicFeature Small epiphysis of the proximal phalanx of the hallux UMLS:C4024024 hp.json Small end part of the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010135 UBERON:0010074 biolink:AnatomicalEntity chromaffin system Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. FMA:79645|MESH:D002838 hp.json argentaffin system|chromaffin tissue http://purl.obolibrary.org/obo/UBERON_0010074 CHEBI:64571 biolink:ChemicalSubstance NMDA receptor agonist An excitatory amino acid agonist which binds to NMDA receptors and triggers a response. hp.json NMDA receptor agonists|N-methyl-D-aspartate receptor agonist|NMDAR agonist|NMDAR agonists|N-methyl-D-aspartate receptor agonists http://purl.obolibrary.org/obo/CHEBI_64571 3_STAR CHEBI:64570 biolink:ChemicalSubstance EC 2.1.2.1 (glycine hydroxymethyltransferase) inhibitor An EC 2.1.2.* (hydroxymethyl-, formyl- and related transferases) inhibitor that interferes with the action of glycine hydroxymethyltransferase (EC 2.1.2.1). Wikipedia:Glycine_hydroxymethyltransferase hp.json threonine aldolase inhibitor|serine hydroxymethylase inhibitor|serine aldolase inhibitors|allothreonine aldolase inhibitor|5,10-methylenetetrahydrofolate:glycine hydroxymethyltransferase inhibitors|glycine hydroxymethyltransferase (EC 2.1.2.1) inhibitor|glycine hydroxymethyltransferase (EC 2.1.2.1) inhibitors|EC 2.1.2.1 (glycine hydroxymethyltransferase) inhibitors|5,10-methylenetetrahydrofolate:glycine hydroxymethyltransferase inhibitor|allothreonine aldolase inhibitors|serine aldolase inhibitor|threonine aldolase inhibitors|serine hydroxymethylase inhibitors|L-threonine aldolase inhibitors|serine transhydroxymethylase inhibitor|EC 2.1.2.1 inhibitor|L-serine hydroxymethyltransferase inhibitors|serine hydroxymethyltransferase inhibitor|glycine hydroxymethyltransferase inhibitors|L-serine hydroxymethyltransferase inhibitor|glycine hydroxymethyltransferase inhibitor|serine hydroxymethyltransferase inhibitors|EC 2.1.2.1 inhibitors|serine transhydroxymethylase inhibitors|L-threonine aldolase inhibitor http://purl.obolibrary.org/obo/CHEBI_64570 3_STAR UBERON:0010075 biolink:AnatomicalEntity sacral neural crest One of the 5 distinct and partially overlapping functional domains of the premigratory neural crest. The vagal and sacral neural crest cells develop into the ganglia of the enteric nervous system, also known as the parasympathetic ganglia. XAO:0004192 hp.json http://purl.obolibrary.org/obo/UBERON_0010075 HP:0010134 biolink:PhenotypicFeature Pseudoepiphysis of the proximal phalanx of the hallux A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe. UMLS:C4024025 hp.json http://purl.obolibrary.org/obo/HP_0010134 CHEBI:64577 biolink:ChemicalSubstance flour treatment agent A food additive which is added to flour or dough to improve baking quality and/or colour. Wikipedia:Flour_treatment_agent hp.json dough improver|improving agent|improving agents|flour treatment agent|dough improvers http://purl.obolibrary.org/obo/CHEBI_64577 3_STAR HP:0034166 biolink:PhenotypicFeature Increased circulating interleukin 21 concentration An abnormally increased concentration of interleukin 21 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034166 HP:0010133 biolink:PhenotypicFeature Ivory epiphysis of the proximal phalanx of the hallux UMLS:C4024026 hp.json Increased bone density of end part of the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010133 HP:0034165 biolink:PhenotypicFeature Reduced circulating interleukin 21 concentration An abnormally decreased concentration of interleukin 21 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034165 HP:0010132 biolink:PhenotypicFeature Irregular epiphysis of the proximal phalanx of the hallux UMLS:C4024027 hp.json Irregular end part of the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010132 HP:0034168 biolink:PhenotypicFeature Reduced circulating interleukin 22 concentration An abnormally decreased concentration of interleukin 22 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034168 HP:0010131 biolink:PhenotypicFeature Fragmentation of the epiphysis of the proximal phalanx of the hallux UMLS:C4024028 hp.json Fragmentation of the end part of the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010131 HP:0012790 biolink:PhenotypicFeature Abnormal intramembranous ossification An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. UMLS:C4021069 hp.json Abnormal intramembranous bone ossification http://purl.obolibrary.org/obo/HP_0012790 HP:0012791 biolink:PhenotypicFeature Abnormal humeral ossification An anomaly of the process of formation of bone in the humerus. UMLS:C4022722 hp.json Abnormal maturation of long bone in upper arm http://purl.obolibrary.org/obo/HP_0012791 HP:0034167 biolink:PhenotypicFeature Abnormal circulating interleukin 22 concentration Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034167 HP:0010130 biolink:PhenotypicFeature Enlarged epiphysis of the proximal phalanx of the hallux UMLS:C4024029 hp.json Enlarged end part of the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010130 HP:0010139 biolink:PhenotypicFeature Bracket epiphysis of the distal phalanx of the hallux The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. UMLS:C4024020 hp.json Bracket shaped end part of the outermost bone of big toe http://purl.obolibrary.org/obo/HP_0010139 HP:0010138 biolink:PhenotypicFeature Absent epiphysis of the distal phalanx of the hallux Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux. UMLS:C4024021 hp.json Absent end part of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010138 HP:0009159 biolink:PhenotypicFeature Small epiphysis of the proximal phalanx of the 5th finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. UMLS:C4024565 hp.json Small end part of the innermost bone of little finger|Small end part of the innermost bone of pinky finger|Small end part of the innermost bone of pinkie finger http://purl.obolibrary.org/obo/HP_0009159 HP:0009158 biolink:PhenotypicFeature Enlarged epiphysis of the proximal phalanx of the 5th finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. UMLS:C4024566 hp.json Enlarged end part of the innermost bone of pinky finger|Enlarged end part of the innermost bone of pinkie finger|Enlarged end part of the innermost bone of little finger http://purl.obolibrary.org/obo/HP_0009158 HP:0009155 biolink:PhenotypicFeature Cone-shaped epiphysis of the proximal phalanx of the 5th finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4020784|UMLS:C4020783 hp.json Cone-shaped end part of the innermost bone of pinkie finger|Cone-shaped end part of the innermost bone of pinky finger|Angel-shaped epiphysis of the proximal phalanx of the 5th finger|Cone-shaped end part of the innermost bone of little finger|Cone-shaped epiphysis of the proximal phalanx of the little finger http://purl.obolibrary.org/obo/HP_0009155 HP:0009154 biolink:PhenotypicFeature Triangular epiphysis of the proximal phalanx of the 5th finger A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4021518 hp.json Triangular end part of the innermost bone of little finger|Triangular end part of the innermost bone of pinky finger|Delta-shaped epiphysis of the proximal phalanx of the 5th finger|Triangular end part of the innermost bone of pinkie finger http://purl.obolibrary.org/obo/HP_0009154 HP:0009157 biolink:PhenotypicFeature Ivory epiphysis of the proximal phalanx of the 5th finger Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024567|UMLS:C4020782 hp.json Ivory epiphysis of the proximal phalanx of the little finger|Increased bone density of end part of the innermost bone of pinkie finger|Increased bone density of end part of the innermost bone of pinky finger|Increased bone density of end part of the innermost bone of little finger http://purl.obolibrary.org/obo/HP_0009157 UBERON:6000002 biolink:AnatomicalEntity arthropod tagma One of the main divisions of the whole organism of arthropods formed from groups of segments. FBbt:00000002 hp.json http://purl.obolibrary.org/obo/UBERON_6000002 CHEBI:64584 biolink:ChemicalSubstance uremic toxin A toxin that accumulates in patients with chronic kidney disease. Wikipedia:Uremic_toxin hp.json uremic toxins http://purl.obolibrary.org/obo/CHEBI_64584 3_STAR CHEBI:64583 biolink:ChemicalSubstance sphingomyelin hp.json http://purl.obolibrary.org/obo/CHEBI_64583 CHEBI:64588 biolink:ChemicalSubstance glycine transporter 1 inhibitor Any glycine transporter inhibitor that interferes with the action of glycine 1 transporters. PMID:21141920|PMID:18758757|PMID:17504107|PMID:20678516|PMID:21531289|Wikipedia:Glycine_transporter_1|PMID:22177408 hp.json GlyT1 inhibitor|GlyT1 inhibitors|glycine transporter 1 inhibitors http://purl.obolibrary.org/obo/CHEBI_64588 3_STAR UBERON:6000004 biolink:AnatomicalEntity panarthropod head FBbt:00000004 hp.json http://purl.obolibrary.org/obo/UBERON_6000004 CHEBI:64589 biolink:ChemicalSubstance glycine receptor agonist An agonist that binds to and activates glycine receptors hp.json glycine receptor agonists http://purl.obolibrary.org/obo/CHEBI_64589 3_STAR HP:0010195 biolink:PhenotypicFeature Broad middle phalanges of the toes UMLS:C4023975 hp.json Broad middle bones of the toes http://purl.obolibrary.org/obo/HP_0010195 HP:0010194 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle phalanges of the toes UMLS:C4023976 hp.json Absent/underdeveloped middle bones of toe|Absent/small middle bones of toe http://purl.obolibrary.org/obo/HP_0010194 CHEBI:76579 biolink:ChemicalSubstance triradylglycerol A glycerol compound having one of three possible substituent groups - either acyl, alkyl, or alk-1-enyl - at each of the three possible positions sn-1, sn-2 or sn-3. has functional parent glycerol (CHEBI:17754), children: triglyceride (CHEBI:17855). Parent: is_a glycerolipid (CHEBI:35741) LIPID_MAPS_class:LMGL0301 hp.json triradylglycerols http://purl.obolibrary.org/obo/CHEBI_76579 2_STAR HP:0010193 biolink:PhenotypicFeature Duplication of distal phalanx of toe A partial or complete duplication of one or more distal phalanx of toe. UMLS:C4021322 hp.json Duplication of outermost bone of toe|Partial/complete duplication of the distal phalanges of the toes http://purl.obolibrary.org/obo/HP_0010193 HP:0010192 biolink:PhenotypicFeature Triangular shaped distal phalanges of the toes UMLS:C4023977 hp.json Triangular shaped outermost bone of the toes http://purl.obolibrary.org/obo/HP_0010192 HP:0010191 biolink:PhenotypicFeature Symphalangism affecting the distal phalanges of the toes UMLS:C4023978 hp.json Fused outermost bones of toes http://purl.obolibrary.org/obo/HP_0010191 HP:0010190 biolink:PhenotypicFeature Patchy sclerosis of distal toe phalanx Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4021323 hp.json Patchy sclerosis of the distal phalanges of the toes|Uneven increase in bone density in outermost toe bone http://purl.obolibrary.org/obo/HP_0010190 HP:0034104 biolink:PhenotypicFeature Anti-neutrophil elastase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase. hp.json http://purl.obolibrary.org/obo/HP_0034104 HP:0034103 biolink:PhenotypicFeature Anti-GM1 antibody positivity Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury hp.json Anti-ganglioside-monosialic acid antibody positivity http://purl.obolibrary.org/obo/HP_0034103 HP:0034106 biolink:PhenotypicFeature Anti-Su antigen/argonaute 2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2. hp.json Anti-Su antibody positivity|Anti-Ago2 antibody positivity http://purl.obolibrary.org/obo/HP_0034106 HP:0034105 biolink:PhenotypicFeature Anti-transcription intermediary factor-1gamma antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma. hp.json Anti-TIF1-gamma antibody positivity|Anti-TIF-1gamma antibody positivity http://purl.obolibrary.org/obo/HP_0034105 HP:0034100 biolink:PhenotypicFeature Anti-phosphatidyl serine antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine. hp.json http://purl.obolibrary.org/obo/HP_0034100 HP:0010199 biolink:PhenotypicFeature Patchy sclerosis of middle toe phalanx Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4021319 hp.json Uneven increase in bone density in middle toe bone|Patchy sclerosis of the middle phalanges of the toes http://purl.obolibrary.org/obo/HP_0010199 HP:0010198 biolink:PhenotypicFeature Osteolytic defects of the middle phalanges of the toes UMLS:C4023974 hp.json http://purl.obolibrary.org/obo/HP_0010198 HP:0010197 biolink:PhenotypicFeature Curved middle toe phalanx A deviation from the normal straight form of one or more middle toe phalanges. UMLS:C4021320 hp.json Curved middle bones of the toes|Curved middle phalanges of the toes http://purl.obolibrary.org/obo/HP_0010197 HP:0034102 biolink:PhenotypicFeature Anti-sphingolipid antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids. hp.json http://purl.obolibrary.org/obo/HP_0034102 HP:0034101 biolink:PhenotypicFeature Anti-annexin-V antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V. hp.json http://purl.obolibrary.org/obo/HP_0034101 HP:0010196 biolink:PhenotypicFeature Bullet-shaped middle toe phalanx An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4021321 hp.json Bullet-shaped middle bones of the toes|Bullet-shaped middle phalanges of the toes http://purl.obolibrary.org/obo/HP_0010196 HP:0034108 biolink:PhenotypicFeature Anti-Y-box protein-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1. hp.json Anti-YB 1 antibody positivity http://purl.obolibrary.org/obo/HP_0034108 HP:0034107 biolink:PhenotypicFeature Anti-p53 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53. hp.json http://purl.obolibrary.org/obo/HP_0034107 HP:0034109 biolink:PhenotypicFeature Anti-GW182 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182. hp.json http://purl.obolibrary.org/obo/HP_0034109 HP:0010184 biolink:PhenotypicFeature Abnormality of toe proximal phalanx A morphological anomaly of one or more proximal phalanges of one or more toes. UMLS:C4021327 hp.json Abnormal innermost toe bone|Abnormality of the proximal phalanges of the toes http://purl.obolibrary.org/obo/HP_0010184 HP:0009195 biolink:PhenotypicFeature Epiphyseal stippling of the metacarpals The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals. UMLS:C4021514 hp.json Stippling of the epiphyses of the metacarpals|Speckled calcifications in end part of the long bone of hand http://purl.obolibrary.org/obo/HP_0009195 HP:0009194 biolink:PhenotypicFeature Small epiphyses of the metacarpals Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms. UMLS:C4024543 hp.json Small end part of the long bone of hand http://purl.obolibrary.org/obo/HP_0009194 HP:0010183 biolink:PhenotypicFeature Abnormality of the middle phalanges of the toes UMLS:C4023981 hp.json Abnormal middle bones of toe http://purl.obolibrary.org/obo/HP_0010183 HP:0010182 biolink:PhenotypicFeature Abnormality of the distal phalanges of the toes UMLS:C4023982 hp.json Abnormality of the outermost bone of the toes http://purl.obolibrary.org/obo/HP_0010182 HP:0009197 biolink:PhenotypicFeature Bracket epiphysis of the proximal phalanx of the 5th finger An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024542 hp.json Bracket shaped end part of the innermost bone of the pinkie finger|Bracket shaped end part of the innermost bone of the pinky finger|Bracket shaped end part of the innermost bone of the little finger http://purl.obolibrary.org/obo/HP_0009197 GO:1904819 biolink:BiologicalProcess parietal peritoneum development The process whose specific outcome is the progression of a parietal peritoneum over time, from its formation to the mature structure. hp.json peritoneal cavity lining development http://purl.obolibrary.org/obo/GO_1904819 HP:0009196 biolink:PhenotypicFeature Absent metacarpal epiphyses Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals. UMLS:C4021513 hp.json Absent metacarpal ossification center|Absent end part of the long bone of hand|Absent metacarpal ossification centre http://purl.obolibrary.org/obo/HP_0009196 HP:0010181 biolink:PhenotypicFeature Duplication of phalanx of toe Partial/complete duplication of one or more phalanx of toe. UMLS:C4021328 hp.json Duplicated toe bone|Partial/complete duplication of the phalanges of the toes http://purl.obolibrary.org/obo/HP_0010181 GO:1904818 biolink:BiologicalProcess visceral peritoneum development The process whose specific outcome is the progression of a visceral peritoneum over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_1904818 HP:0009191 biolink:PhenotypicFeature Ivory epiphyses of the metacarpals Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024545 hp.json Increased bone density of end part of the long bone of hands http://purl.obolibrary.org/obo/HP_0009191 HP:0010180 biolink:PhenotypicFeature Triangular shaped phalanges of the toes UMLS:C4023983 hp.json Triangular shaped toe bones http://purl.obolibrary.org/obo/HP_0010180 GO:1904817 biolink:BiologicalProcess serous membrane development The process whose specific outcome is the progression of a serous membrane over time, from its formation to the mature structure. hp.json serosa development|wall of serous sac development|tunica serosa development http://purl.obolibrary.org/obo/GO_1904817 HP:0009190 biolink:PhenotypicFeature Irregular epiphyses of the metacarpals Irregular radiographic opacity of the epiphyses of the metacarpals. UMLS:C4024546 hp.json Irregular end part of the long bone of hand http://purl.obolibrary.org/obo/HP_0009190 HP:0009193 biolink:PhenotypicFeature Pseudoepiphyses of the metacarpals A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. UMLS:C1860253 hp.json Accessory proximal metacarpal ossification centres|Metacarpal pseudoepiphyses|Accessory proximal metacarpal ossification centers http://purl.obolibrary.org/obo/HP_0009193 HP:0009192 biolink:PhenotypicFeature Aplasia/Hypoplasia of the proximal phalanx of the 5th finger Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger. UMLS:C4024544 hp.json Absent/small innermost pinky finger bone|Absent/small innermost little finger bone|Absent/small innermost pinkie finger bone|Absent/underdeveloped innermost pinky finger bone http://purl.obolibrary.org/obo/HP_0009192 HP:0034115 biolink:PhenotypicFeature Anti-Kelch like protein 12 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12. hp.json Anti-KLHL-12 antibody positivity http://purl.obolibrary.org/obo/HP_0034115 HP:0034114 biolink:PhenotypicFeature Anti-hexokinase-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1. hp.json Anti-HK-1 antibody positivity http://purl.obolibrary.org/obo/HP_0034114 HP:0034117 biolink:PhenotypicFeature Anti-angiotensin-converting enzyme 2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2. hp.json Anti-ACE2 antibody positivity http://purl.obolibrary.org/obo/HP_0034117 HP:0010189 biolink:PhenotypicFeature Osteolytic defects of the distal phalanges of the toes UMLS:C4023979 hp.json http://purl.obolibrary.org/obo/HP_0010189 HP:0034116 biolink:PhenotypicFeature Anti-thyrotropin receptor antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody. hp.json http://purl.obolibrary.org/obo/HP_0034116 HP:0010188 biolink:PhenotypicFeature Curved distal toe phalanx A deviation from the normal straight form of one or more distal toe phalanges. UMLS:C4021324 hp.json Curved distal phalanges of the toes|Curved outermost bone of the toe http://purl.obolibrary.org/obo/HP_0010188 HP:0034111 biolink:PhenotypicFeature Anti-MIT3 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3. hp.json http://purl.obolibrary.org/obo/HP_0034111 HP:0010187 biolink:PhenotypicFeature Bullet-shaped distal toe phalanx An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4021325 hp.json Bullet-shaped outermost bone of the toe|Bullet-shaped distal phalanges of the toes http://purl.obolibrary.org/obo/HP_0010187 HP:0034110 biolink:PhenotypicFeature Anti-Gerbich phenotype 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1. hp.json Anti-Ge-1 antibody positivity http://purl.obolibrary.org/obo/HP_0034110 HP:0010186 biolink:PhenotypicFeature Broad distal phalanx of the toes Increased width of the distal phalanx of toe of one or more toes. UMLS:C4023980 hp.json Wide outermost bone of the toe|Broad outermost bone of the toe http://purl.obolibrary.org/obo/HP_0010186 HP:0034113 biolink:PhenotypicFeature obsolete Anti-type I liver-kidney microsomal antibody positivity The presence of type I liver-kidney microsomal autoantibodies (immunoglobulins) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034113 HP:0010185 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanges of the toes Absence or underdevelopment of the distal phalanges of the toes. UMLS:C4020773|UMLS:C4021326 hp.json Absent/underdeveloped outermost bones of toe|Hypoplasia/agenesis of distal phalanges of toes|Absent/small outermost bones of toe|Absent/hypoplastic terminal phalanges of toes http://purl.obolibrary.org/obo/HP_0010185 HP:0034112 biolink:PhenotypicFeature Anti-GM1 IgG antibody positivity The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1. hp.json http://purl.obolibrary.org/obo/HP_0034112 HP:0034119 biolink:PhenotypicFeature Anti-GD1a IgG antibody positivity The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. hp.json http://purl.obolibrary.org/obo/HP_0034119 HP:0034118 biolink:PhenotypicFeature Anti-GM1 IgM antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1. hp.json http://purl.obolibrary.org/obo/HP_0034118 HP:0009188 biolink:PhenotypicFeature Pseudoepiphysis of the distal phalanx of the 5th finger A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024548 hp.json http://purl.obolibrary.org/obo/HP_0009188 HP:0009187 biolink:PhenotypicFeature Bracket epiphysis of the distal phalanx of the 5th finger An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024549 hp.json Bracket shaped end part of the outermost little finger bone|Bracket shaped end part of the outermost pinky finger bone|Bracket shaped end part of the outermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0009187 CL:0000381 biolink:Cell neurosecretory neuron FBbt:00005130 hp.json http://purl.obolibrary.org/obo/CL_0000381 CHEBI:132142 biolink:ChemicalSubstance 1,4-naphthoquinones A naphthoquinone in which the oxo groups of the quinone moiety are at positions 1 and 4 of the parent naphthalene ring. hp.json http://purl.obolibrary.org/obo/CHEBI_132142 3_STAR HP:0009189 biolink:PhenotypicFeature Fragmentation of the metacarpal epiphyses Fragmented appearance of the epiphyses of the metacarpals. UMLS:C4024547 hp.json Fragmentation of end part of the long bone of hand http://purl.obolibrary.org/obo/HP_0009189 HP:0010173 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the toes UMLS:C4023987 hp.json Absent/small toe bones|Absent/underdeveloped toe bones http://purl.obolibrary.org/obo/HP_0010173 HP:0010172 biolink:PhenotypicFeature Triangular epiphyses of the toes UMLS:C4023988 hp.json Triangular end part of the toe bones http://purl.obolibrary.org/obo/HP_0010172 HP:0010171 biolink:PhenotypicFeature Epiphyseal stippling of toe phalanges The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes. UMLS:C4021332 hp.json Speckled calcifications in long toe bones|Stippling of the epiphyses of the toes http://purl.obolibrary.org/obo/HP_0010171 HP:0034120 biolink:PhenotypicFeature Anti-GD1a IgM antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. hp.json http://purl.obolibrary.org/obo/HP_0034120 HP:0010170 biolink:PhenotypicFeature Small epiphyses of the toes UMLS:C4023989 hp.json Small end part of the toe bones http://purl.obolibrary.org/obo/HP_0010170 GO:1904829 biolink:BiologicalProcess regulation of aortic smooth muscle cell differentiation Any process that modulates the frequency, rate or extent of aortic smooth muscle cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_1904829 HP:0034126 biolink:PhenotypicFeature Anti-GD1b IgG antibody positivity The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. hp.json http://purl.obolibrary.org/obo/HP_0034126 HP:0034125 biolink:PhenotypicFeature Anti-GD1b IgM antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. hp.json http://purl.obolibrary.org/obo/HP_0034125 HP:0010179 biolink:PhenotypicFeature Symphalangism affecting the phalanges of the toes UMLS:C4023984 hp.json Fused toe bones http://purl.obolibrary.org/obo/HP_0010179 HP:0034128 biolink:PhenotypicFeature Anti-GT1a antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. hp.json http://purl.obolibrary.org/obo/HP_0034128 HP:0010178 biolink:PhenotypicFeature Patchy sclerosis of toe phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the foot. UMLS:C4021329 hp.json Patchy sclerosis of the phalanges of the toes|Uneven increase in bone density in toe bone http://purl.obolibrary.org/obo/HP_0010178 HP:0034127 biolink:PhenotypicFeature Anti-GQ1b IgG antibody positivity The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. hp.json http://purl.obolibrary.org/obo/HP_0034127 GO:1904820 biolink:BiologicalProcess peritoneum development The process whose specific outcome is the progression of a peritoneum over time, from its formation to the mature structure. hp.json peritonaeum development http://purl.obolibrary.org/obo/GO_1904820 HP:0010177 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the toes UMLS:C4023985 hp.json http://purl.obolibrary.org/obo/HP_0010177 HP:0034122 biolink:PhenotypicFeature Anti-GQ1b antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. hp.json http://purl.obolibrary.org/obo/HP_0034122 HP:0034121 biolink:PhenotypicFeature Anti-GD1a antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. hp.json http://purl.obolibrary.org/obo/HP_0034121 HP:0010176 biolink:PhenotypicFeature Curved toe phalanx A deviation from the normal straight form of one or more toe phalanges. UMLS:C4021330 hp.json Curved toe bone|Curved phalanges of the toes http://purl.obolibrary.org/obo/HP_0010176 HP:0010175 biolink:PhenotypicFeature Bullet-shaped toe phalanx An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4021331 hp.json Bullet-shaped toe bone|Bullet-shaped phalanges of the toes http://purl.obolibrary.org/obo/HP_0010175 HP:0034124 biolink:PhenotypicFeature Anti-GD1b antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. hp.json http://purl.obolibrary.org/obo/HP_0034124 HP:0034123 biolink:PhenotypicFeature Anti-GQ1b IgM antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. hp.json http://purl.obolibrary.org/obo/HP_0034123 HP:0010174 biolink:PhenotypicFeature Broad phalanx of the toes Increased width of phalanx of one or more toes. UMLS:C4023986 hp.json Wide toe bones http://purl.obolibrary.org/obo/HP_0010174 CL:0000397 biolink:Cell ganglion interneuron hp.json http://purl.obolibrary.org/obo/CL_0000397 HP:0034129 biolink:PhenotypicFeature Anti-GT1a IgM antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. hp.json http://purl.obolibrary.org/obo/HP_0034129 HP:0009199 biolink:PhenotypicFeature Irregular epiphysis of the proximal phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger. UMLS:C4024541 hp.json Irregular end part of the innermost pinkie finger bone|Irregular end part of the innermost pinky finger bone|Irregular end part of the innermost little finger bone http://purl.obolibrary.org/obo/HP_0009199 HP:0009198 biolink:PhenotypicFeature Abnormality of the epiphysis of the distal phalanx of the 5th finger Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. UMLS:C4021512 hp.json Abnormality of end part of the outermost bone of the pinky finger|Abnormality of the epiphysis of the terminal phalanx of the little finger|Abnormality of end part of the outermost bone of the pinkie finger|Abnormality of end part of the outermost bone of the little finger http://purl.obolibrary.org/obo/HP_0009198 CHEBI:132153 biolink:ChemicalSubstance hyaluronate A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3. hp.json hyaluronan|hyaluronate polyanion http://purl.obolibrary.org/obo/CHEBI_132153 3_STAR CL:0000393 biolink:Cell electrically responsive cell A cell whose function is determined by its response to an electric signal. hp.json http://purl.obolibrary.org/obo/CL_0000393 HP:0500030 biolink:PhenotypicFeature Abnormal hepatic glycogen storage Change in normal glycogen storage content. hp.json http://purl.obolibrary.org/obo/HP_0500030 GO:1990751 biolink:BiologicalProcess Schwann cell chemotaxis The directed movement of a Schwann cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). hp.json http://purl.obolibrary.org/obo/GO_1990751 HP:0500032 biolink:PhenotypicFeature Abnormal neuron branching Abnormality of the structure and branching of the dendrites of a neuron. hp.json Aberrant neuronal branching|Abnormal neuronal branching http://purl.obolibrary.org/obo/HP_0500032 HP:0500031 biolink:PhenotypicFeature Sclerosis of the carpal bones An elevation in bone density in one or more carpal bones of the hand. hp.json http://purl.obolibrary.org/obo/HP_0500031 HP:0500034 biolink:PhenotypicFeature Nasolacrimal sac obstruction Blockage of the nasolacrimal sac. hp.json http://purl.obolibrary.org/obo/HP_0500034 HP:0500033 biolink:PhenotypicFeature Abnormal natural killer subset distribution Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells. hp.json http://purl.obolibrary.org/obo/HP_0500033 HP:0500036 biolink:PhenotypicFeature Nasolacrimal sac papilloma Benign tumor of the nasolacrimal sac. hp.json http://purl.obolibrary.org/obo/HP_0500036 HP:0500035 biolink:PhenotypicFeature Nasolacrimal sac granuloma A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac. hp.json http://purl.obolibrary.org/obo/HP_0500035 HP:0010324 biolink:PhenotypicFeature Abnormal morphology of phalanx of the 2nd toe An anomaly of a phalanx of second toe. UMLS:C4023903 hp.json Abnormality of the 2nd toe bone http://purl.obolibrary.org/obo/HP_0010324 HP:0000998 biolink:PhenotypicFeature Hypertrichosis Hypertrichosis is increased hair growth that is abnormal in quantity or location. UMLS:C0020555|SNOMEDCT_US:29966009|MSH:D006983|SNOMEDCT_US:271607001 hp.json Excessive hair growth|Increased hair growth on body http://purl.obolibrary.org/obo/HP_0000998 HP:0010323 biolink:PhenotypicFeature Abnormality of the epiphyses of the 2nd toe UMLS:C4023904 hp.json Abnormality of the end part of the 2nd toe bone http://purl.obolibrary.org/obo/HP_0010323 UBERON:0010143 biolink:AnatomicalEntity seminal vesicle fluid A bodily secretion that is produced by a seminal vesicle. NCIT:C33529|UMLS:C0227987|MA:0002526|FMA:62969|BTO:0002053|UMLS:C0036614|NCIT:C52552 hp.json seminal vesicle secretion|seminal fluid|vesicular fluid|secretion of seminal vesicle http://purl.obolibrary.org/obo/UBERON_0010143 HP:0500037 biolink:PhenotypicFeature Nasolacrimal sac epithelial papillary carcinoma The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac. hp.json http://purl.obolibrary.org/obo/HP_0500037 HP:0000997 biolink:PhenotypicFeature Axillary freckling The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. UMLS:C1860335 hp.json http://purl.obolibrary.org/obo/HP_0000997 hposlim_core HP:0010322 biolink:PhenotypicFeature Abnormality of the 5th toe An anomaly of the little toe. UMLS:C4023905 hp.json Abnormality of the little toe|Abnormality of the pinkie toe|Abnormality of the pinky toe http://purl.obolibrary.org/obo/HP_0010322 UBERON:0010141 biolink:AnatomicalEntity primitive sex cord of indifferent gonad A sex cord that is part of a indifferent gonad. EHDAA2:0004051 hp.json primitive sex cords|indifferent sex cord http://purl.obolibrary.org/obo/UBERON_0010141 HP:0010321 biolink:PhenotypicFeature Abnormality of the 4th toe An anomaly of the fourth toe. UMLS:C4023906 hp.json Abnormality of the 4th toe http://purl.obolibrary.org/obo/HP_0010321 HP:0500039 biolink:PhenotypicFeature Conjunctival cicatrization An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring. hp.json Cicatricial conjunctivitis|Cicatrizating conjunctivitis|Conjunctival cicatricial conjunctivitis http://purl.obolibrary.org/obo/HP_0500039 HP:0000999 biolink:PhenotypicFeature Pyoderma Any manifestation of a skin disease associated with the production of pus. MSH:D011711|SNOMEDCT_US:70759006|UMLS:C0034212 hp.json Pus-filled lesion http://purl.obolibrary.org/obo/HP_0000999 HP:0010320 biolink:PhenotypicFeature Abnormality of the 3rd toe An anomaly of the third toe. UMLS:C4023907 hp.json Abnormality of the 3rd toe http://purl.obolibrary.org/obo/HP_0010320 UBERON:0010147 biolink:AnatomicalEntity male accessory sex gland Any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and vesicular glands of the male. BTO:0004798 hp.json male accessory reproductive gland|male accessory gland http://purl.obolibrary.org/obo/UBERON_0010147 pheno_slim HP:0000992 biolink:PhenotypicFeature Cutaneous photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. MSH:D010787|SNOMEDCT_US:90128006|UMLS:C0349506 hp.json Sensitivity to sunlight|Photosensitivity|Sun sensitivity|Photosensitive skin|Photosensitive skin rashes|Skin photosensitivity http://purl.obolibrary.org/obo/HP_0000992 hposlim_core HP:0010329 biolink:PhenotypicFeature Abnormality of the epiphyses of the 3rd toe UMLS:C4023900 hp.json Abnormality of the end part of the 3rd toe bone http://purl.obolibrary.org/obo/HP_0010329 HP:0000991 biolink:PhenotypicFeature Xanthomatosis The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. UMLS:C0043325|MSH:D014973|SNOMEDCT_US:63103006 hp.json Yellow bumps of fatty deposits on skin|Xanthomata http://purl.obolibrary.org/obo/HP_0000991 NCBITaxon:50557 biolink:OrganismalEntity Insecta GC_ID:1 hp.json insects|true insects http://purl.obolibrary.org/obo/NCBITaxon_50557 HP:0009328 biolink:PhenotypicFeature Pseudoepiphysis of the middle phalanx of the 3rd finger A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4021491 hp.json Pseudoepiphyses of middle phalanx of middle-finger http://purl.obolibrary.org/obo/HP_0009328 HP:0010328 biolink:PhenotypicFeature Polydactyly affecting the 2nd toe UMLS:C4023901 hp.json http://purl.obolibrary.org/obo/HP_0010328 HP:0000993 biolink:PhenotypicFeature Molluscoid pseudotumors Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. UMLS:C1844597 hp.json Molluscoid pseudotumor http://purl.obolibrary.org/obo/HP_0000993 HP:0010327 biolink:PhenotypicFeature Flexion contracture of the 2nd toe One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively. UMLS:C4021296 hp.json Joint contractures of the 2nd toe http://purl.obolibrary.org/obo/HP_0010327 HP:0009327 biolink:PhenotypicFeature Ivory epiphysis of the middle phalanx of the 3rd finger Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024438 hp.json Increased bone density of end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009327 HP:0010326 biolink:PhenotypicFeature Deviation of the 2nd toe UMLS:C4021297 hp.json Displacement of the 2nd toe http://purl.obolibrary.org/obo/HP_0010326 HP:0000996 biolink:PhenotypicFeature Facial capillary hemangioma Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. UMLS:C1858545 hp.json http://purl.obolibrary.org/obo/HP_0000996 HP:0009329 biolink:PhenotypicFeature Small epiphysis of the middle phalanx of the 3rd finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. UMLS:C4024437 hp.json Small end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009329 HP:0010325 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 2nd toe UMLS:C4023902 hp.json Absent/underdeveloped 2nd toe|Absent/small 2nd toe http://purl.obolibrary.org/obo/HP_0010325 HP:0000995 biolink:PhenotypicFeature Melanocytic nevus A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. SNOMEDCT_US:21119008|SNOMEDCT_US:400096001|MSH:D009508|UMLS:C0027962|UMLS:C4280269 hp.json Pigmented naevi|Melanocytic nevi|Nevocellular nevi|Pigmented nevi|Noncancerous mole|Beauty mark|Melanocytic naevus http://purl.obolibrary.org/obo/HP_0000995 HP:0009324 biolink:PhenotypicFeature Enlarged epiphysis of the middle phalanx of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. UMLS:C4024441 hp.json Enlarged end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009324 HP:0009323 biolink:PhenotypicFeature Cone-shaped epiphysis of the middle phalanx of the 3rd finger A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4024442 hp.json Cone-shaped end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009323 HP:0009326 biolink:PhenotypicFeature Irregular epiphysis of the middle phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger. UMLS:C4024439 hp.json Irregular end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009326 HP:0009325 biolink:PhenotypicFeature Fragmentation of the epiphysis of the middle phalanx of the 3rd finger Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger. UMLS:C4024440 hp.json Fragmentation of end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009325 HP:0009320 biolink:PhenotypicFeature Abnormality of the epiphyses of the 3rd finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger. UMLS:C4024445 hp.json Abnormality of end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009320 HP:0009322 biolink:PhenotypicFeature Bracket epiphysis of the middle phalanx of the 3rd finger An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024443 hp.json Bracket shaped end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009322 HP:0009321 biolink:PhenotypicFeature Absent epiphysis of the middle phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger. UMLS:C4024444 hp.json Absent end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009321 HP:0500021 biolink:PhenotypicFeature Reduced brain gamma-aminobutyric acid level by MRS An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS). hp.json http://purl.obolibrary.org/obo/HP_0500021 HP:0009340 biolink:PhenotypicFeature Irregular epiphysis of the distal phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger. UMLS:C4024427 hp.json Irregular end part of the outermost long bone of the middle finger http://purl.obolibrary.org/obo/HP_0009340 HP:0500020 biolink:PhenotypicFeature Abnormal cardiac biomarker test Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. hp.json http://purl.obolibrary.org/obo/HP_0500020 HP:0500023 biolink:PhenotypicFeature Shoulder muscle aplasia Absence of shoulder muscles. hp.json Absent shoulder muscle http://purl.obolibrary.org/obo/HP_0500023 HP:0500022 biolink:PhenotypicFeature Abnormal circulating dehydroepiandrosterone concentration A deviation from the normal concentration of dehydroepiandrosterone in the circulation. hp.json Abnormal serum DHEA|Abnormal serum dehydroepiandrosterone level|Abnormal serum androstenolone level http://purl.obolibrary.org/obo/HP_0500022 HP:0500024 biolink:PhenotypicFeature Aplasia of the musculature of the pelvis Absence of the musculature of the pelvis. hp.json http://purl.obolibrary.org/obo/HP_0500024 UBERON:0009141 biolink:AnatomicalEntity craniocervical region vein A vein that is part of a craniocervical region. SCTID:32945007|EHDAA2:0004542 hp.json vein of head and neck|craniocervical vein|head and neck veins http://purl.obolibrary.org/obo/UBERON_0009141 HP:0500027 biolink:PhenotypicFeature Aplastic colon Congenital absence of the colon hp.json Aplasia of the colon|Absence of the colon http://purl.obolibrary.org/obo/HP_0500027 HP:0034302 biolink:PhenotypicFeature Megalopapilla A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. hp.json http://purl.obolibrary.org/obo/HP_0034302 HP:0010313 biolink:PhenotypicFeature Breast hypertrophy The presence of hypertrophy of the breast. SNOMEDCT_US:372283008|SNOMEDCT_US:372281005|UMLS:C0392533|UMLS:C0020565|UMLS:C2225524|SNOMEDCT_US:372285001|MSH:C536821 hp.json Large breast|Hypertrophy of the breasts|Gigantomastia|Macromastia|Breast enlargement|Breasts enlarged http://purl.obolibrary.org/obo/HP_0010313 hposlim_core UBERON:0010131 biolink:AnatomicalEntity conducting tissue of heart Any portion of cardiac muscle tissue that is part of the conducting system of heart or the Purkinje fibers. FMA:83378|EHDAA2:0004528 hp.json specialized muscle tissue of heart|specialized conducting tissue of heart http://purl.obolibrary.org/obo/UBERON_0010131 HP:0034301 biolink:PhenotypicFeature Congenital pouch colon A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract. hp.json http://purl.obolibrary.org/obo/HP_0034301 HP:0010312 biolink:PhenotypicFeature Asymmetry of the breasts The presence of asymmetrical breasts. UMLS:C1854013|MSH:C565299 hp.json http://purl.obolibrary.org/obo/HP_0010312 hposlim_core HP:0500026 biolink:PhenotypicFeature Hypoplasia of the musculature of the pelvis Underdevelopment of the musculature of the pelvis. hp.json http://purl.obolibrary.org/obo/HP_0500026 HP:0010311 biolink:PhenotypicFeature Aplasia/Hypoplasia of the breasts Absence or underdevelopment of the breasts. UMLS:C4023911 hp.json Absent/small breasts|Absent/underdeveloped breasts http://purl.obolibrary.org/obo/HP_0010311 HP:0034304 biolink:PhenotypicFeature Epsilon wave An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave. hp.json http://purl.obolibrary.org/obo/HP_0034304 HP:0010310 biolink:PhenotypicFeature Chylothorax Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. UMLS:C0008733|SNOMEDCT_US:83035003|MSH:D002916 hp.json http://purl.obolibrary.org/obo/HP_0010310 UBERON:0010130 biolink:AnatomicalEntity embryonic autopod plate The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw). hp.json autopod plate|limb plate http://purl.obolibrary.org/obo/UBERON_0010130 HP:0500028 biolink:PhenotypicFeature Cotton wool plaques Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. hp.json CWPs http://purl.obolibrary.org/obo/HP_0500028 HP:0034303 biolink:PhenotypicFeature Notched T wave A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV. hp.json Notched T-wave http://purl.obolibrary.org/obo/HP_0034303 UBERON:0010135 biolink:AnatomicalEntity sensory circumventricular organ A circumventricular organ that is capable of monitoring the levels of substances to the cerebrospinal fluid. EMAPA:37741|MA:0002944 hp.json humerosensory system organ|sensory circumventricular organs|sensitive organs|sensitive circumventricular organs|humerosensory circumventricular organ|sensory CVOs|humerosensory system http://purl.obolibrary.org/obo/UBERON_0010135 pheno_slim UBERON:0010136 biolink:AnatomicalEntity epithelial sheet An epithelial sheet is a flat surface consisting of closely packed epithelial cells. hp.json http://purl.obolibrary.org/obo/UBERON_0010136 HP:0034300 biolink:PhenotypicFeature Decreased acid sphingomyelinase activity Reduced enzyme of acid sphingomyelinase activity in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034300 UBERON:0010133 biolink:AnatomicalEntity neuroendocrine gland Any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli. MA:0000720 hp.json neuroendocrine system gland http://purl.obolibrary.org/obo/UBERON_0010133 pheno_slim UBERON:0010134 biolink:AnatomicalEntity secretory circumventricular organ A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. EMAPA:35759|MA:0002943 hp.json http://purl.obolibrary.org/obo/UBERON_0010134 pheno_slim HP:0034309 biolink:PhenotypicFeature Multiflagellar spermatozoa Spermatozoa with multiple flagella attached to the sperm head. hp.json Multi-tailed spermatozoa http://purl.obolibrary.org/obo/HP_0034309 UBERON:0010129 biolink:AnatomicalEntity femur cartilage element A femur endochondral element that is composed primarily of cartilage tissue. EMAPA:17742 hp.json femoral cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010129 HP:0010319 biolink:PhenotypicFeature Abnormality of the 2nd toe An anomaly of the second toe. UMLS:C4023908 hp.json http://purl.obolibrary.org/obo/HP_0010319 HP:0010318 biolink:PhenotypicFeature Aplasia/Hypoplasia of the abdominal wall musculature Absence or underdevelopment of the abdominal musculature. UMLS:C4023909 hp.json Absent/underdeveloped abdominal wall muscles|Absent/small abdominal wall muscles http://purl.obolibrary.org/obo/HP_0010318 HP:0010317 biolink:PhenotypicFeature Scapular aplasia Absence of the scapulae. UMLS:C4021298 hp.json Absent shoulder blade|Absent scapula http://purl.obolibrary.org/obo/HP_0010317 hposlim_core HP:0034306 biolink:PhenotypicFeature Ventricular bigeminy An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat. hp.json http://purl.obolibrary.org/obo/HP_0034306 HP:0009339 biolink:PhenotypicFeature Fragmentation of the epiphysis of the distal phalanx of the 3rd finger Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger. UMLS:C4024428 hp.json Fragmentation of end part of the outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009339 HP:0010316 biolink:PhenotypicFeature Ebstein anomaly of the tricuspid valve Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. EPCC:06.01.34|UMLS:C0013481|SNOMEDCT_US:204357006|ICD-10:Q22.5|MSH:D004437 hp.json Ebstein's anomaly|Ebstein's anomaly of the tricuspid valve|Ebstein's malformation http://purl.obolibrary.org/obo/HP_0010316 HP:0034305 biolink:PhenotypicFeature 2:1 atrioventricular block A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex. hp.json 2:1 AV block http://purl.obolibrary.org/obo/HP_0034305 HP:0009338 biolink:PhenotypicFeature Enlarged epiphysis of the distal phalanx of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. UMLS:C4024429 hp.json Enlarged end part of the outermost bone of the 3rd finger http://purl.obolibrary.org/obo/HP_0009338 HP:0010315 biolink:PhenotypicFeature Aplasia/Hypoplasia of the diaphragm Absence or underdevelopment of the diaphragm. UMLS:C4023910 hp.json Absent/small diaprhagm|Absent/underdeveloped diaprhagm http://purl.obolibrary.org/obo/HP_0010315 HP:0034308 biolink:PhenotypicFeature Prolonged P wave Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction. hp.json http://purl.obolibrary.org/obo/HP_0034308 HP:0034307 biolink:PhenotypicFeature Elevated left ventricular end-diastolic diameter The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae. hp.json http://purl.obolibrary.org/obo/HP_0034307 HP:0010314 biolink:PhenotypicFeature Premature thelarche Premature development of the breasts. UMLS:C0425772|SNOMEDCT_US:102889008 hp.json Premature breast development http://purl.obolibrary.org/obo/HP_0010314 HP:0009335 biolink:PhenotypicFeature Absent epiphysis of the distal phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger. UMLS:C4024432 hp.json Absent end part of the outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009335 UBERON:0009142 biolink:AnatomicalEntity entire embryonic mesenchyme Sum total of mesenchyme in the embryo. EHDAA2:0001113|EMAPA:16097|EHDAA:177 hp.json http://purl.obolibrary.org/obo/UBERON_0009142 HP:0009334 biolink:PhenotypicFeature Abnormality of the epiphysis of the middle phalanx of the 3rd finger UMLS:C4024433 hp.json Abnormality of the middle part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009334 HP:0009337 biolink:PhenotypicFeature Cone-shaped epiphysis of the distal phalanx of the 3rd finger A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4024430 hp.json Cone-shaped end part of the outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009337 HP:0009336 biolink:PhenotypicFeature Bracket epiphysis of the distal phalanx of the 3rd finger An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024431 hp.json Bracket shaped end part of the outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009336 UBERON:0009145 biolink:AnatomicalEntity pharyngeal region of foregut RETIRED_EHDAA2:0001454|EMAPA:16549 hp.json pharyngeal region http://purl.obolibrary.org/obo/UBERON_0009145 GO:1990765 biolink:BiologicalProcess colon smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry of the large intestine, exclusive of the rectum. The colon is that part of the large intestine that connects the small intestine to the rectum. hp.json http://purl.obolibrary.org/obo/GO_1990765 HP:0009331 biolink:PhenotypicFeature Triangular epiphysis of the middle phalanx of the 3rd finger A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4021490 hp.json Delta-shaped epiphysis of the middle phalanx of the 3rd finger|Triangular end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009331 HP:0009330 biolink:PhenotypicFeature Stippling of the epiphysis of the middle phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger. UMLS:C4024436 hp.json Speckled calcifications in end part of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009330 HP:0009333 biolink:PhenotypicFeature Abnormality of the epiphysis of the proximal phalanx of the 3rd finger UMLS:C4024434 hp.json Abnormality of the end part of the innermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009333 HP:0009332 biolink:PhenotypicFeature Abnormality of the epiphysis of the distal phalanx of the 3rd finger UMLS:C4024435 hp.json Abnormality of the end part of the outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009332 GO:1990768 biolink:BiologicalProcess gastric mucosal blood circulation The flow of blood through the gastric mucosa of an animal, enabling the transport of nutrients and the removal of waste products. hp.json stomach mucosal blood circulation http://purl.obolibrary.org/obo/GO_1990768 HP:0500010 biolink:PhenotypicFeature obsolete Increased cholesterol esters hp.json http://purl.obolibrary.org/obo/HP_0500010 HP:0500012 biolink:PhenotypicFeature Abnormal gonadotropin-releasing hormone concentration A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH). hp.json Abnormality of GnRH level|Abnormality of gonadotropin-releasing hormone level http://purl.obolibrary.org/obo/HP_0500012 HP:0500011 biolink:PhenotypicFeature Moon facies A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. hp.json Puffy face|Puffy facies|Moon face http://purl.obolibrary.org/obo/HP_0500011 GO:1990770 biolink:BiologicalProcess small intestine smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry in the intestine between the stomach and the large intestine. hp.json http://purl.obolibrary.org/obo/GO_1990770 HP:0500014 biolink:PhenotypicFeature obsolete Abnormal test result hp.json http://purl.obolibrary.org/obo/HP_0500014 HP:0500013 biolink:PhenotypicFeature Lack of gonadotropin-releasing hormone pulsatility Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion. hp.json Absence of GnRH pulsatility http://purl.obolibrary.org/obo/HP_0500013 HP:0010302 biolink:PhenotypicFeature Spinal cord tumor A neoplasm affecting the spinal cord. UMLS:C0037930|MSH:D013120|NCIT:C3262|SNOMEDCT_US:126962006 hp.json Tumour of the spinal cord|Spinal cord tumor|Spinal tumors|Tumor of the spinal cord|Spinal cord tumour|Spinal tumour|Spinal tumor|Spinal tumours http://purl.obolibrary.org/obo/HP_0010302 HP:0000976 biolink:PhenotypicFeature Eczematoid dermatitis MSH:D004485|UMLS:C0013595|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000 hp.json http://purl.obolibrary.org/obo/HP_0000976 HP:0034313 biolink:PhenotypicFeature Hyperdynamic left ventricular ejection fraction An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent. hp.json http://purl.obolibrary.org/obo/HP_0034313 HP:0500016 biolink:PhenotypicFeature Abnormal cardiac MRI Abnormal results of a MRI for the heart. hp.json Abnormal cardiac magnetic resonance imaging|Abnormal heart MRI http://purl.obolibrary.org/obo/HP_0500016 HP:0034312 biolink:PhenotypicFeature Nocturnal hypoxemia Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent. hp.json Sleep hypoxemia|Sleep-related hypoxemia http://purl.obolibrary.org/obo/HP_0034312 HP:0000975 biolink:PhenotypicFeature Hyperhidrosis Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. SNOMEDCT_US:364538006|SNOMEDCT_US:415690000|SNOMEDCT_US:415691001|UMLS:C0038990|SNOMEDCT_US:161857006|SNOMEDCT_US:312230002|UMLS:C0020458|MSH:D013546|SNOMEDCT_US:52613005|MSH:D006945|UMLS:C0700590|MEDDRA:10020642 hp.json Sweating, increased|Profuse sweating|Excessive sweating|Sweating|Increased sweating|Diaphoresis|Sweating profusely http://purl.obolibrary.org/obo/HP_0000975 hposlim_core HP:0010301 biolink:PhenotypicFeature Spinal dysraphism A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. UMLS:C0027794|SNOMEDCT_US:253098009|MSH:D009436 hp.json Incomplete closure of the vertebral arch http://purl.obolibrary.org/obo/HP_0010301 HP:0500015 biolink:PhenotypicFeature Abnormal cardiac test Abnormal test result of cardiovascular physiology. hp.json http://purl.obolibrary.org/obo/HP_0500015 HP:0010300 biolink:PhenotypicFeature Abnormally low-pitched voice An abnormally low-pitched voice. UMLS:C4023915 hp.json http://purl.obolibrary.org/obo/HP_0010300 HP:0000978 biolink:PhenotypicFeature Bruising susceptibility An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. SNOMEDCT_US:302227002|UMLS:C0423798|SNOMEDCT_US:424131007|SNOMEDCT_US:425075004|UMLS:C0013491|SNOMEDCT_US:77643000|MSH:D004438 hp.json Bruisability|Easy bruising|Bruise easily|Easy bruisability|Bruising susceptibility http://purl.obolibrary.org/obo/HP_0000978 HP:0034315 biolink:PhenotypicFeature Chronic cough A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children. hp.json http://purl.obolibrary.org/obo/HP_0034315 HP:0500018 biolink:PhenotypicFeature Abnormal cardiac exercise stress test Abnormal results of exercise on heart function. hp.json Abnormal cardiac exercise test|Abnormal exercise test|Abnormal treadmill test http://purl.obolibrary.org/obo/HP_0500018 HP:0000977 biolink:PhenotypicFeature Soft skin Subjective impression of increased softness upon palpation of the skin. UMLS:C1844592|UMLS:C0241178 hp.json Soft skin|Velvety skin texture|Velvety skin http://purl.obolibrary.org/obo/HP_0000977 hposlim_core HP:0034314 biolink:PhenotypicFeature Abnormal left ventricular ejection fraction Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent. hp.json http://purl.obolibrary.org/obo/HP_0034314 HP:0500017 biolink:PhenotypicFeature Abnormal cardiac catheterization Abnormal results from the diagnostic tests resulting from cardiac catheterization. hp.json Abnormal cardiac cath http://purl.obolibrary.org/obo/HP_0500017 HP:0500019 biolink:PhenotypicFeature Abnormal resting energy expenditure from metabolic cart test Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2). hp.json Abnormal metabolic cart test http://purl.obolibrary.org/obo/HP_0500019 HP:0000979 biolink:PhenotypicFeature Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. SNOMEDCT_US:423902002|SNOMEDCT_US:387778001|UMLS:C0034150|SNOMEDCT_US:12393003|MSH:D011693 hp.json Blood spots|Red or purple spots on the skin http://purl.obolibrary.org/obo/HP_0000979 hposlim_core UBERON:0010125 biolink:AnatomicalEntity future superior salivatory nucleus A gray matter that has the potential to develop into a superior salivatory nucleus. EHDAA2:0004644 hp.json http://purl.obolibrary.org/obo/UBERON_0010125 HP:0034311 biolink:PhenotypicFeature Hypoplastic optic chiasm Developmental defect characterized by undergrowth of the optic chiasm. hp.json Optic chiasm hypoplasia http://purl.obolibrary.org/obo/HP_0034311 HP:0034310 biolink:PhenotypicFeature Post-vaccination yellow fever Infection with the yellow fever virus of the live-attenuated vaccine. hp.json Postvaccination yellow fever http://purl.obolibrary.org/obo/HP_0034310 UBERON:0010123 biolink:AnatomicalEntity future facial nucleus A gray matter that has the potential to develop into a facial nucleus. EHDAA2:0004639 hp.json http://purl.obolibrary.org/obo/UBERON_0010123 UBERON:0009139 biolink:AnatomicalEntity right posterior cardinal vein A posterior cardinal vein that is in_the_right_side_of a multicellular organism. FMA:70315|EHDAA2:0004536 hp.json posterior cardinal vein right|right postcardinal vein http://purl.obolibrary.org/obo/UBERON_0009139 HP:0009309 biolink:PhenotypicFeature Triangular shaped middle phalanx of the 4th finger Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024452 hp.json Triangular shaped middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009309 HP:0010309 biolink:PhenotypicFeature Bifid sternum The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. UMLS:C0265696|SNOMEDCT_US:54008006 hp.json Sternal cleft http://purl.obolibrary.org/obo/HP_0010309 hposlim_core HP:0010308 biolink:PhenotypicFeature Asternia The congenital absence of the sternum. UMLS:C4023912 hp.json Breast bone aplasia|Aplasia of the sternum http://purl.obolibrary.org/obo/HP_0010308 HP:0000970 biolink:PhenotypicFeature Anhidrosis Inability to sweat. SNOMEDCT_US:39659002|MSH:D007007|SNOMEDCT_US:14662005|UMLS:C0003028|MEDDRA:10002512 hp.json Sudomotor dysfunction|Sweating dysfunction|Lack of sweating|Anhydrosis http://purl.obolibrary.org/obo/HP_0000970 hposlim_core HP:0010307 biolink:PhenotypicFeature Stridor Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. UMLS:C0237304|SNOMEDCT_US:248573009|SNOMEDCT_US:70407001|UMLS:C0038450|MSH:D012135 hp.json Noisy breathing http://purl.obolibrary.org/obo/HP_0010307 HP:0010306 biolink:PhenotypicFeature Short thorax Reduced inferior to superior extent of the thorax. UMLS:C0426789|SNOMEDCT_US:249670005 hp.json Shorter than typical length between neck and abdomen http://purl.obolibrary.org/obo/HP_0010306 HP:0009306 biolink:PhenotypicFeature Triangular shaped distal phalanx of the 4th finger Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024455 hp.json Triangular shaped outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009306 HP:0000972 biolink:PhenotypicFeature Palmoplantar hyperkeratosis Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. SNOMEDCT_US:706885006|MSH:D007645|UMLS:C0022596 hp.json Palmoplantar keratosis|Thickening of the outer layer of the skin of the palms and soles|Thick palms and soles|Hyperkeratosis of the palms and soles|Hyperkeratosis of palms and soles|Palmoplantar keratoses|Thickened palms and soles http://purl.obolibrary.org/obo/HP_0000972 hposlim_core HP:0034317 biolink:PhenotypicFeature Unusual viral infection hp.json http://purl.obolibrary.org/obo/HP_0034317 HP:0010305 biolink:PhenotypicFeature Absence of the sacrum Absence (aplasia) of the sacrum. MSH:C537221|UMLS:C0344490|SNOMEDCT_US:205425003 hp.json Absent sacrum|Sacrococcygeal agenesis|Sacral agenesis http://purl.obolibrary.org/obo/HP_0010305 hposlim_core HP:0000971 biolink:PhenotypicFeature Abnormal sweat gland morphology Any structural abnormality of the sweat gland. UMLS:C0262643|UMLS:C4020881|MSH:D013543|UMLS:C0038986|SNOMEDCT_US:88232005 hp.json Abnormalities of sweating|Sweat gland disease|Abnormality of the sweat gland http://purl.obolibrary.org/obo/HP_0000971 HP:0009305 biolink:PhenotypicFeature Distal/middle symphalangism of 4th finger Fusion of the terminal/distal and middle phalanges of the 4th finger. UMLS:C4021495 hp.json Symphalangism of the distal and middle phalanges of the 4th finger|Fused outermost and middle bones of ring finger http://purl.obolibrary.org/obo/HP_0009305 HP:0034316 biolink:PhenotypicFeature Thinning of the substantia nigra pars compacta Reduced volume of pars compacta of the substantia nigra. hp.json http://purl.obolibrary.org/obo/HP_0034316 HP:0010304 biolink:PhenotypicFeature Spinal meningeal diverticulum An outpouching of the spinal meninges. UMLS:C4023913 hp.json http://purl.obolibrary.org/obo/HP_0010304 HP:0000974 biolink:PhenotypicFeature Hyperextensible skin A condition in which the skin can be stretched beyond normal, and then returns to its initial position. UMLS:C0241074 hp.json Hyperelastic skin|Skin hyperelasticity|Stretchable skin|Skin hyperextensibility http://purl.obolibrary.org/obo/HP_0000974 hposlim_core HP:0009308 biolink:PhenotypicFeature Symphalangism of middle phalanx of 4th finger Fusion of the middle phalanx of the 4th finger with another bone. UMLS:C4024453 hp.json Fused middle bone of ring finger http://purl.obolibrary.org/obo/HP_0009308 HP:0034319 biolink:PhenotypicFeature CNS vasculitis with reactivation of varicella-zoster virus A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries. hp.json http://purl.obolibrary.org/obo/HP_0034319 HP:0009307 biolink:PhenotypicFeature Patchy sclerosis of the middle phalanx of the 4th finger Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger. UMLS:C4024454 hp.json Uneven increase in bone density in the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009307 HP:0000973 biolink:PhenotypicFeature Cutis laxa Wrinkled, redundant, inelastic and sagging skin. UMLS:C0010495|MSH:D003483|MSH:C531660|UMLS:C4280606|UMLS:C2930812|SNOMEDCT_US:58588007 hp.json Lax skin|Chalazoderma|Hanging skin|Dermatomegaly|Hypoelastic skin|Inelastic skin|Dermatochalasia|Loose and inelastic skin|Cutaneous laxity|Generalized elastolysis|Loose skin|Skin laxity|Generalised elastolysis|Elastolysis http://purl.obolibrary.org/obo/HP_0000973 HP:0010303 biolink:PhenotypicFeature Abnormal spinal meningeal morphology Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. UMLS:C4023914 hp.json Abnormality of the spinal meninges http://purl.obolibrary.org/obo/HP_0010303 HP:0034318 biolink:PhenotypicFeature Unusual virus reactivation Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host. hp.json http://purl.obolibrary.org/obo/HP_0034318 HP:0009302 biolink:PhenotypicFeature Bullet-shaped distal phalanx of the 4th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected. UMLS:C4024458 hp.json Bullet-shaped outermost bone of ring finger http://purl.obolibrary.org/obo/HP_0009302 HP:0009301 biolink:PhenotypicFeature Short proximal phalanx of the 4th finger Hypoplastic/small proximal phalanx of the fourth finger. UMLS:C4021496 hp.json Short proximal phalanx of the fourth finger|Short innermost bone of the ring finger|Hypoplastic/small proximal phalanx of the 4th finger http://purl.obolibrary.org/obo/HP_0009301 UBERON:0009132 biolink:AnatomicalEntity peroneus One of a group of three muscles fibularis (peronæus) longus, brevis, and tertius originating on the fibula and inserting on the metatarsals. EHDAA:8297|EMAPA:36251|EHDAA2:0001450 hp.json fibularis|fibularis muscle|peroneal muscle|peroneal muscle group|peroneus muscle|peronæus muscle|peroneal muscles http://purl.obolibrary.org/obo/UBERON_0009132 pheno_slim HP:0009304 biolink:PhenotypicFeature Patchy sclerosis of the distal phalanx of the 4th finger Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger. UMLS:C4024456 hp.json Uneven increase in bone density in the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009304 UBERON:0009133 biolink:AnatomicalEntity pleuroperitoneal membrane A fold of tissue which extends into the peritoneal cavity of the developing embryo and participates in the separation of the pleural and peritoneal cavities. SCTID:361429005|UMLS:C1283968|EMAPA:17709|VHOG:0000757|NCIT:C34256|EHDAA2:0001483|Wikipedia:Pleuroperitoneal hp.json pleuroperitoneal fold|pleuroperitoneal membranes http://purl.obolibrary.org/obo/UBERON_0009133 HP:0009303 biolink:PhenotypicFeature Osteolytic defects of the distal phalanx of the 4th finger Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger. UMLS:C4024457 hp.json http://purl.obolibrary.org/obo/HP_0009303 GO:1990777 biolink:CellularComponent lipoprotein particle A spherical particle containing non-covalently associated proteins and lipids. Examples are plasma lipoprotein particles which transport lipids in the blood or lymph. hp.json http://purl.obolibrary.org/obo/GO_1990777 HP:0009300 biolink:PhenotypicFeature Aplasia/Hypoplasia of the proximal phalanx of the 4th finger UMLS:C4020658 hp.json Absent/small innermost ring finger bone|Absent/underdeveloped innermost ring finger bone http://purl.obolibrary.org/obo/HP_0009300 GO:1990778 biolink:BiologicalProcess protein localization to cell periphery A process in which a protein is transported to, or maintained in, the cell periphery. hp.json http://purl.obolibrary.org/obo/GO_1990778 HP:0500001 biolink:PhenotypicFeature Body odor A perceived unpleasant smell given off by the body. hp.json Bromidrosis|Body odor|Body odour|BO|Osmidrosis|Bromhidrosis http://purl.obolibrary.org/obo/HP_0500001 HP:0034324 biolink:PhenotypicFeature Brachiocephalic artery aneurysm An abnormal widening (dilatation) of the brachiocephalic artery hp.json Dilatated brachiocephalic artery|Innominate artery aneurysm http://purl.obolibrary.org/obo/HP_0034324 HP:0000987 biolink:PhenotypicFeature Atypical scarring of skin Atypically scarred skin . UMLS:C4021786 hp.json Atypical scarring|Atypical scarring of skin http://purl.obolibrary.org/obo/HP_0000987 HP:0500005 biolink:PhenotypicFeature Anal pain Pain in and around the anus or rectum (perianal region). hp.json Rectal pain|Anal pain http://purl.obolibrary.org/obo/HP_0500005 HP:0034323 biolink:PhenotypicFeature Reduced circulating growth hormone concentration Concentration of growth hormone in the blood circulation below normal limits. hp.json http://purl.obolibrary.org/obo/HP_0034323 HP:0500007 biolink:PhenotypicFeature Iris flocculi Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. hp.json http://purl.obolibrary.org/obo/HP_0500007 HP:0000989 biolink:PhenotypicFeature Pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. SNOMEDCT_US:424492005|MSH:D011537|SNOMEDCT_US:418363000|SNOMEDCT_US:418290006|SNOMEDCT_US:279333002|UMLS:C0033774 hp.json Itching|Skin itching|Itchy skin http://purl.obolibrary.org/obo/HP_0000989 hposlim_core HP:0034326 biolink:PhenotypicFeature Adenomyosis Ectopic endometrial tissue within the uterine myometrium. hp.json http://purl.obolibrary.org/obo/HP_0034326 HP:0034325 biolink:PhenotypicFeature Common carotid artery aneurysm An abnormal widening (dilatation) of the common carotid artery. hp.json http://purl.obolibrary.org/obo/HP_0034325 HP:0000988 biolink:PhenotypicFeature Skin rash A red eruption of the skin. MSH:D005076|UMLS:C0015230|MEDDRA:10037844|SNOMEDCT_US:112625008|SNOMEDCT_US:271807003 hp.json Rash|Skin rash http://purl.obolibrary.org/obo/HP_0000988 HP:0500006 biolink:PhenotypicFeature Urethritis Inflammation of the urethra. hp.json http://purl.obolibrary.org/obo/HP_0500006 HP:0034320 biolink:PhenotypicFeature Muscle fiber intracytoplasmic reducing inclusion bodies Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain. hp.json Intracytoplasmic myofiber reducing inclusion bodies http://purl.obolibrary.org/obo/HP_0034320 HP:0500009 biolink:PhenotypicFeature Dysplastic gangliocytoma of the cerebellum It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. hp.json Lhermitte-Duclos disease|LDD http://purl.obolibrary.org/obo/HP_0500009 HP:0500008 biolink:PhenotypicFeature Cornea verticillata Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. hp.json Vortex keratopathy http://purl.obolibrary.org/obo/HP_0500008 HP:0034322 biolink:PhenotypicFeature Reduced galactocerebrosidase activity Diminished enzyme activity of galactocerebrosidase. hp.json http://purl.obolibrary.org/obo/HP_0034322 HP:0034321 biolink:PhenotypicFeature Elevated circulating guanidinoacetic acid concentration An increased concentration of guanidinoacetic acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034321 UBERON:0009129 biolink:AnatomicalEntity right atrium endocardium Endocardium that is part of the right atrium. VHOG:0001228|EHDAA2:0000274|FMA:7281|SCTID:3194006|NCIT:C102339 hp.json endocardium of right atrium|right atrium endocardial tissue|right atrial endocardium http://purl.obolibrary.org/obo/UBERON_0009129 HP:0000980 biolink:PhenotypicFeature Pallor Abnormally pale skin. SNOMEDCT_US:398979000|MSH:D010167|UMLS:C0030232 hp.json Paleness|Skin paleness http://purl.obolibrary.org/obo/HP_0000980 HP:0009317 biolink:PhenotypicFeature Deviation of the 3rd finger Displacement of the 3rd finger from its normal position. UMLS:C4021493 hp.json Deviated middle finger http://purl.obolibrary.org/obo/HP_0009317 HP:4000092 biolink:PhenotypicFeature Poor conversational reciprocity Reduced ability to conduct a reciprocal (back and forth) conversation characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable. hp.json Failure of normal back-and-forth conversation http://purl.obolibrary.org/obo/HP_4000092 HP:0034328 biolink:PhenotypicFeature Fibro-obliterative bile-duct lesion A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar. hp.json Fibro-obliterative bile-duct scarring|Fibro-obliterative loss of bile ducts http://purl.obolibrary.org/obo/HP_0034328 HP:0009316 biolink:PhenotypicFeature Abnormal 3rd finger phalanx morphology Abnormality of the phalanges of the 3rd (middle) finger. UMLS:C4021494 hp.json Abnormality of the middle finger bones|Abnormality of middle finger phalanges|Abnormality of 3rd finger phalanges|Abnormality of the phalanges of the 3rd finger http://purl.obolibrary.org/obo/HP_0009316 HP:0000982 biolink:PhenotypicFeature Palmoplantar keratoderma Abnormal thickening of the skin of the palms of the hands and the soles of the feet. MSH:D007645|UMLS:C0022596|SNOMEDCT_US:706885006 hp.json Thickening of palms and soles|Palmar and plantar keratoderma http://purl.obolibrary.org/obo/HP_0000982 HP:0034327 biolink:PhenotypicFeature Posterior corneal stroma punctiform multicolored opacities Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination. hp.json Punctiform multicolored opacities in the posterior corneal stroma http://purl.obolibrary.org/obo/HP_0034327 HP:0009319 biolink:PhenotypicFeature Joint contracture of the 3rd finger Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected. UMLS:C4021492 hp.json Camptodactyly of middle finger http://purl.obolibrary.org/obo/HP_0009319 HP:4000090 biolink:PhenotypicFeature Abnormal communicative gestures hp.json Abnormal gestures http://purl.obolibrary.org/obo/HP_4000090 HP:0009318 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 3rd finger A small/hypoplastic or absent/aplastic 3rd (middle) finger. UMLS:C4024446 hp.json Absent/small middle finger|Absent/underdeveloped middle finger http://purl.obolibrary.org/obo/HP_0009318 HP:0034329 biolink:PhenotypicFeature Dysplastic megalencephaly A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly. hp.json Bilateral hemimegalencephaly http://purl.obolibrary.org/obo/HP_0034329 HP:0009313 biolink:PhenotypicFeature Patchy sclerosis of the proximal phalanx of the 4th finger Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger. UMLS:C4024449 hp.json Uneven increase in bone density in the innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009313 HP:0009312 biolink:PhenotypicFeature Osteolytic defects of the proximal phalanx of the 4th finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger. UMLS:C4024450 hp.json http://purl.obolibrary.org/obo/HP_0009312 UBERON:0009122 biolink:AnatomicalEntity adenohypophyseal placode The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary. XAO:0004208|EFO:0000229|ZFA:0001198|TAO:0001198 hp.json pituitary placode http://purl.obolibrary.org/obo/UBERON_0009122 efo_slim HP:0009315 biolink:PhenotypicFeature Triangular shaped proximal phalanx of the 4th finger Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024447 hp.json Triangular shaped innermost bone of the 4th finger|Triangular shaped innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009315 HP:0009314 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanx of the 4th finger Fusion of the proximal phalanx of the 4th finger with another bone. UMLS:C4024448 hp.json Fused innermost bone of ring finger http://purl.obolibrary.org/obo/HP_0009314 UBERON:0009124 biolink:AnatomicalEntity geniculate placode Rostralmost epibranchial placode. Associated with 1st branchial cleft. TAO:0001295|EHDAA2:0004206|XAO:0004211|ZFA:0001295 hp.json facial placode|hyoid VII placode|facial epibranchial placode|facial VII placode|epibranchial placode 1|hyoid placode http://purl.obolibrary.org/obo/UBERON_0009124 UBERON:0009125 biolink:AnatomicalEntity petrosal placode Epibranchial placode between geniculate and nodose. Associated with 2nd branchial cleft. TAO:0001296|EHDAA2:0004207|XAO:0004212|ZFA:0001296 hp.json glossopharyngeal epibranchial placode|epibranchial placode 2|glossopharyngeal placode|glossopharyngeal IX placode http://purl.obolibrary.org/obo/UBERON_0009125 HP:0009311 biolink:PhenotypicFeature Bullet-shaped proximal phalanx of the 4th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected. UMLS:C4024451 hp.json Bullet-shaped innermost ring finger bone http://purl.obolibrary.org/obo/HP_0009311 UBERON:0009126 biolink:AnatomicalEntity nodosal placode Caudalmost epibranchial placode. Associated with 3rd branchial cleft. EHDAA2:0004208|XAO:0004213 hp.json nodose placode|vagal epibranchial placode|vagal X placode|vagal epibranchial placodes|nodose placodes|epibranchial placode 3|vagal placode http://purl.obolibrary.org/obo/UBERON_0009126 HP:0009310 biolink:PhenotypicFeature Broad proximal phalanx of the 4th finger Increased width of the proximal phalanx of the 4th finger. UMLS:C4020660 hp.json Broad innermost ring finger bone http://purl.obolibrary.org/obo/HP_0009310 UBERON:0009127 biolink:AnatomicalEntity epibranchial ganglion Cranial ganglion which develops from an epibranchial placode. ZFA:0001555|TAO:0001555 hp.json epibranchial ganglia http://purl.obolibrary.org/obo/UBERON_0009127 HP:0010360 biolink:PhenotypicFeature Broad phalanges of the 3rd toe UMLS:C4023881 hp.json Wide bones of 3rd toe http://purl.obolibrary.org/obo/HP_0010360 HP:0009371 biolink:PhenotypicFeature Type A1 brachydactyly UMLS:C1862151|MSH:C537088|SNOMEDCT_US:715720006 hp.json http://purl.obolibrary.org/obo/HP_0009371 dc:title biolink:NamedThing title http://purl.org/dc/elements/1.1/title hp.json http://purl.org/dc/elements/1.1/title HP:0009370 biolink:PhenotypicFeature Type A brachydactyly UMLS:C4024413 hp.json http://purl.obolibrary.org/obo/HP_0009370 UBERON:0009191 biolink:AnatomicalEntity sphenoid bone pre-cartilage condensation A sphenoid endochondral element that is composed primarily of a pre-cartilage condensation. EMAPA:18015|EHDAA2:0003446 hp.json http://purl.obolibrary.org/obo/UBERON_0009191 HP:0009373 biolink:PhenotypicFeature Type C brachydactyly MSH:C537093|UMLS:C1862103 hp.json http://purl.obolibrary.org/obo/HP_0009373 HP:0009372 biolink:PhenotypicFeature Type A2 brachydactyly MSH:C537089|UMLS:C1832702 hp.json Short index fingers and second toes http://purl.obolibrary.org/obo/HP_0009372 UBERON:0009193 biolink:AnatomicalEntity sphenoid cartilage element A sphenoid endochondral element that is composed primarily of cartilage tissue. EHDAA2:0001888 hp.json sphenoid bone cartilage condensation http://purl.obolibrary.org/obo/UBERON_0009193 UBERON:0010183 biolink:AnatomicalEntity liver trabecula A trabecula that is part of a liver. hp.json liver trabeculae|hepatic trabecula http://purl.obolibrary.org/obo/UBERON_0010183 UBERON:0009196 biolink:AnatomicalEntity indifferent external genitalia EHDAA2:0004021 hp.json http://purl.obolibrary.org/obo/UBERON_0009196 organ_slim HP:0010368 biolink:PhenotypicFeature Abnormality of the distal phalanx of the 3rd toe UMLS:C4023878 hp.json Abnormality of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0010368 UBERON:0010186 biolink:AnatomicalEntity male urethral gland Any of the numerous small mucous-secreting glands located in the wall of the penile urethra. FMA:21443|EMAPA:29645|UMLS:C1314737|NCIT:C49311 hp.json gland of male urethra|glandulae urethrales urethrae masculinae|urethral gland (male)|Littre's gland|gland of Littre|male urethra gland http://purl.obolibrary.org/obo/UBERON_0010186 pheno_slim HP:0010367 biolink:PhenotypicFeature Duplication of phalanx of the 3rd toe Partial or complete duplication of phalanx of third toe. UMLS:C4021282 hp.json Partial/complete duplication of the phalanges of the 3rd toe|Duplication of phalanx of the third toe|Duplication of 3rd toe bone http://purl.obolibrary.org/obo/HP_0010367 UBERON:0010187 biolink:AnatomicalEntity female urethral gland An urethral gland that is part of a female urethra. FMA:21444|EMAPA:29653 hp.json gland of female urethra|urethral gland (female)|female urethra gland http://purl.obolibrary.org/obo/UBERON_0010187 HP:0010366 biolink:PhenotypicFeature Triangular shaped phalanges of the 3rd toe UMLS:C4023879 hp.json Triangular shaped 3rd toe bones http://purl.obolibrary.org/obo/HP_0010366 HP:0010365 biolink:PhenotypicFeature Symphalangism affecting the phalanges of the 3rd toe UMLS:C4023880 hp.json Fused bones of 3rd toe http://purl.obolibrary.org/obo/HP_0010365 HP:0010364 biolink:PhenotypicFeature Patchy sclerosis of 3rd toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4021283 hp.json Uneven increase in bone density in 3rd toe bone|Patchy sclerosis of the phalanges of the 3rd toe http://purl.obolibrary.org/obo/HP_0010364 HP:0010363 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the 3rd toe UMLS:C4021825 hp.json http://purl.obolibrary.org/obo/HP_0010363 HP:0010362 biolink:PhenotypicFeature Curved 3rd toe phalanx A deviation from the normal straight form of one or more phalanges of the third toe. UMLS:C4021284 hp.json Curved bones of 3rd toe|Curved phalanges of the 3rd toe http://purl.obolibrary.org/obo/HP_0010362 UBERON:0010188 biolink:AnatomicalEntity protuberance A roughly circular bulge in a surface. EHDAA2:0003250|FMA:82506|AEO:0000205 hp.json http://purl.obolibrary.org/obo/UBERON_0010188 UBERON:0010189 biolink:AnatomicalEntity right atrium venous valve EMAPA:17328|MA:0001872|EHDAA2:0001762|EMAPA:17010 hp.json right venous valve http://purl.obolibrary.org/obo/UBERON_0010189 HP:0010361 biolink:PhenotypicFeature Bullet-shaped 3rd toe phalanx An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4021285 hp.json Bullet-shaped phalanges of the 3rd toe|Bullet-shaped bones of 3rd toe http://purl.obolibrary.org/obo/HP_0010361 HP:4000081 biolink:PhenotypicFeature Reduced use of typical gestures A diminished use of typical non-verbal conversational gestures such as shaing the head to indicate no or nodding the head to indicate yes. hp.json http://purl.obolibrary.org/obo/HP_4000081 HP:4000082 biolink:PhenotypicFeature Reduced collaborative play Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5. hp.json http://purl.obolibrary.org/obo/HP_4000082 HP:0010369 biolink:PhenotypicFeature Abnormality of the middle phalanx of the 3rd toe UMLS:C4023877 hp.json Abnormality of the middle bone of 3rd toe http://purl.obolibrary.org/obo/HP_0010369 HP:4000080 biolink:PhenotypicFeature Lack of social initiations Failure of a person to initiate social interactions with others. For a social interaction to have been initiated by someone, there must have been an absence of social interactions from either party for a period. The interaction must also be unprompted from another party. hp.json http://purl.obolibrary.org/obo/HP_4000080 HP:4000085 biolink:PhenotypicFeature Reduced object sharing An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life. hp.json http://purl.obolibrary.org/obo/HP_4000085 UBERON:0009198 biolink:AnatomicalEntity craniofacial suture Any suture between cranial and/or facial bones. hp.json joint of the skull bones|articulation of skull bones http://purl.obolibrary.org/obo/UBERON_0009198 UBERON:0009199 biolink:AnatomicalEntity facial suture Any suture between facial bones. hp.json http://purl.obolibrary.org/obo/UBERON_0009199 HP:4000083 biolink:PhenotypicFeature Absence of interest in peers Lack of interest of an individual for peers of comparable age and social groups. hp.json http://purl.obolibrary.org/obo/HP_4000083 HP:4000084 biolink:PhenotypicFeature Reduced sharing of interests Decreased sharing of interests with others. hp.json http://purl.obolibrary.org/obo/HP_4000084 HP:4000089 biolink:PhenotypicFeature Atypical facial expressions Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. hp.json http://purl.obolibrary.org/obo/HP_4000089 HP:4000087 biolink:PhenotypicFeature Abnormal facial expressions Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers) comprising abnormalities of quantity, range, context-appropriateness, and quality. hp.json Abnormal communicative facial expressions http://purl.obolibrary.org/obo/HP_4000087 HP:4000088 biolink:PhenotypicFeature Context-inappropriate facial expressions Production of facial expressions that are misaligned with the social context. hp.json http://purl.obolibrary.org/obo/HP_4000088 HP:0009382 biolink:PhenotypicFeature Absent epiphyses of the 5th finger Absence of one or more epiphyses of the 5th finger. UMLS:C4024407 hp.json Absent end part of little finger bone|Absent end part of pinky finger bone|Absent end part of pinkie finger bone http://purl.obolibrary.org/obo/HP_0009382 HP:0009381 biolink:PhenotypicFeature Short finger Abnormally short finger associated with developmental hypoplasia. UMLS:C0239594|UMLS:C1844548|SNOMEDCT_US:249765007 hp.json Hypoplastic/small fingers|Stubby finger|Hypoplastic fingers|Stubby fingers|Hypoplastic digits|Short finger http://purl.obolibrary.org/obo/HP_0009381 hposlim_core HP:0009384 biolink:PhenotypicFeature Cone-shaped epiphyses of the 5th finger A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. UMLS:C4024405 hp.json Cone-shaped end part of the pinky finger bones|Cone-shaped end part of the pinkie finger bones|Cone-shaped end part of the little finger bones http://purl.obolibrary.org/obo/HP_0009384 HP:0009383 biolink:PhenotypicFeature Bracket epiphyses of the 5th finger An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024406 hp.json Bracket shaped end part of pinky finger bone|Bracket shaped end part of little finger bone|Bracket shaped end part of pinkie finger bone http://purl.obolibrary.org/obo/HP_0009383 UBERON:0010171 biolink:AnatomicalEntity strand of hair of face A strand of hair that is part of a face. FMA:54360 hp.json facial hair|face hair strand|hair of face|face hair http://purl.obolibrary.org/obo/UBERON_0010171 pheno_slim UBERON:0010172 biolink:AnatomicalEntity bulb of aorta The portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles. BTO:0004695|FMA:3740 hp.json aortic bulb|aortic root|aorta bulb|bulb of ascending aorta|root of aorta|supraaortic valve area|bulbus aortae http://purl.obolibrary.org/obo/UBERON_0010172 pheno_slim HP:0009380 biolink:PhenotypicFeature Aplasia of the fingers Aplasia of one or more fingers. SNOMEDCT_US:71358006|UMLS:C0728895 hp.json Absent fingers http://purl.obolibrary.org/obo/HP_0009380 HP:0010357 biolink:PhenotypicFeature Abnormality of the middle phalanx of the 2nd toe UMLS:C4023884 hp.json Abnormality of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010357 HP:0010356 biolink:PhenotypicFeature Abnormality of the distal phalanx of the 2nd toe UMLS:C4023885 hp.json Abnormality of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010356 HP:0010355 biolink:PhenotypicFeature Duplication of the phalanges of the 2nd toe Partial or complete duplication of a phalanx of second toe. UMLS:C4021286 hp.json Partial/complete duplication of the phalanges of the 2nd toe|Duplication of the bones of the 2nd toe http://purl.obolibrary.org/obo/HP_0010355 HP:0010354 biolink:PhenotypicFeature Triangular shaped phalanges of the 2nd toe UMLS:C4023886 hp.json Triangular shaped bone of 2nd toe|Triangular shaped bone of second toe http://purl.obolibrary.org/obo/HP_0010354 HP:0010353 biolink:PhenotypicFeature Second toe symphalangism Fusion of the interphalangeal joints of the 2nd toe. UMLS:C4023887 hp.json Fused bones of 2nd toe|2nd toe symphalangism|Symphalangism affecting the phalanges of the 2nd toe http://purl.obolibrary.org/obo/HP_0010353 HP:0010352 biolink:PhenotypicFeature Patchy sclerosis of 2nd toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4021287 hp.json Uneven increase in bone density in 2nd toe bone|Patchy sclerosis of the phalanges of the 2nd toe http://purl.obolibrary.org/obo/HP_0010352 HP:0010351 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the 2nd toe UMLS:C4023888 hp.json http://purl.obolibrary.org/obo/HP_0010351 HP:0010350 biolink:PhenotypicFeature Curved 2nd toe phalanx A deviation from the normal straight form of one or more phalanges of the second toe. UMLS:C4021288 hp.json Curved bones of the 2nd toe|Curved phalanges of the 2nd toe http://purl.obolibrary.org/obo/HP_0010350 HP:4000070 biolink:PhenotypicFeature Circumscribed interests Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). hp.json Restricted interests http://purl.obolibrary.org/obo/HP_4000070 HP:0010359 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the 3rd toe UMLS:C4023882 hp.json Absent/small bones of 3rd toe|Absent/underdeveloped bones of 3rd toe http://purl.obolibrary.org/obo/HP_0010359 HP:0010358 biolink:PhenotypicFeature Abnormal morphology of the proximal phalanx of the 2nd toe UMLS:C4023883 hp.json Abnormality of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0010358 HP:0009379 biolink:PhenotypicFeature Rhomboid or triangular shaped 5th finger distal phalanx Rhomboid or triangular shaped 5th (little) finger distal phalanx. UMLS:C4024408 hp.json Rhomboid or triangular shaped little finger bone|Rhomboid or triangular shaped pinkie finger bone|Rhomboid or triangular shaped pinky finger bone http://purl.obolibrary.org/obo/HP_0009379 HP:4000074 biolink:PhenotypicFeature Idiosyncratic language Inappropriate use of words that have no phonological or semantic similarity to the intended word. hp.json http://purl.obolibrary.org/obo/HP_4000074 HP:0009378 biolink:PhenotypicFeature Triangular shaped phalanges of the 5th finger Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024409 hp.json Triangular shaped little finger bones|Triangular shaped pinky finger bones|Triangular shaped pinkie finger bones http://purl.obolibrary.org/obo/HP_0009378 HP:4000075 biolink:PhenotypicFeature Reduced production of facial expressions A behavioral abnormality marked by reduced use of communicative facial expressions. This may include individuals with a reduced range of facial expressions or those with a full range but who use them at a decreased rate. hp.json http://purl.obolibrary.org/obo/HP_4000075 HP:4000072 biolink:PhenotypicFeature Abnormal verbal communicative behavior Any abnormal behavior related to communication with language. hp.json http://purl.obolibrary.org/obo/HP_4000072 HP:4000073 biolink:PhenotypicFeature Pronoun reversal A type of language impairment in which incorrect pronouns are used; i.e., using 'I' for 'you' and/or 'you' for 'I' (e.g., a child saying 'You want some more milk' meaning 'I want some more milk'). Reversal errors involve the person component, such that 'I' and 'you' become confused. hp.json http://purl.obolibrary.org/obo/HP_4000073 HP:0009375 biolink:PhenotypicFeature Bullet-shaped phalanges of the 5th finger A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4024411 hp.json Bullet-shaped pinky finger bones|Bullet-shaped pinkie finger bones|Bullet-shaped little finger bones http://purl.obolibrary.org/obo/HP_0009375 HP:4000078 biolink:PhenotypicFeature Fixated interest with abnormal intensity An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person. hp.json http://purl.obolibrary.org/obo/HP_4000078 HP:4000079 biolink:PhenotypicFeature Sensory seeking Unusual interest in sensory aspects of the environment. hp.json http://purl.obolibrary.org/obo/HP_4000079 HP:0009374 biolink:PhenotypicFeature Broad phalanges of the 5th finger Increased width of the phalanges of the 5th finger. UMLS:C4024412 hp.json Broad pinkie finger bones|Broad little finger bones|Broad pinky finger bones http://purl.obolibrary.org/obo/HP_0009374 HP:0009377 biolink:PhenotypicFeature Patchy sclerosis of 5th finger phalanx Uneven increase in bone density of one or more of the phalanges of the 5th finger. UMLS:C4021484 hp.json Uneven increase in bone density in pinky finger bone|Patchy sclerosis of the phalanges of the 5th finger|Uneven increase in bone density in little finger bone|Uneven increase in bone density in pinkie finger bone http://purl.obolibrary.org/obo/HP_0009377 HP:4000076 biolink:PhenotypicFeature Hand-leading gestures Taking other people by the hand to places they wish them to move to or taking someone's hand to objects they want them to manipulate. hp.json Hand-taking gestures http://purl.obolibrary.org/obo/HP_4000076 HP:0009376 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the 5th finger Aplasia/Hypoplasia of the phalanges of the 5th finger. UMLS:C4024410 hp.json Absent/underdeveloped pinky finger bones|Absent/small pinkie finger bones|Absent/small pinky finger bones|Absent/small little finger bones http://purl.obolibrary.org/obo/HP_0009376 HP:4000077 biolink:PhenotypicFeature Fixated interest with abnormal focus A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners. hp.json http://purl.obolibrary.org/obo/HP_4000077 HP:4000069 biolink:PhenotypicFeature Persistent preoccupation with parts of objects A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car. hp.json http://purl.obolibrary.org/obo/HP_4000069 HP:0009351 biolink:PhenotypicFeature Irregular epiphysis of the proximal phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger. UMLS:C4024418 hp.json Irregular end part of innermost long bone of the middle finger http://purl.obolibrary.org/obo/HP_0009351 HP:0009350 biolink:PhenotypicFeature Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger. UMLS:C4024419 hp.json Fragmentation of end part of innermost long bone of the middle finger http://purl.obolibrary.org/obo/HP_0009350 UBERON:0010160 biolink:AnatomicalEntity lumen of lymphatic vessel An anatomical cavity that surrounded_by a lymphatic vessel. FMA:59681 hp.json lymphatic vessel lumen|lumen of lymphatic duct http://purl.obolibrary.org/obo/UBERON_0010160 UBERON:0010161 biolink:AnatomicalEntity lumen of blood vessel An anatomical cavity that surrounded_by a blood vessel. FMA:312610|SCTID:91747007 hp.json blood vessel lumen http://purl.obolibrary.org/obo/UBERON_0010161 UBERON:0010164 biolink:AnatomicalEntity collection of hairs An anatomical cluster that composed_primarily_of a strand of hair. FMA:70752 hp.json hairs|pili|set of hairs|hairs set http://purl.obolibrary.org/obo/UBERON_0010164 HP:0010345 biolink:PhenotypicFeature Flexion contracture of the 5th toe One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively. UMLS:C4021290 hp.json Joint contractures of the 5th toe http://purl.obolibrary.org/obo/HP_0010345 UBERON:0010165 biolink:AnatomicalEntity collection of hair on face A collection of hairs that is part of a face. FMA:70741 hp.json facial hairs set|facial hair|set of facial hairs http://purl.obolibrary.org/obo/UBERON_0010165 phenotype_rcn UBERON:0010162 biolink:AnatomicalEntity post-anal tail tip The distal end of the tail. MA:0002848|EMAPA:37760|XAO:0004057 hp.json end of tail|tail tip http://purl.obolibrary.org/obo/UBERON_0010162 pheno_slim HP:0010344 biolink:PhenotypicFeature Deviation of the 5th toe UMLS:C4021291 hp.json Displacement of the 5th toe|Displacement of the pinkie toe|Displacement of the little toe|Displacement of the pinky toe http://purl.obolibrary.org/obo/HP_0010344 UBERON:0010163 biolink:AnatomicalEntity eyebrow The eyebrow is an area of thick, delicate hairs above the eye that follows the shape of the lower margin of the brow ridges. Their main function is to protect the eye, but they are also important to human communication and facial expression. It is not uncommon for people to modify their eyebrows by means of hair addition or removal, make up, or piercings. FMA:54237|UMLS:C0015420|NCIT:C32575|MESH:D005138 hp.json supercilium http://purl.obolibrary.org/obo/UBERON_0010163 phenotype_rcn|pheno_slim HP:0010343 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 5th toe UMLS:C4023891 hp.json Absent/underdeveloped pinky toe|Absent/small little toe|Absent/small pinky toe|Absent/small pinkie toe http://purl.obolibrary.org/obo/HP_0010343 HP:0010342 biolink:PhenotypicFeature Abnormality of the phalanges of the 5th toe UMLS:C4023892 hp.json Abnormality of the pinkie toe bones|Abnormality of the pinky toe bones|Abnormality of the little toe bones http://purl.obolibrary.org/obo/HP_0010342 UBERON:0010168 biolink:AnatomicalEntity collection of eyelashes A collection of hair on face that is part of a eyelash. FMA:70742 hp.json cilia|set of eyelashes|eyelashes set|eyelashes http://purl.obolibrary.org/obo/UBERON_0010168 HP:0010341 biolink:PhenotypicFeature Abnormality of the epiphyses of the 5th toe UMLS:C4023893 hp.json Abnormality of the end part of the little toe bone|Abnormality of the end part of the pinky toe bone|Abnormality of the end part of the pinkie toe bone http://purl.obolibrary.org/obo/HP_0010341 HP:0010340 biolink:PhenotypicFeature Polydactyly affecting the 4th toe UMLS:C4023894 hp.json http://purl.obolibrary.org/obo/HP_0010340 HP:0010349 biolink:PhenotypicFeature Bullet-shaped 2nd toe phalanx An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4021289 hp.json Bullet-shaped phalanges of the 2nd toe|Bullet-shaped bones of the 2nd toe http://purl.obolibrary.org/obo/HP_0010349 HP:0009349 biolink:PhenotypicFeature Enlarged epiphysis of the proximal phalanx of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. UMLS:C4021488 hp.json Enlarged end part of innermost long bone of the middle finger|Large epiphysis of proximal middle-finger phalanx http://purl.obolibrary.org/obo/HP_0009349 HP:4000060 biolink:PhenotypicFeature Abnormal pulmonary alveolar system development hp.json http://purl.obolibrary.org/obo/HP_4000060 HP:0010348 biolink:PhenotypicFeature Broad phalanges of the 2nd toe UMLS:C4023889 hp.json Broad bones of the 2nd toe http://purl.obolibrary.org/obo/HP_0010348 HP:0010347 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the 2nd toe UMLS:C4023890 hp.json Absent/small bones of 2nd toe|Absent/underdeveloped bones of 2nd toe http://purl.obolibrary.org/obo/HP_0010347 HP:0009346 biolink:PhenotypicFeature Absent epiphysis of the proximal phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger. UMLS:C4024422 hp.json Absent end part of innermost long bone of the middle finger http://purl.obolibrary.org/obo/HP_0009346 HP:0009345 biolink:PhenotypicFeature Triangular epiphysis of the distal phalanx of the 3rd finger A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4021489 hp.json Triangular end part of the outermost long bone of the middle finger|Delta-shaped epiphysis of the distal phalanx of the 3rd finger http://purl.obolibrary.org/obo/HP_0009345 HP:0009348 biolink:PhenotypicFeature Cone-shaped epiphysis of the proximal phalanx of the 3rd finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4024420 hp.json Cone-shaped end part of the innermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009348 HP:4000061 biolink:PhenotypicFeature Pancreatic alpha-cell hyperplasia A diffuse and specific increase in the number of alpha-cells. hp.json http://purl.obolibrary.org/obo/HP_4000061 HP:0009347 biolink:PhenotypicFeature Bracket epiphysis of the proximal phalanx of the 3rd finger An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024421 hp.json Bracket shaped end part of innermost long bone of the middle finger http://purl.obolibrary.org/obo/HP_0009347 HP:4000062 biolink:PhenotypicFeature 3-4 metacarpal synostosis A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers). hp.json Synostosis of third and the fourth metacarpal bones|Fused third and fourth metacarpals|Middle and ring finger metacarpal synostosis http://purl.obolibrary.org/obo/HP_4000062 HP:0009342 biolink:PhenotypicFeature Pseudoepiphysis of the distal phalanx of the 3rd finger A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024425 hp.json Pseudoepiphysis of the outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009342 HP:4000067 biolink:PhenotypicFeature Iliac artery aneurysm Abnormal outpouching or sac-like dilatation in the iliac artery. hp.json http://purl.obolibrary.org/obo/HP_4000067 HP:4000068 biolink:PhenotypicFeature Abnormal interest Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something. hp.json http://purl.obolibrary.org/obo/HP_4000068 HP:0009341 biolink:PhenotypicFeature Ivory epiphysis of the distal phalanx of the 3rd finger Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024426 hp.json Increased bone density of end part of the outermost middle finger bone http://purl.obolibrary.org/obo/HP_0009341 HP:0009344 biolink:PhenotypicFeature Stippling of the epiphysis of the distal phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger. UMLS:C4024423 hp.json Speckled calcifications in end part of the outermost long bone of the middle finger http://purl.obolibrary.org/obo/HP_0009344 HP:4000066 biolink:PhenotypicFeature Abnormal iliac artery morphology Any structural anomaly of the iliac artery. hp.json http://purl.obolibrary.org/obo/HP_4000066 HP:0009343 biolink:PhenotypicFeature Small epiphysis of the distal phalanx of the 3rd finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. UMLS:C4024424 hp.json Small end part of the outermost long bone of the middle finger http://purl.obolibrary.org/obo/HP_0009343 HP:4000058 biolink:PhenotypicFeature Glomerular proteinuria A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. PMID: 19634399 hp.json http://purl.obolibrary.org/obo/HP_4000058 HP:4000059 biolink:PhenotypicFeature Abnormal lung development A structural defect associated with abnormal development of the lung. hp.json Developmental pulmonary anomaly http://purl.obolibrary.org/obo/HP_4000059 HP:0010335 biolink:PhenotypicFeature Abnormality of the epiphyses of the 4th toe UMLS:C4023897 hp.json Abnormality of the end part of the 4th toe bone http://purl.obolibrary.org/obo/HP_0010335 HP:0010334 biolink:PhenotypicFeature Polydactyly affecting the 3rd toe UMLS:C4023898 hp.json http://purl.obolibrary.org/obo/HP_0010334 HP:0010333 biolink:PhenotypicFeature Flexion contracture of 3rd toe One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively. UMLS:C4021294 hp.json Joint contractures of the 3rd toe http://purl.obolibrary.org/obo/HP_0010333 UBERON:0010152 biolink:AnatomicalEntity skin mucus A mucous secretion that is produced by glands in the epidermis. hp.json epidermal mucus|skin mucous http://purl.obolibrary.org/obo/UBERON_0010152 HP:0010332 biolink:PhenotypicFeature Deviation of the 3rd toe UMLS:C4021295 hp.json Displacement of the 3rd toe http://purl.obolibrary.org/obo/HP_0010332 HP:0010331 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 3rd toe UMLS:C1862698 hp.json Absent/underdeveloped 3rd toe|Absent/hypoplastic third toe|Absent/small 3rd toe http://purl.obolibrary.org/obo/HP_0010331 UBERON:0010157 biolink:AnatomicalEntity sphenoparietal suture The Sphenoparietal suture is the cranial suture between the sphenoid bone and the parietal bone. FMA:52945 hp.json sutura sphenoparietalis|spheno-parietal suture|sphenoparietal suture of skull http://purl.obolibrary.org/obo/UBERON_0010157 HP:0010330 biolink:PhenotypicFeature Abnormality of the phalanges of the 3rd toe UMLS:C4023899 hp.json Abnormality of the bones of the 3rd toe http://purl.obolibrary.org/obo/HP_0010330 UBERON:0010158 biolink:AnatomicalEntity sphenozygomatic suture The Sphenozygomatic suture is the cranial suture between the sphenoid bone and the zygomatic bone. FMA:52956 hp.json sphenozygomatica suture of skull|sutura sphenozygomatica http://purl.obolibrary.org/obo/UBERON_0010158 UBERON:0010155 biolink:AnatomicalEntity parietomastoid suture Unites the mastoid process of the temporal with the region of the mastoid angle of the parietal[WP:Squamosal_suture]. FMA:52947 hp.json parieto-mastoid suture of skull|parietomastoid suture of skull http://purl.obolibrary.org/obo/UBERON_0010155 UBERON:0010156 biolink:AnatomicalEntity sphenofrontal suture The Sphenofrontal suture is the cranial suture between the sphenoid bone and the frontal bone. FMA:52938 hp.json sutura sphenofrontalis|frontosphenoid suture|sphenofrontal suture of skull|sphenofrontal|sutura sphenofrontalis|spheno-frontal suture http://purl.obolibrary.org/obo/UBERON_0010156 HP:0010339 biolink:PhenotypicFeature Flexion contracture of the 4th toe One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively. UMLS:C4021292 hp.json Joint contractures of the 4th toe http://purl.obolibrary.org/obo/HP_0010339 HP:0010338 biolink:PhenotypicFeature Deviation of the 4th toe UMLS:C4021293 hp.json Displacement of the 4th toe http://purl.obolibrary.org/obo/HP_0010338 HP:0010337 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 4th toe UMLS:C4023895 hp.json Absent/underdeveloped 4th toe|Absent/small 4th toe http://purl.obolibrary.org/obo/HP_0010337 HP:0010336 biolink:PhenotypicFeature Abnormality of the phalanges of the 4th toe UMLS:C4023896 hp.json http://purl.obolibrary.org/obo/HP_0010336 HP:4000052 biolink:PhenotypicFeature Avulsion fracture A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma. hp.json http://purl.obolibrary.org/obo/HP_4000052 HP:0009357 biolink:PhenotypicFeature Abnormality of the distal phalanx of the 3rd finger UMLS:C4021486 hp.json Abnormality of the outermost bone of the 3rd finger|Abnormality of terminal phalanx of middle-finger http://purl.obolibrary.org/obo/HP_0009357 HP:4000053 biolink:PhenotypicFeature Displaced fracture A type of fracture in which the ends of the fractured bone are no longer aligned. hp.json http://purl.obolibrary.org/obo/HP_4000053 HP:0009356 biolink:PhenotypicFeature Triangular epiphysis of the proximal phalanx of the 3rd finger A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4021487 hp.json Delta-shaped epiphysis of the proximal phalanx of the 3rd finger|Triangular end part of innermost long bone of the middle finger http://purl.obolibrary.org/obo/HP_0009356 HP:4000050 biolink:PhenotypicFeature Open fracture A type of fracture in which there is an open wound or break in the skin near the site of the broken bone. hp.json Compound fracture http://purl.obolibrary.org/obo/HP_4000050 HP:4000051 biolink:PhenotypicFeature Closed fracture A type of fracture in which the broken bone that does not penetrate the skin. hp.json http://purl.obolibrary.org/obo/HP_4000051 HP:0009358 biolink:PhenotypicFeature Abnormality of the proximal phalanx of the 3rd finger UMLS:C4021485 hp.json Abnormality of proximal middle-finger phalanx|Abnormal innermost bone of middle finger http://purl.obolibrary.org/obo/HP_0009358 HP:4000056 biolink:PhenotypicFeature Abnormal apoptosis Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. hp.json http://purl.obolibrary.org/obo/HP_4000056 HP:0009353 biolink:PhenotypicFeature Pseudoepiphysis of the proximal phalanx of the 3rd finger A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024416 hp.json http://purl.obolibrary.org/obo/HP_0009353 HP:4000057 biolink:PhenotypicFeature Decreased FasL-mediated apoptosis A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis. hp.json http://purl.obolibrary.org/obo/HP_4000057 HP:0009352 biolink:PhenotypicFeature Ivory epiphysis of the proximal phalanx of the 3rd finger Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024417 hp.json Increased bone density of end part of the innermost middle finger bone http://purl.obolibrary.org/obo/HP_0009352 HP:4000054 biolink:PhenotypicFeature Exanthem A widespread rash. hp.json http://purl.obolibrary.org/obo/HP_4000054 HP:0009355 biolink:PhenotypicFeature Stippling of the epiphysis of the proximal phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger. UMLS:C4024414 hp.json Speckled calcifications in end part of innermost long bone of the middle finger http://purl.obolibrary.org/obo/HP_0009355 HP:4000055 biolink:PhenotypicFeature Intestinal inflammation A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract. hp.json http://purl.obolibrary.org/obo/HP_4000055 HP:0009354 biolink:PhenotypicFeature Small epiphysis of the proximal phalanx of the 3rd finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. UMLS:C4024415 hp.json Small end part of innermost long bone of the middle finger http://purl.obolibrary.org/obo/HP_0009354 HP:0000918 biolink:PhenotypicFeature Scapular exostoses The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. UMLS:C1851415 hp.json Shoulder bone exostoes|Scapulae exostoses http://purl.obolibrary.org/obo/HP_0000918 GO:0001653 biolink:MolecularActivity peptide receptor activity Combining with an extracellular or intracellular peptide to initiate a change in cell activity. hp.json endogenous peptide receptor activity|exogenous peptide receptor activity http://purl.obolibrary.org/obo/GO_0001653 HP:0000917 biolink:PhenotypicFeature Superior pectus carinatum Pectus carinatum affecting primarily the superior part of the sternum. UMLS:C1864795 hp.json Pectus carinatum superiorly http://purl.obolibrary.org/obo/HP_0000917 GO:0001654 biolink:BiologicalProcess eye development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. Wikipedia:Eye_development hp.json http://purl.obolibrary.org/obo/GO_0001654 GO:0001655 biolink:BiologicalProcess urogenital system development The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0001655 HP:0000919 biolink:PhenotypicFeature Abnormality of the costochondral junction Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. UMLS:C4021791 hp.json Costochondral juctions abnormal http://purl.obolibrary.org/obo/HP_0000919 HP:0000910 biolink:PhenotypicFeature Wide-cupped costochondral junctions UMLS:C1861213 hp.json http://purl.obolibrary.org/obo/HP_0000910 HP:0000912 biolink:PhenotypicFeature Sprengel anomaly A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). MEDDRA:10010455|UMLS:C0152438|MSH:C535802|SNOMEDCT_US:79120002 hp.json High shoulder blade|Congenital, upward displacement of the scapula|Sprengel deformity|High scapula http://purl.obolibrary.org/obo/HP_0000912 hposlim_core HP:0000911 biolink:PhenotypicFeature Flat glenoid fossa Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. UMLS:C1855177 hp.json http://purl.obolibrary.org/obo/HP_0000911 HP:0000914 biolink:PhenotypicFeature Shield chest A broad chest. UMLS:C1834124|UMLS:C1839248 hp.json Shield chest|Broad chest http://purl.obolibrary.org/obo/HP_0000914 HP:0000913 biolink:PhenotypicFeature Posterior rib fusion Complete or partial merging of the posterior part of adjacent ribs. UMLS:C1842084 hp.json http://purl.obolibrary.org/obo/HP_0000913 HP:0000916 biolink:PhenotypicFeature Broad clavicles Increased width (cross-sectional diameter) of the clavicles. SNOMEDCT_US:249680009|UMLS:C0426801 hp.json Broad collarbone http://purl.obolibrary.org/obo/HP_0000916 hposlim_core CHEBI:27594 biolink:ChemicalSubstance carbon atom KEGG:C06265|WebElements:C|CAS:7440-44-0|CAS:7440-44-0 hp.json carbone|carbonium|C|Carbon|carbono|carbon|6C|Kohlenstoff|carbon|C http://purl.obolibrary.org/obo/CHEBI_27594 3_STAR GO:1904795 biolink:BiologicalProcess positive regulation of euchromatin binding Any process that activates or increases the frequency, rate or extent of euchromatin binding. hp.json up regulation of euchromatin binding|activation of euchromatin binding|upregulation of euchromatin binding|up-regulation of euchromatin binding http://purl.obolibrary.org/obo/GO_1904795 HP:0000915 biolink:PhenotypicFeature Pectus excavatum of inferior sternum Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. UMLS:C1864796 hp.json Pectus excavatum inferiorly http://purl.obolibrary.org/obo/HP_0000915 HP:0012900 biolink:PhenotypicFeature Myotonia of the face Slowed relaxation of muscles in the face. UMLS:C4022686 hp.json http://purl.obolibrary.org/obo/HP_0012900 HP:0012901 biolink:PhenotypicFeature Myotonia of the jaw Slowed relaxation of muscles in the jaw. UMLS:C4022685 hp.json http://purl.obolibrary.org/obo/HP_0012901 HP:0012902 biolink:PhenotypicFeature Myotonia of the lower limb Slowed relaxation of muscles in the leg. UMLS:C4022684 hp.json http://purl.obolibrary.org/obo/HP_0012902 HP:0012903 biolink:PhenotypicFeature Myotonia of the upper limb Slowed relaxation of muscles in the arm. UMLS:C4022683 hp.json http://purl.obolibrary.org/obo/HP_0012903 HP:0012904 biolink:PhenotypicFeature Cold-sensitive myotonia An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold. UMLS:C4022682 hp.json http://purl.obolibrary.org/obo/HP_0012904 HP:0012905 biolink:PhenotypicFeature Euryblepharon Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. UMLS:C1303001|UMLS:C4280305|SNOMEDCT_US:400954002 hp.json Kabuki syndrome eyelids http://purl.obolibrary.org/obo/HP_0012905 GO:0001659 biolink:BiologicalProcess temperature homeostasis A homeostatic process in which an organism modulates its internal body temperature. Wikipedia:Thermoregulation hp.json thermoregulation http://purl.obolibrary.org/obo/GO_0001659 HP:0000929 biolink:PhenotypicFeature Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. UMLS:C0235942 hp.json Abnormality of the skull|Abnormality of the skull bones http://purl.obolibrary.org/obo/HP_0000929 GO:0001667 biolink:BiologicalProcess ameboidal-type cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. hp.json ameboid cell migration|amoeboidal cell migration|amoeboid cell migration http://purl.obolibrary.org/obo/GO_0001667 HP:0000921 biolink:PhenotypicFeature Missing ribs A developmental anomaly with absence of one or more ribs. UMLS:C0426816|SNOMEDCT_US:249695006 hp.json Decreased rib number|Missing ribs|Absent ribs http://purl.obolibrary.org/obo/HP_0000921 hposlim_core HP:0000920 biolink:PhenotypicFeature Enlargement of the costochondral junction Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. UMLS:C1857180 hp.json Wide costochondral junctions|Enlarged costochondral junctions|Prominent costochondral junction|Costochondral thickening|Widened costochondral junction http://purl.obolibrary.org/obo/HP_0000920 hposlim_core HP:0000923 biolink:PhenotypicFeature Beaded ribs The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage. UMLS:C0426824 hp.json http://purl.obolibrary.org/obo/HP_0000923 HP:0000922 biolink:PhenotypicFeature Posterior rib cupping Wide, concave posterior rib end. UMLS:C1837483 hp.json Anterior and posterior rib cupping http://purl.obolibrary.org/obo/HP_0000922 HP:0000925 biolink:PhenotypicFeature Abnormality of the vertebral column Any abnormality of the vertebral column. UMLS:C4020882|UMLS:C4021789 hp.json Abnormal spine|Abnormality of the vertebral column|Abnormality of the spine|Abnormality of the backbone|Abnormal vertebral column http://purl.obolibrary.org/obo/HP_0000925 hposlim_core HP:0000924 biolink:PhenotypicFeature Abnormality of the skeletal system An abnormality of the skeletal system. UMLS:C4021790 hp.json Skeletal abnormalities|Skeletal anomalies|Abnormality of the skeletal system http://purl.obolibrary.org/obo/HP_0000924 HP:0000927 biolink:PhenotypicFeature Abnormality of skeletal maturation The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. UMLS:C4025818 hp.json Abnormality of skeletal maturation http://purl.obolibrary.org/obo/HP_0000927 HP:0000926 biolink:PhenotypicFeature Platyspondyly A flattened vertebral body shape with reduced distance between the vertebral endplates. UMLS:C1844704 hp.json Flattened vertebrae|Flattened vertebral bodies|Flat vertebral bodies http://purl.obolibrary.org/obo/HP_0000926 hposlim_core GO:0098542 biolink:BiologicalProcess defense response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. hp.json defence response to pathogen, incompatible interaction|defence response incompatible interaction|resistance response to pathogen|defense response, incompatible interaction http://purl.obolibrary.org/obo/GO_0098542 goslim_generic|prokaryote_subset CHEBI:27570 biolink:ChemicalSubstance histidine An alpha-amino acid that is propanoic acid bearing an amino substituent at position 2 and a 1H-imidazol-4-yl group at position 3. PMID:22770225|Wikipedia:Histidine|KNApSAcK:C00001363|CAS:4998-57-6|PMID:17190852|PMID:29286160|Gmelin:3656|Reaxys:84087|Beilstein:84087|KEGG:C00768|PMID:22264337 hp.json DL-Histidine|histidine|alpha-Amino-1H-imidazole-4-propionic acid|Histidin|histidina|Histidine|2-amino-3-(1H-imidazol-4-yl)propanoic acid http://purl.obolibrary.org/obo/CHEBI_27570 3_STAR HP:0000907 biolink:PhenotypicFeature Anterior rib cupping Wide, concave anterior rib end. UMLS:C1846154 hp.json Anterior cupping of ribs|Anteriorly splayed ribs http://purl.obolibrary.org/obo/HP_0000907 CHEBI:27584 biolink:ChemicalSubstance aldosterone A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. Wikipedia:Aldosterone|Beilstein:3224996|Reaxys:3224996|PDBeChem:AS4|KEGG:C01780|HMDB:HMDB0000037|Drug_Central:111|CAS:52-39-1|PMID:10438974|CAS:52-39-1|CAS:52-39-1|DrugBank:DB04630|LINCS:LSM-42770|LIPID_MAPS_instance:LMST02030026 hp.json (11beta)-11,21-dihydroxy-3,20-dioxopregn-4-en-18-al|ALDOSTERONE|11beta,21-dihydroxy-3,20-dioxopregn-4-en-18-al|aldosterone|11beta,21-Dihydroxy-3,20-dioxo-4-pregnen-18-al|(+)-aldosterone|Aldosterone http://purl.obolibrary.org/obo/CHEBI_27584 3_STAR HP:0000900 biolink:PhenotypicFeature Thickened ribs Increased thickness (diameter) of ribs. SNOMEDCT_US:249699000|UMLS:C0426820 hp.json http://purl.obolibrary.org/obo/HP_0000900 hposlim_core HP:0000902 biolink:PhenotypicFeature Rib fusion Complete or partial merging of adjacent ribs. UMLS:C1844749 hp.json Rib fusion|Fused ribs http://purl.obolibrary.org/obo/HP_0000902 HP:0000905 biolink:PhenotypicFeature Progressive clavicular acroosteolysis Progressive bone resorption in the distal part of the clavicle. UMLS:C1837757 hp.json Progressive acroosteolysis of the clavicle http://purl.obolibrary.org/obo/HP_0000905 HP:0000904 biolink:PhenotypicFeature Flaring of rib cage The presence of wide, concave anterior rib ends. UMLS:C1854780 hp.json Anterior flaring of ribs|Flaring of rib cage http://purl.obolibrary.org/obo/HP_0000904 GO:1902173 biolink:BiologicalProcess negative regulation of keratinocyte apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of keratinocyte apoptotic process. hp.json down-regulation of keratinocyte apoptosis|negative regulation of keratinocyte apoptosis|down regulation of keratinocyte apoptotic process|inhibition of keratinocyte apoptosis|inhibition of keratinocyte apoptotic process|down-regulation of keratinocyte apoptotic process|downregulation of keratinocyte apoptosis|down regulation of keratinocyte apoptosis|downregulation of keratinocyte apoptotic process http://purl.obolibrary.org/obo/GO_1902173 RO:0019001 biolink:NamedThing positively regulates characteristic A relationship that holds between a process and a characteristic in which process (P) positively regulates characteristic (C) iff: P results in an increase in the intensity or magnitude of C. RO:0019001 hp.json http://purl.obolibrary.org/obo/RO_0019001 GO:1902174 biolink:BiologicalProcess positive regulation of keratinocyte apoptotic process Any process that activates or increases the frequency, rate or extent of keratinocyte apoptotic process. hp.json activation of keratinocyte apoptotic process|activation of keratinocyte apoptosis|upregulation of keratinocyte apoptosis|positive regulation of keratinocyte apoptosis|upregulation of keratinocyte apoptotic process|up regulation of keratinocyte apoptosis|up-regulation of keratinocyte apoptosis|up regulation of keratinocyte apoptotic process|up-regulation of keratinocyte apoptotic process http://purl.obolibrary.org/obo/GO_1902174 RO:0019000 biolink:NamedThing regulates characteristic A relationship that holds between a process and a characteristic in which process (P) regulates characteristic (C) iff: P results in the existence of C OR affects the intensity or magnitude of C. RO:0019000 hp.json http://purl.obolibrary.org/obo/RO_0019000 GO:1902172 biolink:BiologicalProcess regulation of keratinocyte apoptotic process Any process that modulates the frequency, rate or extent of keratinocyte apoptotic process. hp.json regulation of keratinocyte apoptosis http://purl.obolibrary.org/obo/GO_1902172 RO:0019002 biolink:NamedThing negatively regulates characteristic A relationship that holds between a process and a characteristic in which process (P) negatively regulates characteristic (C) iff: P results in a decrease in the intensity or magnitude of C. RO:0019002 hp.json http://purl.obolibrary.org/obo/RO_0019002 HP:0000954 biolink:PhenotypicFeature Single transverse palmar crease The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. SNOMEDCT_US:248409006|UMLS:C0424731 hp.json Simian crease|Transverse palmar crease|Single flexion crease|Simian creases|Single transverse palmar creases|Single palmar crease|Single palmar creases|Simian line http://purl.obolibrary.org/obo/HP_0000954 hposlim_core HP:0000953 biolink:PhenotypicFeature Hyperpigmentation of the skin A darkening of the skin related to an increase in melanin production and deposition. MSH:D017495|UMLS:C0162834|SNOMEDCT_US:4830009|SNOMEDCT_US:49765009 hp.json Increased skin pigmentation|Melanodermia|Cutaneous hyperpigmentation|Patchy darkened skin|Hyperpigmented lesion|Melanoderma|Skin hyperpigmentation http://purl.obolibrary.org/obo/HP_0000953 HP:0000956 biolink:PhenotypicFeature Acanthosis nigricans A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. MSH:D000052|SNOMEDCT_US:72129000|UMLS:C0000889|SNOMEDCT_US:402599005 hp.json Darkened and thickened skin|Keratosis nigricans http://purl.obolibrary.org/obo/HP_0000956 secondary_consequence HP:0000958 biolink:PhenotypicFeature Dry skin Skin characterized by the lack of natural or normal moisture. SNOMEDCT_US:16386004|UMLS:C0151908|MEDDRA:10048222|UMLS:C0259817 hp.json Dry skin|Xerosis http://purl.obolibrary.org/obo/HP_0000958 hposlim_core HP:0000957 biolink:PhenotypicFeature Cafe-au-lait spot Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. UMLS:C0265974|MSH:D019080|UMLS:C0221263|SNOMEDCT_US:51089004|SNOMEDCT_US:201281002 hp.json Cafe-au-lait macule|Flat light-brown mark on skin|Cafe-au-lait macules|Cafe au lait spots|Birthmark|Cafe-au-lait spots http://purl.obolibrary.org/obo/HP_0000957 UBERON:0009117 biolink:AnatomicalEntity indifferent gonad A gonad prior to differentiating into a definitive testis or ovary. EHDAA2:0000716|UMLS:C1512703|NCIT:C34192 hp.json gonad rudiment http://purl.obolibrary.org/obo/UBERON_0009117 organ_slim HP:0000952 biolink:PhenotypicFeature Jaundice Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. MSH:D007565|SNOMEDCT_US:18165001|UMLS:C0022346 hp.json Jaundice|Yellowing of the skin|Yellow skin|Icterus http://purl.obolibrary.org/obo/HP_0000952 HP:0000951 biolink:PhenotypicFeature Abnormality of the skin An abnormality of the skin. SNOMEDCT_US:199879009|UMLS:C0037268|SNOMEDCT_US:95320005|MSH:D012868|UMLS:C0037274|MSH:D012871 hp.json Dermatopathy|Dermopathy|Abnormality of the skin|Skin abnormality http://purl.obolibrary.org/obo/HP_0000951 hposlim_core UBERON:0009114 biolink:AnatomicalEntity cervical thymus A mature thymus that is entirely part of the cervical region. hp.json http://purl.obolibrary.org/obo/UBERON_0009114 organ_slim UBERON:0009115 biolink:AnatomicalEntity thoracic thymus A mature thymus that is entirely part of thoracic region. hp.json http://purl.obolibrary.org/obo/UBERON_0009115 organ_slim HP:0000965 biolink:PhenotypicFeature Cutis marmorata A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. UMLS:C0263401 hp.json http://purl.obolibrary.org/obo/HP_0000965 hposlim_core HP:0000964 biolink:PhenotypicFeature Eczema Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. MSH:D004485|UMLS:C0013595|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000 hp.json Eczema http://purl.obolibrary.org/obo/HP_0000964 HP:0000967 biolink:PhenotypicFeature Petechiae Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. MSH:D011693|SNOMEDCT_US:50091001|SNOMEDCT_US:271813007|MEDDRA:10034754|UMLS:C0031256 hp.json http://purl.obolibrary.org/obo/HP_0000967 hposlim_core HP:0000966 biolink:PhenotypicFeature Hypohidrosis Abnormally diminished capacity to sweat. MSH:D007007|SNOMEDCT_US:45004005|MEDDRA:10021013|UMLS:C0020620 hp.json Sweating, decreased|Inadequate sweating|Decreased ability to sweat|Oligohidrosis|Decreased sweating http://purl.obolibrary.org/obo/HP_0000966 hposlim_core HP:0000969 biolink:PhenotypicFeature Edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. SNOMEDCT_US:423666004|MSH:D004487|SNOMEDCT_US:20741006|SNOMEDCT_US:79654002|UMLS:C0013604|SNOMEDCT_US:267038008 hp.json Dropsy|Fluid retention|Water retention|Oedema|Hydrops http://purl.obolibrary.org/obo/HP_0000969 HP:0000968 biolink:PhenotypicFeature Ectodermal dysplasia Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. MSH:D004476|UMLS:C0013575|SNOMEDCT_US:8654005|SNOMEDCT_US:254154003 hp.json http://purl.obolibrary.org/obo/HP_0000968 HP:0000961 biolink:PhenotypicFeature Cyanosis Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. SNOMEDCT_US:3415004|SNOMEDCT_US:119419001|MSH:D003490|UMLS:C0010520 hp.json Blue discoloration of the skin http://purl.obolibrary.org/obo/HP_0000961 HP:0000960 biolink:PhenotypicFeature Sacral dimple A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. SNOMEDCT_US:249729002|UMLS:C0426848|SNOMEDCT_US:311897005 hp.json Spinal dimple|Pilonidal dimple http://purl.obolibrary.org/obo/HP_0000960 hposlim_core HP:0000963 biolink:PhenotypicFeature Thin skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. SNOMEDCT_US:277797007|UMLS:C0423757 hp.json Thin skin http://purl.obolibrary.org/obo/HP_0000963 hposlim_core HP:0000962 biolink:PhenotypicFeature Hyperkeratosis Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. SNOMEDCT_US:396228006|SNOMEDCT_US:26996000|UMLS:C0870082|MEDDRA:10020649|SNOMEDCT_US:399955009 hp.json http://purl.obolibrary.org/obo/HP_0000962 hposlim_core CHEBI:15551 biolink:ChemicalSubstance prostaglandin E2 Prostaglandin F2alpha in which the hydroxy group at position 9 has been oxidised to the corresponding ketone. Prostaglandin E2 is the most common and most biologically potent of mammalian prostaglandins. PMID:14535055|Patent:GB851827|HMDB:HMDB0001220|PMID:34071686|LINCS:LSM-42919|PMID:16405508|Patent:NL6505799|PMID:9276764|DrugBank:DB00917|PMID:16787416|PMID:33715333|Drug_Central:913|PMID:14703707|FooDB:FDB022498|PMID:2403792|PMID:12746806|PMID:15661432|PMID:32898608|PMID:74611|PMID:33811074|PMID:33958485|PMID:33685091|KEGG:D00079|KEGG:C00584|PMID:6317292|Reaxys:2224724|Beilstein:2224724|PDBeChem:P2E|PMID:33559528|PMID:33271839|CAS:363-24-6|PMID:16978535|PMID:11279302|PMID:33782420|CAS:363-24-6|Patent:DE2011969|Wikipedia:Prostaglandin_E2|PMID:20671299|PMID:15542928|Patent:US3598858|PMID:34065827|PMID:14499495|PMID:7836930|PMID:24501112|PMID:12859290|LIPID_MAPS_instance:LMFA03010003|PMID:34102274|PMID:7224729 hp.json Prepidil|Prostin E2|Minprostin E2|(E,Z)-(1R,2R,3R)-7-(3-Hydroxy-2-((3S)-(3-hydroxy-1-octenyl))-5-oxocyclopentyl)-5-heptenoic acid|Propess|Cerviprime|Cerviprost|U-12,062|Glandin-E2|Dinoproston|PGE2|(5Z,13E)-(15S)-11alpha,15-Dihydroxy-9-oxoprosta-5,13-dienoate|Cervidil|PGE2|Minprositin E2|(Z)-7-((1R,2R,3R)-3-hydroxy-2-((S,E)-3-hydroxyoct-1-enyl)-5-oxocyclopentyl)hept-5-enoic acid|(15S)-prostaglandin E2|U-12062|dinoprostonum|dinoprostone|Prostin|Enzaprost E|Prostarmon E|(5Z,13E)-(15S)-11alpha,15-Dihydroxy-9-oxoprost-13-enoate|(5Z,13E,15S)-11alpha,15-dihydroxy-9-oxoprosta-5,13-dien-1-oic acid|Prostaglandin E2|U 12062|dinoprostona|Prostenone|(5Z,11alpha,13E,15S)-11,15-dihydroxy-9-oxoprosta-5,13-dien-1-oic acid http://purl.obolibrary.org/obo/CHEBI_15551 3_STAR HP:0000939 biolink:PhenotypicFeature Osteoporosis Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456 hp.json http://purl.obolibrary.org/obo/HP_0000939 GO:0098588 biolink:CellularComponent bounding membrane of organelle The lipid bilayer that forms the outer-most layer of an organelle. hp.json http://purl.obolibrary.org/obo/GO_0098588 HP:0000932 biolink:PhenotypicFeature Abnormal posterior cranial fossa morphology An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. UMLS:C3280768 hp.json Abnormality of the posterior cranial fossa|Posterior fossa anomaly|Abnormality of the posterior fossa http://purl.obolibrary.org/obo/HP_0000932 HP:0000931 biolink:PhenotypicFeature Thinning and bulging of the posterior fossa bones UMLS:C4021788|UMLS:C4280608 hp.json Thinning and bulging of occipital bone of skull|Thinning and bulging of posterior fossa bones|Thinning and bulging of posterior skull bones http://purl.obolibrary.org/obo/HP_0000931 HP:0000934 biolink:PhenotypicFeature Chondrocalcinosis Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . SNOMEDCT_US:239832006|SNOMEDCT_US:239838005|UMLS:C0553730|MSH:D002805|SNOMEDCT_US:201637001 hp.json Calcium deposits in joints http://purl.obolibrary.org/obo/HP_0000934 HP:0000933 biolink:PhenotypicFeature Posterior fossa cyst at the fourth ventricle UMLS:C4025816 hp.json http://purl.obolibrary.org/obo/HP_0000933 HP:0000935 biolink:PhenotypicFeature Thickened cortex of long bones Abnormal thickening of the cortex of long bones. UMLS:C1840418 hp.json Broad cortex of long bones|Cortical thickening of the long bones|Thickened cortices of long bones http://purl.obolibrary.org/obo/HP_0000935 HP:0000938 biolink:PhenotypicFeature Osteopenia Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. UMLS:C0747078|MSH:D001851|SNOMEDCT_US:312894000|SNOMEDCT_US:78441005|UMLS:C0029453 hp.json Generalized osteopenia|Osteopaenia|Generalised osteopenia http://purl.obolibrary.org/obo/HP_0000938 HP:0000930 biolink:PhenotypicFeature Elevated imprint of the transverse sinuses UMLS:C4025817 hp.json Thinning and bulging of posterior skull bones over the transverse sinuses|Thinning and bulging of occipital bone over the transverse sinuses|Elevated imprint of occipital bone over the transverse sinuses|Elevated imprint of posterior skull bones over the transverse sinuses http://purl.obolibrary.org/obo/HP_0000930 CHEBI:27547 biolink:ChemicalSubstance zeaxanthin hp.json http://purl.obolibrary.org/obo/CHEBI_27547 GO:0098590 biolink:CellularComponent plasma membrane region A membrane that is a (regional) part of the plasma membrane. hp.json region of plasma membrane http://purl.obolibrary.org/obo/GO_0098590 gocheck_do_not_manually_annotate HP:0000943 biolink:PhenotypicFeature Dysostosis multiplex UMLS:C0086795|SNOMEDCT_US:254069004|MSH:D008059|SNOMEDCT_US:65327002 hp.json http://purl.obolibrary.org/obo/HP_0000943 HP:0000944 biolink:PhenotypicFeature Abnormal metaphysis morphology An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. UMLS:C4025814 hp.json Abnormality of the wide portion of a long bone http://purl.obolibrary.org/obo/HP_0000944 HP:0000947 biolink:PhenotypicFeature Dumbbell-shaped long bone An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. UMLS:C2749582 hp.json Dumbbell-shaped long bone|Dumbbell widening of long bone metaphyses http://purl.obolibrary.org/obo/HP_0000947 HP:0000946 biolink:PhenotypicFeature Hypoplastic ilia Underdevelopment of the ilium. UMLS:C4280607|UMLS:C1861218 hp.json Short and small iliac bones|Small iliac bones|Small wings of the pelvic girdle http://purl.obolibrary.org/obo/HP_0000946 HP:0000941 biolink:PhenotypicFeature Short diaphyses UMLS:C4025815 hp.json Short shaft of long bone http://purl.obolibrary.org/obo/HP_0000941 HP:0000940 biolink:PhenotypicFeature Abnormal diaphysis morphology An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. UMLS:C4021787 hp.json Abnormality of shaft of long bone of the limbs|Abnormality of the diaphyses|Abnormality involving the diaphyses of the limbs|Anomaly of the limb diaphyses|Anomaly of the limb diaphyses morphology|Abnormal shape of shaft of long bone http://purl.obolibrary.org/obo/HP_0000940 CL:0000240 biolink:Cell stratified squamous epithelial cell hp.json http://purl.obolibrary.org/obo/CL_0000240 CL:0000242 biolink:Cell Merkel cell A modified epidermal cell located in the stratum basale. They are found mostly in areas where sensory perception is acute. Merkel cells are closely associated with an expanded terminal bulb of an afferent myelinated nerve fiber. FMA:70548 hp.json Merkel's cell http://purl.obolibrary.org/obo/CL_0000242 CL:0000255 biolink:Cell eukaryotic cell hp.json http://purl.obolibrary.org/obo/CL_0000255 CL:0000257 biolink:Cell Eumycetozoan cell hp.json http://purl.obolibrary.org/obo/CL_0000257 GO:1904738 biolink:BiologicalProcess vascular associated smooth muscle cell migration The orderly movement of a vascular associated smooth muscle cell from one site to another. hp.json vascular smooth muscle cell migration http://purl.obolibrary.org/obo/GO_1904738 CL:0000226 biolink:Cell single nucleate cell A cell with a single nucleus. hp.json http://purl.obolibrary.org/obo/CL_0000226 CL:0000227 biolink:Cell binucleate cell hp.json http://purl.obolibrary.org/obo/CL_0000227 CL:0000228 biolink:Cell multinucleate cell A cell with more than one nucleus. WBbt:0008074|AEO:0000203 hp.json syncitium|syncytium|syncytial cell http://purl.obolibrary.org/obo/CL_0000228 PR:Q00342 biolink:Protein receptor-type tyrosine-protein kinase FLT3 (mouse) A receptor-type tyrosine-protein kinase FLT3 that is encoded in the genome of mouse. UniProtKB:Q00342 hp.json tyrosine-protein kinase receptor flk-2 (mouse)|Flk-2|FLT-3 (mouse)|CD135 (mouse)|mFLT3|fetal liver kinase 2 (mouse)|Flt3|fms-like tyrosine kinase 3 (mouse)|Flt-3|FL cytokine receptor (mouse)|FLK-2 (mouse) http://purl.obolibrary.org/obo/PR_Q00342 CL:0000221 biolink:Cell ectodermal cell A cell of the outer of the three germ layers of the embryo. FMA:72549 hp.json ectoderm cell http://purl.obolibrary.org/obo/CL_0000221 CL:0000222 biolink:Cell mesodermal cell A cell of the middle germ layer of the embryo. FMA:72554 hp.json mesoblast|mesoderm cell http://purl.obolibrary.org/obo/CL_0000222 CL:0000223 biolink:Cell endodermal cell A cell of the inner of the three germ layers of the embryo. FMA:72555 hp.json endoderm cell http://purl.obolibrary.org/obo/CL_0000223 CL:0000225 biolink:Cell anucleate cell A cell that lacks a nucleus. FMA:68647 hp.json non-nucleated cell http://purl.obolibrary.org/obo/CL_0000225 GO:1904749 biolink:BiologicalProcess regulation of protein localization to nucleolus Any process that modulates the frequency, rate or extent of protein localization to nucleolus. hp.json regulation of protein localization in nucleolus|regulation of protein localisation to nucleolus|regulation of protein localisation in nucleolus http://purl.obolibrary.org/obo/GO_1904749 GO:1904748 biolink:BiologicalProcess regulation of apoptotic process involved in development Any process that modulates the frequency, rate or extent of apoptotic process involved in development. hp.json regulation of apoptotic cell death involved in anatomical structure development|regulation of commitment to apoptosis involved in development of an anatomical structure|regulation of apoptosis involved in development of an anatomical structure|regulation of activation of apoptosis involved in development of an anatomical structure|regulation of commitment to apoptosis involved in anatomical structure development|regulation of apoptotic programmed cell death involved in development of an anatomical structure|regulation of apoptosis involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in development of an anatomical structure|regulation of activation of apoptosis involved in anatomical structure development|regulation of apoptotic process involved in development of an anatomical structure|regulation of apoptotic program involved in development of an anatomical structure|regulation of type I programmed cell death involved in development of an anatomical structure|regulation of induction of apoptosis by p53 involved in development of an anatomical structure|regulation of induction of apoptosis involved in development of an anatomical structure|regulation of apoptosis activator activity involved in development of an anatomical structure|regulation of apoptotic programmed cell death involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in anatomical structure development|regulation of induction of apoptosis by p53 involved in anatomical structure development|regulation of apoptotic program involved in anatomical structure development|regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|regulation of apoptotic process involved in anatomical structure development|regulation of type I programmed cell death involved in anatomical structure development|regulation of apoptosis activator activity involved in anatomical structure development|regulation of induction of apoptosis involved in anatomical structure development|regulation of apoptosis signaling involved in development of an anatomical structure|regulation of apoptotic cell death involved in development of an anatomical structure|regulation of signaling (initiator) caspase activity involved in anatomical structure development|regulation of apoptosis signaling involved in anatomical structure development http://purl.obolibrary.org/obo/GO_1904748 GO:1904747 biolink:BiologicalProcess positive regulation of apoptotic process involved in development Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development. hp.json up regulation of apoptotic process involved in development of an anatomical structure|activation of type I programmed cell death involved in development of an anatomical structure|positive regulation of induction of apoptosis involved in anatomical structure development|upregulation of induction of apoptosis involved in development of an anatomical structure|upregulation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of apoptosis activator activity involved in anatomical structure development|upregulation of apoptotic process involved in development|activation of apoptosis signaling involved in anatomical structure development|up regulation of signaling (initiator) caspase activity involved in anatomical structure development|positive regulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptotic program involved in anatomical structure development|activation of induction of apoptosis involved in development of an anatomical structure|up-regulation of commitment to apoptosis involved in anatomical structure development|activation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of induction of apoptosis by p53 involved in anatomical structure development|up-regulation of apoptosis involved in anatomical structure development|up regulation of apoptotic cell death involved in development of an anatomical structure|positive regulation of apoptotic process involved in anatomical structure development|positive regulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|upregulation of apoptosis signaling involved in anatomical structure development|activation of apoptotic cell death involved in development of an anatomical structure|up-regulation of apoptotic programmed cell death involved in development of an anatomical structure|up-regulation of activation of apoptosis involved in anatomical structure development|up-regulation of apoptotic cell death involved in anatomical structure development|up-regulation of apoptotic program involved in development of an anatomical structure|activation of apoptotic programmed cell death involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in anatomical structure development|upregulation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of apoptotic program involved in anatomical structure development|positive regulation of apoptotic cell death involved in development of an anatomical structure|up regulation of apoptotic programmed cell death involved in anatomical structure development|activation of apoptosis involved in development of an anatomical structure|activation of apoptotic process involved in development of an anatomical structure|up-regulation of apoptotic process involved in development of an anatomical structure|up regulation of induction of apoptosis by p53 involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|activation of commitment to apoptosis involved in development of an anatomical structure|upregulation of type I programmed cell death involved in anatomical structure development|upregulation of commitment to apoptosis involved in development of an anatomical structure|activation of type I programmed cell death involved in anatomical structure development|upregulation of apoptosis activator activity involved in anatomical structure development|up regulation of apoptotic process involved in anatomical structure development|activation of activation of apoptosis involved in development of an anatomical structure|activation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of induction of apoptosis involved in anatomical structure development|upregulation of apoptosis involved in development of an anatomical structure|up regulation of apoptosis signaling involved in development of an anatomical structure|upregulation of activation of apoptosis involved in development of an anatomical structure|activation of induction of apoptosis involved in anatomical structure development|up regulation of apoptotic cell death involved in anatomical structure development|activation of apoptosis activator activity involved in anatomical structure development|up-regulation of apoptotic program involved in anatomical structure development|up-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in development of an anatomical structure|activation of apoptotic cell death involved in anatomical structure development|up-regulation of induction of apoptosis by p53 involved in anatomical structure development|up-regulation of apoptotic programmed cell death involved in anatomical structure development|activation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptosis signaling involved in anatomical structure development|activation of apoptotic process involved in anatomical structure development|up-regulation of apoptosis signaling involved in development of an anatomical structure|positive regulation of apoptotic cell death involved in anatomical structure development|activation of commitment to apoptosis involved in anatomical structure development|up-regulation of apoptosis activator activity involved in development of an anatomical structure|up-regulation of apoptotic process involved in development|up-regulation of apoptotic process involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in anatomical structure development|upregulation of apoptotic cell death involved in development of an anatomical structure|activation of apoptosis involved in anatomical structure development|up-regulation of induction of apoptosis involved in development of an anatomical structure|positive regulation of commitment to apoptosis involved in development of an anatomical structure|activation of apoptotic program involved in development of an anatomical structure|upregulation of commitment to apoptosis involved in anatomical structure development|activation of induction of apoptosis by p53 involved in development of an anatomical structure|activation of signaling (initiator) caspase activity involved in anatomical structure development|up regulation of apoptosis signaling involved in anatomical structure development|activation of activation of apoptosis involved in anatomical structure development|positive regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptosis involved in anatomical structure development|up regulation of type I programmed cell death involved in development of an anatomical structure|up regulation of programmed cell death by apoptosis involved in development of an anatomical structure|upregulation of apoptotic program involved in development of an anatomical structure|upregulation of apoptotic programmed cell death involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in development of an anatomical structure|upregulation of induction of apoptosis by p53 involved in development of an anatomical structure|upregulation of activation of apoptosis involved in anatomical structure development|up regulation of commitment to apoptosis involved in development of an anatomical structure|up regulation of apoptotic process involved in development|upregulation of apoptotic process involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in anatomical structure development|up-regulation of type I programmed cell death involved in anatomical structure development|activation of programmed cell death by apoptosis involved in development of an anatomical structure|up regulation of apoptosis involved in development of an anatomical structure|up regulation of apoptosis activator activity involved in development of an anatomical structure|up regulation of induction of apoptosis involved in development of an anatomical structure|up-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure|positive regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of induction of apoptosis involved in anatomical structure development|up regulation of activation of apoptosis involved in development of an anatomical structure|upregulation of apoptotic cell death involved in anatomical structure development|up-regulation of apoptosis signaling involved in anatomical structure development|activation of apoptotic process involved in development|up-regulation of apoptosis activator activity involved in anatomical structure development|positive regulation of apoptosis involved in anatomical structure development|positive regulation of commitment to apoptosis involved in anatomical structure development|positive regulation of apoptosis activator activity involved in development of an anatomical structure|activation of apoptotic program involved in anatomical structure development|positive regulation of induction of apoptosis involved in development of an anatomical structure|activation of induction of apoptosis by p53 involved in anatomical structure development|up regulation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of induction of apoptosis by p53 involved in anatomical structure development|up regulation of type I programmed cell death involved in anatomical structure development|positive regulation of apoptotic program involved in development of an anatomical structure|upregulation of apoptotic program involved in anatomical structure development|upregulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of activation of apoptosis involved in anatomical structure development|activation of apoptosis signaling involved in development of an anatomical structure|positive regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of commitment to apoptosis involved in development of an anatomical structure|positive regulation of apoptotic programmed cell death involved in development of an anatomical structure|up-regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptotic process involved in anatomical structure development|upregulation of apoptosis signaling involved in development of an anatomical structure|positive regulation of apoptotic process involved in development of an anatomical structure|up regulation of commitment to apoptosis involved in anatomical structure development|up-regulation of activation of apoptosis involved in development of an anatomical structure|activation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of induction of apoptosis involved in anatomical structure development|up-regulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of apoptotic cell death involved in development of an anatomical structure|up regulation of apoptosis involved in anatomical structure development|up regulation of apoptosis activator activity involved in anatomical structure development|upregulation of type I programmed cell death involved in development of an anatomical structure|up regulation of apoptotic program involved in development of an anatomical structure|up regulation of activation of apoptosis involved in anatomical structure development|positive regulation of type I programmed cell death involved in anatomical structure development|up regulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of apoptotic programmed cell death involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in development of an anatomical structure http://purl.obolibrary.org/obo/GO_1904747 CL:0000237 biolink:Cell keratinizing barrier epithelial cell hp.json http://purl.obolibrary.org/obo/CL_0000237 GO:1904746 biolink:BiologicalProcess negative regulation of apoptotic process involved in development Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development. hp.json negative regulation of induction of apoptosis involved in development of an anatomical structure|inhibition of induction of apoptosis involved in anatomical structure development|down-regulation of induction of apoptosis involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in development of an anatomical structure|inhibition of apoptosis activator activity involved in anatomical structure development|down-regulation of apoptosis activator activity involved in development of an anatomical structure|inhibition of apoptotic program involved in anatomical structure development|inhibition of apoptotic cell death involved in anatomical structure development|inhibition of induction of apoptosis by p53 involved in anatomical structure development|downregulation of apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of apoptosis involved in development of an anatomical structure|downregulation of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in anatomical structure development|downregulation of apoptotic cell death involved in anatomical structure development|negative regulation of programmed cell death by apoptosis involved in anatomical structure development|down regulation of activation of apoptosis involved in development of an anatomical structure|down regulation of apoptotic process involved in development|downregulation of induction of apoptosis by p53 involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in anatomical structure development|downregulation of apoptotic process involved in development of an anatomical structure|inhibition of apoptosis signaling involved in development of an anatomical structure|downregulation of activation of apoptosis involved in anatomical structure development|down regulation of type I programmed cell death involved in development of an anatomical structure|down-regulation of apoptosis signaling involved in anatomical structure development|negative regulation of apoptosis signaling involved in anatomical structure development|downregulation of apoptotic program involved in development of an anatomical structure|inhibition of signaling (initiator) caspase activity involved in anatomical structure development|negative regulation of type I programmed cell death involved in anatomical structure development|down regulation of induction of apoptosis involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|negative regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of type I programmed cell death involved in anatomical structure development|down-regulation of apoptosis activator activity involved in anatomical structure development|negative regulation of commitment to apoptosis involved in development of an anatomical structure|negative regulation of induction of apoptosis involved in anatomical structure development|down-regulation of apoptosis involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in anatomical structure development|negative regulation of apoptosis involved in development of an anatomical structure|down-regulation of commitment to apoptosis involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in anatomical structure development|downregulation of apoptotic programmed cell death involved in anatomical structure development|down regulation of commitment to apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in development of an anatomical structure|negative regulation of activation of apoptosis involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of apoptosis involved in anatomical structure development|downregulation of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of activation of apoptosis involved in anatomical structure development|down regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of apoptotic cell death involved in development of an anatomical structure|downregulation of apoptotic process involved in anatomical structure development|downregulation of apoptotic program involved in anatomical structure development|downregulation of type I programmed cell death involved in development of an anatomical structure|down regulation of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of apoptosis signaling involved in anatomical structure development|downregulation of apoptotic process involved in development|down regulation of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic cell death involved in development of an anatomical structure|inhibition of apoptotic process involved in development|down regulation of type I programmed cell death involved in anatomical structure development|down regulation of apoptotic program involved in development of an anatomical structure|downregulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of apoptosis activator activity involved in anatomical structure development|downregulation of apoptosis signaling involved in development of an anatomical structure|down-regulation of signaling (initiator) caspase activity involved in anatomical structure development|downregulation of apoptosis activator activity involved in development of an anatomical structure|downregulation of induction of apoptosis involved in development of an anatomical structure|down regulation of induction of apoptosis involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in anatomical structure development|inhibition of apoptotic programmed cell death involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in development of an anatomical structure|inhibition of apoptosis involved in development of an anatomical structure|inhibition of commitment to apoptosis involved in development of an anatomical structure|negative regulation of commitment to apoptosis involved in anatomical structure development|negative regulation of apoptotic programmed cell death involved in development of an anatomical structure|inhibition of apoptotic process involved in development of an anatomical structure|down-regulation of apoptosis involved in anatomical structure development|negative regulation of apoptosis involved in anatomical structure development|down-regulation of commitment to apoptosis involved in anatomical structure development|downregulation of programmed cell death by apoptosis involved in anatomical structure development|down regulation of apoptotic cell death involved in development of an anatomical structure|negative regulation of induction of apoptosis by p53 involved in development of an anatomical structure|down-regulation of apoptotic program involved in development of an anatomical structure|inhibition of programmed cell death by apoptosis involved in anatomical structure development|down-regulation of apoptotic process involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in anatomical structure development|inhibition of activation of apoptosis involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in anatomical structure development|down-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|negative regulation of apoptotic program involved in development of an anatomical structure|negative regulation of apoptotic process involved in development of an anatomical structure|negative regulation of activation of apoptosis involved in anatomical structure development|downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of signaling (initiator) caspase activity involved in anatomical structure development|negative regulation of apoptotic cell death involved in anatomical structure development|down regulation of apoptotic program involved in anatomical structure development|down regulation of apoptotic process involved in anatomical structure development|downregulation of type I programmed cell death involved in anatomical structure development|down-regulation of apoptotic cell death involved in anatomical structure development|down regulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of apoptosis signaling involved in development of an anatomical structure|inhibition of type I programmed cell death involved in development of an anatomical structure|downregulation of induction of apoptosis involved in anatomical structure development|downregulation of apoptosis activator activity involved in anatomical structure development|downregulation of apoptosis signaling involved in anatomical structure development|inhibition of apoptotic programmed cell death involved in anatomical structure development|negative regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of commitment to apoptosis involved in anatomical structure development|inhibition of apoptotic process involved in anatomical structure development|inhibition of apoptosis activator activity involved in development of an anatomical structure|inhibition of induction of apoptosis involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of apoptosis involved in anatomical structure development|down-regulation of apoptotic process involved in anatomical structure development|down-regulation of induction of apoptosis by p53 involved in anatomical structure development|inhibition of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of activation of apoptosis involved in anatomical structure development|down regulation of apoptotic cell death involved in anatomical structure development|downregulation of apoptotic cell death involved in development of an anatomical structure|negative regulation of apoptotic program involved in anatomical structure development|downregulation of apoptosis involved in development of an anatomical structure|down-regulation of apoptotic program involved in anatomical structure development|inhibition of apoptotic program involved in development of an anatomical structure|negative regulation of apoptotic process involved in anatomical structure development|negative regulation of induction of apoptosis by p53 involved in anatomical structure development|inhibition of apoptotic cell death involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of activation of apoptosis involved in development of an anatomical structure|negative regulation of programmed cell death by apoptosis involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|negative regulation of apoptosis signaling involved in development of an anatomical structure|downregulation of signaling (initiator) caspase activity involved in anatomical structure development|down-regulation of apoptosis signaling involved in development of an anatomical structure|down-regulation of type I programmed cell death involved in development of an anatomical structure|inhibition of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of apoptotic process involved in development|negative regulation of type I programmed cell death involved in development of an anatomical structure|inhibition of type I programmed cell death involved in anatomical structure development|down regulation of apoptosis signaling involved in anatomical structure development http://purl.obolibrary.org/obo/GO_1904746 GO:1904750 biolink:BiologicalProcess negative regulation of protein localization to nucleolus Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleolus. hp.json down-regulation of protein localization to nucleolus|down regulation of protein localisation in nucleolus|down regulation of protein localization to nucleolus|inhibition of protein localisation in nucleolus|downregulation of protein localisation in nucleolus|down-regulation of protein localization in nucleolus|inhibition of protein localization to nucleolus|negative regulation of protein localization in nucleolus|downregulation of protein localization to nucleolus|down-regulation of protein localisation to nucleolus|negative regulation of protein localisation to nucleolus|down regulation of protein localization in nucleolus|down regulation of protein localisation to nucleolus|inhibition of protein localization in nucleolus|downregulation of protein localization in nucleolus|down-regulation of protein localisation in nucleolus|inhibition of protein localisation to nucleolus|negative regulation of protein localisation in nucleolus|downregulation of protein localisation to nucleolus http://purl.obolibrary.org/obo/GO_1904750 CL:0000232 biolink:Cell erythrocyte A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. FMA:81100|CALOHA:TS-0290|BTO:0000424 hp.json red blood cell|RBC http://purl.obolibrary.org/obo/CL_0000232 CL:0000233 biolink:Cell platelet A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. CALOHA:TS-0803|FMA:62851|BTO:0000132 hp.json enucleate thrombocyte|anucleate thrombocyte|blood platelet http://purl.obolibrary.org/obo/CL_0000233 CL:0000234 biolink:Cell phagocyte Any cell capable of ingesting particulate matter via phagocytosis. FMA:83806|BTO:0001044 hp.json http://purl.obolibrary.org/obo/CL_0000234 CL:0000235 biolink:Cell macrophage A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. FMA:83585|CALOHA:TS-0587|FMA:63261|BTO:0000801 hp.json histiocyte http://purl.obolibrary.org/obo/CL_0000235 CL:0000236 biolink:Cell B cell A lymphocyte of B lineage that is capable of B cell mediated immunity. BTO:0000776|CALOHA:TS-0068|FMA:62869|VHOG:0001480 hp.json B-lymphocyte|B-cell|B lymphocyte http://purl.obolibrary.org/obo/CL_0000236 HP:0034294 biolink:PhenotypicFeature Ductal bile plugs Bile thrombi that form an obstruction (plug) in a dilated bile duct. hp.json http://purl.obolibrary.org/obo/HP_0034294 HP:0034293 biolink:PhenotypicFeature Temporal lobe calcification The presence of calcium deposition within the temporal lobe of the brain. hp.json http://purl.obolibrary.org/obo/HP_0034293 GO:0001578 biolink:BiologicalProcess microtubule bundle formation A process that results in a parallel arrangement of microtubules. hp.json microtubule bundling http://purl.obolibrary.org/obo/GO_0001578 HP:0034296 biolink:PhenotypicFeature Elevated urine 3,5,6-trichloro-2-pyridinol level Detection of 3,5,6-trichloro-2-pyridinol in the urine. hp.json http://purl.obolibrary.org/obo/HP_0034296 HP:0034295 biolink:PhenotypicFeature Reduced cerebral white matter volume An abnormally low volume of the white matter of the brain. hp.json White matter loss http://purl.obolibrary.org/obo/HP_0034295 HP:0034290 biolink:PhenotypicFeature Elevated circulating tiglylglycine concentration An increased concentration of tiglylglycine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034290 GO:0001573 biolink:BiologicalProcess ganglioside metabolic process The chemical reactions and pathways involving ceramide oligosaccharides carrying in addition to other sugar residues, one or more sialic acid residues. hp.json ganglioside metabolism http://purl.obolibrary.org/obo/GO_0001573 HP:0034292 biolink:PhenotypicFeature Reduced circulating creatine concentration An reduction below the normal range of creatine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034292 HP:0034291 biolink:PhenotypicFeature Elevated circulating creatine concentration An elevation above the normal range of creatine in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034291 CL:0000206 biolink:Cell chemoreceptor cell A cell specialized to detect chemical substances and relay that information centrally in the nervous system. Chemoreceptors may monitor external stimuli, as in taste and olfaction, or internal stimuli, such as the concentrations of oxygen and carbon dioxide in the blood. hp.json http://purl.obolibrary.org/obo/CL_0000206 GO:0001570 biolink:BiologicalProcess vasculogenesis The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. Wikipedia:Vasculogenesis hp.json vascular morphogenesis http://purl.obolibrary.org/obo/GO_0001570 CL:0000207 biolink:Cell olfactory receptor cell BTO:0004185|FMA:67860 hp.json olfactory sensory neuron|Schultze's cell|odorant receptor cell|olfactory receptor neuron http://purl.obolibrary.org/obo/CL_0000207 GO:1904754 biolink:BiologicalProcess positive regulation of vascular associated smooth muscle cell migration Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell migration. hp.json upregulation of vascular associated smooth muscle cell migration|up-regulation of vascular smooth muscle cell migration|up regulation of vascular smooth muscle cell migration|up regulation of vascular associated smooth muscle cell migration|activation of vascular smooth muscle cell migration|positive regulation of vascular smooth muscle cell migration|up-regulation of vascular associated smooth muscle cell migration|activation of vascular associated smooth muscle cell migration|upregulation of vascular smooth muscle cell migration http://purl.obolibrary.org/obo/GO_1904754 HP:0034298 biolink:PhenotypicFeature Elevated circulating hexacosanoic acid concentration Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation. hp.json Elevated circulating cerotic acid concentration http://purl.obolibrary.org/obo/HP_0034298 GO:1904753 biolink:BiologicalProcess negative regulation of vascular associated smooth muscle cell migration Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell migration. hp.json inhibition of vascular associated smooth muscle cell migration|down regulation of vascular smooth muscle cell migration|down-regulation of vascular associated smooth muscle cell migration|inhibition of vascular smooth muscle cell migration|downregulation of vascular smooth muscle cell migration|downregulation of vascular associated smooth muscle cell migration|negative regulation of vascular smooth muscle cell migration|down-regulation of vascular smooth muscle cell migration|down regulation of vascular associated smooth muscle cell migration http://purl.obolibrary.org/obo/GO_1904753 CL:0000209 biolink:Cell taste receptor cell A cell type found in the spherical or ovoid clusters of receptor cells found mainly in the epithelium of the tongue and constituting the end organs of the sense of taste. FMA:67910 hp.json taste bud cell http://purl.obolibrary.org/obo/CL_0000209 HP:0034297 biolink:PhenotypicFeature Elevated circulating tetracosanoic acid concentration Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034297 GO:1904752 biolink:BiologicalProcess regulation of vascular associated smooth muscle cell migration Any process that modulates the frequency, rate or extent of vascular associated smooth muscle cell migration. hp.json regulation of vascular smooth muscle cell migration http://purl.obolibrary.org/obo/GO_1904752 GO:1904751 biolink:BiologicalProcess positive regulation of protein localization to nucleolus Any process that activates or increases the frequency, rate or extent of protein localization to nucleolus. hp.json up regulation of protein localization in nucleolus|upregulation of protein localization to nucleolus|up regulation of protein localisation to nucleolus|positive regulation of protein localization in nucleolus|activation of protein localization in nucleolus|positive regulation of protein localisation to nucleolus|activation of protein localisation to nucleolus|up-regulation of protein localisation in nucleolus|upregulation of protein localization in nucleolus|up regulation of protein localisation in nucleolus|upregulation of protein localisation to nucleolus|up-regulation of protein localization to nucleolus|activation of protein localisation in nucleolus|positive regulation of protein localisation in nucleolus|up regulation of protein localization to nucleolus|activation of protein localization to nucleolus|upregulation of protein localisation in nucleolus|up-regulation of protein localization in nucleolus|up-regulation of protein localisation to nucleolus http://purl.obolibrary.org/obo/GO_1904751 HP:0034299 biolink:PhenotypicFeature Sertoli cell-only phenotype A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis. hp.json http://purl.obolibrary.org/obo/HP_0034299 GO:0098528 biolink:BiologicalProcess skeletal muscle fiber differentiation The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle fiber cell. Skeletal muscle fiber differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step). Then individual skeletal muscle fibers fuse to form bigger myotubes and start to contract. hp.json http://purl.obolibrary.org/obo/GO_0098528 GO:0098523 biolink:CellularComponent neuromuscular junction of myotube A neuromuscular junction in which the target muscle cell is a myotube. hp.json http://purl.obolibrary.org/obo/GO_0098523 GO:1902106 biolink:BiologicalProcess negative regulation of leukocyte differentiation Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte differentiation. hp.json inhibition of leukocyte differentiation|downregulation of leukocyte differentiation|down-regulation of immune cell differentiation|negative regulation of immune cell differentiation|negative regulation of leucocyte differentiation|down-regulation of leucocyte differentiation|down regulation of leucocyte differentiation|down regulation of immune cell differentiation|inhibition of leucocyte differentiation|downregulation of leucocyte differentiation|downregulation of immune cell differentiation|inhibition of immune cell differentiation|down-regulation of leukocyte differentiation|down regulation of leukocyte differentiation http://purl.obolibrary.org/obo/GO_1902106 CL:0000215 biolink:Cell barrier cell A cell whose primary function is to prevent the transport of stuff across compartments. hp.json http://purl.obolibrary.org/obo/CL_0000215 GO:1902107 biolink:BiologicalProcess positive regulation of leukocyte differentiation Any process that activates or increases the frequency, rate or extent of leukocyte differentiation. hp.json activation of leucocyte differentiation|activation of immune cell differentiation|positive regulation of leucocyte differentiation|positive regulation of immune cell differentiation|up-regulation of leukocyte differentiation|upregulation of leucocyte differentiation|upregulation of immune cell differentiation|up regulation of leukocyte differentiation|activation of leukocyte differentiation|up-regulation of immune cell differentiation|up-regulation of leucocyte differentiation|upregulation of leukocyte differentiation|up regulation of immune cell differentiation|up regulation of leucocyte differentiation http://purl.obolibrary.org/obo/GO_1902107 CL:0000216 biolink:Cell Sertoli cell A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier. BTO:0001238|CALOHA:TS-0922|FMA:72298|VHOG:0001348 hp.json http://purl.obolibrary.org/obo/CL_0000216 CL:0000217 biolink:Cell insulating cell hp.json http://purl.obolibrary.org/obo/CL_0000217 GO:1902105 biolink:BiologicalProcess regulation of leukocyte differentiation Any process that modulates the frequency, rate or extent of leukocyte differentiation. hp.json regulation of immune cell differentiation|regulation of leucocyte differentiation http://purl.obolibrary.org/obo/GO_1902105 CL:0000218 biolink:Cell myelinating Schwann cell A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons. CALOHA:TS-0898|FMA:62121 hp.json peripheral neuroglial cell|neurilemmal cell|Schwann cell http://purl.obolibrary.org/obo/CL_0000218 CL:0000219 biolink:Cell motile cell A cell that moves by its own activities. hp.json http://purl.obolibrary.org/obo/CL_0000219 PR:Q63961 biolink:Protein endoglin (mouse) An endoglin that is encoded in the genome of mouse. UniProtKB:Q63961 hp.json Edg|cell surface MJ7/18 antigen (mouse)|mENG|CD105 (mouse)|Eng http://purl.obolibrary.org/obo/PR_Q63961 GO:1904770 biolink:BiologicalProcess intramembranous bone morphogenesis The developmental process by which an intramembranous bone is generated and organized. hp.json intramembranous bones morphogenesis|membrane bone morphogenesis http://purl.obolibrary.org/obo/GO_1904770 CL:0000210 biolink:Cell photoreceptor cell A cell specialized to detect and transduce light. FBbt:00004211|CALOHA:TS-0868|FMA:86740|BTO:0001060 hp.json http://purl.obolibrary.org/obo/CL_0000210 CL:0000211 biolink:Cell electrically active cell A cell whose function is determined by the generation or the reception of an electric signal. hp.json http://purl.obolibrary.org/obo/CL_0000211 CL:0000213 biolink:Cell lining cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. hp.json boundary cell http://purl.obolibrary.org/obo/CL_0000213 CL:0000214 biolink:Cell synovial cell A cell located in the synovial joint. CALOHA:TS-0995 hp.json synoviocyte http://purl.obolibrary.org/obo/CL_0000214 GO:0001555 biolink:BiologicalProcess oocyte growth The developmental growth process in which an oocyte irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present. hp.json http://purl.obolibrary.org/obo/GO_0001555 GO:0001556 biolink:BiologicalProcess oocyte maturation A developmental process, independent of morphogenetic (shape) change, that is required for an oocyte to attain its fully functional state. Oocyte maturation commences after reinitiation of meiosis commonly starting with germinal vesicle breakdown, and continues up to the second meiotic arrest prior to fertilization. Wikipedia:Oocyte_maturation hp.json http://purl.obolibrary.org/obo/GO_0001556 GO:0001553 biolink:BiologicalProcess luteinization The set of processes resulting in differentiation of theca and granulosa cells into luteal cells and in the formation of a corpus luteum after ovulation. Wikipedia:Luteal_phase|Wikipedia:Luteinization hp.json luteal phase http://purl.obolibrary.org/obo/GO_0001553 GO:1902117 biolink:BiologicalProcess positive regulation of organelle assembly Any process that activates or increases the frequency, rate or extent of organelle assembly. hp.json upregulation of organelle assembly|up regulation of organelle assembly|activation of organelle assembly|up-regulation of organelle assembly http://purl.obolibrary.org/obo/GO_1902117 GO:1904778 biolink:BiologicalProcess positive regulation of protein localization to cell cortex Any process that activates or increases the frequency, rate or extent of protein localization to cell cortex. hp.json upregulation of protein localization to cell cortex|up regulation of protein localisation to cell cortex|activation of protein localisation to cell cortex|positive regulation of protein localisation to cell cortex|up-regulation of protein localization to cell cortex|upregulation of protein localisation to cell cortex|up regulation of protein localization to cell cortex|activation of protein localization to cell cortex|up-regulation of protein localisation to cell cortex http://purl.obolibrary.org/obo/GO_1904778 GO:1902115 biolink:BiologicalProcess regulation of organelle assembly Any process that modulates the frequency, rate or extent of organelle assembly. hp.json http://purl.obolibrary.org/obo/GO_1902115 GO:1904777 biolink:BiologicalProcess negative regulation of protein localization to cell cortex Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cell cortex. hp.json down-regulation of protein localization to cell cortex|down regulation of protein localization to cell cortex|inhibition of protein localization to cell cortex|down-regulation of protein localisation to cell cortex|downregulation of protein localization to cell cortex|negative regulation of protein localisation to cell cortex|down regulation of protein localisation to cell cortex|downregulation of protein localisation to cell cortex|inhibition of protein localisation to cell cortex http://purl.obolibrary.org/obo/GO_1904777 GO:1902116 biolink:BiologicalProcess negative regulation of organelle assembly Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly. hp.json down regulation of organelle assembly|inhibition of organelle assembly|down-regulation of organelle assembly|downregulation of organelle assembly http://purl.obolibrary.org/obo/GO_1902116 GO:1904776 biolink:BiologicalProcess regulation of protein localization to cell cortex Any process that modulates the frequency, rate or extent of protein localization to cell cortex. hp.json regulation of protein localisation to cell cortex http://purl.obolibrary.org/obo/GO_1904776 GO:1902113 biolink:BiologicalProcess nucleotide phosphorylation involved in DNA repair Any nucleotide phosphorylation that is involved in DNA repair. hp.json http://purl.obolibrary.org/obo/GO_1902113 PR:Q63994 biolink:Protein myeloid cell surface antigen CD33 (mouse) A CD33 molecule that is encoded in the genome of mouse. UniProtKB:Q63994 hp.json Cd33|mCD33|sialic acid-binding Ig-like lectin 3 (mouse)|CD33 (mouse)|Siglec3|siglec-3 (mouse) http://purl.obolibrary.org/obo/PR_Q63994 GO:0001558 biolink:BiologicalProcess regulation of cell growth Any process that modulates the frequency, rate, extent or direction of cell growth. hp.json http://purl.obolibrary.org/obo/GO_0001558 GO:0001568 biolink:BiologicalProcess blood vessel development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. hp.json http://purl.obolibrary.org/obo/GO_0001568 GO:1904794 biolink:BiologicalProcess negative regulation of euchromatin binding Any process that stops, prevents or reduces the frequency, rate or extent of euchromatin binding. hp.json down-regulation of euchromatin binding|down regulation of euchromatin binding|inhibition of euchromatin binding|downregulation of euchromatin binding http://purl.obolibrary.org/obo/GO_1904794 GO:1904793 biolink:BiologicalProcess regulation of euchromatin binding Any process that modulates the frequency, rate or extent of euchromatin binding. hp.json http://purl.obolibrary.org/obo/GO_1904793 GO:0001569 biolink:BiologicalProcess branching involved in blood vessel morphogenesis The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system. hp.json patterning of blood vessels http://purl.obolibrary.org/obo/GO_0001569 HP:4000049 biolink:PhenotypicFeature Segmental fracture A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone. hp.json http://purl.obolibrary.org/obo/HP_4000049 HP:0009294 biolink:PhenotypicFeature Absent middle phalanx of 4th finger Absence of the middle phalanx of the ring (4th) finger. UMLS:C4021498 hp.json Absent middle bone of 4th finger|Aplasia of the middle phalanx of the 4th finger http://purl.obolibrary.org/obo/HP_0009294 HP:0034250 biolink:PhenotypicFeature Fetal nuchal edema Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis. hp.json http://purl.obolibrary.org/obo/HP_0034250 HP:0009293 biolink:PhenotypicFeature Broad middle phalanx of the 4th finger Increased width of the middle phalanx of the 4th finger. UMLS:C4024463 hp.json Broad middle bone of the 4th finger http://purl.obolibrary.org/obo/HP_0009293 HP:0010282 biolink:PhenotypicFeature Thin lower lip vermilion Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). UMLS:C2053440 hp.json Thin lower lip|Thin red part of the lower lip|Decreased height of lower lip vermilion|Decreased volume of lower lip|Thin vermilion border of lower lip|Decreased volume of lower lip vermilion http://purl.obolibrary.org/obo/HP_0010282 HP:0010281 biolink:PhenotypicFeature Cleft lower lip A gap in the lower lip. UMLS:C1856026 hp.json Cleft lower lip|Lower labial cleft|Cleft of the lower lip http://purl.obolibrary.org/obo/HP_0010281 hposlim_core HP:4000047 biolink:PhenotypicFeature Compression fracture A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance. hp.json Wedge fracture http://purl.obolibrary.org/obo/HP_4000047 HP:0009296 biolink:PhenotypicFeature Bullet-shaped middle phalanx of the 4th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected. UMLS:C4024462 hp.json Bullet-shaped middle bone of the 4th finger http://purl.obolibrary.org/obo/HP_0009296 HP:0034252 biolink:PhenotypicFeature Absent corneal reflex Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles. hp.json http://purl.obolibrary.org/obo/HP_0034252 HP:4000048 biolink:PhenotypicFeature Comminuted fracture A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site. hp.json http://purl.obolibrary.org/obo/HP_4000048 HP:0010280 biolink:PhenotypicFeature Stomatitis Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. MSH:D013280|UMLS:C0038362|UMLS:C0149704|SNOMEDCT_US:20607006|SNOMEDCT_US:61170000 hp.json Gingivostomatitis|Inflammation of the mouth http://purl.obolibrary.org/obo/HP_0010280 hposlim_core HP:0034251 biolink:PhenotypicFeature Abnormal corneal reflex An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea. hp.json http://purl.obolibrary.org/obo/HP_0034251 HP:0009295 biolink:PhenotypicFeature Short middle phalanx of the 4th finger Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. UMLS:C4021497 hp.json Hypoplastic/small middle phalanx of ring finger|Brachymesophalangy IV (finger)|Short middle phalanx of ring finger|Hypoplastic/small middle phalanx of the 4th finger|Short middle bone of 4th finger http://purl.obolibrary.org/obo/HP_0009295 HP:0009290 biolink:PhenotypicFeature Short distal phalanx of the 4th finger Hypoplastic/small distal phalanx of the fourth finger. UMLS:C4021499 hp.json Short distal phalanx of the fourth finger|Hypoplastic/small distal phalanx of the 4th finger|Short outermost bone of ring finger http://purl.obolibrary.org/obo/HP_0009290 HP:0009292 biolink:PhenotypicFeature Broad distal phalanx of the 4th finger Increased width of the distal phalanx of the 4th finger. UMLS:C4024464 hp.json Wide outermost bone of ring finger|Broad outermost bone of ring finger http://purl.obolibrary.org/obo/HP_0009292 HP:0009291 biolink:PhenotypicFeature Aplasia of the distal phalanx of the 4th finger Absence of the distal phalanx of the ring (4th) finger. UMLS:C4024465 hp.json Absent outermost bone of ring finger http://purl.obolibrary.org/obo/HP_0009291 HP:0034258 biolink:PhenotypicFeature Aplasia/Hypoplasia of the midbrain Absence or underdevelopment of the midbrain (mesencephalon). hp.json Aplasia/Hypoplasia of the mesencephalon http://purl.obolibrary.org/obo/HP_0034258 HP:0034257 biolink:PhenotypicFeature C4 nephritic factor positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement. hp.json http://purl.obolibrary.org/obo/HP_0034257 HP:0010289 biolink:PhenotypicFeature Cleft of alveolar ridge of maxilla A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. UMLS:C2919907|SNOMEDCT_US:445306000|UMLS:C4280386|UMLS:C1398533 hp.json Cleft of alveolar process|Notch of alveolar process|Notch of gum ridge|Cleft of gum ridge|Notch of alveolar ridge|Alveolar ridge cleft http://purl.obolibrary.org/obo/HP_0010289 hposlim_core HP:0034259 biolink:PhenotypicFeature Hypoplasia of the midbrain A developmental defect characterized by underdevelopment of the mesencephalon. hp.json Hypoplasia of the mesencephalon|Hypoplastic mesencephalon http://purl.obolibrary.org/obo/HP_0034259 HP:0010288 biolink:PhenotypicFeature Abnormality of the sublingual glands Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands. UMLS:C4023919 hp.json http://purl.obolibrary.org/obo/HP_0010288 HP:0034254 biolink:PhenotypicFeature Face of the giant panda sign The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda. hp.json Midbrain panda sign http://purl.obolibrary.org/obo/HP_0034254 HP:0010287 biolink:PhenotypicFeature Abnormality of the submandibular glands Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles. UMLS:C4023920 hp.json Abnormality of the submaxillary glands http://purl.obolibrary.org/obo/HP_0010287 PR:P53566 biolink:Protein CCAAT/enhancer-binding protein alpha (mouse) A CCAAT/enhancer-binding protein alpha that is encoded in the genome of mouse. UniProtKB:P53566 hp.json mCEBPA|Cebpa|Cebp|C/EBP alpha (mouse) http://purl.obolibrary.org/obo/PR_P53566 HP:0010286 biolink:PhenotypicFeature Abnormal salivary gland morphology Any abnormality of the salivary glands, the exocrine glands that produce saliva. SNOMEDCT_US:10890000|UMLS:C0149772|MSH:D012466|UMLS:C0036093 hp.json Salivary gland disease|Abnormality of the salivary glands http://purl.obolibrary.org/obo/HP_0010286 hposlim_core HP:0034253 biolink:PhenotypicFeature Eosinophil nuclear hypersegmentation An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes. hp.json http://purl.obolibrary.org/obo/HP_0034253 HP:0034256 biolink:PhenotypicFeature Absent dermoepidermal hemidesmosomes Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. hp.json http://purl.obolibrary.org/obo/HP_0034256 HP:0010285 biolink:PhenotypicFeature Oral synechia Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. UMLS:C4023921 hp.json Synechiae of the mouth|Oral fibrous bands http://purl.obolibrary.org/obo/HP_0010285 hposlim_core HP:0010284 biolink:PhenotypicFeature Intra-oral hyperpigmentation Increased pigmentation, either focal or generalized, of the mucosa of the mouth. UMLS:C4280389|UMLS:C4280388|UMLS:C4280387|UMLS:C0399483|UMLS:C0877541|SNOMEDCT_US:235038002 hp.json Gingival hyperpigmentation|Pigmented gums|Dark color of gums|Oral racial pigmentation|Hyperpigmentation of oral mucosa|Gingival melanin pigmentation|Oral mucosa melanin pigmentation|Dark colour of gums http://purl.obolibrary.org/obo/HP_0010284 hposlim_core HP:0034255 biolink:PhenotypicFeature Colovesicular fistula An aberrant, pathological communication between the colon and the bladder. hp.json Vesicocolic fistula http://purl.obolibrary.org/obo/HP_0034255 HP:4000041 biolink:PhenotypicFeature AA amyloidosis Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant. hp.json http://purl.obolibrary.org/obo/HP_4000041 HP:4000042 biolink:PhenotypicFeature Fracture type Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110). hp.json http://purl.obolibrary.org/obo/HP_4000042 HP:4000040 biolink:PhenotypicFeature Puerpural onset Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following. hp.json http://purl.obolibrary.org/obo/HP_4000040 HP:0009287 biolink:PhenotypicFeature Curved middle phalanx of the 4th finger Curved appearance of the middle phalanx of the 4th (ring) finger. UMLS:C4024468 hp.json Curved middle ring finger bone http://purl.obolibrary.org/obo/HP_0009287 HP:4000045 biolink:PhenotypicFeature Spiral fracture A type of fracture in which the break spirals around the bone. hp.json http://purl.obolibrary.org/obo/HP_4000045 HP:0009286 biolink:PhenotypicFeature Curved distal phalanx of the 4th finger Curved appearance of the distal phalanx of the 4th (ring) finger. UMLS:C4024469 hp.json Curved outermost ring finger bone http://purl.obolibrary.org/obo/HP_0009286 HP:4000046 biolink:PhenotypicFeature Oblique fracture A type of fracture in which there is a diagonal break across the bone. hp.json http://purl.obolibrary.org/obo/HP_4000046 HP:0009289 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanx of the 4th finger UMLS:C4024466 hp.json Absent/underdeveloped outermost ring finger bone|Absent/small outermost ring finger bone http://purl.obolibrary.org/obo/HP_0009289 HP:4000043 biolink:PhenotypicFeature Greenstick fracture A type of fracture in which the broken bone is not completely separated. hp.json Incomplete fracture http://purl.obolibrary.org/obo/HP_4000043 HP:0009288 biolink:PhenotypicFeature Curved proximal phalanx of the 4th finger UMLS:C4024467 hp.json Curved innermost ring finger bone http://purl.obolibrary.org/obo/HP_0009288 HP:4000044 biolink:PhenotypicFeature Transverse fracture A type of fracture in which the break is in a straight line across the bone. hp.json http://purl.obolibrary.org/obo/HP_4000044 HP:0034261 biolink:PhenotypicFeature Aplasia/Hypoplasia of facial bones A developmental defect characterized by absence or underdevelopment of one or more facial bone. hp.json http://purl.obolibrary.org/obo/HP_0034261 HP:4000038 biolink:PhenotypicFeature Infantile hydrocele Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation. hp.json http://purl.obolibrary.org/obo/HP_4000038 HP:0010272 biolink:PhenotypicFeature Fragmentation of the epiphyses of the proximal phalanges of the hand UMLS:C4023929 hp.json Fragmentation of the end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010272 HP:0034260 biolink:PhenotypicFeature Aplastic zygomatic arch Developmental defect characterized by the absence of the zygomatic arch. hp.json http://purl.obolibrary.org/obo/HP_0034260 HP:4000039 biolink:PhenotypicFeature Reduced proportion of mucosal-associated invariant T cells A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count. hp.json http://purl.obolibrary.org/obo/HP_4000039 HP:0010271 biolink:PhenotypicFeature Enlarged epiphyses of the proximal phalanges of the hand UMLS:C4023930 hp.json Enlarged end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010271 HP:4000036 biolink:PhenotypicFeature Encysted hydrocele of the cord A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it. hp.json http://purl.obolibrary.org/obo/HP_4000036 HP:0010270 biolink:PhenotypicFeature Cone-shaped epiphyses of the proximal phalanges of the hand UMLS:C4023931 hp.json Cone-shaped end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010270 CHEBI:76414 biolink:ChemicalSubstance propellant A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans. PMID:24001847|PMID:22519407 hp.json propellants http://purl.obolibrary.org/obo/CHEBI_76414 3_STAR HP:0034263 biolink:PhenotypicFeature Abnormal vaginal bleeding Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal. hp.json http://purl.obolibrary.org/obo/HP_0034263 HP:4000037 biolink:PhenotypicFeature Congenital hydrocele Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through. hp.json http://purl.obolibrary.org/obo/HP_4000037 HP:0034262 biolink:PhenotypicFeature Absent lanugo Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby. hp.json http://purl.obolibrary.org/obo/HP_0034262 HP:0034269 biolink:PhenotypicFeature Abnormal vaginal discharge Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina hp.json http://purl.obolibrary.org/obo/HP_0034269 HP:0034268 biolink:PhenotypicFeature Abnormal vaginal physiology Any anomaly of vagina function. hp.json http://purl.obolibrary.org/obo/HP_0034268 HP:0010278 biolink:PhenotypicFeature Triangular epiphyses of the proximal phalanges of the hand UMLS:C4023923 hp.json Triangular end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010278 HP:0010277 biolink:PhenotypicFeature Stippling of the epiphyses of the proximal phalanges of the hand UMLS:C4023924 hp.json Speckled calcifications in the end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010277 HP:0010276 biolink:PhenotypicFeature Small epiphyses of the proximal phalanges of the hand UMLS:C4023925 hp.json Small end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010276 HP:0034265 biolink:PhenotypicFeature Mastalgia Pain in the breast. hp.json Breast pain|Painful breast http://purl.obolibrary.org/obo/HP_0034265 HP:0010275 biolink:PhenotypicFeature Pseudoepiphyses of the proximal phalanges of the hand A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4023926 hp.json http://purl.obolibrary.org/obo/HP_0010275 HP:0034264 biolink:PhenotypicFeature Postcoital vaginal bleeding Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle. hp.json Bleeding after sex http://purl.obolibrary.org/obo/HP_0034264 HP:0010274 biolink:PhenotypicFeature Ivory epiphyses of the proximal phalanges of the hand Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. UMLS:C4023927 hp.json Increased bone density of end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010274 HP:0034267 biolink:PhenotypicFeature Pelvic pain Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones. hp.json Pain in the pelvis http://purl.obolibrary.org/obo/HP_0034267 HP:0034266 biolink:PhenotypicFeature Vaginal bleeding during sex Bleeding during sex. hp.json http://purl.obolibrary.org/obo/HP_0034266 HP:0010273 biolink:PhenotypicFeature Irregular epiphyses of the proximal phalanges of the hand UMLS:C4023928 hp.json Irregular end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010273 HP:4000030 biolink:PhenotypicFeature Anti-reticulin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin. hp.json http://purl.obolibrary.org/obo/HP_4000030 HP:4000031 biolink:PhenotypicFeature Anti-type VII collagen antibody The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII. hp.json http://purl.obolibrary.org/obo/HP_4000031 HP:4000034 biolink:PhenotypicFeature Infection-ssociated lymphopenia Decreased lymphocyte count during infections. hp.json Infection-ssociated lymphocytopenia http://purl.obolibrary.org/obo/HP_4000034 HP:0009298 biolink:PhenotypicFeature Aplasia of the proximal phalanx of the 4th finger Absence of the proximal phalanx of the ring (4th) finger. UMLS:C4024460 hp.json Absent innermost ring finger bone http://purl.obolibrary.org/obo/HP_0009298 CHEBI:76413 biolink:ChemicalSubstance greenhouse gas A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'. Wikipedia:Greenhouse_gas hp.json greenhouse gases http://purl.obolibrary.org/obo/CHEBI_76413 3_STAR HP:0009297 biolink:PhenotypicFeature Osteolytic defects of the middle phalanx of the 4th finger Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger. UMLS:C4024461 hp.json http://purl.obolibrary.org/obo/HP_0009297 HP:4000035 biolink:PhenotypicFeature Primary obstructive megaureter Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction. hp.json http://purl.obolibrary.org/obo/HP_4000035 HP:4000032 biolink:PhenotypicFeature False perception of self-motion A perception that one's body is moving or swaying despite lack of motion of the body. hp.json http://purl.obolibrary.org/obo/HP_4000032 HP:4000033 biolink:PhenotypicFeature Non-spinning vertigo A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving). hp.json http://purl.obolibrary.org/obo/HP_4000033 HP:0009299 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle phalanx of the 4th finger UMLS:C4024459 hp.json Absent/underdeveloped middle ring finger bone|Absent/small middle ring finger bone http://purl.obolibrary.org/obo/HP_0009299 HP:0010261 biolink:PhenotypicFeature Fragmentation of the epiphyses of the middle phalanges of the hand Fragmented appearance of the epiphyses of the middle phalanges of the hand. UMLS:C4023940 hp.json Fragmentation of the end part of the middle hand bones http://purl.obolibrary.org/obo/HP_0010261 HP:0009272 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 4th finger A small/hypoplastic or absent/aplastic 4th (ring) finger. UMLS:C4024478 hp.json Absent/underdeveloped ring finger bone|Absent/small ring finger bone http://purl.obolibrary.org/obo/HP_0009272 HP:0034272 biolink:PhenotypicFeature Perifoveal hypoautofluorescence Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea. hp.json http://purl.obolibrary.org/obo/HP_0034272 HP:4000027 biolink:PhenotypicFeature anti-LAD-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180. hp.json http://purl.obolibrary.org/obo/HP_4000027 HP:0009271 biolink:PhenotypicFeature Triangular epiphysis of the proximal phalanx of the 4th finger A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4021505 hp.json Triangular end part of the innermost bone of ring finger|Delta-shaped epiphysis of the proximal phalanx of the 4th finger http://purl.obolibrary.org/obo/HP_0009271 HP:0010260 biolink:PhenotypicFeature Enlarged epiphyses of the middle phalanges of the hand UMLS:C4023941 hp.json Enlarged end part of the middle hand bones http://purl.obolibrary.org/obo/HP_0010260 HP:0034271 biolink:PhenotypicFeature Copper beaten skull Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper. hp.json http://purl.obolibrary.org/obo/HP_0034271 HP:4000028 biolink:PhenotypicFeature Anti-LABD97 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion. hp.json http://purl.obolibrary.org/obo/HP_4000028 HP:4000025 biolink:PhenotypicFeature Anti-integrin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth. hp.json http://purl.obolibrary.org/obo/HP_4000025 HP:0009274 biolink:PhenotypicFeature Joint contracture of the 4th finger Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected. UMLS:C4021504 hp.json Joint contractures of the fourth finger http://purl.obolibrary.org/obo/HP_0009274 HP:0034274 biolink:PhenotypicFeature Gastrointestinal ulcer A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae. hp.json http://purl.obolibrary.org/obo/HP_0034274 HP:0034273 biolink:PhenotypicFeature Premature sagging cheeks Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation. hp.json Premature facial sagging http://purl.obolibrary.org/obo/HP_0034273 HP:0009273 biolink:PhenotypicFeature Deviation of the 4th finger Displacement of the 4th finger from its normal position. UMLS:C4024477 hp.json Deviation of the ring finger http://purl.obolibrary.org/obo/HP_0009273 HP:4000026 biolink:PhenotypicFeature Anti-transglutaminase 6 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6. hp.json http://purl.obolibrary.org/obo/HP_4000026 PR:000014841 biolink:Protein sonic hedgehog protein A protein that is a translation product of the human SHH gene or a 1:1 ortholog thereof. hp.json SHH|Hhg1|Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains|HHG-1|ShhNC http://purl.obolibrary.org/obo/PR_000014841 HP:0009270 biolink:PhenotypicFeature Stippling of the epiphysis of the proximal phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger. UMLS:C4024479 hp.json Speckled calcifications in end part of the innermost bone of ring finger http://purl.obolibrary.org/obo/HP_0009270 HP:0034270 biolink:PhenotypicFeature Serrated incisors Incisor teeth with irregular edges said to resemble a saw. hp.json Jagged incisors http://purl.obolibrary.org/obo/HP_0034270 HP:4000029 biolink:PhenotypicFeature Antigliadin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin. hp.json AGA autoantibodies http://purl.obolibrary.org/obo/HP_4000029 HP:0010269 biolink:PhenotypicFeature Bracket epiphyses of the proximal phalanges of the hand An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4023932 hp.json Bracket shaped end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010269 HP:0010268 biolink:PhenotypicFeature Absent epiphyses of the proximal phalanges of the hand UMLS:C4023933 hp.json Absent end part of the innermost hand bones http://purl.obolibrary.org/obo/HP_0010268 HP:0034279 biolink:PhenotypicFeature 2,8-dihydroxyadenine crystalluria The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals. hp.json 2,8-dihydroxyadenine urinary crystals http://purl.obolibrary.org/obo/HP_0034279 HP:0010267 biolink:PhenotypicFeature Triangular epiphyses of the middle phalanges of the hand UMLS:C4023934 hp.json Triangular end part of the middle hand bones http://purl.obolibrary.org/obo/HP_0010267 HP:0010266 biolink:PhenotypicFeature Stippling of the epiphyses of the middle phalanges of the hand UMLS:C4023935 hp.json Speckled calcifications in the end part of the middle hand bones http://purl.obolibrary.org/obo/HP_0010266 HP:0010265 biolink:PhenotypicFeature Small epiphyses of the middle phalanges of the hand UMLS:C4023936 hp.json Small end part of the middle hand bones http://purl.obolibrary.org/obo/HP_0010265 HP:0034276 biolink:PhenotypicFeature Elevated circulating thymidine concentration Concentration of thymidine in the blood circulation above the normal range. hp.json Increased serum thymidine http://purl.obolibrary.org/obo/HP_0034276 HP:0034275 biolink:PhenotypicFeature Verrucous epidermal nevus A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life. hp.json http://purl.obolibrary.org/obo/HP_0034275 HP:0010264 biolink:PhenotypicFeature Pseudoepiphyses of the middle phalanges of the hand A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4023937 hp.json http://purl.obolibrary.org/obo/HP_0010264 HP:0034278 biolink:PhenotypicFeature Multinucleated erythroblast Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis. hp.json Multinucleate erythroblast http://purl.obolibrary.org/obo/HP_0034278 HP:0010263 biolink:PhenotypicFeature Ivory epiphyses of the middle phalanges of the hand Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. UMLS:C4023938 hp.json Increased bone density of end part of the middle hand bones http://purl.obolibrary.org/obo/HP_0010263 HP:0034277 biolink:PhenotypicFeature Elevated circulating deoxyuridine concentration Concentration of 2-deoxyuridine in the blood circulation is above the normal range. hp.json http://purl.obolibrary.org/obo/HP_0034277 HP:0010262 biolink:PhenotypicFeature Irregular epiphyses of the middle phalanges of the hand UMLS:C4023939 hp.json Irregular end part of middle hand bones http://purl.obolibrary.org/obo/HP_0010262 HP:0009269 biolink:PhenotypicFeature Small epiphysis of the proximal phalanx of the 4th finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. UMLS:C4024480 hp.json Small end part of the innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009269 HP:4000020 biolink:PhenotypicFeature Anti-BP180 antibody positivity Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen. hp.json http://purl.obolibrary.org/obo/HP_4000020 HP:0009268 biolink:PhenotypicFeature Pseudoepiphysis of the proximal phalanx of the 4th finger A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4024481 hp.json http://purl.obolibrary.org/obo/HP_0009268 HP:0009265 biolink:PhenotypicFeature Fragmentation of the epiphysis of the proximal phalanx of the 4th finger Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger. UMLS:C4024484 hp.json Fragmentation of end part of the innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009265 HP:4000023 biolink:PhenotypicFeature Anti-laminin gamma1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1. hp.json http://purl.obolibrary.org/obo/HP_4000023 HP:0009264 biolink:PhenotypicFeature Enlarged epiphysis of the proximal phalanx of the 4th finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. UMLS:C4024485 hp.json Enlarged end part of the innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009264 HP:4000024 biolink:PhenotypicFeature Anti-laminin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane. hp.json http://purl.obolibrary.org/obo/HP_4000024 HP:0009267 biolink:PhenotypicFeature Ivory epiphysis of the proximal phalanx of the 4th finger Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024482 hp.json Increased bone density of end part of the innermost ring finger bone http://purl.obolibrary.org/obo/HP_0009267 HP:4000021 biolink:PhenotypicFeature Anti-laminin 332 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332. hp.json Anti-laminin 5 antibody positivity http://purl.obolibrary.org/obo/HP_4000021 HP:0009266 biolink:PhenotypicFeature Irregular epiphysis of the proximal phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger. UMLS:C4024483 hp.json Irregular end part of the innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009266 HP:4000022 biolink:PhenotypicFeature Anti-laminin 6 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6. hp.json http://purl.obolibrary.org/obo/HP_4000022 HP:0034283 biolink:PhenotypicFeature Increased fecal protoporphyrin concentration Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces. hp.json http://purl.obolibrary.org/obo/HP_0034283 HP:0010250 biolink:PhenotypicFeature Fragmentation of the epiphyses of the distal phalanges of the hand UMLS:C4023949 hp.json Fragmentation of the end part of the outermost hand bones http://purl.obolibrary.org/obo/HP_0010250 HP:0009283 biolink:PhenotypicFeature Abnormality of the middle phalanx of the 4th finger UMLS:C4021501 hp.json Abnormality of the middle phalanx of the ring finger|Abnormal middle bone of ring finger http://purl.obolibrary.org/obo/HP_0009283 HP:4000016 biolink:PhenotypicFeature Anti-periplakin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin. hp.json http://purl.obolibrary.org/obo/HP_4000016 HP:0009282 biolink:PhenotypicFeature Abnormality of the distal phalanx of the 4th finger UMLS:C4024471 hp.json Abnormality of the outermost bone of ring finger http://purl.obolibrary.org/obo/HP_0009282 UBERON:0010190 biolink:AnatomicalEntity pair of dorsal aortae The paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation. MA:0000476|EHDAA2:0000410|EMAPA:18606 hp.json paired dorsal aortae http://purl.obolibrary.org/obo/UBERON_0010190 pheno_slim HP:0034282 biolink:PhenotypicFeature Subcutaneous ossification Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation. hp.json http://purl.obolibrary.org/obo/HP_0034282 HP:4000017 biolink:PhenotypicFeature Anti-desmoplakin I antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1. hp.json http://purl.obolibrary.org/obo/HP_4000017 HP:0009285 biolink:PhenotypicFeature Curved phalanges of the 4th finger Curved appearance of the phalanges of the 4th (ring) finger. UMLS:C4024470 hp.json Curved ring finger bone http://purl.obolibrary.org/obo/HP_0009285 HP:4000014 biolink:PhenotypicFeature Anti-desmoglein-3 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule. hp.json http://purl.obolibrary.org/obo/HP_4000014 HP:0034285 biolink:PhenotypicFeature Enteroviral encephalitis Inflamation of the brain related to infection by an enterovirus. hp.json http://purl.obolibrary.org/obo/HP_0034285 HP:0034284 biolink:PhenotypicFeature Recurrent gingivitis Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection. hp.json http://purl.obolibrary.org/obo/HP_0034284 HP:0009284 biolink:PhenotypicFeature Abnormality of the proximal phalanx of the 4th finger UMLS:C4021500 hp.json Abnormality of the proximal phalanx of the ring finger|Abnormal innermost bone of ring finger http://purl.obolibrary.org/obo/HP_0009284 HP:4000015 biolink:PhenotypicFeature Anti-envoplakin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions. hp.json http://purl.obolibrary.org/obo/HP_4000015 UBERON:0010194 biolink:AnatomicalEntity hepatic portal system A portal system that begins in capillaries in the wall of the digestive tract and and runs as the hepatic portal vein to the liver. AAO:0010225 hp.json hepatic-portal system|portal system of liver http://purl.obolibrary.org/obo/UBERON_0010194 HP:0009281 biolink:PhenotypicFeature Aplasia of the 4th finger Absent 4th finger. UMLS:C4024472 hp.json Absent ring finger http://purl.obolibrary.org/obo/HP_0009281 HP:0034281 biolink:PhenotypicFeature Phalangeal cone-shaped epiphyses Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. hp.json Cone-shaped epiphyses of phalanges|Cone-shaped phalangeal epiphyses http://purl.obolibrary.org/obo/HP_0034281 HP:4000018 biolink:PhenotypicFeature Anti-desmoplakin II antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II. hp.json http://purl.obolibrary.org/obo/HP_4000018 UBERON:0010191 biolink:AnatomicalEntity aortic system EHDAA2:0004512 hp.json http://purl.obolibrary.org/obo/UBERON_0010191 UBERON:0010192 biolink:AnatomicalEntity genital artery One of the laterally paired arteries that supply the gonads. Wikipedia:Gonadal_artery hp.json gonadal artery http://purl.obolibrary.org/obo/UBERON_0010192 HP:0009280 biolink:PhenotypicFeature Short 4th finger Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger. UMLS:C4021502 hp.json Short ring finger|Hypoplastic/small 4th finger http://purl.obolibrary.org/obo/HP_0009280 HP:4000019 biolink:PhenotypicFeature Anti-BP230 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against BP230. hp.json http://purl.obolibrary.org/obo/HP_4000019 HP:0034280 biolink:PhenotypicFeature Target cells Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target. hp.json Codocytes http://purl.obolibrary.org/obo/HP_0034280 HP:0010258 biolink:PhenotypicFeature Bracket epiphyses of the middle phalanges of the hand An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4023942 hp.json Bracket shaped end part of the middle hand bones http://purl.obolibrary.org/obo/HP_0010258 HP:0010257 biolink:PhenotypicFeature Absent epiphyses of the middle phalanges of the hand UMLS:C4023943 hp.json Absent end part of the middle hand bones http://purl.obolibrary.org/obo/HP_0010257 HP:0010256 biolink:PhenotypicFeature Triangular epiphyses of the distal phalanges of the hand UMLS:C4023944 hp.json Triangular end part of the outermost hand bones http://purl.obolibrary.org/obo/HP_0010256 HP:0010255 biolink:PhenotypicFeature Stippling of the epiphyses of the distal phalanges of the hand UMLS:C4023945 hp.json Speckled calcifications in the end part of the outermost hand bones http://purl.obolibrary.org/obo/HP_0010255 HP:0010254 biolink:PhenotypicFeature Small epiphyses of the distal phalanges of the hand UMLS:C4023946 hp.json Small end part of the outermost hand bones http://purl.obolibrary.org/obo/HP_0010254 HP:0034287 biolink:PhenotypicFeature Afibrinogenemia Lack of detectable fibrinogen in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034287 HP:0034286 biolink:PhenotypicFeature Pneumocystis carinii pneumonia Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations. hp.json http://purl.obolibrary.org/obo/HP_0034286 HP:0010253 biolink:PhenotypicFeature Pseudoepiphyses of the distal phalanges of the hand A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. UMLS:C4023947 hp.json http://purl.obolibrary.org/obo/HP_0010253 UBERON:0010199 biolink:AnatomicalEntity bona-fide anatomical boundary An anatomical boundary that corresponds to some physical discontinuity. CARO:0001004 hp.json http://purl.obolibrary.org/obo/UBERON_0010199 upper_level HP:0010252 biolink:PhenotypicFeature Ivory epiphyses of the distal phalanges of the hand Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. UMLS:C4021301 hp.json Increased bone density of end part of the outermost hand bones|Eburnated epiphyses of distal phalanges http://purl.obolibrary.org/obo/HP_0010252 HP:0034289 biolink:PhenotypicFeature Elevated circulating rT3/T3 ratio An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034289 HP:0034288 biolink:PhenotypicFeature Elevated circulating reverse T3 concentration Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation. hp.json Elevated rT3|Elevated circulating reverse triiodothyronine concentration http://purl.obolibrary.org/obo/HP_0034288 HP:0010251 biolink:PhenotypicFeature Irregular epiphyses of the distal phalanges of the hand UMLS:C4023948 hp.json Irregular end part of the outermost hand bones http://purl.obolibrary.org/obo/HP_0010251 HP:0010259 biolink:PhenotypicFeature Cone-shaped epiphyses of the middle phalanges of the hand UMLS:C1860828 hp.json Cone-shaped end part of the middle hand bones|Cone-shaped epiphyses of middle phalanges http://purl.obolibrary.org/obo/HP_0010259 HP:0009279 biolink:PhenotypicFeature Radial deviation of the 4th finger Displacement of the 4th finger towards the radial side (i.e., towards the thumb). UMLS:C4024473 hp.json Radial deviation of the ring finger http://purl.obolibrary.org/obo/HP_0009279 HP:0009276 biolink:PhenotypicFeature Contracture of the proximal interphalangeal joint of the 4th finger Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. UMLS:C4021503 hp.json 4th finger camptodactyly|Camptodactyly of the 4th finger|Camptodactyly of the ring finger http://purl.obolibrary.org/obo/HP_0009276 HP:4000012 biolink:PhenotypicFeature Necrotizing ileitis hp.json http://purl.obolibrary.org/obo/HP_4000012 HP:0009275 biolink:PhenotypicFeature Contracture of the distal interphalangeal joint of the 4th finger Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. UMLS:C4024476 hp.json http://purl.obolibrary.org/obo/HP_0009275 HP:4000013 biolink:PhenotypicFeature Anti-desmoglein-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule. hp.json http://purl.obolibrary.org/obo/HP_4000013 HP:4000010 biolink:PhenotypicFeature Impaired renal tubular reabsorption of bicarbonate Decreased renal tubular reabsorption of bicarbonate. hp.json http://purl.obolibrary.org/obo/HP_4000010 HP:0009278 biolink:PhenotypicFeature Ulnar deviation of the 4th finger Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger). UMLS:C4024474 hp.json Ulnar deviation of the ring finger http://purl.obolibrary.org/obo/HP_0009278 HP:0009277 biolink:PhenotypicFeature Contracture of the metacarpophalangeal joint of the 4th finger Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue. UMLS:C4024475 hp.json http://purl.obolibrary.org/obo/HP_0009277 HP:4000011 biolink:PhenotypicFeature History of congenital HPV infection A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn. hp.json http://purl.obolibrary.org/obo/HP_4000011 HP:4000005 biolink:PhenotypicFeature Pericardial late gadolinium enhancement Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium. hp.json http://purl.obolibrary.org/obo/HP_4000005 HP:4000006 biolink:PhenotypicFeature Elevated myocardial native T1 Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity. hp.json Prolonged myocardial native T1 http://purl.obolibrary.org/obo/HP_4000006 HP:4000003 biolink:PhenotypicFeature Elevated myocardial native T2 Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema. hp.json http://purl.obolibrary.org/obo/HP_4000003 HP:4000004 biolink:PhenotypicFeature Myocardial late gadolinium enhancement Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium. hp.json Delayed myocardial gadolinium enhancement http://purl.obolibrary.org/obo/HP_4000004 HP:4000009 biolink:PhenotypicFeature Kinesiophobia An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury. hp.json http://purl.obolibrary.org/obo/HP_4000009 HP:4000007 biolink:PhenotypicFeature Bronchoconstriction Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. hp.json Constriction of the bronchi|Bronchial constriction http://purl.obolibrary.org/obo/HP_4000007 HP:4000008 biolink:PhenotypicFeature Formation of multiple pronuclei during fertilization Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. hp.json http://purl.obolibrary.org/obo/HP_4000008 HP:0034214 biolink:PhenotypicFeature Fetal intraventricular hemorrhage without ventriculomegaly A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium. hp.json Grade II fetal intracranial hemorrhage http://purl.obolibrary.org/obo/HP_0034214 HP:0034213 biolink:PhenotypicFeature Fetal posterior fossa hemorrhage A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum. hp.json http://purl.obolibrary.org/obo/HP_0034213 HP:0034216 biolink:PhenotypicFeature Fetal cerebellar vermis hemorrhage A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum. hp.json http://purl.obolibrary.org/obo/HP_0034216 HP:0034215 biolink:PhenotypicFeature Fetal cerebellar hemisphere hemorrhage A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum. hp.json http://purl.obolibrary.org/obo/HP_0034215 HP:0034210 biolink:PhenotypicFeature Fetal intraventricular hemorrhage A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain. hp.json http://purl.obolibrary.org/obo/HP_0034210 HP:0034212 biolink:PhenotypicFeature Fetal extra-axial hemorrhage A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space). hp.json http://purl.obolibrary.org/obo/HP_0034212 HP:0034211 biolink:PhenotypicFeature Fetal cerebral parenchymal hemorrhage A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain. hp.json http://purl.obolibrary.org/obo/HP_0034211 CL:0000287 biolink:Cell eye photoreceptor cell hp.json http://purl.obolibrary.org/obo/CL_0000287 HP:0034218 biolink:PhenotypicFeature Fetal intraventricular hemorrhage with ventriculomegaly A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography. hp.json Grade III fetal intracranial hemorrhage http://purl.obolibrary.org/obo/HP_0034218 HP:0034217 biolink:PhenotypicFeature Sonographic non-visualized fetal bladder Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation. hp.json http://purl.obolibrary.org/obo/HP_0034217 HP:0034219 biolink:PhenotypicFeature Fetal intraventricular hemorrhage with periventricular hemorrhage A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma. hp.json Grade IV fetal intracranial hemorrhage http://purl.obolibrary.org/obo/HP_0034219 PR:000012234 biolink:Protein phenylalanine-4-hydroxylase A protein that is a translation product of the human PAH gene or a 1:1 ortholog thereof. IUPHARobj:1240 hp.json PAH|Phe-4-monooxygenase http://purl.obolibrary.org/obo/PR_000012234 HP:4000001 biolink:PhenotypicFeature Abnormal cardiac magnetic resonance imaging finding Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately. hp.json http://purl.obolibrary.org/obo/HP_4000001 HP:0034225 biolink:PhenotypicFeature Reversed end-diastolic umbilical artery flow An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow). hp.json http://purl.obolibrary.org/obo/HP_0034225 HP:0034224 biolink:PhenotypicFeature Absent end-diastolic umbilical artery flow An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole. hp.json http://purl.obolibrary.org/obo/HP_0034224 HP:0034227 biolink:PhenotypicFeature Aortic isthmus hypoplasia A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta. hp.json http://purl.obolibrary.org/obo/HP_0034227 HP:0034226 biolink:PhenotypicFeature Champagne cork sign Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding. hp.json http://purl.obolibrary.org/obo/HP_0034226 HP:0034221 biolink:PhenotypicFeature Abnormal temporal lobe morphology An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres. hp.json http://purl.obolibrary.org/obo/HP_0034221 HP:0034220 biolink:PhenotypicFeature Temporal lobe megalencephaly Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain. hp.json http://purl.obolibrary.org/obo/HP_0034220 HP:0034223 biolink:PhenotypicFeature Elevated umbilical artery pulsatility Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth. hp.json Elevated umbilical artery Dopplers|Increased umbilical artery pulsatility index http://purl.obolibrary.org/obo/HP_0034223 HP:0034222 biolink:PhenotypicFeature Temporal lobe dysplasia A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations. hp.json http://purl.obolibrary.org/obo/HP_0034222 CL:0000295 biolink:Cell somatotropin secreting cell A peptide hormone secreting cell that produces growth hormone, somatotropin. hp.json somatotrophin secreting cell|growth hormone secreting cell http://purl.obolibrary.org/obo/CL_0000295 HP:0034229 biolink:PhenotypicFeature Distal aortic arch hypoplasia A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta. hp.json http://purl.obolibrary.org/obo/HP_0034229 HP:0034228 biolink:PhenotypicFeature Proximal aortic arch hypoplasia A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta. hp.json http://purl.obolibrary.org/obo/HP_0034228 CL:0000293 biolink:Cell structural cell A cell whose primary function is to provide structural support, to provide strength and physical integrity to the organism. hp.json http://purl.obolibrary.org/obo/CL_0000293 HP:0034230 biolink:PhenotypicFeature Inferior crossed fused renal ectopia A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). hp.json Type A cross fused renal ectopia http://purl.obolibrary.org/obo/HP_0034230 HP:0034236 biolink:PhenotypicFeature Apnea of prematurity Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation. hp.json AOP http://purl.obolibrary.org/obo/HP_0034236 HP:0034235 biolink:PhenotypicFeature Superior crossed-fused renal ectopia A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. hp.json http://purl.obolibrary.org/obo/HP_0034235 HP:0034238 biolink:PhenotypicFeature Closed neural tube defect A type of neural tube defect that is covered by skin. hp.json http://purl.obolibrary.org/obo/HP_0034238 HP:0034237 biolink:PhenotypicFeature Open neural tube defect A type of neural tube defect that is not covered by skin. hp.json http://purl.obolibrary.org/obo/HP_0034237 HP:0034232 biolink:PhenotypicFeature Unilateral lump kidney A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. hp.json Type C cross fused renal ectopia http://purl.obolibrary.org/obo/HP_0034232 HP:0034231 biolink:PhenotypicFeature Sigmoid kidney A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. hp.json Type B cross fused renal ectopia|S-shaped kidney http://purl.obolibrary.org/obo/HP_0034231 HP:0034234 biolink:PhenotypicFeature L-shaped kidney A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. hp.json Type E cross fused renal ectopia|Tandem kidney http://purl.obolibrary.org/obo/HP_0034234 HP:0034233 biolink:PhenotypicFeature Disc kidney A type of cross fused renal ectopia in which kidneys fuse along their medial borders. hp.json Type D cross fused renal ectopia http://purl.obolibrary.org/obo/HP_0034233 HP:0034239 biolink:PhenotypicFeature Renal vein thrombosis The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output. hp.json http://purl.obolibrary.org/obo/HP_0034239 ENVO:01000254 biolink:NamedThing environmental system hp.json http://purl.obolibrary.org/obo/ENVO_01000254 HP:0010294 biolink:PhenotypicFeature Palate fistula A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. UMLS:C4280385|UMLS:C2032780 hp.json Palatal hole|Palatal perforation|Hole in roof of mouth http://purl.obolibrary.org/obo/HP_0010294 HP:0010293 biolink:PhenotypicFeature Aplasia/Hypoplasia of the uvula Underdevelopment or absence of the uvula. UMLS:C4023917 hp.json Aplasia/hypoplasia of palatine uvula http://purl.obolibrary.org/obo/HP_0010293 HP:0010292 biolink:PhenotypicFeature Absent uvula Lack of the uvula. SNOMEDCT_US:25148007|UMLS:C0266121 hp.json Uvula aplasia|Congenital absence of uvula|Agenesis of uvula|Absent palatine uvula|Missing uvula http://purl.obolibrary.org/obo/HP_0010292 hposlim_core HP:0034241 biolink:PhenotypicFeature Prenatal death Death of a fetus in the uterus. hp.json Death before birth|Intrauterine death http://purl.obolibrary.org/obo/HP_0034241 HP:0034240 biolink:PhenotypicFeature Fetal neck mass An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more. hp.json http://purl.obolibrary.org/obo/HP_0034240 HP:0010291 biolink:PhenotypicFeature Prominent palatine ridges Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. UMLS:C4021300 hp.json Prominent lateral palatal folds|Prominent lateral palatal ridges|Prominent palatine folds|Large lateral palatal ridges|Large lateral palatal folds http://purl.obolibrary.org/obo/HP_0010291 hposlim_core GO:1904707 biolink:BiologicalProcess positive regulation of vascular associated smooth muscle cell proliferation Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation. hp.json up-regulation of VSMC proliferation|up-regulation of vascular smooth muscle cell proliferation|activation of VSMC proliferation|up regulation of vascular smooth muscle cell proliferation|activation of vascular smooth muscle cell proliferation|upregulation of VSMC proliferation|positive regulation of vascular smooth muscle cell proliferation|upregulation of vascular smooth muscle cell proliferation|positive regulation of VSMC proliferation|up regulation of VSMC proliferation http://purl.obolibrary.org/obo/GO_1904707 HP:0010290 biolink:PhenotypicFeature Short hard palate Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). UMLS:C4020772|UMLS:C1398301|UMLS:C4023918 hp.json Hypoplastic palate|Decreased length of hard palate|Short palate http://purl.obolibrary.org/obo/HP_0010290 GO:1904706 biolink:BiologicalProcess negative regulation of vascular associated smooth muscle cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation. hp.json downregulation of VSMC proliferation|inhibition of vascular smooth muscle cell proliferation|downregulation of vascular smooth muscle cell proliferation|down regulation of VSMC proliferation|inhibition of VSMC proliferation|negative regulation of VSMC proliferation|down-regulation of VSMC proliferation|down-regulation of vascular smooth muscle cell proliferation|negative regulation of vascular smooth muscle cell proliferation|down regulation of vascular smooth muscle cell proliferation http://purl.obolibrary.org/obo/GO_1904706 GO:1904705 biolink:BiologicalProcess regulation of vascular associated smooth muscle cell proliferation Any process that modulates the frequency, rate or extent of vascular smooth muscle cell proliferation. hp.json regulation of VSMC proliferation|regulation of vascular smooth muscle cell proliferation http://purl.obolibrary.org/obo/GO_1904705 HP:0034247 biolink:PhenotypicFeature Fetal lower urinary tract obstruction An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis. hp.json http://purl.obolibrary.org/obo/HP_0034247 HP:0034246 biolink:PhenotypicFeature Fetal scalp mass An abnormal growth (lump) of tissue that projects from the fetal scalp. hp.json http://purl.obolibrary.org/obo/HP_0034246 HP:0034249 biolink:PhenotypicFeature Severe influenza infection An unusually severe infection by an influenza virus. hp.json http://purl.obolibrary.org/obo/HP_0034249 HP:0034248 biolink:PhenotypicFeature Increased fetal lens echogenicity Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus. hp.json http://purl.obolibrary.org/obo/HP_0034248 HP:0010299 biolink:PhenotypicFeature Abnormal dentin morphology Any abnormality of dentin. UMLS:C4021299 hp.json Abnormal dentin|Abnormality of dentine|Abnormality of dentin|Dentin anomaly http://purl.obolibrary.org/obo/HP_0010299 hposlim_core HP:0010298 biolink:PhenotypicFeature Smooth tongue Glossy appearance of the entire tongue surface. UMLS:C4280383|UMLS:C4280382|UMLS:C4280381|UMLS:C0155964|SNOMEDCT_US:9491003 hp.json Smooth dorsum of tongue|Atrophy of lingual surface|Atrophy of tongue surface|Smooth surface of tongue|Atrophy of dorsum of tongue|Smooth lingual surface|Smooth tongue http://purl.obolibrary.org/obo/HP_0010298 hposlim_core HP:0034243 biolink:PhenotypicFeature Abnormal fetal pulmonary morphology An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. hp.json http://purl.obolibrary.org/obo/HP_0034243 HP:0010297 biolink:PhenotypicFeature Bifid tongue Tongue with a median apical indentation or fork. SNOMEDCT_US:84557007|UMLS:C4255098|UMLS:C0266111 hp.json Snake tongue|Bifurcated tongue|Cleft tongue|Split tongue|Bilobed tongue|Forked tongue http://purl.obolibrary.org/obo/HP_0010297 hposlim_core HP:0034242 biolink:PhenotypicFeature Abnormal fetal genitourinary system morphology An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. hp.json http://purl.obolibrary.org/obo/HP_0034242 HP:0010296 biolink:PhenotypicFeature Ankyloglossia Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. SNOMEDCT_US:67787004|UMLS:C0152415|MSH:D000072676 hp.json Tongue tied|Tongue tie http://purl.obolibrary.org/obo/HP_0010296 HP:0034245 biolink:PhenotypicFeature Fetal head anomaly hp.json http://purl.obolibrary.org/obo/HP_0034245 HP:0010295 biolink:PhenotypicFeature Aplasia/Hypoplasia of the tongue Absence or underdevelopment of the tongue. UMLS:C4280384|UMLS:C4023916 hp.json Lingual aplasia/hypoplasia http://purl.obolibrary.org/obo/HP_0010295 HP:0034244 biolink:PhenotypicFeature Gastric pseudomass At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass. hp.json http://purl.obolibrary.org/obo/HP_0034244 CHEBI:25699 biolink:ChemicalSubstance organic ion hp.json organic ions http://purl.obolibrary.org/obo/CHEBI_25699 3_STAR CHEBI:25698 biolink:ChemicalSubstance ether An organooxygen compound with formula ROR, where R is not hydrogen. hp.json ethers|ethers|ether http://purl.obolibrary.org/obo/CHEBI_25698 3_STAR HP:0007270 biolink:PhenotypicFeature Atypical absence seizure An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. SNOMEDCT_US:23374007|UMLS:C0595948 hp.json Atypical petit mal seizures|Atypical absence|Atypical absence seizures http://purl.obolibrary.org/obo/HP_0007270 CHEBI:25697 biolink:ChemicalSubstance organic cation Any organic ion with a net positive charge. hp.json organic cations http://purl.obolibrary.org/obo/CHEBI_25697 3_STAR HP:0007271 biolink:PhenotypicFeature Occipital myelomeningocele UMLS:C4024912 hp.json http://purl.obolibrary.org/obo/HP_0007271 HP:0007272 biolink:PhenotypicFeature Progressive psychomotor deterioration UMLS:C1856565 hp.json Progressive mental and motor deterioration http://purl.obolibrary.org/obo/HP_0007272 CHEBI:25696 biolink:ChemicalSubstance organic anion Any organic ion with a net negative charge. hp.json organic anions http://purl.obolibrary.org/obo/CHEBI_25696 3_STAR UBERON:0000457 biolink:AnatomicalEntity cavernous artery Any of several small branches of the internal carotid artery that supply the trigeminal ganglion and the walls of the cavernous and petrosal sinuses. BTO:0002996|FMA:70527 hp.json cavernous branch of cavernous part of internal carotid artery|ramus sinus cavernosi (pars cavernosa) (arteria carotis interna) http://purl.obolibrary.org/obo/UBERON_0000457 UBERON:0000458 biolink:AnatomicalEntity endocervix The region of the opening of the uterine cervix into the uterine cavity. FMA:86485|BTO:0003002|NCIT:C12309|UMLS:C0227837 hp.json http://purl.obolibrary.org/obo/UBERON_0000458 human_reference_atlas UBERON:0000459 biolink:AnatomicalEntity uterine wall An anatomical wall that is part of a uterus [Automatically generated definition]. SCTID:245485002|FMA:17560|BTO:0003083 hp.json anatomical wall of uterus|uterus anatomical wall|uterus wall|wall of uterus http://purl.obolibrary.org/obo/UBERON_0000459 HP:0032233 biolink:PhenotypicFeature Increased circulating creatine kinase BB isoform An increased concentration of the BB isoform of creatine kinase in the blood circulation. hp.json Increased circulating CK BB isoform http://purl.obolibrary.org/obo/HP_0032233 HP:0032234 biolink:PhenotypicFeature Increased circulating creatine kinase MM isoform An increased concentration of the MM isoform of creatine kinase in the blood circulation. hp.json Increased circulating CK MM isoform http://purl.obolibrary.org/obo/HP_0032234 HP:0032235 biolink:PhenotypicFeature Anti-La/SS-B antibody positivity The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. hp.json http://purl.obolibrary.org/obo/HP_0032235 HP:0032236 biolink:PhenotypicFeature Increased circulating immature neutrophil count An abnormally increased number of immature neutrophils in the peripheral blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032236 HP:0032230 biolink:PhenotypicFeature Cytoplasmic antineutrophil antibody positivity The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. hp.json Anti-neutrophil cytoplasmic antibody positivity http://purl.obolibrary.org/obo/HP_0032230 HP:0032231 biolink:PhenotypicFeature Hypochromia A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells. hp.json http://purl.obolibrary.org/obo/HP_0032231 CHEBI:25693 biolink:ChemicalSubstance organic heteromonocyclic compound hp.json organic heteromonocyclic compounds http://purl.obolibrary.org/obo/CHEBI_25693 3_STAR HP:0032232 biolink:PhenotypicFeature Increased circulating creatine kinase MB isoform An increased concentration of the MB isoform of creatine kinase in the blood circulation. hp.json Increased circulating CK MB isoform http://purl.obolibrary.org/obo/HP_0032232 UBERON:0012437 biolink:AnatomicalEntity epithelial-mesenchymal boundary An anatomical line that adjacent_to a epithelium and adjacent_to a mesenchyme. hp.json http://purl.obolibrary.org/obo/UBERON_0012437 CHEBI:62643 biolink:ChemicalSubstance anionic phospholipid Any organophosphate oxoanion that is a negatively charged phospholipid, e.g. phosphatidylserine(1-), phosphatidate(2-), phosphatidylglycerol(1-). hp.json anionic phospholipids|phospholipid anions|phospholipid anion http://purl.obolibrary.org/obo/CHEBI_62643 3_STAR HP:0032237 biolink:PhenotypicFeature Increased circulating myelocyte count An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1. hp.json http://purl.obolibrary.org/obo/HP_0032237 HP:0032238 biolink:PhenotypicFeature Increased circulating metamyelocyte count An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1. hp.json http://purl.obolibrary.org/obo/HP_0032238 HP:0032239 biolink:PhenotypicFeature Increased circulating band cell count An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2. hp.json Left shift|Increased circulating band form neutrophils http://purl.obolibrary.org/obo/HP_0032239 UBERON:0000464 biolink:AnatomicalEntity anatomical space Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. XAO:0003190|FMA:5897|UMLS:C0524461|HAO:0000005|NCIT:C94478|TAO:0001668|ZFA:0001643|VHOG:0001728|FBbt:00007017|EHDAA2:0003005|TGMA:0001825|BILA:0000005|CARO:0000005|AEO:0000005|AAO:0010110 hp.json anatomical spaces|lumen space|lumen|space http://purl.obolibrary.org/obo/UBERON_0000464 upper_level HP:0007266 biolink:PhenotypicFeature Cerebral dysmyelination Defective structure and function of myelin sheaths of the white matter of the brain. UMLS:C4020810|UMLS:C1854885 hp.json Areas of dysmyelination on MRI|Dysmyelination of the brain|White matter dysmyelination/demyelination http://purl.obolibrary.org/obo/HP_0007266 UBERON:0000465 biolink:AnatomicalEntity material anatomical entity Anatomical entity that has mass. VHOG:0001721|TAO:0001836|HAO:0000006|FMA:67165|EHDAA2:0003006|FBbt:00007016|BILA:0000006|TGMA:0001826|CARO:0000006|AEO:0000006|AAO:0010264 hp.json http://purl.obolibrary.org/obo/UBERON_0000465 upper_level HP:0007267 biolink:PhenotypicFeature Chronic axonal neuropathy An abnormality characterized by chronic impairment of the normal functioning of the axons. UMLS:C4021578 hp.json Chronic sural axonal neuropathy http://purl.obolibrary.org/obo/HP_0007267 HP:0007268 biolink:PhenotypicFeature Aprosencephaly MSH:D000757|SNOMEDCT_US:277922001|UMLS:C0431349 hp.json http://purl.obolibrary.org/obo/HP_0007268 UBERON:0000466 biolink:AnatomicalEntity immaterial anatomical entity Anatomical entity that has no mass. HAO:0000007|TAO:0001835|FMA:67112|EHDAA2:0003007|VHOG:0001727|TGMA:0001827|FBbt:00007015|BILA:0000007|CARO:0000007|AEO:0000007|AAO:0010265 hp.json immaterial physical anatomical entity http://purl.obolibrary.org/obo/UBERON_0000466 upper_level UBERON:0000467 biolink:AnatomicalEntity anatomical system Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function. EV:0100000|ZFA:0001439|EHDAA2:0003011|EHDAA:392|BILA:0000011|TGMA:0001831|WBbt:0005763|galen:AnatomicalSystem|TAO:0001439|BIRNLEX:14|FBbt:00004856|CARO:0000011|AEO:0000011|SCTID:278195005|Wikipedia:Organ_system|OpenCyc:Mx4rCWM0QCtDEdyAAADggVbxzQ|EMAPA:16103|FMA:7149|MA:0000003|HAO:0000011|CALOHA:TS-2088|AAO:0000007|XAO:0003002|BSA:0000049|UMLS:C0460002|VHOG:0001725|NCIT:C12919|WBbt:0005746 hp.json system|anatomical systems|connected anatomical system|organ system|body system http://purl.obolibrary.org/obo/UBERON_0000467 uberon_slim|upper_level|pheno_slim HP:0007269 biolink:PhenotypicFeature Spinal muscular atrophy Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. MSH:D009134|UMLS:C0026847|SNOMEDCT_US:5262007 hp.json Spinal muscle wasting|Spinal muscle degeneration http://purl.obolibrary.org/obo/HP_0007269 HP:0007262 biolink:PhenotypicFeature Symmetric peripheral demyelination A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. UMLS:C4024914 hp.json http://purl.obolibrary.org/obo/HP_0007262 HP:0007263 biolink:PhenotypicFeature Spinocerebellar atrophy Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. MSH:D020754|SNOMEDCT_US:129609000|UMLS:C0087012 hp.json http://purl.obolibrary.org/obo/HP_0007263 HP:0007265 biolink:PhenotypicFeature Absent mesencephalon Agenesis of the midbrain. UMLS:C4024913 hp.json http://purl.obolibrary.org/obo/HP_0007265 UBERON:0000463 biolink:AnatomicalEntity organism substance Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. AAO:0010839|HAO:0000004|FMA:9669|EMAPA:35178|galen:BodySubstance|CALOHA:TS-2101|ZFA:0001487|FBbt:00007019|TAO:0001487|VHOG:0001726|NCIT:C13236|XAO:0004001|EHDAA2:0003004|MA:0002450|BILA:0000004|TGMA:0001824|SPD:0000008|AEO:0000004|CARO:0000004 hp.json body substance|portion of body substance|body fluid or substance|organism substance|portion of organism substance http://purl.obolibrary.org/obo/UBERON_0000463 upper_level|pheno_slim HP:0007280 biolink:PhenotypicFeature Acute infantile spinal muscular atrophy UMLS:C4024911 hp.json http://purl.obolibrary.org/obo/HP_0007280 HP:0007281 biolink:PhenotypicFeature Developmental stagnation A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. UMLS:C1848980 hp.json Developmental arrest http://purl.obolibrary.org/obo/HP_0007281 CHEBI:23045 biolink:ChemicalSubstance carotenol hp.json http://purl.obolibrary.org/obo/CHEBI_23045 GO:0001700 biolink:BiologicalProcess embryonic development via the syncytial blastoderm The process whose specific outcome is the progression of the embryo over time, from zygote formation through syncytial blastoderm to the hatching of the first instar larva. An example of this process is found in Drosophila melanogaster. hp.json http://purl.obolibrary.org/obo/GO_0001700 UBERON:0000446 biolink:AnatomicalEntity septum of telencephalon Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996). BAMS:Sep|BAMS:SEP|BIRNLEX:963|UMLS:C0752060|BM:Tel-Spt|MA:0000924|BAMS:SA|BAMS:Spt|BTO:0002705|EMAPA:32837|FMA:61842|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=255 hp.json area septalis|septum (NN)|septum pellucidum (BNA,PNA)|septal region|massa praecommissuralis|septal area|septum telencephali|septum|telencephalon septum|Se http://purl.obolibrary.org/obo/UBERON_0000446 pheno_slim CHEBI:50646 biolink:ChemicalSubstance bone density conservation agent An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat bone diseases such as osteopenia and osteoporosis. Wikipedia:Osteoporosis hp.json anti-osteoporotics|bone density conservation drug|anti-osteoporosis drug|anti-osteopenia drug|bone density conservation agents|anti-osteoporotic drug|anti-osteoporosis agents|anti-osteopenia agents|anti-osteoporotic agents|antiosteoporotic|antiosteoporotics|anti-osteoporotic agent|anti-osteopenia agent|anti-osteoporosis agent|anti-osteoporotic drugs|anti-osteopenia drugs|anti-osteoporosis drugs|bone density conservation drugs|anti-osteoporotic http://purl.obolibrary.org/obo/CHEBI_50646 3_STAR HP:0032244 biolink:PhenotypicFeature Decreased serum thromboxane B2 A reduction in the concentration of thromboxane B2 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032244 UBERON:0012430 biolink:AnatomicalEntity tunica fibrosa of eyeball The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. FMA:58102|SCTID:361318005|Wikipedia:Fibrous_tunic_of_eyeball hp.json corneosclera|fibrous tunic|corneosclera|fibrous layer of eyeball|fibrous tunic|tunica fibrosa http://purl.obolibrary.org/obo/UBERON_0012430 HP:0032245 biolink:PhenotypicFeature Abnormal metabolism An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. hp.json http://purl.obolibrary.org/obo/HP_0032245 UBERON:0036422 biolink:AnatomicalEntity wall of pulmonary artery FMA:18211 hp.json pulmonary arterial wall http://purl.obolibrary.org/obo/UBERON_0036422 HP:0032247 biolink:PhenotypicFeature Persistent CMV viremia Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032247 HP:0032240 biolink:PhenotypicFeature Elevated circulating E selectin level An increased concentration of E selectin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032240 HP:0032241 biolink:PhenotypicFeature Cervical neoplasm A tumor (abnormal growth of tissue) of the uterine cervix. hp.json http://purl.obolibrary.org/obo/HP_0032241 CHEBI:23044 biolink:ChemicalSubstance carotenoid hp.json http://purl.obolibrary.org/obo/CHEBI_23044 HP:0032242 biolink:PhenotypicFeature Cervical intraepithelial neoplasia A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer. hp.json http://purl.obolibrary.org/obo/HP_0032242 HP:0032243 biolink:PhenotypicFeature Abnormal tissue metabolite concentration Any deviation from the normal concentration of a metabolite in a tissue. hp.json http://purl.obolibrary.org/obo/HP_0032243 UBERON:0012425 biolink:AnatomicalEntity striated border microvillus layer A microvillus layer that is striated and found in the intestine. FMA:70978|NCIT:C33634 hp.json striated border http://purl.obolibrary.org/obo/UBERON_0012425 HP:0032248 biolink:PhenotypicFeature Persistent viremia Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host. hp.json http://purl.obolibrary.org/obo/HP_0032248 HP:0032249 biolink:PhenotypicFeature Coccidioidomycosis Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii. hp.json Valley fever http://purl.obolibrary.org/obo/HP_0032249 UBERON:0012429 biolink:AnatomicalEntity hematopoietic tissue Blood-forming tissue, consisting of reticular fibers and cells. UMLS:C0229619|CALOHA:TS-2142|FMA:14073|NCIT:C13051 hp.json hemopoietic tissue|haemopoietic tissue|hematopoietic tissue|bone marrow tissue|textus haemopoieticus http://purl.obolibrary.org/obo/UBERON_0012429 HP:0007277 biolink:PhenotypicFeature Paucity of anterior horn motor neurons UMLS:C2673351 hp.json http://purl.obolibrary.org/obo/HP_0007277 GO:0001705 biolink:BiologicalProcess ectoderm formation The formation of ectoderm during gastrulation. hp.json http://purl.obolibrary.org/obo/GO_0001705 UBERON:0000454 biolink:AnatomicalEntity cerebral subcortex The layer located below the cerebral cortex that includes the forebrain, midbrain and hindbrain. FMA:242188|NCIT:C98712|UMLS:C0815008|BTO:0002858 hp.json subcortex|cerebral medulla http://purl.obolibrary.org/obo/UBERON_0000454 pheno_slim GO:0001706 biolink:BiologicalProcess endoderm formation The formation of the endoderm during gastrulation. hp.json endoblast formation http://purl.obolibrary.org/obo/GO_0001706 GO:0001707 biolink:BiologicalProcess mesoderm formation The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. hp.json http://purl.obolibrary.org/obo/GO_0001707 UBERON:0000456 biolink:AnatomicalEntity secretion of exocrine gland A portion of organism substance that is produced by exocrine glands. AEO:0001005|EMAPA:36535|NCIT:C34062|MA:0002504|UMLS:C1516992|MESH:D012634|BTO:0002979|FMA:9675|BTO:0002977|galen:Secretion hp.json external secretion|exocrine gland fluid or secretion|secretion|secreted substance|exocrine gland fluid|bodily secretion|exocrine gland fluid/secretion|exocrine gland secretion http://purl.obolibrary.org/obo/UBERON_0000456 CHEBI:37684 biolink:ChemicalSubstance mannose An aldohexose that is the C-2 epimer of glucose. PMID:16180318|PMID:24407290 hp.json mannose|Man|manno-hexose http://purl.obolibrary.org/obo/CHEBI_37684 3_STAR GO:0001701 biolink:BiologicalProcess in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. hp.json http://purl.obolibrary.org/obo/GO_0001701 HP:0007274 biolink:PhenotypicFeature Recurrent bacterial meningitis An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. UMLS:C1845604 hp.json http://purl.obolibrary.org/obo/HP_0007274 GO:0001704 biolink:BiologicalProcess formation of primary germ layer The formation of the ectoderm, mesoderm and endoderm during gastrulation. hp.json http://purl.obolibrary.org/obo/GO_0001704 UBERON:0000439 biolink:AnatomicalEntity arachnoid trabecula The arachnoid trabeculae are delicate strands of connective tissue that loosely connect the two innermost layers of the meninges -- the arachnoid mater and the pia mater. They are found within the subarachnoid space where cerebrospinal fluid is also found. Embryologically, the trabeculae are the remnants of the common precursor that forms both the arachnoid and pial layers of the meninges. BTO:0002500|FMA:83979 hp.json trabecula arachnoideum|arachnoid trabeculae http://purl.obolibrary.org/obo/UBERON_0000439 CHEBI:23014 biolink:ChemicalSubstance carbon oxide hp.json carbon oxides|oxides of carbon http://purl.obolibrary.org/obo/CHEBI_23014 3_STAR CHEBI:25676 biolink:ChemicalSubstance oligopeptide A peptide containing a relatively small number of amino acids. Wikipedia:Oligopeptide hp.json Oligopeptid|oligopeptides|oligopeptido http://purl.obolibrary.org/obo/CHEBI_25676 3_STAR HP:0032250 biolink:PhenotypicFeature Acinetobacter infection An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay. hp.json http://purl.obolibrary.org/obo/HP_0032250 HP:0007250 biolink:PhenotypicFeature Recurrent external ophthalmoplegia Alternating and recurrent weakness of the external ocular muscles. UMLS:C4024915 hp.json http://purl.obolibrary.org/obo/HP_0007250 CHEBI:23019 biolink:ChemicalSubstance carbonyl group hp.json >C=O|carbonyl group|carbonyl group|carbonyl http://purl.obolibrary.org/obo/CHEBI_23019 3_STAR HP:0032255 biolink:PhenotypicFeature Opportunistic fungal infection An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system. hp.json http://purl.obolibrary.org/obo/HP_0032255 HP:0032256 biolink:PhenotypicFeature Histoplasmosis Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons. hp.json http://purl.obolibrary.org/obo/HP_0032256 HP:0032257 biolink:PhenotypicFeature Disseminated histoplasmosis Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS. hp.json http://purl.obolibrary.org/obo/HP_0032257 HP:0032258 biolink:PhenotypicFeature Pulmonary histoplasmosis Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum. hp.json http://purl.obolibrary.org/obo/HP_0032258 HP:0032251 biolink:PhenotypicFeature Abnormal immune system morphology hp.json http://purl.obolibrary.org/obo/HP_0032251 UBERON:0012423 biolink:AnatomicalEntity layer of microvilli A layer of microvilli, Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments[GO,modified]. NCIT:C33112|UMLS:C0026049|MESH:D008871|FMA:67296 hp.json microvilli|microvillus http://purl.obolibrary.org/obo/UBERON_0012423 HP:0032252 biolink:PhenotypicFeature Granuloma A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. hp.json http://purl.obolibrary.org/obo/HP_0032252 HP:0032253 biolink:PhenotypicFeature Eosinophilic granuloma A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris. hp.json http://purl.obolibrary.org/obo/HP_0032253 HP:0032254 biolink:PhenotypicFeature Increased circulating copper concentration An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration. hp.json Elevated serum copper|Hypercupremia http://purl.obolibrary.org/obo/HP_0032254 UBERON:0012416 biolink:AnatomicalEntity respiratory system arterial smooth muscle EMAPA:37567|MA:0001802 hp.json http://purl.obolibrary.org/obo/UBERON_0012416 human_reference_atlas CHEBI:60004 biolink:ChemicalSubstance mixture A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind. hp.json Mischung http://purl.obolibrary.org/obo/CHEBI_60004 3_STAR HP:0032259 biolink:PhenotypicFeature Chronic tinea infection The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect. hp.json http://purl.obolibrary.org/obo/HP_0032259 HP:0007249 biolink:PhenotypicFeature Decreased number of small peripheral myelinated nerve fibers UMLS:C4024916 hp.json Decreased number of small peripheral myelinated nerve fibres http://purl.obolibrary.org/obo/HP_0007249 UBERON:0012418 biolink:AnatomicalEntity respiratory system venous smooth muscle A smooth muscle tissue that is part of a respiratory system venous blood vessel. EMAPA:37586|MA:0001812 hp.json http://purl.obolibrary.org/obo/UBERON_0012418 human_reference_atlas UBERON:0000442 biolink:AnatomicalEntity right testicular vein A vein that drains the left pampiniform plexus and empties into the left renal vein. MA:0002220|EMAPA:37383|NCIT:C52697|FMA:14341|BTO:0002679 hp.json vena testicularis dextra|vena testicularis sinistra|right spermatic vein|vena testicularis (adrenalis) dextra http://purl.obolibrary.org/obo/UBERON_0000442 human_reference_atlas HP:0020222 biolink:PhenotypicFeature Hypohomocysteinemia A decreased concentration of homocystine in the blood. hp.json http://purl.obolibrary.org/obo/HP_0020222 UBERON:0000443 biolink:AnatomicalEntity left testicular vein A vein that drains the right pampiniform plexus and empties into the inferior vena cava. EMAPA:37167|MA:0002219|FMA:14345|BTO:0002680|NCIT:C52696 hp.json vena testicularis dextra|vena testicularis sinistra|left spermatic vein http://purl.obolibrary.org/obo/UBERON_0000443 human_reference_atlas HP:0020221 biolink:PhenotypicFeature Clonic seizure A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. hp.json http://purl.obolibrary.org/obo/HP_0020221 UBERON:0000444 biolink:AnatomicalEntity lymphoid follicle BTO:0002684|NCIT:C33040|FMA:55222|UMLS:C0229654 hp.json nodulus lymphaticus|folliculus lymphaticus|lymphoid nodule|nodulus lymphoideus|lymphatic follicle|lymphatic nodule|nodular lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0000444 HP:0020223 biolink:PhenotypicFeature Dermal sinus tract A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region. hp.json http://purl.obolibrary.org/obo/HP_0020223 HP:0007240 biolink:PhenotypicFeature Progressive gait ataxia A type of gait ataxia displaying progression of clinical severity. UMLS:C1843885 hp.json Gait ataxia, progressive http://purl.obolibrary.org/obo/HP_0007240 HP:0020220 biolink:PhenotypicFeature Focal atonic seizure A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature. hp.json Segmental atonic seizure|Partial hypotonic seizure|Segmental hypotonic seizure|Partial atonic seizure|Localized hypotonic seizure|Localised atonic seizure|Localized atonic seizure|Localised hypotonic seizure http://purl.obolibrary.org/obo/HP_0020220 UBERON:0000440 biolink:AnatomicalEntity trabecula A small, often microscopic, tissue element in the form of a small beam, strut or rod, generally having a mechanical function, and usually but not necessarily composed of dense collagenous tissue. On histological section, a trabecula can look like a septum, but in three dimensions they are topologically distinct, with trabeculae being roughly rod or pillar-shaped and septa being sheet-like. Trabeculae are usually composed of dense fibrous tissue, i.e. mainly of collagen, and in most cases provide mechanical strengthening or stiffening to a soft solid organ, such as the spleen. They can be composed of other materials, such as bone or muscle[WP]. BTO:0002501|FMA:85273 hp.json trabeculae http://purl.obolibrary.org/obo/UBERON_0000440 grouping_class|pheno_slim HP:0020219 biolink:PhenotypicFeature Motor seizure A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. hp.json http://purl.obolibrary.org/obo/HP_0020219 UBERON:0000428 biolink:AnatomicalEntity prostate epithelium The prostate epithelium. CALOHA:TS-2065|NCIT:C13103|FMA:66812|EMAPA:35711|MA:0001737|FMA:79643|UMLS:C1179826|BTO:0002397 hp.json prostate epithelial tissue|prostatic gland epithelium|epithelium of prostatic gland|epithelial tissue of prostate gland|epithelial tissue of prostate|epithelium of prostate gland|prostatic epithelium|epithelium of prostate|prostate gland epithelium|prostate gland epithelial tissue http://purl.obolibrary.org/obo/UBERON_0000428 pheno_slim|human_reference_atlas UBERON:0000429 biolink:AnatomicalEntity enteric plexus A plexus of autonomic nerve fibers within the wall of the digestive tube, and made up of the submucosal, myenteric, and subserosal plexuses; it contains visceral afferent fibers, sympathetic postganglionic fibers, parasympathetic preganglionic and postganglionic fibers, and parasympathetic postganglionic cell bodies. MA:0001147|BTO:0002437|EMAPA:35446|FMA:77597 hp.json enteric nerve plexus|sympathetic enteric nerve plexus|plexus entericus|plexus nervosus entericus|intrinsic nerve plexus http://purl.obolibrary.org/obo/UBERON_0000429 HP:0020218 biolink:PhenotypicFeature Focal aware atonic seizure A type of focal atonic seizure during which awareness is fully retained throughout. hp.json http://purl.obolibrary.org/obo/HP_0020218 HP:0007260 biolink:PhenotypicFeature Type II lissencephaly A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. MSH:D054222|UMLS:C0431376|SNOMEDCT_US:253149002 hp.json Lissencephaly type II|Cobblestone lissencephaly|Type 2 lissencephaly http://purl.obolibrary.org/obo/HP_0007260 HP:0032260 biolink:PhenotypicFeature Opportunistic bacterial infection An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system. hp.json http://purl.obolibrary.org/obo/HP_0032260 HP:0032261 biolink:PhenotypicFeature Nontuberculous mycobacterial pulmonary infection An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. hp.json http://purl.obolibrary.org/obo/HP_0032261 CHEBI:49637 biolink:ChemicalSubstance hydrogen atom WebElements:H hp.json H|1H|Wasserstoff|hydrogene|hydrogen|hydrogen|hidrogeno http://purl.obolibrary.org/obo/CHEBI_49637 3_STAR HP:0020215 biolink:PhenotypicFeature Thinking-induced seizure Seizures induced by thinking and decision-making. comment: hp.json Cognition induced seizure http://purl.obolibrary.org/obo/HP_0020215 HP:0020214 biolink:PhenotypicFeature Startle-induced seizure Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus. hp.json http://purl.obolibrary.org/obo/HP_0020214 HP:0020217 biolink:PhenotypicFeature Focal aware motor seizure A type of focal motor seizure in which awareness is retained throughout the seizure. hp.json Focal motor aware seizure http://purl.obolibrary.org/obo/HP_0020217 HP:0020216 biolink:PhenotypicFeature Visually-induced seizure Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. hp.json Photosensitive seizure http://purl.obolibrary.org/obo/HP_0020216 HP:0032266 biolink:PhenotypicFeature CSF anti-NMDA receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. hp.json Presence of NMDAR antibody in CSF|Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF|Presence of anti-NMDAR antibody in cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0032266 HP:0010896 biolink:PhenotypicFeature Hypersarcosinemia An elevated plasma concentration of sarcosine. SNOMEDCT_US:64852002|MSH:C537236|UMLS:C0268563 hp.json High plasma sarcosine levels http://purl.obolibrary.org/obo/HP_0010896 HP:0010895 biolink:PhenotypicFeature Abnormal circulating glycine concentration Any deviation from the normal concentration of glycine in the blood circulation. UMLS:C4023670 hp.json http://purl.obolibrary.org/obo/HP_0010895 UBERON:0036441 biolink:AnatomicalEntity wall of uterine tube FMA:18303 hp.json wall of fallopian tube|uterine tube wall|wall of oviduct http://purl.obolibrary.org/obo/UBERON_0036441 HP:0032267 biolink:PhenotypicFeature Empty delta sign This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases. hp.json http://purl.obolibrary.org/obo/HP_0032267 HP:0032268 biolink:PhenotypicFeature Dural tail sign This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor. hp.json http://purl.obolibrary.org/obo/HP_0032268 HP:0010894 biolink:PhenotypicFeature Abnormal circulating serine family amino acid concentration Any deviation from the normal concentration of a serine family amino acid in the blood circulation. UMLS:C4023671 hp.json Abnormality of serine family amino acid metabolism http://purl.obolibrary.org/obo/HP_0010894 HP:0032269 biolink:PhenotypicFeature Lemon sign The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles. hp.json http://purl.obolibrary.org/obo/HP_0032269 HP:0010893 biolink:PhenotypicFeature Abnormal circulating phenylalanine concentration Any deviation from the normal concentration of phenylalanine in the blood circulation. UMLS:C4023672 hp.json Abnormality of phenylalanine metabolism http://purl.obolibrary.org/obo/HP_0010893 HP:0032262 biolink:PhenotypicFeature Pulmonary tuberculosis A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria. hp.json Pulmonary TB http://purl.obolibrary.org/obo/HP_0032262 HP:0010892 biolink:PhenotypicFeature Abnormal circulating branched chain amino acid concentration Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. UMLS:C4023673 hp.json http://purl.obolibrary.org/obo/HP_0010892 HP:0010891 biolink:PhenotypicFeature Morbus Scheuermann A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays). MSH:D012544|SNOMEDCT_US:53406005|UMLS:C0036310 hp.json Sherman's Disease|Scheuermann kyphosis|Calve disease|Scheuermann disease|Juvenile osteochondrosis of the spine http://purl.obolibrary.org/obo/HP_0010891 HP:0032263 biolink:PhenotypicFeature Increased blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. hp.json Increased BP http://purl.obolibrary.org/obo/HP_0032263 HP:0032264 biolink:PhenotypicFeature Anti-NMDA receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. hp.json Presence of anti-NMDAR antibody in blood|Presence of anti-N-methyl-D-aspartate Receptor antibody in blood http://purl.obolibrary.org/obo/HP_0032264 HP:0010890 biolink:PhenotypicFeature Morbus Osgood-Schlatter Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae. MSH:D055034|SNOMEDCT_US:79353000|SNOMEDCT_US:72047008|UMLS:C0029376 hp.json Osgood Schlatter disease http://purl.obolibrary.org/obo/HP_0010890 HP:0032265 biolink:PhenotypicFeature CSF autoimmune antibody positivity The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues. hp.json Cerebrospinal fluid autoimmune antibody positivity http://purl.obolibrary.org/obo/HP_0032265 HP:0010899 biolink:PhenotypicFeature Abnormal circulating aspartate family amino acid concentration Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation. UMLS:C4023667 hp.json http://purl.obolibrary.org/obo/HP_0010899 HP:0010898 biolink:PhenotypicFeature Abnormal circulating sarcosine concentration An deviation from the normal concentration of sarcosine in the blood circulation. UMLS:C4023668 hp.json http://purl.obolibrary.org/obo/HP_0010898 HP:0010897 biolink:PhenotypicFeature Hypersarcosinuria An elevated urinary concentration of sarcosine. UMLS:C4023669 hp.json High urine sarcosine levels http://purl.obolibrary.org/obo/HP_0010897 HP:0020211 biolink:PhenotypicFeature Proprioceptive-induced seizure A seizure precipitated by movement or a change in posture. hp.json http://purl.obolibrary.org/obo/HP_0020211 HP:0020210 biolink:PhenotypicFeature Praxis-induced seizure A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making. hp.json http://purl.obolibrary.org/obo/HP_0020210 HP:0007256 biolink:PhenotypicFeature Abnormal pyramidal sign Functional neurological abnormalities related to dysfunction of the pyramidal tract. UMLS:C0234132|SNOMEDCT_US:14648003 hp.json Pyramidal tract signs|Pyramidal signs|Corticospinal signs http://purl.obolibrary.org/obo/HP_0007256 HP:0020213 biolink:PhenotypicFeature Somatosensory-induced seizure A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise. hp.json http://purl.obolibrary.org/obo/HP_0020213 HP:0020212 biolink:PhenotypicFeature Reading-induced seizure A seizure precipitated by reading. hp.json http://purl.obolibrary.org/obo/HP_0020212 HP:0007258 biolink:PhenotypicFeature Severe demyelination of the white matter A severe loss of myelin from nerve fibers in the central nervous system. UMLS:C1856001 hp.json http://purl.obolibrary.org/obo/HP_0007258 CHEBI:37661 biolink:ChemicalSubstance glucopyranose hp.json glucopyranose http://purl.obolibrary.org/obo/CHEBI_37661 3_STAR UBERON:0012482 biolink:AnatomicalEntity submucosa of cloaca A submucosa that is part of a cloaca [Automatically generated definition]. hp.json cloaca submucosa|cloacal submucosa http://purl.obolibrary.org/obo/UBERON_0012482 UBERON:0012481 biolink:AnatomicalEntity cloacal epithelium An epithelium that is part of a cloaca. ZFA:0005783|EMAPA:36070|EMAPA:27577 hp.json cloacal endoderm http://purl.obolibrary.org/obo/UBERON_0012481 UBERON:0012480 biolink:AnatomicalEntity cloacal mucosa A mucosa that is part of a cloaca [Automatically generated definition]. hp.json cloaca mucous membrane|cloaca mucosa|cloaca organ mucosa|mucosa of organ of cloaca|cloacal mucous membrane|mucosa of cloaca|organ mucosa of cloaca|mucous membrane of cloaca|cloaca mucosa of organ http://purl.obolibrary.org/obo/UBERON_0012480 UBERON:0012486 biolink:AnatomicalEntity muscle layer of cloaca A muscular coat that is part of a cloaca. hp.json smooth muscle of cloaca|muscularis externa of cloaca http://purl.obolibrary.org/obo/UBERON_0012486 UBERON:0012485 biolink:AnatomicalEntity cloacal villus hp.json cloacal villi http://purl.obolibrary.org/obo/UBERON_0012485 UBERON:0012483 biolink:AnatomicalEntity serosa of cloaca A serous membrane that is part of a cloaca [Automatically generated definition]. hp.json cloaca serous membrane|visceral peritoneum of cloaca|cloacal serosa|serous membrane of cloaca|cloaca serosa http://purl.obolibrary.org/obo/UBERON_0012483 UBERON:0012489 biolink:AnatomicalEntity muscle layer of colon A muscular coat that is part of a colon. EMAPA:27383|MA:0003198|FMA:14986|SCTID:362158003 hp.json colon muscularis|tunica muscularis coli|muscularis externa of colon|colonic muscularis propria|muscular coat of colon|muscular layer of colon http://purl.obolibrary.org/obo/UBERON_0012489 human_reference_atlas UBERON:0012488 biolink:AnatomicalEntity muscle layer of duodenum A muscular coat that is part of a duodenum. FMA:14944 hp.json muscularis externa of duodenum|smooth muscle of duodenum|muscularis propria of duodenum|duodenal muscularis propria http://purl.obolibrary.org/obo/UBERON_0012488 UBERON:0012487 biolink:AnatomicalEntity vaginal sphincter A sphincter muscle that is part of a vagina. hp.json sphincter of vagina http://purl.obolibrary.org/obo/UBERON_0012487 CHEBI:60027 biolink:ChemicalSubstance polymer A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. Wikipedia:Polymer hp.json Kunststoff|Polymer http://purl.obolibrary.org/obo/CHEBI_60027 3_STAR CHEBI:37631 biolink:ChemicalSubstance beta-L-glucose A L-glucopyranose with a beta-configuration at the anomeric position. Reaxys:1907373|Beilstein:1907373|GlyTouCan:G59396XU|GlyGen:G59396XU hp.json WURCS=2.0/1,1,0/[a1211h-1b_1-5]/1/|beta-L-glucopyranose http://purl.obolibrary.org/obo/CHEBI_37631 3_STAR CHEBI:23004 biolink:ChemicalSubstance carbamoyl group The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid. PMID:24168430 hp.json carboxamide|-CONH2|aminocarbonyl|carbamyl|carbamyl group|-C(O)NH2|carbamoyl http://purl.obolibrary.org/obo/CHEBI_23004 3_STAR UBERON:0012475 biolink:AnatomicalEntity skeleton of pectoral complex The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. FMA:24139 hp.json bones of upper limb|pectoral complex skeleton|ossa membri superioris|skeleton of anterior limb/fin and girdle|upper limb skeleton|set of bones of upper limb http://purl.obolibrary.org/obo/UBERON_0012475 pheno_slim HP:0032200 biolink:PhenotypicFeature Perivascular fibrosis The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern. hp.json http://purl.obolibrary.org/obo/HP_0032200 HP:0032201 biolink:PhenotypicFeature Rotator cuff tear The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus. hp.json http://purl.obolibrary.org/obo/HP_0032201 HP:0032202 biolink:PhenotypicFeature Vulvar intraepithelial neoplasia Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. hp.json http://purl.obolibrary.org/obo/HP_0032202 HP:0032203 biolink:PhenotypicFeature Lymphoid nodular hyperplasia Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236). hp.json Lymphonodular hyperplasia of the colon http://purl.obolibrary.org/obo/HP_0032203 UBERON:0012478 biolink:AnatomicalEntity cloacal gland A gland that is part of a cloaca. hp.json http://purl.obolibrary.org/obo/UBERON_0012478 UBERON:0012477 biolink:AnatomicalEntity dorsal part of neck The posterior region of the neck, including the suboccipital region. FMA:24189|BTO:0000957 hp.json back of neck|nape|hindneck|nape of neck|regio cervicalis posterior|nuchal region|posterior part of neck|posterior cervical region|neck back|nucha|posterior neck region http://purl.obolibrary.org/obo/UBERON_0012477 pheno_slim UBERON:0012476 biolink:AnatomicalEntity skeleton of pelvic complex The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. FMA:24140 hp.json pelvic complex skeleton|set of bones of lower limb|skeleton of posterior limb/fin and girdle|lower limb skeleton|bones of lower limb|pelvic complex skeleton|ossa membri inferioris|skeleton of posterior limb/fin and girdle http://purl.obolibrary.org/obo/UBERON_0012476 pheno_slim HP:0032208 biolink:PhenotypicFeature Increased urinary type 1 collagen N-terminal telopeptide level An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. hp.json Increased urine NTx level|Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine http://purl.obolibrary.org/obo/HP_0032208 UBERON:0000490 biolink:AnatomicalEntity unilaminar epithelium Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]. BTO:0002073|CARO:0000073|AEO:0000073|NCIT:C33554|ZFA:0001495|UMLS:C0682574|HAO:0000073|TAO:0001495|SCTID:309043004|AAO:0010062|EHDAA2:0003073|XAO:0004007|FMA:45561|BILA:0000073 hp.json simple epithelium|unilaminar epithelia http://purl.obolibrary.org/obo/UBERON_0000490 vertebrate_core HP:0032209 biolink:PhenotypicFeature Abnormal circulating free T3 concentration A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. hp.json Abnormal circulating free triiodotyronine concentration|Abnormal circulating free T3 level http://purl.obolibrary.org/obo/HP_0032209 UBERON:0012469 biolink:AnatomicalEntity external anal region EHDAA2:0004589 hp.json http://purl.obolibrary.org/obo/UBERON_0012469 HP:0032204 biolink:PhenotypicFeature Chronic active Epstein-Barr virus infection Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed. hp.json http://purl.obolibrary.org/obo/HP_0032204 CHEBI:60039 biolink:ChemicalSubstance L-proline zwitterion The zwitterion formed from L-proline by proton transfer from the carboxy group to the ring nitrogen. It is the predominant species at physiological pH. MetaCyc:PRO hp.json L-proline|(2S)-pyrrolidinium-2-carboxylate http://purl.obolibrary.org/obo/CHEBI_60039 3_STAR HP:0032205 biolink:PhenotypicFeature Increased circulating galectin-3 level An increased circulation of galectin-3 in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032205 HP:0032207 biolink:PhenotypicFeature obsolete Abnormal cerebrospinal fluid metabolite concentration hp.json http://purl.obolibrary.org/obo/HP_0032207 HP:0007291 biolink:PhenotypicFeature Posterior fossa cyst A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. UMLS:C1857353 hp.json http://purl.obolibrary.org/obo/HP_0007291 HP:0007293 biolink:PhenotypicFeature Anterior sacral meningocele UMLS:C1867776 hp.json http://purl.obolibrary.org/obo/HP_0007293 UBERON:0000479 biolink:AnatomicalEntity tissue Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. XAO:0003040|AAO:0010054|galen:Tissue|TGMA:0001844|EHDAA2:0003043|CALOHA:TS-2090|AAO:0000607|BILA:0000043|FMA:9637|CARO:0000043|AEO:0000043|NCIT:C12801|ZFA:0001477|WBbt:0005729|TAO:0001477|HAO:0000043|MA:0003002|EMAPA:35868|VHOG:0001757|FBbt:00007003|BIRNLEX:19|MESH:D014024|UMLS:C0040300 hp.json portion of tissue|tissue portion|simple tissue http://purl.obolibrary.org/obo/UBERON_0000479 upper_level|pheno_slim UBERON:0012464 biolink:AnatomicalEntity cloacal vent The opening of the cloacal chamber to the outside of the organism. Birds maintain a single cloacal opening throughout their lives. hp.json vent|cloacal opening|cloacal orifice http://purl.obolibrary.org/obo/UBERON_0012464 HP:0032211 biolink:PhenotypicFeature Increased urinary epithelial cell count An increased number of epithelial cells per high-power field in urinanalysis. hp.json http://purl.obolibrary.org/obo/HP_0032211 HP:0032212 biolink:PhenotypicFeature Increased urinary squamous epithelial cell count An increased number of squamous epithelial cells per high-power field in urinanalysis. hp.json http://purl.obolibrary.org/obo/HP_0032212 UBERON:0012463 biolink:AnatomicalEntity cloacal lumen An anatomical space that is enclosed by a cloaca. ZFA:0000330|TAO:0000330 hp.json cloaca lumen|cloacal chamber http://purl.obolibrary.org/obo/UBERON_0012463 HP:0032213 biolink:PhenotypicFeature Increased urinary renal tubular epithelial cell count An increased number of renal tubular epithelial cells per high-power field in urinanalysis. hp.json http://purl.obolibrary.org/obo/HP_0032213 HP:0032214 biolink:PhenotypicFeature Increased urinary transitional epithelial cell count An increased number of transitional epithelial cells per high-power field in urinanalysis. hp.json http://purl.obolibrary.org/obo/HP_0032214 UBERON:0012468 biolink:AnatomicalEntity anal tooth Triangular calcified papillae (often five) placed radially around the anus of some Holothuriidae. hp.json calcified anal papilla|perianal tooth|anal teeth|cloacal tooth http://purl.obolibrary.org/obo/UBERON_0012468 UBERON:0012467 biolink:AnatomicalEntity enclosed anatomical space An anatomical space with no opening to another space or to the exterior. AEO:0000222 hp.json closed anatomical space http://purl.obolibrary.org/obo/UBERON_0012467 UBERON:0012466 biolink:AnatomicalEntity extraembryonic cavity EMAPA:16054|VHOG:0000767|EHDAA2:0000472 hp.json extraembryonic cavities http://purl.obolibrary.org/obo/UBERON_0012466 UBERON:0012465 biolink:AnatomicalEntity lumen of terminal part of digestive tract An anatomical space that is enclosed by a terminal part of digestive tract. hp.json http://purl.obolibrary.org/obo/UBERON_0012465 HP:0032210 biolink:PhenotypicFeature Decreased circulating free T3 A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. hp.json Decreased circulating free triiodothyronine http://purl.obolibrary.org/obo/HP_0032210 HP:0032219 biolink:PhenotypicFeature Increased proportion of CD4-positive T cells An elevation in the proportion of CD4-positive T cells relative to the total number of T cells. hp.json Elevated proportion of CD4-positive T cells|Increased proportion of CD4+ T cells|Increased proportion of CD4-positive, alpha-beta T cells http://purl.obolibrary.org/obo/HP_0032219 CL:1000311 biolink:Cell adipocyte of epicardial fat of left ventricle A fat cell that is part of the epicardial fat of left ventricle. FMA:261300 hp.json epicardial fat cell of left ventricle|epicardial adipocyte of left ventricle http://purl.obolibrary.org/obo/CL_1000311 CL:1000310 biolink:Cell adipocyte of epicardial fat of right ventricle A fat cell that is part of the epicardial fat of right ventricle. FMA:261297 hp.json epicardial adipocyte of right ventricle|epicardial fat cell of right ventricle http://purl.obolibrary.org/obo/CL_1000310 UBERON:0000481 biolink:AnatomicalEntity multi-tissue structure Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. ZFA:0001488|XAO:0003037|HAO:0000055|TAO:0001488|AAO:0010048|TGMA:0001847|EHDAA2:0003055|FBbt:00007010|VHOG:0001762|BILA:0000055|CARO:0000055|AEO:0000055 hp.json multi-tissue structures http://purl.obolibrary.org/obo/UBERON_0000481 upper_level HP:0032215 biolink:PhenotypicFeature Disseminated cutaneous warts Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. hp.json http://purl.obolibrary.org/obo/HP_0032215 HP:0032216 biolink:PhenotypicFeature Lymphocytic infiltration of the colorectal mucosa Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. hp.json http://purl.obolibrary.org/obo/HP_0032216 HP:0032217 biolink:PhenotypicFeature Indurated nodule A skin nodule that is unusually hard (indurated). hp.json http://purl.obolibrary.org/obo/HP_0032217 HP:0032218 biolink:PhenotypicFeature Decreased proportion of CD4-positive T cells A reduction in the proportion of CD4-positive T cells relative to the total number of T cells. hp.json Decreased proportion of CD4+ cells|Reduced proportion of CD4-positive cells|Decreased proportion of CD4-positive, alpha-beta T cells http://purl.obolibrary.org/obo/HP_0032218 UBERON:0000486 biolink:AnatomicalEntity multilaminar epithelium Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]. UMLS:C0682575|FMA:45562|HAO:0000069|XAO:0004006|BTO:0002074|Wikipedia:Stratified_epithelium|NCIT:C33622|AAO:0010059|ZFA:0001494|EHDAA2:0003069|TAO:0001494|SCTID:309044005|BILA:0000069|AEO:0000069|CARO:0000069 hp.json stratified epithelium|laminated epithelium http://purl.obolibrary.org/obo/UBERON_0000486 uberon_slim|vertebrate_core UBERON:0000487 biolink:AnatomicalEntity simple squamous epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]. ZFA:0001498|BTO:0002073|EHDAA2:0003070|BILA:0000070|TAO:0001498|AEO:0000070|UMLS:C0836133|CARO:0000070|NCIT:C13178|XAO:0004010|AAO:0010066|HAO:0000070|Wikipedia:Simple_squamous_epithelium|FMA:45565 hp.json simple squamous epithelia|epithelium simplex squamosum http://purl.obolibrary.org/obo/UBERON_0000487 uberon_slim|vertebrate_core HP:0007289 biolink:PhenotypicFeature Limb fasciculations Fasciculations affecting the musculature of the arms and legs. UMLS:C1854657 hp.json Limb fasciculation http://purl.obolibrary.org/obo/HP_0007289 UBERON:0000488 biolink:AnatomicalEntity atypical epithelium Epithelium that consists of epithelial cells not arranged in one ore more layers. EHDAA2:0003071|XAO:0004004|BILA:0000071|CARO:0000071|AEO:0000071|FMA:61741|AAO:0010057|ZFA:0001493|HAO:0000071|TAO:0001493 hp.json atypical epithelia|heterogenous epithelium http://purl.obolibrary.org/obo/UBERON_0000488 vertebrate_core UBERON:0000489 biolink:AnatomicalEntity cavitated compound organ Compound organ that contains one or more macroscopic anatomical spaces. VHOG:0001730|TAO:0001490|FMA:55671|EHDAA2:0003072|BILA:0000072|CARO:0000072|AEO:0000072|AAO:0010016|XAO:0003165|HAO:0000072|TGMA:0001857|ZFA:0001490 hp.json cavitated compound organs|cavitated organ http://purl.obolibrary.org/obo/UBERON_0000489 upper_level|organ_slim UBERON:0000483 biolink:AnatomicalEntity epithelium Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. CALOHA:TS-0288|MESH:D004848|EMAPA:32738|ZFA:0001486|NCIT:C12710|BTO:0000416|HAO:0000066|Wikipedia:Epithelium|XAO:0003045|FBbt:00007005|TAO:0001486|UMLS:C0014609|SCTID:31610004|AAO:0000144|AAO:0010055|EHDAA2:0003066|FMA:9639|VHOG:0000387|BILA:0000066|AEO:0000066|GAID:402|CARO:0000066|MA:0003060 hp.json epithelial tissue|portion of epithelium http://purl.obolibrary.org/obo/UBERON_0000483 uberon_slim|vertebrate_core|pheno_slim HP:0007285 biolink:PhenotypicFeature Facial palsy secondary to cranial hyperostosis Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. UMLS:C1849260 hp.json Facial palsy secondary to hypertrophy of cranial bones|Facial palsy caused by enlargement of cranial bones|Facial palsy caused by excessive growth of facial bones|Facial palsy caused by overgrowth of cranial bones http://purl.obolibrary.org/obo/HP_0007285 HP:0007286 biolink:PhenotypicFeature Horizontal jerk nystagmus Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other. UMLS:C4024910 hp.json http://purl.obolibrary.org/obo/HP_0007286 UBERON:0000484 biolink:AnatomicalEntity simple cuboidal epithelium Unilaminar epithelium that consists of a single layer of cuboidal cells. XAO:0004009|HAO:0000067|ZFA:0001497|NCIT:C33553|TAO:0001497|Wikipedia:Simple_cuboidal_epithelium|UMLS:C0836134|EHDAA2:0003067|AAO:0010064|FMA:45566|BILA:0000067|AEO:0000067|CARO:0000067 hp.json epithelium simplex cuboideum|simple cuboidal epithelia http://purl.obolibrary.org/obo/UBERON_0000484 uberon_slim|vertebrate_core UBERON:0000485 biolink:AnatomicalEntity simple columnar epithelium Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]. XAO:0004008|SCTID:32210007|EHDAA2_RETIRED:0003068|HAO:0000068|ZFA:0001496|FBbt:00007027|UMLS:C0836135|NCIT:C33552|TAO:0001496|Wikipedia:Simple_columnar_epithelium|FMA:45567|BILA:0000068|AAO:0010063|AEO:0000068|CARO:0000068 hp.json simple columnar epithelium|columnar epithlium|columnar epithelium|simple columnar epithelia|epithelium simplex columnare http://purl.obolibrary.org/obo/UBERON_0000485 uberon_slim|vertebrate_core UBERON:0000468 biolink:AnatomicalEntity multicellular organism Anatomical structure that is an individual member of a species and consists of more than one cell. ZFA:0001094|BIRNLEX:18|WBbt:0007833|TADS:0000001|TGMA:0001832|EMAPA:25765|BILA:0000012|CARO:0000012|NCIT:C13041|TAO:0001094|galen:Organism|BTO:0000042|EFO:0002906|VHOG:0000671|FMA:256135|Wikipedia:Multi-cellular_organism|ncithesaurus:Whole_Organism|HAO:0000012|XAO:0003004|FBbt:00000001|EHDAA2:0003191|SCTID:243928005|BSA:0000038|EV:0100016|AAO:0010026|AEO:0000191|EHDAA2:0003103|EHDAA:1 hp.json multi-cellular organism|Koerper|whole body|organism|whole organism|body http://purl.obolibrary.org/obo/UBERON_0000468 efo_slim|uberon_slim|upper_level|pheno_slim HP:0032222 biolink:PhenotypicFeature Serrated intestinal polyps The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification. hp.json Serrated polyposis http://purl.obolibrary.org/obo/HP_0032222 CL:1000309 biolink:Cell epicardial adipocyte A fat cell that is part of the epicardial fat. FMA:261293 hp.json adipocyte of epicardial fat|epicardial fat cell http://purl.obolibrary.org/obo/CL_1000309 HP:0032223 biolink:PhenotypicFeature Blood group Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems. hp.json http://purl.obolibrary.org/obo/HP_0032223 HP:0032224 biolink:PhenotypicFeature ABO blood group The ABO system consists of A and B antigens and antibodies against these antigens. hp.json http://purl.obolibrary.org/obo/HP_0032224 CL:1000307 biolink:Cell fibroblast of dense regular elastic tissue A fibroblast that is part of the dense regular elastic tissue. FMA:261287 hp.json http://purl.obolibrary.org/obo/CL_1000307 CL:1000306 biolink:Cell fibroblast of tunica adventitia of artery A fibroblast that is part of the tunica adventitia of artery. FMA:261285 hp.json http://purl.obolibrary.org/obo/CL_1000306 HP:0032225 biolink:PhenotypicFeature Perifollicular fibroma Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle. hp.json http://purl.obolibrary.org/obo/HP_0032225 HP:0032220 biolink:PhenotypicFeature Interface hepatitis Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma. hp.json http://purl.obolibrary.org/obo/HP_0032220 CL:1000303 biolink:Cell fibroblast of areolar connective tissue A fibroblast that is part of the areolar connective tissue. FMA:261279 hp.json http://purl.obolibrary.org/obo/CL_1000303 HP:0032221 biolink:PhenotypicFeature Periportal emperipolesis The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area. hp.json http://purl.obolibrary.org/obo/HP_0032221 CHEBI:37622 biolink:ChemicalSubstance carboxamide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. hp.json carboxamides|primary carboxamide|carboxamides http://purl.obolibrary.org/obo/CHEBI_37622 3_STAR CHEBI:60059 biolink:ChemicalSubstance dermatan anion A carbohydrate acid derivative anion obtained from dermatan by deprotonation of the carboxylic acid groups of the repeating units; the major species at pH 7.3. hp.json dermatan|dermatan polyanion http://purl.obolibrary.org/obo/CHEBI_60059 3_STAR HP:0032226 biolink:PhenotypicFeature Abnormal sebaceous gland morphology Any structural anomaly of the sebaceous glands. hp.json http://purl.obolibrary.org/obo/HP_0032226 CHEBI:37627 biolink:ChemicalSubstance L-glucopyranose The L-enantiomer of glucopyranose. Reaxys:2206321|Beilstein:2206321|GlyTouCan:G16038XU|GlyGen:G16038XU hp.json L-glucopyranose|WURCS=2.0/1,1,0/[a1211h-1x_1-5]/1/ http://purl.obolibrary.org/obo/CHEBI_37627 3_STAR HP:0032227 biolink:PhenotypicFeature Sebaceous hyperplasia A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. hp.json http://purl.obolibrary.org/obo/HP_0032227 HP:0032228 biolink:PhenotypicFeature Trichodiscoma A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion. hp.json http://purl.obolibrary.org/obo/HP_0032228 CHEBI:37624 biolink:ChemicalSubstance L-glucose CAS:921-60-8|Beilstein:1724626 hp.json L-gluco-hexose|L(-)-glucose|L-glucose http://purl.obolibrary.org/obo/CHEBI_37624 3_STAR HP:0032229 biolink:PhenotypicFeature Perinuclear antineutrophil antibody positivity The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. hp.json p-ANCA positivity http://purl.obolibrary.org/obo/HP_0032229 UBERON:0000475 biolink:AnatomicalEntity organism subdivision Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. EHDAA2:0003032|MAT:0000293|TAO:0001308|BILA:0000032|AEO:0000032|TGMA:0001840|CARO:0000032|MIAA:0000293|FBbt:00007009|Wikipedia:Body_part|MA:0002433|OpenCyc:Mx4rvViAHJwpEbGdrcN5Y29ycA|XAO:0003013|HAO:0000032|EMAPA:36031|VHOG:0001758|BIRNLEX:7|NCIT:C32221|UMLS:C0229962|CALOHA:TS-2084|FMA:7153|MESH:D001829|ZFA:0001308|galen:BodyPart|AAO:0010053|EFO:0000808 hp.json anatomic region|body part|body region|cardinal body part http://purl.obolibrary.org/obo/UBERON_0000475 uberon_slim|upper_level|pheno_slim|efo_slim HP:0007299 biolink:PhenotypicFeature Dysfunction of lateral corticospinal tracts UMLS:C1832671 hp.json http://purl.obolibrary.org/obo/HP_0007299 UBERON:0000476 biolink:AnatomicalEntity acellular anatomical structure Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. TGMA:0001841|EHDAA2:0003040|BILA:0000040|CARO:0000040|AEO:0000040|AAO:0010268|HAO:0000040|ZFA:0000382|FMA:63863|FBbt:00007013|XAO:0003162|TAO:0000382 hp.json acellular anatomical structures http://purl.obolibrary.org/obo/UBERON_0000476 vertebrate_core UBERON:0000477 biolink:AnatomicalEntity anatomical cluster Anatomical group that has its parts adjacent to one another. XAO:0003160|TGMA:0001842|EHDAA2:0003041|ZFA:0001478|BILA:0000041|AAO:0010009|FMA:49443|CARO:0000041|AEO:0000041|TADS:0000605|TAO:0001478|VHOG:0001737|HAO:0000041|FBbt:00007277 hp.json http://purl.obolibrary.org/obo/UBERON_0000477 upper_level UBERON:0000478 biolink:AnatomicalEntity extraembryonic structure A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. UMLS:C1282438|CALOHA:TS-2119|AAO:0010020|TGMA:0001843|EHDAA2:0003042|FBbt:00005835|SCTID:314908006|BILA:0000042|CARO:0000042|AEO:0000042|XAO:0004005|FMA:85537|VHOG:0000292|EHDAA:46|HAO:0000042|ZFA:0000020|NCIT:C34055|TAO:0000020 hp.json extraembryonic tissue|extra-embryonic structure|extraembryonic structures http://purl.obolibrary.org/obo/UBERON_0000478 uberon_slim|vertebrate_core|pheno_slim UBERON:0000471 biolink:AnatomicalEntity compound organ component Multi-tissue structure that is part of a compound organ. ZFA:0001489|XAO:0003039|TAO:0001489|AAO:0010017|EHDAA2:0003019|BILA:0000019|AEO:0000019|CARO:0000019|TGMA:0001835|HAO:0000019 hp.json compound organ components http://purl.obolibrary.org/obo/UBERON_0000471 upper_level HP:0007295 biolink:PhenotypicFeature Chaotic rapid conjugate ocular movements UMLS:C4024909 hp.json http://purl.obolibrary.org/obo/HP_0007295 CL:0002294 biolink:Cell type-1 epithelial cell of thymus An epithelial cell with a well defined Golgi apparatus that makes up the continuous layer of cells bordering the thymic tissue beneath the capsule. FMA:72209 hp.json subcapsular thymic epithelial cell http://purl.obolibrary.org/obo/CL_0002294 CL:0002293 biolink:Cell epithelial cell of thymus An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. CALOHA:TS-1040|FMA:72208 hp.json thymic epithelial cell|epithelial cell of thymus gland|epithelial reticular cell|epithelial reticular cell of thymus http://purl.obolibrary.org/obo/CL_0002293 PR:Q14376 biolink:Protein UDP-glucose 4-epimerase (human) A UDP-glucose 4-epimerase that is encoded in the genome of human. UniProtKB:Q14376|Reactome:R-HSA-70362 hp.json UDP-galactose 4-epimerase (human)|GALE|hGALE|UDP-N-acetylgalactosamine 4-epimerase (human)|UDP-GlcNAc 4-epimerase (human)|UDP-N-acetylglucosamine 4-epimerase (human)|galactowaldenase (human)|UDP-GalNAc 4-epimerase (human) http://purl.obolibrary.org/obo/PR_Q14376 UBERON:0000473 biolink:AnatomicalEntity testis A gonad of a male animal. A gonad produces and releases sperm. MIAA:0000132|BTO:0001363|HAO:0001007|AAO:0000606|MESH:D013737|XAO:0000157|WBbt:0006794|VHOG:0000252|ZFA:0000598|EMAPA:17972|MA:0000411|EHDAA2:0002007|TAO:0000598|NCIT:C12412|galen:Testis|GAID:396|FMA:7210|CALOHA:TS-1030|EFO:0000984|EV:0100102|OpenCyc:Mx4rvVjM25wpEbGdrcN5Y29ycA|FBbt:00004928|MAT:0000132|UMLS:C0039597|BILA:0000124|EHDAA:8146|BSA:0000085 hp.json testes|gonad of male reproductive system|gonad of male genitalia|testicle|orchis|testiculus|male gonad http://purl.obolibrary.org/obo/UBERON_0000473 uberon_slim|vertebrate_core|organ_slim|pheno_slim|efo_slim UBERON:0000474 biolink:AnatomicalEntity female reproductive system The organs and associated structures associated with bearing offspring in a female animal. CALOHA:TS-1303|FMA:45663|EHDAA2:0000506|HAO:0000324|EFO:0000969|OpenCyc:Mx4rvVipTZwpEbGdrcN5Y29ycA|Wikipedia:Female_genitalia|XAO:0000156|BTO:0000083|FBbt:00004864|MESH:D005836|NCIT:C12402|GAID:364|VHOG:0000726|MIAA:0000028|EHDAA:8116|EMAPA:17959|SCTID:361386004|EV:0100110|MA:0000381|TGMA:0000635|UMLS:C0700038|WikipediaCategory:Female_reproductive_system hp.json female genital tract|genitalia of female organism|systema genitale femininum|reproductive system of female organism|female reproductive tract|female genitals|female organism reproductive system|female genital system|gynaecological tissue|female organism genitalia|female genitalia http://purl.obolibrary.org/obo/UBERON_0000474 uberon_slim|pheno_slim|efo_slim GO:0001775 biolink:BiologicalProcess cell activation A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. hp.json http://purl.obolibrary.org/obo/GO_0001775 goslim_pir GO:0001776 biolink:BiologicalProcess leukocyte homeostasis The process of regulating the proliferation and elimination of cells of the immune system such that the total number of cells of a particular cell type within a whole or part of an organism is stable over time in the absence of an outside stimulus. hp.json leucocyte homeostasis|immune cell homeostasis http://purl.obolibrary.org/obo/GO_0001776 GO:0001777 biolink:BiologicalProcess T cell homeostatic proliferation The non-specific expansion of T cell populations within a whole or part of an organism to reach to a total number of T cells which will then remain stable over time in the absence of an external stimulus. hp.json T lymphocyte homeostatic proliferation|T-lymphocyte homeostatic proliferation|resting T cell proliferation|resting T-cell proliferation|T-cell homeostatic proliferation http://purl.obolibrary.org/obo/GO_0001777 GO:0001773 biolink:BiologicalProcess myeloid dendritic cell activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. hp.json http://purl.obolibrary.org/obo/GO_0001773 HP:0010841 biolink:PhenotypicFeature Multifocal epileptiform discharges An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). UMLS:C4021219 hp.json Multifocal EEG abnormality http://purl.obolibrary.org/obo/HP_0010841 GO:0060073 biolink:BiologicalProcess micturition The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. Wikipedia:Urination hp.json urine voiding|urination http://purl.obolibrary.org/obo/GO_0060073 HP:0010849 biolink:PhenotypicFeature EEG with spike-wave complexes (>3.5 Hz) The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). UMLS:C4023684|UMLS:C4020765 hp.json EEG with 3-4-Hz spike waves http://purl.obolibrary.org/obo/HP_0010849 HP:0009849 biolink:PhenotypicFeature Symphalangism of middle phalanx of finger Fusion of a middle phalanx of a finger with another bone. UMLS:C4024184 hp.json Fused middle finger bone http://purl.obolibrary.org/obo/HP_0009849 HP:0010848 biolink:PhenotypicFeature EEG with spike-wave complexes (2.5-3.5 Hz) The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG). UMLS:C4023685 hp.json http://purl.obolibrary.org/obo/HP_0010848 HP:0009848 biolink:PhenotypicFeature Patchy sclerosis of middle phalanx of finger Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand. UMLS:C4021382 hp.json Uneven increase in bone density in the middle finger bones of the hand|Patchy sclerosis of the middle phalanges of the hand http://purl.obolibrary.org/obo/HP_0009848 HP:0010847 biolink:PhenotypicFeature EEG with spike-wave complexes (<2.5 Hz) The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG). UMLS:C4023686 hp.json Electroencephalogram demonstrated spike-slow wave discharges http://purl.obolibrary.org/obo/HP_0010847 HP:0010846 biolink:PhenotypicFeature EEG with persistent abnormal rhythmic activity UMLS:C4021216 hp.json EEG: persistent abnormal rhythmic activity http://purl.obolibrary.org/obo/HP_0010846 HP:0010845 biolink:PhenotypicFeature EEG with generalized slow activity Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). UMLS:C4021217 hp.json EEG: generalized slow activity|EEG: generalised slow activity|EEG with generalised slow activity http://purl.obolibrary.org/obo/HP_0010845 HP:0009845 biolink:PhenotypicFeature Bullet-shaped middle phalanges of the hand Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4024187 hp.json http://purl.obolibrary.org/obo/HP_0009845 HP:0009844 biolink:PhenotypicFeature Broad middle phalanx of finger Increased width of the middle phalanx of finger. UMLS:C4021383 hp.json Broad middle phalanges of the hand|Broad middle finger bones|Broad middle phalanges of finger http://purl.obolibrary.org/obo/HP_0009844 HP:0010844 biolink:PhenotypicFeature EEG with multifocal slow activity Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). UMLS:C4023687 hp.json http://purl.obolibrary.org/obo/HP_0010844 HP:0010843 biolink:PhenotypicFeature EEG with focal slow activity Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy). UMLS:C4021218 hp.json EEG: localized slow activity|EEG: focal slow activity|EEG: localised slow activity http://purl.obolibrary.org/obo/HP_0010843 HP:0009847 biolink:PhenotypicFeature Osteolytic defects of the middle phalanges of the hand UMLS:C4024185 hp.json http://purl.obolibrary.org/obo/HP_0009847 HP:0009846 biolink:PhenotypicFeature Curved middle phalanges of the hand UMLS:C4024186 hp.json Curved middle finger bonds of the hand http://purl.obolibrary.org/obo/HP_0009846 HP:0009840 biolink:PhenotypicFeature Patchy sclerosis of distal phalanx of finger Uneven (irregular) increase in bone density of the distal phalanges of the hand. UMLS:C4021384 hp.json Uneven increase in bone density in outermost finger bone|Patchy sclerosis of the distal phalanges of the hand http://purl.obolibrary.org/obo/HP_0009840 HP:0009843 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle phalanges of the hand UMLS:C1862152 hp.json Aplasia/hypoplasia of middle phalanges|Short to absent middle phalanges|Absent/small middle finger bone of the hand|Absent/hypoplastic middle phalanges|Hypoplastic/aplastic middle phalanx|Short/absent middle phalanges|Aplastic/hypoplastic middle phalanges|Absent/underdeveloped middle finger bone of the hand http://purl.obolibrary.org/obo/HP_0009843 GO:0001781 biolink:BiologicalProcess neutrophil apoptotic process Any apoptotic process in a neutrophil, any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. hp.json neutrophil programmed cell death by apoptosis|programmed cell death of neutrophils by apoptosis|apoptosis of neutrophils|neutrophil apoptosis|programmed cell death, neutrophils http://purl.obolibrary.org/obo/GO_0001781 HP:0010830 biolink:PhenotypicFeature Impaired tactile sensation A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. UMLS:C4021221 hp.json Abnormal thigmesthesia|Loss of tactile sensation|Impaired touch sensation http://purl.obolibrary.org/obo/HP_0010830 GO:0001780 biolink:BiologicalProcess neutrophil homeostasis The process of regulating the proliferation and elimination of neutrophils such that the total number of neutrophils within a whole or part of an organism is stable over time in the absence of an outside stimulus. hp.json http://purl.obolibrary.org/obo/GO_0001780 GO:0060065 biolink:BiologicalProcess uterus development The reproductive developmental process whose specific outcome is the progression of the uterus over time, from its formation to the mature structure. hp.json Mullerian tract development http://purl.obolibrary.org/obo/GO_0060065 GO:0060066 biolink:BiologicalProcess oviduct development The reproductive developmental process whose specific outcome is the progression of an oviduct over time, from its formation to the mature structure. An oviduct is a tube through which an ova passes from the ovary to the uterus, or from the ovary to the outside of the organism. hp.json Mullerian tract development|fallopian tube development http://purl.obolibrary.org/obo/GO_0060066 HP:0010838 biolink:PhenotypicFeature High nonceruloplasmin-bound serum copper An increased concentration of non ceruloplasmin bound copper in the blood. UMLS:C1848459 hp.json http://purl.obolibrary.org/obo/HP_0010838 HP:0010837 biolink:PhenotypicFeature Decreased circulating ceruloplasmin concentration Decreased concentration of ceruloplasmin in the blood. UMLS:C0240997 hp.json Hypoceruloplasminemia|Decreased serum ceruloplasminA|Hypoceruloplasminaemia|Decreased serum ceruloplasmin http://purl.obolibrary.org/obo/HP_0010837 HP:0010836 biolink:PhenotypicFeature Abnormal circulating copper concentration An abnormal concentration of copper. UMLS:C4020766|UMLS:C4023689 hp.json Abnormal copper levels http://purl.obolibrary.org/obo/HP_0010836 HP:0010835 biolink:PhenotypicFeature Dissociated sensory loss A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. UMLS:C0278136|SNOMEDCT_US:87275002 hp.json http://purl.obolibrary.org/obo/HP_0010835 HP:0010834 biolink:PhenotypicFeature Trophic changes related to pain Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails. UMLS:C4021220 hp.json Trophic changes http://purl.obolibrary.org/obo/HP_0010834 HP:0009856 biolink:PhenotypicFeature Patchy sclerosis of proximal phalanx of finger Uneven increase in bone density of the proximal phalanges of the hand. UMLS:C4021381 hp.json Uneven increase in bone density in innermost finger bone|Patchy sclerosis of the proximal phalanges of the hand http://purl.obolibrary.org/obo/HP_0009856 HP:0009855 biolink:PhenotypicFeature Osteolytic defects of the proximal phalanges of the hand UMLS:C1850148 hp.json Proximal phalanges osteolysis http://purl.obolibrary.org/obo/HP_0009855 HP:0010833 biolink:PhenotypicFeature Spontaneous pain sensation Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. UMLS:C4023690 hp.json http://purl.obolibrary.org/obo/HP_0010833 HP:0010832 biolink:PhenotypicFeature Abnormality of pain sensation Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. UMLS:C4023691 hp.json http://purl.obolibrary.org/obo/HP_0010832 HP:0009858 biolink:PhenotypicFeature Triangular shaped proximal phalanges of the hand UMLS:C4024177 hp.json Triangular shaped innermost finger bone http://purl.obolibrary.org/obo/HP_0009858 HP:0009857 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanges of the hand UMLS:C4024178 hp.json Fused innermost hand bones http://purl.obolibrary.org/obo/HP_0009857 HP:0010831 biolink:PhenotypicFeature Impaired proprioception A loss or impairment of the sensation of the relative position of parts of the body and joint position. UMLS:C1856691 hp.json Abnormality of proprioception http://purl.obolibrary.org/obo/HP_0010831 HP:0009852 biolink:PhenotypicFeature Broad proximal phalanges of the hand Increased width of the proximal phalanges of the finger. UMLS:C4024181 hp.json Broad innermost finger bones of the hand|Wide innermost finger bones of the hand http://purl.obolibrary.org/obo/HP_0009852 HP:0009851 biolink:PhenotypicFeature Aplasia/Hypoplasia of the proximal phalanges of the hand UMLS:C4024182 hp.json Absent/small innermost finger bones of the hand|Absent/underdeveloped innermost finger bones of the hand http://purl.obolibrary.org/obo/HP_0009851 HP:0009854 biolink:PhenotypicFeature Curved proximal phalanges of the hand UMLS:C4024179 hp.json Curved innermost finger bones of the hand http://purl.obolibrary.org/obo/HP_0009854 HP:0009853 biolink:PhenotypicFeature Bullet-shaped proximal phalanges of the hand Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4024180 hp.json Bullet-shaped innermost finger bones of the hand http://purl.obolibrary.org/obo/HP_0009853 HP:0009850 biolink:PhenotypicFeature Triangular shaped middle phalanges of the hand UMLS:C4024183 hp.json Triangular shaped middle finger bones of the hand http://purl.obolibrary.org/obo/HP_0009850 HP:0010839 biolink:PhenotypicFeature Increased urinary copper concentration An increased concentration of copper in the urine. UMLS:C4023688 hp.json Increased urinary copper concentration http://purl.obolibrary.org/obo/HP_0010839 GO:0098664 biolink:BiologicalProcess G protein-coupled serotonin receptor signaling pathway The series of molecular signals generated as a consequence of a G protein-coupled serotonin receptor binding to one of its physiological ligands. hp.json G-protein coupled serotonin receptor signaling pathway http://purl.obolibrary.org/obo/GO_0098664 GO:0098665 biolink:CellularComponent serotonin receptor complex A protein complex that is capable of serotonin receptor activity. hp.json 5-hydroxytryptamine receptor complex|5HT receptor complex|5-HT receptor complex http://purl.obolibrary.org/obo/GO_0098665 GO:0098662 biolink:BiologicalProcess inorganic cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. hp.json transmembrane inorganic cation transport|inorganic cation membrane transport|monovalent inorganic cation transport|divalent inorganic cation transport http://purl.obolibrary.org/obo/GO_0098662 GO:0001754 biolink:BiologicalProcess eye photoreceptor cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a photoreceptor cell, as found in the eye, the primary visual organ of most organisms. hp.json http://purl.obolibrary.org/obo/GO_0001754 GO:0001755 biolink:BiologicalProcess neural crest cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. hp.json http://purl.obolibrary.org/obo/GO_0001755 GO:0098660 biolink:BiologicalProcess inorganic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. hp.json inorganic ion membrane transport|transmembrane inorganic ion transport http://purl.obolibrary.org/obo/GO_0098660 GO:0098661 biolink:BiologicalProcess inorganic anion transmembrane transport The process in which an inorganic anion is transported across a membrane. hp.json transmembrane inorganic anion transport|inorganic anion membrane transport http://purl.obolibrary.org/obo/GO_0098661 GO:0001751 biolink:BiologicalProcess compound eye photoreceptor cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an eye photoreceptor cell. hp.json http://purl.obolibrary.org/obo/GO_0001751 HP:0009827 biolink:PhenotypicFeature Amelia Congenital absence (aplasia) of one or more limbs. MSH:D004480|MEDDRA:10001926|SNOMEDCT_US:62588002|UMLS:C0002447 hp.json http://purl.obolibrary.org/obo/HP_0009827 hposlim_core HP:0010827 biolink:PhenotypicFeature Abnormality of the seventh cranial nerve Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. UMLS:C4021223 hp.json Abnormality of the facial nerve http://purl.obolibrary.org/obo/HP_0010827 HP:0010826 biolink:PhenotypicFeature Abnormality of the twelfth cranial nerve Abnormality of the twelfth cranial nerve. UMLS:C4021224 hp.json Abnormality of the hypoglossal nerve|Abnormality of cranial nerve 12|Abnormality of cranial nerve xii http://purl.obolibrary.org/obo/HP_0010826 HP:0009826 biolink:PhenotypicFeature Limb undergrowth Limb shortening because of underdevelopment of one or more bones of the extremities. UMLS:C0239399 hp.json Limb undergrowth|limb shortening|Short limbs|Hypoplasia involving bones of the extremities|Short limb http://purl.obolibrary.org/obo/HP_0009826 HP:0009829 biolink:PhenotypicFeature Phocomelia Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). MSH:D004480|MEDDRA:10034923|UMLS:C0031575|SNOMEDCT_US:22841008 hp.json http://purl.obolibrary.org/obo/HP_0009829 hposlim_core HP:0010825 biolink:PhenotypicFeature Abnormality of the eleventh cranial nerve Abnormality of the eleventh cranial nerve. UMLS:C4021225 hp.json Abnormality of the accessory nerve|Abnormality of cranial nerve XI http://purl.obolibrary.org/obo/HP_0010825 HP:0010824 biolink:PhenotypicFeature Abnormal fifth cranial nerve morphology Any structural abormality of the fifth cranial nerve. UMLS:C4021226 hp.json Abnormality of the nervus trigeminus|Abnormality of the fifth cranial nerve|Abnormal trigeminal nerve morphology http://purl.obolibrary.org/obo/HP_0010824 HP:0009828 biolink:PhenotypicFeature Peromelia The distal parts of the limbs are missing leading to a stump formation. UMLS:C4024192 hp.json http://purl.obolibrary.org/obo/HP_0009828 HP:0010823 biolink:PhenotypicFeature Ridged cranial sutures An overlap of the bony plates of the skull in an infant, with or without early closure. UMLS:C4023692 hp.json Cranial suture ridges http://purl.obolibrary.org/obo/HP_0010823 hposlim_core HP:0009823 biolink:PhenotypicFeature Aplasia involving bones of the upper limbs UMLS:C4024194 hp.json Absent bones of the upper limbs http://purl.obolibrary.org/obo/HP_0009823 HP:0010822 biolink:PhenotypicFeature Scintillating scotoma A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights. MSH:D012607|UMLS:C0235068|SNOMEDCT_US:2228002 hp.json http://purl.obolibrary.org/obo/HP_0010822 HP:0009822 biolink:PhenotypicFeature Aplasia involving forearm bones UMLS:C4024195 hp.json Absent forearm bones http://purl.obolibrary.org/obo/HP_0009822 HP:0009825 biolink:PhenotypicFeature Aplasia involving bones of the extremities UMLS:C4024193 hp.json Absent bones of the extremities http://purl.obolibrary.org/obo/HP_0009825 HP:0010821 biolink:PhenotypicFeature Focal emotional seizure with laughing Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. SNOMEDCT_US:89525009|MSH:D004828|UMLS:C0270820 hp.json Gelastic seizures|Gelastic seizure http://purl.obolibrary.org/obo/HP_0010821 HP:0010820 biolink:PhenotypicFeature Focal emotional seizure with crying Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. UMLS:C4023693 hp.json Dacrystic seizure|Dacrystic seizures http://purl.obolibrary.org/obo/HP_0010820 HP:0009824 biolink:PhenotypicFeature Upper limb undergrowth Arm shortening because of underdevelopment of one or more bones of the upper extremity. UMLS:C1837406 hp.json Upper limb undergrowth|Shortening of the arms|Short arms|Hypoplasia involving bones of the upper limbs http://purl.obolibrary.org/obo/HP_0009824 HP:0009821 biolink:PhenotypicFeature Forearm undergrowth Forearm shortening because of underdevelopment of one or more bones of the forearm. UMLS:C1855299 hp.json Forearm undergrowth|Short forearm bones|Hypoplasia involving forearm bones|Short forearms|Shortened forearm http://purl.obolibrary.org/obo/HP_0009821 HP:0009820 biolink:PhenotypicFeature Lower limb peromelia Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. UMLS:C4024196 hp.json http://purl.obolibrary.org/obo/HP_0009820 GO:0001756 biolink:BiologicalProcess somitogenesis The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. Wikipedia:Somitogenesis hp.json formation of mesodermal clusters http://purl.obolibrary.org/obo/GO_0001756 HP:0010829 biolink:PhenotypicFeature Impaired temperature sensation A reduced ability to discriminate between different temperatures. UMLS:C4021222 hp.json Impaired thermal sensitivity|Loss of temperature sensation|Abnormality of temperature sensation|Impaired temperature sensation http://purl.obolibrary.org/obo/HP_0010829 GO:0098666 biolink:CellularComponent G protein-coupled serotonin receptor complex A protein complex that is capable of G protein-coupled serotonin receptor activity. hp.json G-protein coupled serotonin receptor complex http://purl.obolibrary.org/obo/GO_0098666 HP:0010828 biolink:PhenotypicFeature Hemifacial spasm Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions. MSH:D019569|SNOMEDCT_US:13753008|UMLS:C0278152 hp.json Hemifacial spasms|Spasms on one side of the face http://purl.obolibrary.org/obo/HP_0010828 GO:0001763 biolink:BiologicalProcess morphogenesis of a branching structure The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. hp.json branching morphogenesis http://purl.obolibrary.org/obo/GO_0001763 GO:0001764 biolink:BiologicalProcess neuron migration The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. Wikipedia:Neural_development#Neuron_migration|Wikipedia:Neuron_migration hp.json neuron guidance|neuron chemotaxis|neuronal migration http://purl.obolibrary.org/obo/GO_0001764 GO:0060082 biolink:NamedThing eye blink reflex hp.json http://purl.obolibrary.org/obo/GO_0060082 GO:0060083 biolink:BiologicalProcess smooth muscle contraction involved in micturition The process leading to shortening and/or development of tension in the urinary bladder smooth muscle tissue involved in the expulsion urine from the body. hp.json smooth muscle contraction involved in urination|urinary bladder smooth muscle contraction involved in micturition http://purl.obolibrary.org/obo/GO_0060083 GO:0060084 biolink:BiologicalProcess synaptic transmission involved in micturition The process of communication from a neuron to a smooth muscle in the bladder that contributes to the expulsion of urine from the body. hp.json synaptic transmission involved in urination http://purl.obolibrary.org/obo/GO_0060084 HP:0010816 biolink:PhenotypicFeature Epidermal nevus Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. SNOMEDCT_US:239107007|UMLS:C0334082|MSH:C580062|SNOMEDCT_US:25201003 hp.json Epidermal nevi http://purl.obolibrary.org/obo/HP_0010816 HP:0009838 biolink:PhenotypicFeature Curved distal phalanges of the hand UMLS:C4024188 hp.json Curved outermost finger bone of the hand http://purl.obolibrary.org/obo/HP_0009838 GO:0060089 biolink:MolecularActivity molecular transducer activity A compound molecular function in which an effector function is controlled by one or more regulatory components. hp.json http://purl.obolibrary.org/obo/GO_0060089 goslim_generic|gocheck_do_not_manually_annotate|goslim_pir HP:0010815 biolink:PhenotypicFeature Nevus sebaceous A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. UMLS:C3854181|SNOMEDCT_US:707136009|MSH:D054000|SNOMEDCT_US:52298009|SNOMEDCT_US:239112008 hp.json Naevus sebaceous|Sebaceous mole|Sebaceous naevus|Sebaceous nevus|Organoid nevus http://purl.obolibrary.org/obo/HP_0010815 HP:0009837 biolink:PhenotypicFeature Bullet-shaped distal phalanges of the hand Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4024189 hp.json Bullet-shaped outermost finger bone of the hand http://purl.obolibrary.org/obo/HP_0009837 HP:0010814 biolink:PhenotypicFeature Abnormal position of hair whorl Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. UMLS:C4023694 hp.json Abnormal location of hair swirl|Abnormal position of hair whorl http://purl.obolibrary.org/obo/HP_0010814 hposlim_core HP:0009839 biolink:PhenotypicFeature Osteolytic defects of the distal phalanges of the hand UMLS:C1849547 hp.json Osteolytic defects of the outermost finger bone of the hand|Acroosteolysis of distal phalanges|Acro-osteolysis of distal phalanges http://purl.obolibrary.org/obo/HP_0009839 HP:0010813 biolink:PhenotypicFeature Abnormal number of hair whorls More than two clockwise hair whorls. UMLS:C4023695 hp.json Extra hair whorl|Abnormal number of hair swirls|Extra hair swirls|Supernumary hair swirls|Double crown (hair whorls)|Supernumary hair whorl|Abnormal number of hair whorls http://purl.obolibrary.org/obo/HP_0010813 hposlim_core HP:0009834 biolink:PhenotypicFeature Abnormal proximal phalanx morphology of the hand UMLS:C4024190 hp.json Abnormality of the proximal phalanges of the hand|Abnormality of the innermost finger bones of the hand http://purl.obolibrary.org/obo/HP_0009834 HP:0010812 biolink:PhenotypicFeature Short uvula Decreased length of the uvula. UMLS:C1401781 hp.json Blunt uvula|Short palatine uvula|Hypoplastic uvula http://purl.obolibrary.org/obo/HP_0010812 HP:0009833 biolink:PhenotypicFeature Abnormal middle phalanx morphology of the hand An anomaly of middle phalanx of finger. UMLS:C4024191 hp.json Abnormality of the middle phalanges of the hand|Abnormality of the middle finger bones of the hand http://purl.obolibrary.org/obo/HP_0009833 HP:0010811 biolink:PhenotypicFeature Narrow uvula Decreased width of the uvula. UMLS:C4023696 hp.json Narrow palatine uvula|Thin uvula http://purl.obolibrary.org/obo/HP_0010811 hposlim_core HP:0009836 biolink:PhenotypicFeature Broad distal phalanx of finger Abnormally wide (broad) distal phalanx of finger. UMLS:C1850630 hp.json Spatulate terminal phalanges|Broad, square ends of distal phalanges|Broad outermost finger bone|Broad distal phalanges|Broad terminal phalanges|Broad distal phalanges of the hand|Broad distal phalanx http://purl.obolibrary.org/obo/HP_0009836 HP:0010810 biolink:PhenotypicFeature Long uvula Increased length of the uvula. UMLS:C4023697|UMLS:C4280362 hp.json Hyperplasia of uvula|Long palatine uvula|Elongated uvula http://purl.obolibrary.org/obo/HP_0010810 hposlim_core HP:0009835 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanges of the hand Absence or underdevelopment of the distal phalanges. UMLS:C1861336 hp.json Aplastic/hypoplastic distal phalanges|Absent/underdeveloped outermost finger bone of the hand|Small or absent distal phalanges|Hypoplastic to absent terminal phalanges|Absent/hypoplastic distal phalanges|Aplasia/Hypoplasia of the distal phalanges|Hypoplastic/aplastic distal phalanx|Absent/small outermost finger bone of the hand|Hypoplastic/aplastic distal phalanges http://purl.obolibrary.org/obo/HP_0009835 HP:0009830 biolink:PhenotypicFeature Peripheral neuropathy Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. UMLS:C0031117|SNOMEDCT_US:302226006|SNOMEDCT_US:386033004|UMLS:C0442874|SNOMEDCT_US:42658009|MSH:D010523 hp.json Peripheral nerve damage|Neuropathy|Peripheral neuritis http://purl.obolibrary.org/obo/HP_0009830 HP:0009832 biolink:PhenotypicFeature Abnormal distal phalanx morphology of finger Any anomaly of distal phalanx of finger. UMLS:C4021385 hp.json Abnormality of the outermost finger bone|Abnormal terminal phalanges of the hand|Abnormality of the distal phalanges of the hand|Abnormality of the distal phalanx of finger http://purl.obolibrary.org/obo/HP_0009832 HP:0009831 biolink:PhenotypicFeature Mononeuropathy A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. MSH:D020422|SNOMEDCT_US:128189008|UMLS:C0494491 hp.json Single damaged nerve http://purl.obolibrary.org/obo/HP_0009831 GO:0001767 biolink:BiologicalProcess establishment of lymphocyte polarity The directed orientation of lymphocyte signaling molecules and associated membrane rafts towards a chemokine gradient or a contact point with an appropriate activating cell. hp.json lymphocyte polarization http://purl.obolibrary.org/obo/GO_0001767 HP:0010819 biolink:PhenotypicFeature Atonic seizure Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. SNOMEDCT_US:189198006|UMLS:C1836509|SNOMEDCT_US:42365007|UMLS:C0270846 hp.json Astatic seizure|Astatic seizures|Drop seizures|Sudden loss of muscle tone|Hypotonic seizure|Hypotonic seizures|Drop attacks|Atonic seizures http://purl.obolibrary.org/obo/HP_0010819 GO:0001768 biolink:BiologicalProcess establishment of T cell polarity The directed orientation of T cell signaling molecules and associated membrane rafts towards a chemokine gradient or a contact point with antigen presenting cell. hp.json establishment of T lymphocyte polarity|establishment of T-cell polarity|T lymphocyte polarization|T-cell polarization|establishment of T-lymphocyte polarity|T cell polarization http://purl.obolibrary.org/obo/GO_0001768 HP:0010818 biolink:PhenotypicFeature Generalized tonic seizure A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. UMLS:C1836508 hp.json Generalised tonic seizure|Generalised tonic seizures|Generalized hypertonic seizure|Generalized tonic seizures|Hypertonic seizures|Generalised hypertonic seizure http://purl.obolibrary.org/obo/HP_0010818 HP:0010817 biolink:PhenotypicFeature Linear nevus sebaceous A type of nevus sebaceous with a linear form, raised borders and yellowish color. UMLS:C3854181|SNOMEDCT_US:707136009|MSH:D054000|SNOMEDCT_US:52298009|SNOMEDCT_US:239112008 hp.json http://purl.obolibrary.org/obo/HP_0010817 HP:0020208 biolink:PhenotypicFeature Eating-induced seizure A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period. hp.json http://purl.obolibrary.org/obo/HP_0020208 CHEBI:50699 biolink:ChemicalSubstance oligosaccharide A compound in which monosaccharide units are joined by glycosidic linkages. The term is commonly used to refer to a defined structure as opposed to a polymer of unspecified length or a homologous mixture. When the linkages are of other types the compounds are regarded as oligosaccharide analogues. KEGG:C00930 hp.json O-glycosylglycoside|oligosaccharides|oligosacarido|oligosacaridos|O-glycosylglycosides|Oligosaccharide http://purl.obolibrary.org/obo/CHEBI_50699 3_STAR HP:0020207 biolink:PhenotypicFeature Reflex seizure Seizures precipitated by exogenous stimuli. hp.json http://purl.obolibrary.org/obo/HP_0020207 HP:0009890 biolink:PhenotypicFeature High anterior hairline Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. UMLS:C3276036 hp.json High frontal hairline http://purl.obolibrary.org/obo/HP_0009890 hposlim_core HP:0020209 biolink:PhenotypicFeature Hot water-induced seizure A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger. hp.json http://purl.obolibrary.org/obo/HP_0020209 CHEBI:23079 biolink:ChemicalSubstance cerebroside hp.json http://purl.obolibrary.org/obo/CHEBI_23079 HP:0020204 biolink:PhenotypicFeature Tubulointerstitial bacterial infiltration Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. hp.json Renal tubulointerstitial bacterial organisms http://purl.obolibrary.org/obo/HP_0020204 HP:0020203 biolink:PhenotypicFeature Z-band streaming Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. hp.json http://purl.obolibrary.org/obo/HP_0020203 UBERON:0000414 biolink:AnatomicalEntity mucous gland A gland in which the principal secretory cells are mucus secreting cells. BTO:0001979|AAO:0010601|EMAPA:37913|FMA:62888|Wikipedia:Mucous_gland hp.json glandula mucosa|glandula mucosa|muciparous gland|mucus-secreting gland|mucus gland|mucous secreting gland http://purl.obolibrary.org/obo/UBERON_0000414 organ_slim UBERON:0000415 biolink:AnatomicalEntity artery wall An anatomical wall that is part of an artery [Automatically generated definition]. FMA:14155|galen:ArterialWall|BTO:0002009 hp.json wall of artery|arterial wall http://purl.obolibrary.org/obo/UBERON_0000415 HP:0020206 biolink:PhenotypicFeature Simple ear The pinna has fewer folds and grooves than usual. hp.json http://purl.obolibrary.org/obo/HP_0020206 HP:0020205 biolink:PhenotypicFeature Tubulointerstitial fungal infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. hp.json Renal tubulointerstitial fungal organisms http://purl.obolibrary.org/obo/HP_0020205 HP:0010885 biolink:PhenotypicFeature Avascular necrosis A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. SNOMEDCT_US:72756009|SNOMEDCT_US:398199007|SNOMEDCT_US:240196003|UMLS:C0085660|MSH:D010020|UMLS:C0877326|UMLS:C0520474|UMLS:C0029445 hp.json Ischaemic bone necrosis|Death of bone due to decreased blood supply|Aseptic necrosis|Bone infarction|Aseptic bone necrosis|Ischemic bone necrosis|Osteonecrosis|Osteochondronecrosis http://purl.obolibrary.org/obo/HP_0010885 HP:0010884 biolink:PhenotypicFeature Acromelia Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. UMLS:C4023675 hp.json http://purl.obolibrary.org/obo/HP_0010884 hposlim_core GO:0072091 biolink:BiologicalProcess regulation of stem cell proliferation Any process that modulates the frequency, rate or extent of stem cell proliferation. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. hp.json http://purl.obolibrary.org/obo/GO_0072091 HP:0010883 biolink:PhenotypicFeature Aortic valve atresia A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. UMLS:C0265843|SNOMEDCT_US:51442005 hp.json Aortic atresia http://purl.obolibrary.org/obo/HP_0010883 HP:0010882 biolink:PhenotypicFeature Pulmonary valve atresia A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. SNOMEDCT_US:204342004|SNOMEDCT_US:448564004|UMLS:C0242855|MSH:D018633|Fyler:1001 hp.json http://purl.obolibrary.org/obo/HP_0010882 CHEBI:47042 biolink:ChemicalSubstance hydroxycalciol hp.json hydroxycholecalciferols|hydroxycalciol|hydroxycalciols|hydroxycholecalciferol http://purl.obolibrary.org/obo/CHEBI_47042 3_STAR HP:0010881 biolink:PhenotypicFeature Abnormality of the umbilical cord An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. UMLS:C0266785|SNOMEDCT_US:90009001 hp.json Umbilical cord issue http://purl.obolibrary.org/obo/HP_0010881 HP:0010880 biolink:PhenotypicFeature Increased nuchal translucency Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). UMLS:C4023676 hp.json http://purl.obolibrary.org/obo/HP_0010880 CHEBI:23075 biolink:ChemicalSubstance glycotetraosylceramide An oligoglycosylceramide consisting of a glycotetraosyl moiety attached to the ceramide oxygen with an unspecified N-acyl substituent attached to the ceramide nitrogen. hp.json glycotetraosylceramides http://purl.obolibrary.org/obo/CHEBI_23075 3_STAR HP:0010889 biolink:PhenotypicFeature Morbus Kienboeck Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum. SNOMEDCT_US:360466009|MSH:D010020|SNOMEDCT_US:84062004|SNOMEDCT_US:367356000|UMLS:C0022682 hp.json Kienboeck's disease|Lunatomalacia|Kienböck's disease http://purl.obolibrary.org/obo/HP_0010889 HP:0009889 biolink:PhenotypicFeature Localized hirsutism Abnormally increased hair growth with a localized distribution. UMLS:C4024170 hp.json Localized abnormal hair growth|Localised abnormal hair growth|Localised hirsutism http://purl.obolibrary.org/obo/HP_0009889 HP:0007227 biolink:PhenotypicFeature Macrogyria Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum. SNOMEDCT_US:23024003|MSH:D054082|UMLS:C0266483 hp.json http://purl.obolibrary.org/obo/HP_0007227 HP:0009888 biolink:PhenotypicFeature Abnormality of secondary sexual hair Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. UMLS:C4024171 hp.json Abnormality of secondary sexual hair http://purl.obolibrary.org/obo/HP_0009888 HP:0010888 biolink:PhenotypicFeature Morbus Koehler Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis. UMLS:C4023674 hp.json http://purl.obolibrary.org/obo/HP_0010888 HP:0010886 biolink:PhenotypicFeature Osteochondritis dissecans A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. UMLS:C0029421|SNOMEDCT_US:82562007|MSH:D010008 hp.json Osteochondrosis dissecans http://purl.obolibrary.org/obo/HP_0010886 HP:0007229 biolink:PhenotypicFeature Intracerebral periventricular calcifications The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. UMLS:C1837246 hp.json http://purl.obolibrary.org/obo/HP_0007229 HP:0020200 biolink:PhenotypicFeature Increased circulating 18-hydroxycortisone level An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0020200 HP:0009885 biolink:PhenotypicFeature obsolete Prenatal short stature hp.json http://purl.obolibrary.org/obo/HP_0009885 HP:0009884 biolink:PhenotypicFeature Tapered distal phalanges of finger A reduction in diameter of the distal phalanx of finger towards the distal end. UMLS:C1969237 hp.json Tapered distal phalanges|Tapered outermost finger bone|Tapered distal phalanges of the hand http://purl.obolibrary.org/obo/HP_0009884 HP:0020202 biolink:PhenotypicFeature Abnormal Z disc morphology Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. hp.json http://purl.obolibrary.org/obo/HP_0020202 HP:0009887 biolink:PhenotypicFeature Abnormality of hair pigmentation An abnormality of hair pigmentation (color). UMLS:C4024172 hp.json Abnormality of hair colour|Abnormality of hair color|Abnormality of hair pigmentation http://purl.obolibrary.org/obo/HP_0009887 UBERON:0000423 biolink:AnatomicalEntity eccrine sweat gland A merocrine, unbranched, unbranched, coiled, tubular gland sweat gland. In humans, distributed over almost all of the body surface, and promote cooling by evaporation of their secretion. FMA:59154|BTO:0002323|GAID:945|NCIT:C32490|MESH:D004439|MA:0003039|UMLS:C0013492 hp.json merocrine sweat gland|glandula sudorifera merocrina|eccrine gland|glandula sudorifera eccrina http://purl.obolibrary.org/obo/UBERON_0000423 organ_slim|pheno_slim|human_reference_atlas HP:0009886 biolink:PhenotypicFeature Trichorrhexis nodosa Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. UMLS:C0263485|SNOMEDCT_US:22486004|SNOMEDCT_US:238736006 hp.json http://purl.obolibrary.org/obo/HP_0009886 HP:0020201 biolink:PhenotypicFeature Abnormal sarcomere morphology Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. hp.json http://purl.obolibrary.org/obo/HP_0020201 HP:0009881 biolink:PhenotypicFeature Aplasia of the distal phalanges of the hand UMLS:C4024173 hp.json Aplasia of outermost hand bone|Absent outermost hand bone|Absent distal phalanges of the hand http://purl.obolibrary.org/obo/HP_0009881 HP:0009880 biolink:PhenotypicFeature Broad distal phalanges of all fingers Abnormally wide (broad) distal phalanx of finger of all fingers. UMLS:C4024174 hp.json Broad outermost hand bones http://purl.obolibrary.org/obo/HP_0009880 HP:0007220 biolink:PhenotypicFeature Demyelinating motor neuropathy Demyelination of peripheral motor nerves. UMLS:C1969462 hp.json http://purl.obolibrary.org/obo/HP_0007220 HP:0009883 biolink:PhenotypicFeature Duplication of the distal phalanx of hand This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. UMLS:C1849343 hp.json Partial/complete duplication of the distal phalanges of the hand|Bifid terminal phalanges|Notched outermost bone of hand|Duplication of the outermost bone of hand http://purl.obolibrary.org/obo/HP_0009883 HP:0009882 biolink:PhenotypicFeature Short distal phalanx of finger Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. UMLS:C1839829 hp.json Hypoplasia of the distal phalanges of the hand|Short distal phalanges|Brachytelophalangy|Hypoplasic terminal phalanges|Hypoplastic distal phalanges|Hypoplasia of the distal phalanges|Terminal phalangeal hypoplasia of hand|Hypoplastic terminal phalanges|Short outermost finger bone|Distal phalangeal hypoplasia http://purl.obolibrary.org/obo/HP_0009882 hposlim_core HP:0007221 biolink:PhenotypicFeature Progressive truncal ataxia UMLS:C1849143 hp.json http://purl.obolibrary.org/obo/HP_0007221 GO:0072089 biolink:BiologicalProcess stem cell proliferation The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. hp.json http://purl.obolibrary.org/obo/GO_0072089 GO:0001743 biolink:BiologicalProcess lens placode formation The initial developmental process that will lead to the formation of an eye. hp.json optic placode formation http://purl.obolibrary.org/obo/GO_0001743 UBERON:0000409 biolink:AnatomicalEntity serous gland A gland in which the principal secretory cells are serous secreting cells. BTO:0001837|FMA:62889|EMAPA:37950|Wikipedia:Serous_gland hp.json http://purl.obolibrary.org/obo/UBERON_0000409 organ_slim|pheno_slim UBERON:0000402 biolink:AnatomicalEntity nasal vestibule The nasal vestibule is the most anterior part of the nasal cavity. It's enclosed by the cartilages of nose and lined by the same epithelium of the skin. The other part of the nasal cavity, which is lined by the respiratory epithelium, is called nasal cavity proper. [WP,unvetted]. CALOHA:TS-0660|BTO:0001761|FMA:59644 hp.json vestibulum nasi|vestibulum nasale|vestibulum nasi|vestibular part of nasal cavity http://purl.obolibrary.org/obo/UBERON_0000402 UBERON:0000403 biolink:AnatomicalEntity scalp The outer covering of the calvaria. It is composed of several layers: SKIN; subcutaneous connective tissue; the occipitofrontal muscle which includes the tendonous galea aponeurotica; Loose connective tissue; and the pericranium (the PERIOSTEUM of the SKULL). UMLS:C0036270|MESH:D012535|GAID:80|FMA:46494|galen:Scalp|NCIT:C89807|BTO:0001809|CALOHA:TS-0896|EMAPA:37949|OpenCyc:Mx4rwNtaz5wpEbGdrcN5Y29ycA hp.json scalpus http://purl.obolibrary.org/obo/UBERON_0000403 pheno_slim CHEBI:50689 biolink:ChemicalSubstance reproductive control drug A substance used either in the prevention or facilitation of pregnancy. hp.json reproductive control agent|reproductive control drugs http://purl.obolibrary.org/obo/CHEBI_50689 3_STAR HP:0010874 biolink:PhenotypicFeature Tendon xanthomatosis The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). SNOMEDCT_US:69880002|UMLS:C0221253 hp.json Tendon xanthomas http://purl.obolibrary.org/obo/HP_0010874 HP:0010873 biolink:PhenotypicFeature Cervical spinal cord atrophy Atrophy of the cervical segment of the spinal cord. UMLS:C0742191 hp.json http://purl.obolibrary.org/obo/HP_0010873 HP:0010872 biolink:PhenotypicFeature T-wave inversion An inversion of the T-wave (which is normally positive). UMLS:C0520888|SNOMEDCT_US:59931005 hp.json EKG: T-wave inversion http://purl.obolibrary.org/obo/HP_0010872 HP:0010871 biolink:PhenotypicFeature Sensory ataxia Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. SNOMEDCT_US:69131009|MSH:D001259|SNOMEDCT_US:445458007|UMLS:C0037921|UMLS:C0240991 hp.json Afferent ataxia|Spinal ataxia|Ataxia, sensory http://purl.obolibrary.org/obo/HP_0010871 HP:0010879 biolink:PhenotypicFeature Postnatal cystic hygroma UMLS:C4023677 hp.json http://purl.obolibrary.org/obo/HP_0010879 HP:0010878 biolink:PhenotypicFeature Fetal cystic hygroma The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas. MSH:C537852|UMLS:C0948242 hp.json Foetal cystic hygroma http://purl.obolibrary.org/obo/HP_0010878 HP:0010877 biolink:PhenotypicFeature Monocular strabismus A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times. UMLS:C4023678 hp.json Unilateral strabismus http://purl.obolibrary.org/obo/HP_0010877 HP:0009899 biolink:PhenotypicFeature Prominent crus of helix The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. UMLS:C4021377 hp.json Hyperplastic helix crus|Hypertrophic helix crus|Helix, crus, prominent|Abnormal prominence of the crus of the ear http://purl.obolibrary.org/obo/HP_0009899 hposlim_core HP:0007238 biolink:PhenotypicFeature Nonarteriosclerotic cerebral calcification UMLS:C4021579 hp.json Cerebral calcification, nonarteriosclerotic http://purl.obolibrary.org/obo/HP_0007238 HP:0007239 biolink:PhenotypicFeature Congenital encephalopathy UMLS:C4024917 hp.json http://purl.obolibrary.org/obo/HP_0007239 HP:0010876 biolink:PhenotypicFeature Abnormal circulating protein concentration An abnormal level of a circulating protein in the blood. UMLS:C4020764|UMLS:C4023679|UMLS:C4020763 hp.json Abnormal circulating protein level|Serum protein abnormality|Blood protein disease|Abnormality of circulating protein level http://purl.obolibrary.org/obo/HP_0010876 HP:0010875 biolink:PhenotypicFeature Chaddock reflex A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract. SNOMEDCT_US:413813004|UMLS:C1531651 hp.json http://purl.obolibrary.org/obo/HP_0010875 HP:0009896 biolink:PhenotypicFeature Abnormal antitragus morphology An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. UMLS:C4024167 hp.json http://purl.obolibrary.org/obo/HP_0009896 hposlim_core HP:0007233 biolink:PhenotypicFeature Clusters of axonal regeneration Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. UMLS:C1843169 hp.json http://purl.obolibrary.org/obo/HP_0007233 UBERON:0000410 biolink:AnatomicalEntity bronchial mucosa A mucosa that is part of a bronchus [Automatically generated definition]. BTO:0001846|FMA:62652 hp.json bronchial trunk organ mucosa|bronchi mucosa|mucosa of bronchus|tunica mucosa bronchi|bronchi organ mucosa|organ mucosa of bronchus|mucous membrane of bronchus|mucous membrane of bronchi|bronchi mucosa of organ|organ mucosa of bronchi|bronchial trunk mucosa of organ|mucosa of bronchi|organ mucosa of bronchial trunk|mucous membrane of bronchial trunk|mucosa of bronchial trunk|bronchus mucosa of organ|bronchi mucous membrane|mucous membrane of bronchus|mucosa of organ of bronchi|mucosa of organ of bronchial trunk|bronchial trunk mucous membrane|bronchus mucous membrane|mucosa of organ of bronchus|bronchus mucosa|bronchus organ mucosa|bronchial trunk mucosa http://purl.obolibrary.org/obo/UBERON_0000410 HP:0009895 biolink:PhenotypicFeature Abnormality of the crus of the helix An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. UMLS:C4021380 hp.json Abnormality of the crus of the ear http://purl.obolibrary.org/obo/HP_0009895 HP:0009898 biolink:PhenotypicFeature Underdeveloped crus of the helix Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average. UMLS:C4021378 hp.json Underdeveloped crus of the ear|Hypoplasia of the crus of the ear http://purl.obolibrary.org/obo/HP_0009898 hposlim_core HP:0009897 biolink:PhenotypicFeature Horizontal crus of helix An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly. UMLS:C4021379 hp.json Helix, crus, horizontal|Horizontal orientation of the ear crus|Railroad track sign|Horizontal orientation of the crus of helix|Railroad track ears http://purl.obolibrary.org/obo/HP_0009897 hposlim_core HP:0007236 biolink:PhenotypicFeature Recurrent subcortical infarcts UMLS:C4024918 hp.json http://purl.obolibrary.org/obo/HP_0007236 HP:0009892 biolink:PhenotypicFeature Anotia Complete absence of any auricular structures. UMLS:C0702139|UMLS:C1408788|SNOMEDCT_US:57436000|MSH:D065817 hp.json Congenital absence of external ear|Absent ear|Absent ears http://purl.obolibrary.org/obo/HP_0009892 hposlim_core GO:0001745 biolink:BiologicalProcess compound eye morphogenesis The morphogenetic process in which the anatomical structures of the compound eye are generated and organized. The adult compound eye is a precise assembly of 700-800 ommatidia. Each ommatidium is composed of 20 cells, identified by cell type and position. An example of compound eye morphogenesis is found in Drosophila melanogaster. hp.json insect-type retina morphogenesis http://purl.obolibrary.org/obo/GO_0001745 HP:0009891 biolink:PhenotypicFeature Underdeveloped supraorbital ridges Flatness of the supraorbital portion of the frontal bones. UMLS:C4020777|UMLS:C1861869 hp.json Hypoplasia of supraorbital margins|Depressed supraorbital margins|Flattened bony protrusion above eyes|Hypoplasia of the supraorbital ridges|Depressed supraorbital ridge|Underdeveloped brows|Hypoplastic supraorbital ridges|Shallow supraorbital ridge|Shallow orbital ridges|Flat supraorbital margins|Flat supraorbital ridge http://purl.obolibrary.org/obo/HP_0009891 hposlim_core HP:0007230 biolink:PhenotypicFeature Decreased distal sensory nerve action potential A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. UMLS:C4024920 hp.json http://purl.obolibrary.org/obo/HP_0007230 HP:0009894 biolink:PhenotypicFeature Thickened ears Increased thickness of the external ear. UMLS:C4024168 hp.json Thickened ears http://purl.obolibrary.org/obo/HP_0009894 hposlim_core HP:0009893 biolink:PhenotypicFeature Telangiectasia of the ear The presence of telangiectasia of the ear. UMLS:C4024169 hp.json http://purl.obolibrary.org/obo/HP_0009893 hposlim_core HP:0007232 biolink:PhenotypicFeature Spinocerebellar tract disease in lower limbs UMLS:C4024919 hp.json http://purl.obolibrary.org/obo/HP_0007232 HP:0010863 biolink:PhenotypicFeature Receptive language delay A delay in the acquisition of the ability to understand the speech of others. SNOMEDCT_US:229736005|UMLS:C0454642 hp.json http://purl.obolibrary.org/obo/HP_0010863 HP:0010862 biolink:PhenotypicFeature Delayed fine motor development A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. UMLS:C4023681 hp.json http://purl.obolibrary.org/obo/HP_0010862 HP:0010861 biolink:PhenotypicFeature Incomplete breech presentation A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal. MSH:D001946|UMLS:C0426146|SNOMEDCT_US:38049006 hp.json http://purl.obolibrary.org/obo/HP_0010861 HP:0010860 biolink:PhenotypicFeature Complete breech presentation A kind of breech presentation in which the hips are flexed and the knees are flexed. UMLS:C0233283|SNOMEDCT_US:49168004|MSH:D001946 hp.json http://purl.obolibrary.org/obo/HP_0010860 HP:0007208 biolink:PhenotypicFeature Irregular myelin loops Presence of irregular redundant loops of focally folded myelin in a peripheral nerve. UMLS:C4024922 hp.json http://purl.obolibrary.org/obo/HP_0007208 HP:0007209 biolink:PhenotypicFeature Facial paralysis Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). UMLS:C0427055|MSH:D005158|UMLS:C0015469|SNOMEDCT_US:280816001|SNOMEDCT_US:95666008 hp.json Facial paralysis|Facial paresis http://purl.obolibrary.org/obo/HP_0007209 hposlim_core HP:0010869 biolink:PhenotypicFeature Asynergia A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. SNOMEDCT_US:77743009|UMLS:C0234355 hp.json http://purl.obolibrary.org/obo/HP_0010869 HP:0010868 biolink:PhenotypicFeature Ocular dyssynergia A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field. UMLS:C4023680 hp.json http://purl.obolibrary.org/obo/HP_0010868 HP:0007204 biolink:PhenotypicFeature Diffuse white matter abnormalities UMLS:C4024923 hp.json http://purl.obolibrary.org/obo/HP_0007204 HP:0010867 biolink:PhenotypicFeature Dyssynergia A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. UMLS:C0004134|SNOMEDCT_US:39384006|MSH:D001259|SNOMEDCT_US:20262006 hp.json http://purl.obolibrary.org/obo/HP_0010867 HP:0010866 biolink:PhenotypicFeature Abdominal wall defect An incomplete closure of the abdominal wall. UMLS:C0238577 hp.json Abdominal wall defect|Congenital anterior abdominal wall defect http://purl.obolibrary.org/obo/HP_0010866 HP:0007206 biolink:PhenotypicFeature Hemimegalencephaly Enlargement of all or parts of one cerebral hemisphere. UMLS:C0431391|MSH:D065705|SNOMEDCT_US:253170008 hp.json http://purl.obolibrary.org/obo/HP_0007206 HP:0010865 biolink:PhenotypicFeature Oppositional defiant disorder An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents. SNOMEDCT_US:18941000|UMLS:C0029121|MSH:D019958 hp.json http://purl.obolibrary.org/obo/HP_0010865 HP:0010864 biolink:PhenotypicFeature Intellectual disability, severe Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. SNOMEDCT_US:40700009|UMLS:C0036857 hp.json Early and severe mental retardation|Severe mental retardation|Mental retardation, severe|Intellectual disability, severe http://purl.obolibrary.org/obo/HP_0010864 HP:0007207 biolink:PhenotypicFeature Photosensitive tonic-clonic seizure Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. UMLS:C1846131 hp.json Seizures, tonic-clonic, photosensitive|Photically induced tonic-clonic seizure|Photosensitive tonic-clonic seizures http://purl.obolibrary.org/obo/HP_0007207 HP:0007200 biolink:PhenotypicFeature Episodic hypersomnia UMLS:C4024925 hp.json http://purl.obolibrary.org/obo/HP_0007200 HP:0007201 biolink:PhenotypicFeature Cerebral artery atherosclerosis Atherosclerosis (HP:0002621) of a cerebral artery. UMLS:C4024924 hp.json Plaque build-up in cerebral artery http://purl.obolibrary.org/obo/HP_0007201 UBERON:0000400 biolink:AnatomicalEntity jejunal epithelium An epithelium that is part of a jejunum. CALOHA:TS-0494|MA:0003215|FMA:17232|BTO:0001743|EMAPA:18668 hp.json epithelium of jejunum http://purl.obolibrary.org/obo/UBERON_0000400 human_reference_atlas UBERON:0000401 biolink:AnatomicalEntity mandibular ramus The upturned perpendicular extremity of the mandible. EMAPA:25100|BTO:0001751|MA:0002815|FMA:52828 hp.json lower ramus|rami mandibulae|ramus mandibulae|mandible ramus|ramus mandibulae|ramus of mandible http://purl.obolibrary.org/obo/UBERON_0000401 pheno_slim HP:0010852 biolink:PhenotypicFeature EEG with photoparoxysmal response EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. UMLS:C3552821 hp.json Photoparoxysmal response on EEG http://purl.obolibrary.org/obo/HP_0010852 HP:0010851 biolink:PhenotypicFeature EEG with burst suppression The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. UMLS:C1969156 hp.json http://purl.obolibrary.org/obo/HP_0010851 HP:0010850 biolink:PhenotypicFeature EEG with spike-wave complexes Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). UMLS:C4023683 hp.json http://purl.obolibrary.org/obo/HP_0010850 HP:0010859 biolink:PhenotypicFeature Frank breech presentation A kind of breech presentation in which the hips are flexed and the knees are extended. SNOMEDCT_US:18559007|MSH:D001946|UMLS:C0233286 hp.json http://purl.obolibrary.org/obo/HP_0010859 HP:0010858 biolink:PhenotypicFeature EEG with hyperventilation-induced epileptiform discharges Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). UMLS:C4023682 hp.json http://purl.obolibrary.org/obo/HP_0010858 HP:0010857 biolink:PhenotypicFeature EEG with periodic abnormalities Periodically recurring abnormalities in the EEG. UMLS:C4021211 hp.json EEG: periodic abnormalities http://purl.obolibrary.org/obo/HP_0010857 HP:0007215 biolink:PhenotypicFeature Periodic hyperkalemic paralysis Episodes of muscle weakness associated with elevated levels of potassium in the blood. SNOMEDCT_US:304737009|UMLS:C0238357|MSH:D020513 hp.json Hyperkalemic periodic paralysis http://purl.obolibrary.org/obo/HP_0007215 HP:0010856 biolink:PhenotypicFeature EEG with periodic complexes Periodically occurring generalized periodic complexes. UMLS:C4021212 hp.json EEG: periodic complexes|Radermecker complexes http://purl.obolibrary.org/obo/HP_0010856 HP:0009878 biolink:PhenotypicFeature Cerebellar ataxia associated with quadrupedal gait The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight). UMLS:C4024175 hp.json http://purl.obolibrary.org/obo/HP_0009878 HP:0010855 biolink:PhenotypicFeature EEG with localized low amplitude activity An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). UMLS:C4021213 hp.json EEG with localised low amplitude activity|EEG: localised low amplitude activity http://purl.obolibrary.org/obo/HP_0010855 HP:0010854 biolink:PhenotypicFeature EEG with generalized low amplitude activity An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). UMLS:C4021214 hp.json EEG with generalised low amplitude activity|EEG: generalised low amplitude activity http://purl.obolibrary.org/obo/HP_0010854 HP:0009879 biolink:PhenotypicFeature Simplified gyral pattern An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. UMLS:C2749675 hp.json Cortical gyral simplification http://purl.obolibrary.org/obo/HP_0009879 HP:0010853 biolink:PhenotypicFeature EEG with periodic lateralized epileptiform discharges Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds). UMLS:C4021215 hp.json EEG: periodic lateralized epileptiform discharges http://purl.obolibrary.org/obo/HP_0010853 HP:0009875 biolink:PhenotypicFeature Triangular shaped distal phalanges of the hand UMLS:C4024176 hp.json Triangular shaped outermost bone of the hand http://purl.obolibrary.org/obo/HP_0009875 HP:0007210 biolink:PhenotypicFeature Lower limb amyotrophy Muscular atrophy affecting the lower limb. UMLS:C4024921 hp.json http://purl.obolibrary.org/obo/HP_0007210 GO:0050668 biolink:BiologicalProcess positive regulation of homocysteine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. hp.json upregulation of homocysteine metabolic process|positive regulation of Hcy metabolic process|stimulation of homocysteine metabolic process|up regulation of homocysteine metabolic process|positive regulation of Hcy metabolism|positive regulation of homocysteine metabolism|activation of homocysteine metabolic process|up-regulation of homocysteine metabolic process http://purl.obolibrary.org/obo/GO_0050668 GO:0050669 biolink:BiologicalProcess negative regulation of homocysteine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. hp.json negative regulation of homocysteine metabolism|down regulation of homocysteine metabolic process|inhibition of homocysteine metabolic process|down-regulation of homocysteine metabolic process|negative regulation of Hcy metabolism|negative regulation of Hcy metabolic process|downregulation of homocysteine metabolic process http://purl.obolibrary.org/obo/GO_0050669 GO:0050666 biolink:BiologicalProcess regulation of homocysteine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. hp.json regulation of Hcy metabolic process|regulation of Hcy metabolism|regulation of homocysteine metabolism http://purl.obolibrary.org/obo/GO_0050666 GO:0050667 biolink:BiologicalProcess homocysteine metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. hp.json homocysteine metabolism|Hcy metabolism|Hcy metabolic process http://purl.obolibrary.org/obo/GO_0050667 GO:1902414 biolink:BiologicalProcess protein localization to cell junction A process in which a protein is transported to, or maintained in, a location within a cell junction. hp.json protein localization in cell junction|protein localisation to cell junction|protein localisation in cell junction http://purl.obolibrary.org/obo/GO_1902414 CL:0002308 biolink:Cell epithelial cell of skin gland An epithelial cell of a skin gland. FMA:70657 hp.json epithelial cell of gland of skin http://purl.obolibrary.org/obo/CL_0002308 GO:0098609 biolink:BiologicalProcess cell-cell adhesion The attachment of one cell to another cell via adhesion molecules. hp.json single organismal cell-cell adhesion http://purl.obolibrary.org/obo/GO_0098609 CHEBI:142163 biolink:ChemicalSubstance 24G7 epitope An antigenic epitope recognized by an anti-bilirubin monoclonal antibody designated 24G7. A substructure of bilirubin IXalpha, it is the region containing the oxo group at C-1, the methyl group at C-2, C-(4, 5, 6, 9), and N-21 and -22. hp.json http://purl.obolibrary.org/obo/CHEBI_142163 3_STAR GO:0050673 biolink:BiologicalProcess epithelial cell proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. hp.json http://purl.obolibrary.org/obo/GO_0050673 GO:0050679 biolink:BiologicalProcess positive regulation of epithelial cell proliferation Any process that activates or increases the rate or extent of epithelial cell proliferation. hp.json up-regulation of epithelial cell proliferation|up regulation of epithelial cell proliferation|activation of epithelial cell proliferation|stimulation of epithelial cell proliferation|upregulation of epithelial cell proliferation http://purl.obolibrary.org/obo/GO_0050679 GO:0050678 biolink:BiologicalProcess regulation of epithelial cell proliferation Any process that modulates the frequency, rate or extent of epithelial cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_0050678 CL:0002319 biolink:Cell neural cell A cell that is part of the nervous system. FMA:70333|CALOHA:TS-2040 hp.json http://purl.obolibrary.org/obo/CL_0002319 CL:0002312 biolink:Cell somatotroph An acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin. FMA:83095 hp.json somatrophic cell|somatotropic cell|somatotrope http://purl.obolibrary.org/obo/CL_0002312 GO:0050671 biolink:BiologicalProcess positive regulation of lymphocyte proliferation Any process that activates or increases the rate or extent of lymphocyte proliferation. hp.json upregulation of lymphocyte proliferation|up regulation of lymphocyte proliferation|stimulation of lymphocyte proliferation|up-regulation of lymphocyte proliferation|activation of lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0050671 GO:0050672 biolink:BiologicalProcess negative regulation of lymphocyte proliferation Any process that stops, prevents or reduces the rate or extent of lymphocyte proliferation. hp.json down regulation of lymphocyte proliferation|inhibition of lymphocyte proliferation|down-regulation of lymphocyte proliferation|downregulation of lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0050672 GO:0050670 biolink:BiologicalProcess regulation of lymphocyte proliferation Any process that modulates the frequency, rate or extent of lymphocyte proliferation. hp.json http://purl.obolibrary.org/obo/GO_0050670 GO:0023023 biolink:MolecularActivity MHC protein complex binding Binding to a major histocompatibility complex. hp.json http://purl.obolibrary.org/obo/GO_0023023 GO:0050687 biolink:BiologicalProcess negative regulation of defense response to virus Any process that stops, prevents or reduces the rate or extent of antiviral mechanisms, thereby facilitating viral replication. hp.json negative regulation of antiviral response|down regulation of antiviral response|inhibition of antiviral response|down-regulation of antiviral response|downregulation of antiviral response http://purl.obolibrary.org/obo/GO_0050687 GO:0023026 biolink:MolecularActivity MHC class II protein complex binding Binding to a class II major histocompatibility complex. hp.json http://purl.obolibrary.org/obo/GO_0023026 GO:0050688 biolink:BiologicalProcess regulation of defense response to virus Any process that modulates the frequency, rate or extent of the antiviral response of a cell or organism. hp.json regulation of antiviral response http://purl.obolibrary.org/obo/GO_0050688 GO:0050680 biolink:BiologicalProcess negative regulation of epithelial cell proliferation Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. hp.json down-regulation of epithelial cell proliferation|down regulation of epithelial cell proliferation|downregulation of epithelial cell proliferation|inhibition of epithelial cell proliferation http://purl.obolibrary.org/obo/GO_0050680 GO:0060004 biolink:BiologicalProcess reflex An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness. Wikipedia:Reflex hp.json http://purl.obolibrary.org/obo/GO_0060004 GO:0060005 biolink:NamedThing vestibular reflex hp.json http://purl.obolibrary.org/obo/GO_0060005 GO:0023019 biolink:BiologicalProcess signal transduction involved in regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another. hp.json regulation of gene expression as a consequence of signal transmission http://purl.obolibrary.org/obo/GO_0023019 GO:0098642 biolink:CellularComponent network-forming collagen trimer A collagen trimer that forms networks. hp.json http://purl.obolibrary.org/obo/GO_0098642 GO:0098643 biolink:CellularComponent banded collagen fibril A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). hp.json http://purl.obolibrary.org/obo/GO_0098643 GO:0098641 biolink:MolecularActivity cadherin binding involved in cell-cell adhesion Any cadherin binding that occurs as part of the process of cell-cell adhesion. hp.json http://purl.obolibrary.org/obo/GO_0098641 GO:0001696 biolink:BiologicalProcess gastric acid secretion The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. hp.json hydrochloric acid secretion http://purl.obolibrary.org/obo/GO_0001696 HP:0009809 biolink:PhenotypicFeature Abnormal upper limb metaphysis morphology An anomaly of one or more metaphyses of the arms. UMLS:C4021388 hp.json Abnormality of the wide portion of upper limb bone|Metaphyseal abnormality of the upper limbs|Abnormality of upper limb metaphysis http://purl.obolibrary.org/obo/HP_0009809 HP:0009808 biolink:PhenotypicFeature Anomaly of the upper limb diaphyses A structural abnormality of a diaphysis of the arm. UMLS:C4021389 hp.json Diaphyseal abnormality of the upper limbs|Abnormality of shaft of long bone of the upper limbs|Abnormality involving the diaphyses of the upper limbs http://purl.obolibrary.org/obo/HP_0009808 HP:0010805 biolink:PhenotypicFeature Upturned corners of mouth Oral commissures positioned superior to the midline labial fissure. UMLS:C3553471 hp.json Upturned oral commisures|Upturned corners of mouth|Upturned mouth http://purl.obolibrary.org/obo/HP_0010805 hposlim_core HP:0009805 biolink:PhenotypicFeature Low-output congestive heart failure A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. UMLS:C4024201 hp.json http://purl.obolibrary.org/obo/HP_0009805 HP:0010804 biolink:PhenotypicFeature Tented upper lip vermilion Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. UMLS:C1839767|UMLS:C1853383|UMLS:C1850072 hp.json Tented mouth|Inverted V-shaped upper lip|Tented upper lip http://purl.obolibrary.org/obo/HP_0010804 hposlim_core HP:0009804 biolink:PhenotypicFeature Tooth agenesis The absence of one or more teeth from the normal series by a failure to develop UMLS:C4024202|UMLS:C4083050 hp.json Reduced number of teeth|Missing some teeth|Teeth, agenesis|Failure of development of some teeth|Fewer teeth than normal|Decreased tooth count|Dental agenesis|Decreased number of teeth http://purl.obolibrary.org/obo/HP_0009804 HP:0010803 biolink:PhenotypicFeature Everted upper lip vermilion Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. UMLS:C4280363|UMLS:C4023698|UMLS:C3275452 hp.json Eclabium of upper lip|Everted upper lip|Protruding upper lip|Outward turned upper lip|Everted prominent upper lip|Drooping upper lip http://purl.obolibrary.org/obo/HP_0010803 hposlim_core HP:0010802 biolink:PhenotypicFeature Perioral hyperpigmentation Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. UMLS:C4023699 hp.json Darkening of skin around the mouth|Increased pigmentation around the mouth http://purl.obolibrary.org/obo/HP_0010802 HP:0009806 biolink:PhenotypicFeature Nephrogenic diabetes insipidus A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP). MSH:D018500|UMLS:C0162283|SNOMEDCT_US:111395007 hp.json http://purl.obolibrary.org/obo/HP_0009806 GO:0060037 biolink:BiologicalProcess pharyngeal system development The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear. hp.json http://purl.obolibrary.org/obo/GO_0060037 HP:0010801 biolink:PhenotypicFeature Underdeveloped nasolabial fold Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). UMLS:C4021227 hp.json Nasolabial fold, hypoplastic|Nasolabial crease, underdeveloped|Flat nasolabial fold|Shallow nasolabial fold|Nasolabial crease, hypoplastic http://purl.obolibrary.org/obo/HP_0010801 hposlim_core GO:0060038 biolink:BiologicalProcess cardiac muscle cell proliferation The expansion of a cardiac muscle cell population by cell division. hp.json heart muscle cell proliferation|cardiac myocyte proliferation|cardiomyocyte proliferation http://purl.obolibrary.org/obo/GO_0060038 HP:0010800 biolink:PhenotypicFeature Absent cupid's bow Lack of paramedian peaks and median notch of the upper lip vermilion. UMLS:C2053435 hp.json Lack of cupid's bow|Absent cupid's bow|Missing cupid's bow|Agenesis of cupid's bow|Failure of development of cupid's bow|Aplasia of cupid's bow http://purl.obolibrary.org/obo/HP_0010800 hposlim_core HP:0009800 biolink:PhenotypicFeature Maternal diabetes Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. UMLS:C4020778|UMLS:C0085207|SNOMEDCT_US:11687002|MSH:D016640 hp.json gestational diabetes|Maternal diabetes|maternal hyperglycemia http://purl.obolibrary.org/obo/HP_0009800 GO:0060039 biolink:BiologicalProcess pericardium development The process whose specific outcome is the progression of the pericardium over time, from its formation to the mature structure. The pericardium is a double-walled sac that contains the heart and the roots of the aorta, vena cava and the pulmonary artery. hp.json http://purl.obolibrary.org/obo/GO_0060039 HP:0009803 biolink:PhenotypicFeature Short phalanx of finger Short (hypoplastic) phalanx of finger, affecting one or more phalanges. UMLS:C0877165 hp.json Shortened phalanges|Rudimentary phalanges|Hypoplastic phalanges of hands|Hypoplastic phalanges|Hypoplastic/small phalanges of the hand|Short finger bones|Short phalanges|Phalangeal hypoplasia http://purl.obolibrary.org/obo/HP_0009803 HP:0009802 biolink:PhenotypicFeature Aplasia of the phalanges of the hand Absence of one or more of the phalanges of the hand. UMLS:C4280393|UMLS:C4024203 hp.json Absent finger bone of the hand http://purl.obolibrary.org/obo/HP_0009802 HP:0010809 biolink:PhenotypicFeature Broad uvula Increased width of the uvula (subjective finding). UMLS:C3693299 hp.json Wide uvula http://purl.obolibrary.org/obo/HP_0010809 hposlim_core HP:0010808 biolink:PhenotypicFeature Protruding tongue Tongue extending beyond the alveolar ridges or teeth at rest. SNOMEDCT_US:249872000|UMLS:C0241442|SNOMEDCT_US:285503005 hp.json Prominent tongue|Protruding tongue|Lingual prolapse|Lingual prominence|Lingual protrusion|Tongue protrusion|Tongue sticking out of mouth|Prolapse of tongue http://purl.obolibrary.org/obo/HP_0010808 hposlim_core HP:0010807 biolink:PhenotypicFeature Open bite Visible space between the dental arches in occlusion. SNOMEDCT_US:35580009|UMLS:C0266061|MSH:D024343 hp.json Open bite|Open bite between upper and lower teeth|Absence of overlap of upper and lower teeth http://purl.obolibrary.org/obo/HP_0010807 hposlim_core GO:0098644 biolink:CellularComponent complex of collagen trimers A complex of collagen trimers such as a fibril or collagen network. hp.json Supramolecular collagen assembly|Supramolecular aggregate of collagen http://purl.obolibrary.org/obo/GO_0098644 HP:0010806 biolink:PhenotypicFeature U-Shaped upper lip vermilion Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. UMLS:C1856202 hp.json Carp-like mouth|Large, carp-shaped mouth|Carp-shaped mouth|Wide, carp-shaped mouth|Fish mouth http://purl.obolibrary.org/obo/HP_0010806 GO:0098645 biolink:CellularComponent collagen network A supramolecular complex that consists of collagen triple helices associated to form a network. hp.json http://purl.obolibrary.org/obo/GO_0098645 GO:0072001 biolink:BiologicalProcess renal system development The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels. hp.json urinary tract development|urinary system development http://purl.obolibrary.org/obo/GO_0072001 gocheck_do_not_annotate GO:0098651 biolink:CellularComponent basement membrane collagen trimer Any collagen timer that is part of a basement membrane. hp.json http://purl.obolibrary.org/obo/GO_0098651 HP:0009819 biolink:PhenotypicFeature Lower limb phocomelia Phocomelia affecting only the lower limbs. UMLS:C0265625|SNOMEDCT_US:253963009 hp.json http://purl.obolibrary.org/obo/HP_0009819 GO:1902463 biolink:BiologicalProcess protein localization to cell leading edge A process in which a protein is transported to, or maintained in, a location within a cell leading edge. hp.json protein localization in cell leading edge|protein localisation to cell leading edge|protein localisation in cell leading edge http://purl.obolibrary.org/obo/GO_1902463 HP:0009816 biolink:PhenotypicFeature Lower limb undergrowth Leg shortening because of underdevelopment of one or more bones of the lower extremity. UMLS:C0345371|SNOMEDCT_US:253959002 hp.json Lower limb undergrowth|Underdeveloped lower limb bones|Hypoplasia of the lower limbs|Hypoplasia involving bones of the lower limbs http://purl.obolibrary.org/obo/HP_0009816 GO:1902473 biolink:BiologicalProcess regulation of protein localization to synapse Any process that modulates the frequency, rate or extent of protein localization to synapse. hp.json regulation of protein localisation to synapse http://purl.obolibrary.org/obo/GO_1902473 HP:0009815 biolink:PhenotypicFeature Aplasia/hypoplasia of the extremities Absence (due to failure to form) or underdevelopment of the extremities. UMLS:C0239399 hp.json Absent/underdeveloped extremities|Shortened limbs|Short or absent limbs|Absent/small extremities http://purl.obolibrary.org/obo/HP_0009815 HP:0009818 biolink:PhenotypicFeature Amelia involving the lower limbs Amelia of one or both legs. UMLS:C4024197 hp.json http://purl.obolibrary.org/obo/HP_0009818 HP:0009817 biolink:PhenotypicFeature Aplasia involving bones of the lower limbs UMLS:C4024198 hp.json Absent bones of the lower limbs http://purl.obolibrary.org/obo/HP_0009817 HP:0009812 biolink:PhenotypicFeature Amelia involving the upper limbs Amelia of one or both upper limbs. UMLS:C4024200 hp.json http://purl.obolibrary.org/obo/HP_0009812 HP:0009811 biolink:PhenotypicFeature Abnormality of the elbow An anomaly of the joint that connects the upper and the lower arm. UMLS:C4021386 hp.json Abnormality of the elbows|Abnormality of the elbow http://purl.obolibrary.org/obo/HP_0009811 hposlim_core HP:0009814 biolink:PhenotypicFeature Upper limb peromelia Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. UMLS:C4024199 hp.json http://purl.obolibrary.org/obo/HP_0009814 HP:0009813 biolink:PhenotypicFeature Upper limb phocomelia Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). SNOMEDCT_US:253926000|UMLS:C0265573 hp.json http://purl.obolibrary.org/obo/HP_0009813 HP:0009810 biolink:PhenotypicFeature Abnormality of upper limb joint UMLS:C4021387 hp.json Abnormality of upper limb joint|Abnormality of the joints of the upper limbs http://purl.obolibrary.org/obo/HP_0009810 GO:0098657 biolink:BiologicalProcess import into cell The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. hp.json uptake http://purl.obolibrary.org/obo/GO_0098657 GO:0098655 biolink:BiologicalProcess cation transmembrane transport The process in which a cation is transported across a membrane. hp.json ATP hydrolysis coupled cation transmembrane transport http://purl.obolibrary.org/obo/GO_0098655 GO:0098656 biolink:BiologicalProcess anion transmembrane transport The process in which an anion is transported across a membrane. hp.json ATP hydrolysis coupled anion transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 GO:0001676 biolink:BiologicalProcess long-chain fatty acid metabolic process The chemical reactions and pathways involving long-chain fatty acids, A long-chain fatty acid is a fatty acid with a chain length between C13 and C22. hp.json long-chain fatty acid metabolism http://purl.obolibrary.org/obo/GO_0001676 GO:0001677 biolink:BiologicalProcess formation of translation initiation ternary complex Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). hp.json translation initiation ternary complex assembly http://purl.obolibrary.org/obo/GO_0001677 GO:0001674 biolink:CellularComponent female germ cell nucleus The nucleus of the female germ cell, a reproductive cell in females. hp.json female germ-cell nucleus http://purl.obolibrary.org/obo/GO_0001674 GO:0060050 biolink:BiologicalProcess positive regulation of protein glycosylation Any process that activates or increases the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. hp.json positive regulation of protein amino acid glycosylation http://purl.obolibrary.org/obo/GO_0060050 GO:0060051 biolink:BiologicalProcess negative regulation of protein glycosylation Any process that stops, prevents, or reduces the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. hp.json negative regulation of protein amino acid glycosylation http://purl.obolibrary.org/obo/GO_0060051 GO:1902474 biolink:BiologicalProcess positive regulation of protein localization to synapse Any process that activates or increases the frequency, rate or extent of protein localization to synapse. hp.json upregulation of protein localisation to synapse|up-regulation of protein localization to synapse|up regulation of protein localization to synapse|activation of protein localization to synapse|up-regulation of protein localisation to synapse|upregulation of protein localization to synapse|up regulation of protein localisation to synapse|activation of protein localisation to synapse|positive regulation of protein localisation to synapse http://purl.obolibrary.org/obo/GO_1902474 GO:1902475 biolink:BiologicalProcess L-alpha-amino acid transmembrane transport The directed movement of L-alpha-amino acid across a membrane. hp.json http://purl.obolibrary.org/obo/GO_1902475 GO:0098631 biolink:MolecularActivity cell adhesion mediator activity The binding by a cell-adhesion protein on a cell surface to an adhesion molecule on another cell surface, to mediate adhesion of the cell to the external substrate or to another cell. hp.json protein binding involved in cell adhesion|cell adhesion molecule http://purl.obolibrary.org/obo/GO_0098631 goslim_generic OBO:nbo#has_participant biolink:NamedThing has_participant hp.json http://purl.obolibrary.org/obo/nbo#has_participant GO:0098632 biolink:MolecularActivity cell-cell adhesion mediator activity The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell. hp.json protein binding involved in cell-cell adhesion|cell-cell adhesion molecule http://purl.obolibrary.org/obo/GO_0098632 GO:0060041 biolink:BiologicalProcess retina development in camera-type eye The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. hp.json retinal development|retina development in camera-style eye http://purl.obolibrary.org/obo/GO_0060041 GO:0060042 biolink:BiologicalProcess retina morphogenesis in camera-type eye The process in which the anatomical structure of the retina is generated and organized. hp.json retina morphogenesis in camera-style eye|retinogenesis http://purl.obolibrary.org/obo/GO_0060042 GO:0060043 biolink:BiologicalProcess regulation of cardiac muscle cell proliferation Any process that modulates the frequency, rate or extent of cardiac muscle cell proliferation. hp.json regulation of heart muscle cell proliferation|regulation of cardiomyocyte proliferation http://purl.obolibrary.org/obo/GO_0060043 GO:0060044 biolink:BiologicalProcess negative regulation of cardiac muscle cell proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle cell proliferation. hp.json negative regulation of heart muscle cell proliferation http://purl.obolibrary.org/obo/GO_0060044 GO:1902494 biolink:CellularComponent catalytic complex A protein complex which is capable of catalytic activity. hp.json enzyme complex http://purl.obolibrary.org/obo/GO_1902494 goslim_metagenomics GO:0060045 biolink:BiologicalProcess positive regulation of cardiac muscle cell proliferation Any process that activates or increases the frequency, rate or extent of cardiac muscle cell proliferation. hp.json positive regulation of heart muscle cell proliferation http://purl.obolibrary.org/obo/GO_0060045 GO:0060047 biolink:BiologicalProcess heart contraction The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. hp.json heart beating|cardiac contraction|hemolymph circulation http://purl.obolibrary.org/obo/GO_0060047 GO:1902492 biolink:NamedThing positive regulation of sperm capacitation hp.json http://purl.obolibrary.org/obo/GO_1902492 GO:0060048 biolink:BiologicalProcess cardiac muscle contraction Muscle contraction of cardiac muscle tissue. hp.json heart muscle contraction http://purl.obolibrary.org/obo/GO_0060048 GO:0060049 biolink:BiologicalProcess regulation of protein glycosylation Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. hp.json regulation of protein amino acid glycosylation http://purl.obolibrary.org/obo/GO_0060049 GO:1902490 biolink:NamedThing regulation of sperm capacitation hp.json http://purl.obolibrary.org/obo/GO_1902490 GO:1902491 biolink:NamedThing negative regulation of sperm capacitation hp.json http://purl.obolibrary.org/obo/GO_1902491 GO:0098635 biolink:CellularComponent protein complex involved in cell-cell adhesion Any protein complex that is capable of carrying out some part of the process of cell-cell adhesion. hp.json http://purl.obolibrary.org/obo/GO_0098635 GO:0098636 biolink:CellularComponent protein complex involved in cell adhesion Any protein complex that is capable of carrying out some part of the process of cell adhesion to the cell matrix or to another cell. hp.json cell adhesion complex http://purl.obolibrary.org/obo/GO_0098636 GO:0098633 biolink:MolecularActivity collagen fibril binding Binding to a collagen fibril. hp.json http://purl.obolibrary.org/obo/GO_0098633 HP:0032192 biolink:PhenotypicFeature Hydatidiform mole Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast. hp.json http://purl.obolibrary.org/obo/HP_0032192 HP:0032193 biolink:PhenotypicFeature Decreased low-density lipoprotein particle size An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032193 HP:0032195 biolink:PhenotypicFeature Abnormal S wave Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart. hp.json http://purl.obolibrary.org/obo/HP_0032195 HP:0032190 biolink:PhenotypicFeature Abnormal meniscus morphology Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement. hp.json http://purl.obolibrary.org/obo/HP_0032190 HP:0032191 biolink:PhenotypicFeature Torn meniscus A tear in the cartilaginous pad (meniscus) of the knee. hp.json http://purl.obolibrary.org/obo/HP_0032191 HP:0032196 biolink:PhenotypicFeature Prominent S wave in lead I Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram. hp.json http://purl.obolibrary.org/obo/HP_0032196 HP:0032197 biolink:PhenotypicFeature Deep S wave in lead V5 Abnormal depth of the S wave in lead V5 of the electrocardiogram. hp.json http://purl.obolibrary.org/obo/HP_0032197 HP:0032198 biolink:PhenotypicFeature Decreased prothrombin time Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. hp.json Decreased international normalized ratio|Decreased INR|Decreased international normalised ratio|Decreased PT http://purl.obolibrary.org/obo/HP_0032198 HP:0032199 biolink:PhenotypicFeature Abnormal prothrombin time Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. hp.json Abnormal PT http://purl.obolibrary.org/obo/HP_0032199 HP:0020192 biolink:PhenotypicFeature Pachygyria with 5-10 mm cortical thickness Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. hp.json http://purl.obolibrary.org/obo/HP_0020192 HP:0020191 biolink:PhenotypicFeature Anterior predominant thick cortex pachygyria Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. hp.json Pachygyria with cortical thickness > 10 mm anterior predominant http://purl.obolibrary.org/obo/HP_0020191 HP:0020194 biolink:PhenotypicFeature IgA heavy chain paraproteinemia An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp.json Alpha heavy chain disease http://purl.obolibrary.org/obo/HP_0020194 HP:0020193 biolink:PhenotypicFeature Prolonged reptilase time An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds. hp.json http://purl.obolibrary.org/obo/HP_0020193 HP:0020190 biolink:PhenotypicFeature Perisylvian predominant thick cortex pachygyria Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. hp.json Pachygyria with cortical thickness > 10 mm perisylvian predominant http://purl.obolibrary.org/obo/HP_0020190 CHEBI:25629 biolink:ChemicalSubstance octadecanoate A fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). Stearates have a variety of uses in the pharmaceutical industry. Gmelin:344065|PMID:19184617|Beilstein:3590530|Reaxys:3590530|MetaCyc:STEARIC_ACID|KEGG:C01530|PMID:7452460|CAS:646-29-7|PMID:3180776|PMID:16401590 hp.json stearic acid, ion(1-)|CH3-[CH2]16-COO(-)|octadecanoic acid, ion(1-)|octadecanoate|Stearate|octadecanoate|stearate http://purl.obolibrary.org/obo/CHEBI_25629 3_STAR HP:0020199 biolink:PhenotypicFeature Decreased circulating 18-hydroxycortisone level A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0020199 HP:0020196 biolink:PhenotypicFeature IgM heavy chain paraproteinemia An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp.json http://purl.obolibrary.org/obo/HP_0020196 HP:0020195 biolink:PhenotypicFeature IgG heavy chain paraproteinemia An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp.json Gamma heavy-chain disease http://purl.obolibrary.org/obo/HP_0020195 HP:0020198 biolink:PhenotypicFeature Abnormal circulating 18-hydroxycorticosterone level Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0020198 HP:0020197 biolink:PhenotypicFeature Increased circulating arachidonic acid concentration An increased circulation of arachidonic acid in the blood circulation. hp.json Increased circulating arachidonate level|Increased circulating arachidonic acid level http://purl.obolibrary.org/obo/HP_0020197 CL:0002364 biolink:Cell cortical thymic epithelial cell An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. BTO:0004562 hp.json cTEC http://purl.obolibrary.org/obo/CL_0002364 HP:0020181 biolink:PhenotypicFeature Reduced haptoglobin level An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state. hp.json http://purl.obolibrary.org/obo/HP_0020181 CL:0002363 biolink:Cell keratocyte A keratocyte is a specialized fibroblast residing in the cornea stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate. hp.json corneal fibroblast|corneal keratocyte http://purl.obolibrary.org/obo/CL_0002363 HP:0020180 biolink:PhenotypicFeature Elevated haptoglobin level An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation. hp.json http://purl.obolibrary.org/obo/HP_0020180 HP:0020183 biolink:PhenotypicFeature Increased circulating A-type natriuretic peptide level A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. hp.json http://purl.obolibrary.org/obo/HP_0020183 HP:0020182 biolink:PhenotypicFeature Abnormal A-type atrial natriuretic peptide level A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. hp.json http://purl.obolibrary.org/obo/HP_0020182 CL:0002368 biolink:Cell respiratory epithelial cell An endo-epithelial cell of the respiratory tract. BTO:0004533 hp.json airway epithelial cell http://purl.obolibrary.org/obo/CL_0002368 CL:0002367 biolink:Cell trabecular meshwork cell A cell that lines the trabecular meshwork, which is an area of tissue in the eye located around the base of the cornea, near the ciliary body, and is responsible for draining the aqueous humor from the eye via the anterior chamber (the chamber on the front of the eye covered by the cornea). This cell may play a role in regulating intraocular pressure. hp.json trabeculocyte http://purl.obolibrary.org/obo/CL_0002367 CHEBI:13643 biolink:ChemicalSubstance glycol A diol in which the two hydroxy groups are on different carbon atoms, usually but not necessarily adjacent. hp.json glycols|Glykol http://purl.obolibrary.org/obo/CHEBI_13643 3_STAR HP:0020189 biolink:PhenotypicFeature Posterior predominant thick cortex pachygyria Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. hp.json Occipital predomimant classic pachygyria|Pachygyria with cortical thickness over 10 mm posterior predominant http://purl.obolibrary.org/obo/HP_0020189 PR:000002976 biolink:Protein Ly-6-like protein A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). PIRSF:PIRSF002021 hp.json http://purl.obolibrary.org/obo/PR_000002976 GO:0035082 biolink:BiologicalProcess axoneme assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. hp.json ciliary axoneme assembly|cilium axoneme biogenesis|flagellar axoneme assembly|cilium axoneme assembly|axoneme biogenesis|flagellum axoneme assembly http://purl.obolibrary.org/obo/GO_0035082 HP:0020188 biolink:PhenotypicFeature Anterior predominant pachygyria with 5-10 mm cortical thickness Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. hp.json http://purl.obolibrary.org/obo/HP_0020188 PR:000002978 biolink:Protein lymphocyte antigen 6G An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. hp.json Ly-6G.1|Ly-6G|Ly6g http://purl.obolibrary.org/obo/PR_000002978 PR:000002977 biolink:Protein killer cell lectin-like receptor subfamily B member 1C A KLRB1-like protein that is a translation product of the mouse Klrb1c gene or a 1:1 ortholog thereof. hp.json natural killer cell surface protein P1-40|CD161c|NK1.1|CD161 antigen-like family member C|Klrb1c|NKR-P1.9|Nkrp1c|ly-55c|NKR-P1 40|lymphocyte antigen 55c|Ly55c|NKR-P1C http://purl.obolibrary.org/obo/PR_000002977 HP:0020185 biolink:PhenotypicFeature Superior cerebellar dysplasia Abnormal morphological development of the superior part of the cerebellum. hp.json http://purl.obolibrary.org/obo/HP_0020185 UBERON:8000009 biolink:AnatomicalEntity Purkinje fiber network A collection of Purkinje fibers that receives signals from the right and left bundle branches and innervates the ventricular cardiac muscle. The Purkinje fiber network creates synchronized contractions of the heart ventricles. hp.json Purkinje fibre network http://purl.obolibrary.org/obo/UBERON_8000009 PR:000002979 biolink:Protein lymphocyte antigen 6A-2/6E-1 An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. hp.json Ly6a|stem cell antigen 1|T-cell-activating protein|Ly-6A.2/Ly-6E.1|SCA-1|Ly6|TAP http://purl.obolibrary.org/obo/PR_000002979 HP:0020184 biolink:PhenotypicFeature Decreased circulating A-type natriuretic peptide level A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. hp.json http://purl.obolibrary.org/obo/HP_0020184 HP:0020187 biolink:PhenotypicFeature Thick pachygyria Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. hp.json Pachygyria with cortical thickness > 10 mm|Pachygyria with cortical thickness above 10 mm http://purl.obolibrary.org/obo/HP_0020187 UBERON:8000006 biolink:AnatomicalEntity left side of back Left part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. hp.json http://purl.obolibrary.org/obo/UBERON_8000006 UBERON:8000007 biolink:AnatomicalEntity right side of back Right part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. hp.json http://purl.obolibrary.org/obo/UBERON_8000007 HP:0020186 biolink:PhenotypicFeature Multilobulated spleen The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen. hp.json Multi-lobulated spleen http://purl.obolibrary.org/obo/HP_0020186 GO:0106064 biolink:BiologicalProcess regulation of cobalamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. hp.json http://purl.obolibrary.org/obo/GO_0106064 UBERON:0012490 biolink:AnatomicalEntity muscle layer of anal canal A muscular coat that is part of a anal canal. FMA:15708|SCTID:362171000 hp.json muscular coat of anal canal|muscularis externa of anal canal|muscularis propria of anal canal|anal muscularis propria|anal canal muscularis propria|muscular layer of anal canal http://purl.obolibrary.org/obo/UBERON_0012490 UBERON:0012499 biolink:AnatomicalEntity serosa of uterine tube A serous membrane that is part of a fallopian tube. SCTID:259593000|FMA:18316 hp.json serosa of fallopian tube|serosa of oviduct|tunica serosa (tuba uterina)|uterine tube serosa|uterine tubal serosa|serous coat of uterine tube|tunica serosa tubae uterinae http://purl.obolibrary.org/obo/UBERON_0012499 human_reference_atlas HP:0020170 biolink:PhenotypicFeature Increased blood drug concentration High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. hp.json Increased serum drug concentration|Increased plasma drug concentration|Elevated blood drug concentration|Elevated serum drug concentrations|Elevated plasma drug concentration http://purl.obolibrary.org/obo/HP_0020170 CL:0002375 biolink:Cell Schwann cell precursor A giioblast cell that develops from a migratory neural crest cell. The SCP is embedded among neurons (axons) with minimal extracellular spaces separating them from nerve cell membranes and has no basal lamina. In rodents SCPs are the only cells in the Schwann cell linage that expresses Cdh19. hp.json Schwann cell precursor cell http://purl.obolibrary.org/obo/CL_0002375 CL:0002377 biolink:Cell immature Schwann cell A glial cell that develops from a Schwann cell precursor. The immature Schwann cell is embedded among neurons (axons) with minimal extracellular spaces separating them from nerve cell membranes and has a basal lamina. Cells can survive without an axon present. Immature Schwann cell can be found communally ensheathing large groups of axons. ZFA:0001725 hp.json Schwann cell http://purl.obolibrary.org/obo/CL_0002377 PR:000002981 biolink:Protein lymphocyte antigen 76 (mouse) A protein that is a translation product of the Ly76 gene in mouse. hp.json ter-119|mLy76|ter119 http://purl.obolibrary.org/obo/PR_000002981 HP:0020172 biolink:PhenotypicFeature Adverse drug response An unpleasant or harmful reaction resulting from treatment with a drug. hp.json Drug-induced response|Adverse drug reaction|Drug-induced reaction|Toxic drug response http://purl.obolibrary.org/obo/HP_0020172 HP:0020171 biolink:PhenotypicFeature Decreased blood drug concentration Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. hp.json Reduced blood drug concentration|Decreased plasma drug concentration|Decreased serum drug concentration|Reduced serum drug concentrations|Reduced plasma drug concentration http://purl.obolibrary.org/obo/HP_0020171 HP:0020178 biolink:PhenotypicFeature Abnormal dendritic cell count A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). hp.json http://purl.obolibrary.org/obo/HP_0020178 HP:0020177 biolink:PhenotypicFeature Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. hp.json Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated http://purl.obolibrary.org/obo/HP_0020177 HP:0020179 biolink:PhenotypicFeature Abnormal haptoglobin level A deviation from the normal concentration of haptoglobin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0020179 CL:0002371 biolink:Cell somatic cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). WBbt:0008378|FMA:72300|BTO:0001268 hp.json http://purl.obolibrary.org/obo/CL_0002371 _upper_level HP:0020174 biolink:PhenotypicFeature Refractory drug response Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course. hp.json Drug resistance http://purl.obolibrary.org/obo/HP_0020174 HP:0020173 biolink:PhenotypicFeature Reduced drug efficacy Decreased response to a drug intervention in comparison to the expected response. hp.json Decreased drug efficacy http://purl.obolibrary.org/obo/HP_0020173 HP:0020176 biolink:PhenotypicFeature Cholesterol crystalluria hp.json http://purl.obolibrary.org/obo/HP_0020176 CL:0002372 biolink:Cell myotube A transversely striated, synctial muscle cell, formed by the fusion of myoblasts. hp.json myotubule|single cell sarcomere http://purl.obolibrary.org/obo/CL_0002372 HP:0020175 biolink:PhenotypicFeature Reduced cholinesterase level A decreased amount of cholinesterase in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0020175 HP:0032150 biolink:PhenotypicFeature Paroxysmal rectal pain Excruciating burning pain in the rectal area that may be triggered by defecation. hp.json http://purl.obolibrary.org/obo/HP_0032150 HP:0032151 biolink:PhenotypicFeature Episodic eosinophilia Recurrent episodes of marked eosinophilia that resolve spontaneously. hp.json http://purl.obolibrary.org/obo/HP_0032151 HP:0032156 biolink:PhenotypicFeature Skin detachment Loss of sections of skin either spontaneously or after gentle handling. hp.json Skin sloughing|Epidermal detachment|Detached skin http://purl.obolibrary.org/obo/HP_0032156 HP:0032157 biolink:PhenotypicFeature Recurrent genital herpes Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks. hp.json http://purl.obolibrary.org/obo/HP_0032157 HP:0032158 biolink:PhenotypicFeature Unusual infection by anatomical site An unusual infection classified by the affected body part. hp.json http://purl.obolibrary.org/obo/HP_0032158 HP:0032159 biolink:PhenotypicFeature Fungal meningitis An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis. hp.json http://purl.obolibrary.org/obo/HP_0032159 HP:0032152 biolink:PhenotypicFeature Keratosis pilaris An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. hp.json Follicular keratosis|Carpet tack sign|Chicken skin|Follicular plugging|Hyperkeratosis pilaris|Follicular keratotic plug|Lichen pilaris http://purl.obolibrary.org/obo/HP_0032152 HP:0032153 biolink:PhenotypicFeature Joint subluxation A partial dislocation of a joint. hp.json http://purl.obolibrary.org/obo/HP_0032153 HP:0032154 biolink:PhenotypicFeature Aphthous ulcer Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. hp.json Canker sore http://purl.obolibrary.org/obo/HP_0032154 HP:0032155 biolink:PhenotypicFeature Abdominal cramps A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity. hp.json http://purl.obolibrary.org/obo/HP_0032155 CL:1000376 biolink:Cell Purkinje myocyte of interventricular septum A Purkinje myocyte that is part of the interventricular septum. FMA:263182 hp.json http://purl.obolibrary.org/obo/CL_1000376 HP:0032160 biolink:PhenotypicFeature Cryptococcal meningitis A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis. hp.json http://purl.obolibrary.org/obo/HP_0032160 HP:0032161 biolink:PhenotypicFeature Coccidioidal meningitis A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges. hp.json http://purl.obolibrary.org/obo/HP_0032161 HP:0032162 biolink:PhenotypicFeature Unusual skin infection A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection. hp.json http://purl.obolibrary.org/obo/HP_0032162 HP:0032167 biolink:PhenotypicFeature Clostridium difficile enteritis An infection of the small intestine (enteritis) by clostridium difficile. hp.json C. difficile enteritis http://purl.obolibrary.org/obo/HP_0032167 HP:0032168 biolink:PhenotypicFeature Clostridium difficile colitis An infection of the colon (colitis) by clostridium difficile. hp.json http://purl.obolibrary.org/obo/HP_0032168 HP:0032169 biolink:PhenotypicFeature Severe infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. hp.json Unusual course of infection http://purl.obolibrary.org/obo/HP_0032169 HP:0032163 biolink:PhenotypicFeature Molluscum contagiosum Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state. hp.json http://purl.obolibrary.org/obo/HP_0032163 HP:0032164 biolink:PhenotypicFeature Increased blood folate concentration An elevated circulating concentration of folic acid, which is also known as vitamin B9. hp.json http://purl.obolibrary.org/obo/HP_0032164 HP:0032165 biolink:PhenotypicFeature Placental mesenchymal dysplasia Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells. hp.json http://purl.obolibrary.org/obo/HP_0032165 HP:0032166 biolink:PhenotypicFeature Unusual gastrointestinal infection hp.json Unusual GI infection http://purl.obolibrary.org/obo/HP_0032166 CL:0002352 biolink:Cell gestational hematopoietic stem cell A hematopoietic stem cell that exists during embryogenesis. hp.json http://purl.obolibrary.org/obo/CL_0002352 CL:1000362 biolink:Cell transitional myocyte of interventricular septum A transitional myocyte that is part of the interventricular septum. FMA:263154 hp.json http://purl.obolibrary.org/obo/CL_1000362 CL:0002359 biolink:Cell placental hematopoietic stem cell A hematopoietic stem cell of the placenta. This cell type is first observed E10.5 This cell type may give rise to fetal liver hematopoietic stem cells. hp.json http://purl.obolibrary.org/obo/CL_0002359 CL:1000361 biolink:Cell transitional myocyte of interatrial septum A transitional myocyte that is part of the interatrial septum. FMA:263152 hp.json http://purl.obolibrary.org/obo/CL_1000361 GO:0035050 biolink:BiologicalProcess embryonic heart tube development The process whose specific outcome is the progression of the embryonic heart tube over time, from its formation to the mature structure. The heart tube forms as the heart rudiment from the heart field. hp.json http://purl.obolibrary.org/obo/GO_0035050 GO:0035051 biolink:BiologicalProcess cardiocyte differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual. hp.json cardiac cell differentiation|heart cell differentiation http://purl.obolibrary.org/obo/GO_0035051 CL:0002351 biolink:Cell progenitor cell of endocrine pancreas A progenitor cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. hp.json pancreatic endocrine progenitor|pancreatic islet progenitor cell http://purl.obolibrary.org/obo/CL_0002351 CL:0002350 biolink:Cell endocardial cell An endothelial cell that lines the intracavitary lumen of the heart, separating the circulating blood from the underlying myocardium. This cell type releases a number of vasoactive substances including prostacyclin, nitrous oxide and endothelin. FMA:75621 hp.json endothelial cell of endocardium|endocardial endothelial cell http://purl.obolibrary.org/obo/CL_0002350 HP:0032170 biolink:PhenotypicFeature Severe varicella zoster infection An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. hp.json http://purl.obolibrary.org/obo/HP_0032170 HP:0032171 biolink:PhenotypicFeature Bladder pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case. hp.json http://purl.obolibrary.org/obo/HP_0032171 HP:0032172 biolink:PhenotypicFeature Air crescent sign A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan. hp.json http://purl.obolibrary.org/obo/HP_0032172 HP:0032173 biolink:PhenotypicFeature Continuous diaphragm sign This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign. hp.json http://purl.obolibrary.org/obo/HP_0032173 GO:0106016 biolink:BiologicalProcess positive regulation of inflammatory response to wounding Any process that activates or increases the frequency, rate or extent of the inflammatory response to wounding. hp.json http://purl.obolibrary.org/obo/GO_0106016 GO:0106015 biolink:BiologicalProcess negative regulation of inflammatory response to wounding Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response to wounding. hp.json http://purl.obolibrary.org/obo/GO_0106015 GO:0106014 biolink:BiologicalProcess regulation of inflammatory response to wounding Any process that modulates the frequency, rate or extent of the inflammatory response to wounding. hp.json http://purl.obolibrary.org/obo/GO_0106014 HP:0032178 biolink:PhenotypicFeature Flaky paint dermatosis A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001). hp.json Flaky paint skin appearance http://purl.obolibrary.org/obo/HP_0032178 CL:0002328 biolink:Cell bronchial epithelial cell An epithelial cell of the bronchus. BTO:0002922 hp.json http://purl.obolibrary.org/obo/CL_0002328 HP:0032179 biolink:PhenotypicFeature Abnormal circulating globulin level An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode. hp.json http://purl.obolibrary.org/obo/HP_0032179 GO:0023061 biolink:BiologicalProcess signal release The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. hp.json signal secretion http://purl.obolibrary.org/obo/GO_0023061 HP:0032174 biolink:PhenotypicFeature Tree-in-bud pattern The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376). hp.json http://purl.obolibrary.org/obo/HP_0032174 HP:0032175 biolink:PhenotypicFeature Signet ring sign This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging. hp.json http://purl.obolibrary.org/obo/HP_0032175 HP:0032176 biolink:PhenotypicFeature Apical pulmonary opacity An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space. hp.json Apical pleural thickening|Apical cap http://purl.obolibrary.org/obo/HP_0032176 HP:0032177 biolink:PhenotypicFeature Parenchymal consolidation Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). hp.json http://purl.obolibrary.org/obo/HP_0032177 CL:0002320 biolink:Cell connective tissue cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. FMA:63875|CALOHA:TS-2096 hp.json http://purl.obolibrary.org/obo/CL_0002320 CL:0002321 biolink:Cell embryonic cell (metazoa) A cell of the embryo. FMA:82841|FMA:82840|WBbt:0007028|CALOHA:TS-0263 hp.json http://purl.obolibrary.org/obo/CL_0002321 GO:0023056 biolink:BiologicalProcess positive regulation of signaling Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. hp.json positive regulation of signalling process|positive regulation of signaling process http://purl.obolibrary.org/obo/GO_0023056 HP:0032181 biolink:PhenotypicFeature Anomalous hepatic venous drainage into the left atrium An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium. hp.json http://purl.obolibrary.org/obo/HP_0032181 HP:0032182 biolink:PhenotypicFeature Abnormal proportion of memory T cells An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response. hp.json Abnormal proportion of CD4+CD29+ cells http://purl.obolibrary.org/obo/HP_0032182 HP:0032183 biolink:PhenotypicFeature Decreased proportion of memory T cells An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood. hp.json Decreased proportion of CD4+CD29+ cells http://purl.obolibrary.org/obo/HP_0032183 GO:0023057 biolink:BiologicalProcess negative regulation of signaling Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process. hp.json negative regulation of signalling process|negative regulation of signaling process http://purl.obolibrary.org/obo/GO_0023057 HP:0032184 biolink:PhenotypicFeature Increased proportion of memory T cells An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood. hp.json Increased proportion of CD4+CD29+ cells http://purl.obolibrary.org/obo/HP_0032184 GO:0050657 biolink:BiologicalProcess nucleic acid transport The directed movement of nucleic acids, single or double-stranded polynucleotides involved in the storage, transmission and transfer of genetic information, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0050657 GO:0106027 biolink:BiologicalProcess neuron projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a neuron, e.g. an axon, or a dendrite. hp.json http://purl.obolibrary.org/obo/GO_0106027 GO:0050658 biolink:BiologicalProcess RNA transport The directed movement of RNA, ribonucleic acids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0050658 HP:0032180 biolink:PhenotypicFeature Abnormal circulating metabolite concentration An abnormal level of an analyte measured in the blood. hp.json http://purl.obolibrary.org/obo/HP_0032180 HP:0032189 biolink:PhenotypicFeature Cellular hypersensitivity to diepoxybutane An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. hp.json http://purl.obolibrary.org/obo/HP_0032189 HP:0032185 biolink:PhenotypicFeature Disseminated molluscum contagiosum The presense of molluscum contagiosum lesions across multiple areas of the body. hp.json http://purl.obolibrary.org/obo/HP_0032185 GO:0023052 biolink:BiologicalProcess signaling The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. hp.json single organism signaling|signalling|biological signaling|signaling process|signalling process http://purl.obolibrary.org/obo/GO_0023052 goslim_mouse|goslim_yeast|goslim_agr|goslim_generic|prokaryote_subset|goslim_pombe|goslim_flybase_ribbon GO:0023051 biolink:BiologicalProcess regulation of signaling Any process that modulates the frequency, rate or extent of a signaling process. hp.json regulation of signaling process|regulation of signalling process http://purl.obolibrary.org/obo/GO_0023051 HP:0032186 biolink:PhenotypicFeature Anal neoplasm A benign or malignant neoplasm that affects the anal canal or anal margin. hp.json http://purl.obolibrary.org/obo/HP_0032186 HP:0032187 biolink:PhenotypicFeature Anal intraepithelial neoplasia Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer. hp.json http://purl.obolibrary.org/obo/HP_0032187 HP:0032188 biolink:PhenotypicFeature Cellular hypersensitivity to mitomycin C An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. hp.json http://purl.obolibrary.org/obo/HP_0032188 CL:0002333 biolink:Cell neural crest derived fat cell A fat cell derived from a neural crest cell. hp.json http://purl.obolibrary.org/obo/CL_0002333 CL:0002336 biolink:Cell buccal mucosa cell An endothelial cell that lines the oral cavitiy including the mucosa of the gums, the palate, the lip, and the cheek. hp.json http://purl.obolibrary.org/obo/CL_0002336 HP:0007390 biolink:PhenotypicFeature Hyperkeratosis with erythema UMLS:C4024891 hp.json http://purl.obolibrary.org/obo/HP_0007390 HP:0007392 biolink:PhenotypicFeature Excessive wrinkled skin UMLS:C4024890 hp.json Excessive wrinkled skin http://purl.obolibrary.org/obo/HP_0007392 HP:0032355 biolink:PhenotypicFeature Decreased peak expiratory flow A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways. hp.json http://purl.obolibrary.org/obo/HP_0032355 HP:0032356 biolink:PhenotypicFeature Decreased pre-bronchodilator forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication. hp.json Decreased prebronchodilator forced vital capacity|Decreased pre bronchodilator forced vital capacity http://purl.obolibrary.org/obo/HP_0032356 HP:0032357 biolink:PhenotypicFeature Decreased post-bronchodilator forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication. hp.json Decreased postbronchodilator forced vital capacity|Decreased post bronchodilator forced vital capacity http://purl.obolibrary.org/obo/HP_0032357 HP:0032350 biolink:PhenotypicFeature Sulfocysteinuria A increased concentration of sulfocysteine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032350 CL:1000458 biolink:Cell melanocyte of skin A melanocyte that is part of the skin of body. FMA:72144|CALOHA:TS-2374 hp.json skin melanocyte http://purl.obolibrary.org/obo/CL_1000458 HP:0032351 biolink:PhenotypicFeature Phenylalaninuria Increased level of phenylalanine in urine. hp.json Increased level of phenylalanine in urine http://purl.obolibrary.org/obo/HP_0032351 HP:0032352 biolink:PhenotypicFeature Methioninuria Increased level of methionine in urine. hp.json http://purl.obolibrary.org/obo/HP_0032352 CL:1000457 biolink:Cell mesothelial cell of visceral peritoneum A mesothelial cell that is part of the visceral peritoneum. FMA:72143 hp.json http://purl.obolibrary.org/obo/CL_1000457 HP:0032353 biolink:PhenotypicFeature Leucinuria Increased level of leucine in urine. hp.json http://purl.obolibrary.org/obo/HP_0032353 CL:1000456 biolink:Cell mesothelial cell of parietal peritoneum A mesothelial cell that is part of the parietal peritoneum. FMA:72142 hp.json http://purl.obolibrary.org/obo/CL_1000456 GO:0001819 biolink:BiologicalProcess positive regulation of cytokine production Any process that activates or increases the frequency, rate or extent of production of a cytokine. hp.json upregulation of cytokine production|positive regulation of cytokine biosynthetic process|up-regulation of cytokine production|positive regulation of cytokine secretion|up regulation of cytokine production|activation of cytokine production|stimulation of cytokine production http://purl.obolibrary.org/obo/GO_0001819 HP:0032358 biolink:PhenotypicFeature Decreased post-bronchodilator forced expiratory volume in one second An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication. hp.json Decreased postbronchodilator forced expiratory volume in one second|Decreased post bronchodilator forced expiratory volume in one second http://purl.obolibrary.org/obo/HP_0032358 HP:0032359 biolink:PhenotypicFeature Decreased forced expiratory flow 25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. hp.json Decreased FEF25-75% http://purl.obolibrary.org/obo/HP_0032359 HP:0007387 biolink:PhenotypicFeature Hypoplastic sweat glands Underdevelopment of the sweat glands. UMLS:C1832455 hp.json Underdeveloped sweat glands http://purl.obolibrary.org/obo/HP_0007387 GO:0001816 biolink:BiologicalProcess cytokine production The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. hp.json cytokine secretion|interleukin production|interferon production|interleukin secretion|cytokine metabolic process|cytokine biosynthetic process|interferon secretion http://purl.obolibrary.org/obo/GO_0001816 gocheck_do_not_annotate|goslim_pir GO:0001817 biolink:BiologicalProcess regulation of cytokine production Any process that modulates the frequency, rate, or extent of production of a cytokine. hp.json regulation of cytokine biosynthesis|regulation of cytokine anabolism|regulation of cytokine synthesis|regulation of cytokine formation|regulation of cytokine biosynthetic process|regulation of cytokine secretion http://purl.obolibrary.org/obo/GO_0001817 GO:0001818 biolink:BiologicalProcess negative regulation of cytokine production Any process that stops, prevents, or reduces the rate of production of a cytokine. hp.json down regulation of cytokine production|negative regulation of cytokine secretion|inhibition of cytokine biosynthetic process|downregulation of cytokine biosynthetic process|inhibition of cytokine production|downregulation of cytokine production|negative regulation of cytokine biosynthetic process|negative regulation of cytokine anabolism|negative regulation of cytokine biosynthesis|negative regulation of cytokine synthesis|down-regulation of cytokine biosynthetic process|down-regulation of cytokine production|down regulation of cytokine biosynthetic process|negative regulation of cytokine formation http://purl.obolibrary.org/obo/GO_0001818 HP:0007383 biolink:PhenotypicFeature Congenital localized absence of skin UMLS:C2673597 hp.json Congenital localised skin absence|Congenital localised absence of skin|Congenital localized skin absence http://purl.obolibrary.org/obo/HP_0007383 HP:0007384 biolink:PhenotypicFeature Aberrant melanosome maturation UMLS:C1969516 hp.json http://purl.obolibrary.org/obo/HP_0007384 HP:0007385 biolink:PhenotypicFeature Aplasia cutis congenita of scalp A developmental defect resulting in the congenital absence of skin on the scalp. UMLS:C1855698|UMLS:C4048801|UMLS:C4072858|UMLS:C4072857 hp.json Focal absence of scalp tissue|Scalp defect|Scalp aplasia cutis congenita|Defect of scalp|Solitary scalp defect http://purl.obolibrary.org/obo/HP_0007385 hposlim_core GO:0001820 biolink:BiologicalProcess serotonin secretion The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. hp.json 5-HT secretion|5-hydroxytryptamine secretion|serotonin release http://purl.obolibrary.org/obo/GO_0001820 HP:0032360 biolink:PhenotypicFeature Decreased pre-bronchodilator forced expiratory flow 25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication. hp.json Decreased pre bronchodilator forced expiratory flow 25-75%|Decreased pre-bronchodilator FEF25-75%|Decreased prebronchodilator forced expiratory flow 25-75% http://purl.obolibrary.org/obo/HP_0032360 HP:0032365 biolink:PhenotypicFeature Exacerbated by aspirin ingestion Applied to a sign or symptom that is worsened by ingestion of aspirin. hp.json http://purl.obolibrary.org/obo/HP_0032365 HP:0032366 biolink:PhenotypicFeature Positive direct antiglobulin test A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. hp.json http://purl.obolibrary.org/obo/HP_0032366 HP:0032367 biolink:PhenotypicFeature Abnormal growth hormone level Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful. hp.json Abnormal somatotropin level http://purl.obolibrary.org/obo/HP_0032367 HP:0032368 biolink:PhenotypicFeature Acidemia An abnormally low blood pH (usually defined as less than 7.35). hp.json http://purl.obolibrary.org/obo/HP_0032368 CHEBI:25585 biolink:ChemicalSubstance nonmetal atom hp.json nonmetal|Nichtmetalle|nonmetal|nonmetals|Nichtmetall|non-metaux|no metal|non-metal|no metales http://purl.obolibrary.org/obo/CHEBI_25585 3_STAR HP:0032361 biolink:PhenotypicFeature Decreased post-bronchodilator forced expiratory flow 25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication. hp.json Decreased post bronchodilator forced expiratory flow 25-75%|Decreased post-bronchodilator FEF25-75%|Decreased postbronchodilator forced expiratory flow 25-75% http://purl.obolibrary.org/obo/HP_0032361 CL:1000447 biolink:Cell epithelial cell of stratum germinativum of esophagus A basal cell that is part of the epithelium of esophagus. FMA:70731 hp.json basal cell of esophageal epithelium http://purl.obolibrary.org/obo/CL_1000447 HP:0032362 biolink:PhenotypicFeature Increased circulating corticosterone level An abnormally elevated concentration of corticosterone in the blood. hp.json http://purl.obolibrary.org/obo/HP_0032362 HP:0032363 biolink:PhenotypicFeature Decreased circulating corticosterone level An abnormally reduced concentration of corticosterone in the blood. hp.json http://purl.obolibrary.org/obo/HP_0032363 HP:0032364 biolink:PhenotypicFeature obsolete Abnormal CSF amino acid level hp.json http://purl.obolibrary.org/obo/HP_0032364 CL:1000444 biolink:Cell mesothelial cell of anterior chamber of eye A mesothelial cell that is part of the anterior chamber of eyeball. FMA:70615 hp.json http://purl.obolibrary.org/obo/CL_1000444 CL:1000443 biolink:Cell ciliary muscle cell A smooth muscle cell that is part of the ciliary body. FMA:70610 hp.json smooth muscle cell of ciliary body http://purl.obolibrary.org/obo/CL_1000443 HP:0032369 biolink:PhenotypicFeature Alkalemia An abnormally high blood pH (usually defined as 7.41 or above). hp.json http://purl.obolibrary.org/obo/HP_0032369 GO:0001826 biolink:BiologicalProcess inner cell mass cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an inner cell mass cell. hp.json http://purl.obolibrary.org/obo/GO_0001826 HP:0007398 biolink:PhenotypicFeature Asymmetric, linear skin defects UMLS:C4024888 hp.json http://purl.obolibrary.org/obo/HP_0007398 GO:0001829 biolink:BiologicalProcess trophectodermal cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a trophectoderm cell. hp.json trophectoderm cell differentiation http://purl.obolibrary.org/obo/GO_0001829 HP:0007394 biolink:PhenotypicFeature Prominent superficial blood vessels UMLS:C1848771 hp.json Prominent superficial blood vessels|Prominent superficial vasculature http://purl.obolibrary.org/obo/HP_0007394 HP:0007395 biolink:PhenotypicFeature Postnatal-onset ichthyosiform erythroderma A type of ichthyosiform erythroderma with postnatal onset. UMLS:C4021576 hp.json Postnatal-onset ichthyosis http://purl.obolibrary.org/obo/HP_0007395 GO:0001824 biolink:BiologicalProcess blastocyst development The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm. hp.json http://purl.obolibrary.org/obo/GO_0001824 HP:0007396 biolink:PhenotypicFeature Early cutaneous photosensitivity Photosensitivity of the skin occurring early in life. UMLS:C4024889 hp.json Sun sensitivity occurring early in life http://purl.obolibrary.org/obo/HP_0007396 HP:0007397 biolink:PhenotypicFeature Axillary apocrine gland hypoplasia Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. UMLS:C1867003 hp.json http://purl.obolibrary.org/obo/HP_0007397 GO:0001825 biolink:BiologicalProcess blastocyst formation The initial formation of a blastocyst from a solid ball of cells known as a morula. hp.json http://purl.obolibrary.org/obo/GO_0001825 CHEBI:25555 biolink:ChemicalSubstance nitrogen atom WebElements:N hp.json nitrogeno|N|Stickstoff|nitrogen|nitrogen|7N|azote http://purl.obolibrary.org/obo/CHEBI_25555 3_STAR HP:0007370 biolink:PhenotypicFeature Aplasia/Hypoplasia of the corpus callosum Absence or underdevelopment of the corpus callosum. UMLS:C1861866 hp.json Complete or partial absence of the corpus callosum|Hypoplasia or absence of the corpus callosum|Absent/hypoplastic corpus callosum|Agenesis/hypoplastic corpus callosum|Hypoplastic or absent corpus callosum http://purl.obolibrary.org/obo/HP_0007370 HP:0032370 biolink:PhenotypicFeature Blood group A ABO phenotype A, corresponding to the genotype AO or AA. hp.json http://purl.obolibrary.org/obo/HP_0032370 HP:0032371 biolink:PhenotypicFeature Isoleucinuria An increased concentration of isoleucine in the urine. hp.json Hyperisoleucinuria http://purl.obolibrary.org/obo/HP_0032371 HP:0007371 biolink:PhenotypicFeature Corpus callosum atrophy The presence of atrophy (wasting) of the corpus callosum. UMLS:C0431370|SNOMEDCT_US:253142006 hp.json Atrophic corpus callosum|Atrophy/Degeneration of the corpus callosum|Atrophy of the corpus callosum http://purl.obolibrary.org/obo/HP_0007371 HP:0032376 biolink:PhenotypicFeature Anti-beta 2 glycoprotein I antibody positivity Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS). hp.json Anti-B2GPI positivity http://purl.obolibrary.org/obo/HP_0032376 HP:0032377 biolink:PhenotypicFeature Increased urinary orosomucoid An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism. hp.json Increased urinary alpha-1-acid glycoprotein http://purl.obolibrary.org/obo/HP_0032377 HP:0032378 biolink:PhenotypicFeature Immediate-type hypersensitivity drug reaction Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement. hp.json http://purl.obolibrary.org/obo/HP_0032378 UBERON:0036553 biolink:AnatomicalEntity wall of synovial tendon sheath FMA:231590 hp.json http://purl.obolibrary.org/obo/UBERON_0036553 HP:0032379 biolink:PhenotypicFeature Polymorphous light eruption The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces. hp.json Sun allergy http://purl.obolibrary.org/obo/HP_0032379 HP:0032372 biolink:PhenotypicFeature Increased peripheral blast count An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications. hp.json Increased peripheral myeloblast count|Elevated blast count|Elevated circulating blasts http://purl.obolibrary.org/obo/HP_0032372 HP:0032373 biolink:PhenotypicFeature Duffy blood group The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-. hp.json http://purl.obolibrary.org/obo/HP_0032373 HP:0032374 biolink:PhenotypicFeature Duffy Fya positivity Presence of the Duffy Fya antigen. hp.json http://purl.obolibrary.org/obo/HP_0032374 CL:1000479 biolink:Cell Purkinje myocyte of atrioventricular node A Purkinje myocyte that is part of the atrioventricular node. FMA:83386 hp.json http://purl.obolibrary.org/obo/CL_1000479 HP:0032375 biolink:PhenotypicFeature Duffy Fyb positivity Presence of the Duffy Fyb antigen. hp.json http://purl.obolibrary.org/obo/HP_0032375 CL:1000478 biolink:Cell transitional myocyte of sinoatrial node A transitional myocyte that is part of the sinoatrial node. FMA:83384 hp.json transitinal myocyte of sinuatrial node http://purl.obolibrary.org/obo/CL_1000478 HP:0007369 biolink:PhenotypicFeature Atrophy/Degeneration affecting the cerebrum The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. UMLS:C4024898 hp.json http://purl.obolibrary.org/obo/HP_0007369 HP:0007365 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the corticospinal tracts UMLS:C4024901 hp.json http://purl.obolibrary.org/obo/HP_0007365 HP:0007366 biolink:PhenotypicFeature Atrophy/Degeneration affecting the brainstem UMLS:C4024900 hp.json Brainstem atrophy http://purl.obolibrary.org/obo/HP_0007366 HP:0007367 biolink:PhenotypicFeature Atrophy/Degeneration affecting the central nervous system UMLS:C4024899 hp.json Atrophy/Degeneration affecting the CNS http://purl.obolibrary.org/obo/HP_0007367 HP:0007361 biolink:PhenotypicFeature Abnormal pons morphology A structural abnormality of the pons. UMLS:C4024905 hp.json Abnormality of the pons http://purl.obolibrary.org/obo/HP_0007361 HP:0007362 biolink:PhenotypicFeature Aplasia/Hypoplasia of the brainstem UMLS:C4024904 hp.json Absent/small brainstem|Absent/underdeveloped brainstem http://purl.obolibrary.org/obo/HP_0007362 ENVO:00000446 biolink:NamedThing terrestrial biome hp.json http://purl.obolibrary.org/obo/ENVO_00000446 HP:0007363 biolink:PhenotypicFeature Aplasia/Hypoplasia of the pyramidal tract UMLS:C4024903 hp.json http://purl.obolibrary.org/obo/HP_0007363 HP:0007364 biolink:PhenotypicFeature Aplasia/Hypoplasia of the cerebrum UMLS:C4024902 hp.json Absent/underdeveloped cerebrum|Absent/small cerebrum http://purl.obolibrary.org/obo/HP_0007364 HP:0007380 biolink:PhenotypicFeature Facial telangiectasia Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. UMLS:C0858684 hp.json Facial telangiectatic vessels|Telangiectasia, facial http://purl.obolibrary.org/obo/HP_0007380 HP:0007381 biolink:PhenotypicFeature Congenital exfoliative erythroderma UMLS:C4024892 hp.json http://purl.obolibrary.org/obo/HP_0007381 HP:0032381 biolink:PhenotypicFeature Hydroa vacciniforme In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation. hp.json Acute vesiculation and crusting and scarring following sun exposure http://purl.obolibrary.org/obo/HP_0032381 HP:0032382 biolink:PhenotypicFeature Uniparental disomy Inheritance of both homologues of a chromosome pair from the same parent. hp.json UPD http://purl.obolibrary.org/obo/HP_0032382 CHEBI:50505 biolink:ChemicalSubstance sweetening agent Substance that sweeten food, beverages, medications, etc. hp.json sweeteners|sweetener http://purl.obolibrary.org/obo/CHEBI_50505 3_STAR CHEBI:50503 biolink:ChemicalSubstance laxative An agent that produces a soft formed stool, and relaxes and loosens the bowels, typically used over a protracted period, to relieve constipation. Compare with cathartic, which is a substance that accelerates defecation. A substances can be both a laxative and a cathartic. hp.json laxante|laxatives|aperient|purgative|purgatives|aperients http://purl.obolibrary.org/obo/CHEBI_50503 3_STAR HP:0032387 biolink:PhenotypicFeature Reduced circulating transferrin concentration An abnormally decreased concentration of transferrin in the blood circulation. hp.json Reduced transferrin level http://purl.obolibrary.org/obo/HP_0032387 HP:0032388 biolink:PhenotypicFeature Periventricular nodular heterotopia Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple. hp.json http://purl.obolibrary.org/obo/HP_0032388 HP:0032389 biolink:PhenotypicFeature Periventricular laminar heterotopia A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral. hp.json http://purl.obolibrary.org/obo/HP_0032389 HP:0032383 biolink:PhenotypicFeature Uniparental heterodisomy A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted. hp.json http://purl.obolibrary.org/obo/HP_0032383 HP:0032384 biolink:PhenotypicFeature Uniparental isodisomy A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted. hp.json http://purl.obolibrary.org/obo/HP_0032384 HP:0032385 biolink:PhenotypicFeature Abnormal circulating transferrin concentration Any deviation from the normal concentration of transferrin in the blood circulation. hp.json Abnormal circulating transferrin level http://purl.obolibrary.org/obo/HP_0032385 HP:0032386 biolink:PhenotypicFeature Elevated circulating transferrin concentration An abnormally increased concentration of transferrin in the blood circulation. hp.json Elevated transferrin level http://purl.obolibrary.org/obo/HP_0032386 CHEBI:86508 biolink:ChemicalSubstance alpha-aminobutyrate An alpha-amino-acid anion that is the conjugate base of alpha-aminobutyric acid. PMID:24023812 hp.json 2-aminobutanoate http://purl.obolibrary.org/obo/CHEBI_86508 3_STAR HP:0007376 biolink:PhenotypicFeature Abnormal choroid plexus morphology An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. UMLS:C4024893 hp.json http://purl.obolibrary.org/obo/HP_0007376 HP:0007377 biolink:PhenotypicFeature Abnormality of somatosensory evoked potentials An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. UMLS:C4021577 hp.json Abnormality of SSEPs http://purl.obolibrary.org/obo/HP_0007377 HP:0007378 biolink:PhenotypicFeature Neoplasm of the gastrointestinal tract A tumor (abnormal growth of tissue) of the gastrointestinal tract. MSH:D005770|NCIT:C3262|UMLS:C0017185|SNOMEDCT_US:126768004 hp.json GI tract tumour|Gastrointestinal tract tumor|Gastrointestinal tract neoplasm|GI tract tumor|Gastrointestinal tract neoplasia|Neoplasm of the GI tract|Gastrointestinal tract tumour http://purl.obolibrary.org/obo/HP_0007378 HP:0007379 biolink:PhenotypicFeature Neoplasm of the genitourinary tract A tumor (abnormal growth of tissue) of the genitourinary system. UMLS:C0042065|NCIT:C3262|UMLS:C4020809|MSH:D014565 hp.json Neoplasm of the GU tract|Genitourinary tract tumours|Genitourinary tract tumors|Genitourinary tract neoplasm|Genitourinary tract neoplasia http://purl.obolibrary.org/obo/HP_0007379 HP:0007372 biolink:PhenotypicFeature Atrophy/Degeneration involving the corticospinal tracts UMLS:C4024897 hp.json http://purl.obolibrary.org/obo/HP_0007372 HP:0007373 biolink:PhenotypicFeature Motor neuron atrophy Wasting involving the motor neuron. UMLS:C4024896 hp.json Motor neuron degeneration http://purl.obolibrary.org/obo/HP_0007373 HP:0007374 biolink:PhenotypicFeature Atrophy/Degeneration involving the caudate nucleus UMLS:C4024895 hp.json http://purl.obolibrary.org/obo/HP_0007374 HP:0007375 biolink:PhenotypicFeature Abnormal septum pellucidum morphology An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. UMLS:C4024894 hp.json Abnormality of the septum pellucidum http://purl.obolibrary.org/obo/HP_0007375 HP:0032310 biolink:PhenotypicFeature Granulocytosis An increased count of granulocytes in the peripheral blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032310 HP:0032311 biolink:PhenotypicFeature Increased circulating globulin level An abnormally elevated concentration of globulins in the blood. hp.json http://purl.obolibrary.org/obo/HP_0032311 HP:0032312 biolink:PhenotypicFeature Decreased circulating globulin level An abnormally reduced concentration of globulins in the blood. hp.json http://purl.obolibrary.org/obo/HP_0032312 HP:0032313 biolink:PhenotypicFeature Frontotemporal hypertrichosis Excessive, increased hair growth located in the region of the forehead and temple. hp.json http://purl.obolibrary.org/obo/HP_0032313 CL:1000414 biolink:Cell endothelial cell of venule An endothelial cell that is part of the venule. FMA:67762 hp.json http://purl.obolibrary.org/obo/CL_1000414 CL:1000413 biolink:Cell endothelial cell of artery A blood vessel endothelial cell that is part of an arterial endothelium. KUPO:0001095|BTO:0004758|FMA:67761 hp.json arterial endothelial cell http://purl.obolibrary.org/obo/CL_1000413 CL:1000412 biolink:Cell endothelial cell of arteriole An endothelial cell that is part of the arteriole. KUPO:0001097|FMA:67760 hp.json http://purl.obolibrary.org/obo/CL_1000412 HP:0032318 biolink:PhenotypicFeature Family history of heart disease A close blood relative had heart disease. hp.json http://purl.obolibrary.org/obo/HP_0032318 CL:1000410 biolink:Cell myocyte of atrioventricular node A muscle cell that is part of the atrioventricular node. FMA:67106 hp.json atrioventricular node myocyte|atrioventricular node cell|AV node cardiac muscle cell|AV nodal myocyte|AV node cell http://purl.obolibrary.org/obo/CL_1000410 CL:0002187 biolink:Cell basal cell of epidermis A basally situated, mitotically active, columnar-shaped keratinocyte attached to the basement membrane. FMA:70571 hp.json http://purl.obolibrary.org/obo/CL_0002187 HP:0032319 biolink:PhenotypicFeature Health status Health status of a family member with respect to the disease being investigated in a proband. hp.json http://purl.obolibrary.org/obo/HP_0032319 HP:0032314 biolink:PhenotypicFeature Abnormal areolar morphology An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple. hp.json http://purl.obolibrary.org/obo/HP_0032314 HP:0032315 biolink:PhenotypicFeature Areolar fullness The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape. hp.json http://purl.obolibrary.org/obo/HP_0032315 HP:0032316 biolink:PhenotypicFeature Family history Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins. hp.json http://purl.obolibrary.org/obo/HP_0032316 HP:0032317 biolink:PhenotypicFeature Family history of cancer A close blood relative had cancer. hp.json http://purl.obolibrary.org/obo/HP_0032317 CL:0002180 biolink:Cell mucous cell of stomach A mucous cell in the epithelium of the stomach. FMA:63464 hp.json http://purl.obolibrary.org/obo/CL_0002180 ENVO:00000428 biolink:NamedThing biome hp.json http://purl.obolibrary.org/obo/ENVO_00000428 CL:0002183 biolink:Cell stem cell of gastric gland A stomach epithelial cell that is olumnar in form with a few short apical microvilli; relatively undifferentiated mitotic cell from which other types of gland are derived; few in number, situated in the isthmus region of the gland and base of the gastric pit. FMA:62953 hp.json http://purl.obolibrary.org/obo/CL_0002183 CL:1000409 biolink:Cell myocyte of sinoatrial node A muscle cell that is part of the sinoatrial node. FMA:67102 hp.json SA nodal myocyte|myocyte of sinoatrial node|SA node cardiac muscle cell|sinoatrial node myocyte|sinoatrial node cell|sinuatrial node myocyte http://purl.obolibrary.org/obo/CL_1000409 HP:0032321 biolink:PhenotypicFeature Unaffected This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded. hp.json http://purl.obolibrary.org/obo/HP_0032321 HP:0032322 biolink:PhenotypicFeature Healthy No history of any serious disease, including the disease being investigated in the proband. hp.json http://purl.obolibrary.org/obo/HP_0032322 HP:0032323 biolink:PhenotypicFeature Periodic fever Episodic fever that recurs at regular intervals. hp.json http://purl.obolibrary.org/obo/HP_0032323 HP:0032324 biolink:PhenotypicFeature Non-periodic recurrent fever Episodic fever that recurs at irregular intervals. hp.json http://purl.obolibrary.org/obo/HP_0032324 HP:0032320 biolink:PhenotypicFeature Affected This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband). hp.json http://purl.obolibrary.org/obo/HP_0032320 CL:0002199 biolink:Cell oxyphil cell of parathyroid gland An oncocyte located in the parathyroid gland. FMA:69084 hp.json http://purl.obolibrary.org/obo/CL_0002199 HP:0032329 biolink:PhenotypicFeature Increased urinary 11-deoxycortisol level An abnormally elevated concentration of 11-deoxycortisol in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032329 CL:0002198 biolink:Cell oncocyte A large epithelial cell with an extremely acidophilic and granular cytoplasm, containing vast numbers of mitochondria; such cells may undergo neoplastic transformation. From the Greek word onkos meaning swelling, this cell type is found in parathyroid, salivary and thyroid glands. FMA:67606 hp.json oxyphil http://purl.obolibrary.org/obo/CL_0002198 CHEBI:37527 biolink:ChemicalSubstance acid An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). KEGG:C00174 hp.json Acid|acide|acids|acido|Saeure|acid|Saeuren http://purl.obolibrary.org/obo/CHEBI_37527 3_STAR HP:0032325 biolink:PhenotypicFeature Lacunar stroke A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. hp.json http://purl.obolibrary.org/obo/HP_0032325 HP:0032326 biolink:PhenotypicFeature Methicillin-resistant Staphylococcus aureus infection Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection. hp.json MRSA infection http://purl.obolibrary.org/obo/HP_0032326 HP:0032327 biolink:PhenotypicFeature Interhemispheric cyst Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. hp.json http://purl.obolibrary.org/obo/HP_0032327 HP:0032328 biolink:PhenotypicFeature Temporomandibular joint adhesion Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ. hp.json http://purl.obolibrary.org/obo/HP_0032328 CL:0002191 biolink:Cell granulocytopoietic cell A cell involved in the formation of a granulocyte. FMA:83519 hp.json http://purl.obolibrary.org/obo/CL_0002191 CL:0002194 biolink:Cell monopoietic cell A cell involved in the formation of a monocyte (monopoiesis). FMA:83552 hp.json http://purl.obolibrary.org/obo/CL_0002194 CHEBI:25512 biolink:ChemicalSubstance neurotransmitter An endogenous compound that is used to transmit information across the synapse between a neuron and another cell. Wikipedia:Neurotransmitter hp.json neurotransmitters http://purl.obolibrary.org/obo/CHEBI_25512 3_STAR GO:0050801 biolink:BiologicalProcess ion homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. hp.json electrolyte homeostasis|regulation of ion homeostasis|negative regulation of crystal formation http://purl.obolibrary.org/obo/GO_0050801 CHEBI:25513 biolink:ChemicalSubstance neutral glycosphingolipid Any glycosphingolipid containing unsubstituted glycosyl moieties. hp.json neutral glycosphingolipids http://purl.obolibrary.org/obo/CHEBI_25513 3_STAR GO:0050804 biolink:BiologicalProcess modulation of chemical synaptic transmission Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. hp.json regulation of chemical synaptic transmission|modulation of synaptic transmission|regulation of synaptic transmission http://purl.obolibrary.org/obo/GO_0050804 goslim_synapse HP:0032332 biolink:PhenotypicFeature Oligoclonal elevation of circulating IgM An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase. hp.json http://purl.obolibrary.org/obo/HP_0032332 GO:0050805 biolink:BiologicalProcess negative regulation of synaptic transmission Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. hp.json down-regulation of synaptic transmission|down regulation of synaptic transmission|inhibition of synaptic transmission|downregulation of synaptic transmission http://purl.obolibrary.org/obo/GO_0050805 HP:0032333 biolink:PhenotypicFeature Polyclonal elevation of circulating IgA A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis. hp.json http://purl.obolibrary.org/obo/HP_0032333 HP:0032334 biolink:PhenotypicFeature Oligoclonal elevation of circulating IgA An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp.json http://purl.obolibrary.org/obo/HP_0032334 GO:0050802 biolink:BiologicalProcess circadian sleep/wake cycle, sleep The part of the circadian sleep/wake cycle where the organism is asleep. hp.json http://purl.obolibrary.org/obo/GO_0050802 HP:0032335 biolink:PhenotypicFeature Monoclonal elevation of circulating IgA An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp.json http://purl.obolibrary.org/obo/HP_0032335 GO:0050803 biolink:BiologicalProcess regulation of synapse structure or activity Any process that modulates the physical form or the activity of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). hp.json http://purl.obolibrary.org/obo/GO_0050803 GO:0050808 biolink:BiologicalProcess synapse organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). hp.json synapse morphogenesis|synapse organisation|synapse development|synapse organization and biogenesis http://purl.obolibrary.org/obo/GO_0050808 goslim_drosophila|goslim_synapse GO:0050806 biolink:BiologicalProcess positive regulation of synaptic transmission Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. hp.json up regulation of synaptic transmission|activation of synaptic transmission|stimulation of synaptic transmission|upregulation of synaptic transmission|up-regulation of synaptic transmission http://purl.obolibrary.org/obo/GO_0050806 HP:0032330 biolink:PhenotypicFeature Increased urinary 11-deoxycorticosterone level An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032330 HP:0032331 biolink:PhenotypicFeature Increased urinary 11-deoxytetrahydrocorticosterone level An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine. hp.json http://purl.obolibrary.org/obo/HP_0032331 GO:0050807 biolink:BiologicalProcess regulation of synapse organization Any process that modulates the physical form of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). hp.json regulation of synapse organization and biogenesis|regulation of synapse organisation|regulation of synapse structure http://purl.obolibrary.org/obo/GO_0050807 goslim_synapse CL:0002166 biolink:Cell epithelial cell of Malassez An epithelial cell that remains from the disintegration of the epithelial root sheath involved in the development of teeth. FMA:62987 hp.json epithelial cell rests of Malassez|epithelial debris of Malassez http://purl.obolibrary.org/obo/CL_0002166 OIO:shorthand biolink:NamedThing shorthand hp.json http://www.geneontology.org/formats/oboInOwl#shorthand HP:0032336 biolink:PhenotypicFeature Increased circulating specific IgE antibody hp.json http://purl.obolibrary.org/obo/HP_0032336 HP:0032337 biolink:PhenotypicFeature Monoclonal elevation of circulating IgE An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp.json http://purl.obolibrary.org/obo/HP_0032337 HP:0032338 biolink:PhenotypicFeature Oligoclonal elevation of circulating IgE An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp.json http://purl.obolibrary.org/obo/HP_0032338 HP:0032339 biolink:PhenotypicFeature Polyclonal elevation of circulating IgE A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis. hp.json http://purl.obolibrary.org/obo/HP_0032339 GO:0050810 biolink:BiologicalProcess regulation of steroid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. hp.json regulation of steroid synthesis|regulation of steroid formation|regulation of steroid biosynthesis|regulation of steroidogenesis|regulation of steroid anabolism http://purl.obolibrary.org/obo/GO_0050810 HP:0032344 biolink:PhenotypicFeature Upslanting toenail Upturned concavity of toenails. hp.json Ski-jump toenail|Upturned toenail http://purl.obolibrary.org/obo/HP_0032344 UBERON:0036521 biolink:AnatomicalEntity wall of urethra FMA:19779 hp.json urethral wall http://purl.obolibrary.org/obo/UBERON_0036521 CL:1000428 biolink:Cell stem cell of epidermis A somatic stem cell that is part of the epidermis. FMA:70541 hp.json epidermal stem cell http://purl.obolibrary.org/obo/CL_1000428 HP:0032345 biolink:PhenotypicFeature Elevated cancer Ag 19-9 level An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032345 HP:0032346 biolink:PhenotypicFeature Cutaneous lichen amyloidosis Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs. hp.json http://purl.obolibrary.org/obo/HP_0032346 CL:1000426 biolink:Cell chromaffin cell of adrenal gland A chromaffin cell that is part of the adrenal gland. FMA:69794 hp.json adrenal chromaffin cell http://purl.obolibrary.org/obo/CL_1000426 UBERON:0036523 biolink:AnatomicalEntity wall of vagina FMA:19971 hp.json vaginal wall http://purl.obolibrary.org/obo/UBERON_0036523 GO:0050819 biolink:BiologicalProcess negative regulation of coagulation Any process that stops, prevents, or reduces the frequency, rate or extent of coagulation. hp.json anticoagulant activity|down-regulation of coagulation|down regulation of coagulation|negative regulation of clotting|inhibition of coagulation|downregulation of coagulation http://purl.obolibrary.org/obo/GO_0050819 HP:0032340 biolink:PhenotypicFeature obsolete Abnormal spirometry test hp.json http://purl.obolibrary.org/obo/HP_0032340 GO:0050817 biolink:BiologicalProcess coagulation The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. hp.json clotting http://purl.obolibrary.org/obo/GO_0050817 goslim_pir HP:0032341 biolink:PhenotypicFeature Reduced forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal inspiration. hp.json Reduced FVC|Decreased forced vital capacity http://purl.obolibrary.org/obo/HP_0032341 GO:0050818 biolink:BiologicalProcess regulation of coagulation Any process that modulates the frequency, rate or extent of coagulation, the process in which a fluid solution, or part of it, changes into a solid or semisolid mass. hp.json regulation of clotting http://purl.obolibrary.org/obo/GO_0050818 HP:0032342 biolink:PhenotypicFeature Reduced forced expiratory volume in one second An abnormal reduction in the amount of air a person can forcefully expel in one second. hp.json Reduced FEV1 http://purl.obolibrary.org/obo/HP_0032342 CL:0002178 biolink:Cell epithelial cell of stomach An epithelial cell found in the lining of the stomach. FMA:62948 hp.json http://purl.obolibrary.org/obo/CL_0002178 HP:0032347 biolink:PhenotypicFeature Cutaneous macular amyloidosis A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern. hp.json Macular amyloidosis http://purl.obolibrary.org/obo/HP_0032347 HP:0032348 biolink:PhenotypicFeature Cutaneous nodular amyloidosis A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue. hp.json http://purl.obolibrary.org/obo/HP_0032348 HP:0032349 biolink:PhenotypicFeature Serinuria A increased concentration of serine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032349 CL:0002170 biolink:Cell keratinized cell of the oral mucosa A keratinized cell located in the hard palate or gingiva. hp.json http://purl.obolibrary.org/obo/CL_0002170 GO:0072175 biolink:BiologicalProcess epithelial tube formation The developmental process pertaining to the initial formation of an epithelial tube. hp.json http://purl.obolibrary.org/obo/GO_0072175 GO:0001892 biolink:BiologicalProcess embryonic placenta development The embryonically driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin. hp.json fetal placenta development http://purl.obolibrary.org/obo/GO_0001892 GO:0001894 biolink:BiologicalProcess tissue homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. hp.json tissue maintenance http://purl.obolibrary.org/obo/GO_0001894 HP:0010962 biolink:PhenotypicFeature Extralobar sequestration A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura. UMLS:C4023626 hp.json http://purl.obolibrary.org/obo/HP_0010962 HP:0010961 biolink:PhenotypicFeature Intralobar sequestration A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung. UMLS:C4023627 hp.json http://purl.obolibrary.org/obo/HP_0010961 HP:0010960 biolink:PhenotypicFeature Bronchopulmonary sequestration The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree. UMLS:C0006288|MSH:D001998|SNOMEDCT_US:18620009 hp.json http://purl.obolibrary.org/obo/HP_0010960 GO:0001890 biolink:BiologicalProcess placenta development The process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin. hp.json placentation|placental development http://purl.obolibrary.org/obo/GO_0001890 HP:0007307 biolink:PhenotypicFeature Rapid neurologic deterioration UMLS:C4024908 hp.json http://purl.obolibrary.org/obo/HP_0007307 HP:0010969 biolink:PhenotypicFeature Abnormality of glycolipid metabolism An abnormality of glycolipid metabolism. UMLS:C4023621 hp.json http://purl.obolibrary.org/obo/HP_0010969 HP:0009969 biolink:PhenotypicFeature Partial duplication of the middle phalanx of the 3rd finger Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4024138 hp.json Partial duplication of the middle bone of the 3rd finger http://purl.obolibrary.org/obo/HP_0009969 HP:0007308 biolink:PhenotypicFeature Extrapyramidal dyskinesia UMLS:C1848528 hp.json http://purl.obolibrary.org/obo/HP_0007308 HP:0010968 biolink:PhenotypicFeature Abnormality of liposaccharide metabolism An abnormality of liposaccharide metabolism. UMLS:C4023622 hp.json http://purl.obolibrary.org/obo/HP_0010968 PATO:0055003 biolink:NamedThing increased rate of occurrence A rate of occurrence that is relatively high. hp.json http://purl.obolibrary.org/obo/PATO_0055003 HP:0010967 biolink:PhenotypicFeature Abnormal circulating carnitine concentration Any deviation from the normal concentration of carnitine in the blood circulation. UMLS:C4021855|UMLS:C4020761 hp.json Carnitine levels abnormal http://purl.obolibrary.org/obo/HP_0010967 PATO:0055004 biolink:NamedThing decreased rate of occurrence A rate of occurrence that is relatively low. hp.json http://purl.obolibrary.org/obo/PATO_0055004 HP:0009966 biolink:PhenotypicFeature Complete duplication of the middle phalanx of the 3rd finger Complete duplication of the middle phalanx of middle finger. UMLS:C4024140 hp.json Complete duplication of the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0009966 HP:0010966 biolink:PhenotypicFeature Abnormal circulating fatty-acid anion concentration Any deviation from the normal concentration of a fatty acid anion in the blood circulation. UMLS:C4021209 hp.json Abnormality of fatty acid anion http://purl.obolibrary.org/obo/HP_0010966 GO:1990917 biolink:CellularComponent ooplasm The cytoplasm of an ovum. hp.json http://purl.obolibrary.org/obo/GO_1990917 HP:0010965 biolink:PhenotypicFeature Abnormal circulating phytanic acid concentration Any deviation from the normal concentration of phytanic acid in the blood circulation. UMLS:C4023623 hp.json Abnormal circulating phytanic acid level http://purl.obolibrary.org/obo/HP_0010965 HP:0009965 biolink:PhenotypicFeature Complete duplication of the distal phalanx of the 3rd finger Complete duplication of the distal phalanx of middle finger UMLS:C4024141 hp.json Complete duplication of the outermost bone of the 3rd finger http://purl.obolibrary.org/obo/HP_0009965 HP:0009968 biolink:PhenotypicFeature Partial duplication of the distal phalanx of the 3rd finger Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4021360 hp.json Bifid terminal phalanx of the 3rd finger|Notched outermost bone of the middle finger|Partial duplication of the outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0009968 HP:0010964 biolink:PhenotypicFeature Abnormal circulating long-chain fatty-acid concentration Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation. UMLS:C4023624 hp.json http://purl.obolibrary.org/obo/HP_0010964 HP:0007305 biolink:PhenotypicFeature CNS demyelination A loss of myelin from nerve fibers in the central nervous system. UMLS:C0338474 hp.json Demyelination in central white matter http://purl.obolibrary.org/obo/HP_0007305 HP:0010963 biolink:PhenotypicFeature Absence of stomach bubble on fetal sonography By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. UMLS:C4023625 hp.json Absent stomach bubble|Absence of stomach bubble on foetal sonography|Non-visualisation of the fetal stomach http://purl.obolibrary.org/obo/HP_0010963 HP:0009967 biolink:PhenotypicFeature Complete duplication of the proximal phalanx of the 3rd finger Complete duplication of the third proximal phalanx of hand. UMLS:C4024139 hp.json Complete duplication of the innermost bone of the 3rd finger http://purl.obolibrary.org/obo/HP_0009967 HP:0009962 biolink:PhenotypicFeature Duplication of the distal phalanx of the 3rd finger Partial or complete duplication of the distal phalanx of middle finger. UMLS:C4021363 hp.json Partial/complete duplication of the outermost bone of the middle finger|Partial/complete duplication of the distal phalanx of the 3rd finger http://purl.obolibrary.org/obo/HP_0009962 HP:0009961 biolink:PhenotypicFeature Partial duplication of the phalanges of the 3rd finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. UMLS:C4024142 hp.json Partial duplication of middle finger bones http://purl.obolibrary.org/obo/HP_0009961 HP:0009964 biolink:PhenotypicFeature Duplication of the proximal phalanx of the 3rd finger Partial or complete duplication of the third proximal phalanx of hand. UMLS:C4021361 hp.json Duplication of the proximal bone of the middle finger|Partial/complete duplication of the proximal phalanx of the 3rd finger http://purl.obolibrary.org/obo/HP_0009964 HP:0007301 biolink:PhenotypicFeature Oromotor apraxia Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control. UMLS:C4021845 hp.json Oral-motor apraxia http://purl.obolibrary.org/obo/HP_0007301 HP:0007302 biolink:PhenotypicFeature Bipolar affective disorder SNOMEDCT_US:13746004|UMLS:C0005586|MSH:D001714 hp.json Bipolar disorder http://purl.obolibrary.org/obo/HP_0007302 HP:0009963 biolink:PhenotypicFeature Duplication of the middle phalanx of the 3rd finger Partial or complete duplication of the middle phalanx of middle finger. UMLS:C4021362 hp.json Duplication of the middle bone of the middle finger|Partial/complete duplication of the middle phalanx of the 3rd finger http://purl.obolibrary.org/obo/HP_0009963 HP:0009960 biolink:PhenotypicFeature Complete duplication of the phalanges of the 3rd finger A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. UMLS:C4024143 hp.json Complete duplication of middle finger bones http://purl.obolibrary.org/obo/HP_0009960 HP:0010951 biolink:PhenotypicFeature Abnormal third ventricle morphology An abnormality of the third ventricle. UMLS:C4023629 hp.json Abnormality of the third ventricle http://purl.obolibrary.org/obo/HP_0010951 HP:0010950 biolink:PhenotypicFeature Abnormal fourth ventricle morphology An abnormality of the fourth ventricle. UMLS:C4023630 hp.json Abnormality of the fourth ventricle http://purl.obolibrary.org/obo/HP_0010950 HP:0010959 biolink:PhenotypicFeature Congenital pulmonary airway malformation Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles. SNOMEDCT_US:111318005|MSH:D015615|UMLS:C0010668 hp.json Cystic adenomatoid lung disease|Congenital cystic adenomatoid malformation of the lung|CCAM|Congenital cystic disease of the lung http://purl.obolibrary.org/obo/HP_0010959 HP:0010958 biolink:PhenotypicFeature Bilateral renal agenesis A bilateral form of agenesis of the kidney. SNOMEDCT_US:41962002|UMLS:C1609433|MSH:C536482 hp.json http://purl.obolibrary.org/obo/HP_0010958 HP:0010957 biolink:PhenotypicFeature Congenital posterior urethral valve A developmental defect resulting in an obstructing membrane in the posterior male urethra. UMLS:C0238506|SNOMEDCT_US:253900005 hp.json Posterior urethral valves|Posterior urethral valve http://purl.obolibrary.org/obo/HP_0010957 HP:0010956 biolink:PhenotypicFeature Fetal megacystis Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. MSH:C536139|UMLS:C2931117 hp.json Foetal megacystis http://purl.obolibrary.org/obo/HP_0010956 HP:0010955 biolink:PhenotypicFeature Dilatation of the bladder The presence of a dilated urinary bladder. UMLS:C0549253 hp.json http://purl.obolibrary.org/obo/HP_0010955 HP:0009977 biolink:PhenotypicFeature Duplication of the proximal phalanx of the 4th finger Partial or complete duplication of the fourth proximal phalanx of hand. UMLS:C4021356 hp.json Partial/complete duplication of the proximal phalanx of the 4th finger|Duplication of the proximal bone of the ring finger http://purl.obolibrary.org/obo/HP_0009977 HP:0007314 biolink:PhenotypicFeature obsolete White matter neuronal heterotopia hp.json http://purl.obolibrary.org/obo/HP_0007314 HP:0009976 biolink:PhenotypicFeature Duplication of the middle phalanx of the 4th finger Partial or complete duplication of the middle phalanx of ring finger. UMLS:C4021357 hp.json Partial/complete duplication of the middle phalanx of the 4th finger|Partial/complete duplication of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009976 HP:0010954 biolink:PhenotypicFeature Hypoplastic right heart Underdevelopment of the right-sided structures of the heart. SNOMEDCT_US:268180007|UMLS:C0344963|SNOMEDCT_US:39589002|UMLS:C0265856 hp.json Underdeveloped right heart|Hypoplastic right heart syndrome http://purl.obolibrary.org/obo/HP_0010954 HP:0009979 biolink:PhenotypicFeature Complete duplication of the middle phalanx of the 4th finger Complete duplication of the middle phalanx of ring finger. UMLS:C4024132 hp.json Complete duplication of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009979 HP:0010953 biolink:PhenotypicFeature Noncommunicating hydrocephalus A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed. SNOMEDCT_US:82346000|SNOMEDCT_US:230746009|UMLS:C0549423|MSH:D006849 hp.json http://purl.obolibrary.org/obo/HP_0010953 HP:0007316 biolink:PhenotypicFeature obsolete Involuntary writhing movements hp.json http://purl.obolibrary.org/obo/HP_0007316 HP:0010952 biolink:PhenotypicFeature Mild fetal ventriculomegaly A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637). UMLS:C4023628 hp.json Mild foetal ventriculomegaly http://purl.obolibrary.org/obo/HP_0010952 HP:0009978 biolink:PhenotypicFeature Complete duplication of the distal phalanx of the 4th finger Complete duplication of the distal phalanx of ring finger. UMLS:C4024133 hp.json Complete duplication of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009978 HP:0009973 biolink:PhenotypicFeature Complete duplication of the phalanges of the 4th finger A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. UMLS:C4024135 hp.json Complete duplication of the bones of the ring finger http://purl.obolibrary.org/obo/HP_0009973 HP:0009972 biolink:PhenotypicFeature Duplication of phalanx of 4th finger This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. UMLS:C4021359 hp.json Partial/complete duplication of phalanges of the 4th finger|Duplication of bones of the ring finger http://purl.obolibrary.org/obo/HP_0009972 HP:0007311 biolink:PhenotypicFeature Short stepped shuffling gait UMLS:C3805715 hp.json Short stepped shuffling walk http://purl.obolibrary.org/obo/HP_0007311 HP:0009975 biolink:PhenotypicFeature Duplication of the distal phalanx of the 4th finger Partial or complete duplication of the distal phalanx of ring finger. UMLS:C4021358 hp.json Partial/complete duplication of the distal phalanx of the 4th finger|Partial/complete duplication of the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009975 HP:0009974 biolink:PhenotypicFeature Partial duplication of the phalanges of the 4th finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. UMLS:C4024134 hp.json Partial duplication of the bones of the ring finger http://purl.obolibrary.org/obo/HP_0009974 HP:0007313 biolink:PhenotypicFeature Cerebral degeneration SNOMEDCT_US:52522001|UMLS:C0154671|SNOMEDCT_US:418143002 hp.json Neuroaxonal degeneration in the brain http://purl.obolibrary.org/obo/HP_0007313 HP:0009971 biolink:PhenotypicFeature Polydactyly affecting the 4th finger UMLS:C4024136 hp.json Extra ring finger http://purl.obolibrary.org/obo/HP_0009971 HP:0009970 biolink:PhenotypicFeature Partial duplication of the proximal phalanx of the 3rd finger Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4024137 hp.json Partial duplication of the proximal bone of the middle finger http://purl.obolibrary.org/obo/HP_0009970 GO:0001873 biolink:MolecularActivity polysaccharide immune receptor activity Combining with a polysaccharide and transmitting the signal to initiate an innate immune response. A polysaccharide is a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. hp.json polysaccharide receptor activity http://purl.obolibrary.org/obo/GO_0001873 HP:0010940 biolink:PhenotypicFeature Aplasia/Hypoplasia of the nasal bone Absence or underdevelopment of the nasal bone. UMLS:C4023636 hp.json http://purl.obolibrary.org/obo/HP_0010940 HP:0010948 biolink:PhenotypicFeature Abnormal fetal cardiovascular morphology A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. UMLS:C4021210 hp.json Abnormality of the fetal cardiovascular system|Abnormality of the foetal circulation system|Abnormality of the foetal cardiovascular system|Abnormality of the fetal circulation system http://purl.obolibrary.org/obo/HP_0010948 HP:0009948 biolink:PhenotypicFeature Duplication of the distal phalanx of the 2nd finger Partial or complete duplication of the distal phalanx of index finger. UMLS:C4021367 hp.json Partial/complete duplication of the distal phalanx of the 2nd finger|Partial/complete duplication of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009948 HP:0009947 biolink:PhenotypicFeature Duplication of the proximal phalanx of the 2nd finger Partial or complete duplication of the second proximal phalanx of hand. UMLS:C4021368 hp.json Partial/complete duplication of the proximal phalanx of the 2nd finger|Duplication of the proximal bone of the index finger http://purl.obolibrary.org/obo/HP_0009947 HP:0010947 biolink:PhenotypicFeature Abnormality of ductus venosus blood flow A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus. UMLS:C4023632 hp.json http://purl.obolibrary.org/obo/HP_0010947 HP:0010946 biolink:PhenotypicFeature Dilatation of the renal pelvis The presence of dilatation of the renal pelvis. UMLS:C1868864 hp.json http://purl.obolibrary.org/obo/HP_0010946 HP:0009949 biolink:PhenotypicFeature Duplication of the middle phalanx of the 2nd finger Partial or complete duplication of the middle phalanx of index finger. UMLS:C4021366 hp.json Partial/complete duplication of the middle bone of the index finger|Partial/complete duplication of the middle phalanx of the 2nd finger http://purl.obolibrary.org/obo/HP_0009949 HP:0010945 biolink:PhenotypicFeature Fetal pyelectasis Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. UMLS:C2317073|SNOMEDCT_US:430035004|MSH:D058536 hp.json Mild fetal hydronephrosis|Foetal renal pelvic dilatation|Fetal renal pelvic dilatation|Foetal pyelectasis|Mild foetal hydronephrosis http://purl.obolibrary.org/obo/HP_0010945 HP:0010944 biolink:PhenotypicFeature Abnormal renal pelvis morphology An abnormality of the renal pelvis. UMLS:C4023633 hp.json Abnormality of the renal pelvis http://purl.obolibrary.org/obo/HP_0010944 HP:0009944 biolink:PhenotypicFeature Partial duplication of thumb phalanx A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. UMLS:C4082168 hp.json Notching of thumb phalanges|Partial duplication of the thumb bones|Partial duplication of the phalanges of the thumb|Bifid thumb http://purl.obolibrary.org/obo/HP_0009944 HP:0009943 biolink:PhenotypicFeature Complete duplication of thumb phalanx A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. UMLS:C3554724 hp.json Complete duplication of the phalanges of the thumb|Digitalization of thumbs|Digitalization of thumb|Complete duplication of thumb bones http://purl.obolibrary.org/obo/HP_0009943 HP:0010943 biolink:PhenotypicFeature Echogenic fetal bowel Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. UMLS:C2936423|MSH:D058535 hp.json Echogenic foetal bowel|Echogenic bowel http://purl.obolibrary.org/obo/HP_0010943 HP:0009946 biolink:PhenotypicFeature Polydactyly affecting the 2nd finger UMLS:C4024152 hp.json Extra index finger http://purl.obolibrary.org/obo/HP_0009946 HP:0010942 biolink:PhenotypicFeature Echogenic intracardiac focus A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart. UMLS:C4023634 hp.json http://purl.obolibrary.org/obo/HP_0010942 HP:0010941 biolink:PhenotypicFeature Aplasia of the nasal bone Absence of the nasal bone. MSH:C562753|SNOMEDCT_US:91900007|UMLS:C4023635|UMLS:C0339851|UMLS:C0339850 hp.json Missing nasal bone|Lack of development of the nasal bone|Absence of the nasal bone|Agenesis of the nasal bone|Failure of development of the nasal bone http://purl.obolibrary.org/obo/HP_0010941 HP:0009945 biolink:PhenotypicFeature Duplication of phalanx of 2nd finger This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. UMLS:C4021369 hp.json Duplication of the bones of index finger|Partial/complete duplication of phalanges of the 2nd finger http://purl.obolibrary.org/obo/HP_0009945 HP:0009940 biolink:PhenotypicFeature Asymmetry of the mandible Lack of symmetry between the left and right mandible. UMLS:C4082201|UMLS:C0399518|SNOMEDCT_US:235082006 hp.json Deviation of mandible|Tilted lower jaw|Crooked lower jaw|Canted mandible|Uneven mandible|Asymmetry of lower jaw|Lower jaw shifted to one side|Tilted mandible|Canted lower jaw|Uneven lower jaw|Deviation of the lower jaw|Deviation of the mandible|Deviation of lower jaw http://purl.obolibrary.org/obo/HP_0009940 hposlim_core HP:0009942 biolink:PhenotypicFeature Duplication of thumb phalanx Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4021370 hp.json Duplicated thumbs|Duplication of phalanx of thumb|Complete/partial duplication of phalanges of the thumb|Duplicated thumb http://purl.obolibrary.org/obo/HP_0009942 HP:0009941 biolink:PhenotypicFeature Asymmetry of the mouth The presence of an asymmetric mouth. UMLS:C4024153 hp.json Asymmetry of oral cavity|Canted mouth|Uneven mouth|Tilted mouth|Crooked mouth|Asymmetry of the mouth http://purl.obolibrary.org/obo/HP_0009941 hposlim_core GO:0001878 biolink:BiologicalProcess response to yeast Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a yeast species. hp.json http://purl.obolibrary.org/obo/GO_0001878 HP:0010949 biolink:PhenotypicFeature Abnormality of umbilical vein blood flow A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein. UMLS:C4023631 hp.json http://purl.obolibrary.org/obo/HP_0010949 GO:0098796 biolink:CellularComponent membrane protein complex Any protein complex that is part of a membrane. hp.json http://purl.obolibrary.org/obo/GO_0098796 goslim_metagenomics GO:0001885 biolink:BiologicalProcess endothelial cell development The progression of an endothelial cell over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0001885 GO:0098797 biolink:CellularComponent plasma membrane protein complex Any protein complex that is part of the plasma membrane. hp.json http://purl.obolibrary.org/obo/GO_0098797 GO:0001886 biolink:BiologicalProcess endothelial cell morphogenesis The change in form (cell shape and size) that occurs during the differentiation of an endothelial cell. hp.json http://purl.obolibrary.org/obo/GO_0001886 GO:0098794 biolink:CellularComponent postsynapse The part of a synapse that is part of the post-synaptic cell. hp.json http://purl.obolibrary.org/obo/GO_0098794 goslim_synapse GO:0098793 biolink:CellularComponent presynapse The part of a synapse that is part of the presynaptic cell. hp.json presynaptic terminal http://purl.obolibrary.org/obo/GO_0098793 goslim_synapse HP:0032300 biolink:PhenotypicFeature Increased circulating IgG4 level An abnormally increased concentration of the IgG4 subtype in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032300 HP:0032301 biolink:PhenotypicFeature Genital warts Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress. hp.json http://purl.obolibrary.org/obo/HP_0032301 HP:0032302 biolink:PhenotypicFeature Kappa Bence Jones proteinuria The presence of free monoclonal kappa immunoglobulin light chains in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032302 HP:0010937 biolink:PhenotypicFeature Abnormal nasal skeleton morphology An abnormality of the nasal skeleton. UMLS:C4280361|UMLS:C4023639 hp.json Distortion of the nasal skeleton|Distortion of the bones of the nose|Deformity of the nasal skeleton|Malformation of the nasal skeleton|Abnormality of the nasal skeleton|Anomaly of the nasal skeleton|Malformation of the bones of the nose|Deformity of the bones of the nose http://purl.obolibrary.org/obo/HP_0010937 HP:0009959 biolink:PhenotypicFeature Duplication of phalanx of 3rd finger This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. UMLS:C4021364 hp.json Partial/complete duplication of phalanges of the 3rd finger|Duplication of middle finger bone http://purl.obolibrary.org/obo/HP_0009959 HP:0010936 biolink:PhenotypicFeature Abnormality of the lower urinary tract An abnormality of the lower urinary tract. UMLS:C4023640 hp.json http://purl.obolibrary.org/obo/HP_0010936 HP:0009958 biolink:PhenotypicFeature Polydactyly affecting the 3rd finger UMLS:C4024144 hp.json Extra middle finger http://purl.obolibrary.org/obo/HP_0009958 HP:0032308 biolink:PhenotypicFeature Increased circulating procalcitonin concentration An elevated concentration of procalcitonin in the blood circulation. hp.json Increased circulating procalcitonin level http://purl.obolibrary.org/obo/HP_0032308 HP:0032309 biolink:PhenotypicFeature Abnormal granulocyte count Any deviation from the normal cell count per volume of granulocytes in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032309 HP:0010935 biolink:PhenotypicFeature Abnormality of the upper urinary tract An abnormality of the upper urinary tract. UMLS:C4023641 hp.json Abnormality of the upper urinary tract http://purl.obolibrary.org/obo/HP_0010935 HP:0010934 biolink:PhenotypicFeature Xanthinuria An increased concentration of xanthine in the urine. UMLS:C0220988|SNOMEDCT_US:54627004|SNOMEDCT_US:190919008 hp.json Increased urinary xanthine http://purl.obolibrary.org/obo/HP_0010934 HP:0032303 biolink:PhenotypicFeature Lambda Bence Jones proteinuria The presence of free monoclonal lambda immunoglobulin light chains in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032303 HP:0010933 biolink:PhenotypicFeature Hyperxanthinemia An increased level of xanthine in the blood circulation. UMLS:C4023642 hp.json Increased circulating xanthine concentration http://purl.obolibrary.org/obo/HP_0010933 HP:0009955 biolink:PhenotypicFeature Partial duplication of the proximal phalanx of the 2nd finger Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4024147 hp.json Partial duplication of the proximal bones of the index finger http://purl.obolibrary.org/obo/HP_0009955 HP:0010932 biolink:PhenotypicFeature Abnormal circulating nucleobase concentration An abnormality of a nucleobase metabolic process. UMLS:C4020762|UMLS:C4023643 hp.json Abnormal nucleoside levels http://purl.obolibrary.org/obo/HP_0010932 HP:0032304 biolink:PhenotypicFeature Abnormal mannose-binding protein level Any deviation from the normal concentration of mannose-binding protein in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032304 HP:0009954 biolink:PhenotypicFeature Complete duplication of the proximal phalanx of the 2nd finger Complete duplication of the second proximal phalanx of hand. UMLS:C4024148 hp.json Complete duplication of the proximal bone of the index finger http://purl.obolibrary.org/obo/HP_0009954 HP:0010931 biolink:PhenotypicFeature Abnormal blood sodium concentration An abnormal concentration of sodium. UMLS:C4023644 hp.json Abnormal circulating Na concentration|Abnormal blood Na+ levels|Abnormality of sodium homeostasis http://purl.obolibrary.org/obo/HP_0010931 HP:0032305 biolink:PhenotypicFeature Decreased mannose-binding protein level An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032305 HP:0009957 biolink:PhenotypicFeature Complete duplication of the phalanges of the 2nd finger A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. UMLS:C4024145 hp.json Complete duplication of the bones of the index finger http://purl.obolibrary.org/obo/HP_0009957 HP:0032306 biolink:PhenotypicFeature Increased mannose-binding protein level An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032306 HP:0009956 biolink:PhenotypicFeature Partial duplication of the phalanges of the 2nd finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. UMLS:C4024146 hp.json Partial duplication of the bones of the index finger http://purl.obolibrary.org/obo/HP_0009956 HP:0010930 biolink:PhenotypicFeature Abnormal blood monovalent inorganic cation concentration An abnormality of monovalent inorganic cation homeostasis. UMLS:C4023645 hp.json Abnormality of monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/HP_0010930 HP:0009951 biolink:PhenotypicFeature Partial duplication of the distal phalanx of the 2nd finger Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4021365 hp.json Bifid terminal phalanx of the 2nd finger|Partial duplication of the outermost bone of the 2nd finger|Notched outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009951 HP:0009950 biolink:PhenotypicFeature Complete duplication of the distal phalanx of the 2nd finger Complete duplication of the distal phalanx of index finger. UMLS:C4024151 hp.json Complete duplication of the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0009950 HP:0009953 biolink:PhenotypicFeature Partial duplication of the middle phalanx of the 2nd finger Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4024149 hp.json Partial duplication of the middle bone of the index finger http://purl.obolibrary.org/obo/HP_0009953 HP:0009952 biolink:PhenotypicFeature Complete duplication of the middle phalanx of the 2nd finger Complete duplication of the middle phalanx of index finger. UMLS:C4024150 hp.json Complete duplication of the middle bone of the index finger http://purl.obolibrary.org/obo/HP_0009952 CHEBI:50584 biolink:ChemicalSubstance alkyl alcohol An aliphatic alcohol in which the aliphatic alkane chain is substituted by a hydroxy group at unspecified position. hp.json alkyl alcohols|hydroxyalkanes|hydroxyalkane http://purl.obolibrary.org/obo/CHEBI_50584 3_STAR HP:0010939 biolink:PhenotypicFeature Abnormal nasal bone morphology An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. UMLS:C4023637 hp.json Deformity of the nasal bones|Malformation of the nasal bones|Abnormality of the nasal bone|Anomaly of the nasal bones http://purl.obolibrary.org/obo/HP_0010939 GO:0098798 biolink:CellularComponent mitochondrial protein-containing complex A protein complex that is part of a mitochondrion. hp.json mitochondrial protein complex http://purl.obolibrary.org/obo/GO_0098798 gocheck_do_not_manually_annotate HP:0010938 biolink:PhenotypicFeature Abnormality of the external nose An abnormality of the external nose. UMLS:C2164724|UMLS:C4280360|UMLS:C4023638 hp.json Anomaly of the external nose|Deformity of the external nose|Malformation of the external nose|Abnormality of the external nose http://purl.obolibrary.org/obo/HP_0010938 HP:0007348 biolink:PhenotypicFeature Hypoplasia of the pyramidal tract UMLS:C1850871 hp.json http://purl.obolibrary.org/obo/HP_0007348 HP:0007343 biolink:PhenotypicFeature Abnormal morphology of the limbic system Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. UMLS:C1863392 hp.json Limbic malformation http://purl.obolibrary.org/obo/HP_0007343 HP:0007344 biolink:PhenotypicFeature Atrophy/Degeneration involving the spinal cord UMLS:C1843858 hp.json Atrophic and degenerative changes in the spinal cord http://purl.obolibrary.org/obo/HP_0007344 HP:0007346 biolink:PhenotypicFeature Subcortical white matter calcifications UMLS:C1851430 hp.json http://purl.obolibrary.org/obo/HP_0007346 HP:0007340 biolink:PhenotypicFeature Lower limb muscle weakness Weakness of the muscles of the legs. UMLS:C0427068|SNOMEDCT_US:249945007|UMLS:C1836296 hp.json Lower limb muscle weakness|Lower limb weakness|Lower extremity weakness|Muscle weakness in lower limbs|Leg weakness http://purl.obolibrary.org/obo/HP_0007340 HP:0007341 biolink:PhenotypicFeature Diffuse swelling of cerebral white matter UMLS:C1858855 hp.json http://purl.obolibrary.org/obo/HP_0007341 HP:0007360 biolink:PhenotypicFeature Aplasia/Hypoplasia of the cerebellum UMLS:C3279222 hp.json Absent/small cerebellum|Absent/underdeveloped cerebellum|Cerebellar hypoplasia/atrophy|Atrophy/Hypoplasia of the cerebellum|Atrophy/Degeneration affecting the cerebellum http://purl.obolibrary.org/obo/HP_0007360 HP:0010995 biolink:PhenotypicFeature Abnormal circulating dicarboxylic acid concentration Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. UMLS:C4023606 hp.json http://purl.obolibrary.org/obo/HP_0010995 HP:0010994 biolink:PhenotypicFeature Abnormal corpus striatum morphology Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. UMLS:C4023607 hp.json Abnormality of the neostriatum|Abnormality of the striatum|Abnormality of the striate nucleus http://purl.obolibrary.org/obo/HP_0010994 HP:0010993 biolink:PhenotypicFeature Abnormal cerebral subcortex morphology An abnormality of the cerebral subcortex. UMLS:C4021207 hp.json Abnormality of the cerebral medulla|Abnormality of the cerebral subcortex http://purl.obolibrary.org/obo/HP_0010993 HP:0010992 biolink:PhenotypicFeature Stress urinary incontinence Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing. UMLS:C0042025|SNOMEDCT_US:22220005|MSH:D014550 hp.json http://purl.obolibrary.org/obo/HP_0010992 HP:0010991 biolink:PhenotypicFeature Abnormal morphology of the abdominal musculature An abnormality of the abdominal musculature. UMLS:C4023608 hp.json Abnormality of the abdominal musculature http://purl.obolibrary.org/obo/HP_0010991 HP:0010990 biolink:PhenotypicFeature Abnormality of the common coagulation pathway An abnormality of blood coagulation, common pathway. UMLS:C4023609 hp.json http://purl.obolibrary.org/obo/HP_0010990 UBERON:0012504 biolink:AnatomicalEntity adventitia of esophagus An adventitia that is part of a esophagus. SCTID:85950006|FMA:63006 hp.json esophageal adventitia|tunica adventitia oesophageae|tunica adventitia (esophagus)|adventitia of oesophagus|esophagus adventitia|adventitious layer of esophagus http://purl.obolibrary.org/obo/UBERON_0012504 HP:0010999 biolink:PhenotypicFeature Aplasia of the optic tract UMLS:C4023603 hp.json Absent optic tract http://purl.obolibrary.org/obo/HP_0010999 HP:0007359 biolink:PhenotypicFeature Focal-onset seizure A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. MSH:D012640|SNOMEDCT_US:29753000|UMLS:C0751495 hp.json Focal onset seizure|Seizure affecting one half of brain|Focal seizures|Focal seizure|Partial seizure|Focal-onset seizures|Partial seizures http://purl.obolibrary.org/obo/HP_0007359 HP:0010998 biolink:PhenotypicFeature Increased susceptibility to spontaneous sister chromatid exchange An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells. UMLS:C4023604 hp.json http://purl.obolibrary.org/obo/HP_0010998 HP:0010997 biolink:PhenotypicFeature Chromosomal breakage induced by ionizing radiation Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. UMLS:C4021206 hp.json Chromosomal breakage induced by ionising radiation|Radiation-induced chromosome instability|Increased cellular radiosensitivity http://purl.obolibrary.org/obo/HP_0010997 HP:0010996 biolink:PhenotypicFeature Abnormal circulating monocarboxylic acid concentration Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation. UMLS:C4023605 hp.json http://purl.obolibrary.org/obo/HP_0010996 HP:0007354 biolink:PhenotypicFeature Amyotrophic lateral sclerosis MSH:D000690|SNOMEDCT_US:86044005|UMLS:C0002736 hp.json Lou Gehrig's disease http://purl.obolibrary.org/obo/HP_0007354 HP:0007350 biolink:PhenotypicFeature Hyperreflexia in upper limbs UMLS:C1843175 hp.json http://purl.obolibrary.org/obo/HP_0007350 HP:0007351 biolink:PhenotypicFeature Upper limb postural tremor A type of tremors that is triggered by holding an arm in a fixed position. UMLS:C1867138 hp.json Postural tremor of arms http://purl.obolibrary.org/obo/HP_0007351 HP:0007352 biolink:PhenotypicFeature Cerebellar calcifications UMLS:C1851431 hp.json http://purl.obolibrary.org/obo/HP_0007352 GO:0001831 biolink:BiologicalProcess trophectodermal cellular morphogenesis The morphogenesis of trophectoderm cells. hp.json trophectoderm cellular morphogenesis http://purl.obolibrary.org/obo/GO_0001831 GO:0001832 biolink:BiologicalProcess blastocyst growth An increase in size of a blastocyst due to expansion of the blastocoelic cavity cell shape changes and cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_0001832 HP:0010984 biolink:PhenotypicFeature Digenic inheritance A type of multifactorial inheritance governed by the simultaneous action of two gene loci. UMLS:C4023614 hp.json http://purl.obolibrary.org/obo/HP_0010984 HP:0010983 biolink:PhenotypicFeature Oligogenic inheritance A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform. MSH:D020412|UMLS:C1136026 hp.json http://purl.obolibrary.org/obo/HP_0010983 HP:0010982 biolink:PhenotypicFeature Polygenic inheritance A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. UMLS:C1148552|MSH:D020412 hp.json http://purl.obolibrary.org/obo/HP_0010982 HP:0010981 biolink:PhenotypicFeature Hypolipoproteinemia An abnormal decrease in the level of lipoprotein cholesterol in the blood. SNOMEDCT_US:267436001|UMLS:C0020623|MSH:D007009|SNOMEDCT_US:363140000 hp.json Lack of fat in blood http://purl.obolibrary.org/obo/HP_0010981 HP:0010980 biolink:PhenotypicFeature Hyperlipoproteinemia An abnormal increase in the level of lipoprotein cholesterol in the blood. UMLS:C0020476|MSH:D006951|SNOMEDCT_US:3744001 hp.json http://purl.obolibrary.org/obo/HP_0010980 CHEBI:62501 biolink:ChemicalSubstance folate(2-) The dicarboxylic acid dianion formed from folic acid by loss of a proton from each of the two carboxy groups in the glutamic acid moiety. MetaCyc:CPD-12826|PMCID:PMC8181341|PMID:34051149 hp.json folate|pteroyl-L-glutamate|pteroyl-L-monoglutamate|N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamate(2-)|pteroylglutamate|folate http://purl.obolibrary.org/obo/CHEBI_62501 3_STAR CHEBI:37578 biolink:ChemicalSubstance halide Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements. Wikipedia:Halide hp.json halides http://purl.obolibrary.org/obo/CHEBI_37578 3_STAR CHEBI:37577 biolink:ChemicalSubstance heteroatomic molecular entity A molecular entity consisting of two or more chemical elements. hp.json heteroatomic molecular entities|chemical compound http://purl.obolibrary.org/obo/CHEBI_37577 3_STAR HP:0010989 biolink:PhenotypicFeature Abnormality of the intrinsic pathway An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. UMLS:C4023610 hp.json http://purl.obolibrary.org/obo/HP_0010989 HP:0007325 biolink:PhenotypicFeature Generalized dystonia A type of dystonia that affects all or most of the body. SNOMEDCT_US:425492002|UMLS:C1848954 hp.json Generalised dystonia http://purl.obolibrary.org/obo/HP_0007325 HP:0009988 biolink:PhenotypicFeature Duplication of the distal phalanx of the 5th finger Partial or complete duplication of the distal phalanx of little finger. UMLS:C4021353 hp.json Duplication of the outermost little finger bone|Duplication of the outermost pinky finger bone|Partial/complete duplication of the distal phalanx of the 5th finger|Duplication of the outermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0009988 HP:0010988 biolink:PhenotypicFeature Abnormality of the extrinsic pathway An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. UMLS:C4023611 hp.json http://purl.obolibrary.org/obo/HP_0010988 HP:0009987 biolink:PhenotypicFeature Partial duplication of the phalanges of the 5th finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. UMLS:C4024127 hp.json Partial duplication of the little finger bone|Partial duplication of the pinky finger bone|Partial duplication of the pinkie finger bone http://purl.obolibrary.org/obo/HP_0009987 HP:0010987 biolink:PhenotypicFeature Abnormal cellular immune system morphology An abnormality of the morphology or counts of the cells that make up the immune system. UMLS:C4023612 hp.json http://purl.obolibrary.org/obo/HP_0010987 HP:0007326 biolink:PhenotypicFeature Progressive choreoathetosis UMLS:C1860216 hp.json http://purl.obolibrary.org/obo/HP_0007326 HP:0007327 biolink:PhenotypicFeature Mixed demyelinating and axonal polyneuropathy UMLS:C4024907 hp.json http://purl.obolibrary.org/obo/HP_0007327 HP:0007328 biolink:PhenotypicFeature Impaired pain sensation Reduced ability to perceive painful stimuli. UMLS:C1837522 hp.json Decreased pain sensation|Decreased pinprick sensation|Impaired pain sensation http://purl.obolibrary.org/obo/HP_0007328 HP:0009989 biolink:PhenotypicFeature Duplication of the middle phalanx of the 5th finger Partial or complete duplication of the fifth middle phalanx of hand. UMLS:C4021352 hp.json Duplication of the middle pinky finger bone|Partial/complete duplication of the middle phalanx of the 5th finger|Duplication of the middle little finger bone|Duplication of the middle pinkie finger bone http://purl.obolibrary.org/obo/HP_0009989 HP:0010985 biolink:PhenotypicFeature obsolete Gonosomal inheritance hp.json http://purl.obolibrary.org/obo/HP_0010985 GO:0001837 biolink:BiologicalProcess epithelial to mesenchymal transition A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. hp.json epithelial-mesenchymal transition|mesenchymal cell differentiation from epithelial cell|EMT http://purl.obolibrary.org/obo/GO_0001837 HP:0007321 biolink:PhenotypicFeature Deep white matter hypodensities Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. UMLS:C1856979 hp.json Deep cerebral white matter hypodensities http://purl.obolibrary.org/obo/HP_0007321 GO:0001838 biolink:BiologicalProcess embryonic epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. hp.json http://purl.obolibrary.org/obo/GO_0001838 HP:0009983 biolink:PhenotypicFeature Partial duplication of the proximal phalanx of the 4th finger Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4024129 hp.json Partial duplication of the innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0009983 GO:0001839 biolink:BiologicalProcess neural plate morphogenesis The process in which the anatomical structures of the neural plate are generated and organized. The neural plate is a specialized region of columnar epithelial cells in the dorsal ectoderm that will give rise to nervous system tissue. hp.json http://purl.obolibrary.org/obo/GO_0001839 HP:0009986 biolink:PhenotypicFeature Complete duplication of the phalanges of the 5th finger A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. UMLS:C4024128 hp.json Complete duplication of the little finger bone|Complete duplication of the pinky finger bone|Complete duplication of the pinkie finger bone http://purl.obolibrary.org/obo/HP_0009986 HP:0009985 biolink:PhenotypicFeature Duplication of phalanx of 5th finger This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. UMLS:C4021354 hp.json Partial/complete duplication of phalanges of the 5th finger|Partial/complete duplication of pinky finger bone|Partial/complete duplication of little finger bone|Partial/complete duplication of pinkie finger bone http://purl.obolibrary.org/obo/HP_0009985 HP:0009980 biolink:PhenotypicFeature Complete duplication of the proximal phalanx of the 4th finger Complete duplication of the fourth proximal phalanx of hand. UMLS:C4024131 hp.json Complete duplication of the proximal bone of the ring finger http://purl.obolibrary.org/obo/HP_0009980 GO:0001833 biolink:BiologicalProcess inner cell mass cell proliferation The proliferation of cells in the inner cell mass. hp.json http://purl.obolibrary.org/obo/GO_0001833 GO:0001834 biolink:BiologicalProcess trophectodermal cell proliferation The proliferation of cells in the trophectoderm. hp.json trophectoderm cell proliferation http://purl.obolibrary.org/obo/GO_0001834 HP:0009982 biolink:PhenotypicFeature Partial duplication of the middle phalanx of the 4th finger Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4024130 hp.json Partial duplication of the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0009982 HP:0009981 biolink:PhenotypicFeature Partial duplication of the distal phalanx of the 4th finger Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4021355 hp.json Partial duplication of the outermost bone of the ring finger|Notched outermost bone of the ring finger|Bifid terminal phalanx of the 4th finger http://purl.obolibrary.org/obo/HP_0009981 GO:0001840 biolink:BiologicalProcess neural plate development The process whose specific outcome is the progression of the neural plate over time, from its formation to the mature structure. The neural plate is a flat, thickened layer of ectodermal cells. The underlying dorsal mesoderm signals the ectodermal cells above it to elongate into columnar neural plate cells. The neural plate subsequently develops into the neural tube, which gives rise to the central nervous system. hp.json http://purl.obolibrary.org/obo/GO_0001840 GO:0001841 biolink:BiologicalProcess neural tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. Wikipedia:Neurulation hp.json neural tube morphogenesis|neurulation http://purl.obolibrary.org/obo/GO_0001841 GO:0001842 biolink:BiologicalProcess neural fold formation The process in which the neural fold is formed. The edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove. hp.json neural groove formation http://purl.obolibrary.org/obo/GO_0001842 GO:0001843 biolink:BiologicalProcess neural tube closure The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. hp.json http://purl.obolibrary.org/obo/GO_0001843 HP:0010972 biolink:PhenotypicFeature Anemia of inadequate production A kind of anemia characterized by inadequate production of erythrocytes. UMLS:C0678199|SNOMEDCT_US:70730006|UMLS:C0392708 hp.json Dyserythropoietic anaemia|Dyserythropoietic anemia|Anemia, dyserythropoietic|Ineffective erythropoiesis|Defective erythropoiesis|Anaemia of inadequate production http://purl.obolibrary.org/obo/HP_0010972 HP:0010971 biolink:PhenotypicFeature Absence of Lutheran antigen on erythrocytes Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. UMLS:C4023619 hp.json http://purl.obolibrary.org/obo/HP_0010971 HP:0010970 biolink:PhenotypicFeature Blood group antigen abnormality An abnormality of an erythrocyte cell surface molecule. UMLS:C4023620 hp.json http://purl.obolibrary.org/obo/HP_0010970 HP:0010979 biolink:PhenotypicFeature Abnormality of lipoprotein cholesterol concentration An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. UMLS:C4023615 hp.json Abnormality of the level of lipoprotein cholesterol http://purl.obolibrary.org/obo/HP_0010979 HP:0010978 biolink:PhenotypicFeature Abnormality of immune system physiology A functional abnormality of the immune system. UMLS:C4023616 hp.json http://purl.obolibrary.org/obo/HP_0010978 HP:0010977 biolink:PhenotypicFeature Abnormal phagocytosis An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation. UMLS:C4023617 hp.json http://purl.obolibrary.org/obo/HP_0010977 HP:0009999 biolink:PhenotypicFeature Partial duplication of the phalanx of hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. UMLS:C4024120 hp.json Partial duplication of hand bones http://purl.obolibrary.org/obo/HP_0009999 HP:0009998 biolink:PhenotypicFeature Complete duplication of phalanx of hand A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. UMLS:C4024121 hp.json Complete duplication of hand bones http://purl.obolibrary.org/obo/HP_0009998 HP:0010976 biolink:PhenotypicFeature B lymphocytopenia An abnormal decrease from the normal count of B cells. UMLS:C1855067 hp.json Reduction in B cell number|B cell lymphopenia|B cell deficiency|Decreased B cell count|Low B cell count http://purl.obolibrary.org/obo/HP_0010976 HP:0007338 biolink:PhenotypicFeature Hypermetric saccades A saccade that overshoots the target with the dynamic saccade. UMLS:C0423083|SNOMEDCT_US:246769000 hp.json http://purl.obolibrary.org/obo/HP_0007338 HP:0010975 biolink:PhenotypicFeature Abnormal B cell count A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. UMLS:C4021208 hp.json Abnormality of B cell numbers|Abnormal number of B cells|Abnormal numbers of B cells|Abnormality of B cell count http://purl.obolibrary.org/obo/HP_0010975 HP:0010974 biolink:PhenotypicFeature Abnormal myeloid leukocyte morphology An abnormality of myeloid leukocytes. UMLS:C4023618 hp.json Abnormality of myeloid leukocytes http://purl.obolibrary.org/obo/HP_0010974 HP:0009995 biolink:PhenotypicFeature Partial duplication of the middle phalanx of the 5th finger Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4024123 hp.json Partial duplication of the middle little finger bone|Partial duplication of the middle pinkie finger bone|Partial duplication of the middle pinky finger bone http://purl.obolibrary.org/obo/HP_0009995 HP:0007332 biolink:PhenotypicFeature Focal hemifacial clonic seizure Focal seizure characterized at onset by clonic movements affecting half of the face. UMLS:C4024906 hp.json Hemifacial seizures http://purl.obolibrary.org/obo/HP_0007332 HP:0007333 biolink:PhenotypicFeature Hypoplasia of the frontal lobes Underdevelopment of the frontal lobe of the cerebrum. UMLS:C1849172 hp.json Underdeveloped frontal lobe|Frontal lobe hypoplasia|Hypoplastic frontal lobes http://purl.obolibrary.org/obo/HP_0007333 HP:0009994 biolink:PhenotypicFeature Partial duplication of the distal phalanx of the 5th finger Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4021350 hp.json Partial duplication of outermost pinky finger bone|Notched outermost pinky finger bone|Partial duplication of outermost little finger bone|Bifid terminal phalanx of the 5th finger|Partial duplication of outermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0009994 HP:0007334 biolink:PhenotypicFeature Bilateral tonic-clonic seizure with focal onset A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. UMLS:C0877017 hp.json Focal to bilateral tonic-clonic seizure|Generalized tonic-clonic seizure with focal onset|Partial seizure with secondary generalisation|Secondary generalised tonic clonic seizures|Partial seizures with secondary generalization|Generalized tonic-clonic seizures with focal onset|Secondarily generalized tonic-clonic seizure|Secondarily generalised tonic-clonic seizures|Focal seizure with secondary generalization|Generalized tonic-clonic seizure with partial onset|Generalised tonic-clonic seizure with focal onset|Partial seizure with secondary generalization|Secondary generalized tonic-clonic seizures|Partial seizures with secondary generalisation|Secondarily generalised tonic-clonic seizure|Secondary generalized tonic clonic seizures|Generalised tonic-clonic seizure with partial onset|Focal seizure with secondary generalisation|Secondary generalised tonic-clonic seizures|Generalised tonic-clonic seizures with focal onset http://purl.obolibrary.org/obo/HP_0007334 HP:0009997 biolink:PhenotypicFeature Duplication of phalanx of hand This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. UMLS:C4021349 hp.json Duplication of finger bones http://purl.obolibrary.org/obo/HP_0009997 GO:1990904 biolink:CellularComponent ribonucleoprotein complex A macromolecular complex that contains both RNA and protein molecules. Wikipedia:Ribonucleoprotein hp.json RNA-protein complex|protein-RNA complex|extracellular ribonucleoprotein complex|RNP|intracellular ribonucleoprotein complex http://purl.obolibrary.org/obo/GO_1990904 goslim_pir HP:0009996 biolink:PhenotypicFeature Partial duplication of the proximal phalanx of the 5th finger Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. UMLS:C4024122 hp.json Partial duplication of the innermost pinky finger bone|Partial duplication of the innermost little finger bone|Partial duplication of the innermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0009996 HP:0007335 biolink:PhenotypicFeature Recurrent encephalopathy Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. UMLS:C1850719 hp.json Recurrent cerebellar and extrapyramidal encephalopathy http://purl.obolibrary.org/obo/HP_0007335 HP:0009991 biolink:PhenotypicFeature Complete duplication of the distal phalanx of the 5th finger Complete duplication of the distal phalanx of little finger. UMLS:C4024126 hp.json Complete duplication of the outermost little finger bone|Complete duplication of the outermost pinkie finger bone|Complete duplication of the outermost pinky finger bone http://purl.obolibrary.org/obo/HP_0009991 HP:0009990 biolink:PhenotypicFeature Duplication of the proximal phalanx of the 5th finger Partial or complete duplication of the fifth proximal phalanx of hand. UMLS:C4021351 hp.json Duplication of the innermost pinky finger bone|Duplication of the innermost little finger bone|Partial/complete duplication of the proximal phalanx of the 5th finger|Duplication of the innermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0009990 HP:0009993 biolink:PhenotypicFeature Complete duplication of the proximal phalanx of the 5th finger Complete duplication of the fifth proximal phalanx of hand. UMLS:C4024124 hp.json Complete duplication of the innermost pinkie finger bone|Complete duplication of the innermost pinky finger bone|Complete duplication of the innermost little finger bone http://purl.obolibrary.org/obo/HP_0009993 HP:0007330 biolink:PhenotypicFeature Frontal encephalocele SNOMEDCT_US:253103006|UMLS:C0431289|MSH:D004677 hp.json http://purl.obolibrary.org/obo/HP_0007330 HP:0009992 biolink:PhenotypicFeature Complete duplication of the middle phalanx of the 5th finger Complete duplication of the fifth middle phalanx of hand. UMLS:C4024125 hp.json Complete duplication of the middle pinky finger bone|Complete duplication of the middle little finger bone|Complete duplication of the middle pinkie finger bone http://purl.obolibrary.org/obo/HP_0009992 CHEBI:191220 biolink:ChemicalSubstance (2S)-methylsuccinate(2-) The dicarboxylate anion of (S)-methylsuccinic acid; major species at pH 7.3. hp.json (2S)-methylsuccinate http://purl.obolibrary.org/obo/CHEBI_191220 2_STAR GO:0050789 biolink:BiologicalProcess regulation of biological process Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. hp.json regulation of physiological process http://purl.obolibrary.org/obo/GO_0050789 goslim_candida|gocheck_do_not_annotate|goslim_pir|goslim_aspergillus GO:1904951 biolink:BiologicalProcess positive regulation of establishment of protein localization Any process that activates or increases the frequency, rate or extent of establishment of protein localization. hp.json positive regulation of protein positioning|up-regulation of establishment of protein localization|upregulation of protein recruitment|upregulation of establishment of protein localisation|up regulation of establishment of protein localization|upregulation of protein positioning|activation of establishment of protein localization|up-regulation of protein recruitment|upregulation of establishment of protein localization|up-regulation of establishment of protein localisation|up regulation of protein recruitment|up-regulation of protein positioning|activation of protein recruitment|positive regulation of protein recruitment|up regulation of establishment of protein localisation|up regulation of protein positioning|activation of establishment of protein localisation|positive regulation of establishment of protein localisation|activation of protein positioning http://purl.obolibrary.org/obo/GO_1904951 GO:1904950 biolink:BiologicalProcess negative regulation of establishment of protein localization Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization. hp.json down-regulation of protein recruitment|negative regulation of protein recruitment|downregulation of establishment of protein localization|inhibition of establishment of protein localization|down-regulation of establishment of protein localisation|negative regulation of establishment of protein localisation|negative regulation of protein positioning|down-regulation of protein positioning|down regulation of protein recruitment|down regulation of establishment of protein localisation|down regulation of protein positioning|downregulation of protein recruitment|inhibition of protein recruitment|inhibition of establishment of protein localisation|downregulation of establishment of protein localisation|down-regulation of establishment of protein localization|inhibition of protein positioning|downregulation of protein positioning|down regulation of establishment of protein localization http://purl.obolibrary.org/obo/GO_1904950 GO:0035148 biolink:BiologicalProcess tube formation Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. hp.json tube lumen formation|lumen formation in an anatomical structure http://purl.obolibrary.org/obo/GO_0035148 GO:0098728 biolink:BiologicalProcess germline stem cell asymmetric division The self-renewing division of a germline stem cell, to produce a daughter stem cell and a daughter germ cell which will divide to form one or more gametes. hp.json http://purl.obolibrary.org/obo/GO_0098728 GO:0098723 biolink:CellularComponent skeletal muscle myofibril A myofibril of a skeletal muscle fiber. hp.json http://purl.obolibrary.org/obo/GO_0098723 GO:0098722 biolink:BiologicalProcess asymmetric stem cell division Division of a stem cell during which it retains its identity and buds off a daughter cell with a new identity. hp.json http://purl.obolibrary.org/obo/GO_0098722 GO:0050796 biolink:NamedThing regulation of insulin secretion hp.json http://purl.obolibrary.org/obo/GO_0050796 GO:0050794 biolink:BiologicalProcess regulation of cellular process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. hp.json regulation of cellular physiological process http://purl.obolibrary.org/obo/GO_0050794 gocheck_do_not_annotate GO:0050795 biolink:BiologicalProcess regulation of behavior Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. hp.json regulation of behaviour http://purl.obolibrary.org/obo/GO_0050795 GO:0050793 biolink:BiologicalProcess regulation of developmental process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). hp.json http://purl.obolibrary.org/obo/GO_0050793 GO:0050790 biolink:BiologicalProcess regulation of catalytic activity Any process that modulates the activity of an enzyme. hp.json regulation of enzyme activity|regulation of metalloenzyme activity http://purl.obolibrary.org/obo/GO_0050790 goslim_chembl GO:0060136 biolink:BiologicalProcess embryonic process involved in female pregnancy A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother. hp.json http://purl.obolibrary.org/obo/GO_0060136 GO:1904989 biolink:BiologicalProcess positive regulation of endothelial cell activation Any process that activates or increases the frequency, rate or extent of endothelial cell activation. hp.json activation of endothelial cell activation|upregulation of endothelial cell activation|up-regulation of endothelial cell activation|up regulation of endothelial cell activation http://purl.obolibrary.org/obo/GO_1904989 GO:1904988 biolink:BiologicalProcess negative regulation of endothelial cell activation Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell activation. hp.json down-regulation of endothelial cell activation|down regulation of endothelial cell activation|inhibition of endothelial cell activation|downregulation of endothelial cell activation http://purl.obolibrary.org/obo/GO_1904988 GO:1904987 biolink:BiologicalProcess regulation of endothelial cell activation Any process that modulates the frequency, rate or extent of endothelial cell activation. hp.json http://purl.obolibrary.org/obo/GO_1904987 GO:0035112 biolink:BiologicalProcess genitalia morphogenesis The process in which the anatomical structures of genitalia are generated and organized. The genitalia are the organs of reproduction or generation, external and internal. hp.json genital morphogenesis http://purl.obolibrary.org/obo/GO_0035112 GO:0060123 biolink:BiologicalProcess regulation of growth hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell. hp.json http://purl.obolibrary.org/obo/GO_0060123 GO:0060124 biolink:BiologicalProcess positive regulation of growth hormone secretion Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell. hp.json http://purl.obolibrary.org/obo/GO_0060124 GO:0060125 biolink:BiologicalProcess negative regulation of growth hormone secretion Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell. hp.json http://purl.obolibrary.org/obo/GO_0060125 GO:0072132 biolink:BiologicalProcess mesenchyme morphogenesis The process in which the anatomical structures of a mesenchymal tissue are generated and organized. A mesenchymal tissue is made up of loosely packed stellate cells. hp.json http://purl.obolibrary.org/obo/GO_0072132 GO:1902339 biolink:BiologicalProcess positive regulation of apoptotic process involved in morphogenesis Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis. hp.json up regulation of apoptosis involved in morphogenesis|up regulation of apoptosis involved in development|positive regulation of apoptosis involved in morphogenesis|positive regulation of apoptosis involved in development|up-regulation of apoptotic process involved in morphogenesis|up-regulation of morphogenetic apoptosis|up regulation of apoptotic process involved in morphogenesis|upregulation of apoptosis involved in morphogenesis|upregulation of apoptosis involved in development|activation of apoptotic process involved in morphogenesis|activation of apoptosis involved in development|activation of apoptosis involved in morphogenesis|up regulation of morphogenetic apoptosis|positive regulation of morphogenetic apoptosis|upregulation of apoptotic process involved in morphogenesis|up-regulation of apoptosis involved in development|upregulation of morphogenetic apoptosis|up-regulation of apoptosis involved in morphogenesis|activation of morphogenetic apoptosis http://purl.obolibrary.org/obo/GO_1902339 GO:1902337 biolink:BiologicalProcess regulation of apoptotic process involved in morphogenesis Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis. hp.json regulation of morphogenetic apoptosis|regulation of apoptosis involved in morphogenesis|regulation of apoptosis involved in development http://purl.obolibrary.org/obo/GO_1902337 GO:1902338 biolink:BiologicalProcess negative regulation of apoptotic process involved in morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis. hp.json down regulation of morphogenetic apoptosis|inhibition of apoptosis involved in morphogenesis|inhibition of apoptotic process involved in morphogenesis|downregulation of apoptotic process involved in morphogenesis|inhibition of apoptosis involved in development|downregulation of morphogenetic apoptosis|negative regulation of apoptosis involved in morphogenesis|negative regulation of apoptosis involved in development|down-regulation of apoptosis involved in development|down-regulation of apoptosis involved in morphogenesis|down regulation of apoptosis involved in morphogenesis|down regulation of apoptosis involved in development|inhibition of morphogenetic apoptosis|down-regulation of apoptotic process involved in morphogenesis|downregulation of apoptosis involved in morphogenesis|down-regulation of morphogenetic apoptosis|negative regulation of morphogenetic apoptosis|downregulation of apoptosis involved in development|down regulation of apoptotic process involved in morphogenesis http://purl.obolibrary.org/obo/GO_1902338 HP:0009929 biolink:PhenotypicFeature Abnormality of the columella An abnormality of the columella. UMLS:C4024158 hp.json Anomaly of the columella|Deformity of the columella|Malformation of the columella http://purl.obolibrary.org/obo/HP_0009929 HP:0009926 biolink:PhenotypicFeature Epiphora Abnormally increased lacrimation, that is, excessive tearing (watering eye). MSH:D007766|SNOMEDCT_US:193982009|SNOMEDCT_US:418035005|UMLS:C0152227 hp.json Increased tears|Watery eyes|Tearing|Increased lacrimation http://purl.obolibrary.org/obo/HP_0009926 hposlim_core GO:1902340 biolink:BiologicalProcess negative regulation of chromosome condensation Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation. hp.json down regulation of nuclear chromosome condensation|inhibition of nuclear chromosome condensation|down-regulation of chromosome condensation|downregulation of eukaryotic chromosome condensation|downregulation of nuclear chromosome condensation|down regulation of chromosome condensation|down regulation of eukaryotic chromosome condensation|inhibition of eukaryotic chromosome condensation|inhibition of chromosome condensation|downregulation of chromosome condensation|negative regulation of eukaryotic chromosome condensation|down-regulation of eukaryotic chromosome condensation|negative regulation of nuclear chromosome condensation|down-regulation of nuclear chromosome condensation http://purl.obolibrary.org/obo/GO_1902340 HP:0010926 biolink:PhenotypicFeature Aculeiform cataract A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. MSH:C566162|UMLS:C1861832 hp.json Needle-shaped cataract|Fasciculiform cataract|Frosted cataract http://purl.obolibrary.org/obo/HP_0010926 HP:0010925 biolink:PhenotypicFeature Nuclear punctate cataract UMLS:C4023649 hp.json http://purl.obolibrary.org/obo/HP_0010925 GO:0060156 biolink:NamedThing milk ejection reflex hp.json http://purl.obolibrary.org/obo/GO_0060156 HP:0009928 biolink:PhenotypicFeature Thick nasal alae Increase in bulk of the ala nasi. UMLS:C1844809 hp.json Thickening of the alae nasi|Ala nasi, thick http://purl.obolibrary.org/obo/HP_0009928 hposlim_core HP:0010924 biolink:PhenotypicFeature Posterior cortical cataract A cataract that affects the posterior part of the cortex of the lens. UMLS:C4023650 hp.json http://purl.obolibrary.org/obo/HP_0010924 HP:0009927 biolink:PhenotypicFeature Aplasia of the nose Complete absence of all nasal structures. MSH:C537438|UMLS:C0265740|SNOMEDCT_US:111317000|UMLS:C4280391 hp.json Failure of development of nose|Missing nose|Underdevelopment of nose|Arrhinia|Absent nose|Nasal underdevelopment http://purl.obolibrary.org/obo/HP_0009927 hposlim_core HP:0010923 biolink:PhenotypicFeature Anterior subcapsular cataract A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. SNOMEDCT_US:315352000|UMLS:C1112768 hp.json http://purl.obolibrary.org/obo/HP_0010923 HP:0009922 biolink:PhenotypicFeature Vascular remnant arising from the disc Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. UMLS:C4024160 hp.json Persistent hyaloid artery|Persistence of the hyaloid artery http://purl.obolibrary.org/obo/HP_0009922 HP:0010922 biolink:PhenotypicFeature Membranous cataract A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. MSH:D002386|UMLS:C0524524 hp.json http://purl.obolibrary.org/obo/HP_0010922 HP:0010921 biolink:PhenotypicFeature Coralliform cataract A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form. UMLS:C1392104 hp.json http://purl.obolibrary.org/obo/HP_0010921 HP:0009921 biolink:PhenotypicFeature Duane anomaly A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction SNOMEDCT_US:60318001|UMLS:C4072873|MSH:D004370|UMLS:C0013261|UMLS:C1846464 hp.json Globe retraction and deviation on adduction|Limited eye motility from Duane anomaly|Limited eye movement from Duane anomaly http://purl.obolibrary.org/obo/HP_0009921 hposlim_core HP:0009924 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the nose Underdevelopment or absence of the nose or parts thereof. SNOMEDCT_US:204519007|UMLS:C0685684|SNOMEDCT_US:93278002|UMLS:C4024159|UMLS:C4280392 hp.json Decreased nasal size|Hypoplasia of the nose|Decreased size of nose|Hypotrophic nose http://purl.obolibrary.org/obo/HP_0009924 HP:0010920 biolink:PhenotypicFeature Zonular cataract Zonular cataracts are defined to be cataracts that affect specific regions of the lens. UMLS:C1861821|MSH:C535342 hp.json http://purl.obolibrary.org/obo/HP_0010920 GO:0035107 biolink:BiologicalProcess appendage morphogenesis The process in which the anatomical structures of appendages are generated and organized. An appendage is an organ or part that is attached to the trunk of an organism, such as a limb or a branch. hp.json http://purl.obolibrary.org/obo/GO_0035107 OBO:uberon/core#indirectly_supplies biolink:NamedThing indirectly_supplies a indirectly_supplies s iff a has a branch and the branch supplies or indirectly supplies s. hp.json http://purl.obolibrary.org/obo/uberon/core#indirectly_supplies HP:0009920 biolink:PhenotypicFeature Nevus of Ota A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera. UMLS:C0027961|SNOMEDCT_US:414929001|SNOMEDCT_US:254817005|MSH:D009507 hp.json Oculodermal melanocytosis|Naevus fuscoceruleus ophthalmomaxillaris|Congenital melanosis bulbi|Nevus fuscoceruleus ophthalmomaxillaris http://purl.obolibrary.org/obo/HP_0009920 HP:0010929 biolink:PhenotypicFeature Abnormal blood cation concentration An abnormality of cation homeostasis. UMLS:C4023646 hp.json Abnormality of cation homeostasis http://purl.obolibrary.org/obo/HP_0010929 HP:0010928 biolink:PhenotypicFeature obsolete Increased urinary orotic acid concentration hp.json http://purl.obolibrary.org/obo/HP_0010928 HP:0010927 biolink:PhenotypicFeature Abnormal blood inorganic cation concentration An abnormality of divalent inorganic cation homeostasis. UMLS:C4023648 hp.json Abnormality of divalent inorganic cation homeostasis http://purl.obolibrary.org/obo/HP_0010927 GO:0098773 biolink:BiologicalProcess skin epidermis development The process whose specific outcome is the progression of the skin epidermis over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0098773 GO:0098771 biolink:BiologicalProcess inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0098771 GO:0060142 biolink:BiologicalProcess regulation of syncytium formation by plasma membrane fusion Any process that modulates the frequency, rate or extent of the formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells. hp.json http://purl.obolibrary.org/obo/GO_0060142 GO:0060143 biolink:BiologicalProcess positive regulation of syncytium formation by plasma membrane fusion Any process that increases the frequency, rate or extent of the formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells. hp.json http://purl.obolibrary.org/obo/GO_0060143 HP:0009937 biolink:PhenotypicFeature Facial hirsutism Excess facial hair. UMLS:C2128203|UMLS:C1850041 hp.json Excessive face hair http://purl.obolibrary.org/obo/HP_0009937 HP:0010915 biolink:PhenotypicFeature Abnormal circulating pyruvate family amino acid concentration An abnormality of a pyruvate family amino acid metabolic process. UMLS:C4023655 hp.json Abnormality of pyruvate family amino acid metabolism http://purl.obolibrary.org/obo/HP_0010915 HP:0009936 biolink:PhenotypicFeature Narrow nasal septum Abnormally narrow nasal septum. UMLS:C4024155 hp.json Thin septum of nose|Narrow septum of nose|Thin nasal septum|Decreased width of nasal septum|Narrow nasal septum http://purl.obolibrary.org/obo/HP_0009936 hposlim_core HP:0010914 biolink:PhenotypicFeature Abnormal circulating valine concentration Any deviation from the normal circulation of valine in the blood circulation. UMLS:C4023656 hp.json Abnormality of valine metabolism http://purl.obolibrary.org/obo/HP_0010914 HP:0009939 biolink:PhenotypicFeature Mandibular aplasia Absence of the mandible. UMLS:C0685776|UMLS:C4021371|UMLS:C0685775|SNOMEDCT_US:91922000|SNOMEDCT_US:91896009 hp.json Absence of lower jaw|Aplasia of the lower jaw bone|Absence of lower jaw bone|Failure of development of lower jaw|Absence of lower jaw bones|Failure of development of mandible|Agenesis of the mandible|Absent mandible|Agnathia|Absence of mandible|Missing lower jaw http://purl.obolibrary.org/obo/HP_0009939 HP:0010913 biolink:PhenotypicFeature Hyperisoleucinemia An increased concentration of isoleucine in the blood. UMLS:C4023657 hp.json High blood isoleucine concentration http://purl.obolibrary.org/obo/HP_0010913 HP:0010912 biolink:PhenotypicFeature Abnormal circulating isoleucine concentration Any deviation from the normal concentration of isoleucine in the blood circulation. UMLS:C4023658 hp.json http://purl.obolibrary.org/obo/HP_0010912 HP:0009938 biolink:PhenotypicFeature Sunken cheeks Lack or loss of the soft tissues between the zygomata and mandible. UMLS:C4024154 hp.json Sunken cheeks|Hollow cheeks|Depressed cheeks http://purl.obolibrary.org/obo/HP_0009938 hposlim_core HP:0010911 biolink:PhenotypicFeature Hyperleucinemia An increased concentration of leucine in the blood. SNOMEDCT_US:24013007|UMLS:C0268576 hp.json High blood leucine concentration http://purl.obolibrary.org/obo/HP_0010911 HP:0009933 biolink:PhenotypicFeature Narrow naris Slender, slit-like aperture of the nostril. UMLS:C0426436|UMLS:C1849366|SNOMEDCT_US:249336003|SNOMEDCT_US:249339005|UMLS:C4280390|UMLS:C0426439 hp.json Slit-like nostrils|Naris, narrow|Thin nares|Naris, slit-like|Narrow nares|Small nostrils|Thin nostrils|Narrow nostrils|Collapsed nostrils http://purl.obolibrary.org/obo/HP_0009933 hposlim_core HP:0009932 biolink:PhenotypicFeature Single naris The presence of only a single nostril. UMLS:C0685682|SNOMEDCT_US:95266003 hp.json Single nare|Single nostril|One nostril|Mono nostril http://purl.obolibrary.org/obo/HP_0009932 hposlim_core HP:0010910 biolink:PhenotypicFeature Hypervalinemia An increased concentration of valine in the blood. SNOMEDCT_US:47719001|MSH:C536524|UMLS:C0268573 hp.json High blood valine concentration http://purl.obolibrary.org/obo/HP_0010910 HP:0009935 biolink:PhenotypicFeature Aplasia/Hypoplasia of the nasal septum Absence or underdevelopment of the nasal septum. UMLS:C4024156 hp.json Underdevelopment of nasal septum|Ageneis of nasal septum|Failure of development of nasal septum http://purl.obolibrary.org/obo/HP_0009935 HP:0009934 biolink:PhenotypicFeature Supernumerary naris The presence of more than two nostrils. UMLS:C4021372 hp.json Extra nostril|Accessory nares|Supernumerary nares|Supernumerary nostrils|Accessory nostril http://purl.obolibrary.org/obo/HP_0009934 hposlim_core HP:0009931 biolink:PhenotypicFeature Enlarged naris Increased aperture of the nostril. SNOMEDCT_US:399353008|UMLS:C0426440 hp.json Increased diameter of nostril|Enlarged nares|Increased diameter of nares|Large nares|Wide nares|Naris, broad|Dilated nostril|Dilated nares|Naris, enlarged|Wide nostril|Enlarged nostril|Broad nostril|Increased width of nares http://purl.obolibrary.org/obo/HP_0009931 hposlim_core HP:0009930 biolink:PhenotypicFeature Asymmetry of the nares Asymmetry or size difference between the left and right nostril. UMLS:C4024157 hp.json Unequal nostril shape|Uneven nostril size|Uneven nostril shape|Asymmetry of nostrils|Crooked nostrils|Unequal nostril size http://purl.obolibrary.org/obo/HP_0009930 hposlim_core HP:0010919 biolink:PhenotypicFeature Abnormal circulating homocysteine concentration An abnormality of a homocysteine metabolic process. UMLS:C4023651 hp.json http://purl.obolibrary.org/obo/HP_0010919 HP:0010918 biolink:PhenotypicFeature Abnormal circulating cysteine concentration An abnormality of a cysteine metabolic process. UMLS:C4023652 hp.json http://purl.obolibrary.org/obo/HP_0010918 HP:0010917 biolink:PhenotypicFeature Abnormal circulating tyrosine concentration Any deviation from the normal concentration of tyrosine in the blood circulation. UMLS:C4023653 hp.json http://purl.obolibrary.org/obo/HP_0010917 HP:0010916 biolink:PhenotypicFeature Abnormal circulating alanine concentration An abnormality of an alanine metabolic process. UMLS:C4023654 hp.json Abnormality of alanine metabolism http://purl.obolibrary.org/obo/HP_0010916 GO:0060170 biolink:CellularComponent ciliary membrane The portion of the plasma membrane surrounding a cilium. hp.json flagellar membrane|cilium membrane|flagellum membrane|cilial membrane http://purl.obolibrary.org/obo/GO_0060170 GO:1902358 biolink:BiologicalProcess sulfate transmembrane transport The directed movement of sulfate across a membrane. hp.json http://purl.obolibrary.org/obo/GO_1902358 HP:0009908 biolink:PhenotypicFeature Anterior creases of earlobe Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. UMLS:C1851897 hp.json Transverse earlobe creases|Earlobe crease http://purl.obolibrary.org/obo/HP_0009908 hposlim_core GO:0060173 biolink:BiologicalProcess limb development The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin. Wikipedia:Limb_development hp.json paired limb/fin development|limb bud development http://purl.obolibrary.org/obo/GO_0060173 HP:0009907 biolink:PhenotypicFeature Attached earlobe Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. UMLS:C4021375 hp.json Attached earlobe|Adherent earlobe http://purl.obolibrary.org/obo/HP_0009907 hposlim_core HP:0009909 biolink:PhenotypicFeature Uplifted earlobe An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. UMLS:C1856117 hp.json Uplifted earlobes|Upturned earlobes|Upturned earlobe|Uplifted earlobe|Fleshy upturned lobules|Lobe, uplifted http://purl.obolibrary.org/obo/HP_0009909 hposlim_core HP:0010904 biolink:PhenotypicFeature Abnormal circulating histidine concentration An abnormality of a histidine metabolic process. UMLS:C4023662 hp.json Abnormality of histidine metabolism http://purl.obolibrary.org/obo/HP_0010904 GO:1902362 biolink:BiologicalProcess melanocyte apoptotic process Any apoptotic process in a melanocyte, the main structural component of the epidermis. hp.json melanophore apoptotic process|melanophore apoptosis|melanocyte apoptosis http://purl.obolibrary.org/obo/GO_1902362 HP:0009904 biolink:PhenotypicFeature Prominent ear helix Abnormally prominent ear helix. UMLS:C4024165|UMLS:C4020776 hp.json Large helix http://purl.obolibrary.org/obo/HP_0009904 HP:0009903 biolink:PhenotypicFeature Conjunctival nodule Presence of nodules in the conjunctiva of the eye. SNOMEDCT_US:428477002|UMLS:C1996949 hp.json http://purl.obolibrary.org/obo/HP_0009903 hposlim_core HP:0010903 biolink:PhenotypicFeature Abnormal circulating glutamine concentration Any deviation from the normal concentration of glutamine in the blood circulation. UMLS:C4023663 hp.json http://purl.obolibrary.org/obo/HP_0010903 HP:0009906 biolink:PhenotypicFeature Aplasia/Hypoplasia of the earlobes Absence or underdevelopment of the ear lobes. UMLS:C1851792 hp.json Absent/small ear lobes|Absent/underdeveloped ear lobes http://purl.obolibrary.org/obo/HP_0009906 HP:0010902 biolink:PhenotypicFeature Abnormal circulating glutamine family amino acid concentration Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation. UMLS:C4023664 hp.json http://purl.obolibrary.org/obo/HP_0010902 HP:0009905 biolink:PhenotypicFeature Thin ear helix Decreased thickness of the helix of the ear. UMLS:C4024164 hp.json http://purl.obolibrary.org/obo/HP_0009905 hposlim_core HP:0010901 biolink:PhenotypicFeature Abnormal circulating methionine concentration Any deviation from the normal concentration of methionine in the blood circulation. UMLS:C4023665 hp.json Abnormality of methionine metabolism http://purl.obolibrary.org/obo/HP_0010901 HP:0010900 biolink:PhenotypicFeature Abnormal circulating threonine concentration Any deviation from the normal concentration of threonine in the blood circulation. UMLS:C4023666 hp.json Abnormality of threonine metabolism http://purl.obolibrary.org/obo/HP_0010900 HP:0009900 biolink:PhenotypicFeature Unilateral deafness A unilateral absence of sensory perception of sound. MSH:D046088|UMLS:C2607947|SNOMEDCT_US:162342008 hp.json Deafness in one ear|Deafness, unilateral http://purl.obolibrary.org/obo/HP_0009900 HP:0009902 biolink:PhenotypicFeature Cleft helix A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. UMLS:C4021376 hp.json Notched helix|Notching of the ear helix http://purl.obolibrary.org/obo/HP_0009902 hposlim_core HP:0009901 biolink:PhenotypicFeature Crumpled ear Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. UMLS:C4024166 hp.json Crumpled ear http://purl.obolibrary.org/obo/HP_0009901 hposlim_core HP:0010909 biolink:PhenotypicFeature Abnormal circulating arginine concentration Any deviation from the normal concentration of arginine in the blood circulation. UMLS:C4023659 hp.json Abnormality of arginine metabolism http://purl.obolibrary.org/obo/HP_0010909 HP:0010908 biolink:PhenotypicFeature Abnormal circulating lysine concentration Any deviation from the normal concentration of lysine in the blood circulation. UMLS:C4023660 hp.json Abnormality of lysine metabolism http://purl.obolibrary.org/obo/HP_0010908 HP:0010907 biolink:PhenotypicFeature Abnormal circulating proline concentration Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation. UMLS:C4023661 hp.json http://purl.obolibrary.org/obo/HP_0010907 HP:0010906 biolink:PhenotypicFeature Hyperhistidinemia An increased concentration of histidine in the blood. SNOMEDCT_US:124628005|MSH:C538320|SNOMEDCT_US:410058007|UMLS:C0220992 hp.json Histidinemia|High blood histidine level http://purl.obolibrary.org/obo/HP_0010906 HP:0010905 biolink:PhenotypicFeature obsolete Abnormality of histidine metabolism hp.json http://purl.obolibrary.org/obo/HP_0010905 GO:0098751 biolink:BiologicalProcess bone cell development The process whose specific outcome is the progression of a bone cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. hp.json http://purl.obolibrary.org/obo/GO_0098751 gocheck_do_not_annotate HP:0009919 biolink:PhenotypicFeature Retinoblastoma A tumor of the eye originating from cells of the retina. SNOMEDCT_US:127002001|UMLS:C0035335|UMLS:C0524801|MSH:D012175|SNOMEDCT_US:370967009|NCIT:C7541|SNOMEDCT_US:19906005|MSH:D019572 hp.json Retina tumour|Retina tumor http://purl.obolibrary.org/obo/HP_0009919 HP:0009918 biolink:PhenotypicFeature Ectopia pupillae A malposition of the pupil owing to a developmental defect of the iris. SNOMEDCT_US:392461003|SNOMEDCT_US:193523008|UMLS:C1271219|MSH:C536185 hp.json Corectopia|Displaced pupil http://purl.obolibrary.org/obo/HP_0009918 hposlim_core HP:0009915 biolink:PhenotypicFeature Corneal asymmetry The presence of a size difference between the left and right cornea. UMLS:C4021373 hp.json Asymmetry of the corneas http://purl.obolibrary.org/obo/HP_0009915 hposlim_core HP:0009914 biolink:PhenotypicFeature Cyclopia Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. UMLS:C0266667|MSH:C562573|SNOMEDCT_US:205798005 hp.json Single central eye|Cyclops eye http://purl.obolibrary.org/obo/HP_0009914 hposlim_core HP:0009917 biolink:PhenotypicFeature Persistent pupillary membrane The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. UMLS:C0344541|SNOMEDCT_US:95500008 hp.json http://purl.obolibrary.org/obo/HP_0009917 HP:0009916 biolink:PhenotypicFeature Anisocoria Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. UMLS:C0003079|SNOMEDCT_US:13045009|MSH:D015875 hp.json Asymmetric pupil sizes|Unequal pupil dilatation|Unequal pupil size|Asymmetry of the pupils http://purl.obolibrary.org/obo/HP_0009916 hposlim_core HP:0009911 biolink:PhenotypicFeature Abnormal temporal bone morphology Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. UMLS:C4024163 hp.json Abnormality of the temporal bone http://purl.obolibrary.org/obo/HP_0009911 hposlim_core HP:0009910 biolink:PhenotypicFeature Aplasia of the middle ear ossicles Absence of the middle ear ossicles, malleus, incus, and stapes. UMLS:C4021374 hp.json Absent middle ear bones|Absent middle ear ossicles http://purl.obolibrary.org/obo/HP_0009910 HP:0009913 biolink:PhenotypicFeature Aplasia/Hypoplasia of the tragus Aplasia or developmental hypoplasia of the tragus. UMLS:C4024161 hp.json Absent/small tragus|Absent/underdeveloped tragus http://purl.obolibrary.org/obo/HP_0009913 HP:0009912 biolink:PhenotypicFeature Abnormal tragus morphology An abnormality of the tragus. UMLS:C4024162 hp.json Abnormality of the tragus http://purl.obolibrary.org/obo/HP_0009912 GO:0050709 biolink:BiologicalProcess negative regulation of protein secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell. hp.json down-regulation of protein secretion|down regulation of protein secretion|inhibition of protein secretion|downregulation of protein secretion http://purl.obolibrary.org/obo/GO_0050709 GO:0050708 biolink:BiologicalProcess regulation of protein secretion Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell. hp.json http://purl.obolibrary.org/obo/GO_0050708 CL:0002264 biolink:Cell type A cell of stomach A type of enteroendocrine cell found in the stomach that secretes glucagon. FMA:83411 hp.json http://purl.obolibrary.org/obo/CL_0002264 CHEBI:62488 biolink:ChemicalSubstance signalling molecule A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell. hp.json signal molecule|signaling molecule|signalling molecules|signaling molecules|signal molecules http://purl.obolibrary.org/obo/CHEBI_62488 3_STAR CL:0002261 biolink:Cell endothelial cell of viscerocranial mucosa An endothelial cell found in the mucosa associated with the facial skeleton. FMA:70627 hp.json http://purl.obolibrary.org/obo/CL_0002261 CL:0002260 biolink:Cell epithelial cell of parathyroid gland An epithelial cell of the parathyroid gland. FMA:70547 hp.json http://purl.obolibrary.org/obo/CL_0002260 CL:0002262 biolink:Cell endothelial cell of sinusoid An endothelial cell that lines any of the venous cavities through which blood passes in various glands and organs such as the spleen and liver. FMA:63134 hp.json http://purl.obolibrary.org/obo/CL_0002262 CHEBI:25500 biolink:ChemicalSubstance neopterins hp.json http://purl.obolibrary.org/obo/CHEBI_25500 3_STAR GO:0050714 biolink:BiologicalProcess positive regulation of protein secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. hp.json upregulation of protein secretion|up-regulation of protein secretion|up regulation of protein secretion|activation of protein secretion|stimulation of protein secretion http://purl.obolibrary.org/obo/GO_0050714 CHEBI:62499 biolink:ChemicalSubstance methyl-branched fatty acid Any branched-chain fatty acid containing methyl branches only. PMID:17030019|PMID:19933331|PMID:19747846 hp.json methyl-branched fatty acids http://purl.obolibrary.org/obo/CHEBI_62499 3_STAR CHEBI:25508 biolink:ChemicalSubstance neuraminic acids hp.json http://purl.obolibrary.org/obo/CHEBI_25508 3_STAR CHEBI:25506 biolink:ChemicalSubstance neuraminates hp.json http://purl.obolibrary.org/obo/CHEBI_25506 3_STAR CL:0002274 biolink:Cell histamine secreting cell A cell type that secretes histamine. hp.json http://purl.obolibrary.org/obo/CL_0002274 GO:0050727 biolink:BiologicalProcess regulation of inflammatory response Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. hp.json http://purl.obolibrary.org/obo/GO_0050727 GO:0050728 biolink:BiologicalProcess negative regulation of inflammatory response Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. hp.json anti-inflammatory response|down-regulation of inflammatory response|down regulation of inflammatory response|downregulation of inflammatory response|inhibition of inflammatory response http://purl.obolibrary.org/obo/GO_0050728 GO:0050729 biolink:BiologicalProcess positive regulation of inflammatory response Any process that activates or increases the frequency, rate or extent of the inflammatory response. hp.json up regulation of inflammatory response|activation of inflammatory response|stimulation of inflammatory response|upregulation of inflammatory response|up-regulation of inflammatory response http://purl.obolibrary.org/obo/GO_0050729 CL:0002242 biolink:Cell nucleate cell A cell containing at least one nucleus. FMA:67513 hp.json http://purl.obolibrary.org/obo/CL_0002242 CL:0002246 biolink:Cell peripheral blood stem cell A hematopoeitic stem cell found in the blood. Normally found in very limited numbers in the peripheral circulation (less than 0.1% of all nucleated cells). BTO:0002669|FMA:86711 hp.json PBSC http://purl.obolibrary.org/obo/CL_0002246 CL:0002240 biolink:Cell marrow fibroblast A fibroblast in the bone marrow. FMA:84377 hp.json http://purl.obolibrary.org/obo/CL_0002240 CL:0002253 biolink:Cell epithelial cell of large intestine An epithelial cell of the large intestine. FMA:256157|BTO:0004297 hp.json epithelial cell of colon http://purl.obolibrary.org/obo/CL_0002253 CL:0002255 biolink:Cell stromal cell of endometrium Connective tissue cells of the endometrium, these cells are fibroblastic in appearance. During decidualization they tranform into decidual (stromal) cells, swellling up and adopt an epithelial cell-like appearance due to the accumulation of glycogen and lipid droplets. CALOHA:TS-1266|FMA:86490 hp.json endometrial stromal cell http://purl.obolibrary.org/obo/CL_0002255 CL:0002258 biolink:Cell thyroid follicular cell A cell type that varies from squamous to columnar, depending on their activity with microvillus directed luminally. This cell produces and secretes thyroid hormones. FMA:68782|CALOHA:TS-1285|BTO:0003736 hp.json principal cell of thyroid gland|follicular cell of thyroid gland|thyroid gland follicular cell http://purl.obolibrary.org/obo/CL_0002258 CL:0002257 biolink:Cell epithelial cell of thyroid gland An epithelial cell of thyroid gland. FMA:256167 hp.json http://purl.obolibrary.org/obo/CL_0002257 CL:0002252 biolink:Cell epithelial cell of esophagus An epithelial cell of the esophagus. FMA:63071 hp.json http://purl.obolibrary.org/obo/CL_0002252 CL:0002251 biolink:Cell epithelial cell of alimentary canal An epithelial cell of the musculomembranous digestive tube extending from the mouth to the anus. hp.json http://purl.obolibrary.org/obo/CL_0002251 HP:0032270 biolink:PhenotypicFeature Optic nerve tram-track sign A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common. hp.json http://purl.obolibrary.org/obo/HP_0032270 HP:0032271 biolink:PhenotypicFeature Extrapulmonary tuberculosis A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. hp.json Extrapulmonary TB http://purl.obolibrary.org/obo/HP_0032271 HP:0032272 biolink:PhenotypicFeature Elevated urinary N-acetylaspartic acid level Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. hp.json http://purl.obolibrary.org/obo/HP_0032272 GO:0035190 biolink:BiologicalProcess syncytial nuclear migration The directed movement of nuclei within the syncytial embryo of insects. These precise temporal and spatial patterns of nuclear movement are coordinated with mitotic divisons and are required during blastoderm formation to reposition dividing nuclei from the interior of the syncytial embryo to the cortex. hp.json http://purl.obolibrary.org/obo/GO_0035190 HP:0032277 biolink:PhenotypicFeature Lozenge-shaped umbilicus hp.json http://purl.obolibrary.org/obo/HP_0032277 HP:0032278 biolink:PhenotypicFeature 2-hydroxyglutarate aciduria An increase in the level of 2-hydroxyglutaric acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0032278 HP:0032273 biolink:PhenotypicFeature Increased circulating N-Acetylaspartic acid concentration An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation. hp.json Increased circulating NAA level|Increased circulating N-acetyl-L-aspartic acid level|Increased circulating N-acetyl aspartic acid level|Increased circulating N-acetyl aspartate level|Increased circulating N-acetylaspartate level http://purl.obolibrary.org/obo/HP_0032273 HP:0032274 biolink:PhenotypicFeature Increased CSF N-acetylaspartic acid concentration An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). hp.json Increased N-acetylaspartate levels in CSF|Increased N-acetyl-L-aspartic acid levels in CSF|Increased NAA levels in CSF|Increased N-acetyl aspartic acid levels in CSF|Increased N-acetyl aspartate levels in CSF http://purl.obolibrary.org/obo/HP_0032274 CHEBI:86499 biolink:ChemicalSubstance monohydroxyproline A hydroxy-amino acid in which the amino acid specified is proline. A "closed" class. hp.json http://purl.obolibrary.org/obo/CHEBI_86499 3_STAR HP:0032275 biolink:PhenotypicFeature Recurrent shingles Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. hp.json http://purl.obolibrary.org/obo/HP_0032275 HP:0032276 biolink:PhenotypicFeature Prominent subcalcaneal fat pad Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062. hp.json http://purl.obolibrary.org/obo/HP_0032276 CL:0002220 biolink:Cell interstitial cell of pineal gland A cell located between the pinealocytes. FMA:86575 hp.json http://purl.obolibrary.org/obo/CL_0002220 CL:1000497 biolink:Cell kidney cell KUPO:0001010 hp.json http://purl.obolibrary.org/obo/CL_1000497 CL:0002222 biolink:Cell vertebrate lens cell A cell comprising the transparent, biconvex body separating the posterior chamber and vitreous body, and constituting part of the refracting mechanism of the mammalian eye. FMA:70950 hp.json http://purl.obolibrary.org/obo/CL_0002222 CL:0002224 biolink:Cell lens epithelial cell A cell of the cuboidal epithelium that covers the lens. The cells of the lens epithelium regulate most of the homeostatic functions of the lens. As ions, nutrients, and liquid enter the lens from the aqueous humor, Na+/K+ ATPase pumps in the lens epithelial cells pump ions out of the lens to maintain appropriate lens osmolarity and volume, with equatorially positioned lens epithelium cells contributing most to this current. The activity of the Na+/K+ ATPases keeps water and current flowing through the lens from the poles and exiting through the equatorial regions. The cells of the lens epithelium also serve as the progenitors for new lens fibers. It constantly lays down fibers in the embryo, fetus, infant, and adult, and continues to lay down fibers for lifelong growth. FMA:67559 hp.json http://purl.obolibrary.org/obo/CL_0002224 CL:1000493 biolink:Cell mesothelial cell of visceral pleura A mesothelial cell that is part of the visceral pleura. FMA:86739 hp.json http://purl.obolibrary.org/obo/CL_1000493 CL:1000492 biolink:Cell mesothelial cell of parietal pleura A mesothelial cell that is part of the parietal pleura. FMA:86738 hp.json http://purl.obolibrary.org/obo/CL_1000492 CL:1000491 biolink:Cell mesothelial cell of pleura A mesothelial cell that is part of the pleura. FMA:86737 hp.json pleural mesothelial cell http://purl.obolibrary.org/obo/CL_1000491 CL:1000490 biolink:Cell mesothelial cell of peritoneum A mesothelial cell that is part of the peritoneum. FMA:86736 hp.json peritoneal mesothelial cell http://purl.obolibrary.org/obo/CL_1000490 HP:0032281 biolink:PhenotypicFeature Abnormal base excess Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C). hp.json http://purl.obolibrary.org/obo/HP_0032281 HP:0032282 biolink:PhenotypicFeature Contact dermatitis An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis. hp.json http://purl.obolibrary.org/obo/HP_0032282 HP:0032283 biolink:PhenotypicFeature Disseminated nontuberculous mycobacterial infection An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease. hp.json http://purl.obolibrary.org/obo/HP_0032283 HP:0032288 biolink:PhenotypicFeature Polyclonal elevation of circulating IgG An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains. hp.json http://purl.obolibrary.org/obo/HP_0032288 HP:0032289 biolink:PhenotypicFeature Oligoclonal elevation of circulating IgG An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp.json http://purl.obolibrary.org/obo/HP_0032289 HP:0032284 biolink:PhenotypicFeature Ultra-low vision with retained motion projection Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). hp.json http://purl.obolibrary.org/obo/HP_0032284 HP:0032285 biolink:PhenotypicFeature Ultra-low vision with retained light projection Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus. hp.json http://purl.obolibrary.org/obo/HP_0032285 HP:0032286 biolink:PhenotypicFeature Ultra-low vision with retained light perception Ultra-low vision but with retained ability to perceive the difference between light and dark. hp.json http://purl.obolibrary.org/obo/HP_0032286 HP:0032287 biolink:PhenotypicFeature Ultra-low vision with no light perception Ultra-low vision with complete lack of light and form perception. hp.json http://purl.obolibrary.org/obo/HP_0032287 CL:1000488 biolink:Cell cholangiocyte An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. FMA:86481 hp.json epithelial cell of bile duct http://purl.obolibrary.org/obo/CL_1000488 CL:1000487 biolink:Cell smooth muscle cell of prostate A smooth muscle cell that is part of the prostate gland. FMA:84583 hp.json smooth muscle fiber of prostate http://purl.obolibrary.org/obo/CL_1000487 CL:1000482 biolink:Cell myocardial endocrine cell of interventricular septum A myocardial endocrine cell that is part of the interventricular septum. FMA:83390 hp.json http://purl.obolibrary.org/obo/CL_1000482 HP:0032291 biolink:PhenotypicFeature Monoclonal elevation of intact IgG A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain. hp.json http://purl.obolibrary.org/obo/HP_0032291 HP:0032292 biolink:PhenotypicFeature Monoclonal elevation of IgG light chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain. hp.json http://purl.obolibrary.org/obo/HP_0032292 GO:0050764 biolink:BiologicalProcess regulation of phagocytosis Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material. hp.json http://purl.obolibrary.org/obo/GO_0050764 HP:0032293 biolink:PhenotypicFeature Monoclonal elevation of IgG heavy chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain. hp.json http://purl.obolibrary.org/obo/HP_0032293 HP:0032294 biolink:PhenotypicFeature Monoclonal elevation of IgG kappa chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain. hp.json http://purl.obolibrary.org/obo/HP_0032294 GO:0050767 biolink:BiologicalProcess regulation of neurogenesis Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system. hp.json http://purl.obolibrary.org/obo/GO_0050767 GO:1904937 biolink:BiologicalProcess sensory neuron migration The orderly movement of a sensory neuron from one site to another. hp.json http://purl.obolibrary.org/obo/GO_1904937 GO:0050768 biolink:BiologicalProcess negative regulation of neurogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. hp.json downregulation of neurogenesis|down regulation of neurogenesis|inhibition of neurogenesis|down-regulation of neurogenesis http://purl.obolibrary.org/obo/GO_0050768 GO:0050765 biolink:BiologicalProcess negative regulation of phagocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis. hp.json downregulation of phagocytosis|down regulation of phagocytosis|inhibition of phagocytosis|down-regulation of phagocytosis http://purl.obolibrary.org/obo/GO_0050765 GO:1904936 biolink:BiologicalProcess interneuron migration The orderly movement of an interneuron from one site to another. hp.json inter neuron migration|inter-neuron migration http://purl.obolibrary.org/obo/GO_1904936 GO:1904935 biolink:BiologicalProcess positive regulation of cell proliferation in midbrain Any process that activates or increases the frequency, rate or extent of cell proliferation in midbrain. hp.json up regulation of cell proliferation in mesencephalon|positive regulation of cell proliferation in mesencephalon|upregulation of mesencepahalic cell proliferation|upregulation of cell proliferation in midbrain|activation of cell proliferation in mesencephalon|activation of mesencepahalic cell proliferation|upregulation of cell proliferation in mesencephalon|up regulation of cell proliferation in midbrain|up-regulation of mesencepahalic cell proliferation|up-regulation of cell proliferation in midbrain|activation of cell proliferation in midbrain|up regulation of mesencepahalic cell proliferation|up-regulation of cell proliferation in mesencephalon|positive regulation of mesencepahalic cell proliferation http://purl.obolibrary.org/obo/GO_1904935 GO:0050766 biolink:BiologicalProcess positive regulation of phagocytosis Any process that activates or increases the frequency, rate or extent of phagocytosis. hp.json stimulation of phagocytosis|up regulation of phagocytosis|activation of phagocytosis|up-regulation of phagocytosis|upregulation of phagocytosis http://purl.obolibrary.org/obo/GO_0050766 HP:0032290 biolink:PhenotypicFeature Monoclonal elevation of IgG An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp.json http://purl.obolibrary.org/obo/HP_0032290 GO:1904934 biolink:BiologicalProcess negative regulation of cell proliferation in midbrain Any process that stops, prevents or reduces the frequency, rate or extent of cell proliferation in midbrain. hp.json inhibition of cell proliferation in midbrain|down-regulation of mesencepahalic cell proliferation|down-regulation of cell proliferation in midbrain|negative regulation of mesencepahalic cell proliferation|down regulation of mesencepahalic cell proliferation|negative regulation of cell proliferation in mesencephalon|down-regulation of cell proliferation in mesencephalon|downregulation of mesencepahalic cell proliferation|down regulation of cell proliferation in mesencephalon|downregulation of cell proliferation in midbrain|inhibition of cell proliferation in mesencephalon|downregulation of cell proliferation in mesencephalon|inhibition of mesencepahalic cell proliferation|down regulation of cell proliferation in midbrain http://purl.obolibrary.org/obo/GO_1904934 HP:0032299 biolink:PhenotypicFeature Increased circulating IgG2 level An abnormally increased concentration of the IgG2 subtype in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032299 GO:1904933 biolink:BiologicalProcess regulation of cell proliferation in midbrain Any process that modulates the frequency, rate or extent of cell proliferation in midbrain. hp.json regulation of mesencepahalic cell proliferation|regulation of cell proliferation in mesencephalon http://purl.obolibrary.org/obo/GO_1904933 GO:0050769 biolink:BiologicalProcess positive regulation of neurogenesis Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. hp.json up regulation of neurogenesis|stimulation of neurogenesis|up-regulation of neurogenesis|activation of neurogenesis|upregulation of neurogenesis http://purl.obolibrary.org/obo/GO_0050769 CL:0002209 biolink:Cell intermediate epitheliocyte An epithelial cell present in the trachea and bronchi; columnar in shape; generally lack cilia; immature forms of ciliated or secretory cells which have been formed from stem cells. FMA:69060 hp.json undifferentiated columnar cell of tracheobronchial tree http://purl.obolibrary.org/obo/CL_0002209 HP:0032295 biolink:PhenotypicFeature Monoclonal elevation of IgG lambda chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain. hp.json http://purl.obolibrary.org/obo/HP_0032295 HP:0032296 biolink:PhenotypicFeature Increased circulating IgG subclass An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses. hp.json http://purl.obolibrary.org/obo/HP_0032296 HP:0032297 biolink:PhenotypicFeature Increased circulating IgG3 level An abnormally increased concentration of the IgG3 subtype in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032297 HP:0032298 biolink:PhenotypicFeature Increased circulating IgG1 level An abnormally increased concentration of the IgG1 subtype in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032298 CL:0002202 biolink:Cell epithelial cell of tracheobronchial tree An epithelial cell of the tracheobronchial tree. FMA:66816 hp.json http://purl.obolibrary.org/obo/CL_0002202 GO:0050772 biolink:BiologicalProcess positive regulation of axonogenesis Any process that activates or increases the frequency, rate or extent of axonogenesis. hp.json upregulation of axonogenesis|up regulation of axonogenesis|stimulation of axonogenesis|up-regulation of axonogenesis|activation of axonogenesis http://purl.obolibrary.org/obo/GO_0050772 GO:0050778 biolink:BiologicalProcess positive regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. hp.json stimulation of immune response|upregulation of immune response|up-regulation of immune response|up regulation of immune response http://purl.obolibrary.org/obo/GO_0050778 GO:0050776 biolink:BiologicalProcess regulation of immune response Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. hp.json http://purl.obolibrary.org/obo/GO_0050776 GO:0050777 biolink:BiologicalProcess negative regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. hp.json down-regulation of immune response|down regulation of immune response|inhibition of immune response|downregulation of immune response http://purl.obolibrary.org/obo/GO_0050777 GO:1904944 biolink:BiologicalProcess positive regulation of cardiac ventricle formation Any process that activates or increases the frequency, rate or extent of cardiac ventricle formation. hp.json up regulation of cardiac ventricle formation|activation of cardiac ventricle formation|upregulation of cardiac ventricle formation|up-regulation of cardiac ventricle formation http://purl.obolibrary.org/obo/GO_1904944 GO:1904943 biolink:BiologicalProcess negative regulation of cardiac ventricle formation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac ventricle formation. hp.json down-regulation of cardiac ventricle formation|down regulation of cardiac ventricle formation|downregulation of cardiac ventricle formation|inhibition of cardiac ventricle formation http://purl.obolibrary.org/obo/GO_1904943 GO:1904942 biolink:BiologicalProcess regulation of cardiac ventricle formation Any process that modulates the frequency, rate or extent of cardiac ventricle formation. hp.json http://purl.obolibrary.org/obo/GO_1904942 GO:0050770 biolink:BiologicalProcess regulation of axonogenesis Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. hp.json http://purl.obolibrary.org/obo/GO_0050770 GO:0050771 biolink:BiologicalProcess negative regulation of axonogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis. hp.json down regulation of axonogenesis|inhibition of axonogenesis|down-regulation of axonogenesis|downregulation of axonogenesis http://purl.obolibrary.org/obo/GO_0050771 HP:0009690 biolink:PhenotypicFeature Fragmentation of thumb epiphysis Epiphysis of the thumb having multiple bony fragments. UMLS:C4021405 hp.json Fragmentation of the epiphyses of the thumb|Fragmentation of end part of long bone of thumb http://purl.obolibrary.org/obo/HP_0009690 UBERON:0000219 biolink:AnatomicalEntity vertebral foramen of atlas FMA:24293 hp.json vertebral foramen of cervical vertebra 1 http://purl.obolibrary.org/obo/UBERON_0000219 HP:0009692 biolink:PhenotypicFeature Ivory epiphysis of the thumb Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4021403 hp.json Increased bone density of end part of the thumb|Ivory epiphyses of the thumb http://purl.obolibrary.org/obo/HP_0009692 HP:0009691 biolink:PhenotypicFeature Irregular thumb epiphysis Uneven radiographic opacity of the one or more epiphyses of the thumb. UMLS:C4021404 hp.json Irregular epiphyses of the thumb|Irregular end part of thumb long bone http://purl.obolibrary.org/obo/HP_0009691 HP:0007030 biolink:PhenotypicFeature Nonprogressive encephalopathy UMLS:C4024950 hp.json http://purl.obolibrary.org/obo/HP_0007030 HP:0020006 biolink:PhenotypicFeature Ciliary body coloboma A coloboma of the ciliary body. UMLS:C4072884 hp.json http://purl.obolibrary.org/obo/HP_0020006 UBERON:0000218 biolink:AnatomicalEntity vertebral arch of axis A neural arch that is part of a vertebral bone 2. FMA:24053 hp.json vertebral foramen of cervical vertebra 2 http://purl.obolibrary.org/obo/UBERON_0000218 HP:0010687 biolink:PhenotypicFeature Low intestinal alkaline phosphatase An abnormally reduced level of alkaline phosphatase, intestinal type in the blood. UMLS:C4023738 hp.json Low intestinal ALP http://purl.obolibrary.org/obo/HP_0010687 HP:0010686 biolink:PhenotypicFeature Low alkaline phosphatase of hepatic origin An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood. UMLS:C4023739 hp.json Low ALP of hepatic origin http://purl.obolibrary.org/obo/HP_0010686 HP:0010685 biolink:PhenotypicFeature Low alkaline phosphatase of renal origin An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. UMLS:C4023740 hp.json Low ALP of renal origin http://purl.obolibrary.org/obo/HP_0010685 HP:0010684 biolink:PhenotypicFeature Low alkaline phosphatase of bone origin An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood. UMLS:C4023741 hp.json Low ALP of bone origin http://purl.obolibrary.org/obo/HP_0010684 HP:0010683 biolink:PhenotypicFeature Low tissue non-specific alkaline phosphatase An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. UMLS:C4023742 hp.json Low tissue non-specific ALP http://purl.obolibrary.org/obo/HP_0010683 HP:0010682 biolink:PhenotypicFeature Elevated placental alkaline phosphatase An abnormally increased level of alkaline phosphatase, placental type in the blood. UMLS:C4023743 hp.json Elevated placental ALP http://purl.obolibrary.org/obo/HP_0010682 HP:0010681 biolink:PhenotypicFeature Elevated intestinal alkaline phosphatase An abnormally increased level of alkaline phosphatase, intestinal type in the blood. UMLS:C4023744 hp.json Elevated intestinal ALP http://purl.obolibrary.org/obo/HP_0010681 HP:0010680 biolink:PhenotypicFeature Elevated alkaline phosphatase of renal origin An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. UMLS:C4023745 hp.json Elevated ALP of renal origin http://purl.obolibrary.org/obo/HP_0010680 HP:0007029 biolink:PhenotypicFeature Cerebral berry aneurysm A small, sac-like aneurysm (outpouching) of a cerebral blood vessel. UMLS:C2713497|MSH:D000783|SNOMEDCT_US:54002007 hp.json Cerebral saccular aneurysm http://purl.obolibrary.org/obo/HP_0007029 HP:0010689 biolink:PhenotypicFeature Mirror image polydactyly A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes. MSH:C535689|SNOMEDCT_US:715440003|UMLS:C1851100 hp.json Mirror image duplication of digits http://purl.obolibrary.org/obo/HP_0010689 HP:0010688 biolink:PhenotypicFeature Low placental alkaline phosphatase An abnormally reduced level of alkaline phosphatase, placental type in the blood. UMLS:C4023737 hp.json Low placental ALP http://purl.obolibrary.org/obo/HP_0010688 HP:0009687 biolink:PhenotypicFeature Bracket epiphyses of the thumb An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024232 hp.json Bracket shaped end part of the thumb bone http://purl.obolibrary.org/obo/HP_0009687 HP:0007024 biolink:PhenotypicFeature Pseudobulbar paralysis Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. MSH:D020828|SNOMEDCT_US:7379000|UMLS:C0033790 hp.json Pseudobulbar syndrome|Pseudobulbar palsy http://purl.obolibrary.org/obo/HP_0007024 GO:0001936 biolink:BiologicalProcess regulation of endothelial cell proliferation Any process that modulates the frequency, rate, or extent of endothelial cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_0001936 GO:0001937 biolink:BiologicalProcess negative regulation of endothelial cell proliferation Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation. hp.json downregulation of endothelial cell proliferation|down regulation of endothelial cell proliferation|inhibition of endothelial cell proliferation|down-regulation of endothelial cell proliferation http://purl.obolibrary.org/obo/GO_0001937 HP:0009686 biolink:PhenotypicFeature Absent epiphyses of the thumb Absence of one or more epiphyses of the thumb. UMLS:C4024233 hp.json http://purl.obolibrary.org/obo/HP_0009686 GO:0001938 biolink:BiologicalProcess positive regulation of endothelial cell proliferation Any process that activates or increases the rate or extent of endothelial cell proliferation. hp.json up regulation of endothelial cell proliferation|stimulation of endothelial cell proliferation|up-regulation of endothelial cell proliferation|activation of endothelial cell proliferation|upregulation of endothelial cell proliferation http://purl.obolibrary.org/obo/GO_0001938 HP:0009689 biolink:PhenotypicFeature Enlarged thumb epiphysis Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms. UMLS:C4021406 hp.json Enlarged epiphyses of the thumb|Enlarged end part of thumb long bone http://purl.obolibrary.org/obo/HP_0009689 HP:0009688 biolink:PhenotypicFeature Cone-shaped epiphysis of the thumb A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. UMLS:C4021407 hp.json Cone-shaped end part of thumb long bone|Cone-shaped epiphyses of the thumb|Cone-shaped thumb epiphyses http://purl.obolibrary.org/obo/HP_0009688 HP:0007027 biolink:PhenotypicFeature Poorly formed metencephalon A morphological abnormality of the metencephalon. UMLS:C4024951 hp.json http://purl.obolibrary.org/obo/HP_0007027 HP:0009683 biolink:PhenotypicFeature Small epiphysis of the distal phalanx of the thumb Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. UMLS:C4024236 hp.json Small end part of thumb outermost bone http://purl.obolibrary.org/obo/HP_0009683 HP:0007020 biolink:PhenotypicFeature Progressive spastic paraplegia UMLS:C1855483 hp.json http://purl.obolibrary.org/obo/HP_0007020 HP:0009682 biolink:PhenotypicFeature Pseudoepiphysis of the distal phalanx of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb. UMLS:C4024237 hp.json Pseudoepiphysis of the outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009682 HP:0007021 biolink:PhenotypicFeature Pain insensitivity Inability to perceive painful stimuli. UMLS:C0344307|SNOMEDCT_US:38433004 hp.json Absence of pain sensation http://purl.obolibrary.org/obo/HP_0007021 UBERON:0000220 biolink:AnatomicalEntity atlanto-occipital joint The Atlanto-occipital joint (articulation between the atlas and the occipital bone) consists of a pair of condyloid joints. The atlanto-occipital joint is a synovial joint. The ligaments connecting the bones are: Two Articular capsules; Posterior atlantoöccipital membrane; Anterior atlantoöccipital membrane; Lateral atlantoöccipital. FMA:24939|NCIT:C32158|ncithesaurus:Atlanto-occipital_Joint-Atlanto|MESH:D001269|UMLS:C0004169 hp.json occipito-atlantal joint|articulatio atlanto-occipitalis|craniovertebral joint|articulatio atlantooccipitalis|atlanto occipital joint|atlantooccipital joint|occipito atlantal joint http://purl.obolibrary.org/obo/UBERON_0000220 HP:0009685 biolink:PhenotypicFeature Triangular epiphysis of the distal phalanx of the thumb A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. UMLS:C4024234 hp.json Triangular epiphysis of the outermost bone of the thumb|Triangular end part of thumb outermost bone http://purl.obolibrary.org/obo/HP_0009685 HP:0009684 biolink:PhenotypicFeature Stippling of the epiphysis of the distal phalanx of the thumb The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. UMLS:C4024235 hp.json Speckled calcifications in the end part of the outermost thumb bone http://purl.obolibrary.org/obo/HP_0009684 GO:0001935 biolink:BiologicalProcess endothelial cell proliferation The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium. hp.json http://purl.obolibrary.org/obo/GO_0001935 HP:0007023 biolink:PhenotypicFeature Antenatal intracerebral hemorrhage Cerebral hemorrhage that occurs before birth. UMLS:C1837247 hp.json Antenatal intracerebral haemorrhage http://purl.obolibrary.org/obo/HP_0007023 CHEBI:50402 biolink:ChemicalSubstance androstanoid Any steroid based on an androstane skeleton and its derivatives. hp.json androstanoids http://purl.obolibrary.org/obo/CHEBI_50402 3_STAR UBERON:0000209 biolink:AnatomicalEntity tetrapod frontal bone The bone forming the forehead and roof of the eye orbit. UMLS:C0016732|VHOG:0001324|GAID:226|NCIT:C32635|AAO:0000206|EMAPA:19016|MA:0001466|FMA:52734|VSAO:0000208|MESH:D005624 hp.json frontal bone|frontal|os frontal|os frontale|frontal bone http://purl.obolibrary.org/obo/UBERON_0000209 pheno_slim CHEBI:50401 biolink:ChemicalSubstance cholestanoid Any steroid based on a cholestane skeleton and its derivatives. hp.json cholestanoids http://purl.obolibrary.org/obo/CHEBI_50401 3_STAR HP:0007041 biolink:PhenotypicFeature Chronic lymphocytic meningitis Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). SNOMEDCT_US:230154004|UMLS:C0393441 hp.json http://purl.obolibrary.org/obo/HP_0007041 UBERON:0000204 biolink:AnatomicalEntity ventral part of telencephalon Ventral part (base region) of the telencephalon. EFO:0003522|BTO:0003401|ZFA:0000304|TAO:0000304|DMBA:15751 hp.json subpallium|area ventralis telencephali|ventral telencephalon|subpallium http://purl.obolibrary.org/obo/UBERON_0000204 efo_slim|developmental_classification CHEBI:50404 biolink:ChemicalSubstance lipoprotein cholesterol Cholesterol esters and free cholesterol which are contained in or bound to lipoproteins. hp.json http://purl.obolibrary.org/obo/CHEBI_50404 3_STAR HP:0010676 biolink:PhenotypicFeature Mechanical ileus UMLS:C0400843|SNOMEDCT_US:46420000 hp.json http://purl.obolibrary.org/obo/HP_0010676 UBERON:0014852 biolink:AnatomicalEntity chorda tendinea of right ventricle Chorda tendinea which is attached to the leaflet of tricuspid valve and is continuous with the endocardium of papillary muscle of right ventricle. FMA:9300 hp.json http://purl.obolibrary.org/obo/UBERON_0014852 pheno_slim HP:0032002 biolink:PhenotypicFeature Orange urine An abnormal orange color of urine. hp.json http://purl.obolibrary.org/obo/HP_0032002 HP:0010675 biolink:PhenotypicFeature Abnormal foot bone ossification An abnormality of the formation and mineralization of any bone of the skeleton of foot. UMLS:C4021241|UMLS:C4020768|UMLS:C4280367 hp.json Abnormal maturation of foot bones|Abnormality of the mineralisation and ossification of bones of the feet|Abnormal ossification involving bones of the feet http://purl.obolibrary.org/obo/HP_0010675 HP:0032003 biolink:PhenotypicFeature Green urine An abnormal green color of urine. hp.json http://purl.obolibrary.org/obo/HP_0032003 HP:0010674 biolink:PhenotypicFeature Abnormality of the curvature of the vertebral column The presence of an abnormal curvature of the vertebral column. UMLS:C4023747 hp.json Abnormal curve of the spine|Curvature of spine|Curved spine|Abnormal curving of the spine|Abnormal curve of the backbone http://purl.obolibrary.org/obo/HP_0010674 HP:0032004 biolink:PhenotypicFeature Pruritus vulvae A sensation of itching in the vulvar region. hp.json http://purl.obolibrary.org/obo/HP_0032004 HP:0032005 biolink:PhenotypicFeature Hemidystonia Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg. hp.json http://purl.obolibrary.org/obo/HP_0032005 HP:0010672 biolink:PhenotypicFeature Abnormality of the third metatarsal bone An abnormality of the third metatarsal bone. UMLS:C4023748 hp.json Abnormality of the 3rd long bone of foot http://purl.obolibrary.org/obo/HP_0010672 HP:0032000 biolink:PhenotypicFeature Pleural rub An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles hp.json http://purl.obolibrary.org/obo/HP_0032000 HP:0032001 biolink:PhenotypicFeature Pink urine An abnormal pink color of urine. hp.json http://purl.obolibrary.org/obo/HP_0032001 UBERON:0014851 biolink:AnatomicalEntity chorda tendinea of left ventricle Chorda tendinea which is attached to the leaflet of mitral valve and is continuous with the endocardium of papillary muscle of left ventricle. FMA:9349 hp.json http://purl.obolibrary.org/obo/UBERON_0014851 pheno_slim CHEBI:37445 biolink:ChemicalSubstance folic acids A group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid units. hp.json folate|folates|folates http://purl.obolibrary.org/obo/CHEBI_37445 3_STAR HP:0032006 biolink:PhenotypicFeature Lip tremor An unintentional, oscillating to-and-fro muscle movement affecting the lip. hp.json http://purl.obolibrary.org/obo/HP_0032006 HP:0007039 biolink:PhenotypicFeature Symmetric lesions of the basal ganglia UMLS:C4024947 hp.json http://purl.obolibrary.org/obo/HP_0007039 HP:0032007 biolink:PhenotypicFeature Maceration A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue. hp.json Maceration of the skin|Skin maceration http://purl.obolibrary.org/obo/HP_0032007 HP:0010679 biolink:PhenotypicFeature Elevated tissue non-specific alkaline phosphatase An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. UMLS:C4021240 hp.json Elevated tissue non-specific ALP|Elevated alkaline phosphatase, liver/bone/kidney http://purl.obolibrary.org/obo/HP_0010679 UBERON:0014847 biolink:AnatomicalEntity vastus intermedius The Vastus intermedius (Cruraeus) arises from the front and lateral surfaces of the body of the femur in its upper two-thirds, sitting under Rectus Femoris and from the lower part of the lateral intermuscular septum. Its fibers end in a superficial aponeurosis, which forms the deep part of the Quadriceps femoris tendon. The Vastus medialis and Vastus intermedius appear to be inseparably united, but when the Rectus femoris has been reflected a narrow interval will be observed extending upward from the medial border of the patella between the two muscles, and the separation may be continued as far as the lower part of the intertrochanteric line, where, however, the two muscles are frequently continuous. FMA:22433|BTO:0002542|EMAPA:36243 hp.json intermediate vastus muscle|vastus intermedialis|intermediate great muscle|vastus intermedius|crureus|cruraeus|musculus vastus intermedius http://purl.obolibrary.org/obo/UBERON_0014847 HP:0032008 biolink:PhenotypicFeature Pulmonary fat embolism The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung. hp.json Fat embolism http://purl.obolibrary.org/obo/HP_0032008 HP:0010678 biolink:PhenotypicFeature Enuresis diurna Enuresis occurring during waking hours of the day. UMLS:C4023746 hp.json http://purl.obolibrary.org/obo/HP_0010678 UBERON:0014848 biolink:AnatomicalEntity tendon of quadriceps femoris FMA:46900 hp.json common quadriceps femoris tendon|common tendon of quadriceps femoris muscle complex|common quadriceps tendon|quadriceps femoris tendon|common tendon of quadriceps femoris|quadriceps tendon http://purl.obolibrary.org/obo/UBERON_0014848 human_reference_atlas HP:0032009 biolink:PhenotypicFeature Infantile constant exotropia Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities. hp.json Infantile (constant) exotropia http://purl.obolibrary.org/obo/HP_0032009 HP:0010677 biolink:PhenotypicFeature Enuresis nocturna Enuresis occurring during sleeping hours. MSH:D053206|UMLS:C0270327|SNOMEDCT_US:8009008 hp.json Nocturnal enuresis http://purl.obolibrary.org/obo/HP_0010677 UBERON:0000211 biolink:AnatomicalEntity ligament Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ. OpenCyc:Mx4rvVjqpZwpEbGdrcN5Y29ycA|FMA:21496|UMLS:C0023685|MESH:D008022|CALOHA:TS-2145|FMA:30319|ZFA:0001675|MA:0000113|VHOG:0001272|EFO:0001966|EMAPA:35493|TAO:0001682|NCIT:C13046|XAO:0004031|galen:Ligament hp.json ligament organ http://purl.obolibrary.org/obo/UBERON_0000211 uberon_slim|vertebrate_core|pheno_slim|efo_slim HP:0007035 biolink:PhenotypicFeature Anterior encephalocele UMLS:C4024948 hp.json http://purl.obolibrary.org/obo/HP_0007035 HP:0009697 biolink:PhenotypicFeature Contracture of the distal interphalangeal joint of the fingers Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. UMLS:C4024230 hp.json http://purl.obolibrary.org/obo/HP_0009697 HP:0007036 biolink:PhenotypicFeature Hypoplasia of olfactory tract UMLS:C1856655 hp.json Underdeveloped olfactory tract http://purl.obolibrary.org/obo/HP_0007036 HP:0009699 biolink:PhenotypicFeature Osteolytic defects of the hand bones UMLS:C4021400 hp.json Lytic defects of hand bones http://purl.obolibrary.org/obo/HP_0009699 HP:0009694 biolink:PhenotypicFeature Small thumb epiphysis Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms. UMLS:C4021402 hp.json Small end part of thumb long bone|Small epiphyses of the thumb http://purl.obolibrary.org/obo/HP_0009694 HP:0009693 biolink:PhenotypicFeature Pseudoepiphysis of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb. UMLS:C3552484 hp.json Pseudoepiphyses of the thumb http://purl.obolibrary.org/obo/HP_0009693 GO:0001944 biolink:BiologicalProcess vasculature development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. hp.json vascular system development http://purl.obolibrary.org/obo/GO_0001944 HP:0007033 biolink:PhenotypicFeature Cerebellar dysplasia Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. UMLS:C3278322 hp.json http://purl.obolibrary.org/obo/HP_0007033 HP:0009696 biolink:PhenotypicFeature Triangular epiphyses of the thumb UMLS:C4024231 hp.json Triangular end part of the thumb bone http://purl.obolibrary.org/obo/HP_0009696 UBERON:0002871 biolink:AnatomicalEntity hypoglossal nucleus Nucleus forming a longitudinal cell column in the medulla, close beneath the floor of the 4th ventricle, containing motor neurons that innervate the muscles of the tongue (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 453). HBA:9557|MA:0001039|NCIT:C12899|DHBA:12545|FMA:54505|EHDAA2:0004635|ncithesaurus:Nucleus_of_the_Hypoglossal_Nerve|BM:XII|BAMS:12N|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=757|UMLS:C0228802|EMAPA:35416|BAMS:12|Wikipedia:Hypoglossal_nucleus|EV:0100286|UMLS:C0228802|SCTID:47361005|MBA:773|VHOG:0001358|BAMS:XII|BIRNLEX:2644 hp.json hypoglossal XII nucleus|nucleus nervi hypoglossi|hypoglossal nucleus|nucleus nervi hypoglossi|twelfth cranial nerve nucleus|nucleus nervi hypoglossi|nucleus of hypoglossal nerve|hypoglossal nerve nucleus|nucleus hypoglossalis http://purl.obolibrary.org/obo/UBERON_0002871 uberon_slim|pheno_slim HP:0007034 biolink:PhenotypicFeature Generalized hyperreflexia UMLS:C4024949 hp.json Generalised hyperreflexia http://purl.obolibrary.org/obo/HP_0007034 UBERON:0000210 biolink:AnatomicalEntity tetrapod parietal bone In humans: bone forming side and roof of cranium. Each bone is irregularly quadrilateral in form, and has two surfaces, four borders, and four angles. MA:0001469|FMA:9613|AAO:0000390|NCIT:C12766|UMLS:C0030558|VHOG:0001326|MESH:D010294|GAID:229|EMAPA:18715|VHOG:0001324 hp.json parietal bone|parietal|actinopterygian frontal bone|os parietale|frontal bone|os parietale http://purl.obolibrary.org/obo/UBERON_0000210 pheno_slim HP:0009695 biolink:PhenotypicFeature Stippling of thumb epiphysis The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb. UMLS:C4021401 hp.json Stippling of the epiphyses of the thumb|Speckled calcifications in end part of thumb bone http://purl.obolibrary.org/obo/HP_0009695 HP:0009670 biolink:PhenotypicFeature Ivory epiphysis of the proximal phalanx of the thumb Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024247 hp.json Increased bone density of end part of the innermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009670 NCBITaxon:35493 biolink:OrganismalEntity Streptophyta GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_35493 HP:0010665 biolink:PhenotypicFeature Bilateral coxa valga The presence of bilateral coxa valga. UMLS:C3810018 hp.json http://purl.obolibrary.org/obo/HP_0010665 HP:0032013 biolink:PhenotypicFeature Hypermetric horizontal saccades Overshoot of horizontal (sideways) saccadic eye movements. hp.json http://purl.obolibrary.org/obo/HP_0032013 HP:0010664 biolink:PhenotypicFeature Fusion of the left and right thalami A developmental defect characterized by fusion of the left and right halves of the thalamus. UMLS:C4020769|UMLS:C1834930 hp.json Fusion of thamali|Fused thalami|Undivided thalami http://purl.obolibrary.org/obo/HP_0010664 HP:0032014 biolink:PhenotypicFeature Dysmetric vertical saccades Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction. hp.json http://purl.obolibrary.org/obo/HP_0032014 HP:0010663 biolink:PhenotypicFeature Abnormality of thalamus morphology An abnormality of the thalamus. UMLS:C4021243 hp.json Abnormality of the thalamus|Abnormal shape of thalamus http://purl.obolibrary.org/obo/HP_0010663 HP:0032015 biolink:PhenotypicFeature Dysmetric horizontal saccades Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction. hp.json http://purl.obolibrary.org/obo/HP_0032015 HP:0010662 biolink:PhenotypicFeature Abnormality of the diencephalon An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. UMLS:C4023752 hp.json http://purl.obolibrary.org/obo/HP_0010662 HP:0032016 biolink:PhenotypicFeature Abnormal sputum Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. hp.json Abnormal sputum morphology http://purl.obolibrary.org/obo/HP_0032016 HP:0010661 biolink:PhenotypicFeature Absence of the third cerebral ventricle A developmental defect characterized by the absence of the third ventricle. UMLS:C4023753 hp.json http://purl.obolibrary.org/obo/HP_0010661 HP:0032010 biolink:PhenotypicFeature Basic constant exotropia Constant exotropia for near and distance, presenting after 6 months of age. hp.json Basic (constant) exotropia http://purl.obolibrary.org/obo/HP_0032010 HP:0010660 biolink:PhenotypicFeature Abnormal hand bone ossification An abnormality of the formation and mineralization of any bone of the skeleton of hand. UMLS:C4021244 hp.json Abnormal maturation of the hand bones|Abnormality of the mineralisation and ossification of bones of the hand|Abnormal ossification of hand bones http://purl.obolibrary.org/obo/HP_0010660 HP:0032011 biolink:PhenotypicFeature Heterophoria Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs. hp.json http://purl.obolibrary.org/obo/HP_0032011 HP:0032012 biolink:PhenotypicFeature Heterotropia Manifest deviation of the visual axes not controlled by fusion. hp.json http://purl.obolibrary.org/obo/HP_0032012 HP:0010669 biolink:PhenotypicFeature Hypoplasia of the zygomatic bone Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. UMLS:C4280370|UMLS:C4021242|UMLS:C4072879|UMLS:C4280369|UMLS:C4280368 hp.json Small malar bone|Cheekbone underdevelopment|Decreased size of zygomatic bone|Hypotrophy of the zygomatic bone|Depressed zygomatic bone|Small cheekbone|Decreased size of cheekbone|Depressed cheekbone|Underdevelopment of zygomatic bone|Hypotrophy of the cheekbone|Small zygomatic bone|Underdevelopment of cheekbone|Hypoplasia of cheekbone|Flattening of the zygomatic bone|Hypotrophic zygomatic bone|Hypotrophic cheekbone http://purl.obolibrary.org/obo/HP_0010669 HP:0007006 biolink:PhenotypicFeature Dorsal column degeneration UMLS:C4024953 hp.json http://purl.obolibrary.org/obo/HP_0007006 HP:0009669 biolink:PhenotypicFeature Irregular epiphysis of the proximal phalanx of the thumb Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024248 hp.json Irregular end part of thumb innermost long bone http://purl.obolibrary.org/obo/HP_0009669 HP:0032017 biolink:PhenotypicFeature Sputum eosinophilia An increased proportion of eosinophils in sputum in the differentiated cell count. hp.json http://purl.obolibrary.org/obo/HP_0032017 HP:0010668 biolink:PhenotypicFeature Abnormal zygomatic bone morphology An abnormality of the zygomatic bone. UMLS:C4023749 hp.json Deformity of the zygomatic bone|Malformation of the zygomatic bone|Abnormality of the zygomatic bone|Anomaly of the zygomatic bone|Abnormal malar bone morphology|Deformity of the cheekbone|Abnormality of the cheekbone http://purl.obolibrary.org/obo/HP_0010668 HP:0007007 biolink:PhenotypicFeature Cavitation of the basal ganglia The formation of small cavities in the tissue of the basal ganglia. UMLS:C4024952 hp.json http://purl.obolibrary.org/obo/HP_0007007 HP:0009668 biolink:PhenotypicFeature Fragmentation of the epiphysis of the proximal phalanx of the thumb Epiphysis of the proximal phalanx of the thumb having multiple bony fragments. UMLS:C4024249 hp.json Fragmentation of end part of thumb innermost long bone http://purl.obolibrary.org/obo/HP_0009668 HP:0032018 biolink:PhenotypicFeature Multiple mononeuropathy A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially. hp.json Mononeuritis multiplex http://purl.obolibrary.org/obo/HP_0032018 HP:0010667 biolink:PhenotypicFeature Aplasia of the maxilla A congenital defect characterized by absence of the Maxilla. UMLS:C4280371|UMLS:C4023750 hp.json Absence of the maxilla|Failure of development of upper jaw bones|Aplasia of the upper jaw bones|Agenesis of the maxilla|Missing upper jaw bones|Failure of development of maxilla|Absence of upper jaw bones http://purl.obolibrary.org/obo/HP_0010667 HP:0032019 biolink:PhenotypicFeature Muscle eosinophilia Eosinophil infiltration of skeletal muscle. hp.json Eosinophilic infiltration of skeletal muscle http://purl.obolibrary.org/obo/HP_0032019 HP:0010666 biolink:PhenotypicFeature Hypoplasia of the anterior nasal spine Underdevelopment of the anterior nasal spine of maxilla. UMLS:C4023751|UMLS:C4280373|UMLS:C4280372 hp.json Decreased length of anterior nasal spine|Deficiency of anterior nasal spine|Underdevelopment of anterior nasal spine|Small anterior nasal spine|Hypotrophic anterior nasal spine|Decreased size of anterior nasal spine|Decreased projection of anterior nasal spine http://purl.obolibrary.org/obo/HP_0010666 HP:0007009 biolink:PhenotypicFeature Central nervous system degeneration UMLS:C3277687 hp.json CNS degeneration http://purl.obolibrary.org/obo/HP_0007009 UBERON:0000200 biolink:AnatomicalEntity gyrus A ridge on the cerebral cortex. It is generally surrounded by one or more sulci . BTO:0002495|NCIT:C32290|FMA:83874|UMLS:C0458308 hp.json gyri|gyrus of neuraxis|gyrus of cerebral hemisphere|gyrus of cerebrum|cerebral gyrus|folia|folium|gyri of cerebrum|neuraxis gyrus|folium of brain http://purl.obolibrary.org/obo/UBERON_0000200 pheno_slim HP:0009665 biolink:PhenotypicFeature Bracket epiphysis of the proximal phalanx of the thumb An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024252 hp.json Bracket shaped end part of thumb innermost long bone http://purl.obolibrary.org/obo/HP_0009665 HP:0007002 biolink:PhenotypicFeature Motor axonal neuropathy Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. UMLS:C1854570|UMLS:C2749625|UMLS:C4020811 hp.json Distal motor neuropathy|Length dependent motor neuropathy http://purl.obolibrary.org/obo/HP_0007002 HP:0009664 biolink:PhenotypicFeature Absent epiphysis of the proximal phalanx of the thumb Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024253 hp.json Absent end part of thumb innermost long bone http://purl.obolibrary.org/obo/HP_0009664 HP:0009667 biolink:PhenotypicFeature Enlarged epiphysis of the proximal phalanx of the thumb Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024250 hp.json Enlarged end part of thumb innermost long bone http://purl.obolibrary.org/obo/HP_0009667 UBERON:0000203 biolink:AnatomicalEntity pallium Dorsal part (roof region) of the telencephalon[GO]. DMBA:15903|ZFA:0000505|Wikipedia:Pallium_(neuroanatomy)|BTO:0003399|TAO:0000505|Wikipedia:Avian_pallium|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=3240|TAO:0007007|EFO:0003534|SCTID:369224000 hp.json dorsal telencephalic area|dorsal telencephalon|dorsal part of telencephalon|area dorsalis telencephali http://purl.obolibrary.org/obo/UBERON_0000203 developmental_classification|efo_slim HP:0009666 biolink:PhenotypicFeature Cone-shaped epiphysis of the proximal phalanx of the thumb A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024251 hp.json Cone-shaped end part of thumb innermost long bone http://purl.obolibrary.org/obo/HP_0009666 GO:0001910 biolink:BiologicalProcess regulation of leukocyte mediated cytotoxicity Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity. hp.json regulation of immune cell mediated cytotoxicity|regulation of leucocyte mediated cytotoxicity|regulation of immune cell mediated cell death|regulation of immune cell mediated cell killing http://purl.obolibrary.org/obo/GO_0001910 HP:0009660 biolink:PhenotypicFeature Short phalanx of the thumb Hypoplastic (short) thumb phalanx. UMLS:C4021411 hp.json Hypoplastic/small phalanges of the thumb|Hypoplastic thumb phalanges|Short thumb bone|Short thumb phalanges http://purl.obolibrary.org/obo/HP_0009660 GO:0001911 biolink:BiologicalProcess negative regulation of leukocyte mediated cytotoxicity Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity. hp.json down-regulation of leukocyte mediated cytotoxicity|down regulation of leukocyte mediated cytotoxicity|downregulation of leukocyte mediated cytotoxicity|inhibition of leukocyte mediated cytotoxicity|negative regulation of immune cell mediated cytotoxicity|negative regulation of leucocyte mediated cytotoxicity http://purl.obolibrary.org/obo/GO_0001911 HP:0007000 biolink:PhenotypicFeature Morning myoclonic jerks UMLS:C1847164 hp.json http://purl.obolibrary.org/obo/HP_0007000 HP:0009663 biolink:PhenotypicFeature Abnormality of the epiphysis of the proximal phalanx of the thumb This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024254 hp.json Abnormality of end part of thumb innermost long bone http://purl.obolibrary.org/obo/HP_0009663 GO:0001912 biolink:BiologicalProcess positive regulation of leukocyte mediated cytotoxicity Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity. hp.json activation of leukocyte mediated cytotoxicity|stimulation of leukocyte mediated cytotoxicity|upregulation of leukocyte mediated cytotoxicity|positive regulation of immune cell mediated cytotoxicity|positive regulation of leucocyte mediated cytotoxicity|up-regulation of leukocyte mediated cytotoxicity|up regulation of leukocyte mediated cytotoxicity http://purl.obolibrary.org/obo/GO_0001912 HP:0009662 biolink:PhenotypicFeature Abnormality of the epiphysis of the distal phalanx of the thumb Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx. UMLS:C4021410 hp.json Abnormality of the end part of the outermost bone of the thumb|Abnormality of terminal thumb epiphysis http://purl.obolibrary.org/obo/HP_0009662 HP:0007001 biolink:PhenotypicFeature Loss of Purkinje cells in the cerebellar vermis UMLS:C1849146 hp.json http://purl.obolibrary.org/obo/HP_0007001 HP:0009681 biolink:PhenotypicFeature Ivory epiphysis of the distal phalanx of the thumb Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4024238 hp.json Increased bone density of end part of the outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009681 HP:0009680 biolink:PhenotypicFeature Irregular epiphysis of the distal phalanx of the thumb Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb. UMLS:C4024239 hp.json Irregular end part of thumb outermost bone http://purl.obolibrary.org/obo/HP_0009680 HP:0032024 biolink:PhenotypicFeature Ileal ulcer An erosion of the mucous membrane in a portion of the ileum. hp.json http://purl.obolibrary.org/obo/HP_0032024 HP:0010654 biolink:PhenotypicFeature Aplasia of the falx cerebri A developmental defect characterized by aplasia of the Falx cerebri. UMLS:C4023756 hp.json Absent cerebral falx http://purl.obolibrary.org/obo/HP_0010654 HP:0032025 biolink:PhenotypicFeature Reduced serum alpha-1-antitrypsin A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. hp.json http://purl.obolibrary.org/obo/HP_0032025 HP:0010653 biolink:PhenotypicFeature Abnormality of the falx cerebri An abnormality of the Falx cerebri. UMLS:C4021247 hp.json Abnormality of the cerebral falx http://purl.obolibrary.org/obo/HP_0010653 HP:0010652 biolink:PhenotypicFeature Abnormal dura mater morphology An abnormality of the Dura mater. UMLS:C4023757 hp.json Abnormality of the dura mater http://purl.obolibrary.org/obo/HP_0010652 HP:0032026 biolink:PhenotypicFeature Anetoderma Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis. hp.json http://purl.obolibrary.org/obo/HP_0032026 HP:0032027 biolink:PhenotypicFeature Retinal dots Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. hp.json http://purl.obolibrary.org/obo/HP_0032027 HP:0010651 biolink:PhenotypicFeature Abnormal meningeal morphology An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. UMLS:C4023758 hp.json Abnormality of the meninges http://purl.obolibrary.org/obo/HP_0010651 HP:0010650 biolink:PhenotypicFeature Hypoplasia of the premaxilla An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. UMLS:C4020770|UMLS:C4072878 hp.json Underdevelopment of premaxilla|Small primary palate bone|Premaxillary bone deficiency|Premaxillary retrusion|Underdevelopment of the premaxilla|Primary palate bone retrusion|Underdevelopment of the primary palate bone|Small premaxilla|Hypoplasia of the intermaxillary bone|Hypoplasia of the primary palate bone|Decreased size of premaxilla|Decreased size of the primary palate bone|Premaxillary bone retrusion|Primary palate bone deficiency|Premaxillary underdevelopment http://purl.obolibrary.org/obo/HP_0010650 hposlim_core HP:0032020 biolink:PhenotypicFeature Eosinophilic bladder infiltration Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis. hp.json Eosinophilic cystitis http://purl.obolibrary.org/obo/HP_0032020 HP:0032021 biolink:PhenotypicFeature Eosinophilic liver infiltration Cellular infiltration of the liver parenchyma with a preponderance of eosinophils. hp.json Eosinophilic hepatitis http://purl.obolibrary.org/obo/HP_0032021 HP:0032022 biolink:PhenotypicFeature Eosinophilic dermal infiltration Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils. hp.json Eosinophilic dermatitis http://purl.obolibrary.org/obo/HP_0032022 HP:0032023 biolink:PhenotypicFeature Eosinophilic gallbladder infiltration Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination. hp.json Eosinophilic cholecystitis http://purl.obolibrary.org/obo/HP_0032023 HP:0010659 biolink:PhenotypicFeature Patchy variation in bone mineral density Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. UMLS:C4021245 hp.json Patchy increased and decreased bone mineral density http://purl.obolibrary.org/obo/HP_0010659 HP:0010658 biolink:PhenotypicFeature Patchy changes of bone mineral density Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). UMLS:C4023754 hp.json http://purl.obolibrary.org/obo/HP_0010658 HP:0032028 biolink:PhenotypicFeature Macular dots Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. hp.json http://purl.obolibrary.org/obo/HP_0032028 HP:0007017 biolink:PhenotypicFeature Progressive forgetfulness UMLS:C3277688 hp.json Forgetfullness http://purl.obolibrary.org/obo/HP_0007017 HP:0010657 biolink:PhenotypicFeature Patchy reduction of bone mineral density Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4023755 hp.json http://purl.obolibrary.org/obo/HP_0010657 HP:0009679 biolink:PhenotypicFeature Fragmentation of the epiphysis of the distal phalanx of the thumb Epiphysis of the distal phalanx of the thumb having multiple bony fragments. UMLS:C4024240 hp.json Fragmentation of end part thumb outermost long bone http://purl.obolibrary.org/obo/HP_0009679 HP:0007018 biolink:PhenotypicFeature Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. SNOMEDCT_US:7461003|UMLS:C1263846|SNOMEDCT_US:406506008|MSH:D001289 hp.json Attention deficits|Attention deficit-hyperactivity disorder|Attention deficit|Attention deficit disorder|Childhood attention deficit/hyperactivity disorder|ADHD http://purl.obolibrary.org/obo/HP_0007018 HP:0032029 biolink:PhenotypicFeature Floppy eyelid Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis. hp.json http://purl.obolibrary.org/obo/HP_0032029 HP:0010656 biolink:PhenotypicFeature Abnormal epiphyseal ossification An abnormality of the formation and mineralization of an epiphysis. UMLS:C4021246 hp.json Abnormal maturation of the end part of a bone|Abnormality of the mineralisation or ossification of the epiphyses http://purl.obolibrary.org/obo/HP_0010656 HP:0010655 biolink:PhenotypicFeature Epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. SNOMEDCT_US:360507004|UMLS:C1859126 hp.json Stippled epiphyses|Stippling of the epiphyses|Speckled calcifications in end part of bone|Epiphyseal punctate calcifications http://purl.obolibrary.org/obo/HP_0010655 HP:0009676 biolink:PhenotypicFeature Bracket epiphysis of the distal phalanx of the thumb An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. UMLS:C4024241 hp.json Bracket shaped end part of thumb outermost long bone http://purl.obolibrary.org/obo/HP_0009676 HP:0009675 biolink:PhenotypicFeature Absent epiphysis of the distal phalanx of the thumb Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb. UMLS:C4024242 hp.json Absent end part of thumb outermost long bone http://purl.obolibrary.org/obo/HP_0009675 PR:P06744 biolink:Protein glucose-6-phosphate isomerase (human) A glucose-6-phosphate isomerase that is encoded in the genome of human. UniProtKB:P06744 hp.json GPI|sperm antigen 36 (human)|PGI (human)|SA-36 (human)|PHI (human)|phosphoglucose isomerase (human)|hGPI|phosphohexose isomerase (human)|neuroleukin (human)|NLK (human)|AMF (human)|autocrine motility factor (human) http://purl.obolibrary.org/obo/PR_P06744 HP:0007015 biolink:PhenotypicFeature Poor gross motor coordination An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts. UMLS:C1867863 hp.json Gross motor impairment http://purl.obolibrary.org/obo/HP_0007015 HP:0009678 biolink:PhenotypicFeature Enlarged epiphysis of the distal phalanx of the thumb Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. UMLS:C4021408 hp.json Large terminal thumb phalanx epiphysis|Enlarged end part of thumb outermost long bone http://purl.obolibrary.org/obo/HP_0009678 HP:0009677 biolink:PhenotypicFeature Cone-shaped epiphysis of the distal phalanx of the thumb A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4021409 hp.json Cone-shaped end part of thumb outermost long bone|Cone-shaped terminal thumb phalanx epiphysis http://purl.obolibrary.org/obo/HP_0009677 HP:0007016 biolink:PhenotypicFeature Corticospinal tract hypoplasia UMLS:C1844007 hp.json http://purl.obolibrary.org/obo/HP_0007016 HP:0009672 biolink:PhenotypicFeature Small epiphysis of the proximal phalanx of the thumb Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. UMLS:C4024245 hp.json Small end part of thumb innermost long bone http://purl.obolibrary.org/obo/HP_0009672 HP:0009671 biolink:PhenotypicFeature Pseudoepiphysis of the proximal phalanx of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb. UMLS:C4024246 hp.json http://purl.obolibrary.org/obo/HP_0009671 HP:0007010 biolink:PhenotypicFeature Poor fine motor coordination An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. UMLS:C1867864 hp.json Impaired fine motor skills|Fine motor disability|Fine motor impairment|Fine motor skill dysfunction http://purl.obolibrary.org/obo/HP_0007010 HP:0007011 biolink:PhenotypicFeature Fourth cranial nerve palsy Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly. SNOMEDCT_US:20610004|MSH:D020432|UMLS:C0271375 hp.json Trochlear nerve palsy http://purl.obolibrary.org/obo/HP_0007011 HP:0009674 biolink:PhenotypicFeature Triangular epiphysis of the proximal phalanx of the thumb A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024243 hp.json Triangular end part of thumb innermost long bone http://purl.obolibrary.org/obo/HP_0009674 HP:0009673 biolink:PhenotypicFeature Stippling of the epiphysis of the proximal phalanx of the thumb The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024244 hp.json Speckled calcifications in end part of thumb innermost long bone http://purl.obolibrary.org/obo/HP_0009673 HP:0007074 biolink:PhenotypicFeature Thick corpus callosum Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. UMLS:C1835194 hp.json Abnormal size of corpus callosum|Large corpus callosum http://purl.obolibrary.org/obo/HP_0007074 UBERON:0012240 biolink:AnatomicalEntity urethral meatus External opening or orifice of the urethra through which urine and seminal fluid (in males only) leave the body; in males the meatus presents as a vertical slit normally positioned at the tip of glans penis; in females the meatus is located between the clitoris and the vagina in the vulvular vestibule of the female genitalia[MP]. FMA:19650|EMAPA:37977 hp.json external urethral orifice|orificium urethrae externum|orificium urethræ externum|external urethral ostium|meatus urinarius|external urinary meatus|urethral meatus|urinary meatus|external meatus of urethra http://purl.obolibrary.org/obo/UBERON_0012240 pheno_slim GO:0050900 biolink:BiologicalProcess leukocyte migration The movement of a leukocyte within or between different tissues and organs of the body. hp.json leucocyte trafficking|immune cell trafficking|leucocyte migration|immune cell migration|leukocyte trafficking http://purl.obolibrary.org/obo/GO_0050900 HP:0020049 biolink:PhenotypicFeature Exodeviation A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. hp.json Divergent strabismus http://purl.obolibrary.org/obo/HP_0020049 CHEBI:25414 biolink:ChemicalSubstance monoatomic monocation hp.json monovalent inorganic cations|monoatomic monocations http://purl.obolibrary.org/obo/CHEBI_25414 3_STAR UBERON:0012242 biolink:AnatomicalEntity internal urethral orifice The usually crescent-shaped opening of the urinary bladder into the urethra, placed at the anteroinferior angle (apex) of the urinary bladder trigone. FMA:85263 hp.json vesicourethral orifice|internal urethral ostium|internal urinary meatus|ostium orificium internum|internal meatus of urethra|internal urethral orifice of urinary bladder|ostium urethrae internum|internal urethral ostium|orificium urethrae internum http://purl.obolibrary.org/obo/UBERON_0012242 pheno_slim UBERON:0012241 biolink:AnatomicalEntity male urethral meatus A urethral meatus that is part of a male urethra[Automatically generated definition]. FMA:85265|EMAPA:36434|MA:0002642 hp.json distal urethral opening of male|external orifice of male urethra|urethral meatus of penile urethra|urethral opening of penile urethra|external urethral orifice (male)|ostium urethrae externum (urethra masculina)|male urethra ostium http://purl.obolibrary.org/obo/UBERON_0012241 UBERON:0012248 biolink:AnatomicalEntity cervical mucosa Lining of the head of the uterus (cervix); contains large branched glands; does not undergo sloughing. BTO:0000411 hp.json http://purl.obolibrary.org/obo/UBERON_0012248 GO:0050907 biolink:BiologicalProcess detection of chemical stimulus involved in sensory perception The series of events in which a chemical stimulus is received and converted into a molecular signal as part of sensory perception. hp.json sensory perception, sensory transduction of chemical stimulus|sensory transduction of chemical stimulus during sensory perception|sensory perception, sensory detection of chemical stimulus|sensory transduction of chemical stimulus|sensory detection of chemical stimulus during sensory perception|sensory detection of chemical stimulus http://purl.obolibrary.org/obo/GO_0050907 GO:0050908 biolink:BiologicalProcess detection of light stimulus involved in visual perception The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal. hp.json sensory transduction of light stimulus during visual perception|visual perception, detection of light stimulus|sensory transduction of light during visual perception|visual perception, sensory transduction of light stimulus|sensory detection of light stimulus during visual perception|visual perception, sensory transduction during perception of light|sensory detection of light during visual perception http://purl.obolibrary.org/obo/GO_0050908 UBERON:0012247 biolink:AnatomicalEntity cervical gland Mucus-secreting glands in the mucosa of the uterine cervix. UMLS:C2724437|NCIT:C32296 hp.json glandulae cervicales http://purl.obolibrary.org/obo/UBERON_0012247 human_reference_atlas GO:0050905 biolink:BiologicalProcess neuromuscular process Any process pertaining to the functions of the nervous and muscular systems of an organism. hp.json neuromotor process|neuromuscular physiological process http://purl.obolibrary.org/obo/GO_0050905 GO:0050906 biolink:BiologicalProcess detection of stimulus involved in sensory perception The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal. Wikipedia:Transduction_(physiology) hp.json sensory perception, stimulus detection|sensory detection of stimulus|sensory transduction|sensory perception, sensory transduction of stimulus http://purl.obolibrary.org/obo/GO_0050906 GO:2001198 biolink:BiologicalProcess regulation of dendritic cell differentiation Any process that modulates the frequency, rate or extent of dendritic cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2001198 UBERON:0012239 biolink:AnatomicalEntity urinary bladder vasculature Network of tubes that carries blood through the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys[MP]. EMAPA:28679 hp.json blood vessel of bladder|bladder vasculature|set of urinary bladder blood vessels|blood vessels of bladder http://purl.obolibrary.org/obo/UBERON_0012239 pheno_slim|human_reference_atlas GO:2001199 biolink:BiologicalProcess negative regulation of dendritic cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2001199 HP:0020046 biolink:PhenotypicFeature Accommodative esotropia A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. hp.json http://purl.obolibrary.org/obo/HP_0020046 HP:0007068 biolink:PhenotypicFeature Inferior cerebellar vermis hypoplasia Underdevelopment of the inferior portion of the vermis of cerebellum. UMLS:C1855350 hp.json Hypoplasia of inferior vermis|Inferior vermis hypoplasia http://purl.obolibrary.org/obo/HP_0007068 HP:0020045 biolink:PhenotypicFeature Esodeviation A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. hp.json Convergent squint|Convergent strabismus http://purl.obolibrary.org/obo/HP_0020045 HP:0007069 biolink:PhenotypicFeature Profound static encephalopathy UMLS:C4024944 hp.json http://purl.obolibrary.org/obo/HP_0007069 HP:0020048 biolink:PhenotypicFeature Reduced bone-marrow pro-B cell count A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19. hp.json http://purl.obolibrary.org/obo/HP_0020048 HP:0020047 biolink:PhenotypicFeature Abnormal myeloid cell morphology Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. hp.json http://purl.obolibrary.org/obo/HP_0020047 HP:0020042 biolink:PhenotypicFeature Double depressor palsy An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. hp.json http://purl.obolibrary.org/obo/HP_0020042 HP:0007064 biolink:PhenotypicFeature Progressive language deterioration Progressive loss of previously present language abilities. UMLS:C1843793 hp.json http://purl.obolibrary.org/obo/HP_0007064 HP:0020041 biolink:PhenotypicFeature Double elevator palsy A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. hp.json http://purl.obolibrary.org/obo/HP_0020041 HP:0007065 biolink:PhenotypicFeature Disorganization of the anterior cerebellar vermis UMLS:C1845369 hp.json Disorganisation of the anterior cerebellar vermis http://purl.obolibrary.org/obo/HP_0007065 HP:0020044 biolink:PhenotypicFeature Horizontal incomitant strabismus hp.json http://purl.obolibrary.org/obo/HP_0020044 HP:0007066 biolink:PhenotypicFeature Proximal limb muscle stiffness Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle. UMLS:C1861460 hp.json http://purl.obolibrary.org/obo/HP_0007066 HP:0007067 biolink:PhenotypicFeature Distal peripheral sensory neuropathy Peripheral sensory neuropathy affecting primarily distal sensation. UMLS:C4021582 hp.json Peripheral sensory neuropathy, distal http://purl.obolibrary.org/obo/HP_0007067 HP:0020043 biolink:PhenotypicFeature Vertical incomitant strabismus A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. hp.json http://purl.obolibrary.org/obo/HP_0020043 HP:0007082 biolink:PhenotypicFeature Dilated third ventricle An increase in size of the third ventricle. UMLS:C4024941 hp.json http://purl.obolibrary.org/obo/HP_0007082 HP:0007083 biolink:PhenotypicFeature Hyperactive patellar reflex UMLS:C0240116 hp.json Hyperreflexia in knees|Brisk knee jerk|Overactive knee reflex http://purl.obolibrary.org/obo/HP_0007083 UBERON:0014890 biolink:AnatomicalEntity right hemisphere of cerebellum A cerebellar hemisphere that is in_the_right_side_of a cerebellum. FMA:83876 hp.json http://purl.obolibrary.org/obo/UBERON_0014890 pheno_slim UBERON:0014891 biolink:AnatomicalEntity brainstem white matter White matter that is part of a brainstem [Automatically generated definition]. FMA:282112|SCTID:360442003|EMAPA:35189|MA:0002741 hp.json brainstem tracts|brainstem tracts and commissures|brainstem tract/commissure|brain stem white matter http://purl.obolibrary.org/obo/UBERON_0014891 pheno_slim GO:0050910 biolink:BiologicalProcess detection of mechanical stimulus involved in sensory perception of sound The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal. hp.json sensory detection of mechanical stimulus during perception of sound|perception of sound, sensory detection of mechanical stimulus|perception of sound, detection of mechanical stimulus|detection of sound|hearing, sensory transduction of sound|sensory transduction of mechanical stimulus during perception of sound|perception of sound, sensory transduction of mechanical stimulus|sensory transduction of sound http://purl.obolibrary.org/obo/GO_0050910 GO:0050911 biolink:BiologicalProcess detection of chemical stimulus involved in sensory perception of smell The series of events involved in the perception of smell in which an olfactory chemical stimulus is received and converted into a molecular signal. hp.json sensory transduction of scent|sensory detection of chemical stimulus during perception of smell|sensory transduction of smell|perception of smell, sensory transduction of chemical stimulus|sensory detection of scent|sensory transduction of chemical stimulus during perception of smell|sensory detection of smell|perception of smell, sensory detection of chemical stimulus|perception of smell, detection of chemical stimulus http://purl.obolibrary.org/obo/GO_0050911 HP:0020038 biolink:PhenotypicFeature Vertebrobasilar dolichoectasia Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm. hp.json http://purl.obolibrary.org/obo/HP_0020038 HP:0007081 biolink:PhenotypicFeature Late-onset muscular dystrophy UMLS:C4024942 hp.json http://purl.obolibrary.org/obo/HP_0007081 GO:0050912 biolink:BiologicalProcess detection of chemical stimulus involved in sensory perception of taste The series of events involved in the perception of taste in which a gustatory chemical stimulus is received and converted into a molecular signal. hp.json taste perception|perception of taste, sensory transduction of chemical stimulus|sensory transduction of taste|sensory detection of chemical stimulus during perception of taste|sensory detection of taste|sensory transduction of chemical stimulus during perception of taste|perception of taste, sensory detection of chemical stimulus|perception of taste, detection of chemical stimulus http://purl.obolibrary.org/obo/GO_0050912 UBERON:0014892 biolink:AnatomicalEntity skeletal muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). EFO:0000888|MA:0003148|VHOG:0000319|MAT:0000302|XAO:0000174|GAID:141|EV:0100377|EHDAA:5984|ZFA:0005277|MIAA:0000302|CALOHA:TS-0933|EMAPA:35988|BTO:0001103|EHDAA:5035|TAO:0005277|AAO:0011099|EHDAA:5043|OpenCyc:Mx4rv2kf-5wpEbGdrcN5Y29ycA|EHDAA:5978|MESH:D018482 hp.json skeletal muscle http://purl.obolibrary.org/obo/UBERON_0014892 UBERON:0012236 biolink:AnatomicalEntity intercostal lymph node The intercostal lymph nodes (intercostal glands ) occupy the posterior parts of the intercostal spaces, in relation to the intercostal vessels. They receive the deep lymphatics from the postero-lateral aspect of the chest; some of these vessels are interrupted by small lateral intercostal glands. NCIT:C77652|UMLS:C0229761|FMA:5932 hp.json nodus intercostale|intercostal node|nodi lymphoidei intercostales http://purl.obolibrary.org/obo/UBERON_0012236 GO:0050909 biolink:BiologicalProcess sensory perception of taste The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process. Wikipedia:Taste hp.json taste|gustation|sense of taste|taste perception http://purl.obolibrary.org/obo/GO_0050909 UBERON:0014889 biolink:AnatomicalEntity left hemisphere of cerebellum A cerebellar hemisphere that is in_the_left_side_of a cerebellum. FMA:83877 hp.json http://purl.obolibrary.org/obo/UBERON_0014889 pheno_slim GO:0001909 biolink:BiologicalProcess leukocyte mediated cytotoxicity The directed killing of a target cell by a leukocyte. hp.json leucocyte mediated cytotoxicity|immune cell mediated cytotoxicity|immune cell mediated cell death|immune cell mediated cell killing http://purl.obolibrary.org/obo/GO_0001909 HP:0020035 biolink:PhenotypicFeature Lower limb dysmetria A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg. hp.json http://purl.obolibrary.org/obo/HP_0020035 HP:0020034 biolink:PhenotypicFeature Diffuse A spatial pattern that is spread out, i.e., not localized. SNOMEDCT_US:19648000|UMLS:C0205219 hp.json http://purl.obolibrary.org/obo/HP_0020034 HP:0020037 biolink:PhenotypicFeature Astasia A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. hp.json http://purl.obolibrary.org/obo/HP_0020037 HP:0020036 biolink:PhenotypicFeature Upper limb dysmetria A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. hp.json http://purl.obolibrary.org/obo/HP_0020036 GO:0001906 biolink:BiologicalProcess cell killing Any process in an organism that results in the killing of its own cells or those of another organism, including in some cases the death of the other organism. Killing here refers to the induction of death in one cell by another cell, not cell-autonomous death due to internal or other environmental conditions. hp.json necrosis http://purl.obolibrary.org/obo/GO_0001906 goslim_pir HP:0007076 biolink:PhenotypicFeature Extrapyramidal muscular rigidity Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). UMLS:C1852470 hp.json http://purl.obolibrary.org/obo/HP_0007076 HP:0007078 biolink:PhenotypicFeature Decreased amplitude of sensory action potentials A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. UMLS:C4024943 hp.json http://purl.obolibrary.org/obo/HP_0007078 HP:0007052 biolink:PhenotypicFeature Multifocal cerebral white matter abnormalities UMLS:C1833434 hp.json http://purl.obolibrary.org/obo/HP_0007052 GO:0050921 biolink:BiologicalProcess positive regulation of chemotaxis Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. hp.json upregulation of chemotaxis|stimulation of chemotaxis|up regulation of chemotaxis|up-regulation of chemotaxis|activation of chemotaxis http://purl.obolibrary.org/obo/GO_0050921 GO:0050922 biolink:BiologicalProcess negative regulation of chemotaxis Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. hp.json down regulation of chemotaxis|inhibition of chemotaxis|down-regulation of chemotaxis|downregulation of chemotaxis http://purl.obolibrary.org/obo/GO_0050922 GO:0050920 biolink:BiologicalProcess regulation of chemotaxis Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. hp.json http://purl.obolibrary.org/obo/GO_0050920 UBERON:0014885 biolink:AnatomicalEntity distal epiphysis of distal phalanx of manual digit 5 A distal epiphysis that is part of a distal phalanx of manual digit 5. FMA:37657 hp.json head of distal phalanx of fifth digit of hand|distal epiphysis of distal phalanx of manual digit V|distal epiphysis of distal phalanx of little finger|head of distal phalanx of fifth finger|distal end of distal phalanx of little finger|ungual tuberosity of distal phalanx of little finger|distal end of distal phalanx of fifth finger|head of distal phalanx of little finger http://purl.obolibrary.org/obo/UBERON_0014885 UBERON:0014886 biolink:AnatomicalEntity distal epiphysis of distal phalanx of manual digit hp.json distal end of distal phalanx of finger|head of distal phalanx of digit of manus|head of distal phalanx of digit of hand|head of distal phalanx of finger http://purl.obolibrary.org/obo/UBERON_0014886 UBERON:0014887 biolink:AnatomicalEntity distal epiphysis of distal phalanx of digit A distal epiphysis that is part of a distal phalanx. hp.json head of distal phalanx of digit of autopod|distal end of distal phalanx of digit|head of distal phalanx|head of distal phalanx of digit http://purl.obolibrary.org/obo/UBERON_0014887 UBERON:0014881 biolink:AnatomicalEntity distal epiphysis of distal phalanx of manual digit 1 A distal epiphysis that is part of a distal phalanx of manual digit 1. FMA:37609 hp.json distal end of phalanx of right thumb|distal epiphysis of distal phalanx of thumb|ungual tuberosity of distal phalanx of thumb|head of distal phalanx of thumb|head of distal phalanx of first digit of hand|distal epiphysis of distal phalanx of manual digit I http://purl.obolibrary.org/obo/UBERON_0014881 UBERON:0014882 biolink:AnatomicalEntity distal epiphysis of distal phalanx of manual digit 2 A distal epiphysis that is part of a distal phalanx of manual digit 2. FMA:37621 hp.json distal end of distal phalanx of second finger|distal end of distal phalanx of index finger|distal epiphysis of distal phalanx of index finger|head of distal phalanx of second finger|ungual tuberosity of distal phalanx of index finger|distal epiphysis of distal phalanx of manual digit II|head of distal phalanx of index finger http://purl.obolibrary.org/obo/UBERON_0014882 UBERON:0014883 biolink:AnatomicalEntity distal epiphysis of distal phalanx of manual digit 3 A distal epiphysis that is part of a distal phalanx of manual digit 3. FMA:37633 hp.json distal epiphysis of distal phalanx of manual digit III|distal epiphysis of distal phalanx of middle finger|head of distal phalanx of third finger|distal end of distal phalanx of middle finger|ungual tuberosity of distal phalanx of middle finger|distal end of distal phalanx of third finger|head of distal phalanx of middle finger|head of distal phalanx of third digit of hand http://purl.obolibrary.org/obo/UBERON_0014883 UBERON:0014884 biolink:AnatomicalEntity distal epiphysis of distal phalanx of manual digit 4 A distal epiphysis that is part of a distal phalanx of manual digit 4. FMA:37645 hp.json ungual tuberosity of distal phalanx of ring finger|head of distal phalanx of ring finger|head of distal phalanx of fourth digit of hand|distal end of distal phalanx of fourth finger|head of distal phalanx of fourth finger|distal epiphysis of distal phalanx of ring finger|distal end of distal phalanx of ring finger|distal epiphysis of distal phalanx of manual digit IV http://purl.obolibrary.org/obo/UBERON_0014884 HP:0007047 biolink:PhenotypicFeature Atrophy of the dentate nucleus Partial or complete wasting (loss) of dentate nucleus. UMLS:C1857788 hp.json http://purl.obolibrary.org/obo/HP_0007047 HP:0007048 biolink:PhenotypicFeature Large basal ganglia Increased size of the basal ganglia. UMLS:C1859470 hp.json http://purl.obolibrary.org/obo/HP_0007048 HP:0007042 biolink:PhenotypicFeature Focal white matter lesions UMLS:C4024946 hp.json http://purl.obolibrary.org/obo/HP_0007042 HP:0007045 biolink:PhenotypicFeature Midline brain calcifications UMLS:C1855487 hp.json http://purl.obolibrary.org/obo/HP_0007045 HP:0010690 biolink:PhenotypicFeature Mirror image hand polydactyly Mirror image duplication of digits affecting the hands only. UMLS:C4021239 hp.json Mirror image dupliction of fingers http://purl.obolibrary.org/obo/HP_0010690 hposlim_core HP:0007063 biolink:PhenotypicFeature Aplasia of the inferior half of the cerebellar vermis UMLS:C1857787 hp.json Absent inferior half of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0007063 GO:0050932 biolink:BiologicalProcess regulation of pigment cell differentiation Any process that modulates the frequency, rate or extent of pigmented cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0050932 GO:0050931 biolink:BiologicalProcess pigment cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a pigmented cell, such as a melanocyte. hp.json chromatophore differentiation|pigmented cell differentiation http://purl.obolibrary.org/obo/GO_0050931 HP:0010698 biolink:PhenotypicFeature Nuclear pulverulent cataract A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. UMLS:C4021237 hp.json cataracta pulverulenta centralis|Coppock-like cataract|Central pulverulent cataract|Pulverulent nuclear cataract http://purl.obolibrary.org/obo/HP_0010698 UBERON:0014874 biolink:AnatomicalEntity distal epiphysis of distal phalanx of pedal digit 4 A distal epiphysis that is part of a distal phalanx of pedal digit 4. FMA:33091 hp.json head of distal phalanx of fourth toe|distal epiphysis of distal phalanx of pedal digit IV|ungal tuberosity of distal phalanx of fourth toe|distal end of distal phalanx of fourth toe|distal epiphysis of distal phalanx of fourth toe|head of distal phalanx of fourth digit of foot http://purl.obolibrary.org/obo/UBERON_0014874 HP:0010697 biolink:PhenotypicFeature Anterior pyramidal cataract A type of anterior polar cataract which projects as a conical opacity into the anterior chamber. UMLS:C1392099 hp.json Pyramidal cataract http://purl.obolibrary.org/obo/HP_0010697 UBERON:0014875 biolink:AnatomicalEntity distal epiphysis of distal phalanx of pedal digit 5 A distal epiphysis that is part of a distal phalanx of pedal digit 5. FMA:33106 hp.json distal end of distal phalanx of little toe|ungual tuberosity of distal phalanx of fifth toe|distal epiphysis of distal phalanx of little toe|head of distal phalanx of fifth toe|head of distal phalanx of fifth digit of foot|head of distal phalanx of little toe|distal epiphysis of distal phalanx of pedal digit V http://purl.obolibrary.org/obo/UBERON_0014875 UBERON:0014876 biolink:AnatomicalEntity distal epiphysis of distal phalanx of pedal digit hp.json distal end of distal phalanx of toe|head of distal phalanx of digit of pes|head of distal phalanx of toe|head of distal phalanx of digit of foot http://purl.obolibrary.org/obo/UBERON_0014876 HP:0010696 biolink:PhenotypicFeature Polar cataract A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. UMLS:C2025392 hp.json http://purl.obolibrary.org/obo/HP_0010696 HP:0010695 biolink:PhenotypicFeature Sutural cataract A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. UMLS:C4023734 hp.json http://purl.obolibrary.org/obo/HP_0010695 HP:0010694 biolink:PhenotypicFeature Lamellar pulverulent cataract A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance. UMLS:C4023735 hp.json http://purl.obolibrary.org/obo/HP_0010694 HP:0010693 biolink:PhenotypicFeature Pulverulent cataract A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. MSH:C563426|UMLS:C1833118 hp.json Pulverulent cataract http://purl.obolibrary.org/obo/HP_0010693 UBERON:0014871 biolink:AnatomicalEntity distal epiphysis of distal phalanx of pedal digit 1 A distal epiphysis that is part of a distal phalanx of pedal digit 1. FMA:33036 hp.json ungual tuberosity of distal phalanx of big toe|head of distal phalanx of big toe|head of distal phalanx of great toe|distal epiphysis of distal phalanx of pedal digit I|head of distal phalanx of first digit of foot|distal epiphysis of distal phalanx of big toe|distal end of distal phalanx of big toe http://purl.obolibrary.org/obo/UBERON_0014871 UBERON:0014872 biolink:AnatomicalEntity distal epiphysis of distal phalanx of pedal digit 2 A distal epiphysis that is part of a distal phalanx of pedal digit 2. FMA:33045 hp.json ungual tuberosity of distal phalanx of second toe|distal epiphysis of distal phalanx of pedal digit II|head of distal phalanx of second toe|distal end of distal phalanx of second toe|distal epiphysis of distal phalanx of second toe http://purl.obolibrary.org/obo/UBERON_0014872 HP:0010692 biolink:PhenotypicFeature 2-5 finger syndactyly Syndactyly with fusion of fingers two to five. UMLS:C4023736 hp.json Webbed 2nd-5th fingers|Webbed index, middle and pinky finger|Webbed index, middle and pinkie finger|Webbed index, middle and little finger http://purl.obolibrary.org/obo/HP_0010692 UBERON:0014873 biolink:AnatomicalEntity distal epiphysis of distal phalanx of pedal digit 3 A distal epiphysis that is part of a distal phalanx of pedal digit 3. FMA:33054 hp.json distal epiphysis of distal phalanx of third toe|distal end of distal phalanx of third toe|ungual tuberosity of distal phalanx of third toe|head of distal phalanx of third toe|distal epiphysis of distal phalanx of pedal digit III|head of distal phalanx of third digit of foot http://purl.obolibrary.org/obo/UBERON_0014873 HP:0010691 biolink:PhenotypicFeature Mirror image foot polydactyly Mirror image duplication of digits affecting the feet. UMLS:C4021238 hp.json Mirror image dupliction of toes http://purl.obolibrary.org/obo/HP_0010691 HP:0010699 biolink:PhenotypicFeature Triangular nuclear cataract A nuclear cataract with a triangular form. UMLS:C4023733 hp.json http://purl.obolibrary.org/obo/HP_0010699 HP:0007057 biolink:PhenotypicFeature Poor hand-eye coordination UMLS:C1845864 hp.json http://purl.obolibrary.org/obo/HP_0007057 HP:0007058 biolink:PhenotypicFeature Generalized cerebral atrophy/hypoplasia Generalized atrophy or hypoplasia of the cerebrum. UMLS:C4024945 hp.json Generalized cerebral degeneration/underdevelopment|Generalised cerebral degeneration/underdevelopment|Generalised cerebral atrophy/hypoplasia http://purl.obolibrary.org/obo/HP_0007058 HP:0007054 biolink:PhenotypicFeature Proximal hyperreflexia Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee). UMLS:C1836012 hp.json Hyperreflexia proximally http://purl.obolibrary.org/obo/HP_0007054 GO:0035306 biolink:BiologicalProcess positive regulation of dephosphorylation Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule. hp.json up-regulation of dephosphorylation|up regulation of dephosphorylation|activation of dephosphorylation|stimulation of dephosphorylation|upregulation of dephosphorylation http://purl.obolibrary.org/obo/GO_0035306 HP:0010607 biolink:PhenotypicFeature Hordeolum externum Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling. UMLS:C0019919|SNOMEDCT_US:1489008 hp.json http://purl.obolibrary.org/obo/HP_0010607 HP:0009606 biolink:PhenotypicFeature Complete duplication of distal phalanx of the thumb Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. UMLS:C4021427 hp.json Complete duplication of outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009606 HP:0010606 biolink:PhenotypicFeature Hordeolum An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling. SNOMEDCT_US:397513003|UMLS:C4280376|MSH:D006726|UMLS:C0019917|SNOMEDCT_US:1489008 hp.json Stye of eyelid|Red bump on eyelid http://purl.obolibrary.org/obo/HP_0010606 HP:0009609 biolink:PhenotypicFeature Duplication of the 1st metacarpal Partail or complete duplication of the first metacarpal bone. UMLS:C4021426 hp.json Partial/complete duplication of the 1st long bone of hand|Partial/complete duplication of the 1st metacarpal http://purl.obolibrary.org/obo/HP_0009609 HP:0010605 biolink:PhenotypicFeature Chalazion A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes. MSH:D017043|SNOMEDCT_US:1482004|UMLS:C0007933 hp.json Meibomian gland lipogranuloma http://purl.obolibrary.org/obo/HP_0010605 HP:0009608 biolink:PhenotypicFeature Complete duplication of proximal phalanx of the thumb Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024273 hp.json Complete duplication of the innermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009608 HP:0010604 biolink:PhenotypicFeature Cyst of the eyelid SNOMEDCT_US:301913002|SNOMEDCT_US:248514008|UMLS:C0155218|SNOMEDCT_US:46210008|UMLS:C0578590|UMLS:C0424844 hp.json Lesion of the eyelid|Eyelid bump|Eyelid mass|Cyst of the eyelid http://purl.obolibrary.org/obo/HP_0010604 HP:0010603 biolink:PhenotypicFeature Odontogenic keratocysts of the jaw A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. UMLS:C1708604 hp.json Keratocystic odontogenic tumour|Keratocysts of the jaw|Keratocystic odontogenic tumor http://purl.obolibrary.org/obo/HP_0010603 HP:0009603 biolink:PhenotypicFeature Deviation of the thumb Displacement of the thumb from its normal position. UMLS:C3552414 hp.json Abnormal thumb placement|Deviated thumb|Displacement of the thumb http://purl.obolibrary.org/obo/HP_0009603 HP:0009602 biolink:PhenotypicFeature Abnormality of thumb phalanx A structural anomaly of one or more phalanges of the thumb. UMLS:C4021428 hp.json Abnormality of the thumb bones|Abnormality of thumb phalanges http://purl.obolibrary.org/obo/HP_0009602 GO:0035303 biolink:BiologicalProcess regulation of dephosphorylation Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule. hp.json http://purl.obolibrary.org/obo/GO_0035303 HP:0010602 biolink:PhenotypicFeature Type 2 muscle fiber predominance An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). UMLS:C3277187 hp.json Type II muscle fibre predominance|Type 2 muscle fibre predominance|Type II muscle fiber predominance http://purl.obolibrary.org/obo/HP_0010602 HP:0010601 biolink:PhenotypicFeature Abnormal proximal ulnar epiphysis morphology Any abnormality of the proximal epiphysis of the ulna. UMLS:C4023772 hp.json Abnormality of the proximal ulnar epiphysis http://purl.obolibrary.org/obo/HP_0010601 GO:0035305 biolink:BiologicalProcess negative regulation of dephosphorylation Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule. hp.json down regulation of dephosphorylation|downregulation of dephosphorylation|inhibition of dephosphorylation|down-regulation of dephosphorylation http://purl.obolibrary.org/obo/GO_0035305 HP:0010600 biolink:PhenotypicFeature Abnormal distal ulnar epiphysis morphology Any abnormality of the distal epiphysis of the ulna. UMLS:C4023773 hp.json Abnormality of the distal ulnar epiphysis http://purl.obolibrary.org/obo/HP_0010600 HP:0009601 biolink:PhenotypicFeature Aplasia/Hypoplasia of the thumb Hypoplastic/small or absent thumb. MSH:C536903|UMLS:C3179508 hp.json Absent/hypoplastic thumb|Hypoplastic/absent thumb|Aplastic/hypoplastic thumbs|Absent/underdeveloped thumb|Hypoplastic to aplastic thumbs|Thumb aplasia/hypoplasia|Aplasia/hypoplasia of thumbs|Absent/hypoplastic thumbs|Absent or hypoplastic thumbs|Absent/small thumb http://purl.obolibrary.org/obo/HP_0009601 HP:0009600 biolink:PhenotypicFeature Flexion contracture of thumb Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. SNOMEDCT_US:239736003|UMLS:C0409346 hp.json Flexion deformities of thumbs|Joint contractures of the thumb|Contracture of thumb http://purl.obolibrary.org/obo/HP_0009600 HP:0010609 biolink:PhenotypicFeature Skin tags Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. SNOMEDCT_US:201091002|SNOMEDCT_US:80801001|SNOMEDCT_US:31069005|UMLS:C0037293 hp.json Acrochorda http://purl.obolibrary.org/obo/HP_0010609 HP:0010608 biolink:PhenotypicFeature Hordeolum internum Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling. UMLS:C0085690|SNOMEDCT_US:414521009|UMLS:C4280375 hp.json Red bump on inner eyelid|Stye of inner eyelid http://purl.obolibrary.org/obo/HP_0010608 HP:0009618 biolink:PhenotypicFeature Abnormality of the proximal phalanx of the thumb An anomaly of the shape or form of the proximal phalanx of the thumb. UMLS:C4021421 hp.json Abnormality of proximal thumb phalanx|Abnormal innermost thumb bone http://purl.obolibrary.org/obo/HP_0009618 HP:0009617 biolink:PhenotypicFeature Abnormality of the distal phalanx of the thumb Any anomaly of the distal phalanx of thumb. UMLS:C4021422 hp.json Abnormality of terminal thumb phalanx|Abnormality of the outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009617 HP:0009614 biolink:PhenotypicFeature Bifid proximal phalanx of the thumb This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024272 hp.json Notched thumb bone http://purl.obolibrary.org/obo/HP_0009614 HP:0009613 biolink:PhenotypicFeature Duplication of the proximal phalanx of the thumb Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4021424 hp.json Partial/complete duplication of the proximal phalanx of the thumb|Notched innermost bone of thumb http://purl.obolibrary.org/obo/HP_0009613 HP:0009616 biolink:PhenotypicFeature Bifid first metacarpal Partial duplication of the first metacarpal bone. UMLS:C4021423 hp.json Notched first long bone of hand|partial duplication of the first metacarpal http://purl.obolibrary.org/obo/HP_0009616 HP:0009615 biolink:PhenotypicFeature Complete duplication of the first metacarpal Complete duplication of the first metacarpal bone. UMLS:C4024271 hp.json Complete duplication of the first long bone of hand http://purl.obolibrary.org/obo/HP_0009615 HP:0009612 biolink:PhenotypicFeature Duplication of the distal phalanx of the thumb Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. UMLS:C4021425 hp.json Double thumb distal phalanges|Duplication of the outermost bone of the thumb|Partial/complete duplication of the distal phalanx of the thumb|Duplication of distal thumb phalanx|Duplicated terminal phalanx of thumb|Duplication of terminal thumb phalanx http://purl.obolibrary.org/obo/HP_0009612 HP:0009611 biolink:PhenotypicFeature Bifid distal phalanx of the thumb Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. UMLS:C1860162 hp.json Notched outermost bone of thumb|Bifid distal phalanx of thumb|Bifid terminal phalanges of thumbs|Bifid thumb distal phalanx|Notched outermost bone of the thumb|Incipient distal thumb phalanx duplication|Notched terminal thumb phalanx http://purl.obolibrary.org/obo/HP_0009611 GO:0001990 biolink:NamedThing regulation of systemic arterial blood pressure by hormone hp.json http://purl.obolibrary.org/obo/GO_0001990 GO:0001992 biolink:NamedThing regulation of systemic arterial blood pressure by vasopressin hp.json http://purl.obolibrary.org/obo/GO_0001992 HP:0010643 biolink:PhenotypicFeature Midnasal atresia Absence or abnormal closure of the midnasal cavity. UMLS:C4023762 hp.json http://purl.obolibrary.org/obo/HP_0010643 HP:0010641 biolink:PhenotypicFeature Abnormality of the midnasal cavity Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. UMLS:C4021861 hp.json http://purl.obolibrary.org/obo/HP_0010641 HP:0010640 biolink:PhenotypicFeature Abnormality of the nasal cavity Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). UMLS:C4023763 hp.json http://purl.obolibrary.org/obo/HP_0010640 HP:0010649 biolink:PhenotypicFeature Flat nasal alae An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). UMLS:C4023759 hp.json Flat nasal alar cartilage|Depressed nasal alae http://purl.obolibrary.org/obo/HP_0010649 HP:0010648 biolink:PhenotypicFeature Dermal translucency An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. UMLS:C1836646 hp.json Translucent skin http://purl.obolibrary.org/obo/HP_0010648 hposlim_core HP:0010647 biolink:PhenotypicFeature Abnormal elasticity of skin Any abnormal increase or reduction in skin elasticity. UMLS:C4023760 hp.json http://purl.obolibrary.org/obo/HP_0010647 HP:0010646 biolink:PhenotypicFeature Cervical spine instability An abnormal lack of stability of the cervical spine. SNOMEDCT_US:202821008|UMLS:C0410652 hp.json http://purl.obolibrary.org/obo/HP_0010646 HP:0009646 biolink:PhenotypicFeature Patchy sclerosis of the distal phalanx of the thumb An uneven increase in bone density of the distal phalanx of the thumb. UMLS:C4024258 hp.json Uneven increase in bone density in the outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009646 HP:0010645 biolink:PhenotypicFeature Aplasia of the distal phalanges of the toes Absence of the distal phalanges of the toes. UMLS:C4023761 hp.json Absent outermost bone of the toes http://purl.obolibrary.org/obo/HP_0010645 HP:0009649 biolink:PhenotypicFeature Aplasia of the distal phalanx of the thumb Absence of the distal/terminal phalanx of the thumb. UMLS:C4021416 hp.json Absent ossification/absent terminal thumb phalanx|Aplasia of the outermost bone of the thumb|Absence of the outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009649 HP:0010644 biolink:PhenotypicFeature Midnasal stenosis Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. UMLS:C1840238 hp.json Midnasal atresia or stenosis http://purl.obolibrary.org/obo/HP_0010644 HP:0009648 biolink:PhenotypicFeature Triangular shaped distal phalanx of the thumb Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. UMLS:C4024257 hp.json Triangular shaped outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009648 HP:0009643 biolink:PhenotypicFeature Bullet-shaped distal phalanx of the thumb Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected. UMLS:C4024260 hp.json Bullet-shaped outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009643 HP:0009642 biolink:PhenotypicFeature Broad distal phalanx of the thumb Increased width of the distal phalanx of thumb. UMLS:C1863402 hp.json Broad terminal thumb phalanx|Wide distal phalanx of thumb|Broad outermost bone of the thumb|Wide outermost bone of thumb http://purl.obolibrary.org/obo/HP_0009642 HP:0009645 biolink:PhenotypicFeature Osteolytic defect of the distal phalanx of the thumb Dissolution or degeneration of bone tissue of the distal phalanx of the thumb. UMLS:C4021417 hp.json Osteolytic defects of the distal phalanx of the thumb|Osteolytic defects of the outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009645 HP:0009644 biolink:PhenotypicFeature Curved distal phalanx of the thumb A deviation from the normal straight shape of the distal phalanx of the thumb. UMLS:C4024259 hp.json Curved outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0009644 GO:0001976 biolink:NamedThing nervous system process involved in regulation of systemic arterial blood pressure hp.json http://purl.obolibrary.org/obo/GO_0001976 GO:0001977 biolink:NamedThing renal system process involved in regulation of blood volume hp.json http://purl.obolibrary.org/obo/GO_0001977 HP:0009641 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanx of the thumb UMLS:C4024261 hp.json Absent/small outermost thumb bone|Absent/underdeveloped outermost thumb bone http://purl.obolibrary.org/obo/HP_0009641 HP:0009640 biolink:PhenotypicFeature Synostosis of the proximal phalanx of the thumb with the 1st metacarpal Fusion of the proximal phalanx of the thumb with the 1st metacarpal. UMLS:C4024262 hp.json Ankylosis of the metacarpophalangeal joint of the thumb|Fusion of the innermost bone of the thumb with the 1st long bone of hand http://purl.obolibrary.org/obo/HP_0009640 UBERON:0002827 biolink:AnatomicalEntity vestibulocochlear ganglion The group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia. EMAPA:16982|TAO:0000588|EHDAA:5569|EMAPA:17571|EHDAA:6653|XAO:0004142|MA:0001084|EFO:0003543|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=496|UMLS:C0037959|VHOG:0000696|EHDAA2:0002196|ZFA:0000588|BIRNLEX:2564 hp.json vestibulocochlear ganglia|acoustico-vestibular VIII ganglion|gVIII|statoacoustic ganglion|nucleus nervi oculomotorii ventrolateralis|acoustic ganglion VIII|auditory ganglion|acoustic ganglion|statoacoustic VIII ganglion|nucleus nervi oculomotorii, pars ventralis|ganglion VIII|vestibulocochlear VIII ganglion|auditory ganglion|statoacoustic ganglia|statoacoustic (VIII) ganglion|SAG http://purl.obolibrary.org/obo/UBERON_0002827 vertebrate_core|pheno_slim|efo_slim UBERON:0002824 biolink:AnatomicalEntity vestibular ganglion The ganglion of the vestibular nerve. It contains the cell bodies of the bipolar primary afferent neurons whose peripheral processes form synaptic contact with hair cells of the vestibular sensory end organs[WP,unvetted]. Distributed to the maculae of the utricle and saccule and to the ampullary crests of the semicircular ducts. The vestibular fibers arise in bipolar cells in the vestibular ganglion in the internal acoustic meatus. RETIRED_EHDAA2:0002199|UMLS:C0036286|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=495|EMAPA:17573|UMLS:C0446706|NCIT:C33870|FMA:53435|BAMS:GvVIII|MA:0001086|BIRNLEX:2549|VHOG:0000682|UMLS:C0036286 hp.json vestibulocochlear ganglion vestibular component|Scarpa's ganglion|nucleus nervi oculomotorii, pars medialis|vestibular part of vestibulocochlear ganglion|vestibulocochlear VIII ganglion vestibular component http://purl.obolibrary.org/obo/UBERON_0002824 pheno_slim|uberon_slim HP:0010632 biolink:PhenotypicFeature Total anosmia Inability to detect any qualitative olfactory sensation. UMLS:C4023768 hp.json http://purl.obolibrary.org/obo/HP_0010632 HP:0010631 biolink:PhenotypicFeature Abnormality of the epiphyses of the feet Any abnormality of the epiphyses of the feet. UMLS:C4023769 hp.json Abnormality of the end part of the foot bone http://purl.obolibrary.org/obo/HP_0010631 HP:0010630 biolink:PhenotypicFeature Abnormality of metatarsal epiphysis Any abnormality of a metatarsal bone epiphysis. UMLS:C4021248 hp.json Abnormality of the epiphyses of the metatarsals|Abnormality of end part of long bone of foot http://purl.obolibrary.org/obo/HP_0010630 HP:0010639 biolink:PhenotypicFeature Elevated alkaline phosphatase of bone origin An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. UMLS:C1833667 hp.json Elevated ALP of bone origin|Increased serum bone-specific alkaline phosphatase|Elevated alkaline phosphatase of bone origin http://purl.obolibrary.org/obo/HP_0010639 HP:0010638 biolink:PhenotypicFeature Elevated alkaline phosphatase of hepatic origin An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. UMLS:C4023764 hp.json Elevated ALP of hepatic origin http://purl.obolibrary.org/obo/HP_0010638 HP:0010637 biolink:PhenotypicFeature Conjunctival amyloidosis A form of amyloidosis that affects the conjunctiva. SNOMEDCT_US:59017008|UMLS:C0268402 hp.json http://purl.obolibrary.org/obo/HP_0010637 HP:0009658 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the thumb UMLS:C4024256 hp.json Absent/underdeveloped thumb bones|Absent/small thumb bones http://purl.obolibrary.org/obo/HP_0009658 HP:0010636 biolink:PhenotypicFeature Schizencephaly The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. SNOMEDCT_US:38353004|MSH:D065707|SNOMEDCT_US:253159001|UMLS:C0266484 hp.json http://purl.obolibrary.org/obo/HP_0010636 HP:0010635 biolink:PhenotypicFeature Partial hyposmia Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). UMLS:C4023765 hp.json http://purl.obolibrary.org/obo/HP_0010635 HP:0009657 biolink:PhenotypicFeature Triangular shaped thumb phalanx Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle. UMLS:C4021412 hp.json Triangular thumb phalanges|Triangular shaped phalanges of the thumb|Triangular shaped thumb bone http://purl.obolibrary.org/obo/HP_0009657 HP:0010634 biolink:PhenotypicFeature Total hyposmia Reduced ability to detect any qualitative olfactory sensation. UMLS:C4023766 hp.json http://purl.obolibrary.org/obo/HP_0010634 HP:0010633 biolink:PhenotypicFeature Partial anosmia Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). UMLS:C4023767 hp.json http://purl.obolibrary.org/obo/HP_0010633 HP:0009659 biolink:PhenotypicFeature Partial absence of thumb The absence of a phalangeal segment of a thumb. UMLS:C4020780|UMLS:C4024255 hp.json Partial absence of thumb|Aplasia of the phalanges of the thumb http://purl.obolibrary.org/obo/HP_0009659 HP:0009654 biolink:PhenotypicFeature Osteolytic defect of thumb phalanx Dissolution or degeneration of bone tissue of one or more phalanges of the thumb. UMLS:C4020905 hp.json Osteolytic defects of the phalanges of the thumb http://purl.obolibrary.org/obo/HP_0009654 HP:0009653 biolink:PhenotypicFeature Curved thumb phalanx A deviation from the normal straight shape of a thumb phalanx. UMLS:C4021414 hp.json Curved phalanges of the thumb|Curved thumb bone http://purl.obolibrary.org/obo/HP_0009653 HP:0009656 biolink:PhenotypicFeature Symphalangism of the thumb Congenital fusion (ankylosis) of the interphalangeal joint of the thumb. UMLS:C1834032 hp.json Fused thumb bones|Symphalangism of the distal and proximal phalanges of the thumb|Fused thumb phalanges http://purl.obolibrary.org/obo/HP_0009656 HP:0009655 biolink:PhenotypicFeature Patchy sclerosis of thumb phalanx An uneven increase in bone density of one or more of the phalanges of the thumb. UMLS:C4021413 hp.json Uneven increase in bone density in thumb bone|Patchy sclerosis of the phalanges of the thumb http://purl.obolibrary.org/obo/HP_0009655 HP:0009650 biolink:PhenotypicFeature Short distal phalanx of the thumb Hypoplastic (short) distal phalanx of the thumb. UMLS:C1862313 hp.json Small terminal thumb phalanx|Short thumb terminal phalanx|Short terminal thumb phalanx|Short outermost bone of the thumb|Hypoplastic/small distal phalanx of the thumb|Hypoplastic terminal thumb phalanx http://purl.obolibrary.org/obo/HP_0009650 HP:0009652 biolink:PhenotypicFeature Bullet-shaped thumb phalanx An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4021415 hp.json Bullet-shaped phalanges of the thumb|Bullet-shaped thumb bone http://purl.obolibrary.org/obo/HP_0009652 UBERON:0002812 biolink:AnatomicalEntity left cerebral hemisphere A cerebral hemisphere that is in the left side of a brain. SCTID:362323007|FMA:61819|NCIT:C32955|BIRNLEX:1795|UMLS:C0228176 hp.json left hemisphere http://purl.obolibrary.org/obo/UBERON_0002812 UBERON:0002811 biolink:AnatomicalEntity left frontal lobe A frontal cortex that is part of a left cerebral hemisphere. FMA:72970|UMLS:C1281955|BIRNLEX:1787 hp.json http://purl.obolibrary.org/obo/UBERON_0002811 UBERON:0002813 biolink:AnatomicalEntity right cerebral hemisphere A cerebral hemisphere that is in the right side of a brain. FMA:67292|NCIT:C33472|SCTID:362322002|UMLS:C0228175|BIRNLEX:1797|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvigx5ZwpEbGdrcN5Y29ycA hp.json right hemisphere http://purl.obolibrary.org/obo/UBERON_0002813 HP:0010621 biolink:PhenotypicFeature Cutaneous syndactyly of toes A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. UMLS:C1834737 hp.json Cutaneous syndactyly of feet|Webbed skin of toes|soft tissue syndactyly of toes http://purl.obolibrary.org/obo/HP_0010621 hposlim_core HP:0010620 biolink:PhenotypicFeature Malar prominence Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. UMLS:C4280374|UMLS:C1858732 hp.json Prominent malar region|Malar excess|Hyperplasia of malar bones|Malar hyperplasia http://purl.obolibrary.org/obo/HP_0010620 hposlim_core HP:0009629 biolink:PhenotypicFeature Aplasia/Hypoplasia of the proximal phalanx of the thumb This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024268 hp.json Absent/small innermost thumb bone|Absent/underdeveloped innermost thumb bone http://purl.obolibrary.org/obo/HP_0009629 HP:0010629 biolink:PhenotypicFeature Abnormal morphology of the cortex of the humerus Any abnormality affecting the cortex of the humerus. UMLS:C4023770 hp.json http://purl.obolibrary.org/obo/HP_0010629 HP:0010628 biolink:PhenotypicFeature Facial palsy Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. UMLS:C0376175|SNOMEDCT_US:95666008|SNOMEDCT_US:193093009|UMLS:C0427055|MSH:D020330|UMLS:C1858719|MSH:D005158 hp.json Facial muscle weakness of muscles innervated by CN VII|Facial nerve palsy|Bell's palsy|Facial nerve paralysis|Seventh cranial nerve palsy|VII th cranial nerve palsy|Facial palsy, unilateral or bilateral|Cranial nerve VII palsy http://purl.obolibrary.org/obo/HP_0010628 hposlim_core HP:0010627 biolink:PhenotypicFeature Anterior pituitary hypoplasia Underdevelopment of the anterior pituitary gland. UMLS:C1859775|UMLS:C0948740 hp.json Underdeveloped pituitary gland|Hypoplasia of the pituitary gland http://purl.obolibrary.org/obo/HP_0010627 HP:0010626 biolink:PhenotypicFeature Anterior pituitary agenesis Absence of the anterior pituitary gland resulting from a developmental defect. UMLS:C4021249 hp.json Absent pituitary gland|Aplasia of the pituitary gland http://purl.obolibrary.org/obo/HP_0010626 HP:0010625 biolink:PhenotypicFeature Anterior pituitary dysgenesis Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. SNOMEDCT_US:62818001|UMLS:C0032008|UMLS:C4023771|MSH:D010903 hp.json Adenohypophysis http://purl.obolibrary.org/obo/HP_0010625 HP:0009625 biolink:PhenotypicFeature Contractures of the metacarpophalangeal joint of the thumb Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis. UMLS:C2108151 hp.json http://purl.obolibrary.org/obo/HP_0009625 HP:0010624 biolink:PhenotypicFeature Aplastic/hypoplastic toenail Absence or underdevelopment of the toenail. UMLS:C1856749 hp.json Aplastic/hypoplastic toenails|Absent/underdeveloped toenails|Hypoplastic-absent toenails|Absent/small toenails http://purl.obolibrary.org/obo/HP_0010624 HP:0009624 biolink:PhenotypicFeature Contractures of the carpometacarpal joint of the thumb Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint. UMLS:C4024269 hp.json http://purl.obolibrary.org/obo/HP_0009624 HP:0010622 biolink:PhenotypicFeature Neoplasm of the skeletal system A tumor (abnormal growth of tissue) of the skeleton. NCIT:C3262|UMLS:C2732838|UMLS:C4020771|SNOMEDCT_US:442868003 hp.json Neoplasia of the skeletal system|Skeletal tumor|Bone neoplasm|Skeletal tumour http://purl.obolibrary.org/obo/HP_0010622 HP:0009626 biolink:PhenotypicFeature Contractures of the interphalangeal joint of the thumb Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. UMLS:C2108146 hp.json Interphalangeal extension contractures of thumbs http://purl.obolibrary.org/obo/HP_0009626 GO:0001958 biolink:BiologicalProcess endochondral ossification Replacement ossification wherein bone tissue replaces cartilage. Wikipedia:Endochondral_ossification hp.json http://purl.obolibrary.org/obo/GO_0001958 HP:0009621 biolink:PhenotypicFeature obsolete Ulnar deviation of the thumb hp.json http://purl.obolibrary.org/obo/HP_0009621 GO:0001959 biolink:BiologicalProcess regulation of cytokine-mediated signaling pathway Any process that modulates the frequency, rate or extent of the cytokine mediated signaling pathway. hp.json regulation of cytokine mediated signalling pathway|regulation of cytokine and chemokine mediated signaling pathway|regulation of cytokine mediated signaling pathway http://purl.obolibrary.org/obo/GO_0001959 HP:0009620 biolink:PhenotypicFeature obsolete Radial deviation of the thumb hp.json http://purl.obolibrary.org/obo/HP_0009620 HP:0009623 biolink:PhenotypicFeature Proximal placement of thumb Proximal mislocalization of the thumb. UMLS:C1865572 hp.json Proximally placed thumbs|Low implantation of the thumb|Attachment of thumb close to wrist|Low-set thumb http://purl.obolibrary.org/obo/HP_0009623 hposlim_core HP:0009622 biolink:PhenotypicFeature Distally placed thumb Insertion of thumb at a more distal location than normal. UMLS:C4024270 hp.json http://purl.obolibrary.org/obo/HP_0009622 GO:0001955 biolink:BiologicalProcess blood vessel maturation A developmental process, independent of morphogenetic (shape) change, that is required for a blood vessel to attain its fully functional state. hp.json http://purl.obolibrary.org/obo/GO_0001955 GO:0001957 biolink:BiologicalProcess intramembranous ossification Direct ossification that occurs within mesenchyme or an accumulation of relatively unspecialized cells. Wikipedia:Intramembranous_ossification hp.json dermal ossification|intramembranous bone ossification http://purl.obolibrary.org/obo/GO_0001957 UBERON:0002805 biolink:AnatomicalEntity right limbic lobe A limbic lobe that is part of a right cerebral hemisphere. BIRNLEX:1781|FMA:72980 hp.json http://purl.obolibrary.org/obo/UBERON_0002805 GO:0001961 biolink:BiologicalProcess positive regulation of cytokine-mediated signaling pathway Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway. hp.json positive regulation of cytokine mediated signalling pathway|up-regulation of cytokine mediated signaling pathway|positive regulation of cytokine and chemokine mediated signaling pathway|up regulation of cytokine mediated signaling pathway|activation of cytokine mediated signaling pathway|stimulation of cytokine mediated signaling pathway|upregulation of cytokine mediated signaling pathway|positive regulation of cytokine mediated signaling pathway http://purl.obolibrary.org/obo/GO_0001961 UBERON:0002804 biolink:AnatomicalEntity left limbic lobe A limbic lobe that is part of a left cerebral hemisphere. BIRNLEX:1780|FMA:72981 hp.json http://purl.obolibrary.org/obo/UBERON_0002804 GO:0001964 biolink:BiologicalProcess startle response An action or movement due to the application of a sudden unexpected stimulus. Wikipedia:Startle_reaction hp.json http://purl.obolibrary.org/obo/GO_0001964 UBERON:0002803 biolink:AnatomicalEntity right parietal lobe Parietal lobe of the right hemisphere of the brain. BIRNLEX:1729|FMA:72973|UMLS:C1281959 hp.json http://purl.obolibrary.org/obo/UBERON_0002803 GO:0001960 biolink:BiologicalProcess negative regulation of cytokine-mediated signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway. hp.json down regulation of cytokine mediated signaling pathway|negative regulation of cytokine mediated signaling pathway|inhibition of cytokine mediated signaling pathway|downregulation of cytokine mediated signaling pathway|negative regulation of cytokine and chemokine mediated signaling pathway|down-regulation of cytokine mediated signaling pathway|negative regulation of cytokine mediated signalling pathway http://purl.obolibrary.org/obo/GO_0001960 UBERON:0002802 biolink:AnatomicalEntity left parietal lobe Parietal lobe of the left hemisphere of the brain. FMA:72974|BIRNLEX:1728|UMLS:C1281960 hp.json http://purl.obolibrary.org/obo/UBERON_0002802 HP:0010610 biolink:PhenotypicFeature Palmar pits UMLS:C0423776|SNOMEDCT_US:247449001 hp.json http://purl.obolibrary.org/obo/HP_0010610 CHEBI:25481 biolink:ChemicalSubstance naphthoquinone A polycyclic aromatic ketone metabolite of naphthalene. hp.json naphthoquinones http://purl.obolibrary.org/obo/CHEBI_25481 3_STAR UBERON:0002809 biolink:AnatomicalEntity right temporal lobe A temporal lobe that is part of a right cerebral hemisphere. BIRNLEX:1785|UMLS:C1281970|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rwQLi-ZwpEbGdrcN5Y29ycA|FMA:72971 hp.json http://purl.obolibrary.org/obo/UBERON_0002809 UBERON:0002808 biolink:AnatomicalEntity left temporal lobe A temporal lobe that is part of a left cerebral hemisphere. UMLS:C1281971|BIRNLEX:1784|FMA:72972|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rwQLi-ZwpEbGdrcN5Y29ycA hp.json http://purl.obolibrary.org/obo/UBERON_0002808 HP:0010618 biolink:PhenotypicFeature Ovarian fibroma The presence of a fibroma of the ovary. UMLS:C0149951|MSH:C562391|NCIT:C3041|SNOMEDCT_US:254865006 hp.json http://purl.obolibrary.org/obo/HP_0010618 HP:0010617 biolink:PhenotypicFeature Cardiac fibroma A fibroma of the heart. NCIT:C3041|UMLS:C1096654 hp.json http://purl.obolibrary.org/obo/HP_0010617 HP:0010616 biolink:PhenotypicFeature Lung fibroma The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule. NCIT:C3041|SNOMEDCT_US:707387004|UMLS:C1334444 hp.json http://purl.obolibrary.org/obo/HP_0010616 HP:0010615 biolink:PhenotypicFeature Angiofibromas Angiofibroma consist of many often dilated vessels. MSH:D018322|SNOMEDCT_US:302857002|SNOMEDCT_US:60392001|UMLS:C0206731|NCIT:C3799 hp.json http://purl.obolibrary.org/obo/HP_0010615 HP:0009636 biolink:PhenotypicFeature Triangular shaped proximal phalanx of the thumb Triangular shaped proximal phalanx of the thumb. UMLS:C4021419 hp.json Triangular innermost thumb bone|Triangular proximal thumb phalanx http://purl.obolibrary.org/obo/HP_0009636 HP:0010614 biolink:PhenotypicFeature Fibroma Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. MSH:D005350|SNOMEDCT_US:112682009|UMLS:C0016045|NCIT:C3041|SNOMEDCT_US:424568000 hp.json http://purl.obolibrary.org/obo/HP_0010614 HP:0009635 biolink:PhenotypicFeature Synostosis of thumb phalanx Fusion of a phalanx of the thumb with another bone. UMLS:C4024263 hp.json Fusion of thumb bone http://purl.obolibrary.org/obo/HP_0009635 HP:0009638 biolink:PhenotypicFeature Short proximal phalanx of thumb Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C1855091 hp.json Short proximal thumb phalanx|Short proximal phalanges of thumb|Short proximal thumb bone|Hypoplastic/small proximal phalanx of the thumb http://purl.obolibrary.org/obo/HP_0009638 HP:0010612 biolink:PhenotypicFeature Plantar pits The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. UMLS:C1852301 hp.json http://purl.obolibrary.org/obo/HP_0010612 HP:0009637 biolink:PhenotypicFeature Absent proximal phalanx of thumb Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4021418 hp.json Aplasia of the proximal phalanx of the thumb|Absent ossification/absent proximal thumb phalanx|Absent innermost thumb bone http://purl.obolibrary.org/obo/HP_0009637 HP:0009632 biolink:PhenotypicFeature Curved proximal phalanx of the thumb A deviation from the normal straight shape of the proximal phalanx of the thumb. UMLS:C4024265 hp.json Curved innermost thumb bone http://purl.obolibrary.org/obo/HP_0009632 HP:0009631 biolink:PhenotypicFeature Bullet-shaped proximal phalanx of the thumb Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected. UMLS:C4024266 hp.json Bullet-shaped innermost thumb bone http://purl.obolibrary.org/obo/HP_0009631 HP:0009634 biolink:PhenotypicFeature Patchy sclerosis of the proximal phalanx of the thumb An uneven increase in bone density of the proximal phalanx of the thumb. UMLS:C4024264 hp.json Uneven increase in bone density in the innermost thumb bone http://purl.obolibrary.org/obo/HP_0009634 UBERON:0002810 biolink:AnatomicalEntity right frontal lobe A frontal cortex that is part of a right cerebral hemisphere. UMLS:C1281954|BIRNLEX:1786|FMA:72969 hp.json http://purl.obolibrary.org/obo/UBERON_0002810 HP:0009633 biolink:PhenotypicFeature Osteolytic defect of the proximal phalanx of the thumb Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb. UMLS:C4021420 hp.json Osteolytic defects of the proximal phalanx of the thumb http://purl.obolibrary.org/obo/HP_0009633 HP:0009630 biolink:PhenotypicFeature Broad proximal phalanx of the thumb Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024267 hp.json Broad innermost thumb bone http://purl.obolibrary.org/obo/HP_0009630 HP:0010619 biolink:PhenotypicFeature Fibroadenoma of the breast A benign biphasic tumor of the breast with epithelial and stromal components. UMLS:C0178421|SNOMEDCT_US:254845004|NCIT:C3744 hp.json Fibroadenosis - breast|Breast fibroadenomas|Breast fibroadenosis|Breast fibroadenoma|Fibroadenosis of breast http://purl.obolibrary.org/obo/HP_0010619 GO:0098840 biolink:BiologicalProcess protein transport along microtubule The directed movement of a protein along a microtubule, mediated by motor proteins. hp.json microtubule-based protein transport http://purl.obolibrary.org/obo/GO_0098840 CL:0002548 biolink:Cell fibroblast of cardiac tissue A fibroblast that is part of the heart. hp.json cardiac fibroblast http://purl.obolibrary.org/obo/CL_0002548 CL:0002547 biolink:Cell fibroblast of the aortic adventitia A fibroblast of the aortic adventitia. hp.json http://purl.obolibrary.org/obo/CL_0002547 GO:1902652 biolink:BiologicalProcess secondary alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. hp.json secondary alcohol metabolism http://purl.obolibrary.org/obo/GO_1902652 GO:0060231 biolink:BiologicalProcess mesenchymal to epithelial transition A transition where a mesenchymal cell establishes apical/basolateral polarity, forms intercellular adhesive junctions, synthesizes basement membrane components and becomes an epithelial cell. hp.json mesenchymal-epithelial transition|epithelial cell differentiation from mesenchymal cell http://purl.obolibrary.org/obo/GO_0060231 CL:0002540 biolink:Cell mesenchymal stem cell of the bone marrow A mesenchymal stem cell that is part of the bone marrow. hp.json http://purl.obolibrary.org/obo/CL_0002540 GO:0035265 biolink:BiologicalProcess organ growth The increase in size or mass of an organ. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that function together as to perform a specific function. hp.json http://purl.obolibrary.org/obo/GO_0035265 CL:0002541 biolink:Cell chorionic membrane mesenchymal stem cell A mesenchymal stem cell of the chorionic membrane. hp.json http://purl.obolibrary.org/obo/CL_0002541 CL:0002543 biolink:Cell vein endothelial cell An endothelial cell that is part of the vein. KUPO:0001099|FMA:62104 hp.json venous endothelial cell|endothelial cell of vein http://purl.obolibrary.org/obo/CL_0002543 CL:0002546 biolink:Cell embryonic blood vessel endothelial progenitor cell An endothelial progenitor cell that participates in angiogenesis during development. hp.json http://purl.obolibrary.org/obo/CL_0002546 GO:0035260 biolink:BiologicalProcess internal genitalia morphogenesis The process in which the anatomical structures of the internal genitalia are generated and organized. The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals. hp.json http://purl.obolibrary.org/obo/GO_0035260 GO:0035261 biolink:BiologicalProcess external genitalia morphogenesis The process in which the anatomical structures of the external genitalia are generated and organized. The external genitalia are the outer sex organs, such as the penis or vulva in mammals. hp.json http://purl.obolibrary.org/obo/GO_0035261 GO:0035262 biolink:BiologicalProcess gonad morphogenesis The process in which the anatomical structures of the gonads are generated and organized. A gonad is an animal organ producing gametes, e.g. the testes or the ovary in mammals. hp.json http://purl.obolibrary.org/obo/GO_0035262 GO:0035264 biolink:BiologicalProcess multicellular organism growth The increase in size or mass of an entire multicellular organism, as opposed to cell growth. hp.json body growth http://purl.obolibrary.org/obo/GO_0035264 GO:0098852 biolink:CellularComponent lytic vacuole membrane The lipid bilayer surrounding a lytic vacuole and separating its contents from the cytoplasm of the cell. hp.json http://purl.obolibrary.org/obo/GO_0098852 GO:2001204 biolink:BiologicalProcess regulation of osteoclast development Any process that modulates the frequency, rate or extent of osteoclast development. hp.json regulation of osteoclast cell development http://purl.obolibrary.org/obo/GO_2001204 CL:0002559 biolink:Cell hair follicle cell An animal cell that is part of a hair follicle. hp.json http://purl.obolibrary.org/obo/CL_0002559 GO:2001205 biolink:BiologicalProcess negative regulation of osteoclast development Any process that stops, prevents or reduces the frequency, rate or extent of osteoclast development. hp.json negative regulation of osteoclast cell development http://purl.obolibrary.org/obo/GO_2001205 GO:2001206 biolink:BiologicalProcess positive regulation of osteoclast development Any process that activates or increases the frequency, rate or extent of osteoclast development. hp.json positive regulation of osteoclast cell development http://purl.obolibrary.org/obo/GO_2001206 CL:0002551 biolink:Cell fibroblast of dermis hp.json http://purl.obolibrary.org/obo/CL_0002551 GO:0060221 biolink:BiologicalProcess retinal rod cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a retinal rod cell. hp.json http://purl.obolibrary.org/obo/GO_0060221 CL:0002553 biolink:Cell fibroblast of lung A fibroblast that is part of lung. BTO:0000764|CALOHA:TS-0575 hp.json http://purl.obolibrary.org/obo/CL_0002553 GO:2001200 biolink:BiologicalProcess positive regulation of dendritic cell differentiation Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_2001200 CL:0002557 biolink:Cell fibroblast of pulmonary artery A fibroblast of pulmonary artery. hp.json http://purl.obolibrary.org/obo/CL_0002557 GO:0098858 biolink:NamedThing actin-based cell projection hp.json http://purl.obolibrary.org/obo/GO_0098858 GO:0072201 biolink:BiologicalProcess negative regulation of mesenchymal cell proliferation Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. hp.json http://purl.obolibrary.org/obo/GO_0072201 GO:0106214 biolink:BiologicalProcess regulation of vesicle fusion with Golgi apparatus Any process that modulates the frequency, rate or extent of vesicle fusion with Golgi apparatus. hp.json http://purl.obolibrary.org/obo/GO_0106214 GO:1900015 biolink:BiologicalProcess regulation of cytokine production involved in inflammatory response Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response. hp.json regulation of cytokine production involved in acute inflammatory response http://purl.obolibrary.org/obo/GO_1900015 GO:1902679 biolink:BiologicalProcess negative regulation of RNA biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of RNA biosynthetic process. hp.json inhibition of RNA biosynthetic process|inhibition of RNA biosynthesis|negative regulation of RNA biosynthesis|down-regulation of RNA biosynthesis|down regulation of RNA formation|down-regulation of RNA biosynthetic process|inhibition of RNA synthesis|downregulation of RNA synthesis|inhibition of RNA formation|downregulation of RNA formation|down-regulation of RNA anabolism|negative regulation of RNA anabolism|downregulation of RNA biosynthesis|downregulation of RNA biosynthetic process|down regulation of RNA anabolism|down-regulation of RNA synthesis|negative regulation of RNA synthesis|down regulation of RNA biosynthesis|down regulation of RNA biosynthetic process|down-regulation of RNA formation|inhibition of RNA anabolism|downregulation of RNA anabolism|negative regulation of RNA formation|down regulation of RNA synthesis http://purl.obolibrary.org/obo/GO_1902679 GO:1900017 biolink:BiologicalProcess positive regulation of cytokine production involved in inflammatory response Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. hp.json up regulation of cytokine production involved in acute inflammatory response|positive regulation of cytokine production involved in acute inflammatory response|up regulation of cytokine production involved in inflammatory response http://purl.obolibrary.org/obo/GO_1900017 GO:0106216 biolink:BiologicalProcess positive regulation of vesicle fusion with Golgi apparatus Any process that activates or increases the frequency, rate or extent of vesicle fusion with Golgi apparatus. hp.json http://purl.obolibrary.org/obo/GO_0106216 GO:1900016 biolink:BiologicalProcess negative regulation of cytokine production involved in inflammatory response Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. hp.json negative regulation of cytokine production involved in acute inflammatory response|down regulation of cytokine production involved in inflammatory response|down regulation of cytokine production involved in acute inflammatory response http://purl.obolibrary.org/obo/GO_1900016 GO:0106215 biolink:BiologicalProcess negative regulation of vesicle fusion with Golgi apparatus Any process that stops, prevents or reduces the frequency, rate or extent of vesicle fustion with Golgi apparatus. hp.json http://purl.obolibrary.org/obo/GO_0106215 GO:0060251 biolink:BiologicalProcess regulation of glial cell proliferation Any process that modulates the frequency, rate or extent of glial cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_0060251 GO:0060252 biolink:BiologicalProcess positive regulation of glial cell proliferation Any process that activates or increases the rate or extent of glial cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_0060252 GO:0060253 biolink:BiologicalProcess negative regulation of glial cell proliferation Any process that stops or decreases the rate or extent of glial cell proliferation. hp.json http://purl.obolibrary.org/obo/GO_0060253 GO:0060255 biolink:BiologicalProcess regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. hp.json http://purl.obolibrary.org/obo/GO_0060255 GO:1902680 biolink:BiologicalProcess positive regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. hp.json upregulation of RNA anabolism|up regulation of RNA biosynthesis|up regulation of RNA biosynthetic process|activation of RNA synthesis|positive regulation of RNA synthesis|up regulation of RNA formation|up-regulation of RNA biosynthesis|up-regulation of RNA biosynthetic process|activation of RNA formation|positive regulation of RNA formation|upregulation of RNA synthesis|activation of RNA biosynthesis|activation of RNA biosynthetic process|upregulation of RNA formation|up-regulation of RNA anabolism|up regulation of RNA anabolism|upregulation of RNA biosynthesis|upregulation of RNA biosynthetic process|up-regulation of RNA synthesis|activation of RNA anabolism|positive regulation of RNA anabolism|up regulation of RNA synthesis|up-regulation of RNA formation|positive regulation of RNA biosynthesis http://purl.obolibrary.org/obo/GO_1902680 CL:0002521 biolink:Cell subcutaneous fat cell A fat cell that is part of subcutaneous adipose tissue. hp.json subcutaneous adipocyte http://purl.obolibrary.org/obo/CL_0002521 GO:2001212 biolink:BiologicalProcess regulation of vasculogenesis Any process that modulates the frequency, rate or extent of vasculogenesis. hp.json regulation of vascular morphogenesis http://purl.obolibrary.org/obo/GO_2001212 GO:0060259 biolink:BiologicalProcess regulation of feeding behavior Any process that modulates the rate, frequency or extent of the behavior associated with the intake of food. hp.json regulation of feeding behaviour http://purl.obolibrary.org/obo/GO_0060259 GO:2001213 biolink:BiologicalProcess negative regulation of vasculogenesis Any process that stops, prevents or reduces the frequency, rate or extent of vasculogenesis. hp.json negative regulation of vascular morphogenesis http://purl.obolibrary.org/obo/GO_2001213 GO:2001214 biolink:BiologicalProcess positive regulation of vasculogenesis Any process that activates or increases the frequency, rate or extent of vasculogenesis. hp.json positive regulation of vascular morphogenesis http://purl.obolibrary.org/obo/GO_2001214 GO:0035240 biolink:MolecularActivity dopamine binding Binding to dopamine, a catecholamine neurotransmitter formed by aromatic-L-amino-acid decarboxylase from 3,4-dihydroxy-L-phenylalanine. hp.json http://purl.obolibrary.org/obo/GO_0035240 CL:0002539 biolink:Cell aortic smooth muscle cell A smooth muscle cell of the aorta. BTO:0004577 hp.json http://purl.obolibrary.org/obo/CL_0002539 GO:1902685 biolink:BiologicalProcess positive regulation of receptor localization to synapse Any process that activates or increases the frequency, rate or extent of receptor localization to synapse. hp.json up regulation of receptor localization to synapse|upregulation of receptor localisation to synapse|activation of receptor localization to synapse|up-regulation of receptor localization to synapse|positive regulation of receptor localisation to synapse|up regulation of receptor localisation to synapse|up-regulation of receptor localisation to synapse|upregulation of receptor localization to synapse|activation of receptor localisation to synapse http://purl.obolibrary.org/obo/GO_1902685 GO:1902683 biolink:BiologicalProcess regulation of receptor localization to synapse Any process that modulates the frequency, rate or extent of receptor localization to synapse. hp.json regulation of receptor localisation to synapse http://purl.obolibrary.org/obo/GO_1902683 GO:1902684 biolink:BiologicalProcess negative regulation of receptor localization to synapse Any process that stops, prevents or reduces the frequency, rate or extent of receptor localization to synapse. hp.json down regulation of receptor localisation to synapse|inhibition of receptor localisation to synapse|down-regulation of receptor localisation to synapse|negative regulation of receptor localisation to synapse|downregulation of receptor localization to synapse|down regulation of receptor localization to synapse|inhibition of receptor localization to synapse|down-regulation of receptor localization to synapse|downregulation of receptor localisation to synapse http://purl.obolibrary.org/obo/GO_1902684 GO:1902692 biolink:BiologicalProcess regulation of neuroblast proliferation Any process that modulates the frequency, rate or extent of neuroblast proliferation. hp.json http://purl.obolibrary.org/obo/GO_1902692 GO:0035234 biolink:BiologicalProcess ectopic germ cell programmed cell death Programmed cell death of an errant germ line cell that is outside the normal migratory path or ectopic to the gonad. This is an important mechanism of regulating germ cell survival within the embryo. hp.json programmed cell death, ectopic germ cells|programmed cell death of ectopic germ cells http://purl.obolibrary.org/obo/GO_0035234 GO:2001222 biolink:BiologicalProcess regulation of neuron migration Any process that modulates the frequency, rate or extent of neuron migration. hp.json regulation of neuronal migration|regulation of neuron chemotaxis|regulation of neuron guidance http://purl.obolibrary.org/obo/GO_2001222 GO:2001223 biolink:BiologicalProcess negative regulation of neuron migration Any process that stops, prevents or reduces the frequency, rate or extent of neuron migration. hp.json negative regulation of neuron chemotaxis|negative regulation of neuron guidance|negative regulation of neuronal migration http://purl.obolibrary.org/obo/GO_2001223 GO:2001224 biolink:BiologicalProcess positive regulation of neuron migration Any process that activates or increases the frequency, rate or extent of neuron migration. hp.json positive regulation of neuron guidance|positive regulation of neuronal migration|positive regulation of neuron chemotaxis http://purl.obolibrary.org/obo/GO_2001224 GO:0060249 biolink:BiologicalProcess anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. hp.json anatomical structure maintenance http://purl.obolibrary.org/obo/GO_0060249 GO:0035239 biolink:BiologicalProcess tube morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. hp.json http://purl.obolibrary.org/obo/GO_0035239 UBERON:0036291 biolink:AnatomicalEntity myocardium of anterior wall of right ventricle FMA:260877 hp.json http://purl.obolibrary.org/obo/UBERON_0036291 UBERON:0036290 biolink:AnatomicalEntity myocardium of anterior wall of left ventricle FMA:87177 hp.json http://purl.obolibrary.org/obo/UBERON_0036290 UBERON:0036293 biolink:AnatomicalEntity oral frenulum A small fold of mucous membrane in the mouth, connecting either the tongue or the lip to the mouth mucosa. hp.json oral frenum|oral frenula|frenulum|oral frenulum http://purl.obolibrary.org/obo/UBERON_0036293 GO:0098883 biolink:BiologicalProcess synapse pruning A cellular process that results in the controlled breakdown of synapse. After it starts the process is continuous until the synapse has disappeared. hp.json synapse clearance|synapse removal|synapse elimination|synapse disassembly http://purl.obolibrary.org/obo/GO_0098883 goslim_synapse UBERON:0036295 biolink:AnatomicalEntity renal pelvis/ureter The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. NCIT:C54419 hp.json renal pelvis and ureter|renal pelvis plus ureter http://purl.obolibrary.org/obo/UBERON_0036295 UBERON:0036294 biolink:AnatomicalEntity mucosa of lip A mucosa that is part of a lip region [Automatically generated definition]. NCIT:C12226 hp.json labial mucosa http://purl.obolibrary.org/obo/UBERON_0036294 CL:0002504 biolink:Cell enteric smooth muscle cell A smooth muscle cell of the intestine. hp.json intestinal smooth muscle cell http://purl.obolibrary.org/obo/CL_0002504 CL:0002503 biolink:Cell adventitial cell A cell of the adventitial layer of ductal structures such as the uterer, defent duct, biliary duct, etc BTO:0002441|FMA:84639 hp.json http://purl.obolibrary.org/obo/CL_0002503 GO:0060271 biolink:BiologicalProcess cilium assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. Reactome:R-HSA-5617833.2 hp.json cilium morphogenesis|cilium organization|microtubule-based flagellum assembly|cilium biogenesis|cilium formation|ciliogenesis http://purl.obolibrary.org/obo/GO_0060271 GO:1900048 biolink:BiologicalProcess positive regulation of hemostasis Any process that activates or increases the frequency, rate or extent of hemostasis. hp.json up-regulation of hemostasis|activation of hemostasis|upregulation of hemostasis|up regulation of hemostasis http://purl.obolibrary.org/obo/GO_1900048 GO:1900047 biolink:BiologicalProcess negative regulation of hemostasis Any process that stops, prevents or reduces the frequency, rate or extent of hemostasis. hp.json downregulation of hemostasis|down regulation of hemostasis|inhibition of hemostasis|down-regulation of hemostasis http://purl.obolibrary.org/obo/GO_1900047 CL:0002518 biolink:Cell kidney epithelial cell An epithelial cell of the kidney. KUPO:0001019 hp.json http://purl.obolibrary.org/obo/CL_0002518 GO:1900046 biolink:BiologicalProcess regulation of hemostasis Any process that modulates the frequency, rate or extent of hemostasis. hp.json http://purl.obolibrary.org/obo/GO_1900046 GO:0060263 biolink:BiologicalProcess regulation of respiratory burst Any process that modulates the rate frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. hp.json http://purl.obolibrary.org/obo/GO_0060263 GO:0060264 biolink:BiologicalProcess regulation of respiratory burst involved in inflammatory response Any process that modulates the rate, frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases made as a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. hp.json regulation of respiratory burst involved in acute inflammatory response http://purl.obolibrary.org/obo/GO_0060264 GO:0060265 biolink:BiologicalProcess positive regulation of respiratory burst involved in inflammatory response Any process that increases the rate, frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases made as a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. hp.json positive regulation of respiratory burst involved in acute inflammatory response http://purl.obolibrary.org/obo/GO_0060265 GO:0060266 biolink:BiologicalProcess negative regulation of respiratory burst involved in inflammatory response Any process that decreases the rate, frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases made as a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. hp.json negative regulation of respiratory burst involved in acute inflammatory response http://purl.obolibrary.org/obo/GO_0060266 GO:0060267 biolink:BiologicalProcess positive regulation of respiratory burst Any process that increases the rate frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. hp.json http://purl.obolibrary.org/obo/GO_0060267 GO:0060268 biolink:BiologicalProcess negative regulation of respiratory burst Any process that decreases the rate frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. hp.json http://purl.obolibrary.org/obo/GO_0060268 GO:0060294 biolink:BiologicalProcess cilium movement involved in cell motility Movement of cilia mediated by motor proteins that contributes to the movement of a cell. hp.json http://purl.obolibrary.org/obo/GO_0060294 GO:0060295 biolink:BiologicalProcess regulation of cilium movement involved in cell motility Any process that modulates the rate frequency or extent of cilium movement involved in ciliary motility. hp.json http://purl.obolibrary.org/obo/GO_0060295 GO:0060297 biolink:BiologicalProcess regulation of sarcomere organization Any process that modulates the rate, frequency or extent of myofibril assembly by organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. hp.json regulation of sarcomere organisation http://purl.obolibrary.org/obo/GO_0060297 GO:0060298 biolink:BiologicalProcess positive regulation of sarcomere organization Any process that increases the rate, frequency or extent of myofibril assembly by organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. hp.json positive regulation of sarcomere organisation http://purl.obolibrary.org/obo/GO_0060298 GO:0060299 biolink:BiologicalProcess negative regulation of sarcomere organization Any process that decreases the rate, frequency or extent of myofibril assembly by organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. hp.json negative regulation of sarcomere organisation http://purl.obolibrary.org/obo/GO_0060299 GO:0098868 biolink:BiologicalProcess bone growth The increase in size or mass of a bone that contributes to the shaping of that bone. hp.json http://purl.obolibrary.org/obo/GO_0098868 GO:0098867 biolink:BiologicalProcess intramembranous bone growth The increase in size or mass of an intramembranous bone that contributes to the shaping of the bone. hp.json http://purl.obolibrary.org/obo/GO_0098867 GO:0098871 biolink:CellularComponent postsynaptic actin cytoskeleton The actin cytoskeleton that is part of a postsynapse. hp.json http://purl.obolibrary.org/obo/GO_0098871 goslim_synapse GO:0060281 biolink:BiologicalProcess regulation of oocyte development Any process that modulates the rate or extent of the process whose specific outcome is the progression of an oocyte over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. hp.json http://purl.obolibrary.org/obo/GO_0060281 GO:0060282 biolink:BiologicalProcess positive regulation of oocyte development Any process that increases the rate or extent of the process whose specific outcome is the progression of an oocyte over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. hp.json http://purl.obolibrary.org/obo/GO_0060282 GO:0060283 biolink:BiologicalProcess negative regulation of oocyte development Any process that decreases the rate or extent of the process whose specific outcome is the progression of an oocyte over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. hp.json http://purl.obolibrary.org/obo/GO_0060283 GO:0060284 biolink:BiologicalProcess regulation of cell development Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. hp.json http://purl.obolibrary.org/obo/GO_0060284 GO:0060285 biolink:BiologicalProcess cilium-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. hp.json microtubule-based flagellar cell motility|ciliary cell motility|cilium cell motility http://purl.obolibrary.org/obo/GO_0060285 GO:1900073 biolink:BiologicalProcess regulation of neuromuscular synaptic transmission Any process that modulates the frequency, rate or extent of neuromuscular synaptic transmission. hp.json http://purl.obolibrary.org/obo/GO_1900073 GO:1900075 biolink:BiologicalProcess positive regulation of neuromuscular synaptic transmission Any process that activates or increases the frequency, rate or extent of neuromuscular synaptic transmission. hp.json up regulation of neuromuscular synaptic transmission|upregulation of neuromuscular synaptic transmission|activation of neuromuscular synaptic transmission|up-regulation of neuromuscular synaptic transmission http://purl.obolibrary.org/obo/GO_1900075 GO:1900074 biolink:BiologicalProcess negative regulation of neuromuscular synaptic transmission Any process that stops, prevents or reduces the frequency, rate or extent of neuromuscular synaptic transmission. hp.json inhibition of neuromuscular synaptic transmission|down-regulation of neuromuscular synaptic transmission|down regulation of neuromuscular synaptic transmission|downregulation of neuromuscular synaptic transmission http://purl.obolibrary.org/obo/GO_1900074 GO:0098876 biolink:BiologicalProcess vesicle-mediated transport to the plasma membrane The directed movement of substances to the plasma membrane in transport vesicles that fuse with the plasma membrane by exocytosis. hp.json http://purl.obolibrary.org/obo/GO_0098876 UBERON:0012283 biolink:AnatomicalEntity femoral fat pad Encapsulated adipose tissue associated with the femur. hp.json femoral fat depot http://purl.obolibrary.org/obo/UBERON_0012283 UBERON:0036253 biolink:AnatomicalEntity orifice of skull FMA:53133 hp.json skull orifice|cranial orifice http://purl.obolibrary.org/obo/UBERON_0036253 GO:0050820 biolink:BiologicalProcess positive regulation of coagulation Any process that activates or increases the frequency, rate or extent of coagulation. hp.json upregulation of coagulation|up-regulation of coagulation|positive regulation of clotting|up regulation of coagulation|activation of coagulation|stimulation of coagulation http://purl.obolibrary.org/obo/GO_0050820 UBERON:0012282 biolink:AnatomicalEntity mammary fat pad Encapsulated adipose tissue associated with the mammary gland. EMAPA:37901 hp.json http://purl.obolibrary.org/obo/UBERON_0012282 pheno_slim UBERON:0012288 biolink:AnatomicalEntity centroquartal bone A tarsal bone that is formed from the fusion of the central and 4th tarsal bones. hp.json os naviculocuboideum|os centroquartale http://purl.obolibrary.org/obo/UBERON_0012288 UBERON:0012287 biolink:AnatomicalEntity Rathkes pouch epithelium An epithelial sac that is part of a Rathke's pouch. EHDAA2:0001473|EMAPA:25036 hp.json http://purl.obolibrary.org/obo/UBERON_0012287 UBERON:0012289 biolink:AnatomicalEntity fused tarsal bones 2 and 3 A tarsal bone that is formed from the fusion of the 2nd and 3rd tarsal bones. hp.json fused tarsals 2 and 3|tarsals 2+3|os tarsale II et III|os cuneiforme intermediolaterale http://purl.obolibrary.org/obo/UBERON_0012289 CHEBI:74345 biolink:ChemicalSubstance 1-(5-hydroxy-2-oxo-2,3-dihydroimidazol-4-yl)urea An imidazolidinone that is imidazolin-2-one substituted at positions 4 and 5 by hydroxy and ureido groups respectively. PMID:20826786 hp.json allantoin, enol-form|2-oxo-4-hydroxy-5-ureidoimidazoline|1-(5-hydroxy-2-oxo-2,3-dihydro-1H-imidazol-4-yl)urea http://purl.obolibrary.org/obo/CHEBI_74345 3_STAR UBERON:0036262 biolink:AnatomicalEntity uterine ligament Any of the eight ligaments pertaining to the uterus including the anterior, posterior, lateral, sacro-uterine and round ligaments. NCIT:C61360 hp.json http://purl.obolibrary.org/obo/UBERON_0036262 UBERON:0036264 biolink:AnatomicalEntity zygomaticotemporal nerve The zygomaticotemporal nerve or zygomaticotemporal branch (temporal branch) is derived from the maxillary branch of the trigeminal nerve (Cranial nerve V). It runs along the lateral wall of the orbit in a groove in the zygomatic bone, receives a branch of communication from the lacrimal, and passes through zygomaticotemporal foramen in the zygomatic bone to enter the temporal fossa. It ascends between the bone, and substance of the Temporalis muscle, pierces the temporal fascia about 2.5 cm. above the zygomatic arch, and is distributed to the skin of the side of the forehead, and communicates with the facial nerve and with the auriculotemporal branch of the mandibular nerve. As it pierces the temporal fascia, it gives off a slender twig, which runs between the two layers of the fascia to the lateral angle of the orbit. SCTID:280243001|Wikipedia:Zygomaticotemporal_nerve|FMA:52972 hp.json ramus zygomaticotemporalis (Nervus zygomaticus)|zygomaticotemporal branch|ramus zygomaticotemporalis nervus zygomatici|zygomaticotemporal|zygomaticotemporal branch|zygomaticotemporal branch of zygomatic nerve|zygomaticotemporal http://purl.obolibrary.org/obo/UBERON_0036264 GO:0050832 biolink:BiologicalProcess defense response to fungus Reactions triggered in response to the presence of a fungus that act to protect the cell or organism. hp.json defence response to fungus|defence response to fungi|defense response to fungi|response to parasitic fungus|response to parasitic fungi|resistance response to pathogenic fungi|defense response to fungus, incompatible interaction|resistance response to pathogenic fungus http://purl.obolibrary.org/obo/GO_0050832 UBERON:0012276 biolink:AnatomicalEntity endometrium glandular epithelium FMA:86488|MA:0002732|EMAPA:35308 hp.json glandular part of endometrium|uterine glands set|uterine glands http://purl.obolibrary.org/obo/UBERON_0012276 human_reference_atlas UBERON:0012275 biolink:AnatomicalEntity meso-epithelium Epithelium that derives from the mesoderm. [Automatically generated definition]. FMA:86452 hp.json mesoderm-derived epithelium|mesoepithelium http://purl.obolibrary.org/obo/UBERON_0012275 UBERON:0036268 biolink:AnatomicalEntity pelvic vein SCTID:13152008 hp.json http://purl.obolibrary.org/obo/UBERON_0036268 UBERON:0012274 biolink:AnatomicalEntity columnar epithelium An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]. Wikipedia:Columnar_epithelium hp.json http://purl.obolibrary.org/obo/UBERON_0012274 UBERON:0036267 biolink:AnatomicalEntity vulval vein hp.json http://purl.obolibrary.org/obo/UBERON_0036267 UBERON:0036269 biolink:AnatomicalEntity penis blood vessel EMAPA:30807 hp.json vasculature of penis|penis vasculature http://purl.obolibrary.org/obo/UBERON_0036269 GO:0050839 biolink:MolecularActivity cell adhesion molecule binding Binding to a cell adhesion molecule. hp.json cell adhesion receptor activity|adhesive extracellular matrix constituent|cell adhesion molecule activity|CAM binding http://purl.obolibrary.org/obo/GO_0050839 UBERON:0012278 biolink:AnatomicalEntity gland of nasal mucosa The nasal glands are the seromucous glands in the respiratory region of the nasal mucous membrane. The three major types of nasal glands are anterior serous glands, seromucous glands, and Bowman glands. EMAPA:37871|NCIT:C22725|UMLS:C1522269|FMA:321518 hp.json glandulae nasales|nasal gland|glandula nasalis http://purl.obolibrary.org/obo/UBERON_0012278 pheno_slim CHEBI:86327 biolink:ChemicalSubstance antifungal drug Any antifungal agent used to prevent or treat fungal infections in humans or animals. Wikipedia:Antifungal hp.json pharmaceutical fungicide|antifungal medication|antifungal medications|pharmaceutical fungicides|antifungal drugs|anti-fungal medications|anti-fungal drug|anti-fungal medication|anti-fungal drugs http://purl.obolibrary.org/obo/CHEBI_86327 3_STAR GO:0050840 biolink:MolecularActivity extracellular matrix binding Binding to a component of the extracellular matrix. hp.json adhesive extracellular matrix constituent|extracellular matrix constituent binding http://purl.obolibrary.org/obo/GO_0050840 goslim_pir|goslim_chembl UBERON:0012251 biolink:AnatomicalEntity ectocervical epithelium An epithelium that is part of a ectocervix. hp.json exocervical epithelium http://purl.obolibrary.org/obo/UBERON_0012251 UBERON:0012250 biolink:AnatomicalEntity cervix glandular epithelium A glandular epithelium that is part of a uterine cervix. UMLS:C1707350|NCIT:C54414 hp.json cervix columnar epithelium http://purl.obolibrary.org/obo/UBERON_0012250 human_reference_atlas UBERON:0036286 biolink:AnatomicalEntity wall of right ventricle Wall of ventricle which is continuous with the wall of pulmonary trunk. FMA:9533 hp.json right ventricular wall http://purl.obolibrary.org/obo/UBERON_0036286 UBERON:0036285 biolink:AnatomicalEntity wall of left ventricle Wall of ventricle which is continuous with the wall of aorta. FMA:9556 hp.json left ventricular wall http://purl.obolibrary.org/obo/UBERON_0036285 UBERON:0036288 biolink:AnatomicalEntity anterior wall of left ventricle FMA:9560 hp.json http://purl.obolibrary.org/obo/UBERON_0036288 UBERON:0012254 biolink:AnatomicalEntity abdominal aorta artery An artery that originates from the abdominal aorta. SCTID:281470000 hp.json abdominal artery|artery of abdomen http://purl.obolibrary.org/obo/UBERON_0012254 pheno_slim UBERON:0012253 biolink:AnatomicalEntity cervical squamo-columnar junction Region of cervical epithelium where columnar epithelium of endocervic and the stratified non-keratinising squamous epithelium of the ectocervic meet. NCIT:C97148 hp.json squamocolumnar junction of uterine cervix|squamocolumnar junction|squamo-columnar junction of uterine cervix http://purl.obolibrary.org/obo/UBERON_0012253 UBERON:0012252 biolink:AnatomicalEntity endocervical epithelium The glandular epithelium that lines the endocervix. NCIT:C96180 hp.json endocervical glandular epithelium http://purl.obolibrary.org/obo/UBERON_0012252 human_reference_atlas UBERON:0036289 biolink:AnatomicalEntity anterior wall of right ventricle Region of wall of right ventricle which is continuous with the lateral and septal walls of right ventricle. FMA:9553 hp.json http://purl.obolibrary.org/obo/UBERON_0036289 UBERON:0012249 biolink:AnatomicalEntity ectocervix The part of the cervix uteri that protrudes into the vagina and is lined with stratified squamous epithelium. UMLS:C0227829|CALOHA:TS-1098|NCIT:C12310|BTO:0001850|FMA:86484|FMA:77056 hp.json uterine ectocervix|portio vaginalis cervicis|ectocervix|portio vaginalis|ectocervix|exocervix|vaginal part of cervix http://purl.obolibrary.org/obo/UBERON_0012249 human_reference_atlas PR:P04040 biolink:Protein catalase (human) A catalase that is encoded in the genome of human. UniProtKB:P04040 hp.json CAT|hCAT http://purl.obolibrary.org/obo/PR_P04040 GO:0050863 biolink:BiologicalProcess regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell activation. hp.json regulation of T-cell activation|regulation of T-lymphocyte activation|regulation of T lymphocyte activation http://purl.obolibrary.org/obo/GO_0050863 GO:0050866 biolink:BiologicalProcess negative regulation of cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of cell activation. hp.json down-regulation of cell activation|down regulation of cell activation|inhibition of cell activation|downregulation of cell activation http://purl.obolibrary.org/obo/GO_0050866 GO:0050867 biolink:BiologicalProcess positive regulation of cell activation Any process that activates or increases the frequency, rate or extent of activation. hp.json activation of cell activation|stimulation of cell activation|upregulation of cell activation|up-regulation of cell activation|up regulation of cell activation http://purl.obolibrary.org/obo/GO_0050867 GO:0050864 biolink:BiologicalProcess regulation of B cell activation Any process that modulates the frequency, rate or extent of B cell activation. hp.json regulation of B lymphocyte activation|regulation of B-cell activation|regulation of B-lymphocyte activation http://purl.obolibrary.org/obo/GO_0050864 GO:0050865 biolink:BiologicalProcess regulation of cell activation Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. hp.json http://purl.obolibrary.org/obo/GO_0050865 GO:0050868 biolink:BiologicalProcess negative regulation of T cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation. hp.json down-regulation of T cell activation|down regulation of T cell activation|inhibition of T cell activation|downregulation of T cell activation|negative regulation of T-lymphocyte activation|negative regulation of T lymphocyte activation|negative regulation of T-cell activation http://purl.obolibrary.org/obo/GO_0050868 UBERON:0036212 biolink:AnatomicalEntity intertragic incisure A surface structure that is the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by theantitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. FMA:61175 hp.json incisura anterior auris|anterior auricular groove|sulcus auriculae anterior|incisura intertragica|intertragic incisure|incisura|intertragal incisure|auricular notch|intertragic incisure|intertragic notch http://purl.obolibrary.org/obo/UBERON_0036212 GO:0050869 biolink:BiologicalProcess negative regulation of B cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation. hp.json negative regulation of B-cell activation|down-regulation of B cell activation|down regulation of B cell activation|downregulation of B cell activation|inhibition of B cell activation|negative regulation of B-lymphocyte activation|negative regulation of B lymphocyte activation http://purl.obolibrary.org/obo/GO_0050869 UBERON:0036215 biolink:AnatomicalEntity anatomical surface region Material anatomical entity that forms the outermost boundary of an anatomical structure. ZFA:0005594|AEO:0000154|AAO:0010270 hp.json http://purl.obolibrary.org/obo/UBERON_0036215 UBERON:0036214 biolink:AnatomicalEntity rectosigmoid junction An anatomical junction that is between the sigmoid colon and rectum. NCIT:C54188|SCTID:245429006 hp.json rectosigmoid region http://purl.obolibrary.org/obo/UBERON_0036214 UBERON:0036217 biolink:AnatomicalEntity coelomic fluid A bodily fluid that is located in the coelom. BTO:0001708 hp.json http://purl.obolibrary.org/obo/UBERON_0036217 CL:0002585 biolink:Cell retinal blood vessel endothelial cell A blood vessel endothelial cell that is part of the retina. hp.json http://purl.obolibrary.org/obo/CL_0002585 GO:2001233 biolink:BiologicalProcess regulation of apoptotic signaling pathway Any process that modulates the frequency, rate or extent of apoptotic signaling pathway. hp.json regulation of apoptotic signalling pathway http://purl.obolibrary.org/obo/GO_2001233 GO:2001234 biolink:BiologicalProcess negative regulation of apoptotic signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. hp.json negative regulation of apoptotic signalling pathway http://purl.obolibrary.org/obo/GO_2001234 GO:2001235 biolink:BiologicalProcess positive regulation of apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway. hp.json positive regulation of apoptotic signalling pathway http://purl.obolibrary.org/obo/GO_2001235 CL:0002589 biolink:Cell smooth muscle cell of the brachiocephalic vasculature A smooth muscle cell of the bachiocephalic vasculature. hp.json http://purl.obolibrary.org/obo/CL_0002589 GO:0098802 biolink:CellularComponent plasma membrane signaling receptor complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. hp.json http://purl.obolibrary.org/obo/GO_0098802 gocheck_do_not_manually_annotate GO:0098803 biolink:CellularComponent respiratory chain complex Any protein complex that is part of a respiratory chain. hp.json http://purl.obolibrary.org/obo/GO_0098803 GO:0098800 biolink:CellularComponent inner mitochondrial membrane protein complex Any protein complex that is part of the inner mitochondrial membrane. hp.json http://purl.obolibrary.org/obo/GO_0098800 GO:0098801 biolink:BiologicalProcess regulation of renal system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. hp.json http://purl.obolibrary.org/obo/GO_0098801 GO:0050871 biolink:BiologicalProcess positive regulation of B cell activation Any process that activates or increases the frequency, rate or extent of B cell activation. hp.json positive regulation of B-lymphocyte activation|up-regulation of B cell activation|positive regulation of B lymphocyte activation|positive regulation of B-cell activation|up regulation of B cell activation|activation of B cell activation|stimulation of B cell activation|upregulation of B cell activation http://purl.obolibrary.org/obo/GO_0050871 GO:0050877 biolink:BiologicalProcess nervous system process A organ system process carried out by any of the organs or tissues of neurological system. hp.json neurophysiological process|neurological system process|pan-neural process http://purl.obolibrary.org/obo/GO_0050877 goslim_pir|goslim_flybase_ribbon|goslim_chembl|goslim_generic|goslim_agr GO:0050878 biolink:BiologicalProcess regulation of body fluid levels Any process that modulates the levels of body fluids. hp.json http://purl.obolibrary.org/obo/GO_0050878 goslim_pir GO:1902623 biolink:BiologicalProcess negative regulation of neutrophil migration Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration. hp.json down regulation of neutrophil migration|inhibition of neutrophil migration|down-regulation of neutrophil migration|downregulation of neutrophil migration http://purl.obolibrary.org/obo/GO_1902623 GO:1902624 biolink:BiologicalProcess positive regulation of neutrophil migration Any process that activates or increases the frequency, rate or extent of neutrophil migration. hp.json upregulation of neutrophil migration|up regulation of neutrophil migration|up-regulation of neutrophil migration|activation of neutrophil migration http://purl.obolibrary.org/obo/GO_1902624 UBERON:0036224 biolink:AnatomicalEntity corticobulbar and corticospinal tracts The corticobulbar and corticospinal tracts combined. hp.json pyramidal tract http://purl.obolibrary.org/obo/UBERON_0036224 GO:0050879 biolink:BiologicalProcess multicellular organismal movement Any physiological process involved in changing the position of a multicellular organism or an anatomical part of a multicellular organism. hp.json http://purl.obolibrary.org/obo/GO_0050879 goslim_pir GO:1902622 biolink:BiologicalProcess regulation of neutrophil migration Any process that modulates the frequency, rate or extent of neutrophil migration. hp.json http://purl.obolibrary.org/obo/GO_1902622 UBERON:0036225 biolink:AnatomicalEntity respiratory system gland Any gland that is part os the respiratory system. hp.json http://purl.obolibrary.org/obo/UBERON_0036225 CL:0002596 biolink:Cell smooth muscle cell of the carotid artery Smooth muscle cell of the carotid artery. hp.json http://purl.obolibrary.org/obo/CL_0002596 CL:0002599 biolink:Cell smooth muscle cell of the esophagus A smooth muscle cell of the esophagus. hp.json http://purl.obolibrary.org/obo/CL_0002599 GO:0035290 biolink:BiologicalProcess trunk segmentation Partitioning of the blastoderm embryo into trunk segmental units. In Drosophila, the trunk segments include thoracic segments and abdominal segments A1 to A8. hp.json http://purl.obolibrary.org/obo/GO_0035290 GO:0098813 biolink:BiologicalProcess nuclear chromosome segregation The process in which genetic material, in the form of nuclear chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. Nuclear chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. hp.json http://purl.obolibrary.org/obo/GO_0098813 CL:0002591 biolink:Cell smooth muscle cell of the pulmonary artery A smooth muscle of the pulmonary artery. BTO:0003336 hp.json http://purl.obolibrary.org/obo/CL_0002591 GO:0050870 biolink:BiologicalProcess positive regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. hp.json positive regulation of T-lymphocyte activation|up-regulation of T cell activation|positive regulation of T lymphocyte activation|positive regulation of T-cell activation|up regulation of T cell activation|activation of T cell activation|stimulation of T cell activation|upregulation of T cell activation http://purl.obolibrary.org/obo/GO_0050870 CL:0002590 biolink:Cell smooth muscle cell of the brain vasculature A vascular associated smooth muscle cell of the brain vasculature. hp.json http://purl.obolibrary.org/obo/CL_0002590 GO:0035295 biolink:BiologicalProcess tube development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. hp.json http://purl.obolibrary.org/obo/GO_0035295 GO:0050884 biolink:BiologicalProcess neuromuscular process controlling posture Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts. hp.json regulation of posture http://purl.obolibrary.org/obo/GO_0050884 GO:0050885 biolink:BiologicalProcess neuromuscular process controlling balance Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors. hp.json regulation of balance http://purl.obolibrary.org/obo/GO_0050885 GO:0050886 biolink:BiologicalProcess endocrine process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. hp.json endocrine physiology|endocrine physiological process http://purl.obolibrary.org/obo/GO_0050886 goslim_generic|goslim_pir GO:2001251 biolink:BiologicalProcess negative regulation of chromosome organization Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization. hp.json negative regulation of chromosome organization and biogenesis|negative regulation of chromosome organisation|negative regulation of nuclear genome maintenance|negative regulation of maintenance of genome integrity http://purl.obolibrary.org/obo/GO_2001251 GO:2001252 biolink:BiologicalProcess positive regulation of chromosome organization Any process that activates or increases the frequency, rate or extent of chromosome organization. hp.json positive regulation of nuclear genome maintenance|positive regulation of chromosome organisation|positive regulation of chromosome organization and biogenesis|positive regulation of maintenance of genome integrity http://purl.obolibrary.org/obo/GO_2001252 CL:0002563 biolink:Cell intestinal epithelial cell An epithelial cell of the intestine. hp.json http://purl.obolibrary.org/obo/CL_0002563 GO:0060214 biolink:BiologicalProcess endocardium formation Formation of the endocardium of the heart. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. hp.json http://purl.obolibrary.org/obo/GO_0060214 GO:0060218 biolink:BiologicalProcess hematopoietic stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a hematopoietic stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. hp.json haematopoietic stem cell differentiation|haemopoietic stem cell differentiation|hemopoietic stem cell differentiation http://purl.obolibrary.org/obo/GO_0060218 GO:0060219 biolink:BiologicalProcess camera-type eye photoreceptor cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a photoreceptor cell in a camera-type eye. hp.json http://purl.obolibrary.org/obo/GO_0060219 GO:0035282 biolink:BiologicalProcess segmentation The regionalization process that divides an organism or part of an organism into a series of semi-repetitive parts, or segments, often arranged along a longitudinal axis. Wikipedia:Segmentation_(biology) hp.json http://purl.obolibrary.org/obo/GO_0035282 GO:0050881 biolink:BiologicalProcess musculoskeletal movement The movement of an organism or part of an organism using mechanoreceptors, the nervous system, striated muscle and/or the skeletal system. hp.json http://purl.obolibrary.org/obo/GO_0050881 UBERON:0012291 biolink:AnatomicalEntity lateral malleolus of fibula Malleolus is the name for the bony prominence on each side of the ankle. FMA:35502|EMAPA:37893 hp.json fibular malleolus|malleolar bone of ankle|malleolar bone|lateral malleolus|external malleolus of fibula|distal extremity of fibula http://purl.obolibrary.org/obo/UBERON_0012291 UBERON:0012290 biolink:AnatomicalEntity fused carpal bones 2 and 3 A carpal bone that is formed from the fusion of the 2nd and 3rd distal carpal bones. hp.json carpals 2+3|fused carpals 2 and 3 http://purl.obolibrary.org/obo/UBERON_0012290 GO:0050896 biolink:BiologicalProcess response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. hp.json physiological response to stimulus http://purl.obolibrary.org/obo/GO_0050896 goslim_mouse|goslim_agr|gocheck_do_not_manually_annotate|prokaryote_subset|goslim_pir|goslim_flybase_ribbon UBERON:0036242 biolink:AnatomicalEntity post-embryonic notochord A notochord that has persisted beyond the embryonic stage. hp.json http://purl.obolibrary.org/obo/UBERON_0036242 UBERON:0012292 biolink:AnatomicalEntity embryonic cloacal fold One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly. EHDAA2:0004009 hp.json cloacal fold http://purl.obolibrary.org/obo/UBERON_0012292 UBERON:0012299 biolink:AnatomicalEntity mucosa of urethra A mucosa that is part of a urethra. FMA:76904|EMAPA:37912 hp.json tunica mucosa urethrae|urethral mucosa|mucous membrane of urethra http://purl.obolibrary.org/obo/UBERON_0012299 UBERON:0036244 biolink:AnatomicalEntity secretion of serous membrane A transudate found in the serous sac. FMA:20932 hp.json serous fluid|serous sac fluid http://purl.obolibrary.org/obo/UBERON_0036244 UBERON:0036243 biolink:AnatomicalEntity vaginal fluid Fluid that lines the vaginal walls that consists of multiple secretions that collect in the vagina from different glands. hp.json vaginal discharge|vaginal secretion http://purl.obolibrary.org/obo/UBERON_0036243 UBERON:0036246 biolink:AnatomicalEntity incudostapedial joint The small synovial joint connecting the inclus and the stapes, located between the lenticular process on the long crus of the incus and the head of the stapes. FMA:60065 hp.json articulatio incudostapedialis|incudostapedial articulation http://purl.obolibrary.org/obo/UBERON_0036246 UBERON:0036245 biolink:AnatomicalEntity parenchyma of mammary gland Parenchymal tissue that consists of the alveoli, grape-like clusters where milk is stored, and branching ducts, which are tubular canals carrying gladular secretions. hp.json mammary gland parenchyma|parenchyma of lactiferous gland|lactiferous gland parenchyma http://purl.obolibrary.org/obo/UBERON_0036245 UBERON:0036248 biolink:AnatomicalEntity joint of auditory ossicle Any synovial joint that connects auditory ossicles. FMA:60063 hp.json auditory ossicle joint|joint of auditory ossicles|auditory ossicles joint http://purl.obolibrary.org/obo/UBERON_0036248 UBERON:0036247 biolink:AnatomicalEntity incudomallear joint The saddle-shaped synovial joint connecting the incus and the malleus. FMA:60064 hp.json incudomalleolar joint|articulatio incudomallearis|incudomallear articulation http://purl.obolibrary.org/obo/UBERON_0036247 CL:0002573 biolink:Cell Schwann cell A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function. CALOHA:TS-0898|BTO:0001220 hp.json http://purl.obolibrary.org/obo/CL_0002573 CL:0002577 biolink:Cell placental epithelial cell An epithelial cell of the placenta. hp.json http://purl.obolibrary.org/obo/CL_0002577 GO:0035270 biolink:BiologicalProcess endocrine system development Progression of the endocrine system over time, from its formation to a mature structure. The endocrine system is a system of hormones and ductless glands, where the glands release hormones directly into the blood, lymph or other intercellular fluid, and the hormones circulate within the body to affect distant organs. The major glands that make up the human endocrine system are the hypothalamus, pituitary, thyroid, parathryoids, adrenals, pineal body, and the reproductive glands which include the ovaries and testes. hp.json http://purl.obolibrary.org/obo/GO_0035270 GO:0035272 biolink:BiologicalProcess exocrine system development Progression of the exocrine system over time, from its formation to a mature structure. The exocrine system is a system of hormones and glands, where the glands secrete straight to a target site via ducts or tubes. The human exocrine system includes the salivary glands, sweat glands and many glands of the digestive system. hp.json http://purl.obolibrary.org/obo/GO_0035272 GO:0050891 biolink:NamedThing multicellular organismal water homeostasis hp.json http://purl.obolibrary.org/obo/GO_0050891 GO:0050892 biolink:BiologicalProcess intestinal absorption Any process in which nutrients are taken up from the contents of the intestine. hp.json http://purl.obolibrary.org/obo/GO_0050892 GO:0050890 biolink:BiologicalProcess cognition The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory. Wikipedia:Cognition hp.json http://purl.obolibrary.org/obo/GO_0050890 goslim_drosophila CL:0002570 biolink:Cell mesenchymal stem cell of adipose tissue A mesenchymal stem cell of adipose tissue. hp.json mesenchymal stem cell of adipose http://purl.obolibrary.org/obo/CL_0002570 CHEBI:49302 biolink:ChemicalSubstance 2-hydroxy monocarboxylic acid hp.json 2-hydroxy acid|2-hydroxy monocarboxylic acids http://purl.obolibrary.org/obo/CHEBI_49302 3_STAR HP:0020127 biolink:PhenotypicFeature Periarticular soft-tissue mass A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. hp.json http://purl.obolibrary.org/obo/HP_0020127 HP:0020126 biolink:PhenotypicFeature Prostate mass A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. hp.json http://purl.obolibrary.org/obo/HP_0020126 HP:0020129 biolink:PhenotypicFeature Abnormal urine protein level Any deviation of the concentration of one or more proteins in the urine. hp.json http://purl.obolibrary.org/obo/HP_0020129 CHEBI:76924 biolink:ChemicalSubstance plant metabolite Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms. hp.json plant secondary metabolites|plant metabolites http://purl.obolibrary.org/obo/CHEBI_76924 3_STAR HP:0020128 biolink:PhenotypicFeature Aplasia of the olfactory tract Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. hp.json http://purl.obolibrary.org/obo/HP_0020128 UBERON:0012321 biolink:AnatomicalEntity deep cervical artery The deep cervical artery (Profunda cervicalis) is an artery of the neck. Wikipedia:Deep_cervical_artery|FMA:10659|SCTID:244223002 hp.json profunda cervicalis|profunda cervicalis http://purl.obolibrary.org/obo/UBERON_0012321 human_reference_atlas HP:0032112 biolink:PhenotypicFeature Abnormal Pelli Robson contrast sensitivity chart test An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast. hp.json http://purl.obolibrary.org/obo/HP_0032112 HP:0032113 biolink:PhenotypicFeature Semidominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected. hp.json Semidominant mode of inheritance http://purl.obolibrary.org/obo/HP_0032113 UBERON:0012320 biolink:AnatomicalEntity cervical artery An artery of the neck. EMAPA:37075|NCIT:C52850|UMLS:C1707349 hp.json http://purl.obolibrary.org/obo/UBERON_0012320 HP:0032114 biolink:PhenotypicFeature Saccadic intrusion An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade. hp.json http://purl.obolibrary.org/obo/HP_0032114 CHEBI:76928 biolink:ChemicalSubstance 2,3-saturated fatty acid(1-) A fatty acid anion obtained by deprotonation of the carboxy group of any 2,3-saturated fatty acid. hp.json 2,3-saturated fatty acid http://purl.obolibrary.org/obo/CHEBI_76928 3_STAR CHEBI:76929 biolink:ChemicalSubstance 2,3-saturated fatty acid Any fatty acid in which the first two carbons of the chain attached to the carboxy group are saturated and unbranched. hp.json http://purl.obolibrary.org/obo/CHEBI_76929 3_STAR UBERON:0012324 biolink:AnatomicalEntity transverse cervical artery The transverse cervical artery (transverse artery of neck, transversa colli artery) is a branch of the thyrocervical trunk, running at a higher level than the suprascapular artery. MA:0001936|FMA:10664 hp.json cervical artery|transversalis colli artery|cervical artery|transverse cervical|descending branch of the transverse cervical|transverse cervical vessels|transversalis artery colli|cervical transverse artery http://purl.obolibrary.org/obo/UBERON_0012324 human_reference_atlas HP:0032110 biolink:PhenotypicFeature Severely reduced contrast sensitivity A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss. hp.json http://purl.obolibrary.org/obo/HP_0032110 HP:0032111 biolink:PhenotypicFeature Abnormal Vistech contrast sensitivity test An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test. hp.json http://purl.obolibrary.org/obo/HP_0032111 UBERON:0012318 biolink:AnatomicalEntity anterior ethmoidal artery The anterior ethmoidal artery, also anterior ethmoid artery is an artery of the head. Once branching from the ophthalmic artery, it accompanies the nasociliary nerve through the anterior ethmoidal canal to supply the anterior and middle ethmoidal cells, frontal sinus, and anterosuperior aspect of the lateral nasal wall[WP]. FMA:49986 hp.json anterior meningeal artery|anterior meningeal arteries|arteria ethmoidalis anterior|anterior ethmoid artery|a. ethmoidalis anterior http://purl.obolibrary.org/obo/UBERON_0012318 human_reference_atlas UBERON:0012317 biolink:AnatomicalEntity vagina orifice The median slit located inferior and posterior to the external urethral orifice in the female; the exit for menstrual flow and birth and the entrance for the penis during sexual intercourse; the size and appearance of the vaginal orifice varies inversely with that of the hymen (G. membrane), a thin fold of mucous membrane that surrounds the vaginal orifice. EMAPA:37983|FMA:19984 hp.json orifice of vagina|introitus of vagina|vagina opening|opening of vagina|introitus|introitus|vaginal orifice|vaginal introitus|ostium vaginae http://purl.obolibrary.org/obo/UBERON_0012317 pheno_slim HP:0032116 biolink:PhenotypicFeature Macrosquare-wave jerks Horizontal 10-40 degree excursions from fixation and back again. hp.json http://purl.obolibrary.org/obo/HP_0032116 HP:0007149 biolink:PhenotypicFeature Distal upper limb amyotrophy Muscular atrophy of distal arm muscles. UMLS:C4021581 hp.json Distal upper limb muscle atrophy http://purl.obolibrary.org/obo/HP_0007149 HP:0032117 biolink:PhenotypicFeature obsolete Macrosaccadic oscillation hp.json http://purl.obolibrary.org/obo/HP_0032117 HP:0032118 biolink:PhenotypicFeature Retinitis Inflammation of the retina of the eye. hp.json http://purl.obolibrary.org/obo/HP_0032118 UBERON:0012319 biolink:AnatomicalEntity posterior ethmoidal artery The posterior ethmoidal artery is an artery of the head. It is smaller than the anterior ethmoidal artery, branches off from the ophthalmic artery when it reaches the medial wall of the orbit. FMA:49989 hp.json a. ethmoidalis posterior|posterior ethmoidal vessel|arteria ethmoidalis posterior http://purl.obolibrary.org/obo/UBERON_0012319 human_reference_atlas HP:0032119 biolink:PhenotypicFeature Narrow angle glaucoma A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle. hp.json http://purl.obolibrary.org/obo/HP_0032119 HP:0020123 biolink:PhenotypicFeature Tympanosclerosis A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear. hp.json Tympanic calcification http://purl.obolibrary.org/obo/HP_0020123 UBERON:0000344 biolink:AnatomicalEntity mucosa A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP]. EV:0100382|AEO:0000199|galen:Mucosa|EHDAA2_RETIRED:0003234|OpenCyc:Mx4rvmKNOpwpEbGdrcN5Y29ycA|Wikipedia:Mucous_membrane|SCTID:361693009|GAID:297|CALOHA:TS-2031|BTO:0000886|FMA:85358|UMLS:C0026724|MESH:D009092|FMA:85355|NCIT:C13166 hp.json mucosal region|region of mucosa|mucosa of organ|tunica mucosa|tunica mucosa|organ mucosa|mucous membrane|tunica mucosa|mucosa of organ part http://purl.obolibrary.org/obo/UBERON_0000344 pheno_slim HP:0020122 biolink:PhenotypicFeature Bite cells Red blood cells that appear to have parts of them bitten away. hp.json Blister cells|Degmacytes http://purl.obolibrary.org/obo/HP_0020122 HP:0007146 biolink:PhenotypicFeature Bilateral basal ganglia lesions UMLS:C4024932 hp.json http://purl.obolibrary.org/obo/HP_0007146 HP:0020125 biolink:PhenotypicFeature Spontaneous conjunctival filtering bleb Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma. hp.json Spontaneous filtering bleb|Conjunctival avascular cysts (filtering blebs) http://purl.obolibrary.org/obo/HP_0020125 UBERON:0000345 biolink:AnatomicalEntity myelin A dielectric (electrically insulating) material consisting of protein and fat that forms a layer, the myelin sheath, usually around only the axon of a neuron. Myelin is about 40 % water; the dry mass of myelin is about 70 - 85 % lipids and about 15 - 30 % proteins. Some of the proteins that make up myelin are myelin basic protein (MBP), myelin oligodendrocyte glycoprotein (MOG), and proteolipid protein (PLP). The primary lipid of myelin is a glycolipid called galactocerebroside (GalC). The intertwining hydrocarbon chains of sphingomyelin serve to strengthen the myelin sheath. FMA:62977|ncithesaurus:Myelin|BTO:0000894 hp.json http://purl.obolibrary.org/obo/UBERON_0000345 pheno_slim HP:0007141 biolink:PhenotypicFeature Sensorimotor neuropathy UMLS:C1112256 hp.json Sensorimotor peripheral neuropathy|Mixed polyneuropathy|Nerve damage causing decreased feeling and movement http://purl.obolibrary.org/obo/HP_0007141 HP:0020121 biolink:PhenotypicFeature Conception by assisted reproductive technology A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. hp.json http://purl.obolibrary.org/obo/HP_0020121 HP:0020120 biolink:PhenotypicFeature Retinal nerve fiber edema Swelling (edema) of the retinal nerve fibers. hp.json Retinal nerve fibre oedema http://purl.obolibrary.org/obo/HP_0020120 HP:0020119 biolink:PhenotypicFeature Abnormal retinal nerve fiber layer morphology A structural abnormality of the retinal nerve fiber layer hp.json Abnormal retinal nerve fibre layer morphology http://purl.obolibrary.org/obo/HP_0020119 CHEBI:25345 biolink:ChemicalSubstance methyltetrahydrofolate A group of heterocyclic compounds based on the N-methylated 5,6,7,8-tetrahydropteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units. hp.json methyltetrahydrofolates http://purl.obolibrary.org/obo/CHEBI_25345 3_STAR CHEBI:76932 biolink:ChemicalSubstance pathway inhibitor An enzyme inhibitor that interferes with one or more steps in a metabolic pathway. hp.json pathway inhibitors|metabolic pathway inhibitors|metabolic pathway inhibitor http://purl.obolibrary.org/obo/CHEBI_76932 3_STAR HP:0007162 biolink:PhenotypicFeature Diffuse demyelination of the cerebral white matter A diffuse loss of myelin from nerve fibers in the central nervous system. UMLS:C4024930 hp.json http://purl.obolibrary.org/obo/HP_0007162 UBERON:0002988 biolink:AnatomicalEntity first dorsal interosseous of manus FMA:37424 hp.json abductor indicis|first dorsal interosseous muscle of hand|first dorsal interosseous of hand http://purl.obolibrary.org/obo/UBERON_0002988 pheno_slim UBERON:0000325 biolink:AnatomicalEntity gastric gland The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. EMAPA:27181|FMA:14919|BTO:0000503 hp.json http://purl.obolibrary.org/obo/UBERON_0000325 pheno_slim|organ_slim UBERON:0000326 biolink:AnatomicalEntity pancreatic juice Pancreatic juice is slightly alkaline and contains numerous enzymes and inactive enzyme precursors including alpha-amylase, chymotrypsinogen, lipase, procarboxypeptidase, proelastase, prophospholipase A2, ribonuclease, and trypsinogen. Its high concentration of bicarbonate ions helps to neutralize the acid from the stomach. GAID:1166|CALOHA:TS-2235|BTO:0000504|MESH:D010189|FMA:62973 hp.json pancreatic secretion|succus pancreaticus|pancreatic fluid http://purl.obolibrary.org/obo/UBERON_0000326 HP:0020118 biolink:PhenotypicFeature Radial artery aplasia Congenital absence of the radial artery. hp.json http://purl.obolibrary.org/obo/HP_0020118 HP:0020117 biolink:PhenotypicFeature Hypoplastic dermoepidermal hemidesmosomes Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. hp.json http://purl.obolibrary.org/obo/HP_0020117 UBERON:0000328 biolink:AnatomicalEntity gut wall The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). FMA:45653|BTO:0000547 hp.json wall of digestive tract|wall of gut|digestive tract wall|wall of alimentary tract http://purl.obolibrary.org/obo/UBERON_0000328 HP:0010797 biolink:PhenotypicFeature Hemangioblastoma A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter. SNOMEDCT_US:81201000|MSH:D018325|UMLS:C0206734|NCIT:C3801 hp.json Haemangioblastoma http://purl.obolibrary.org/obo/HP_0010797 HP:0032123 biolink:PhenotypicFeature Ultra-low vision Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590). hp.json http://purl.obolibrary.org/obo/HP_0032123 HP:0032124 biolink:PhenotypicFeature Abnormal proportion of unswitched memory B cells A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells. hp.json Abnormal proportion of non-class-switched memory B cells http://purl.obolibrary.org/obo/HP_0032124 HP:0010796 biolink:PhenotypicFeature Brainstem glioma A glioma affecting the brainstem. SNOMEDCT_US:444545003|UMLS:C0677865 hp.json http://purl.obolibrary.org/obo/HP_0010796 HP:0010795 biolink:PhenotypicFeature Cerebellar glioma A glioma affecting the cerebellum. UMLS:C4023700 hp.json http://purl.obolibrary.org/obo/HP_0010795 HP:0032125 biolink:PhenotypicFeature Increased proportion of unswitched memory B cells An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells. hp.json Increased proportion of non-class-switched memory B cells|Elevated proportion of unswitched memory B cells http://purl.obolibrary.org/obo/HP_0032125 UBERON:0036301 biolink:AnatomicalEntity vasculature of spleen FMA:225251 hp.json http://purl.obolibrary.org/obo/UBERON_0036301 HP:0032126 biolink:PhenotypicFeature Decreased proportion of unswitched memory B cells A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells. hp.json Reduced proportion of unswitched memory B cells|Decreased proportion of non-class-switched memory B cells http://purl.obolibrary.org/obo/HP_0032126 HP:0010794 biolink:PhenotypicFeature Impaired visuospatial constructive cognition Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). UMLS:C4023701 hp.json http://purl.obolibrary.org/obo/HP_0010794 HP:0010793 biolink:PhenotypicFeature Bifid nail A digit with two nails, with at least some soft tissue between them. SNOMEDCT_US:110992006|UMLS:C0544857 hp.json duplicated nail|Notched nail http://purl.obolibrary.org/obo/HP_0010793 hposlim_core UBERON:0012314 biolink:AnatomicalEntity embryonic facial prominence One of five swellings formed during the development of the face. SCTID:89066004|FMA:293103 hp.json primordium of face|facial primordium|embryonic facial process http://purl.obolibrary.org/obo/UBERON_0012314 UBERON:0036303 biolink:AnatomicalEntity vasculature of central nervous system FMA:259905 hp.json http://purl.obolibrary.org/obo/UBERON_0036303 UBERON:0012313 biolink:AnatomicalEntity 1st arch maxillary ectoderm EMAPA:16389|EHDAA2:0000039 hp.json ectoderm of maxillary component http://purl.obolibrary.org/obo/UBERON_0012313 UBERON:0036302 biolink:AnatomicalEntity vasculature of central nervous system plus retina hp.json http://purl.obolibrary.org/obo/UBERON_0036302 HP:0032120 biolink:PhenotypicFeature Abnormal peripheral nervous system physiology Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. hp.json http://purl.obolibrary.org/obo/HP_0032120 UBERON:0012312 biolink:AnatomicalEntity maxillary process ectoderm EMAPA:17637|FMA:312685|EHDAA2:0004599 hp.json http://purl.obolibrary.org/obo/UBERON_0012312 HP:0032121 biolink:PhenotypicFeature Froment sign An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint. hp.json Froment thumb sign http://purl.obolibrary.org/obo/HP_0032121 HP:0010791 biolink:PhenotypicFeature Hyperplasia of the Leydig cells Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. SNOMEDCT_US:76085008|UMLS:C0023600 hp.json http://purl.obolibrary.org/obo/HP_0010791 HP:0010790 biolink:PhenotypicFeature Hyoplasia of the Leydig cells Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. UMLS:C4023702 hp.json http://purl.obolibrary.org/obo/HP_0010790 HP:0032122 biolink:PhenotypicFeature Very low visual acuity A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). hp.json http://purl.obolibrary.org/obo/HP_0032122 UBERON:0036304 biolink:AnatomicalEntity anatomical border An anatomical structure that is located along the line dividing two regions of an anatomical structure. hp.json http://purl.obolibrary.org/obo/UBERON_0036304 CHEBI:15999 biolink:ChemicalSubstance 4-hydroxyphenylpyruvic acid A 2-oxo monocarboxylic acid that is pyruvic acid in which one of the methyl hydrogens is substituted by a 4-hydroxyphenyl group. CAS:156-39-8|HMDB:HMDB0000707|CAS:156-39-8|Wikipedia:4-Hydroxyphenylpyruvic_acid|Beilstein:2691632|Reaxys:2691632|CAS:156-39-8|PDBeChem:ENO|KNApSAcK:C00007512|KEGG:C01179|PMID:11073718|DrugBank:DB07718|PMID:9106023|MetaCyc:P-HYDROXY-PHENYLPYRUVATE hp.json 3-(4-hydroxyphenyl)-2-oxopropanoic acid|(4-hydroxyphenyl)pyruvic acid|3-(4-HYDROXY-PHENYL)PYRUVIC ACID|(p-hydroxyphenyl)pyruvic acid|4-hydroxyphenylpyruvic acid|3-(p-hydroxyphenyl)-2-oxopropanoic acid|p-Hydroxyphenylpyruvic acid|4-hydroxy alpha-oxobenzenepropanoic acid|3-(4-hydroxyphenyl)pyruvic acid http://purl.obolibrary.org/obo/CHEBI_15999 3_STAR HP:0032127 biolink:PhenotypicFeature Abnormal plasmablast proportion A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination. hp.json http://purl.obolibrary.org/obo/HP_0032127 HP:0032128 biolink:PhenotypicFeature Increased proportion of plasmablasts An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells. hp.json http://purl.obolibrary.org/obo/HP_0032128 HP:0010799 biolink:PhenotypicFeature Pinealoma A neoplasm of the pineal gland. MSH:D010871|NCIT:C3328|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|SNOMEDCT_US:127026004|UMLS:C0031941 hp.json http://purl.obolibrary.org/obo/HP_0010799 HP:0032129 biolink:PhenotypicFeature Decreased proportion of plasmablasts A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells. hp.json http://purl.obolibrary.org/obo/HP_0032129 HP:0010798 biolink:PhenotypicFeature Lip freckle Increased focal pigmentation of the vermilion of the lips. UMLS:C0406814|SNOMEDCT_US:239136007 hp.json Labial lentigo|Ephelis of lip|Lip lentigo|Lip freckle http://purl.obolibrary.org/obo/HP_0010798 hposlim_core HP:0020112 biolink:PhenotypicFeature Increased proportion of CD4+CD25+ regulatory T cells An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. hp.json Elevated proportion of CD4+CD25+ regulatory T cells|Increased proportion of CD4+CD25+ Treg cells http://purl.obolibrary.org/obo/HP_0020112 UBERON:0000332 biolink:AnatomicalEntity yellow bone marrow Bone marrow in which the fat cells predominate in the meshes of the reticular network. FMA:74596|SCTID:328639002|SCTID:5023006|BTO:0000635 hp.json fat marrow|yellow marrow|medulla ossium flava http://purl.obolibrary.org/obo/UBERON_0000332 HP:0007156 biolink:PhenotypicFeature Asymmetric limb muscle stiffness Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern. UMLS:C4024931 hp.json http://purl.obolibrary.org/obo/HP_0007156 UBERON:0000333 biolink:AnatomicalEntity intestinal gland A gland that is part of the intestinal mucosa. Examples include the intestinal crypts, duodenal gland[cjm]. BTO:0000640|FMA:15052|SCTID:266297002 hp.json gland of mucosa of organ of intestine|bowel mucous membrane gland|gland of organ mucosa of intestine|gland of intestine mucosa|gland of intestine mucosa of organ|mucosa of organ of bowel gland|gland of mucosa of intestine|bowel mucosa gland|gland of intestine organ mucosa|glandulae intestinales|gland of mucous membrane of bowel|bowel organ mucosa gland|mucous membrane of intestine gland|organ mucosa of intestine gland|intestine mucosa of organ gland|glandula intestinalis|gland of intestinal mucosa|mucosa of intestine gland|gland of intestine mucous membrane|intestinal mucosa gland|gland of mucosa of organ of bowel|mucosa of organ of intestine gland|gland of bowel mucosa|intestine mucous membrane gland|gland of bowel mucosa of organ|gland of organ mucosa of bowel|gland of mucosa of bowel|gland of bowel organ mucosa|intestine mucosa gland|intestine organ mucosa gland|gland of mucous membrane of intestine|mucous membrane of bowel gland|bowel mucosa of organ gland|organ mucosa of bowel gland|mucosa of bowel gland|gland of bowel mucous membrane http://purl.obolibrary.org/obo/UBERON_0000333 organ_slim HP:0020111 biolink:PhenotypicFeature Abnormal CD4+CD25+ regulatory T cell proportion A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. hp.json Abnormal CD4+CD25+ Treg cell proportion http://purl.obolibrary.org/obo/HP_0020111 HP:0020114 biolink:PhenotypicFeature Persistent human papillomavirus infection Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. hp.json http://purl.obolibrary.org/obo/HP_0020114 HP:0007158 biolink:PhenotypicFeature Progressive extrapyramidal muscular rigidity A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). UMLS:C4021580 hp.json Progressive extrapyramidal rigidity http://purl.obolibrary.org/obo/HP_0007158 HP:0020113 biolink:PhenotypicFeature Decreased proportion of CD4+CD25+ regulatory T cells An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. hp.json Decreased proportion of CD4+CD25+ Treg cells|Reduced proportion of CD4+CD25+ regulatory T cells http://purl.obolibrary.org/obo/HP_0020113 HP:0007159 biolink:PhenotypicFeature Fluctuations in consciousness UMLS:C1851959 hp.json http://purl.obolibrary.org/obo/HP_0007159 HP:0007153 biolink:PhenotypicFeature Progressive extrapyramidal movement disorder UMLS:C2748610 hp.json http://purl.obolibrary.org/obo/HP_0007153 HP:0020110 biolink:PhenotypicFeature Bone fracture A partial or complete breakage of the continuity of a bone. hp.json http://purl.obolibrary.org/obo/HP_0020110 UBERON:0000331 biolink:AnatomicalEntity ileal mucosa A mucosa that is part of a ileum [Automatically generated definition]. EMAPA:35424|BTO:0000619|MA:0003216|CALOHA:TS-0470|FMA:14956 hp.json ileum mucosa|ileum mucosa of organ|organ mucosa of ileum|mucous membrane of ileum|mucosa of ileum|ileum mucous membrane|mucosa of organ of ileum|ileal mucous membrane|ileum mucosa|ileum organ mucosa http://purl.obolibrary.org/obo/UBERON_0000331 human_reference_atlas HP:0020108 biolink:PhenotypicFeature Unusual parasitic infection An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite. hp.json http://purl.obolibrary.org/obo/HP_0020108 HP:0009791 biolink:PhenotypicFeature Bifid sacrum Presence of a bifid sacral bone. UMLS:C4024204 hp.json http://purl.obolibrary.org/obo/HP_0009791 HP:0009790 biolink:PhenotypicFeature Hemisacrum A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5. UMLS:C2677632 hp.json http://purl.obolibrary.org/obo/HP_0009790 HP:0020105 biolink:PhenotypicFeature Severe toxoplasmosis Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). hp.json http://purl.obolibrary.org/obo/HP_0020105 UBERON:0000315 biolink:AnatomicalEntity subarachnoid space The space between the arachnoid and pia mater. MESH:D013346|EMAPA:32666|GAID:689|BTO:0000230|FMA:83716 hp.json spatium subarachnoideum|subarachnoid space of CNS|spatium leptomeningeum|subarachnoid space of central nervous system|spatium subarachnoideum|cavum subarachnoideale|cavitas subarachnoidea|subarachnoid cavity|subarachnoid space of neuraxis http://purl.obolibrary.org/obo/UBERON_0000315 pheno_slim HP:0020104 biolink:PhenotypicFeature Unusual protozoan infection An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent. hp.json http://purl.obolibrary.org/obo/HP_0020104 CHEBI:76946 biolink:ChemicalSubstance fungal metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. hp.json fungal metabolites http://purl.obolibrary.org/obo/CHEBI_76946 3_STAR UBERON:0000316 biolink:AnatomicalEntity cervical mucus A substance produced by the cervix and endocervical glands[BTO]. Thick acidic mucus that blocks the cervical os after mestruation[WP]. This 'infertile' mucus blocks spermatozoa from entering the uterus. MESH:D002582|BTO:0000242|FMA:83689 hp.json cervix mucus http://purl.obolibrary.org/obo/UBERON_0000316 HP:0020107 biolink:PhenotypicFeature Unusual helminthic infection An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth). hp.json http://purl.obolibrary.org/obo/HP_0020107 UBERON:0000317 biolink:AnatomicalEntity colonic mucosa Mucosa that is part of a colon. The mucosa of the colon is lined by a simple columnar epithelium with a thin brush border and numerous goblet cells. SCTID:362157008|FMA:85388|EFO:0003038|MA:0003194|FMA:14984|BTO:0000271|CALOHA:TS-0164|EMAPA:27375 hp.json colonic mucous membrane|colonic mucosa|large bowel mucosa|mucosa of colon|colon mucosa|mucosa of large bowel|colon mucous membrane http://purl.obolibrary.org/obo/UBERON_0000317 human_reference_atlas|efo_slim HP:0020106 biolink:PhenotypicFeature Severe giardiasis An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide. hp.json http://purl.obolibrary.org/obo/HP_0020106 HP:0010786 biolink:PhenotypicFeature Urinary tract neoplasm The presence of a neoplasm of the urinary system. SNOMEDCT_US:126879004|UMLS:C0042076|MSH:D014571|SNOMEDCT_US:254913005|NCIT:C3262 hp.json Urinary tract neoplasia http://purl.obolibrary.org/obo/HP_0010786 HP:0032134 biolink:PhenotypicFeature Chronic decreased circulating total IgG A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. hp.json Chronic decreased total IgG in blood http://purl.obolibrary.org/obo/HP_0032134 HP:0010785 biolink:PhenotypicFeature Gonadal neoplasm A tumor (abnormal growth of tissue) of a gonad. UMLS:C4021228|NCIT:C3262 hp.json Gonadal neoplasia http://purl.obolibrary.org/obo/HP_0010785 HP:0032135 biolink:PhenotypicFeature Decreased circulating IgG subclass level A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood. hp.json Decreased IgG subclass level in blood http://purl.obolibrary.org/obo/HP_0032135 HP:0010784 biolink:PhenotypicFeature Uterine neoplasm A tumor (abnormal growth of tissue) of the uterus. MSH:D014594|SNOMEDCT_US:126908007|NCIT:C3262|UMLS:C0042138 hp.json Uterine neoplasia|Uterine tumor|Uterine tumour|Uterine cancer http://purl.obolibrary.org/obo/HP_0010784 HP:0032136 biolink:PhenotypicFeature Decreased circulating IgG1 level A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation. hp.json Decreased IgG1 level in blood http://purl.obolibrary.org/obo/HP_0032136 HP:0032137 biolink:PhenotypicFeature Decreased circulating IgG3 level A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation. hp.json Decreased IgG3 level in blood http://purl.obolibrary.org/obo/HP_0032137 HP:0010783 biolink:PhenotypicFeature Erythema Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. SNOMEDCT_US:444827008|MSH:D004890|SNOMEDCT_US:271811009|MSH:D005483|SNOMEDCT_US:20255002|UMLS:C0041834|SNOMEDCT_US:70819003|SNOMEDCT_US:238810007|SNOMEDCT_US:247441003|UMLS:C0016382|SNOMEDCT_US:86735004 hp.json Redness of skin or mucous membrane http://purl.obolibrary.org/obo/HP_0010783 hposlim_core HP:0010782 biolink:PhenotypicFeature Shoulder dimple A subtype of skin dimples occurring in the shoulder region. UMLS:C4023704 hp.json Shoulder dimples|Acromial dimple|Bi-acromial dimples http://purl.obolibrary.org/obo/HP_0010782 HP:0032130 biolink:PhenotypicFeature Mycobacterium abscessus abscessus infection Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections. hp.json http://purl.obolibrary.org/obo/HP_0032130 HP:0010781 biolink:PhenotypicFeature Skin dimple Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. SNOMEDCT_US:301854006|UMLS:C0578531 hp.json Skin dimples http://purl.obolibrary.org/obo/HP_0010781 HP:0032131 biolink:PhenotypicFeature Cervical dysplasia Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium. hp.json http://purl.obolibrary.org/obo/HP_0032131 HP:0010780 biolink:PhenotypicFeature Hyperacusis Over-sensitivity to certain frequency ranges of sound. SNOMEDCT_US:194399009|MSH:D012001|SNOMEDCT_US:25289003|UMLS:C0034880 hp.json Sensitivity to noise|Loudness intolerance http://purl.obolibrary.org/obo/HP_0010780 hposlim_core HP:0032132 biolink:PhenotypicFeature Decreased circulating total IgG A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. hp.json http://purl.obolibrary.org/obo/HP_0032132 HP:0032133 biolink:PhenotypicFeature Transient decreased circulating total IgG A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. hp.json http://purl.obolibrary.org/obo/HP_0032133 HP:0032138 biolink:PhenotypicFeature Decreased circulating IgG4 level A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation. hp.json Decreased IgG4 level in blood http://purl.obolibrary.org/obo/HP_0032138 HP:0032139 biolink:PhenotypicFeature Reduced isohemagglutinin level Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). hp.json Partial absence of isohemagglutinins|Decreased natural antibody to blood group agents http://purl.obolibrary.org/obo/HP_0032139 HP:0010789 biolink:PhenotypicFeature Abnormality of the Leydig cells UMLS:C4023703 hp.json http://purl.obolibrary.org/obo/HP_0010789 HP:0009789 biolink:PhenotypicFeature Perianal abscess The presence of an abscess located around the anus. UMLS:C0031019|SNOMEDCT_US:82127005 hp.json http://purl.obolibrary.org/obo/HP_0009789 HP:0010788 biolink:PhenotypicFeature Testicular neoplasm The presence of a neoplasm of the testis. UMLS:C0039590|SNOMEDCT_US:126900000|NCIT:C3262|MSH:D013736 hp.json Testicular neoplasia|Testicular tumor|Testicular tumour|Testicular cancer http://purl.obolibrary.org/obo/HP_0010788 HP:0007129 biolink:PhenotypicFeature Cerebellar medulloblastoma UMLS:C4024934 hp.json http://purl.obolibrary.org/obo/HP_0007129 HP:0010787 biolink:PhenotypicFeature Genital neoplasm A tumor (abnormal growth of tissue) of the genital system. UMLS:C4020767|UMLS:C0679347|NCIT:C3262 hp.json Genital neoplasia|Genital tumor|Genital tumour http://purl.obolibrary.org/obo/HP_0010787 HP:0009786 biolink:PhenotypicFeature Aplasia/Hypoplasia of the musculature of the thigh Absence or underdevelopment involving the musculature of the thigh. UMLS:C4024207 hp.json Absent/small thigh muscles|Absent/underdeveloped thigh muscles http://purl.obolibrary.org/obo/HP_0009786 HP:0007123 biolink:PhenotypicFeature Subcortical dementia A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. UMLS:C4024935 hp.json http://purl.obolibrary.org/obo/HP_0007123 HP:0020101 biolink:PhenotypicFeature Invasive fungal infection Fungal infection characterized by invasion of host tissues. hp.json http://purl.obolibrary.org/obo/HP_0020101 HP:0009785 biolink:PhenotypicFeature Triceps aplasia Absence of the triceps muscle. UMLS:C3810484 hp.json Absent triceps http://purl.obolibrary.org/obo/HP_0009785 HP:0020100 biolink:PhenotypicFeature Unusual fungal infection An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent. hp.json http://purl.obolibrary.org/obo/HP_0020100 UBERON:0000323 biolink:AnatomicalEntity late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. EFO:0001323|MESH:D005333|FMA:63919|UMLS:C0015965|GAID:552|BTO:0000449|OpenCyc:Mx4rvZfC2ZwpEbGdrcN5Y29ycA|CALOHA:TS-0360|FBbt:00005333|NCIT:C13235 hp.json embryo late stage|fetus|embryo late growth stage http://purl.obolibrary.org/obo/UBERON_0000323 pheno_slim|efo_slim HP:0009788 biolink:PhenotypicFeature Quadriceps aplasia Absence of the quadriceps muscle. UMLS:C3805765 hp.json Absent quads http://purl.obolibrary.org/obo/HP_0009788 HP:0020103 biolink:PhenotypicFeature Invasive pulmonary aspergillosis Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis. hp.json http://purl.obolibrary.org/obo/HP_0020103 HP:0007126 biolink:PhenotypicFeature Proximal amyotrophy Amyotrophy (muscular atrophy) affecting the proximal musculature. UMLS:C1850794 hp.json Proximal muscle atrophy|Wasting of muscles near the body|Symmetrical, proximal limb muscle atrophy|Muscle atrophy, proximal|Proximal muscle wasting|Symmetric proximal muscular atrophy http://purl.obolibrary.org/obo/HP_0007126 HP:0009787 biolink:PhenotypicFeature Aplasia/Hypoplasia of the quadriceps Absence or underdevelopment of the quadriceps muscle. UMLS:C4024206 hp.json Absent/underdeveloped quadriceps|Absent/small quadriceps http://purl.obolibrary.org/obo/HP_0009787 HP:0020102 biolink:PhenotypicFeature Pneumocystis jirovecii pneumonia An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. hp.json http://purl.obolibrary.org/obo/HP_0020102 HP:0009782 biolink:PhenotypicFeature Aplasia/Hypoplasia of the biceps Absence or underdevelopment of the biceps muscle. UMLS:C4024209 hp.json Absent/small biceps|Absent/underdeveloped biceps http://purl.obolibrary.org/obo/HP_0009782 HP:0009781 biolink:PhenotypicFeature Lester's sign A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. UMLS:C4024210 hp.json http://purl.obolibrary.org/obo/HP_0009781 HP:0009784 biolink:PhenotypicFeature Aplasia/Hypoplasia of the triceps Absence or underdevelopment of the triceps muscle. UMLS:C4024208 hp.json Absent/underdeveloped triceps|Absent/small triceps http://purl.obolibrary.org/obo/HP_0009784 UBERON:0000320 biolink:AnatomicalEntity duodenal mucosa A mucosa that is part of a duodenum [Automatically generated definition]. FMA:14942|CALOHA:TS-0213|MA:0003207|EMAPA:27235|BTO:0000367 hp.json mucosa of duodenum|doudenal mucosa|mucous membrane of duodenum|duodenum mucosa|duodenal mucous membrane http://purl.obolibrary.org/obo/UBERON_0000320 human_reference_atlas HP:0009783 biolink:PhenotypicFeature Biceps aplasia Absence of the biceps muscle. UMLS:C3805764 hp.json Absent biceps http://purl.obolibrary.org/obo/HP_0009783 UBERON:0000307 biolink:AnatomicalEntity blastula Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. BTO:0000128|OpenCyc:Mx4rEetFnKP2EdqAAAACs4vPlg|BILA:0000059|Wikipedia:Blastula|GAID:1294|OGEM:000006|MESH:D036703 hp.json blastosphere|blastula embryo|blastosphere http://purl.obolibrary.org/obo/UBERON_0000307 inconsistent_with_fma CHEBI:76956 biolink:ChemicalSubstance Aspergillus metabolite Any fungal metabolite produced during a metabolic reaction in the mould, Aspergillus. hp.json Aspergillus metabolites http://purl.obolibrary.org/obo/CHEBI_76956 3_STAR UBERON:0000309 biolink:AnatomicalEntity body wall The external portion of an animal body derived from ectoderm and mesoderm layers that encloses the body cavity. galen:BodyWall|FMA:10427|BTO:0000139|EMAPA:32761 hp.json wall of trunk|wall fo trunk|trunk wall http://purl.obolibrary.org/obo/UBERON_0000309 pheno_slim HP:0032140 biolink:PhenotypicFeature Decreased specific antibody response to vaccination A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0032140 UBERON:0000303 biolink:AnatomicalEntity adductor longus An adductor muscle that attaches to the hip and femur. In humans, it is a part of the adductor group of the thigh, that as the name suggests adducts the thigh. The adductor longus muscle forms the medial wall of the femoral triangle[WP, generalized]. BTO:0000029|AAO:0010034|FMA:22441|EMAPA:36220 hp.json long adductor muscle|musculus adductor longus|musculus adductor longus|adductor longus muscle http://purl.obolibrary.org/obo/UBERON_0000303 pheno_slim UBERON:0000304 biolink:AnatomicalEntity tendon sheath A layer of membrane around a tendon. It has 2 layers: synovial sheath + fibrous tendon sheath. Wikipedia:Tendon_sheath|SCTID:361885006|UMLS:C0224856|BTO:0000051|FMA:45087|FMA:76715|NCIT:C96299 hp.json vagina tendinis|synovial tendon sheath|vagina tendinis http://purl.obolibrary.org/obo/UBERON_0000304 UBERON:0000305 biolink:AnatomicalEntity amnion The thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected. FMA:80223|EHDAA:136|MESH:D000650|NCIT:C12365|EV:0100122|VHOG:0000721|GAID:1298|EMAPA:16109|BTO:0000065|UMLS:C0002630|CALOHA:TS-0033|EHDAA2:0000116 hp.json amnios http://purl.obolibrary.org/obo/UBERON_0000305 pheno_slim HP:0010775 biolink:PhenotypicFeature Vascular ring A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. SNOMEDCT_US:110409004|UMLS:C0221214|SNOMEDCT_US:66403007|Fyler:2760 hp.json Vascular ring of aorta http://purl.obolibrary.org/obo/HP_0010775 HP:0032145 biolink:PhenotypicFeature Sural nerve atrophy Wasting of the sural nerve, a sensory nerve in the calf region of the leg. hp.json Atrophy of sural nerve http://purl.obolibrary.org/obo/HP_0032145 HP:0010774 biolink:PhenotypicFeature Cor triatriatum The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name). Fyler:3031|ICD-10:Q24.2|UMLS:C4023708 hp.json Triatrial heart http://purl.obolibrary.org/obo/HP_0010774 HP:0032146 biolink:PhenotypicFeature HbC hemoglobin Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis. hp.json HbC haemoglobin|Hemoglobin C|Haemoglobin C http://purl.obolibrary.org/obo/HP_0032146 HP:0032147 biolink:PhenotypicFeature Erythromelalgia Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. hp.json http://purl.obolibrary.org/obo/HP_0032147 HP:0010773 biolink:PhenotypicFeature Partial anomalous pulmonary venous return A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. Fyler:2030|UMLS:C0158634|SNOMEDCT_US:68237008 hp.json Partial anomalous pulmonary venous connection http://purl.obolibrary.org/obo/HP_0010773 HP:0010772 biolink:PhenotypicFeature Anomalous pulmonary venous return A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. SNOMEDCT_US:39905002|MSH:D012587|SNOMEDCT_US:111323005|UMLS:C0036400 hp.json http://purl.obolibrary.org/obo/HP_0010772 HP:0032148 biolink:PhenotypicFeature Episodic pain Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals. hp.json http://purl.obolibrary.org/obo/HP_0032148 HP:0032141 biolink:PhenotypicFeature Precordial pain A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck. hp.json http://purl.obolibrary.org/obo/HP_0032141 HP:0010771 biolink:PhenotypicFeature Pilonidal abscess A hair-containing cyst or sinus usually in the coccygeal region. UMLS:C3537055|SNOMEDCT_US:85224001 hp.json Sacrococcygeal fistula http://purl.obolibrary.org/obo/HP_0010771 HP:0032142 biolink:PhenotypicFeature Fetor hepaticus Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic. hp.json Foetor hepaticus http://purl.obolibrary.org/obo/HP_0032142 HP:0010770 biolink:PhenotypicFeature Pilonidal fistula UMLS:C0031925|SNOMEDCT_US:47639008|MSH:D010864 hp.json http://purl.obolibrary.org/obo/HP_0010770 HP:0032143 biolink:PhenotypicFeature Burning mouth An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa. hp.json http://purl.obolibrary.org/obo/HP_0032143 HP:0032144 biolink:PhenotypicFeature Coffee ground vomitus Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit. hp.json Coffee grounds emesis|Coffee grounds vomiting http://purl.obolibrary.org/obo/HP_0032144 UBERON:0014950 biolink:AnatomicalEntity layer of developing cerebral cortex hp.json http://purl.obolibrary.org/obo/UBERON_0014950 CL:1000223 biolink:Cell lung neuroendocrine cell hp.json http://purl.obolibrary.org/obo/CL_1000223 CL:1000222 biolink:Cell stomach neuroendocrine cell hp.json http://purl.obolibrary.org/obo/CL_1000222 HP:0010779 biolink:PhenotypicFeature Large pelvis bone The presence of an abnormally large pelvis. UMLS:C4072882|UMLS:C4019074 hp.json Large pelvis|Large pelvis bone http://purl.obolibrary.org/obo/HP_0010779 hposlim_core HP:0032149 biolink:PhenotypicFeature Breakthrough pain A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain. hp.json http://purl.obolibrary.org/obo/HP_0032149 HP:0010778 biolink:PhenotypicFeature Tracheomegaly Marked widening of the trachea. UMLS:C4023705 hp.json http://purl.obolibrary.org/obo/HP_0010778 HP:0010777 biolink:PhenotypicFeature Bronchomegaly Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection. UMLS:C4023706 hp.json http://purl.obolibrary.org/obo/HP_0010777 HP:0010776 biolink:PhenotypicFeature Tracheobronchmegaly Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection. UMLS:C4023707 hp.json http://purl.obolibrary.org/obo/HP_0010776 UBERON:0000310 biolink:AnatomicalEntity breast The upper ventral region of the torso of an organism. CALOHA:TS-2083|GAID:33|OpenCyc:Mx4rvVjV7ZwpEbGdrcN5Y29ycA|UMLS:C0006141|FMA:9601|galen:Breast|MESH:D001940|EV:0100124|NCIT:C12971|BTO:0000149 hp.json mammary region|mamma|mammary part of chest http://purl.obolibrary.org/obo/UBERON_0000310 pheno_slim HP:0009797 biolink:PhenotypicFeature Cholesteatoma Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. SNOMEDCT_US:363668000|UMLS:C0008373|MSH:D002781|SNOMEDCT_US:575006 hp.json http://purl.obolibrary.org/obo/HP_0009797 HP:0009796 biolink:PhenotypicFeature Branchial cyst A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. UMLS:C0006131|SNOMEDCT_US:42362005|SNOMEDCT_US:59857007|MSH:D001935 hp.json Branchial cleft cyst|Branchial cysts http://purl.obolibrary.org/obo/HP_0009796 UBERON:0000311 biolink:AnatomicalEntity extensor muscle A skeletal muscle whose contraction extends or stretches a body part. FMA:75000|BTO:0000151 hp.json extensor http://purl.obolibrary.org/obo/UBERON_0000311 pheno_slim HP:0009799 biolink:PhenotypicFeature Supernumerary spleens The presence of two or more accessory spleens. SNOMEDCT_US:10362008|UMLS:C0266631 hp.json Extra spleen http://purl.obolibrary.org/obo/HP_0009799 HP:0009798 biolink:PhenotypicFeature Euthyroid goiter A goiter that is not associated with functional thyroid abnormalities. SNOMEDCT_US:32251000119106|MSH:C562732|UMLS:C0302859 hp.json Euthyroid goitre http://purl.obolibrary.org/obo/HP_0009798 UBERON:0000313 biolink:AnatomicalEntity portion of cartilage tissue in tibia Cartilage pertaining to the tibia. BTO:0000207|FMA:33923 hp.json tibial cartilage|cartilage of tibia http://purl.obolibrary.org/obo/UBERON_0000313 HP:0009793 biolink:PhenotypicFeature Presacral teratoma A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). UMLS:C1867782 hp.json Retrorectal teratoma|Altman type IV sacrococcygeal teratoma http://purl.obolibrary.org/obo/HP_0009793 HP:0009792 biolink:PhenotypicFeature Teratoma The presence of a teratoma. MSH:D013724|SNOMEDCT_US:55818009|NCIT:C3403|UMLS:C0039538 hp.json http://purl.obolibrary.org/obo/HP_0009792 HP:0007131 biolink:PhenotypicFeature Acute demyelinating polyneuropathy Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. UMLS:C4024933 hp.json http://purl.obolibrary.org/obo/HP_0007131 HP:0009795 biolink:PhenotypicFeature Branchial fistula A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. SNOMEDCT_US:204268008|UMLS:C0546968 hp.json Branchial cleft fistula http://purl.obolibrary.org/obo/HP_0009795 hposlim_core HP:0007132 biolink:PhenotypicFeature Pallidal degeneration Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. UMLS:C0393577|SNOMEDCT_US:230302004 hp.json http://purl.obolibrary.org/obo/HP_0007132 HP:0007133 biolink:PhenotypicFeature Progressive peripheral neuropathy UMLS:C1859178 hp.json Progressive polyneuropathy http://purl.obolibrary.org/obo/HP_0007133 HP:0009794 biolink:PhenotypicFeature Branchial anomaly Congenital developmental defect arising from the primitive branchial apparatus. UMLS:C1862066 hp.json Branchial anomalies|Abnormality of branchial apparatus|Abnormality of branchial arch|Branchial abnormality http://purl.obolibrary.org/obo/HP_0009794 hposlim_core HP:0007193 biolink:PhenotypicFeature Bilateral tonic-clonic seizure on awakening Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day). UMLS:C1847165 hp.json Generalised tonic-clonic seizures on awakening|Generalized tonic-clonic seizures on awakening|Morning generalised tonic-clonic seizures|Morning generalized tonic-clonic seizures http://purl.obolibrary.org/obo/HP_0007193 CHEBI:76967 biolink:ChemicalSubstance human xenobiotic metabolite Any human metabolite produced by metabolism of a xenobiotic compound in humans. hp.json human xenobiotic metabolites http://purl.obolibrary.org/obo/CHEBI_76967 3_STAR UBERON:0012361 biolink:AnatomicalEntity internal anal region EHDAA2:0004588 hp.json http://purl.obolibrary.org/obo/UBERON_0012361 UBERON:0012360 biolink:AnatomicalEntity bone of jaw A bone element that is part of a jaw region. SCTID:369003004|MA:0003130|EMAPA:35453 hp.json jaw bone http://purl.obolibrary.org/obo/UBERON_0012360 HP:0007190 biolink:PhenotypicFeature Neuronal loss in the cerebral cortex UMLS:C1849485 hp.json http://purl.obolibrary.org/obo/HP_0007190 CHEBI:76969 biolink:ChemicalSubstance bacterial metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. hp.json http://purl.obolibrary.org/obo/CHEBI_76969 3_STAR UBERON:0012367 biolink:AnatomicalEntity muscle layer of intestine A muscle layer that is part of an intestine. FMA:15697 hp.json intestinal muscularis propria|smooth muscle of intestine|muscularis externa of intestine http://purl.obolibrary.org/obo/UBERON_0012367 CHEBI:15966 biolink:ChemicalSubstance D-glutamic acid An optically active form of glutamic acid having D-configuration. CAS:6893-26-1|Beilstein:1723800|Reaxys:1723800|Gmelin:201189|KEGG:C00217|MetaCyc:D-GLT|CAS:6893-26-1|PDBeChem:DGL|CAS:6893-26-1|KNApSAcK:C00019577|DrugBank:DB02517|HMDB:HMDB0003339 hp.json D-Glutamic acid|(R)-2-aminopentanedioic acid|(2R)-2-aminopentanedioic acid|D-Glutaminsaeure|glutamic acid D-form|DGL|D-Glutaminic acid|D-glutamic acid|D-2-Aminoglutaric acid http://purl.obolibrary.org/obo/CHEBI_15966 3_STAR HP:0020161 biolink:PhenotypicFeature Branch retinal artery occlusion Blockage of a branch of the retinal artery. This can cause loss of a section of visual field. hp.json http://purl.obolibrary.org/obo/HP_0020161 UBERON:0000382 biolink:AnatomicalEntity apocrine sweat gland Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]. EMAPA:37426|BTO:0001458|NCIT:C32132|MESH:D001050|UMLS:C0930083|FMA:59155 hp.json glandula sudorifera apocrina http://purl.obolibrary.org/obo/UBERON_0000382 organ_slim|pheno_slim HP:0020160 biolink:PhenotypicFeature GM1-ganglioside accumulation Cellular accumulation of GM1 gangliosides. hp.json http://purl.obolibrary.org/obo/HP_0020160 UBERON:0012359 biolink:AnatomicalEntity pedal digitopodium bone A bone that is part of a the pedal digitopodium skeleton - i.e. the toes or the metatarsal skeleton. hp.json bone of hindlimb digitopodium http://purl.obolibrary.org/obo/UBERON_0012359 CHEBI:15963 biolink:ChemicalSubstance ribitol A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from ribose by reduction of the carbonyl group. It occurs naturally in the plant Adonis vernalis. PMID:23564164|PMID:17979222|PMID:25108762|PMID:24643482|PMID:15234337|HMDB:HMDB0000508|PMID:17336832|CAS:488-81-3|MetaCyc:RIBITOL|Wikipedia:Ribitol|Gmelin:82894|KEGG:C00474|PMID:16664320|CAS:488-81-3|PMID:16901854|CAS:488-81-3|Beilstein:1720524|KNApSAcK:C00001171|Reaxys:1720524 hp.json (2R,3s,4S)-pentane-1,2,3,4,5-pentol|L-ribitol|D-Ribitol|Adonitol|Ribitol|meso-ribitol|D-Adonitol|ribitol|(2R,3s,4S)-pentane-1,2,3,4,5-pentol http://purl.obolibrary.org/obo/CHEBI_15963 3_STAR HP:0020167 biolink:PhenotypicFeature Hemiretinal vein occlusion A variant of central retinal vein occlusions that involves the superior or inferior half of the retina. hp.json http://purl.obolibrary.org/obo/HP_0020167 UBERON:0000388 biolink:AnatomicalEntity epiglottis A part of the pharynx that consists of a flap of elastic cartilage tissue plus a mucous membrane covering, attached to the entrance of the larynx. The epiglottis is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink[MP,modified]. BTO:0001628|MESH:D004825|FMA:55130|UMLS:C0014540|EHDAA2:0004081|GAID:111|EMAPA:18289|NCIT:C12709|OpenCyc:Mx4rvVjxE5wpEbGdrcN5Y29ycA hp.json http://purl.obolibrary.org/obo/UBERON_0000388 pheno_slim HP:0020166 biolink:PhenotypicFeature Central retinal vein occlusion Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis. hp.json http://purl.obolibrary.org/obo/HP_0020166 UBERON:0000389 biolink:AnatomicalEntity lens cortex Tissue that surrounds the lens nucleus. MESH:D007904|SCTID:280626006|BTO:0001632|MESH:A09.371.509.225|CALOHA:TS-0542|FMA:58970 hp.json cortex of lens http://purl.obolibrary.org/obo/UBERON_0000389 human_reference_atlas HP:0020169 biolink:PhenotypicFeature Abnormal drug response An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. hp.json http://purl.obolibrary.org/obo/HP_0020169 HP:0020163 biolink:PhenotypicFeature Cilioretinal artery occlusion Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers. hp.json http://purl.obolibrary.org/obo/HP_0020163 UBERON:0000383 biolink:AnatomicalEntity musculature of body The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. FBbt:00005069|MAT:0000025|BTO:0001369|XAO:0004042|MIAA:0000025|EMAPA:35578|BTO:0001485|BILA:0000088|VSAO:0000033|MA:0002888|AAO:0000307|EFO:0000801|FMA:72954 hp.json set of all muscles|muscle system of body|musculature system|set of muscles of body|vertebrate muscular system|muscular system|muskelsystem|muscle system http://purl.obolibrary.org/obo/UBERON_0000383 pheno_slim|efo_slim HP:0007185 biolink:PhenotypicFeature Loss of consciousness MSH:D014474|SNOMEDCT_US:419045004|SNOMEDCT_US:418107008|UMLS:C0041657 hp.json Loss of consciousness|Passing out http://purl.obolibrary.org/obo/HP_0007185 HP:0020165 biolink:PhenotypicFeature Branch retinal vein occlusion Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels. hp.json http://purl.obolibrary.org/obo/HP_0020165 HP:0007187 biolink:PhenotypicFeature Focal lissencephaly A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex. UMLS:C1855230 hp.json http://purl.obolibrary.org/obo/HP_0007187 HP:0020164 biolink:PhenotypicFeature Ophthalmic artery occlusion A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs. hp.json http://purl.obolibrary.org/obo/HP_0020164 HP:0007188 biolink:PhenotypicFeature Congenital facial diplegia Facial diplegia (that is, bilateral facial palsy) with congenital onset. MSH:C531747|UMLS:C0853240 hp.json Congenital bilateral facial palsy|Congenital bilateral facial weakness http://purl.obolibrary.org/obo/HP_0007188 UBERON:0000369 biolink:AnatomicalEntity corpus striatum The corpus striatum (striated body) is a compound structure consisting of the caudate nucleus and the lentiform nucleus, which consists of the putamen and the globus pallidus[WP]. GAID:667|UMLS:C0010097|EFO:0000381|NCIT:C12448|VHOG:0001175|FMA:77616|CALOHA:TS-0183|EHDAA2:0000596|MESH:D003342|BTO:0001311|EMAPA:17549|EV:0100184|BAMS:CSTR hp.json striated body|striate body http://purl.obolibrary.org/obo/UBERON_0000369 efo_slim HP:0020159 biolink:PhenotypicFeature Reduced response to gonadotropin-releasing hormone stimulation test Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. hp.json Reduce response to GnRH stimulation test http://purl.obolibrary.org/obo/HP_0020159 UBERON:0012354 biolink:AnatomicalEntity acropodium region The segment of the autopod that is distal to the metapodial region and consists of the digits. hp.json set of digits|acropodial segment of autopod|acropodial limb segment|acropodial region http://purl.obolibrary.org/obo/UBERON_0012354 UBERON:0012351 biolink:AnatomicalEntity urachal lumen An anatomical space that is enclosed by a urachus. hp.json urachus lumen http://purl.obolibrary.org/obo/UBERON_0012351 UBERON:0012358 biolink:AnatomicalEntity manual digitopodium bone A bone that is part of a the manual digitopodium skeleton - i.e. the fingers or the metacarpal skeleton. hp.json bone of forelimb digitopodium http://purl.obolibrary.org/obo/UBERON_0012358 UBERON:0012357 biolink:AnatomicalEntity digitopodium bone A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. hp.json digit bone http://purl.obolibrary.org/obo/UBERON_0012357 UBERON:0012356 biolink:AnatomicalEntity pedal acropodium region The segment of the pes that is distal to the metatarsal region and consists of the pedal digits (toes). FMA:70664 hp.json toes set|acropodial region of pes|set of toes|toes|all toes|acropodial segment of pes|digits of foot|acropodial forelimb segment|pedal acropodium region http://purl.obolibrary.org/obo/UBERON_0012356 UBERON:0012355 biolink:AnatomicalEntity manual acropodium region The segment of the manus that is distal to the metacarpal region and consists of the manual digits (fingers). FMA:75592 hp.json anterior acropodium segment of limb|set of fingers|anterior acropodium region|manual acropodium|digits of hand|manual acropodium region|acropodial segment of manus|anterior acropodium|fingers set|acropodial hindlimb segment|all fingers|set of digits of hand|acropodial region of manus|digiti manus|fingers including thumb|manual acropodium segment of limb http://purl.obolibrary.org/obo/UBERON_0012355 HP:0020150 biolink:PhenotypicFeature Elevated urinary uromodulin An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine. hp.json Elevated urinary Tamm-Horsfall protein concentration http://purl.obolibrary.org/obo/HP_0020150 OBO:hp#abbreviation biolink:NamedThing abbreviation hp.json http://purl.obolibrary.org/obo/hp#abbreviation UBERON:0000376 biolink:AnatomicalEntity hindlimb stylopod The part of the hindlimb between pelvis and the knee, corresponding to the femur. EHDAA:5171|EMAPA:17499|NCIT:C33763|EFO:0001943|UMLS:C0039866|OpenCyc:Mx4rvVjN7JwpEbGdrcN5Y29ycA|FMA:24967|VHOG:0000349|galen:Thigh|MA:0000052|EHDAA:6200|BTO:0001376|EHDAA2:0002130|CALOHA:TS-2039|MESH:D013848|GAID:50 hp.json hind limb stylopod|stylopod of hindlimb|upper leg|hind limb stylopodium|femur|stylopod of hind limb|proximal segment of free lower limb|hindlimb propodium|hind propodium|thigh|stylopod of lower limb|hindlimb stylopod|hindlimb stylopodium http://purl.obolibrary.org/obo/UBERON_0000376 pheno_slim|efo_slim HP:0020156 biolink:PhenotypicFeature Abnormal zona pellucida morphology Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida. hp.json http://purl.obolibrary.org/obo/HP_0020156 HP:0020155 biolink:PhenotypicFeature Abnormal oocyte morphology An abnormal structure of the female germ cell (egg cell). hp.json http://purl.obolibrary.org/obo/HP_0020155 UBERON:0000377 biolink:AnatomicalEntity maxillary nerve The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses. SCTID:280211001|MA:0001103|FMA:52724|Wikipedia:Maxillary_nerve|OpenCyc:Mx4rvWNU9JwpEbGdrcN5Y29ycA|BTO:0001378|GAID:836|AAO:0010670|VHOG:0001346|EHDAA2:0002087|EMAPA:17799|MESH:D008442 hp.json maxillary nerve [V2]|maxillary nerve [Vb]|nervus maxillaris|second division of fifth cranial nerve|maxillary division of fifth cranial nerve|nervus maxillaris [vb]|trigeminal V nerve maxillary division|nervus maxillaris [v2]|ramus maxillaris (ramus V2)|n. maxillaris|maxillary division of trigeminal nerve (Vb; V2)|trigeminal nerve maxillary division|second division of trigeminal nerve|n. maxillaris|nervus maxillaris (Vb; V2)|maxillary division [V2]|maxillary division [Vb] http://purl.obolibrary.org/obo/UBERON_0000377 pheno_slim|human_reference_atlas UBERON:0000378 biolink:AnatomicalEntity tongue muscle The muscular portion of the tongue. UMLS:C0448325|EMAPA:17883|Wikipedia:Muscles_of_tongue|SCTID:244781004|MA:0001596|VHOG:0001390|UMLS:C1710437|NCIT:C52707|NCIT:C49301|FMA:46689|EHDAA2:0002065|EHDAA:9146|BTO:0001386 hp.json musculi linguae|muscle organ of tongue|tongue skeletal muscle|skeletal muscle tissue of tongue|muscle of tongue|tongue skeletal muscle tissue|musculi linguae http://purl.obolibrary.org/obo/UBERON_0000378 pheno_slim HP:0020158 biolink:PhenotypicFeature Increased circulating adrenic acid concentration An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation. hp.json Increased circulating docosatetraenoate level http://purl.obolibrary.org/obo/HP_0020158 UBERON:0000379 biolink:AnatomicalEntity tracheal mucosa A mucosa that is part of a respiratory airway. BTO:0001390|FMA:7471|SCTID:660006 hp.json mucosa of windpipe|organ mucosa of windpipe|mucous membrane of windpipe|trachea mucosa|trachea organ mucosa|windpipe mucosa of organ|windpipe mucosa|windpipe organ mucosa|mucous membrane of trachea|organ mucosa of trachea|trachea mucosa of organ|mucosa of trachea|tunica mucosa tracheae|windpipe mucous membrane|trachea mucous membrane|mucosa of organ of trachea|mucosa of organ of windpipe|mucous membrane of trachea|tracheal mucous membrane|tunica mucosa (tracheae) http://purl.obolibrary.org/obo/UBERON_0000379 HP:0020157 biolink:PhenotypicFeature Thin zona pellucida Reduced thickness of the zona pellucida. hp.json http://purl.obolibrary.org/obo/HP_0020157 HP:0020152 biolink:PhenotypicFeature Distal joint laxity Lack of stability of a distal joint (e.g., finger). hp.json http://purl.obolibrary.org/obo/HP_0020152 HP:0020151 biolink:PhenotypicFeature Anti-dsDNA antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. hp.json http://purl.obolibrary.org/obo/HP_0020151 CHEBI:76971 biolink:ChemicalSubstance Escherichia coli metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. hp.json E.coli metabolite|Escherichia coli metabolites|E.coli metabolites http://purl.obolibrary.org/obo/CHEBI_76971 3_STAR HP:0020154 biolink:PhenotypicFeature Nevus comedonicus A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones. hp.json http://purl.obolibrary.org/obo/HP_0020154 HP:0007199 biolink:PhenotypicFeature Progressive spastic paraparesis UMLS:C0747251 hp.json http://purl.obolibrary.org/obo/HP_0007199 UBERON:0000375 biolink:AnatomicalEntity mandibular nerve The motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini. MESH:D008340|AAO:0010688|MA:0001101|Wikipedia:Mandibular_nerve|FMA:52996|UMLS:C0024695|OpenCyc:Mx4rvcQKSpwpEbGdrcN5Y29ycA|SCTID:280212008|GAID:834|BTO:0001375|VHOG:0001345|EHDAA2:0002086|NCIT:C32779|EMAPA:17798|AAO:0010703 hp.json nervus mandibularis [Vc; V3]|trigeminal V nerve mandibular division|trigeminal nerve mandibular division|ramus mandibularis (ramus V3)|mandibular division [V3]|mandibular division [Vc]|mandibular nerve [Vc]|mandibular nerve [V3]|nervus mandibularis [vc]|nervus mandibularis [v3]|mandibular division of fifth cranial nerve|n. mandibularis|third division of trigeminal nerve|nervus mandibularis|inferior maxillary nerve|third division of fifth cranial nerve|mandibular division of trigeminal nerve [Vc; V3]|n. mandibularis http://purl.obolibrary.org/obo/UBERON_0000375 pheno_slim|human_reference_atlas HP:0020153 biolink:PhenotypicFeature Positive blood 1,3 beta glucan test Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis. hp.json http://purl.obolibrary.org/obo/HP_0020153 UBERON:0000358 biolink:AnatomicalEntity blastocyst The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. EV:0100394|UMLS:C1281743|GAID:1153|NCIT:C13739|BTO:0001099|EFO:0000295|FMA:83041|Wikipedia:Blastocyst|EMAPA:36035|CALOHA:TS-0076|SCTID:308837009|MESH:D001755 hp.json blastocystis|blastula|blastocystis http://purl.obolibrary.org/obo/UBERON_0000358 efo_slim HP:0020149 biolink:PhenotypicFeature Elevated circulating succinate An increase concentration of succinate in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0020149 HP:0020148 biolink:PhenotypicFeature Increased circulating mead acid level An abnormally elevated concentration od mead acid in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0020148 UBERON:0012344 biolink:AnatomicalEntity holocrine gland Any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. BTO:0002325|MA:0003042 hp.json http://purl.obolibrary.org/obo/UBERON_0012344 pheno_slim CHEBI:15986 biolink:ChemicalSubstance polynucleotide A nucleobase-containing molecular entity with a polymeric structure comprised of a linear sequence of 13 or more nucleotide residues. KEGG:C00419 hp.json Polynucleotide|polynucleotides http://purl.obolibrary.org/obo/CHEBI_15986 3_STAR HP:0020145 biolink:PhenotypicFeature Calcium oxalate crystalluria The presence of calcium oxalate crystals in the urine. hp.json http://purl.obolibrary.org/obo/HP_0020145 UBERON:0000366 biolink:AnatomicalEntity flexor muscle A skeletal muscle whose contraction bends a joint. TAO:0005271|FMA:74559|FMA:74999|BTO:0001257|ZFA:0005271 hp.json flexor http://purl.obolibrary.org/obo/UBERON_0000366 vertebrate_core|pheno_slim HP:0020144 biolink:PhenotypicFeature Calcium phosphate crystalluria The presence of calcium phosphate crystals in the urine. hp.json http://purl.obolibrary.org/obo/HP_0020144 HP:0020147 biolink:PhenotypicFeature 2-Methylbutyryl glycinuria Increased concentration of 2-methylbutyryl glycine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0020147 HP:0020146 biolink:PhenotypicFeature Calcium carbonate crystalluria The presence of calcium carbonate crystals in the urine. hp.json http://purl.obolibrary.org/obo/HP_0020146 UBERON:0000361 biolink:AnatomicalEntity red bone marrow The red vascular substance consisting of connective tissue and blood vessels, containing primitive blood cells, macrophages, megakaryocytes, and fat cells. Red marrow is found in the cavities of many bones. It manufactures and releases leukocytes and erythrocytes into the bloodstream. SCTID:75330005|BTO:0001160|SCTID:328538003|FMA:74595 hp.json parenchyma of none marrow marrow|red marrow|parenchyma of none marrow marrow|parenchymal red marrow|medulla ossium rubra|parenchymal red marrow http://purl.obolibrary.org/obo/UBERON_0000361 HP:0020141 biolink:PhenotypicFeature Blood pressure substantially higher in legs than arms An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. hp.json Blood pressure substantially higher in lower than upper extremities|Blood pressure substantially lower in upper than lower extremities|Blood pressure substantially lower in arms than legs http://purl.obolibrary.org/obo/HP_0020141 HP:0007163 biolink:PhenotypicFeature obsolete Corticospinal tract disease in lower limbs hp.json http://purl.obolibrary.org/obo/HP_0007163 HP:0020140 biolink:PhenotypicFeature History of recent tick bite Medical history of a recent bite injury due to a tick. hp.json http://purl.obolibrary.org/obo/HP_0020140 UBERON:0000362 biolink:AnatomicalEntity renal medulla The inner portion of the kidney consisting of the renal pyramids. galen:MedullaOfKidney|EMAPA:19279|NCIT:C12740|MA:0000373|MESH:D007679|BTO:0001167|GAID:425|UMLS:C0022664|CALOHA:TS-1157 hp.json renal marrow|medulla of kidney|medulla renalis|renal pyramids set|medullary pyramids|kidney medulla|renal pyramids|renal medullae set|pyramides renales|renal medullae http://purl.obolibrary.org/obo/UBERON_0000362 pheno_slim|human_reference_atlas HP:0007164 biolink:PhenotypicFeature Slowed slurred speech UMLS:C4024929 hp.json Slowed slurred speech http://purl.obolibrary.org/obo/HP_0007164 HP:0007165 biolink:PhenotypicFeature Periventricular heterotopia A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. UMLS:C1849173 hp.json Subependymal gray matter heterotopia|Periventricular neuronal heterotopia|Periventricular grey matter heterotopia|Subependymal grey matter heterotopia|Subependymal neuronal heterotopia|Periventricular gray matter heterotopia http://purl.obolibrary.org/obo/HP_0007165 HP:0020143 biolink:PhenotypicFeature Tracheal duplication cyst A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium. hp.json http://purl.obolibrary.org/obo/HP_0020143 HP:0007166 biolink:PhenotypicFeature Paroxysmal dyskinesia Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. UMLS:C1836174|MSH:D002819|UMLS:C0752210 hp.json Involuntary dystonic or choreiform movements http://purl.obolibrary.org/obo/HP_0007166 HP:0020142 biolink:PhenotypicFeature Blood pressure substantially higher in arms than legs An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. hp.json Blood pressure substantially higher in upper than lower extremities|Increased arm-leg blood pressure gradient http://purl.obolibrary.org/obo/HP_0020142 HP:0007181 biolink:PhenotypicFeature Interosseus muscle atrophy Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones. UMLS:C1846829 hp.json Interosseous muscular atrophy http://purl.obolibrary.org/obo/HP_0007181 HP:0007182 biolink:PhenotypicFeature Peripheral hypomyelination Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. UMLS:C4024927 hp.json http://purl.obolibrary.org/obo/HP_0007182 HP:0007183 biolink:PhenotypicFeature Focal T2 hyperintense basal ganglia lesion A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. UMLS:C4024926|UMLS:C1865351 hp.json Hyperintense lesions in the basal ganglia on MRI http://purl.obolibrary.org/obo/HP_0007183 CHEBI:74337 biolink:ChemicalSubstance D-asparagine zwitterion A D-alpha-amino acid zwitterion that is D-asparagine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. hp.json (2R)-4-amino-2-ammonio-4-oxobutanoate|D-asparagine|(2R)-4-amino-2-azaniumyl-4-oxobutanoate http://purl.obolibrary.org/obo/CHEBI_74337 3_STAR HP:0020138 biolink:PhenotypicFeature History of recent animal bite Medical history of a recent bite injury due to an animal. hp.json http://purl.obolibrary.org/obo/HP_0020138 UBERON:0000347 biolink:AnatomicalEntity entire myelin sheath The insulating envelope that surrounds nerve fibers or axons. NCIT:C13261|UMLS:C0026973|GAID:731|MESH:D009186|CALOHA:TS-2363|BTO:0000900|GO:0043209|FMA:62983 hp.json medullary sheath http://purl.obolibrary.org/obo/UBERON_0000347 pheno_slim UBERON:0000348 biolink:AnatomicalEntity ophthalmic nerve The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead. OpenCyc:Mx4rwEs_K5wpEbGdrcN5Y29ycA|EHDAA2:0002088|EMAPA:17800|AAO:0010648|BTO:0000926|MESH:D009882|MA:0001104|EHDAA:3744|NCIT:C33215|UMLS:C0029082|FMA:52621|GAID:837|VHOG:0001349 hp.json profundal nerve|ciliary nerve|ophthalmic nerve [Va]|ophthalmic nerve [V1]|trigeminal nerve ophthalmic division|ophthalmic division [Va]|ophthalmic division [V1]|trigeminal V nerve ophthalmic division|ophthalmic division|ramus opthalmicus profundus (ramus V1)|first branch of fifth cranial nerve|ethmoidal nerve|profundus nerve|cranial nerve V, branch V1|nervus ophthalmicus [va]|nervus ophthalmicus [v1]|rostral branch of trigeminal nerve|ophthalmic division of fifth cranial nerve|first division of trigeminal nerve|ophthalmic division of trigeminal nerve (Va)|opthalmic nerve|first division of fifth cranial nerve|ophthalmic division of trigeminal nerve (V1)|nervus ophthalmicus (V1)|nervus ophthalmicus (Va)|ophthalmic division|profundus http://purl.obolibrary.org/obo/UBERON_0000348 human_reference_atlas|pheno_slim HP:0020137 biolink:PhenotypicFeature Anticardiolipin IgM antibody positivity The presence of circulating IgM autoantibodies to cardiolipin. hp.json http://purl.obolibrary.org/obo/HP_0020137 UBERON:0000349 biolink:AnatomicalEntity limbic system A set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. GAID:615|UMLS:C0023715|BTO:0000928|FMA:242000|NCIT:C94541|MESH:D008032|OpenCyc:Mx4rwAeba5wpEbGdrcN5Y29ycA|CALOHA:TS-1307 hp.json visceral brain http://purl.obolibrary.org/obo/UBERON_0000349 non_informative|pheno_slim HP:0020139 biolink:PhenotypicFeature History of recent insect bite Medical history of a recent bite injury due to an insect. hp.json http://purl.obolibrary.org/obo/HP_0020139 UBERON:0012332 biolink:AnatomicalEntity broad ligament of uterus A broad fold of peritoneum that extends from the side of the uterus to the wall of the pelvis. NCIT:C12318|MESH:D001956|FMA:16516|UMLS:C0006205 hp.json ligamentum latum uteri|broad uterine ligament|broad ligament http://purl.obolibrary.org/obo/UBERON_0012332 human_reference_atlas HP:0032101 biolink:PhenotypicFeature Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. hp.json http://purl.obolibrary.org/obo/HP_0032101 HP:0032102 biolink:PhenotypicFeature Wilson sign Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia. hp.json http://purl.obolibrary.org/obo/HP_0032102 UBERON:0012330 biolink:AnatomicalEntity nasal-associated lymphoid tissue The lymphocytic cell population present in the mucosa of the nasopharyngeal duct of some animals. NCIT:C77659|FMA:79771|UMLS:C2698431|MA:0003030 hp.json NALT|naso-pharyngeal lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0012330 HP:0032104 biolink:PhenotypicFeature Saccadic oscillation An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade. hp.json Saccadic oscillations http://purl.obolibrary.org/obo/HP_0032104 HP:0032100 biolink:PhenotypicFeature Abnormal doll's eye reflex The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage. hp.json http://purl.obolibrary.org/obo/HP_0032100 UBERON:0012329 biolink:AnatomicalEntity keratinized stratified squamous epithelium Keratinized stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesize and accumulate keratin. FMA:45568 hp.json epithelium stratificatum squamosum cornificatum http://purl.obolibrary.org/obo/UBERON_0012329 HP:0032109 biolink:PhenotypicFeature Moderately reduced contrast sensitivity A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss. hp.json Moderate reduction in contrast sensitivity http://purl.obolibrary.org/obo/HP_0032109 HP:0032105 biolink:PhenotypicFeature Macrosaccadic oscillations A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern. hp.json Macrosaccadic oscillation http://purl.obolibrary.org/obo/HP_0032105 HP:0032106 biolink:PhenotypicFeature Conjunctival icterus Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. hp.json Yellowing of the whites of the eyes|Scleral icterus|Yellow conjunctiva|Yellow sclera http://purl.obolibrary.org/obo/HP_0032106 HP:0032107 biolink:PhenotypicFeature Limbal stem cell deficiency A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. hp.json http://purl.obolibrary.org/obo/HP_0032107 HP:0032108 biolink:PhenotypicFeature Mildly reduced contrast sensitivity A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss. hp.json Mild reduction in contrast sensitivity http://purl.obolibrary.org/obo/HP_0032108 HP:0007178 biolink:PhenotypicFeature Motor polyneuropathy SNOMEDCT_US:95663000|UMLS:C0271683|UMLS:C0235025|MSH:D009443|SNOMEDCT_US:85423005|MSH:D011115 hp.json Peripheral motor neuropathy http://purl.obolibrary.org/obo/HP_0007178 HP:0020134 biolink:PhenotypicFeature Increased urine neutrophil count Abnormally increased count of neutrophils in urine. hp.json http://purl.obolibrary.org/obo/HP_0020134 HP:0007179 biolink:PhenotypicFeature Absent smooth pursuit A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. UMLS:C4024928 hp.json http://purl.obolibrary.org/obo/HP_0007179 UBERON:0000355 biolink:AnatomicalEntity pharyngeal mucosa A mucosa that is part of a pharynx [Automatically generated definition]. FMA:55031|SCTID:362121003|MA:0003143|EMAPA:26957|BTO:0001047 hp.json mucous membrane of pharynx|organ mucosa of pharynx|pharynx mucosa of organ|mucous membrane of pharynx|mucosa of pharynx|mucosa of organ of pharynx|pharynx mucous membrane|tunica mucosa pharyngis|mucous membrane of the pharynx|pharynx mucosa|pharynx organ mucosa|tunica mucosa pharyngea http://purl.obolibrary.org/obo/UBERON_0000355 HP:0020133 biolink:PhenotypicFeature Podocyte hypertrophy Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. hp.json Hypertrophy of visceral epithelial cells|Glomerular visceral epithelial cell hypertrophy http://purl.obolibrary.org/obo/HP_0020133 HP:0020136 biolink:PhenotypicFeature Anticardiolipin IgG antibody positivity The presence of circulating IgG autoantibodies to cardiolipin. hp.json http://purl.obolibrary.org/obo/HP_0020136 HP:0020135 biolink:PhenotypicFeature Myofibromatosis A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance. hp.json http://purl.obolibrary.org/obo/HP_0020135 HP:0020130 biolink:PhenotypicFeature Increased urinary neutrophil gelatinase-associated lipocalin An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter). hp.json Increased urinary NGAL http://purl.obolibrary.org/obo/HP_0020130 UBERON:0000351 biolink:AnatomicalEntity nuchal ligament A fibrous membrane, which, in the neck, represents the supraspinal ligaments of the upper vertebrae. BTO:0000952|FMA:13427|EMAPA:19207 hp.json paxwax|paddywhack|ligament of neck|ligamentum nuchae http://purl.obolibrary.org/obo/UBERON_0000351 HP:0020132 biolink:PhenotypicFeature Thickening of the tubular basement membrane Increase in thickness of the basement membrane of the tubulus of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0020132 UBERON:0000353 biolink:AnatomicalEntity parenchyma Functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. Wikipedia:Parenchyma|NCIT:C74601|EHDAA:6903|EHDAA:8086|EHDAA:3999|EHDAA:9196|EHDAA:9182|EHDAA:6899|EHDAA:4005|EHDAA:3015|EHDAA:9190|EHDAA:6994|UMLS:C0933845|FMA:45732|EHDAA:9202|EHDAA:3905 hp.json http://purl.obolibrary.org/obo/UBERON_0000353 HP:0020131 biolink:PhenotypicFeature Abnormal tubular basement membrane morphology Abnormal structure of the basement membrane of the renal tubulus. hp.json http://purl.obolibrary.org/obo/HP_0020131 UBERON:0002916 biolink:AnatomicalEntity central sulcus The central sulcus is a fold in the cerebral cortex of brains in vertebrates. Also called the central fissure, it was originally called the fissure of Rolando or the Rolandic fissure, after Luigi Rolando. The central sulcus is a prominent landmark of the brain, separating the parietal lobe from the frontal lobe and the primary motor cortex from the primary somatosensory cortex. [WP,unvetted]. DHBA:10614|NCIT:C32280|HBA:9403|UMLS:C1281071|BIRNLEX:4035|OpenCyc:Mx4rvjMKxpwpEbGdrcN5Y29ycA|FMA:83752|UMLS:C0228188|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=48|BM:Tel-Cx-CS|UMLS:C0228188|BAMS:cs hp.json central cerebral sulcus|central fissure|sulcus centralis cerebri|rolandic fissure|sulcus centralis|sulcus centralis (rolandi)|CS|central sulcus of Rolando|sulcus centralis cerebri|fissure of Rolando|sulcus of Rolando http://purl.obolibrary.org/obo/UBERON_0002916 uberon_slim HP:0010720 biolink:PhenotypicFeature Abnormal hair pattern An abnormality of the distribution of hair growth. UMLS:C4023721 hp.json Abnormal hair pattern|Abnormal distribution of hair http://purl.obolibrary.org/obo/HP_0010720 UBERON:8470000 biolink:AnatomicalEntity placental blood Blood located in the placenta. hp.json http://purl.obolibrary.org/obo/UBERON_8470000 HP:0009728 biolink:PhenotypicFeature Neoplasm of striated muscle A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle. UMLS:C4021396|NCIT:C3262 hp.json Tumours of striated muscle|Tumors of striated muscle http://purl.obolibrary.org/obo/HP_0009728 HP:0010728 biolink:PhenotypicFeature Aplasia of the retina A developmental defect characterized by absence of the retina. UMLS:C4023718 hp.json Absent retina http://purl.obolibrary.org/obo/HP_0010728 HP:0010727 biolink:PhenotypicFeature Spontaneous rupture of the globe Rupture of the eyeball not due to trauma. UMLS:C4023719 hp.json http://purl.obolibrary.org/obo/HP_0010727 hposlim_core HP:0009727 biolink:PhenotypicFeature Achromatic retinal patches Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. UMLS:C1860710 hp.json Punched out areas of chorioretinal hypopigmentation http://purl.obolibrary.org/obo/HP_0009727 HP:0010726 biolink:PhenotypicFeature Prominent corneal nerve fibers Abnormal prominence of the corneal nerve fibers. UMLS:C4021233 hp.json Prominent corneal nerve fibres|Visible corneal nerve fibers|Visible corneal nerve fibres http://purl.obolibrary.org/obo/HP_0010726 HP:0009729 biolink:PhenotypicFeature Cardiac rhabdomyoma A benign tumor of cardiac striated muscle. UMLS:C1332852 hp.json http://purl.obolibrary.org/obo/HP_0009729 HP:0009724 biolink:PhenotypicFeature Subungual fibromas The presence of fibromata beneath finger or toenails. SNOMEDCT_US:39295002|UMLS:C0266003 hp.json Subungual fibroma http://purl.obolibrary.org/obo/HP_0009724 HP:0010724 biolink:PhenotypicFeature Advanced pneumatization of the mastoid process An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. UMLS:C4021828 hp.json http://purl.obolibrary.org/obo/HP_0010724 hposlim_core HP:0009723 biolink:PhenotypicFeature Abnormality of the subungual region A lesion located beneath a fingernail or toenail. UMLS:C4024219 hp.json http://purl.obolibrary.org/obo/HP_0009723 HP:0010723 biolink:PhenotypicFeature Cystic lesions of the pinnae UMLS:C4023720 hp.json http://purl.obolibrary.org/obo/HP_0010723 HP:0009726 biolink:PhenotypicFeature Renal neoplasm The presence of a neoplasm of the kidney. SNOMEDCT_US:126880001|UMLS:C1378703|UMLS:C0022665|NCIT:C3262|MSH:D007680 hp.json Neoplasia of the kidneys|Renal neoplasia|Kidney cancer|Renal tumours|Renal tumors http://purl.obolibrary.org/obo/HP_0009726 HP:0010722 biolink:PhenotypicFeature Asymmetry of the ears An asymmetriy, i.e., difference in size, shape or position between the left and right ear. UMLS:C1168239 hp.json Asymmetric ears http://purl.obolibrary.org/obo/HP_0010722 hposlim_core HP:0009725 biolink:PhenotypicFeature Bladder neoplasm The presence of a neoplasm of the urinary bladder. SNOMEDCT_US:126885006|MSH:D001749|UMLS:C0005695|NCIT:C3262 hp.json Bladder tumor|Bladder cancer|Bladder tumour http://purl.obolibrary.org/obo/HP_0009725 HP:0010721 biolink:PhenotypicFeature Abnormal hair whorl An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). UMLS:C3280303 hp.json Abnormal hair whorl|Abnormal hair whorls|Abnormal whorl of hair http://purl.obolibrary.org/obo/HP_0010721 HP:0009720 biolink:PhenotypicFeature Adenoma sebaceum The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. MSH:D014402|SNOMEDCT_US:36025004|SNOMEDCT_US:78424008|UMLS:C0265319|UMLS:C1368816 hp.json Sebaceous adenoma|Facial angiofibromas|Sebaceous adenomas http://purl.obolibrary.org/obo/HP_0009720 CHEBI:37395 biolink:ChemicalSubstance mucopolysaccharide Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. KEGG:C05114 hp.json Mukopolysaccharid|mucopolisacarido|Mucopolysaccharide|mucopolisacaridos|mucopolysaccharides|Mucopolysaccharid http://purl.obolibrary.org/obo/CHEBI_37395 3_STAR CHEBI:144637 biolink:ChemicalSubstance 4-hydroxy-D-proline The D-stereoisomer of 4-hydroxyproline. hp.json 4-hydroxy-D-Pro|4-OH-D-Pro|4-hydroxy-D-proline|(2R)-4-hydroxypyrrolidine-2-carboxylic acid http://purl.obolibrary.org/obo/CHEBI_144637 3_STAR HP:0009722 biolink:PhenotypicFeature Dental enamel pits The presence of small depressions in the dental enamel. UMLS:C1860711 hp.json Pitting of tooth enamel|Tooth enamel pits|Dental enamel pits|Dental enamel pitting http://purl.obolibrary.org/obo/HP_0009722 HP:0009721 biolink:PhenotypicFeature Shagreen patch A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather. SNOMEDCT_US:254244007|UMLS:C0432363 hp.json http://purl.obolibrary.org/obo/HP_0009721 hposlim_core CHEBI:37397 biolink:ChemicalSubstance chondroitin sulfate Any of a class of 10--60 kDa glycosaminoglycan sulfates, widely distributed in cartilage and other mammalian connective tissues. PMID:7538297|PMID:11514091|KEGG:C00607|CAS:9007-28-7|CAS:9007-28-7 hp.json Chondroitin sulfate|Chondroitinsulfat|chondroitin sulfuric acid|chondroitin polysulfate|chondroitin sulphate|chondroitin sulfates http://purl.obolibrary.org/obo/CHEBI_37397 3_STAR HP:0010729 biolink:PhenotypicFeature Cherry red spot of the macula Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. UMLS:C2216370 hp.json Macular cherry red spot http://purl.obolibrary.org/obo/HP_0010729 GO:0035418 biolink:BiologicalProcess protein localization to synapse Any process in which a protein is transported to, and/or maintained at the synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. hp.json protein localisation to synapse http://purl.obolibrary.org/obo/GO_0035418 HP:0010717 biolink:PhenotypicFeature Osseous syndactyly of toes Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". SNOMEDCT_US:38859008|SNOMEDCT_US:32113001|UMLS:C0158738 hp.json Osseous syndactyly of the toes http://purl.obolibrary.org/obo/HP_0010717 hposlim_core HP:0009739 biolink:PhenotypicFeature Hypoplasia of the antihelix Developmental hypoplasia of the antihelix. UMLS:C4021394 hp.json Hypoplastic antihelix http://purl.obolibrary.org/obo/HP_0009739 HP:0009738 biolink:PhenotypicFeature Abnormal antihelix morphology An abnormality of the antihelix. UMLS:C4021395 hp.json Abnormal anthelix|Abnormal antehelix|Abnormal antihelix http://purl.obolibrary.org/obo/HP_0009738 hposlim_core HP:0010716 biolink:PhenotypicFeature 3-5 toe syndactyly Syndactyly with fusion of toes three to five. UMLS:C4023723 hp.json Webbed 3rd-5th toes http://purl.obolibrary.org/obo/HP_0010716 HP:0010715 biolink:PhenotypicFeature 2-5 toe syndactyly Syndactyly with fusion of toes two to five. UMLS:C4023724 hp.json Webbed 2nd-5th toes http://purl.obolibrary.org/obo/HP_0010715 HP:0010714 biolink:PhenotypicFeature 2-4 toe syndactyly Syndactyly with fusion of toes two to four. UMLS:C4021234 hp.json Syndactyly of toes 2, 3 and 4|Syndactyly toes 2-4|Webbed 2nd-4th toes http://purl.obolibrary.org/obo/HP_0010714 HP:0009735 biolink:PhenotypicFeature Spinal neurofibromas Neurofibromas originating in the spine. UMLS:C4024217 hp.json http://purl.obolibrary.org/obo/HP_0009735 HP:0010713 biolink:PhenotypicFeature 1-5 toe syndactyly Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot). UMLS:C4021235 hp.json Webbed 1st-5th toes|Syndactyly of all toes http://purl.obolibrary.org/obo/HP_0010713 HP:0010712 biolink:PhenotypicFeature 1-4 toe syndactyly Syndactyly with fusion of toes one to four. UMLS:C4023725 hp.json Webbed first through fourth toes http://purl.obolibrary.org/obo/HP_0010712 HP:0009734 biolink:PhenotypicFeature Optic nerve glioma A glioma originating in the optic nerve or optic chiasm. UMLS:C0346326|SNOMEDCT_US:254976006|MSH:D020339|SNOMEDCT_US:404662003 hp.json Optic glioma http://purl.obolibrary.org/obo/HP_0009734 HP:0009737 biolink:PhenotypicFeature Lisch nodules The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. UMLS:C1860334 hp.json Iris hamartomas http://purl.obolibrary.org/obo/HP_0009737 hposlim_core HP:0010711 biolink:PhenotypicFeature 1-2 toe syndactyly Syndactyly with fusion of toes one and two. UMLS:C4023726 hp.json Webbed first and second toes|Webbed 1st-2nd toes http://purl.obolibrary.org/obo/HP_0010711 HP:0009736 biolink:PhenotypicFeature Tibial pseudarthrosis Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life. UMLS:C4024216 hp.json Tibial pseudoarthrosis http://purl.obolibrary.org/obo/HP_0009736 HP:0010710 biolink:PhenotypicFeature 3-5 finger syndactyly Syndactyly with fusion of fingers three to five. UMLS:C4023727 hp.json Webbed third, fourth and fifth toes http://purl.obolibrary.org/obo/HP_0010710 HP:0009731 biolink:PhenotypicFeature Cerebral hamartoma The presence of a hamartoma of the cerebrum. UMLS:C4024218 hp.json Cerebral hamartomata http://purl.obolibrary.org/obo/HP_0009731 HP:0009730 biolink:PhenotypicFeature Rhabdomyoma A benign tumor of striated muscle. SNOMEDCT_US:302846007|NCIT:C3358|UMLS:C0035411|SNOMEDCT_US:43375002|MSH:D012207|SNOMEDCT_US:402877008 hp.json http://purl.obolibrary.org/obo/HP_0009730 HP:0009733 biolink:PhenotypicFeature Glioma The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). MSH:D005910|UMLS:C0017638|NCIT:C3059|SNOMEDCT_US:115240006|SNOMEDCT_US:74532006|SNOMEDCT_US:393564001 hp.json http://purl.obolibrary.org/obo/HP_0009733 HP:0009732 biolink:PhenotypicFeature Plexiform neurofibroma A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. UMLS:C0206728|SNOMEDCT_US:41252002|SNOMEDCT_US:403818001|MSH:D018318 hp.json http://purl.obolibrary.org/obo/HP_0009732 HP:0010719 biolink:PhenotypicFeature Abnormality of hair texture An abnormality of the texture of the hair. UMLS:C4073290|UMLS:C4072881|UMLS:C4023722|UMLS:C4072880 hp.json Abnormality of hair curl pattern|Abnormality of hair volume|Abnormality of hair consistency|Abnormality of hair texture http://purl.obolibrary.org/obo/HP_0010719 HP:0009709 biolink:PhenotypicFeature Increased CSF interferon alpha Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). UMLS:C1856983 hp.json http://purl.obolibrary.org/obo/HP_0009709 HP:0010706 biolink:PhenotypicFeature 1-3 finger syndactyly Syndactyly with fusion of fingers one to three. UMLS:C4023730 hp.json Webbed 1st-3rd finger http://purl.obolibrary.org/obo/HP_0010706 HP:0009706 biolink:PhenotypicFeature Synostosis involving the 3rd metacarpal UMLS:C4024227 hp.json Fusion involving the 3rd long bone of hand http://purl.obolibrary.org/obo/HP_0009706 HP:0010705 biolink:PhenotypicFeature 4-5 finger syndactyly Syndactyly with fusion of fingers four and five. UMLS:C4023731 hp.json Webbed 4th-5th finger http://purl.obolibrary.org/obo/HP_0010705 HP:0009705 biolink:PhenotypicFeature Synostosis involving the 2nd metacarpal UMLS:C4024228 hp.json Fusion involving the 2nd long bone of hand http://purl.obolibrary.org/obo/HP_0009705 HP:0010704 biolink:PhenotypicFeature 1-2 finger syndactyly Syndactyly with fusion of fingers one and two. UMLS:C4023732 hp.json Webbed 1st-2nd finger|Webbed thumb and index finger http://purl.obolibrary.org/obo/HP_0010704 HP:0009708 biolink:PhenotypicFeature Synostosis involving the 5th metacarpal UMLS:C4024225 hp.json Fusion involving the 5th long bone of hand http://purl.obolibrary.org/obo/HP_0009708 HP:0009707 biolink:PhenotypicFeature Synostosis involving the 4th metacarpal UMLS:C4024226 hp.json Fusion involving the 4th long bone of hand http://purl.obolibrary.org/obo/HP_0009707 HP:0010702 biolink:PhenotypicFeature Increased circulating antibody level An increased level of gamma globulin (immunoglobulin) in the blood. MSH:D006942|UMLS:C0541985|SNOMEDCT_US:129646001|UMLS:C1306857|SNOMEDCT_US:127388009|UMLS:C2048011|UMLS:C0151669|UMLS:C0020455 hp.json Increased gamma globulin|Increased antibody level in blood|Elevated immunoglobulin levels|Raised immunoglobulin levels|Increased serum gamma globulin|Increased immunoglobulin level|Hypergammaglobulinaemia|Hyperglobulinemia|Hypergammaglobulinemia http://purl.obolibrary.org/obo/HP_0010702 HP:0009702 biolink:PhenotypicFeature Carpal synostosis Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). UMLS:C0431863|SNOMEDCT_US:253930002 hp.json Synostosis involving the carpal bones|Fusion of carpal bones|Fused carpal bones|Fused wrist bones|Carpal fusion|Carpal bone fusion http://purl.obolibrary.org/obo/HP_0009702 hposlim_core HP:0010701 biolink:PhenotypicFeature Abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood. UMLS:C1855755 hp.json Abnormal serum immunoglobulin levels|Abnormal serum immunoglobulin concentration|Abnormal serum level of immunoglobulin|Immunoglobulin abnormality|Abnormal immunoglobulin concentration http://purl.obolibrary.org/obo/HP_0010701 HP:0009701 biolink:PhenotypicFeature Metacarpal synostosis Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). UMLS:C4021398 hp.json Synostosis involving metacarpal bones|Fused long bones of hand|Synostosis involving the metacarpal bones http://purl.obolibrary.org/obo/HP_0009701 hposlim_core HP:0009704 biolink:PhenotypicFeature Chronic CSF lymphocytosis Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. UMLS:C4024229 hp.json Chronic cerebrospinal fluid lymphocytosis http://purl.obolibrary.org/obo/HP_0009704 HP:0010700 biolink:PhenotypicFeature obsolete Total cataract hp.json http://purl.obolibrary.org/obo/HP_0010700 HP:0009703 biolink:PhenotypicFeature Synostosis involving the 1st metacarpal Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4021397 hp.json First metacarpophalangeal joint synostosis|Fusion involving 1st long bone of hand|Symphalangism affecting the 1st metacarpal http://purl.obolibrary.org/obo/HP_0009703 HP:0009700 biolink:PhenotypicFeature Finger symphalangism An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. UMLS:C4021399 hp.json Synostosis involving bones of the fingers|Fused finger bones|Symphalangism of the hand http://purl.obolibrary.org/obo/HP_0009700 HP:0010709 biolink:PhenotypicFeature 2-4 finger syndactyly Syndactyly with fusion of the fingers two to four. UMLS:C4021236 hp.json Webbed index through ring fingers|Syndactyly of second to fourth fingers http://purl.obolibrary.org/obo/HP_0010709 HP:0010708 biolink:PhenotypicFeature 1-5 finger syndactyly Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand). UMLS:C4023728 hp.json Webbed 1-5 fingers|Webbed 1st-5th fingers http://purl.obolibrary.org/obo/HP_0010708 HP:0010707 biolink:PhenotypicFeature 1-4 finger syndactyly Syndactyly with fusion of fingers one to four. UMLS:C4023729 hp.json Webbed 1st-4th finger http://purl.obolibrary.org/obo/HP_0010707 HP:0009717 biolink:PhenotypicFeature Cortical tubers Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. UMLS:C1968959 hp.json http://purl.obolibrary.org/obo/HP_0009717 HP:0009716 biolink:PhenotypicFeature Subependymal nodules Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. UMLS:C1968958 hp.json http://purl.obolibrary.org/obo/HP_0009716 HP:0009719 biolink:PhenotypicFeature Hypomelanotic macule Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. UMLS:C4024220 hp.json Hypomelanotic macules http://purl.obolibrary.org/obo/HP_0009719 HP:0009718 biolink:PhenotypicFeature Subependymal giant-cell astrocytoma A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. SNOMEDCT_US:449799008|MSH:D001254|SNOMEDCT_US:1586004|UMLS:C0205768 hp.json http://purl.obolibrary.org/obo/HP_0009718 HP:0009713 biolink:PhenotypicFeature Spinal hemangioblastoma A hemangioblastoma of the spinal cord. NCIT:C3801|UMLS:C4024223 hp.json http://purl.obolibrary.org/obo/HP_0009713 HP:0009715 biolink:PhenotypicFeature Papillary cystadenoma of the epididymis A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. NCIT:C2974|UMLS:C4024221 hp.json http://purl.obolibrary.org/obo/HP_0009715 HP:0009714 biolink:PhenotypicFeature Abnormal epididymis morphology An abnormality of the epididymis. UMLS:C4024222 hp.json Abnormality of the epididymis http://purl.obolibrary.org/obo/HP_0009714 HP:0009711 biolink:PhenotypicFeature Retinal capillary hemangioma A benign vascular tumor of the retina without any neoplastic characteristics. NCIT:C3801|UMLS:C1514915|UMLS:C0730303|SNOMEDCT_US:312935003 hp.json Retinal hemangioblastoma http://purl.obolibrary.org/obo/HP_0009711 hposlim_core HP:0009710 biolink:PhenotypicFeature Chilblains Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. UMLS:C4024224 hp.json Chilblain lesions http://purl.obolibrary.org/obo/HP_0009710 CHEBI:50341 biolink:ChemicalSubstance 1-hydroxyethyl group hp.json 1-hydroxyethyl|threonine side-chain http://purl.obolibrary.org/obo/CHEBI_50341 3_STAR CHEBI:50340 biolink:ChemicalSubstance 3-carbamimidamidopropyl group hp.json 3-(carbamimidoylamino)propyl|3-carbamimidamidopropyl|arginine side-chain|3-guanidinopropyl http://purl.obolibrary.org/obo/CHEBI_50340 3_STAR CHEBI:50336 biolink:ChemicalSubstance 4-hydroxybenzyl group hp.json tyrosine side-chain|4-hydroxybenzyl http://purl.obolibrary.org/obo/CHEBI_50336 3_STAR CHEBI:50339 biolink:ChemicalSubstance 4-aminobutyl group hp.json 4-aminobutyl|lysine side-chain http://purl.obolibrary.org/obo/CHEBI_50339 3_STAR CHEBI:50338 biolink:ChemicalSubstance 1H-imidazol-4-ylmethyl group hp.json 1H-imidazol-4-ylmethyl|histidine side-chain http://purl.obolibrary.org/obo/CHEBI_50338 3_STAR UBERON:0002956 biolink:AnatomicalEntity granular layer of cerebellar cortex The granular layer is the innermost layer of the cerebellar cortex. This layer contains densely packed small neurons, mostly granule cells. Some Golgi cells are found at the outer border. Granule neurons send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites. Mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons at cerebellar glomeruli in the granule cell layer. BIRNLEX:779|NCIT:C49138|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=363|EMAPA:35217|BTO:0004425|CALOHA:TS-1247|FMA:83140|UMLS:C1708253|MA:0000993|MBA:1143 hp.json cerebellar granular layer|stratum granulosum cerebelli|stratum granulosum corticis cerebelli|granule cell layer of cerebellar cortex|cerebellum granule layer|cerebellar granule cell layer|cerebellum granule cell layer|granular layer of cerebellum|cerebellar granule layer http://purl.obolibrary.org/obo/UBERON_0002956 pheno_slim CHEBI:50337 biolink:ChemicalSubstance 1H-indol-3-ylmethyl group hp.json tryptophan side-chain|1H-indol-3-ylmethyl http://purl.obolibrary.org/obo/CHEBI_50337 3_STAR HP:0010764 biolink:PhenotypicFeature Short eyelashes Decreased length of the eyelashes (subjective). UMLS:C2748682 hp.json Short eyelashes|Decreased length of eyelashes http://purl.obolibrary.org/obo/HP_0010764 HP:0010763 biolink:PhenotypicFeature Low insertion of columella Insertion of the posterior columella below the nasal base. UMLS:C4021229|UMLS:C4280364 hp.json Columella, low insertion|Ala higher than columella http://purl.obolibrary.org/obo/HP_0010763 hposlim_core HP:0010762 biolink:PhenotypicFeature Chordoma A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. SNOMEDCT_US:50007008|MSH:D002817|NCIT:C2947|UMLS:C0008487 hp.json http://purl.obolibrary.org/obo/HP_0010762 HP:0010761 biolink:PhenotypicFeature Broad columella Increased width of the columella. UMLS:C1851059|UMLS:C4280365 hp.json Fullness of columella|Hyperplasia of columella|Increased width of columella|Columella, wide|Columella, broad http://purl.obolibrary.org/obo/HP_0010761 hposlim_core HP:0010760 biolink:PhenotypicFeature Absent toe Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. UMLS:C3553754 hp.json Absent toes|Aplasia of toe|Absent toe|Aplasia of the toes http://purl.obolibrary.org/obo/HP_0010760 hposlim_core CHEBI:25375 biolink:ChemicalSubstance monoamine molecular messenger A group of neurotransmitters and neuromodulators that contain one amino group that is connected to an aromatic ring by ethylene group (-CH2-CH2-). Monoamines are derived from the aromatic amino acids phenylalanine, tyrosine, histidine and tryptophan. hp.json monoamines|monamines http://purl.obolibrary.org/obo/CHEBI_25375 3_STAR HP:0007109 biolink:PhenotypicFeature Periventricular cysts UMLS:C1839858 hp.json http://purl.obolibrary.org/obo/HP_0007109 HP:0010769 biolink:PhenotypicFeature Pilonidal sinus A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris. SNOMEDCT_US:47639008|MSH:D010864|UMLS:C0031925 hp.json Pilonidal cyst http://purl.obolibrary.org/obo/HP_0010769 hposlim_core HP:0007105 biolink:PhenotypicFeature Infantile encephalopathy Encephalopathy with onset in the infantile period. UMLS:C1856408 hp.json http://purl.obolibrary.org/obo/HP_0007105 HP:0009768 biolink:PhenotypicFeature Broad phalanges of the hand Increased width of the phalanges of the hand. UMLS:C4021391 hp.json Widening of phalanges of the hand|Wide hand bones http://purl.obolibrary.org/obo/HP_0009768 HP:0010767 biolink:PhenotypicFeature Sacrococcygeal pilonidal abnormality The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. UMLS:C4023709 hp.json http://purl.obolibrary.org/obo/HP_0010767 HP:0009767 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the hand Small or missing phalangeal bones of the fingers of the hand. UMLS:C1848670 hp.json Aplastic/hypoplastic phalanges of the hand|Aplastic/hypoplastic phalanges|Hypoplastic/absent phalanges http://purl.obolibrary.org/obo/HP_0009767 HP:0010766 biolink:PhenotypicFeature Ectopic calcification Deposition of calcium salts in a tissue or location in which calcification does not normally occur. UMLS:C3806226 hp.json http://purl.obolibrary.org/obo/HP_0010766 HP:0007107 biolink:PhenotypicFeature Segmental peripheral demyelination A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. UMLS:C4024938 hp.json http://purl.obolibrary.org/obo/HP_0007107 HP:0010765 biolink:PhenotypicFeature Palmar hyperkeratosis Abnormal thickening of the skin localized to the palm of the hand. UMLS:C4023710 hp.json http://purl.obolibrary.org/obo/HP_0010765 HP:0009769 biolink:PhenotypicFeature Bullet-shaped phalanges of the hand The presence of short and wide phalanges which taper distally ("bullet shaped"). UMLS:C1854952 hp.json Bullet-shaped hand bones|Bullet-shaped phalanges of the hands|Conical bullet-shaped distal ends of phalanges http://purl.obolibrary.org/obo/HP_0009769 HP:0007108 biolink:PhenotypicFeature Demyelinating peripheral neuropathy Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. UMLS:C0270922|SNOMEDCT_US:23414001 hp.json http://purl.obolibrary.org/obo/HP_0007108 HP:0009763 biolink:PhenotypicFeature Limb pain Chronic pain in the limbs with no clear focal etiology. UMLS:C0030196|SNOMEDCT_US:90834002 hp.json Limb pain|Pain in extremities http://purl.obolibrary.org/obo/HP_0009763 HP:0007103 biolink:PhenotypicFeature Hypointensity of cerebral white matter on MRI A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. UMLS:C4020908 hp.json White matter hypointensities on MRI http://purl.obolibrary.org/obo/HP_0007103 HP:0009765 biolink:PhenotypicFeature Low hanging columella Columella extending inferior to the level of the nasal base, when viewed from the side. UMLS:C1856119|UMLS:C4280395 hp.json Low-hanging columella|Rounded columella|Prominent columella|Extension of the columella below the ala nasi|Columella extends below the ala nasi|Columella, low hanging|Columella, low http://purl.obolibrary.org/obo/HP_0009765 HP:0007104 biolink:PhenotypicFeature Prolonged somatosensory evoked potentials UMLS:C4024939 hp.json http://purl.obolibrary.org/obo/HP_0007104 HP:0009760 biolink:PhenotypicFeature Antecubital pterygium Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. MSH:C566738|UMLS:C1867439 hp.json Webbed elbow|Pterygium cubitale http://purl.obolibrary.org/obo/HP_0009760 hposlim_core CHEBI:50331 biolink:ChemicalSubstance 3-amino-3-oxopropyl group hp.json glutamine side-chain|3-amino-3-oxopropyl http://purl.obolibrary.org/obo/CHEBI_50331 3_STAR HP:0009762 biolink:PhenotypicFeature Facial wrinkling Excessive wrinkling of the skin of the face. SNOMEDCT_US:248194004|UMLS:C0262478 hp.json Facial wrinkling http://purl.obolibrary.org/obo/HP_0009762 CHEBI:50330 biolink:ChemicalSubstance 2-amino-2-oxoethyl group hp.json asparagine side-chain|2-amino-2-oxoethyl http://purl.obolibrary.org/obo/CHEBI_50330 3_STAR BSPO:0005001 biolink:NamedThing intersects midsagittal plane of X intersects median plane of iff X crosses the midine plane of Y. BSPO:0005001 hp.json http://purl.obolibrary.org/obo/BSPO_0005001 HP:0009761 biolink:PhenotypicFeature Anterior clefting of vertebral bodies Anterior schisis (cleft or cleavage) of vertebral bodies. UMLS:C1849579 hp.json http://purl.obolibrary.org/obo/HP_0009761 CHEBI:64909 biolink:ChemicalSubstance poison Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. Wikipedia:Poison hp.json poisonous substances|toxic substances|toxic agent|poisons|poisonous agent|poisonous agents|toxic substance|toxic agents|poisonous substance http://purl.obolibrary.org/obo/CHEBI_64909 3_STAR HP:0007100 biolink:PhenotypicFeature Progressive ventriculomegaly UMLS:C1865119 hp.json http://purl.obolibrary.org/obo/HP_0007100 CHEBI:50325 biolink:ChemicalSubstance proteinogenic amino-acid side-chain group A univalent organyl group obtained by cleaving the bond from C-2 to the side chain of a proteinogenic amino-acid. hp.json canonical amino-acid side-chain|canonical amino-acid side-chains|proteinogenic amino-acid side-chain|proteinogenic amino-acid side-chain groups|proteinogenic amino-acid side-chains http://purl.obolibrary.org/obo/CHEBI_50325 3_STAR HP:0009780 biolink:PhenotypicFeature Iliac horns Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. SNOMEDCT_US:84308008|UMLS:C0263925 hp.json http://purl.obolibrary.org/obo/HP_0009780 CHEBI:50329 biolink:ChemicalSubstance 2-carboxyethyl group hp.json 2-carboxyethyl|glutamic acid side-chain http://purl.obolibrary.org/obo/CHEBI_50329 3_STAR CHEBI:50326 biolink:ChemicalSubstance sulfanylmethyl group hp.json -CH2-SH|HS-CH2-|sulfanylmethyl|cysteine side-chain http://purl.obolibrary.org/obo/CHEBI_50326 3_STAR HP:0010753 biolink:PhenotypicFeature Midline defect of mandible UMLS:C4023714 hp.json Midline cleft of mandible http://purl.obolibrary.org/obo/HP_0010753 UBERON:0014930 biolink:AnatomicalEntity perivascular space The space between a blood vessel and the pia mater. NCIT:C83196 hp.json VRS|Virchow-Robin space|perivascular region|perivascular spaces http://purl.obolibrary.org/obo/UBERON_0014930 pheno_slim HP:0010752 biolink:PhenotypicFeature Cleft mandible Midline deficiency of the mandible and some or all overlying tissues. SNOMEDCT_US:92822004|UMLS:C0685786 hp.json Cleft lower jaw|Mandibular cleft http://purl.obolibrary.org/obo/HP_0010752 hposlim_core HP:0010751 biolink:PhenotypicFeature Dimple chin A persistent midline depression of the skin over the fat pad of the chin. UMLS:C1849227 hp.json Chin skin dimple|Chin dent|Indentation of chin|Gelasin of chin|Dimple chin|Chin butt|Chin dimple|Chin dimples http://purl.obolibrary.org/obo/HP_0010751 hposlim_core HP:0010750 biolink:PhenotypicFeature Dermatochalasis Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. UMLS:C2674149|SNOMEDCT_US:246815009|UMLS:C0423124 hp.json Hooding of eyelids|Baggy eyes|Eyelid dermatochalasia|Extra eyelid skin|Redundant eyelid skin|Droopy eyelid skin http://purl.obolibrary.org/obo/HP_0010750 CHEBI:25384 biolink:ChemicalSubstance monocarboxylic acid An oxoacid containing a single carboxy group. hp.json monocarboxylic acids http://purl.obolibrary.org/obo/CHEBI_25384 3_STAR HP:0010759 biolink:PhenotypicFeature Prominence of the premaxilla Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. UMLS:C2749369 hp.json Prominent premaxilla|Prominence of the intermaxillary bone|Prominence of the primary palate bone|Anterior position of the primary palate bone|Premaxillary bone excess|Anterior position of the premaxilla http://purl.obolibrary.org/obo/HP_0010759 hposlim_core HP:0010758 biolink:PhenotypicFeature Abnormality of the premaxilla An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate. UMLS:C4023711 hp.json Abnormality of the intermaxillary bone|Abnormality of the intermaxillary segment of the maxilla|Abnormality of the premaxillary bone|Abnormality of the primary palate bone http://purl.obolibrary.org/obo/HP_0010758 HP:0009779 biolink:PhenotypicFeature 3-4 toe syndactyly Syndactyly with fusion of toes three and four. UMLS:C1834062 hp.json syndactyly of 3rd - 4th toes|Webbed 3rd-4th toes http://purl.obolibrary.org/obo/HP_0009779 HP:0010757 biolink:PhenotypicFeature Aplasia of the premaxilla Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. UMLS:C4023712 hp.json Absence of the premaxilla|Failure of development of premaxilla|Absence of the primary palate bone|Absence of the intermaxillary bone|Missing primary palate bone|Missing premaxilla|Aplasia of the primary palate bone|Failure of development of the primary palate bone|Aplasia of the intermaxillary bone http://purl.obolibrary.org/obo/HP_0010757 HP:0009778 biolink:PhenotypicFeature Short thumb Hypoplasia (congenital reduction in size) of the thumb. SNOMEDCT_US:253936008|UMLS:C0431890|MSH:C536903 hp.json Thumb brachydactyly|Short thumb|Short thumbs|Hypoplastic thumb|Thumb hypoplasia|Hypoplastic/small thumb|Hypoplastic thumbs|Small thumbs http://purl.obolibrary.org/obo/HP_0009778 hposlim_core HP:0010756 biolink:PhenotypicFeature Aplasia/Hypoplasia of the premaxilla Absence or underdevelopment of the premaxilla. UMLS:C4023713 hp.json Aplasia/hypoplasia of the primary palate bone|Aplasia/hypoplasia of the intermaxillary bone http://purl.obolibrary.org/obo/HP_0010756 HP:0007117 biolink:PhenotypicFeature Corticospinal tract atrophy UMLS:C1838868 hp.json http://purl.obolibrary.org/obo/HP_0007117 HP:0010755 biolink:PhenotypicFeature Asymmetry of the maxilla Asymmetry between the left and right sides of the maxilla. SNOMEDCT_US:235083001|UMLS:C0399519 hp.json Unequal sides of maxilla|Tilted upper jaw|Tilted maxilla|Asymmetry of right and left side of the maxilla|Crooked maxilla|Deviation of the upper jaw|Canted upper jaw|Uneven upper jaw|Uneven maxilla|Canted maxilla|Crooked upper jaw|Asymmetry of the upper jaw|Asymmetry of upper jaw|Deviation of the maxilla http://purl.obolibrary.org/obo/HP_0010755 hposlim_core HP:0010754 biolink:PhenotypicFeature Abnormality of the temporomandibular joint An anomaly of the temporomandibular joint. SNOMEDCT_US:248401009|UMLS:C0266941|UMLS:C1865318|UMLS:C0424721|SNOMEDCT_US:75630004|UMLS:C4280366 hp.json Abnormality of the jaw joint|Deformity of the jaw joint|Malformation of jaw joint|Anomaly of the temporomandibular joint|Deformity of the temporomandibular joint|Derangement of the temporomandibular joint|Malformation of the temporomandibular joint http://purl.obolibrary.org/obo/HP_0010754 HP:0009775 biolink:PhenotypicFeature Amniotic constriction ring Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. UMLS:C0334166|UMLS:C1527388|MSH:D000652|SNOMEDCT_US:19988008|MSH:C535821|SNOMEDCT_US:238879003 hp.json Amniotic constriction band|Pseudoainhum|Congenital constriction band sequence|Amniotic bands http://purl.obolibrary.org/obo/HP_0009775 HP:0007112 biolink:PhenotypicFeature Temporal cortical atrophy Atrophy of the temporal cortex. UMLS:C4024936 hp.json http://purl.obolibrary.org/obo/HP_0007112 HP:0009774 biolink:PhenotypicFeature Triangular shaped phalanges of the hand UMLS:C2673397 hp.json Delta phalanx/delta-like phalanx|Triangular shaped hand bones http://purl.obolibrary.org/obo/HP_0009774 HP:0009777 biolink:PhenotypicFeature Absent thumb Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. UMLS:C3278811 hp.json Absent thumbs|Aplasia of the thumb|Absent thumb|Thumb aplasia http://purl.obolibrary.org/obo/HP_0009777 hposlim_core HP:0009776 biolink:PhenotypicFeature Adactyly The absence of all phalanges of all the digits of a limb and the associated soft tissues. SNOMEDCT_US:275348004|UMLS:C4280394|UMLS:C0238591|Fyler:4173 hp.json Absent fingers or toes|Aphalangy http://purl.obolibrary.org/obo/HP_0009776 hposlim_core PR:P06800 biolink:Protein receptor-type tyrosine-protein phosphatase C (mouse) A receptor-type tyrosine-protein phosphatase C that is encoded in the genome of mouse. UniProtKB:P06800 hp.json Ly-5|CD45 (mouse)|leukocyte common antigen (mouse)|lymphocyte antigen 5 (mouse)|mPTPRC|L-CA (mouse)|T200 (mouse)|Ptprc http://purl.obolibrary.org/obo/PR_P06800 HP:0007115 biolink:PhenotypicFeature Orbital encephalocele SNOMEDCT_US:15671007|UMLS:C0271330 hp.json http://purl.obolibrary.org/obo/HP_0007115 HP:0009771 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the hand Dissolution or degeneration of bone tissue of the phalanges of the hand. SNOMEDCT_US:63122002|MSH:D030981|SNOMEDCT_US:27201004|UMLS:C0917990 hp.json Acroosteolysis|Acro-osteolysis|Breakdown of small bones of fingers http://purl.obolibrary.org/obo/HP_0009771 CHEBI:50320 biolink:ChemicalSubstance nucleoside residue hp.json nucleoside residues http://purl.obolibrary.org/obo/CHEBI_50320 3_STAR HP:0009770 biolink:PhenotypicFeature Curved phalanges of the hand UMLS:C4024211 hp.json Curved hand bones http://purl.obolibrary.org/obo/HP_0009770 HP:0009773 biolink:PhenotypicFeature Symphalangism affecting the phalanges of the hand Fusion of two or more phalangeal bones of the hand. UMLS:C4021390 hp.json Fused finger bones of the hand|Synostosis involving phalanges of the hand http://purl.obolibrary.org/obo/HP_0009773 HP:0007110 biolink:PhenotypicFeature Central hypoventilation UMLS:C3805839 hp.json http://purl.obolibrary.org/obo/HP_0007110 HP:0007111 biolink:PhenotypicFeature Chronic hepatic encephalopathy UMLS:C4024937 hp.json http://purl.obolibrary.org/obo/HP_0007111 HP:0009772 biolink:PhenotypicFeature Patchy sclerosis of finger phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. UMLS:C1857508 hp.json Uneven increase in bone density in finger bone|Phalangeal sclerosis|Patchy sclerosis of the phalanges of the hand http://purl.obolibrary.org/obo/HP_0009772 CHEBI:50313 biolink:ChemicalSubstance onium cation Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. hp.json onium cations|onium cations|onium ion|onium ions http://purl.obolibrary.org/obo/CHEBI_50313 3_STAR CHEBI:50312 biolink:ChemicalSubstance onium compound hp.json http://purl.obolibrary.org/obo/CHEBI_50312 1_STAR CHEBI:25355 biolink:ChemicalSubstance mitochondrial respiratory-chain inhibitor hp.json mitochondrial electron transport chain inhibitors|mitochondrial respiratory chain inhibitors|mitochondrial electron-transport chain inhibitor http://purl.obolibrary.org/obo/CHEBI_25355 3_STAR UBERON:2007013 biolink:AnatomicalEntity preplacodal ectoderm Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. ZFA:0007013 hp.json http://purl.obolibrary.org/obo/UBERON_2007013 CHEBI:50315 biolink:ChemicalSubstance chloronium Gmelin:331 hp.json H2Cl(+)|chloranium|chloronium|[ClH2](+) http://purl.obolibrary.org/obo/CHEBI_50315 3_STAR HP:0010742 biolink:PhenotypicFeature Edema of the upper limbs An abnormal accumulation of fluid beneath the skin of the arms. UMLS:C0522035|SNOMEDCT_US:102558002 hp.json Fluid accumulation in upper limbs|Oedema of the upper limbs http://purl.obolibrary.org/obo/HP_0010742 HP:0010741 biolink:PhenotypicFeature Pedal edema An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. SNOMEDCT_US:102572006|UMLS:C0239340|UMLS:C0235886 hp.json Fluid accumulation in lower limbs|Pedal oedema|Dependant edema|Edema of the lower limbs|Oedema of the lower limbs|Peripheral oedema of lower extremity|Leg oedema|Dependant oedema|Lower leg swelling|Leg edema|Peripheral edema of lower extremity http://purl.obolibrary.org/obo/HP_0010741 HP:0010740 biolink:PhenotypicFeature Osteopathia striata A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. UMLS:C0265513|SNOMEDCT_US:82663009 hp.json http://purl.obolibrary.org/obo/HP_0010740 CHEBI:50319 biolink:ChemicalSubstance nucleotide residue hp.json nucleotide residues http://purl.obolibrary.org/obo/CHEBI_50319 3_STAR CHEBI:25354 biolink:ChemicalSubstance mineralocorticoid Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. hp.json mineralocorticoids http://purl.obolibrary.org/obo/CHEBI_25354 3_STAR CHEBI:49323 biolink:ChemicalSubstance contraceptive drug A chemical substance that prevents or reduces the probability of conception. hp.json contraceptive agent|contraceptive drugs http://purl.obolibrary.org/obo/CHEBI_49323 3_STAR HP:0010749 biolink:PhenotypicFeature Blepharochalasis Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. UMLS:C0005742|SNOMEDCT_US:47704002 hp.json Saggy upper eyelid skin http://purl.obolibrary.org/obo/HP_0010749 hposlim_core HP:0010748 biolink:PhenotypicFeature Ectopic lacrimal punctum Positioning of a lacrimal punctum other than at the medial margins of the eyelid. UMLS:C4021230 hp.json Abnormal position of the lacrimal punctum http://purl.obolibrary.org/obo/HP_0010748 hposlim_core HP:0010747 biolink:PhenotypicFeature Medial flaring of the eyebrow An abnormal distribution of eyebrow hair growth in the medial direction. UMLS:C1844562 hp.json Medially flared eyebrows http://purl.obolibrary.org/obo/HP_0010747 hposlim_core HP:0009746 biolink:PhenotypicFeature Thick nasal septum Abnormally increased thickness of the nasal septum. UMLS:C1844810 hp.json Broad septum of nose|Wide septum of nose|Thick nasal septum|Broad nasal septum|Wide nasal septum|Thick septum of nose http://purl.obolibrary.org/obo/HP_0009746 HP:0010746 biolink:PhenotypicFeature Hypoplasia of the phalanges of the toes UMLS:C4023715 hp.json Small toe bones http://purl.obolibrary.org/obo/HP_0010746 HP:0009745 biolink:PhenotypicFeature Spinal arachnoid cyst Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. UMLS:C4021393 hp.json Epidural arachnoid cysts of the spinal canal http://purl.obolibrary.org/obo/HP_0009745 HP:0010745 biolink:PhenotypicFeature Aplasia of the phalanges of the toes Absence of a digit or of one or more phalanges of a toe. UMLS:C4021231 hp.json Absent bones of the toes|Aphalangia of the toes http://purl.obolibrary.org/obo/HP_0010745 HP:0009748 biolink:PhenotypicFeature Large earlobe Increased volume of the earlobe, that is, abnormally prominent ear lobules. UMLS:C1844573 hp.json Prominent ear lobes|Large earlobe|Fleshy earlobes|Fleshy earlobe|Prominent ear lobules http://purl.obolibrary.org/obo/HP_0009748 hposlim_core HP:0010744 biolink:PhenotypicFeature Absent metatarsal bone A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. UMLS:C4021232 hp.json Absent long bone of foot|Aplasia of the metatarsal bones http://purl.obolibrary.org/obo/HP_0010744 HP:0010743 biolink:PhenotypicFeature Short metatarsal Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. UMLS:C1849020 hp.json Hypoplastic metatarsals|Short long bone of foot|Short metatarsal bone|Short metatarsals|Short metatarsal bones|Hypoplasia of the metatarsal bones|Shortened metatarsals http://purl.obolibrary.org/obo/HP_0010743 hposlim_core HP:0009747 biolink:PhenotypicFeature Lumbosacral hirsutism Abnormally increased hair growth in the lumbosacral region. UMLS:C1851095 hp.json http://purl.obolibrary.org/obo/HP_0009747 HP:0009742 biolink:PhenotypicFeature Stiff shoulders Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. UMLS:C0241042|SNOMEDCT_US:249918006 hp.json Stiff shoulders http://purl.obolibrary.org/obo/HP_0009742 HP:0009741 biolink:PhenotypicFeature Nephrosclerosis Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. SNOMEDCT_US:32916005|MSH:D009400|UMLS:C0027719 hp.json Scarring of kidney arteries|Thickening of kidney artiries http://purl.obolibrary.org/obo/HP_0009741 HP:0009744 biolink:PhenotypicFeature Abnormal spinal dura mater morphology An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord. UMLS:C4024214 hp.json Abnormality of the spinal dura mater http://purl.obolibrary.org/obo/HP_0009744 HP:0009743 biolink:PhenotypicFeature Distichiasis Double rows of eyelashes. SNOMEDCT_US:95339000|UMLS:C0423848 hp.json Distichiasis of eyelid eyelashes http://purl.obolibrary.org/obo/HP_0009743 hposlim_core HP:0009740 biolink:PhenotypicFeature Aplasia of the parotid gland Absence of the parotid gland. UMLS:C4020779|UMLS:C1400252|UMLS:C4024215 hp.json Abnormally small parotid gland|Hypoplasia of parotid gland|Absence of the parotid gland|Underdevelopment of parotid gland http://purl.obolibrary.org/obo/HP_0009740 UBERON:0002926 biolink:AnatomicalEntity gustatory epithelium A sensory epithelium that is part of a gustatory system. FMA:62412|http://uri.neuinfo.org/nif/nifstd/nifext_12 hp.json http://purl.obolibrary.org/obo/UBERON_0002926 UBERON:0002925 biolink:AnatomicalEntity trigeminal nucleus A nucleus of brain that is part of a trigeminal nuclear complex. EV:0100271|EMAPA:35883|VHOG:0001353|BTO:0001074|MA:0001028|CALOHA:TS-2077|FMA:71247|UMLS:C0040999|BM:V|MESH:D014278|SCTID:280164007|http://uri.neuinfo.org/nif/nifstd/nifext_11|NCIT:C12807|GAID:604 hp.json nucleus tractus mesencephali nervi trigeminalis|nucleus mesencephalicus nervi trigemini|trigeminal V nucleus|nucleus of trigeminal nuclear complex|trigeminal nucleus|nucleus mesencephalicus trigeminalis|trigeminal nuclear complex nucleus http://purl.obolibrary.org/obo/UBERON_0002925 uberon_slim UBERON:0002928 biolink:AnatomicalEntity dentate gyrus polymorphic layer A cellular layer of the dentate gyrus enclosed by the granule cell layer. A number of cell types are located in the polymorphic layer but the most prominent is the mossy cell. BIRNLEX:4128|MBA:10704|MA:0002864|NLX:42439|EMAPA:35280|BAMS:PoDG|BAMS:po hp.json CA4|polymorph layer of the dentate gyrus http://purl.obolibrary.org/obo/UBERON_0002928 CHEBI:25367 biolink:ChemicalSubstance molecule Any polyatomic entity that is an electrically neutral entity consisting of more than one atom. hp.json molecula|neutral molecular compounds|molecules|molecule|Molekuel http://purl.obolibrary.org/obo/CHEBI_25367 3_STAR UBERON:0002921 biolink:AnatomicalEntity longitudinal fissure The deep groove which separates the two hemispheres of the vertebrate brain. The falx cerebri, a dural brain covering, lies within the medial longitudinal fissure. [WP,unvetted]. OpenCyc:Mx4rwJlWu5wpEbGdrcN5Y29ycA|UMLS:C0228186|DHBA:10622|HBA:9401|BAMS:lf|NCIT:C33005|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=35|UMLS:C0228186|BAMS:lfh|BIRNLEX:4041|FMA:83727 hp.json sagittal fissure|fissura interhemispherica|longitudinal cerebral fissure|fissura longitudinalis magna|hemispheric sulcus|fissura longitudinalis cerebri|LF|longitudinal fissure of the cerebrum|fissura longitudinalis cerebrales|longitudinal fissure of hemisphere|medial longitudinal fissure|interhemispheric fissure|longitudinal sulcus http://purl.obolibrary.org/obo/UBERON_0002921 pheno_slim|uberon_slim HP:0010731 biolink:PhenotypicFeature Extension of eyebrows towards upper eyelid The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid. UMLS:C4023717 hp.json Extension of eyebrows towards upper eyelid http://purl.obolibrary.org/obo/HP_0010731 HP:0010730 biolink:PhenotypicFeature Double eyebrow This may present as a partial or complete duplication of the eyebrows. SNOMEDCT_US:253209004|UMLS:C0431449 hp.json Double eyebrow|Duplication of eyebrow http://purl.obolibrary.org/obo/HP_0010730 hposlim_core CHEBI:25362 biolink:ChemicalSubstance elemental molecule A molecule all atoms of which have the same atomic number. hp.json homoatomic molecule|homoatomic molecules http://purl.obolibrary.org/obo/CHEBI_25362 3_STAR HP:0010739 biolink:PhenotypicFeature Osteopoikilosis Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake. SNOMEDCT_US:9147009|UMLS:C0029455|MSH:D010023 hp.json http://purl.obolibrary.org/obo/HP_0010739 HP:0010736 biolink:PhenotypicFeature Monostotic fibrous dysplasia Fibrous dysplasia of the bones were lesions are localized in only one bone. UMLS:C0016064|SNOMEDCT_US:89859004|MSH:D005358 hp.json http://purl.obolibrary.org/obo/HP_0010736 UBERON:0014907 biolink:AnatomicalEntity intersomitic vessel One of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites. ZFA:0001285|EMAPA:37389|TAO:0001285|XAO:0004075|EFO:0003664 hp.json segmental vessel|intersomitic vessels|intersomitic blood vessel|intersegmental vessel|intersegmental vessels http://purl.obolibrary.org/obo/UBERON_0014907 pheno_slim HP:0009757 biolink:PhenotypicFeature Intercrural pterygium A pterygium (or pterygia) in the intercrural (groin) region. UMLS:C3810471 hp.json http://purl.obolibrary.org/obo/HP_0009757 HP:0010735 biolink:PhenotypicFeature Polyostotic fibrous dysplasia Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome. SNOMEDCT_US:36517007|UMLS:C0016065|MSH:D005359 hp.json http://purl.obolibrary.org/obo/HP_0010735 HP:0009756 biolink:PhenotypicFeature Popliteal pterygium A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). UMLS:C3805420 hp.json http://purl.obolibrary.org/obo/HP_0009756 hposlim_core HP:0010734 biolink:PhenotypicFeature Fibrous dysplasia of the bones Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). SNOMEDCT_US:10623005|UMLS:C0016063|MSH:D005357 hp.json http://purl.obolibrary.org/obo/HP_0010734 HP:0009759 biolink:PhenotypicFeature Neck pterygia Pterygia affecting the neck. UMLS:C1849577 hp.json Neck pterygium http://purl.obolibrary.org/obo/HP_0009759 HP:0010733 biolink:PhenotypicFeature Naevus flammeus of the eyelid Naevus flammeus localised in the skin of the eyelid. UMLS:C1854409 hp.json Port-wine stain on eyelid http://purl.obolibrary.org/obo/HP_0010733 UBERON:0014903 biolink:AnatomicalEntity primordial vasculature A portion of tissue that will develop into vasculature. TAO:0005076|EFO:0003708|ZFA:0005076 hp.json http://purl.obolibrary.org/obo/UBERON_0014903 HP:0010732 biolink:PhenotypicFeature Nodular changes affecting the eyelids Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. UMLS:C4023716 hp.json Eyelid nodules http://purl.obolibrary.org/obo/HP_0010732 HP:0009758 biolink:PhenotypicFeature Pyramidal skinfold extending from the base to the top of the nails Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. UMLS:C4024212 hp.json http://purl.obolibrary.org/obo/HP_0009758 HP:0009752 biolink:PhenotypicFeature Cleft in skull base A bony defect in the skull base. UMLS:C1856027 hp.json Cleft in cranial base|Cleft in skull base http://purl.obolibrary.org/obo/HP_0009752 HP:0009755 biolink:PhenotypicFeature Ankyloblepharon Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. SNOMEDCT_US:400952003|UMLS:C0339182|SNOMEDCT_US:193953008|MSH:C536373|UMLS:C1302999 hp.json Ankyloblepharon filiforme adnatum|Eyelids stuck together|Adhesion of eyelids|Eyelid synechiae http://purl.obolibrary.org/obo/HP_0009755 hposlim_core HP:0009754 biolink:PhenotypicFeature Fibrous syngnathia Complete or nearly complete soft tissue fusion of the alveolar ridges. UMLS:C4021392 hp.json Alveolar synechiae|Fusion of the alveolar ridges http://purl.obolibrary.org/obo/HP_0009754 hposlim_core HP:0009751 biolink:PhenotypicFeature Aplasia of the pectoralis major muscle Absence of the pectoralis major muscle. UMLS:C4024213 hp.json Absent pectoralis major muscle http://purl.obolibrary.org/obo/HP_0009751 GO:0072330 biolink:BiologicalProcess monocarboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group. hp.json monocarboxylic acid biosynthesis|monocarboxylic acid anabolism|monocarboxylic acid synthesis|monocarboxylic acid formation http://purl.obolibrary.org/obo/GO_0072330 CL:0002427 biolink:Cell resting double-positive thymocyte A double-positive, alpha-beta thymocyte that is small and not proliferating. hp.json T.DP.sm.Th http://purl.obolibrary.org/obo/CL_0002427 GO:1902533 biolink:BiologicalProcess positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. hp.json activation of signal transduction via intracellular signaling cascade|up-regulation of signal transmission via intracellular cascade|up regulation of intracellular signal transduction|up regulation of intracellular signal transduction pathway|activation of intracellular signal transduction|upregulation of intracellular signaling chain|upregulation of intracellular signaling cascade|positive regulation of intracellular signal transduction pathway|up regulation of signal transmission via intracellular cascade|up-regulation of intracellular signaling pathway|positive regulation of signal transmission via intracellular cascade|up-regulation of signal transduction via intracellular signaling cascade|up regulation of intracellular signaling pathway|upregulation of intracellular signal transduction pathway|upregulation of intracellular signal transduction|activation of intracellular signal transduction pathway|positive regulation of intracellular signaling pathway|up regulation of signal transduction via intracellular signaling cascade|upregulation of signal transmission via intracellular cascade|up-regulation of intracellular signaling chain|up-regulation of intracellular signaling cascade|activation of signal transmission via intracellular cascade|activation of intracellular signaling cascade|positive regulation of signal transduction via intracellular signaling cascade|positive regulation of intracellular protein kinase cascade|up regulation of intracellular signaling chain|up regulation of intracellular signaling cascade|activation of intracellular signaling chain|upregulation of intracellular signaling pathway|activation of intracellular signaling pathway|positive regulation of intracellular signaling chain|up-regulation of intracellular signal transduction pathway|up-regulation of intracellular signal transduction|upregulation of signal transduction via intracellular signaling cascade|positive regulation of intracellular signaling cascade http://purl.obolibrary.org/obo/GO_1902533 CL:0002429 biolink:Cell CD69-positive double-positive thymocyte A double-positive thymocyte that is CD69-positive and has begun positive selection. hp.json T.DP69+.Th http://purl.obolibrary.org/obo/CL_0002429 CL:0002428 biolink:Cell double-positive blast A double-positive thymocyte that is large (i.e. has a high forward scatter signal in flow cytometry) and is actively proliferating. hp.json activated double-positive thymocyte|T.DPb.Th http://purl.obolibrary.org/obo/CL_0002428 GO:1902531 biolink:BiologicalProcess regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. hp.json regulation of intracellular signaling pathway|regulation of intracellular protein kinase cascade|regulation of intracellular signaling cascade|regulation of signal transduction via intracellular signaling cascade|regulation of intracellular signaling chain|regulation of intracellular signal transduction pathway|regulation of signal transmission via intracellular cascade http://purl.obolibrary.org/obo/GO_1902531 GO:1902532 biolink:BiologicalProcess negative regulation of intracellular signal transduction Any process that stops, prevents or reduces the frequency, rate or extent of intracellular signal transduction. hp.json downregulation of intracellular signaling cascade|down regulation of intracellular signaling pathway|downregulation of signal transmission via intracellular cascade|negative regulation of intracellular signaling chain|down-regulation of intracellular signaling chain|down regulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signaling cascade|down-regulation of signal transmission via intracellular cascade|inhibition of intracellular signal transduction pathway|downregulation of intracellular signaling pathway|down regulation of intracellular signaling chain|inhibition of signal transmission via intracellular cascade|inhibition of intracellular signaling cascade|downregulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signal transduction|negative regulation of intracellular signal transduction pathway|down-regulation of intracellular signal transduction pathway|inhibition of intracellular signaling chain|downregulation of intracellular signaling chain|inhibition of intracellular signaling pathway|negative regulation of signal transmission via intracellular cascade|down regulation of intracellular signal transduction|down regulation of intracellular signal transduction pathway|inhibition of signal transduction via intracellular signaling cascade|down regulation of signal transmission via intracellular cascade|down regulation of intracellular signaling cascade|inhibition of intracellular signal transduction|negative regulation of intracellular signaling pathway|down-regulation of intracellular signaling pathway|downregulation of intracellular signal transduction|negative regulation of intracellular protein kinase cascade|negative regulation of intracellular signaling cascade|downregulation of intracellular signal transduction pathway|negative regulation of signal transduction via intracellular signaling cascade|down-regulation of signal transduction via intracellular signaling cascade http://purl.obolibrary.org/obo/GO_1902532 GO:0060350 biolink:BiologicalProcess endochondral bone morphogenesis The process in which bones are generated and organized as a result of the conversion of initial cartilaginous anlage into bone. hp.json http://purl.obolibrary.org/obo/GO_0060350 GO:0060351 biolink:BiologicalProcess cartilage development involved in endochondral bone morphogenesis The process whose specific outcome is the progression of the cartilage that will provide a scaffold for mineralization of endochondral bones. hp.json http://purl.obolibrary.org/obo/GO_0060351 CL:0002421 biolink:Cell nucleated reticulocyte A reticulocyte that retains the nucleus and other organelles. Found in birds, fish, amphibians and reptiles. hp.json http://purl.obolibrary.org/obo/CL_0002421 CL:0002420 biolink:Cell immature T cell A T cell that has not completed T cell selection. CALOHA:TS-1042|BTO:0001372 hp.json immature T-cell http://purl.obolibrary.org/obo/CL_0002420 CL:0002422 biolink:Cell enucleated reticulocyte A reticulocyte lacking a nucleus and showing a basophilic reticulum under vital staining due to the presence of ribosomes. CALOHA:TS-0864|FMA:66785 hp.json http://purl.obolibrary.org/obo/CL_0002422 CL:0002425 biolink:Cell early T lineage precursor A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. hp.json ETP|preT.ETP.Th http://purl.obolibrary.org/obo/CL_0002425 GO:0060359 biolink:BiologicalProcess response to ammonium ion Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ammonium stimulus. hp.json response to ammonia http://purl.obolibrary.org/obo/GO_0060359 CL:0002437 biolink:Cell mature CD8 single-positive thymocyte A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. hp.json T.8SP24-.Th http://purl.obolibrary.org/obo/CL_0002437 GO:0060341 biolink:BiologicalProcess regulation of cellular localization Any process that modulates the frequency, rate or extent of a process in which a cell, a substance, or a cellular entity is transported to, or maintained in a specific location within or in the membrane of a cell. hp.json regulation of cellular localisation http://purl.obolibrary.org/obo/GO_0060341 CL:0002430 biolink:Cell CD4-intermediate, CD8-positive double-positive thymocyte A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD4 co-receptor. hp.json T.4int8+.Th|T_4int8+_Th http://purl.obolibrary.org/obo/CL_0002430 GO:0060343 biolink:BiologicalProcess trabecula formation The process of creating a trabecula in an organ. A trabecula is a small, often microscopic, tissue element in the form of a small beam, strut or rod, which generally has a mechanical function. Trabecula are usually but not necessarily, composed of dense collagenous tissue. hp.json trabecula biogenesis|trabeculation http://purl.obolibrary.org/obo/GO_0060343 CL:0002432 biolink:Cell CD24-positive, CD4 single-positive thymocyte A CD4-positive, CD8-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. hp.json T.4SP24int.Th|CD24-positive, CD4 single-positive semimature thymocyte http://purl.obolibrary.org/obo/CL_0002432 CL:0002431 biolink:Cell CD4-positive, CD8-intermediate double-positive thymocyte A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD8 co-receptor. hp.json T.4+8int.Th|T_4+8int_Th http://purl.obolibrary.org/obo/CL_0002431 CL:0002434 biolink:Cell CD24-positive, CD8 single-positive thymocyte A CD8-positive, CD4-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. hp.json T.8SP24int.Th|CD24-positive, CD8 single-positive semimature thymocyte http://purl.obolibrary.org/obo/CL_0002434 CL:0002433 biolink:Cell CD69-positive, CD4-positive single-positive thymocyte A CD4-positive, CD8-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. hp.json intermediate CD4-single-positive|T.4SP69+.Th http://purl.obolibrary.org/obo/CL_0002433 GO:0060348 biolink:BiologicalProcess bone development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. hp.json http://purl.obolibrary.org/obo/GO_0060348 CL:0002436 biolink:Cell mature CD4 single-positive thymocyte A mature CD4-positive, CD8-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. hp.json T.4SP24-.Th http://purl.obolibrary.org/obo/CL_0002436 CL:0002435 biolink:Cell CD69-positive, CD8-positive single-positive thymocyte A CD8-positive, CD4-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. hp.json intermediate CD8-single-positive|T.8SP69+.Th http://purl.obolibrary.org/obo/CL_0002435 GO:0060349 biolink:BiologicalProcess bone morphogenesis The process in which bones are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0060349 GO:0035372 biolink:BiologicalProcess protein localization to microtubule A process in which a protein is transported to, or maintained at, a microtubule. hp.json protein localisation to microtubule http://purl.obolibrary.org/obo/GO_0035372 GO:0098974 biolink:BiologicalProcess postsynaptic actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins in the postsynaptic actin cytoskeleton. hp.json http://purl.obolibrary.org/obo/GO_0098974 goslim_synapse GO:0098975 biolink:CellularComponent postsynapse of neuromuscular junction The postsynapse of a neuromuscular junction. In vertebrate muscles this includes the motor end-plate, consisting of postjunctional folds of the sarcolemma. hp.json http://purl.obolibrary.org/obo/GO_0098975 GO:0072350 biolink:BiologicalProcess tricarboxylic acid metabolic process The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing three carboxyl (COOH) groups or anions (COO-). hp.json tricarboxylic acid metabolism http://purl.obolibrary.org/obo/GO_0072350 GO:0060379 biolink:BiologicalProcess cardiac muscle cell myoblast differentiation The process in which a relatively unspecialized cell acquires specialized features of a cardiac myoblast. A cardiac myoblast is a precursor cell that has been committed to a cardiac muscle cell fate but retains the ability to divide and proliferate throughout life. hp.json myocardial precursor cell differentiation|cardiac myoblast differentiation http://purl.obolibrary.org/obo/GO_0060379 GO:0072359 biolink:BiologicalProcess circulatory system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. hp.json cardiovascular system development http://purl.obolibrary.org/obo/GO_0072359 goslim_drosophila GO:1902564 biolink:BiologicalProcess negative regulation of neutrophil activation Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil activation. hp.json down-regulation of neutrophil activation|down regulation of neutrophil activation|inhibition of neutrophil activation|downregulation of neutrophil activation http://purl.obolibrary.org/obo/GO_1902564 GO:1902565 biolink:BiologicalProcess positive regulation of neutrophil activation Any process that activates or increases the frequency, rate or extent of neutrophil activation. hp.json up regulation of neutrophil activation|activation of neutrophil activation|upregulation of neutrophil activation|up-regulation of neutrophil activation http://purl.obolibrary.org/obo/GO_1902565 CL:0002419 biolink:Cell mature T cell A T cell that expresses a T cell receptor complex and has completed T cell selection. hp.json mature T-cell|CD3epsilon T cell|CD3e-positive T cell http://purl.obolibrary.org/obo/CL_0002419 GO:0060363 biolink:BiologicalProcess cranial suture morphogenesis The process in which any suture between cranial bones is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0060363 GO:1902563 biolink:BiologicalProcess regulation of neutrophil activation Any process that modulates the frequency, rate or extent of neutrophil activation. hp.json http://purl.obolibrary.org/obo/GO_1902563 GO:1902570 biolink:BiologicalProcess protein localization to nucleolus A process in which a protein is transported to, or maintained in, a location within a nucleolus. hp.json protein localisation to nucleolus|protein localisation in nucleolus|protein localization in nucleolus http://purl.obolibrary.org/obo/GO_1902570 GO:0072348 biolink:BiologicalProcess sulfur compound transport The directed movement of compounds that contain sulfur, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json sulfur-containing compound transport http://purl.obolibrary.org/obo/GO_0072348 PR:P41159 biolink:Protein leptin (human) A leptin that is encoded in the genome of human. UniProtKB:P41159 hp.json OB|OBS|obesity factor (human)|hLEP|LEP|obese protein (human) http://purl.obolibrary.org/obo/PR_P41159 CHEBI:50299 biolink:ChemicalSubstance canonical ribonucleotide residue hp.json canonical ribonucleotide residues http://purl.obolibrary.org/obo/CHEBI_50299 3_STAR GO:0072378 biolink:BiologicalProcess blood coagulation, fibrin clot formation A protein activation cascade that contributes to blood coagulation and consists of the cascade of enzymatic reactions initiated by physical damage to the wall of a blood vessel, leading to the formation of a formation of a fibrin clot at the site of the injury. The process also includes numerous positive and negative regulatory events. hp.json http://purl.obolibrary.org/obo/GO_0072378 GO:0072377 biolink:BiologicalProcess blood coagulation, common pathway A protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. hp.json http://purl.obolibrary.org/obo/GO_0072377 CHEBI:50297 biolink:ChemicalSubstance canonical nucleotide residue hp.json canonical nucleotide residues http://purl.obolibrary.org/obo/CHEBI_50297 3_STAR GO:0072376 biolink:BiologicalProcess protein activation cascade A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. hp.json protein activitory cascade|protein activation pathway http://purl.obolibrary.org/obo/GO_0072376 GO:0072360 biolink:BiologicalProcess vascular cord development The progression of the vascular cord over time from its initial formation until its mature state. The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis. hp.json http://purl.obolibrary.org/obo/GO_0072360 HP:5000035 biolink:PhenotypicFeature Anti-TRIM46 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46). hp.json http://purl.obolibrary.org/obo/HP_5000035 HP:5000036 biolink:PhenotypicFeature Anti-TRIM9/TRIM67 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67. hp.json http://purl.obolibrary.org/obo/HP_5000036 HP:5000037 biolink:PhenotypicFeature Anti-Yo antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo. hp.json Anti-Purkinje cell cytoplasmic antibody 1 http://purl.obolibrary.org/obo/HP_5000037 HP:5000038 biolink:PhenotypicFeature Anti-titin antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin. hp.json http://purl.obolibrary.org/obo/HP_5000038 HP:5000039 biolink:PhenotypicFeature Anti-Zic4 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4). hp.json http://purl.obolibrary.org/obo/HP_5000039 HP:5000030 biolink:PhenotypicFeature Anti-Ri antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody. hp.json Anti-ANNA-2 antibody http://purl.obolibrary.org/obo/HP_5000030 HP:5000031 biolink:PhenotypicFeature Anti-Septin-5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5. hp.json http://purl.obolibrary.org/obo/HP_5000031 HP:5000032 biolink:PhenotypicFeature Anti-SEZ6L2 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2). hp.json http://purl.obolibrary.org/obo/HP_5000032 HP:5000033 biolink:PhenotypicFeature Anti-SOX1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells. hp.json Anti-Sry-like high mobility group box (SOX) 1 antibody http://purl.obolibrary.org/obo/HP_5000033 HP:5000034 biolink:PhenotypicFeature Anti-Tr/DNER antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr. hp.json Anti-delta/notch-like epidermal growth factor-related receptor antibody|PCA-Tr http://purl.obolibrary.org/obo/HP_5000034 GO:0098988 biolink:MolecularActivity G protein-coupled glutamate receptor activity Combining with glutamate and transmitting a signal from one side of the membrane to the other by activating an associated G-protein, initiating a change in cell activity. hp.json G-protein coupled glutamate receptor activity http://purl.obolibrary.org/obo/GO_0098988 GO:0072384 biolink:BiologicalProcess organelle transport along microtubule The directed movement of an organelle along a microtubule, mediated by motor proteins. This process begins with the attachment of an organelle to a microtubule, and ends when the organelle reaches its final destination. hp.json microtubule-based organelle localization http://purl.obolibrary.org/obo/GO_0072384 CHEBI:50267 biolink:ChemicalSubstance protective agent Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent. hp.json chemoprotectant|chemoprotectants|protective agents|chemoprotective agents|chemoprotective agent http://purl.obolibrary.org/obo/CHEBI_50267 3_STAR HP:5000046 biolink:PhenotypicFeature Anti-Lrp4 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4). hp.json Anti-low-density lipoprotein receptor-related protein 4 antibody http://purl.obolibrary.org/obo/HP_5000046 HP:5000047 biolink:PhenotypicFeature Anti-ryanodine receptor antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor. hp.json Anti-RyR antibody http://purl.obolibrary.org/obo/HP_5000047 HP:5000048 biolink:PhenotypicFeature Anti-Kv1.4 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4. hp.json http://purl.obolibrary.org/obo/HP_5000048 HP:5000041 biolink:PhenotypicFeature obsolete Anti-CRMP5 antibody positivity hp.json http://purl.obolibrary.org/obo/HP_5000041 HP:5000042 biolink:PhenotypicFeature Anti-Sj/ITPR1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor. hp.json Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody http://purl.obolibrary.org/obo/HP_5000042 HP:5000043 biolink:PhenotypicFeature Anti-D2 R antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor. hp.json Anti-dopamine-2 receptors (D2R) antibody http://purl.obolibrary.org/obo/HP_5000043 HP:5000044 biolink:PhenotypicFeature Anti-GluK2 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2). hp.json Anti-glutamate kainate receptor subunit 2 antibody http://purl.obolibrary.org/obo/HP_5000044 HP:5000045 biolink:PhenotypicFeature obsolete Anti-MuSK antibody positivity hp.json http://purl.obolibrary.org/obo/HP_5000045 CHEBI:50266 biolink:ChemicalSubstance prodrug A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug. PMID:25157234|PMID:25144792|PMID:25795057|PMID:28070577|PMID:23998799|Wikipedia:Prodrug|PMID:25269430|PMID:28219047|PMID:26028253|PMID:23993918|PMID:28334528|PMID:25620096|PMID:24628402|PMID:25391982|PMID:28329729|PMID:24329110|PMID:26184144|PMID:24709544|PMID:25591121|PMID:28215138|PMID:28259775|PMID:28319647 hp.json Prodrugs http://purl.obolibrary.org/obo/CHEBI_50266 3_STAR CHEBI:50263 biolink:ChemicalSubstance 2-hydroxydicarboxylic acid Any dicarboxylic acid carrying a hydroxy group on the carbon atom at position alpha to the carboxy group. KEGG:C03668 hp.json 2-hydroxydicarboxylic acids|2-Hydroxydicarboxylic acid http://purl.obolibrary.org/obo/CHEBI_50263 3_STAR HP:0032071 biolink:PhenotypicFeature Eosinophilic pneumonia The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia. hp.json Pulmonary eosinophilic infiltrate|Pulmonary eosinophilia|Eosinophilic pulmonary infiltration|Pulmonary eosinophilic infiltration http://purl.obolibrary.org/obo/HP_0032071 OBO:hp#is_observable_through biolink:NamedThing is_observable_through hp.json http://purl.obolibrary.org/obo/hp#is_observable_through HP:0032072 biolink:PhenotypicFeature Popliteal synovial cyst A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle. hp.json Baker's cyst http://purl.obolibrary.org/obo/HP_0032072 HP:0032073 biolink:PhenotypicFeature Aplasia of the fallopian tube Aplasia, that is failure to develop, of the fallopian tube. hp.json http://purl.obolibrary.org/obo/HP_0032073 GO:0050941 biolink:BiologicalProcess negative regulation of pigment cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of pigment cell differentiation. hp.json downregulation of pigment cell differentiation|down regulation of pigment cell differentiation|inhibition of pigment cell differentiation|down-regulation of pigment cell differentiation http://purl.obolibrary.org/obo/GO_0050941 HP:0032070 biolink:PhenotypicFeature Leptomeningeal enhancement Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis. hp.json http://purl.obolibrary.org/obo/HP_0032070 GO:0050942 biolink:BiologicalProcess positive regulation of pigment cell differentiation Any process that activates or increases the frequency, rate or extent of pigment cell differentiation. hp.json up-regulation of pigment cell differentiation|activation of pigment cell differentiation|upregulation of pigment cell differentiation|up regulation of pigment cell differentiation|stimulation of pigment cell differentiation http://purl.obolibrary.org/obo/GO_0050942 HP:0032079 biolink:PhenotypicFeature Medial degeneration Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections. hp.json http://purl.obolibrary.org/obo/HP_0032079 HP:5000013 biolink:PhenotypicFeature Anti-GFAP antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP). hp.json Anti-glial fibrillary acidic protein antibody http://purl.obolibrary.org/obo/HP_5000013 UBERON:0036376 biolink:AnatomicalEntity wall of left ureter FMA:15890 hp.json left ureteral wall http://purl.obolibrary.org/obo/UBERON_0036376 human_reference_atlas UBERON:0036375 biolink:AnatomicalEntity wall of right ureter FMA:15889 hp.json right ureteral wall http://purl.obolibrary.org/obo/UBERON_0036375 HP:5000014 biolink:PhenotypicFeature Anti-GlyR antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR). hp.json Anti-glycine receptor antibody http://purl.obolibrary.org/obo/HP_5000014 HP:5000015 biolink:PhenotypicFeature Anti-Homer-3 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3. hp.json Anti-Homer protein homolog 3 antibody http://purl.obolibrary.org/obo/HP_5000015 HP:5000016 biolink:PhenotypicFeature Anti-Hu antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu. hp.json Anti-ANNA-1 antibody|Anti-Neuronal Nuclear Antibody type-1 antibody http://purl.obolibrary.org/obo/HP_5000016 HP:0032075 biolink:PhenotypicFeature Splenopancreatic fusion Fusion of the pancreatic tail and spleen. hp.json http://purl.obolibrary.org/obo/HP_0032075 HP:5000017 biolink:PhenotypicFeature Anti-Iglon5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5). hp.json Anti-immunoglobulin-like cell adhesion molecule 5 antibody http://purl.obolibrary.org/obo/HP_5000017 HP:5000018 biolink:PhenotypicFeature Anti-ITPR1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1). hp.json Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody http://purl.obolibrary.org/obo/HP_5000018 HP:0032076 biolink:PhenotypicFeature Abnormal male urethral meatus morphology hp.json http://purl.obolibrary.org/obo/HP_0032076 HP:0032077 biolink:PhenotypicFeature Male urethral meatus stenosis An abnormal narrowing of the urethral opening (meatus) of the penis. hp.json Meatus stenosis|Meatal stenosis http://purl.obolibrary.org/obo/HP_0032077 HP:5000019 biolink:PhenotypicFeature Anti-Kelch like protein 11 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11). hp.json Anti-KLHL11 antibody http://purl.obolibrary.org/obo/HP_5000019 HP:0032078 biolink:PhenotypicFeature Angel-shaped phalanx A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head). hp.json http://purl.obolibrary.org/obo/HP_0032078 GO:2001152 biolink:NamedThing negative regulation of renal water transport hp.json http://purl.obolibrary.org/obo/GO_2001152 HP:0020082 biolink:PhenotypicFeature Heinz bodies A type of erythrocyte inclusion composed of denatured hemoglobin. hp.json http://purl.obolibrary.org/obo/HP_0020082 GO:2001153 biolink:NamedThing positive regulation of renal water transport hp.json http://purl.obolibrary.org/obo/GO_2001153 HP:0020081 biolink:PhenotypicFeature Pappenheimer bodies A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain). hp.json http://purl.obolibrary.org/obo/HP_0020081 HP:0020084 biolink:PhenotypicFeature Carbuncle A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle. hp.json http://purl.obolibrary.org/obo/HP_0020084 HP:0020083 biolink:PhenotypicFeature Furuncle An infection of a hair follicle that extends subcutaneously, forming an abscess. hp.json Boil http://purl.obolibrary.org/obo/HP_0020083 CL:1000298 biolink:Cell mesothelial cell of dura mater A mesothelial cell that is part of the dura mater. FMA:256516 hp.json squamous mesothelial cell of dura mater http://purl.obolibrary.org/obo/CL_1000298 HP:5000010 biolink:PhenotypicFeature Anti-GABA(B)R antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R. hp.json Anti-gamma-aminobutyric acid B receptor antibody http://purl.obolibrary.org/obo/HP_5000010 HP:0020080 biolink:PhenotypicFeature Erythrocyte inclusion bodies Nuclear or cytoplasmic aggregates of substances in red blood cells. hp.json http://purl.obolibrary.org/obo/HP_0020080 HP:5000011 biolink:PhenotypicFeature Anti-GAD65 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65). hp.json Anti-glutamic acid decarboxylase 65 antibody http://purl.obolibrary.org/obo/HP_5000011 HP:5000012 biolink:PhenotypicFeature Anti-Gephyrin antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin. hp.json http://purl.obolibrary.org/obo/HP_5000012 HP:0020089 biolink:PhenotypicFeature Post-vaccination rubella Infection with the rubella virus of the live-attenuated vaccine. hp.json http://purl.obolibrary.org/obo/HP_0020089 HP:0020086 biolink:PhenotypicFeature BCGitis Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0020086 CHEBI:74222 biolink:ChemicalSubstance gamma-lactam A lactam in which the amide bond is contained within a five-membered ring, which includes the amide nitrogen and the carbonyl carbon. hp.json gamma-lactams http://purl.obolibrary.org/obo/CHEBI_74222 3_STAR HP:0020085 biolink:PhenotypicFeature Infection following live vaccination An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens. hp.json http://purl.obolibrary.org/obo/HP_0020085 HP:0020088 biolink:PhenotypicFeature Post-vaccination measles Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases. hp.json Vaccine associated measles http://purl.obolibrary.org/obo/HP_0020088 HP:0020087 biolink:PhenotypicFeature BCGosis Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. hp.json BCGiosis|Disseminated Bacillus Calmette-Guerin infection http://purl.obolibrary.org/obo/HP_0020087 CHEBI:74223 biolink:ChemicalSubstance pyrrolidin-2-ones A pyrrolidinone in which the oxo group is at position 2 of the pyrrolidine ring. hp.json 2-pyrrolidones|pyrrolidine-2-ones|2-pyrrolidinones http://purl.obolibrary.org/obo/CHEBI_74223 3_STAR GO:2001151 biolink:NamedThing regulation of renal water transport hp.json http://purl.obolibrary.org/obo/GO_2001151 HP:0032082 biolink:PhenotypicFeature Translamellar mucoid extracellular matrix accumulation A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees. hp.json http://purl.obolibrary.org/obo/HP_0032082 HP:0032083 biolink:PhenotypicFeature Aortic elastic fiber fragmentation Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers. hp.json Aortic elastic fibre fragmentation http://purl.obolibrary.org/obo/HP_0032083 HP:0032084 biolink:PhenotypicFeature Aortic elastic fiber thinning A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers. hp.json Aortic elastic fibre thinning http://purl.obolibrary.org/obo/HP_0032084 HP:0032085 biolink:PhenotypicFeature Aortic elastic fiber disorganization Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers. hp.json Aortic elastic fibre disorganisation http://purl.obolibrary.org/obo/HP_0032085 GO:0050954 biolink:BiologicalProcess sensory perception of mechanical stimulus The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. hp.json perception of mechanical stimulus|mechanosensory perception|chemi-mechanical coupling http://purl.obolibrary.org/obo/GO_0050954 GO:0050953 biolink:BiologicalProcess sensory perception of light stimulus The series of events required for an organism to receive a sensory light stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. hp.json http://purl.obolibrary.org/obo/GO_0050953 HP:0032081 biolink:PhenotypicFeature Intralamellar mucoid extracellular matrix accumulation A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units. hp.json http://purl.obolibrary.org/obo/HP_0032081 HP:5000024 biolink:PhenotypicFeature Anti-mGluR1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1). hp.json Anti-metabotropic glutamate receptor 1 antibody http://purl.obolibrary.org/obo/HP_5000024 HP:5000025 biolink:PhenotypicFeature Anti-mGluR5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5). hp.json Anti-Metabotropic Glutamate Receptor Type 5 antibody http://purl.obolibrary.org/obo/HP_5000025 HP:5000026 biolink:PhenotypicFeature Anti-neurexin-3alpha antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha. hp.json Anti-neurexin-3alpha antibody http://purl.obolibrary.org/obo/HP_5000026 GO:0050957 biolink:BiologicalProcess equilibrioception The series of events required for an organism to receive an orientational stimulus, convert it to a molecular signal, and recognize and characterize the signal. Equilibrioception refers to a combination of processes by which an organism can perceive its orientation with respect to gravity. In animals, stimuli come from labyrinth system of the inner ears, monitoring the direction of motion; visual stimuli, with information on orientation and motion; pressure receptors, which tell the organism which body surfaces are in contact with the ground; and proprioceptive cues, which report which parts of the body are in motion. Wikipedia:Equilibrioception hp.json sensory perception of orientation with respect to gravity http://purl.obolibrary.org/obo/GO_0050957 HP:5000027 biolink:PhenotypicFeature Anti-P/Q-type VGCC antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs). hp.json Anti-P/Q-type voltage-gated calcium-channel antibody http://purl.obolibrary.org/obo/HP_5000027 HP:0032086 biolink:PhenotypicFeature Aortic smooth muscle cell nuclei loss A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain. hp.json http://purl.obolibrary.org/obo/HP_0032086 HP:5000028 biolink:PhenotypicFeature Anti-MAP1B antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B). hp.json Anti-Purkinje cell cytoplasmic type-2 antibody|Anti-microtubule-associated protein 1B antibody http://purl.obolibrary.org/obo/HP_5000028 HP:0032087 biolink:PhenotypicFeature Aortic laminar medial collapse Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers. hp.json http://purl.obolibrary.org/obo/HP_0032087 HP:5000029 biolink:PhenotypicFeature Anti-PKCgamma antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma. hp.json Anti-Protein kinase C gamma antibody http://purl.obolibrary.org/obo/HP_5000029 HP:0032088 biolink:PhenotypicFeature Aortic smooth muscle cell disorganization Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells. hp.json Aortic smooth muscle cell disorganisation http://purl.obolibrary.org/obo/HP_0032088 HP:0032089 biolink:PhenotypicFeature Aortic medial fibrosis An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units). hp.json http://purl.obolibrary.org/obo/HP_0032089 HP:0020071 biolink:PhenotypicFeature Viremia The presence of virus in the blood. hp.json http://purl.obolibrary.org/obo/HP_0020071 HP:0020073 biolink:PhenotypicFeature Hypopigmented macule A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. hp.json http://purl.obolibrary.org/obo/HP_0020073 HP:0020072 biolink:PhenotypicFeature Persistent EBV viremia Persistent presence of Epstein-Barr virus in the blood. hp.json http://purl.obolibrary.org/obo/HP_0020072 CL:1000286 biolink:Cell smooth muscle cell of rectum A smooth muscle cell that is part of the rectum. FMA:17522 hp.json non-striated muscle fiber of rectum|smooth muscle fiber of rectum http://purl.obolibrary.org/obo/CL_1000286 HP:5000020 biolink:PhenotypicFeature Anti-LGI1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1). hp.json Anti-Anti-leucine-rich glioma-inactivated 1 antibody http://purl.obolibrary.org/obo/HP_5000020 HP:5000021 biolink:PhenotypicFeature Anti-Ma antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma. hp.json http://purl.obolibrary.org/obo/HP_5000021 CL:1000285 biolink:Cell smooth muscle cell of sigmoid colon A smooth muscle cell that is part of the sigmoid colon. FMA:17521 hp.json non-striated muscle fiber of sigmoid colon http://purl.obolibrary.org/obo/CL_1000285 HP:5000022 biolink:PhenotypicFeature Anti-Ma2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2. hp.json Anti-Ta antibody http://purl.obolibrary.org/obo/HP_5000022 HP:5000023 biolink:PhenotypicFeature Anti-Ma1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1. hp.json http://purl.obolibrary.org/obo/HP_5000023 HP:0020079 biolink:PhenotypicFeature Beta-alaninuria An increased level of beta-alanine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0020079 HP:0020078 biolink:PhenotypicFeature Alaninuria An increased level of alanine in the urine. hp.json Increased urinary alanine http://purl.obolibrary.org/obo/HP_0020078 CL:1000280 biolink:Cell smooth muscle cell of colon A smooth muscle cell that is part of the colon. FMA:15663 hp.json non-striated muscle fiber of colon http://purl.obolibrary.org/obo/CL_1000280 HP:0020075 biolink:PhenotypicFeature Leucine crystalluria The presence of leuucine crystals in the urine. hp.json http://purl.obolibrary.org/obo/HP_0020075 HP:0020074 biolink:PhenotypicFeature Crystalluria The presence of crystals in the urine. hp.json http://purl.obolibrary.org/obo/HP_0020074 HP:0020077 biolink:PhenotypicFeature Carnitinuria An elevated level of carnitine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0020077 HP:0020076 biolink:PhenotypicFeature Wrist ganglion A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule. hp.json Ganglion cyst of the wrist http://purl.obolibrary.org/obo/HP_0020076 GO:0050962 biolink:BiologicalProcess detection of light stimulus involved in sensory perception The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light. hp.json sensory transduction of light stimulus|sensory perception, sensory detection of light stimulus|sensory detection of light stimulus during sensory perception|sensory perception, sensory transduction of light stimulus|sensory detection of light stimulus|sensory transduction of light stimulus during sensory perception http://purl.obolibrary.org/obo/GO_0050962 HP:0032094 biolink:PhenotypicFeature Increased circulating surfactant protein level An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis. hp.json Increased serum surfactant protein level http://purl.obolibrary.org/obo/HP_0032094 HP:0007095 biolink:PhenotypicFeature obsolete Frontoparietal polymicrogyria hp.json http://purl.obolibrary.org/obo/HP_0007095 HP:0032096 biolink:PhenotypicFeature Abnormal manganese concentration A deviation from the normal range of manganese in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0032096 HP:0007096 biolink:PhenotypicFeature Hypoplasia of the optic tract UMLS:C1856654 hp.json Underdeveloped optic tract http://purl.obolibrary.org/obo/HP_0007096 HP:0032090 biolink:PhenotypicFeature Intralamellar aortic medial fibrosis A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units. hp.json http://purl.obolibrary.org/obo/HP_0032090 HP:0032091 biolink:PhenotypicFeature Translamellar aortic medial fibrosis A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units. hp.json http://purl.obolibrary.org/obo/HP_0032091 HP:0032092 biolink:PhenotypicFeature Left ventricular outflow tract obstruction Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. hp.json http://purl.obolibrary.org/obo/HP_0032092 HP:0032097 biolink:PhenotypicFeature Hypermanganesemia An elevation above the normal concentration of manganese in the blood. hp.json Increased blood manganese concentration http://purl.obolibrary.org/obo/HP_0032097 HP:0032098 biolink:PhenotypicFeature Hypomanganesemia A reduction below the normal concentration of manganese in the blood. hp.json http://purl.obolibrary.org/obo/HP_0032098 HP:0032099 biolink:PhenotypicFeature Perioral radial furrowing The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976). hp.json http://purl.obolibrary.org/obo/HP_0032099 CL:0002485 biolink:Cell retinal melanocyte A melanocyte of the retina. This cell type is distinct from pigmented retinal epithelium. hp.json http://purl.obolibrary.org/obo/CL_0002485 HP:0020060 biolink:PhenotypicFeature Decreased red blood cell count An abnormal reduction below the normal number of red blood cells per volume in the circulation. hp.json Decreased RBC count http://purl.obolibrary.org/obo/HP_0020060 CL:0002484 biolink:Cell epithelial melanocyte A melanocyte that produces pigment in the epithelium. hp.json http://purl.obolibrary.org/obo/CL_0002484 HP:0020062 biolink:PhenotypicFeature Decreased hemoglobin concentration An abnormal reduction below normal hemoglobin concentration in the circulation. hp.json Decreased haemoglobin concentration|Decreased Hb concentration http://purl.obolibrary.org/obo/HP_0020062 HP:0020061 biolink:PhenotypicFeature Abnormal hemoglobin concentration Any deviation from the normal concentration of hemoglobin in the blood. hp.json Abnormal haemoglobin concentration|Abnormal Hb concentration http://purl.obolibrary.org/obo/HP_0020061 CL:0002489 biolink:Cell double negative thymocyte A thymocyte that lacks expression of CD4 and CD8. hp.json CD4-CD8- T cell|double negative T cell http://purl.obolibrary.org/obo/CL_0002489 HP:0007086 biolink:PhenotypicFeature Social and occupational deterioration UMLS:C1866986 hp.json http://purl.obolibrary.org/obo/HP_0007086 HP:0020064 biolink:PhenotypicFeature Abnormal eosinophil count Any deviation from the normal number of eosinophils per volume in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0020064 HP:0007087 biolink:PhenotypicFeature obsolete Involuntary jerking movements hp.json http://purl.obolibrary.org/obo/HP_0007087 HP:0020063 biolink:PhenotypicFeature Increased hemoglobin concentration An abnormal elevation above normal hemoglobin concentration in the circulation. hp.json Increased Hb concentration|Increased haemoglobin concentration http://purl.obolibrary.org/obo/HP_0020063 HP:0007089 biolink:PhenotypicFeature Facial-lingual fasciculations Fasciculations affecting the tongue muscle and the musculature of the face. UMLS:C1862359 hp.json http://purl.obolibrary.org/obo/HP_0007089 CL:0002482 biolink:Cell dermal melanocyte A melanocyte that produces pigment in the dermis. hp.json http://purl.obolibrary.org/obo/CL_0002482 GO:0050973 biolink:BiologicalProcess detection of mechanical stimulus involved in equilibrioception The series of events involved in equilibrioception in which a mechanical stimulus is received and converted into a molecular signal. During equilibrioception, mechanical stimuli may be in the form of input from pressure receptors or from the labyrinth system of the inner ears. hp.json sensory detection of mechanical stimulus during equilibrioception|equilibrioception, sensory detection of mechanical stimulus|equilibrioception, detection of mechanical stimulus|equilibrioception, sensory transduction of mechanical stimulus|sensory transduction of mechanical stimulus during equilibrioception http://purl.obolibrary.org/obo/GO_0050973 GO:0050974 biolink:BiologicalProcess detection of mechanical stimulus involved in sensory perception The series of events in which a mechanical stimulus is received and converted into a molecular signal as part of sensory perception. hp.json sensory perception, sensory transduction of mechanical stimulus|sensory perception, sensory detection of mechanical stimulus|sensory transduction of mechanical stimulus during sensory perception|sensory detection of mechanical stimulus during sensory perception|sensory transduction of mechanical stimulus|sensory detection of mechanical stimulus http://purl.obolibrary.org/obo/GO_0050974 HP:5000002 biolink:PhenotypicFeature Anti-Amphiphysin antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin. hp.json http://purl.obolibrary.org/obo/HP_5000002 HP:5000003 biolink:PhenotypicFeature Anti-ARHGAP26 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26). hp.json Anti-Ca antibody|Anti-RhoGTPase-activating protein 26 antibody http://purl.obolibrary.org/obo/HP_5000003 UBERON:0012375 biolink:AnatomicalEntity subserosa A layer of tissue between the muscularis and serosa. SCTID:2255006|NCIT:C94494|Wikipedia:Subserosa|FMA:45636|UMLS:C0225334 hp.json http://purl.obolibrary.org/obo/UBERON_0012375 human_reference_atlas HP:5000004 biolink:PhenotypicFeature Anti-CARP VIII antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII). hp.json Anti-carbonic anhydrase-related protein VIII antibody|Anti CARPVIII antibody http://purl.obolibrary.org/obo/HP_5000004 HP:5000005 biolink:PhenotypicFeature Anti-CASPR2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2). hp.json Anti-contactin-associated protein-like 2 antibody|Anti-Caspr2 antibody http://purl.obolibrary.org/obo/HP_5000005 UBERON:0012373 biolink:AnatomicalEntity sympathetic nerve plexus A nerve plexus that is part of a sympathetic nervous system. MA:0001160|EMAPA:37617 hp.json http://purl.obolibrary.org/obo/UBERON_0012373 human_reference_atlas HP:5000006 biolink:PhenotypicFeature Anti-CV2/CRMP5 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum. hp.json Anti-CV2/collapsin response mediator protein (CRMP)5 antibody|Anti-CV2 antibody|Anti-collapsin response-mediated protein 5 antibody http://purl.obolibrary.org/obo/HP_5000006 HP:5000007 biolink:PhenotypicFeature Anti-DPPX antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX). hp.json Anti-dipeptidyl-peptidase-like protein 6 antibody http://purl.obolibrary.org/obo/HP_5000007 UBERON:0012378 biolink:AnatomicalEntity muscle layer of urinary bladder A muscular coat that is part of a urinary bladder. FMA:15930|UMLS:C1288327|NCIT:C32206 hp.json muscle layer of urinary bladder|tunica muscularis (vesica urinaria)|muscular coat of bladder|tunica musculari vesicae|muscular layer of bladder|bladder muscular coat|muscular coat of urinary bladder|muscular layer of urinary bladder http://purl.obolibrary.org/obo/UBERON_0012378 human_reference_atlas HP:5000008 biolink:PhenotypicFeature Anti-FGFR3 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3. hp.json Anti-fibroblast growth factor receptor 3 antibody http://purl.obolibrary.org/obo/HP_5000008 UBERON:0012377 biolink:AnatomicalEntity muscle layer of jejunum A muscular coat that is part of a jejunum. FMA:14951 hp.json muscularis externa of jejunum|jejunal smooth muscle|muscularis propria of jejunum|smooth muscle of jejunum http://purl.obolibrary.org/obo/UBERON_0012377 human_reference_atlas HP:5000009 biolink:PhenotypicFeature Anti-GABA(A)R antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R. hp.json Anti-GABAA R antibody|Anti-gamma amino butyric acid type A receptors antibody http://purl.obolibrary.org/obo/HP_5000009 UBERON:0000390 biolink:AnatomicalEntity lens nucleus The core of the crystalline lens, surrounded by the cortex. BTO:0001633|FMA:58971|MESH:D007907|MESH:A09.371.509.670|SCTID:280628007 hp.json nucleus of lens http://purl.obolibrary.org/obo/UBERON_0000390 human_reference_atlas UBERON:0000391 biolink:AnatomicalEntity leptomeninx Pia mater or arachnoid mater. FMA:231515|BTO:0001634|CALOHA:TS-0546|NCIT:C32979|NLXANAT:090207|UMLS:C0228126 hp.json pia-arachnoid|leptomeninges|arachnoidea mater et pia mater|pia-arachnoid of neuraxis|arachnoid mater and pia mater http://purl.obolibrary.org/obo/UBERON_0000391 organ_slim HP:0020050 biolink:PhenotypicFeature Anti-granulocyte-macrophage colony stimulating factor antibody positivity The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor. hp.json Anti-GM-CSF antibody positivity http://purl.obolibrary.org/obo/HP_0020050 HP:5000000 biolink:PhenotypicFeature Anti-AK5 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5). hp.json http://purl.obolibrary.org/obo/HP_5000000 HP:5000001 biolink:PhenotypicFeature Anti-AMPAR antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR). hp.json Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody http://purl.obolibrary.org/obo/HP_5000001 UBERON:0000398 biolink:AnatomicalEntity cartilage tissue of sternum Any portion of cartilage tissue that is part of the sternum. FMA:32567 hp.json cartilage of sternum http://purl.obolibrary.org/obo/UBERON_0000398 UBERON:0000399 biolink:AnatomicalEntity jejunal mucosa A mucosa that is part of a jejunum [Automatically generated definition]. MA:0003214|FMA:14949|BTO:0001742|EMAPA:27109|CALOHA:TS-0495 hp.json mucosa of jejunum|jejunal mucous membrane|jejunum mucosa|jejunum mucosa of organ|mucous membrane of jejunum|organ mucosa of jejunum|jejunum mucous membrane|jejunum organ mucosa|mucosa of organ of jejunum http://purl.obolibrary.org/obo/UBERON_0000399 human_reference_atlas HP:0020059 biolink:PhenotypicFeature Increased red blood cell count An abnormal elevation above the normal number of red blood cells per volume in the circulation. hp.json Increased RBC count http://purl.obolibrary.org/obo/HP_0020059 HP:0020058 biolink:PhenotypicFeature Abnormal red blood cell count Any deviation from the normal number of red blood cells per volume in the circulation. hp.json Abnormal RBC count http://purl.obolibrary.org/obo/HP_0020058 HP:0007097 biolink:PhenotypicFeature Cranial nerve motor loss UMLS:C4024940 hp.json http://purl.obolibrary.org/obo/HP_0007097 HP:0007098 biolink:PhenotypicFeature Paroxysmal choreoathetosis Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. UMLS:C1851936|SNOMEDCT_US:49949003 hp.json Choreoathetosis, episodic|Choreoathetosis, intermittent http://purl.obolibrary.org/obo/HP_0007098 UBERON:0000395 biolink:AnatomicalEntity cochlear ganglion The group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)[MP]. distributed to the hair cells of the spiral organ. The cochlear fibers arise in bipolar cells in the spiral ganglion in the modiolus. VHOG:0001183|EMAPA:17572|MESH:D013136|BTO:0001688|FMA:53445|MA:0001085|EHDAA2:0002198|BAMS:GcVIII|GAID:722 hp.json cochlear part of vestibulocochlear ganglion|ganglion cochlearis|spiral ganglion|vestibulocochlear ganglion cochlear component|spiral ganglion of cochlea|Corti's ganglion|ganglion spirale|ganglion spirale cochleae|vestibulocochlear VIII ganglion cochlear component|ganglion of Corti http://purl.obolibrary.org/obo/UBERON_0000395 pheno_slim HP:0007099 biolink:PhenotypicFeature Chiari type I malformation Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) UMLS:C0750929|MSH:D001139|SNOMEDCT_US:253185002 hp.json Arnold Chiari type I malformation|Arnold-Chiari type I malformation|Chiari I malformation http://purl.obolibrary.org/obo/HP_0007099 CL:0002494 biolink:Cell cardiocyte A cell located in the heart, including both muscle and non muscle cells. CALOHA:TS-0115|FMA:84791|BTO:0001539|FMA:83808 hp.json heart cell http://purl.obolibrary.org/obo/CL_0002494 UBERON:0000397 biolink:AnatomicalEntity colonic epithelium An epithelium that is part of a colon [Automatically generated definition]. CALOHA:TS-0163|TAO:0005128|MA:0003195|SCTID:42978003|BTO:0001709|FMA:17302|EMAPA:18941|ZFA:0005128 hp.json epithelial tissue of colon|large bowel epithelium|epithelium of large bowel|colon epithelium|colon epithelial tissue|epithelial tissue of large bowel|colon epithelium|large bowel epithelial tissue|posterior intestine epithelium|epithelium of colon http://purl.obolibrary.org/obo/UBERON_0000397 human_reference_atlas|vertebrate_core HP:0020054 biolink:PhenotypicFeature Abnormal erythrocyte physiology Any functional abnormality of erythrocytes (red-blood cells). hp.json http://purl.obolibrary.org/obo/HP_0020054 HP:0032030 biolink:PhenotypicFeature Lateral canthal tendon laxity Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. hp.json http://purl.obolibrary.org/obo/HP_0032030 GO:0050982 biolink:BiologicalProcess detection of mechanical stimulus The series of events by which a mechanical stimulus is received and converted into a molecular signal. hp.json http://purl.obolibrary.org/obo/GO_0050982 HP:0032035 biolink:PhenotypicFeature Lower eyelid laxity Abnormally lax lower eyelid associated with tissue relaxation. hp.json http://purl.obolibrary.org/obo/HP_0032035 HP:0032036 biolink:PhenotypicFeature Reduced contrast sensitivity An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target. hp.json Abnormal contrast sensitivity http://purl.obolibrary.org/obo/HP_0032036 HP:0032037 biolink:PhenotypicFeature Mildly reduced visual acuity Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation). hp.json Mild visual loss|Mild vision loss|Mild reduction in visual acuity http://purl.obolibrary.org/obo/HP_0032037 HP:0032031 biolink:PhenotypicFeature Medial canthal tendon laxity Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. hp.json http://purl.obolibrary.org/obo/HP_0032031 HP:0032032 biolink:PhenotypicFeature Horizontal eyelid laxity Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present. hp.json http://purl.obolibrary.org/obo/HP_0032032 HP:0032033 biolink:PhenotypicFeature Vertical eyelid laxity Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. hp.json http://purl.obolibrary.org/obo/HP_0032033 HP:0032034 biolink:PhenotypicFeature Upper eyelid laxity Abnormally lax upper eyelid associated with tissue relaxation. hp.json http://purl.obolibrary.org/obo/HP_0032034 UBERON:0036328 biolink:AnatomicalEntity wall of coronary artery FMA:14179 hp.json coronary arterial wall http://purl.obolibrary.org/obo/UBERON_0036328 CL:0002465 biolink:Cell CD11b-positive dendritic cell A conventional dendritic cell that expresses CD11b (ITGAM). hp.json http://purl.obolibrary.org/obo/CL_0002465 HP:0032039 biolink:PhenotypicFeature Abnormality of the ocular adnexa An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. hp.json http://purl.obolibrary.org/obo/HP_0032039 GO:0098928 biolink:BiologicalProcess presynaptic signal transduction Signal transduction in which the initial step occurs in a presynapse. hp.json presynaptic signaling pathway http://purl.obolibrary.org/obo/GO_0098928 goslim_synapse|gocheck_do_not_manually_annotate GO:0098926 biolink:BiologicalProcess postsynaptic signal transduction Signal transduction in which the initial step occurs in a postsynapse. hp.json postsynaptic signaling pathway http://purl.obolibrary.org/obo/GO_0098926 goslim_synapse|gocheck_do_not_manually_annotate GO:0098920 biolink:BiologicalProcess retrograde trans-synaptic signaling by lipid Cell-cell signaling from postsynapse to presynapse, across the synaptic cleft, mediated by a lipid ligand. hp.json http://purl.obolibrary.org/obo/GO_0098920 goslim_synapse GO:0106122 biolink:BiologicalProcess negative regulation of cobalamin metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of a cobalamin metabolic process. hp.json http://purl.obolibrary.org/obo/GO_0106122 GO:0106121 biolink:BiologicalProcess positive regulation of cobalamin metabolic process Any process that activates or increases the frequency, rate or extent of a cobalamin metabolic process. hp.json http://purl.obolibrary.org/obo/GO_0106121 HP:0032040 biolink:PhenotypicFeature Abnormal ocular adnexa physiology A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. hp.json http://purl.obolibrary.org/obo/HP_0032040 HP:0032041 biolink:PhenotypicFeature Vocal cord polyp A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color. hp.json http://purl.obolibrary.org/obo/HP_0032041 HP:0032046 biolink:PhenotypicFeature Focal cortical dysplasia A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. hp.json http://purl.obolibrary.org/obo/HP_0032046 UBERON:0036343 biolink:AnatomicalEntity wall of gallbladder FMA:14657 hp.json gallbladder wall http://purl.obolibrary.org/obo/UBERON_0036343 HP:0032047 biolink:PhenotypicFeature Focal cortical dysplasia type I A type of focal cortical dysplasia that is characterized by abnormal cortical layering. hp.json http://purl.obolibrary.org/obo/HP_0032047 HP:0032048 biolink:PhenotypicFeature Focal cortical dysplasia type Ia A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination. hp.json http://purl.obolibrary.org/obo/HP_0032048 HP:0032049 biolink:PhenotypicFeature Focal cortical dysplasia type Ib A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination. hp.json http://purl.obolibrary.org/obo/HP_0032049 HP:0032043 biolink:PhenotypicFeature Odynophagia Pain experienced with swallowing. hp.json Painful swallowing http://purl.obolibrary.org/obo/HP_0032043 HP:0032044 biolink:PhenotypicFeature Decreased vigilance A reduction in the ability to maintain sustained attention characterized by reduced alertness. hp.json http://purl.obolibrary.org/obo/HP_0032044 HP:0032045 biolink:PhenotypicFeature Hypoplastic carotid canal Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. hp.json http://purl.obolibrary.org/obo/HP_0032045 GO:0098930 biolink:BiologicalProcess axonal transport The directed movement of organelles or molecules along microtubules in axons. Wikipedia:Axoplasmic_transport hp.json axon cargo transport|axoplasmic transport http://purl.obolibrary.org/obo/GO_0098930 goslim_synapse HP:0032050 biolink:PhenotypicFeature Focal cortical dysplasia type Ic A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination. hp.json http://purl.obolibrary.org/obo/HP_0032050 HP:0032051 biolink:PhenotypicFeature Focal cortical dysplasia type II A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. hp.json http://purl.obolibrary.org/obo/HP_0032051 HP:0032052 biolink:PhenotypicFeature Focal cortical dysplasia type IIa A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins. hp.json http://purl.obolibrary.org/obo/HP_0032052 UBERON:0036352 biolink:AnatomicalEntity wall of subclavian artery FMA:15090 hp.json subclavian arterial wall http://purl.obolibrary.org/obo/UBERON_0036352 UBERON:0036351 biolink:AnatomicalEntity wall of brachiocephalic artery FMA:15089 hp.json brachiocephalic arterial wall http://purl.obolibrary.org/obo/UBERON_0036351 GO:1902513 biolink:BiologicalProcess regulation of organelle transport along microtubule Any process that modulates the frequency, rate or extent of organelle transport along microtubule. hp.json regulation of microtubule-based organelle localization http://purl.obolibrary.org/obo/GO_1902513 HP:0032057 biolink:PhenotypicFeature Focal cortical dysplasia type IIIc A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis). hp.json http://purl.obolibrary.org/obo/HP_0032057 HP:0032058 biolink:PhenotypicFeature Focal cortical dysplasia type IIId A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections. hp.json http://purl.obolibrary.org/obo/HP_0032058 HP:0032059 biolink:PhenotypicFeature Mild malformation of cortical development A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter. hp.json http://purl.obolibrary.org/obo/HP_0032059 CHEBI:15904 biolink:ChemicalSubstance long-chain fatty acid A fatty acid with a chain length ranging from C13 to C22. KEGG:C00638 hp.json Long-chain fatty acid|Higher fatty acid|long-chain fatty acids|LCFA|LCFAs http://purl.obolibrary.org/obo/CHEBI_15904 3_STAR HP:0032053 biolink:PhenotypicFeature Focal cortical dysplasia type IIb A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells. hp.json http://purl.obolibrary.org/obo/HP_0032053 CHEBI:15903 biolink:ChemicalSubstance beta-D-glucose D-Glucopyranose with beta configuration at the anomeric centre. PMID:31537530|Drug_Central:845|GlyTouCan:G71142DF|PMID:19443021|GlyGen:G71142DF|KEGG:C00221|CAS:492-61-5|Reaxys:1281607|Beilstein:1281607|PMID:25568069|PDBeChem:BGC|DrugBank:DB02379|CAS:492-61-5|Gmelin:648637|CAS:492-61-5 hp.json BETA-D-GLUCOSE|beta-D-glucose|WURCS=2.0/1,1,0/[a2122h-1b_1-5]/1/|beta-D-Glucose|beta-D-glucopyranose http://purl.obolibrary.org/obo/CHEBI_15903 3_STAR PR:000009054 biolink:Protein insulin gene translation product An insulin family protein that is a translation product of the human INS gene or a 1:1 ortholog thereof. hp.json INS|insulin http://purl.obolibrary.org/obo/PR_000009054 HP:0032054 biolink:PhenotypicFeature Focal cortical dysplasia type III A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe. hp.json http://purl.obolibrary.org/obo/HP_0032054 HP:0032055 biolink:PhenotypicFeature Focal cortical dysplasia type IIIa A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). hp.json http://purl.obolibrary.org/obo/HP_0032055 HP:0032056 biolink:PhenotypicFeature Focal cortical dysplasia type IIIb A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor. hp.json http://purl.obolibrary.org/obo/HP_0032056 CL:1000279 biolink:Cell smooth muscle cell of large intestine A smooth muscle cell that is part of the large intestine. FMA:15653 hp.json non-striated muscle fiber of large intestine http://purl.obolibrary.org/obo/CL_1000279 GO:0098907 biolink:BiologicalProcess regulation of SA node cell action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in an SA node cardiac myocyte. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. hp.json regulation of sinus node cardiac muscle cell action potential|regulation of SAN cardiac muscle cell action potential|regulation of SA node cardiac muscle cell action potential|regulation of sinoatrial node cardiac muscle cell action potential http://purl.obolibrary.org/obo/GO_0098907 GO:0098908 biolink:BiologicalProcess regulation of neuronal action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a neuron. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. hp.json generation of action potential http://purl.obolibrary.org/obo/GO_0098908 CL:1000274 biolink:Cell trophectodermal cell hp.json trophectoderm cell http://purl.obolibrary.org/obo/CL_1000274 GO:0098906 biolink:BiologicalProcess regulation of Purkinje myocyte action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a Purkinje myocyte. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. hp.json http://purl.obolibrary.org/obo/GO_0098906 CL:1000272 biolink:Cell lung secretory cell hp.json http://purl.obolibrary.org/obo/CL_1000272 CL:1000271 biolink:Cell lung ciliated cell hp.json http://purl.obolibrary.org/obo/CL_1000271 GO:0098904 biolink:BiologicalProcess regulation of AV node cell action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in an atrioventricular node myocyte. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. hp.json regulation of AV node cardiac muscle cell action potential|regulation of atrioventricular node cardiac muscle cell action potential http://purl.obolibrary.org/obo/GO_0098904 GO:0098901 biolink:BiologicalProcess regulation of cardiac muscle cell action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a cardiac muscle cell. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. hp.json http://purl.obolibrary.org/obo/GO_0098901 GO:0098900 biolink:BiologicalProcess regulation of action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. hp.json http://purl.obolibrary.org/obo/GO_0098900 HP:0032060 biolink:PhenotypicFeature Epithelioid hemangioma A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area. hp.json Angiolymphoid hyperplasia with eosinophilia http://purl.obolibrary.org/obo/HP_0032060 HP:0032061 biolink:PhenotypicFeature Hypereosinophilia A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter. hp.json http://purl.obolibrary.org/obo/HP_0032061 HP:0032062 biolink:PhenotypicFeature Mallory-Weiss tear Vomiting-induced mucosal laceration at the esophago-gastric junction. hp.json http://purl.obolibrary.org/obo/HP_0032062 HP:0032063 biolink:PhenotypicFeature Ankle joint effusion Abnormal accumulation of fluid in or around the ankle joint. hp.json http://purl.obolibrary.org/obo/HP_0032063 UBERON:0036362 biolink:AnatomicalEntity wall of anal canal FMA:15704 hp.json anal canal wall http://purl.obolibrary.org/obo/UBERON_0036362 HP:0032068 biolink:PhenotypicFeature Increased urinary mucus An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis. hp.json http://purl.obolibrary.org/obo/HP_0032068 HP:0032069 biolink:PhenotypicFeature Anti-thyroglobulin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. hp.json Anti-thyroid globulin antibody positivity|TgAbs http://purl.obolibrary.org/obo/HP_0032069 HP:0032064 biolink:PhenotypicFeature Gastrointestinal eosinophilia Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them. hp.json Eosinophilic gastrointestinal disease|GI eosinophilia|Eosinophilic gastroenteritis|Eosinophilic gastrointestinal disorders|Eosinophilic enteritis http://purl.obolibrary.org/obo/HP_0032064 HP:0032065 biolink:PhenotypicFeature Abnormal serum bicarbonate concentration Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation. hp.json Abnormal serum HCO3 concentration http://purl.obolibrary.org/obo/HP_0032065 HP:0032066 biolink:PhenotypicFeature Decreased serum bicarbonate concentration An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation. hp.json Decreased serum HCO3 concentration http://purl.obolibrary.org/obo/HP_0032066 HP:0032067 biolink:PhenotypicFeature Elevated serum bicarbonate concentration An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation. hp.json Elevated serum HCO3 concentration http://purl.obolibrary.org/obo/HP_0032067 GO:2001141 biolink:BiologicalProcess regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. hp.json regulation of RNA anabolism|regulation of RNA biosynthesis|regulation of RNA synthesis|regulation of RNA formation http://purl.obolibrary.org/obo/GO_2001141 HP:0020093 biolink:PhenotypicFeature Recurrent deep organ abscess formation Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ. hp.json http://purl.obolibrary.org/obo/HP_0020093 CL:0002454 biolink:Cell Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-negative, CD8_alpha-negative and is CD205-positive. hp.json DC.8-4-11b+|spleen double-negative dendritic cell http://purl.obolibrary.org/obo/CL_0002454 GO:0060322 biolink:BiologicalProcess head development The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body. hp.json http://purl.obolibrary.org/obo/GO_0060322 HP:0020095 biolink:PhenotypicFeature Prolonged need of intravenous antibiotic therapy Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time. hp.json http://purl.obolibrary.org/obo/HP_0020095 CL:0002453 biolink:Cell oligodendrocyte precursor cell A progenitor cell of the central nervous system that can differentiate into oligodendrocytes or type-2 astrocytes. This cell originates from multiple structures within the developing brain including the medial ganglion eminence and the lateral ganglionic eminence. These cells migrate throughout the central nervous system and persist into adulthood where they play an important role in remyelination of injured neurons. hp.json O-2A/OPC|oligodendrocyte-type 2 astrocyte (O-2A) progenitor cell|O2A/OPC|oligodendrocyte/type-2 astrocyte progenitor cell http://purl.obolibrary.org/obo/CL_0002453 GO:0060323 biolink:BiologicalProcess head morphogenesis The process in which the anatomical structures of the head are generated and organized. The head is the anterior-most division of the body. hp.json http://purl.obolibrary.org/obo/GO_0060323 GO:0060324 biolink:BiologicalProcess face development The biological process whose specific outcome is the progression of a face from an initial condition to its mature state. The face is the ventral division of the head. hp.json http://purl.obolibrary.org/obo/GO_0060324 GO:0060325 biolink:BiologicalProcess face morphogenesis The process in which the anatomical structures of the face are generated and organized. The face is the ventral division of the head. hp.json http://purl.obolibrary.org/obo/GO_0060325 HP:0020091 biolink:PhenotypicFeature Post-vaccination rotavirus infection Infection with live attenuated rotavirus vaccine following vaccination. hp.json http://purl.obolibrary.org/obo/HP_0020091 GO:0098916 biolink:BiologicalProcess anterograde trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. hp.json http://purl.obolibrary.org/obo/GO_0098916 GO:0060326 biolink:BiologicalProcess cell chemotaxis The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). hp.json http://purl.obolibrary.org/obo/GO_0060326 GO:0098917 biolink:BiologicalProcess retrograde trans-synaptic signaling Cell-cell signaling from post to pre-synapse, across the synaptic cleft. hp.json http://purl.obolibrary.org/obo/GO_0098917 HP:0020090 biolink:PhenotypicFeature Post-vaccination polio Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise. hp.json http://purl.obolibrary.org/obo/HP_0020090 HP:0020097 biolink:PhenotypicFeature Infection due to encapsulated bacteria An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines. hp.json http://purl.obolibrary.org/obo/HP_0020097 HP:0020096 biolink:PhenotypicFeature Recurrent streptococcal infections Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections. hp.json http://purl.obolibrary.org/obo/HP_0020096 HP:0020099 biolink:PhenotypicFeature Severe norovirus infection An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals. hp.json http://purl.obolibrary.org/obo/HP_0020099 HP:0020098 biolink:PhenotypicFeature obsolete Herpes encephalitis hp.json http://purl.obolibrary.org/obo/HP_0020098 HP:0002814 biolink:PhenotypicFeature Abnormality of the lower limb An abnormality of the leg. UMLS:C1096086|SNOMEDCT_US:449715001 hp.json Abnormality of the lower limb|Abnormality of the leg|Lower limb deformities http://purl.obolibrary.org/obo/HP_0002814 hposlim_core HP:0002815 biolink:PhenotypicFeature Abnormality of the knee An abnormality of the knee joint or surrounding structures. UMLS:C4025676 hp.json Abnormality of the knee http://purl.obolibrary.org/obo/HP_0002815 hposlim_core HP:0002812 biolink:PhenotypicFeature Coxa vara Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. UMLS:C0239138|MSH:D060905|SNOMEDCT_US:74820003 hp.json http://purl.obolibrary.org/obo/HP_0002812 HP:0002813 biolink:PhenotypicFeature Abnormality of limb bone morphology Any abnormality of bones of the arms or legs. UMLS:C4082761 hp.json Abnormal shape of limb bone|Arm and/or leg bone differences|Limb abnormality http://purl.obolibrary.org/obo/HP_0002813 HP:0002818 biolink:PhenotypicFeature Abnormal morphology of the radius An abnormality of the radius. UMLS:C4025675 hp.json Abnormality of the radius http://purl.obolibrary.org/obo/HP_0002818 hposlim_core HP:0002816 biolink:PhenotypicFeature Genu recurvatum An abnormally increased extension of the knee joint, so that the knee can bend backwards. UMLS:C0546964|MEDDRA:10018194 hp.json Knee hyperextension|Genu recurvata|Back knee http://purl.obolibrary.org/obo/HP_0002816 hposlim_core HP:0002817 biolink:PhenotypicFeature Abnormality of the upper limb An abnormality of the arm. UMLS:C4020900 hp.json Abnormality of the arm|Abnormality of the upper limb http://purl.obolibrary.org/obo/HP_0002817 HP:0002810 biolink:PhenotypicFeature Dumbbell-shaped metaphyses UMLS:C3277123 hp.json Dumbbell shaped metaphyses|Dumbbell shaped wide portion of long bone|Dumbbell shaped metaphysis http://purl.obolibrary.org/obo/HP_0002810 HP:0002825 biolink:PhenotypicFeature Caudal appendage The presence of a tail-like skin appendage located adjacent to the sacrum. UMLS:C3277117 hp.json Human tail|Coccygeal tail http://purl.obolibrary.org/obo/HP_0002825 hposlim_core HP:0002826 biolink:PhenotypicFeature Halberd-shaped pelvis An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). UMLS:C3277119 hp.json Halberd-shaped pelvis bone http://purl.obolibrary.org/obo/HP_0002826 HP:0002823 biolink:PhenotypicFeature Abnormality of femur morphology Any anomaly of the structure of the femur. UMLS:C4021750 hp.json Abnormality of the thighbone|Abnormality of the femora http://purl.obolibrary.org/obo/HP_0002823 HP:0002829 biolink:PhenotypicFeature Arthralgia Joint pain. UMLS:C0003862|MSH:D018771|SNOMEDCT_US:57676002 hp.json Arthralgias|Joint pain|Joint pains|Arthritic pain http://purl.obolibrary.org/obo/HP_0002829 HP:0002827 biolink:PhenotypicFeature Hip dislocation Displacement of the femur from its normal location in the hip joint. UMLS:C0019554|SNOMEDCT_US:157265008|MSH:D006617 hp.json Dislocation of hip|Hip dislocation|Dislocated hips http://purl.obolibrary.org/obo/HP_0002827 HP:0002828 biolink:PhenotypicFeature Multiple joint contractures UMLS:C0158118|SNOMEDCT_US:202264009|SNOMEDCT_US:19393004 hp.json http://purl.obolibrary.org/obo/HP_0002828 HP:0002821 biolink:PhenotypicFeature Neuropathic arthropathy UMLS:C0003892|SNOMEDCT_US:359554008|SNOMEDCT_US:67536000|MSH:D001177 hp.json Charcot joint|Charcot arthropathy http://purl.obolibrary.org/obo/HP_0002821 HP:0002822 biolink:PhenotypicFeature Hyperplasia of the femoral trochanters UMLS:C3277120 hp.json Hyperplastic femoral trochanters http://purl.obolibrary.org/obo/HP_0002822 CL:0000906 biolink:Cell activated CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, CD25-positive, and CCR7-negative. hp.json activated CD8-positive, alpha-beta T-cell|activated CD8-positive, alpha-beta T lymphocyte|activated CD8-positive, alpha-beta T-lymphocyte http://purl.obolibrary.org/obo/CL_0000906 CL:0000907 biolink:Cell central memory CD8-positive, alpha-beta T cell CD8-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json central CD8-positive, alpha-beta memory T-lymphocyte|central memory CD8-positive, alpha-beta T-lymphocyte|central CD8-positive, alpha-beta memory T cell|central CD8-positive, alpha-beta memory T-cell|central CD8-positive, alpha-beta memory T lymphocyte|central memory CD8-positive, alpha-beta T-cell|central memory CD8+ T cell|central memory CD8-positive, alpha-beta T lymphocyte http://purl.obolibrary.org/obo/CL_0000907 RO:0000092 biolink:NamedThing disposition of inverse of has disposition hp.json http://purl.obolibrary.org/obo/RO_0000092 http://purl.obolibrary.org/obo/RO_0002259 CL:0000909 biolink:Cell CD8-positive, alpha-beta memory T cell A CD8-positive, alpha-beta T cell that has differentiated into a memory T cell. hp.json T.8Mem.Sp|CD8-positive, alpha-beta memory T-cell|CD8-positive, alpha-beta memory T lymphocyte|CD8-positive, alpha-beta memory T-lymphocyte http://purl.obolibrary.org/obo/CL_0000909 RO:0000091 biolink:NamedThing has disposition a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence hp.json http://purl.obolibrary.org/obo/RO_0000091 GO:0003097 biolink:NamedThing renal water transport hp.json http://purl.obolibrary.org/obo/GO_0003097 CL:0000900 biolink:Cell naive thymus-derived CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell that has not experienced activation via antigen contact and has the phenotype CD45RA-positive, CCR7-positive and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. hp.json naive thymus-dervied CD8-positive, alpha-beta T-cell|naive thymus-dervied CD8-positive, alpha-beta T lymphocyte|naive CD8+ T cell|naive thymus-dervied CD8-positive, alpha-beta T-lymphocyte|T.8Nve.Sp http://purl.obolibrary.org/obo/CL_0000900 GO:0003094 biolink:NamedThing glomerular filtration hp.json http://purl.obolibrary.org/obo/GO_0003094 GO:0003093 biolink:NamedThing regulation of glomerular filtration hp.json http://purl.obolibrary.org/obo/GO_0003093 CHEBI:17608 biolink:ChemicalSubstance D-aldohexose Any D-aldose having a chain of six carbon atoms in the molecule. hp.json D-aldohexoses http://purl.obolibrary.org/obo/CHEBI_17608 3_STAR CL:0000904 biolink:Cell central memory CD4-positive, alpha-beta T cell CD4-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json central memory CD4+ T cell|central memory CD4-positive, alpha-beta T-cell|central memory CD4-positive, alpha-beta T lymphocyte|central CD4-positive, alpha-beta memory T cell|central memory CD4-positive, alpha-beta T-lymphocyte|central CD4-positive, alpha-beta memory T-cell|central CD4-positive, alpha-beta memory T lymphocyte|central CD4-positive, alpha-beta memory T-lymphocyte http://purl.obolibrary.org/obo/CL_0000904 RO:0000081 biolink:NamedThing role of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence hp.json http://purl.obolibrary.org/obo/RO_0000081 RO:0000080 biolink:NamedThing quality of a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence hp.json http://purl.obolibrary.org/obo/RO_0000080 HP:0002803 biolink:PhenotypicFeature Congenital contracture One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. UMLS:C0332878 hp.json Congenital joint contractures|congenital contractures http://purl.obolibrary.org/obo/HP_0002803 RO:0000085 biolink:NamedThing has function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence hp.json http://purl.obolibrary.org/obo/RO_0000085 HP:0002804 biolink:PhenotypicFeature Arthrogryposis multiplex congenita Multiple congenital contractures in different body areas. SNOMEDCT_US:111246005|UMLS:C0003886|MSH:D001176|SNOMEDCT_US:77016009 hp.json Arthrogryposis multiplex|Arthrogryposis, congenital|Multiple congenital contractures|Arthrogryposis http://purl.obolibrary.org/obo/HP_0002804 CL:0000911 biolink:Cell effector T cell A differentiated T cell with ability to traffic to peripheral tissues and is capable of mounting a specific immune response. hp.json effector T-cell|effector T lymphocyte|effector T-lymphocyte http://purl.obolibrary.org/obo/CL_0000911 CL:0000912 biolink:Cell helper T cell A effector T cell that provides help in the form of secreted cytokines to other immune cells. BTO:0002417 hp.json helper T-cell|helper T lymphocyte|T-helper cell|helper T-lymphocyte http://purl.obolibrary.org/obo/CL_0000912 HP:0002808 biolink:PhenotypicFeature Kyphosis Exaggerated anterior convexity of the thoracic vertebral column. SNOMEDCT_US:414564002|UMLS:C0022821|UMLS:C1845112|MSH:D007738 hp.json Hyperkyphosis|Round back|Gibbus deformity|Hunched back http://purl.obolibrary.org/obo/HP_0002808 hposlim_core CL:0000913 biolink:Cell effector memory CD8-positive, alpha-beta T cell CD8-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp.json effector CD8-positive, alpha-beta memory T cell|effector CD8-positive, alpha-beta memory T-cell|effector CD8-positive, alpha-beta memory T lymphocyte|effector memory CD8+ T cell|effector memory CD8-positive, alpha-beta T-cell|effector memory CD8-positive, alpha-beta T lymphocyte|effector CD8-positive, alpha-beta memory T-lymphocyte|effector memory CD8-positive, alpha-beta T-lymphocyte http://purl.obolibrary.org/obo/CL_0000913 RO:0000087 biolink:Protein has role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence RO:0000087 hp.json http://purl.obolibrary.org/obo/RO_0000087 HP:0002805 biolink:PhenotypicFeature Accelerated bone age after puberty UMLS:C1860825 hp.json Accelerated bone age after puberty http://purl.obolibrary.org/obo/HP_0002805 RO:0000086 biolink:Protein has quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence RO:0000086 hp.json http://purl.obolibrary.org/obo/RO_0000086 RO:0000079 biolink:NamedThing function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence hp.json http://purl.obolibrary.org/obo/RO_0000079 HP:0002858 biolink:PhenotypicFeature Meningioma The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. UMLS:C0025286|NCIT:C3230|MSH:D008579 hp.json Noncancerous growth of membranes covering brain http://purl.obolibrary.org/obo/HP_0002858 HP:0002859 biolink:PhenotypicFeature Rhabdomyosarcoma SNOMEDCT_US:302847003|MSH:D012208|SNOMEDCT_US:30924005|NCIT:C3359|UMLS:C0035412 hp.json http://purl.obolibrary.org/obo/HP_0002859 HP:0002857 biolink:PhenotypicFeature Genu valgum The legs angle inward, such that the knees are close together and the ankles far apart. SNOMEDCT_US:299330008|MSH:D056304|MEDDRA:10023480|UMLS:C0576093 hp.json Genua valga|Genu valga|Knee joint valgus deformity|Genu valgus|Knock knees http://purl.obolibrary.org/obo/HP_0002857 hposlim_core GO:0003071 biolink:NamedThing renal system process involved in regulation of systemic arterial blood pressure hp.json http://purl.obolibrary.org/obo/GO_0003071 GO:0003073 biolink:NamedThing regulation of systemic arterial blood pressure hp.json http://purl.obolibrary.org/obo/GO_0003073 HP:0002850 biolink:PhenotypicFeature Decreased circulating total IgM An abnormally decreased level of immunoglobulin M (IgM) in blood. UMLS:C0239989 hp.json Reduced IgM levels|IgM deficiency|Decreased IgM level|Decreased IgM http://purl.obolibrary.org/obo/HP_0002850 HP:0002851 biolink:PhenotypicFeature Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. UMLS:C1858973 hp.json Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors http://purl.obolibrary.org/obo/HP_0002851 GO:0003081 biolink:NamedThing regulation of systemic arterial blood pressure by renin-angiotensin hp.json http://purl.obolibrary.org/obo/GO_0003081 HP:0002853 biolink:PhenotypicFeature Increased proportion of HLA DR+ T cells An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation. UMLS:C1858974 hp.json http://purl.obolibrary.org/obo/HP_0002853 HP:0002869 biolink:PhenotypicFeature Flared iliac wing Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. UMLS:C1865841 hp.json Flared iliac wings http://purl.obolibrary.org/obo/HP_0002869 hposlim_core HP:0000206 biolink:PhenotypicFeature Glossitis Inflammation of the tongue. MSH:D005928|SNOMEDCT_US:45534005|UMLS:C0017675 hp.json Inflammation of the tongue|Lingual inflammation|Smooth swollen tongue http://purl.obolibrary.org/obo/HP_0000206 hposlim_core HP:0000205 biolink:PhenotypicFeature Pursed lips An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. UMLS:C1832130 hp.json Tightly closed lips|Pursed lips http://purl.obolibrary.org/obo/HP_0000205 HP:0002867 biolink:PhenotypicFeature Abnormal ilium morphology An abnormality of the ilium, the largest and uppermost bone of the pelvis. UMLS:C4021746 hp.json Abnormality of the ilium|Iliac abnormalities http://purl.obolibrary.org/obo/HP_0002867 hposlim_core HP:0002868 biolink:PhenotypicFeature Narrow iliac wing Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). UMLS:C1836688 hp.json Narrow iliac wings http://purl.obolibrary.org/obo/HP_0002868 hposlim_core HP:0000207 biolink:PhenotypicFeature Triangular mouth The presence of a triangular form of the mouth. UMLS:C1849341 hp.json Triangular mouth|Triangular shaped mouth|Triangular shaped oral aperture http://purl.obolibrary.org/obo/HP_0000207 HP:0002861 biolink:PhenotypicFeature Melanoma The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). SNOMEDCT_US:372244006|MSH:D008545|NCIT:C3224|UMLS:C0025202|SNOMEDCT_US:2092003 hp.json Malignant melanoma|Skin cancer (melanoma)|Cancer of skin pigment cells http://purl.obolibrary.org/obo/HP_0002861 HP:0002862 biolink:PhenotypicFeature Bladder carcinoma The presence of a carcinoma of the urinary bladder. UMLS:C0699885|NCIT:C2916|SNOMEDCT_US:255108000 hp.json http://purl.obolibrary.org/obo/HP_0002862 HP:0000200 biolink:PhenotypicFeature Short lingual frenulum The presence of an abnormally short lingual frenulum. SNOMEDCT_US:249388005|UMLS:C0426501|UMLS:C4280673 hp.json Short lingual frenum|Hypoplasia of lingual frenum|Hypoplasia of tongue frenulum|Short tongue frenum|Short tongue frenulum|Hypoplasia of tongue frenum|Hypoplasia of lingual frenulum|Deficiency of lingual frenulum|Tight lingual frenulum http://purl.obolibrary.org/obo/HP_0000200 GO:0003091 biolink:NamedThing renal water homeostasis hp.json http://purl.obolibrary.org/obo/GO_0003091 RO:0000057 biolink:NamedThing has participant a relation between a process and a continuant, in which the continuant is somehow involved in the process RO:0000057 hp.json http://purl.obolibrary.org/obo/RO_0000057 HP:0002860 biolink:PhenotypicFeature Squamous cell carcinoma The presence of squamous cell carcinoma of the skin. MSH:D018307|UMLS:C0751688|SNOMEDCT_US:402815007|NCIT:C2929|MSH:D002294|UMLS:C0007137|SNOMEDCT_US:28899001 hp.json Squamous cell cancer http://purl.obolibrary.org/obo/HP_0002860 HP:0000202 biolink:PhenotypicFeature Oral cleft The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. UMLS:C0158646|SNOMEDCT_US:253983005|SNOMEDCT_US:66948001|UMLS:C4021813 hp.json Cleft lip/palate|Cleft lip, cleft palate|Cleft of the mouth|Oral clefting http://purl.obolibrary.org/obo/HP_0000202 HP:0002865 biolink:PhenotypicFeature Medullary thyroid carcinoma The presence of a medullary carcinoma of the thyroid gland. SNOMEDCT_US:255032005|UMLS:C0238462|NCIT:C3879|MSH:C536914|SNOMEDCT_US:128916007 hp.json Medullary thyroid cancer http://purl.obolibrary.org/obo/HP_0002865 HP:0000201 biolink:PhenotypicFeature Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. UMLS:C0031900|SNOMEDCT_US:4602007|MSH:D010855 hp.json Pierre-robin anomaly|Pierre Robin sequence|Pierre-robin malformation|Pierre-robin deformity|Robin sequence http://purl.obolibrary.org/obo/HP_0000201 HP:0002866 biolink:PhenotypicFeature Hypoplastic iliac wing Underdevelopment of the ilium ala. UMLS:C1865027 hp.json Hypoplastic iliac wings|Small iliac wings|Hypoplastic iliac alae http://purl.obolibrary.org/obo/HP_0002866 hposlim_core HP:0002863 biolink:PhenotypicFeature Myelodysplasia Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. SNOMEDCT_US:128623006|MSH:D009190|UMLS:C1851971|SNOMEDCT_US:188736006|SNOMEDCT_US:109995007|UMLS:C3463824 hp.json Hypoplastic myelodysplasia|Myelodysplastic syndrome http://purl.obolibrary.org/obo/HP_0002863 HP:0000204 biolink:PhenotypicFeature Cleft upper lip A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. MSH:D002971|UMLS:C0008924|SNOMEDCT_US:80281008|Fyler:4875 hp.json Cheiloschisis of upper lip|Cleft upper lip|Cleft of upper lip|Harelip http://purl.obolibrary.org/obo/HP_0000204 HP:0002864 biolink:PhenotypicFeature Paraganglioma of head and neck UMLS:C1333944 hp.json Paragangliomas, head and neck http://purl.obolibrary.org/obo/HP_0002864 RO:0000052 biolink:NamedThing characteristic of a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. RO:0000052 hp.json http://purl.obolibrary.org/obo/RO_0000052 HP:0002836 biolink:PhenotypicFeature Bladder exstrophy Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. MSH:D001746|SNOMEDCT_US:61758007|UMLS:C0005689 hp.json Ectopia vesicae http://purl.obolibrary.org/obo/HP_0002836 HP:0002837 biolink:PhenotypicFeature Recurrent bronchitis An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. UMLS:C0741796 hp.json Bronchitis, recurrent http://purl.obolibrary.org/obo/HP_0002837 HP:0002834 biolink:PhenotypicFeature Flared femoral metaphysis UMLS:C4025674 hp.json Flared metaphysis of thigh bone http://purl.obolibrary.org/obo/HP_0002834 HP:0002835 biolink:PhenotypicFeature Aspiration Inspiration of a foreign object into the airway. UMLS:C2712334|SNOMEDCT_US:413585005|UMLS:C0700198|SNOMEDCT_US:68052005 hp.json Pulmonary aspiration http://purl.obolibrary.org/obo/HP_0002835 RO:0000056 biolink:NamedThing participates in a relation between a continuant and a process, in which the continuant is somehow involved in the process RO:0000056 hp.json http://purl.obolibrary.org/obo/RO_0000056 HP:0002839 biolink:PhenotypicFeature Urinary bladder sphincter dysfunction Abnormal function of a sphincter of the urinary bladder. UMLS:C1843663 hp.json Sphincter disturbance|Sphincter disturbances http://purl.obolibrary.org/obo/HP_0002839 RO:0000053 biolink:NamedThing bearer of a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence RO:0000053 hp.json http://purl.obolibrary.org/obo/RO_0000053 HP:0002832 biolink:PhenotypicFeature Calcific stippling An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). UMLS:C1849993 hp.json Discrete calcific stippling http://purl.obolibrary.org/obo/HP_0002832 HP:0002833 biolink:PhenotypicFeature Cystic angiomatosis of bone Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. UMLS:C4021749 hp.json Lytic cystic lesions in appendicular bones http://purl.obolibrary.org/obo/HP_0002833 HP:0002831 biolink:PhenotypicFeature Long coccyx UMLS:C3277116 hp.json Long tailbone http://purl.obolibrary.org/obo/HP_0002831 GO:0015031 biolink:BiologicalProcess protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json enzyme transport http://purl.obolibrary.org/obo/GO_0015031 goslim_yeast|goslim_pir|goslim_chembl GO:0030667 biolink:CellularComponent secretory granule membrane The lipid bilayer surrounding a secretory granule. hp.json secretory vesicle membrane http://purl.obolibrary.org/obo/GO_0030667 HP:0002847 biolink:PhenotypicFeature Impaired memory B cell generation Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge. UMLS:C4025672 hp.json http://purl.obolibrary.org/obo/HP_0002847 HP:0002848 biolink:PhenotypicFeature Decreased specific anti-polysaccharide antibody level The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. UMLS:C4021747 hp.json Depressed antibody response to polysaccharide antigens|Specific anti-polysaccharide antibody deficiency|Low specific anti-polysaccharide antibody titer http://purl.obolibrary.org/obo/HP_0002848 HP:0002845 biolink:PhenotypicFeature obsolete Increased proportion of peripheral CD3+ T cells hp.json http://purl.obolibrary.org/obo/HP_0002845 HP:0002846 biolink:PhenotypicFeature Abnormal B cell morphology A structural abnormality of B cells. UMLS:C4021748 hp.json Abnormality of B cells|Abnormal B cells http://purl.obolibrary.org/obo/HP_0002846 HP:0002849 biolink:PhenotypicFeature Absence of lymph node germinal center Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. UMLS:C1847383 hp.json Lymph nodes lack germinal centre|Lymphoid germinal center defect|Absence of lymph node germinal centre|Lymph nodes lack germinal center|Lymphoid germinal centre defect http://purl.obolibrary.org/obo/HP_0002849 HP:0002840 biolink:PhenotypicFeature Lymphadenitis Inflammation of a lymph node. MSH:D008199|SNOMEDCT_US:19471005|UMLS:C0024205 hp.json Inflammation of the lymph nodes http://purl.obolibrary.org/obo/HP_0002840 HP:0002843 biolink:PhenotypicFeature Abnormal T cell morphology An abnormality of T cells. UMLS:C1855752 hp.json Abnormality of T cells|Abnormal T cells|Defective cellular immunity|Cellular immune defect http://purl.obolibrary.org/obo/HP_0002843 HP:0002841 biolink:PhenotypicFeature Recurrent fungal infections Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection. UMLS:C1844384 hp.json Recurrent fungal infections http://purl.obolibrary.org/obo/HP_0002841 HP:0002842 biolink:PhenotypicFeature Recurrent Burkholderia cepacia infections Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent. UMLS:C4025673 hp.json http://purl.obolibrary.org/obo/HP_0002842 GO:0030660 biolink:CellularComponent Golgi-associated vesicle membrane The lipid bilayer surrounding a vesicle associated with the Golgi apparatus. hp.json Golgi vesicle membrane http://purl.obolibrary.org/obo/GO_0030660 GO:0030661 biolink:CellularComponent chitosome membrane The lipid bilayer surrounding a chitosome. hp.json http://purl.obolibrary.org/obo/GO_0030661 UBERON:0007490 biolink:AnatomicalEntity keratin-based acellular structure Acellular anatomical structure whose predominant constituent is keratin. EHDAA2:0003099|AEO:0000099 hp.json keratin-based structure http://purl.obolibrary.org/obo/UBERON_0007490 GO:0042641 biolink:CellularComponent actomyosin Any complex of actin, myosin, and accessory proteins. hp.json actomyosin structure|actomyosin complex http://purl.obolibrary.org/obo/GO_0042641 UBERON:0007499 biolink:AnatomicalEntity epithelial sac An epithelial tube that is open at one end only. EHDAA2:0003115|AEO:0000115 hp.json http://purl.obolibrary.org/obo/UBERON_0007499 CHEBI:17650 biolink:ChemicalSubstance cortisol A 17alpha-hydroxy-C21-steroid that is pregn-4-ene substituted by oxo groups at positions 3 and 20 and hydroxy groups at positions 11, 17 and 21. Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the "stress hormone" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses CAS:50-23-7|CAS:50-23-7|PMID:10438974|KEGG:C00735|Beilstein:1354819|PMID:2268561|Patent:US2602769|Wikipedia:Hydrocortisone|Drug_Central:1388|LIPID_MAPS_instance:LMST02030001|LINCS:LSM-5980|KEGG:D00088|CAS:50-23-7|DrugBank:DB00741|PDBeChem:HCY hp.json 11beta-hydrocortisone|hidrocortisona|Cortisol|17-hydroxycorticosterone|(11beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione|Reichstein's substance M|11beta,17alpha,21-trihydroxy-4-pregnene-3,20-dione|11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione|Kendall's compound F|cortisol|4-pregnen-11beta,17alpha,21-triol-3,20-dione|hydrocortisonum|hydrocortisone|Hydrocortisone|11beta,17,21-trihydroxypregn-4-ene-3,20-dione http://purl.obolibrary.org/obo/CHEBI_17650 3_STAR CHEBI:30623 biolink:ChemicalSubstance oxalate(2-) A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of oxalic acid. Gmelin:2207|PDBeChem:OXL|Reaxys:1905970|Beilstein:1905970|UM-BBD_compID:c0017|CAS:338-70-5|KEGG:C00209 hp.json oxalate|ox|OXALATE ION|ethanedioate|ethanedioic acid, ion(2-) http://purl.obolibrary.org/obo/CHEBI_30623 3_STAR CL:0000988 biolink:Cell hematopoietic cell A cell of a hematopoietic lineage. CALOHA:TS-2017|FMA:70366|FMA:83598|BTO:0000574 hp.json hemopoietic cell|haemopoietic cell|haematopoietic cell http://purl.obolibrary.org/obo/CL_0000988 GO:0040007 biolink:BiologicalProcess growth The increase in size or mass of an entire organism, a part of an organism or a cell. hp.json non-developmental growth|growth pattern http://purl.obolibrary.org/obo/GO_0040007 gocheck_do_not_annotate|goslim_plant|goslim_pir|goslim_chembl GO:0040008 biolink:BiologicalProcess regulation of growth Any process that modulates the frequency, rate or extent of the growth of all or part of an organism so that it occurs at its proper speed, either globally or in a specific part of the organism's development. hp.json http://purl.obolibrary.org/obo/GO_0040008 UBERON:0007475 biolink:AnatomicalEntity matrix-based tissue A tissue whose predominant feature is extracellular matrix which may or may not be highly hydrated or calcified. EHDAA2:0003081|AEO:0000081 hp.json http://purl.obolibrary.org/obo/UBERON_0007475 CL:0000980 biolink:Cell plasmablast An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. FMA:84371 hp.json CD27-positive, CD38-positive, CD20-negative B cell|CD20-negative B cell http://purl.obolibrary.org/obo/CL_0000980 UBERON:0007473 biolink:AnatomicalEntity lumen of epithelial sac The space within an epithelial sphere. AEO:0000079 hp.json cavity of vesicle http://purl.obolibrary.org/obo/UBERON_0007473 GO:0040011 biolink:BiologicalProcess locomotion Self-propelled movement of a cell or organism from one location to another. hp.json http://purl.obolibrary.org/obo/GO_0040011 goslim_pir|goslim_chembl|goslim_generic GO:0040012 biolink:BiologicalProcess regulation of locomotion Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. hp.json http://purl.obolibrary.org/obo/GO_0040012 GO:0040013 biolink:BiologicalProcess negative regulation of locomotion Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism. hp.json downregulation of locomotion|down regulation of locomotion|inhibition of locomotion|down-regulation of locomotion http://purl.obolibrary.org/obo/GO_0040013 GO:0042670 biolink:BiologicalProcess retinal cone cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a retinal cone cell. hp.json http://purl.obolibrary.org/obo/GO_0042670 GO:0040018 biolink:BiologicalProcess positive regulation of multicellular organism growth Any process that activates or increases the frequency, rate or extent of growth of an organism to reach its usual body size. hp.json positive regulation of body growth|positive regulation of body size http://purl.obolibrary.org/obo/GO_0040018 GO:0040019 biolink:BiologicalProcess positive regulation of embryonic development Any process that activates or increases the frequency, rate or extent of embryonic development. hp.json up regulation of embryonic development|activation of embryonic development|stimulation of embryonic development|upregulation of embryonic development|up-regulation of embryonic development http://purl.obolibrary.org/obo/GO_0040019 CL:0000990 biolink:Cell conventional dendritic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. FMA:84191 hp.json dendritic reticular cell|interdigitating cell|veiled cell|type 1 DC|DC1|cDC http://purl.obolibrary.org/obo/CL_0000990 GO:0040014 biolink:BiologicalProcess regulation of multicellular organism growth Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size. hp.json regulation of body size|regulation of body growth http://purl.obolibrary.org/obo/GO_0040014 GO:0040015 biolink:BiologicalProcess negative regulation of multicellular organism growth Any process that stops, prevents, or reduces the frequency, rate or extent of growth of an organism to reach its usual body size. hp.json negative regulation of body growth|negative regulation of body size http://purl.obolibrary.org/obo/GO_0040015 GO:0040016 biolink:BiologicalProcess embryonic cleavage The first few specialized divisions of an activated animal egg. hp.json http://purl.obolibrary.org/obo/GO_0040016 GO:0040017 biolink:BiologicalProcess positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. hp.json up-regulation of locomotion|activation of locomotion|upregulation of locomotion|stimulation of locomotion|up regulation of locomotion http://purl.obolibrary.org/obo/GO_0040017 CL:0000995 biolink:Cell CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor hp.json CD71-positive common myeloid precursor OR CD7-negative lymphoid precursor OR CD7-positive lymphoid http://purl.obolibrary.org/obo/CL_0000995 GO:0040020 biolink:BiologicalProcess regulation of meiotic nuclear division Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes. hp.json regulation of meiosis http://purl.obolibrary.org/obo/GO_0040020 GO:0040029 biolink:BiologicalProcess regulation of gene expression, epigenetic A process that modulates the frequency, rate or extent of gene expression by remodelling of chromatin by either modifying the chromatin fiber, the nucleosomal histones, or the DNA. Once established, this regulation may be maintained over many cell divisions. It can also be heritable in the absence of the instigating signal. hp.json http://purl.obolibrary.org/obo/GO_0040029 goslim_plant GO:0042695 biolink:BiologicalProcess thelarche The beginning of development of the breasts in the female. Wikipedia:Thelarche hp.json http://purl.obolibrary.org/obo/GO_0042695 GO:0040034 biolink:BiologicalProcess regulation of development, heterochronic Any process that modulates the consistent predetermined time point at which an integrated living unit or organism progresses from an initial condition to a later condition and the rate at which this time point is reached. hp.json heterochronic regulation of development|developmental timing|temporal regulation of development http://purl.obolibrary.org/obo/GO_0040034 GO:0042696 biolink:BiologicalProcess menarche The beginning of the menstrual cycle; the first menstrual cycle in an individual. Wikipedia:Menarche hp.json http://purl.obolibrary.org/obo/GO_0042696 gocheck_do_not_annotate GO:0042692 biolink:BiologicalProcess muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a muscle cell. hp.json myogenesis http://purl.obolibrary.org/obo/GO_0042692 CL:0000970 biolink:Cell unswitched memory B cell An unswitched memory B cell is a memory B cell that has the phenotype IgM-positive, IgD-positive, CD27-positive, CD138-negative, IgG-negative, IgE-negative, and IgA-negative. hp.json unswitched memory B-cell|unswitched memory B lymphocyte|non-class-switched memory B cell|unswitched memory B-lymphocyte|IgD+ memory B cell http://purl.obolibrary.org/obo/CL_0000970 GO:0042698 biolink:BiologicalProcess ovulation cycle The type of sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years. hp.json http://purl.obolibrary.org/obo/GO_0042698 CL:0000972 biolink:Cell class switched memory B cell A class switched memory B cell is a memory B cell that has undergone Ig class switching and therefore is IgM-negative on the cell surface. These cells are CD27-positive and have either IgG, IgE, or IgA on the cell surface. hp.json class switched memory B-lymphocyte|class switched memory B-cell|class switched memory B lymphocyte http://purl.obolibrary.org/obo/CL_0000972 CHEBI:17612 biolink:ChemicalSubstance (3,4-dihydroxyphenyl)acetate A dihydroxy monocarboxylic acid anion that is the conjugate base of (3,4-dihydroxyphenyl)acetic acid, arising from deprotonation of the carboxy group. KEGG:C01161|UM-BBD_compID:c0272 hp.json 3,4-dihydroxyphenylacetate|(3,4-dihydroxyphenyl)acetate|homoprotocatechuate http://purl.obolibrary.org/obo/CHEBI_17612 3_STAR RO:0002630 biolink:NamedThing directly negatively regulates Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2. hp.json http://purl.obolibrary.org/obo/RO_0002630 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension CL:0000945 biolink:Cell lymphocyte of B lineage A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. hp.json http://purl.obolibrary.org/obo/CL_0000945 CL:0000946 biolink:Cell antibody secreting cell A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. hp.json http://purl.obolibrary.org/obo/CL_0000946 RO:0002629 biolink:NamedThing directly positively regulates Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2. hp.json http://purl.obolibrary.org/obo/RO_0002629 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension CL:0000954 biolink:Cell small pre-B-II cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. hp.json small pre-BII cell http://purl.obolibrary.org/obo/CL_0000954 CL:0000955 biolink:Cell pre-B-II cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. BTO:0001133|CALOHA:TS-0819 hp.json pre-B-lymphocyte|pre-BII cell http://purl.obolibrary.org/obo/CL_0000955 CHEBI:17634 biolink:ChemicalSubstance D-glucose A glucose with D-configuration. CAS:50-99-7|CAS:50-99-7 hp.json D(+)-glucose|D-glucose|grape sugar|D-(+)-glucose|dextrose|D-gluco-hexose|Traubenzucker http://purl.obolibrary.org/obo/CHEBI_17634 3_STAR GO:0005615 biolink:CellularComponent extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. NIF_Subcellular:sao1425028079 hp.json intercellular space http://purl.obolibrary.org/obo/GO_0005615 goslim_generic|prokaryote_subset|goslim_drosophila|goslim_chembl HP:0012187 biolink:PhenotypicFeature Increased erythrocyte protoporphyrin concentration An increased concentration of protoporphyrins in erythrocytes. UMLS:C4023007 hp.json http://purl.obolibrary.org/obo/HP_0012187 HP:0012188 biolink:PhenotypicFeature Hyperemesis gravidarum Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight. SNOMEDCT_US:14094001|UMLS:C0020450|MSH:D006939 hp.json http://purl.obolibrary.org/obo/HP_0012188 HP:0012189 biolink:PhenotypicFeature Hodgkin lymphoma A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. UMLS:C0019829|SNOMEDCT_US:70600005|SNOMEDCT_US:118602004|MSH:D006689|SNOMEDCT_US:118605002|SNOMEDCT_US:118606001|SNOMEDCT_US:118599009|SNOMEDCT_US:46923007|SNOMEDCT_US:74189002|SNOMEDCT_US:14537002 hp.json Hodgkin disease|Hodgkin's lymphoma http://purl.obolibrary.org/obo/HP_0012189 HP:0012180 biolink:PhenotypicFeature Cystic medial necrosis A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. SNOMEDCT_US:42182000|SNOMEDCT_US:45894003|SNOMEDCT_US:234021009|MSH:C536230|UMLS:C0392775 hp.json Arterial cystic medial necrosis http://purl.obolibrary.org/obo/HP_0012180 HP:0012181 biolink:PhenotypicFeature Entrapment neuropathy Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. SNOMEDCT_US:45781009|UMLS:C1510429|MSH:D009408 hp.json http://purl.obolibrary.org/obo/HP_0012181 HP:0012182 biolink:PhenotypicFeature Oropharyngeal squamous cell carcinoma A squamous cell carcinoma that originates in the oropharnyx. SNOMEDCT_US:423464009|UMLS:C0280313|SNOMEDCT_US:707585008 hp.json http://purl.obolibrary.org/obo/HP_0012182 HP:0012183 biolink:PhenotypicFeature Hyperplastic colonic polyposis Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. UMLS:C4023010 hp.json http://purl.obolibrary.org/obo/HP_0012183 HP:0012184 biolink:PhenotypicFeature Increased HDL cholesterol concentration An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. SNOMEDCT_US:238080004|UMLS:C0342883|MSH:C564591 hp.json Increased circulating high-density lipoprotein levels|High blood HDL level|Hyperalphalipoproteinemia http://purl.obolibrary.org/obo/HP_0012184 HP:0012185 biolink:PhenotypicFeature Constrictive median neuropathy Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. UMLS:C4023009 hp.json Carpal tunnel syndrome http://purl.obolibrary.org/obo/HP_0012185 HP:0012186 biolink:PhenotypicFeature Entrapment neuropathy of the ulnar nerve at elbow An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand. UMLS:C4023008 hp.json http://purl.obolibrary.org/obo/HP_0012186 HP:0000198 biolink:PhenotypicFeature Absence of Stensen duct UMLS:C1858569|UMLS:C4280674 hp.json Agenesis of parotid duct|Absence of parotid duct|Agenesis of stensen duct|Failure of development of parotid duct|Failure of development of stensen duct|Absent stensen duct|Missing parotid duct|Missing stensen duct http://purl.obolibrary.org/obo/HP_0000198 HP:0000197 biolink:PhenotypicFeature Abnormal parotid gland morphology Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. UMLS:C4025880 hp.json Abnormality of parotid gland|Anomaly of the parotid gland http://purl.obolibrary.org/obo/HP_0000197 UBERON:0007530 biolink:AnatomicalEntity migrating mesenchyme population Mesenchymal cells that are migrating. EHDAA2:0003152|AEO:0000152 hp.json http://purl.obolibrary.org/obo/UBERON_0007530 HP:0000199 biolink:PhenotypicFeature Tongue nodules UMLS:C0241438 hp.json Lingual nodules http://purl.obolibrary.org/obo/HP_0000199 HP:0000190 biolink:PhenotypicFeature Abnormal oral frenulum morphology An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. UMLS:C4025881 hp.json Abnormality of oral frenum|Abnormality of frenum of tongue|Abnormality of oral frenula|Abnormality of lingual frenum http://purl.obolibrary.org/obo/HP_0000190 HGNC:12805 biolink:Gene XDH (human) A protein coding gene XDH in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12805 HP:0000191 biolink:PhenotypicFeature Accessory oral frenulum Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. UMLS:C4021814 hp.json Accessory oral frenum|Supernumerary oral frenum|Extra oral frenum|Extra oral frenulum|Supernumerary oral frenulum|Multiple oral frenula http://purl.obolibrary.org/obo/HP_0000191 hposlim_core HP:0000194 biolink:PhenotypicFeature Open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth. SNOMEDCT_US:262016004|UMLS:C0240379 hp.json Open mouth appearance|Slack jawed appearance|Gaped jawed appearance|Open mouth|Gaped mouthed appearance http://purl.obolibrary.org/obo/HP_0000194 HP:0000193 biolink:PhenotypicFeature Bifid uvula Uvula separated into two parts most easily seen at the tip. UMLS:C0266122|SNOMEDCT_US:18910001 hp.json Uvula bifida|Split uvula|Bifid palatine uvula|Cleft of uvula|Cleft uvula|Forked uvula http://purl.obolibrary.org/obo/HP_0000193 hposlim_core HP:0000196 biolink:PhenotypicFeature Lower lip pit Depression located on the vermilion of the lower lip, usually paramedian. UMLS:C1861544 hp.json http://purl.obolibrary.org/obo/HP_0000196 HP:0012176 biolink:PhenotypicFeature Abnormal natural killer cell morphology An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. UMLS:C4021098 hp.json Abnormality of natural killer cells|Abnormal NK cells http://purl.obolibrary.org/obo/HP_0012176 HP:0012177 biolink:PhenotypicFeature Abnormal natural killer cell physiology A functional anomaly of the natural killer cell. UMLS:C4023012 hp.json http://purl.obolibrary.org/obo/HP_0012177 HP:0012178 biolink:PhenotypicFeature Reduced natural killer cell activity Reduced ability of the natural killer cell to function in the adaptive immune response. UMLS:C1839969 hp.json http://purl.obolibrary.org/obo/HP_0012178 HP:0012179 biolink:PhenotypicFeature Craniofacial dystonia A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. UMLS:C1851915|UMLS:C4023011|UMLS:C4072883 hp.json Facial Dystonia|Abnormal craniofacial muscle tone|Abnormal craniofacial posture|Distorted craniofacial posture|Abnormal facial muscle tone http://purl.obolibrary.org/obo/HP_0012179 GO:0005622 biolink:CellularComponent intracellular anatomical structure A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. Wikipedia:Intracellular hp.json nucleocytoplasm|intracellular|protoplasm|protoplast|internal to cell http://purl.obolibrary.org/obo/GO_0005622 gocheck_do_not_annotate|goslim_plant|goslim_metagenomics|goslim_chembl GO:0005623 biolink:CellularComponent obsolete cell OBSOLETE. The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. Wikipedia:Cell_(biology)|NIF_Subcellular:sao1813327414 hp.json http://purl.obolibrary.org/obo/GO_0005623 HP:0012170 biolink:PhenotypicFeature Nail-biting Habitual biting of one's own fingernails. UMLS:C0027338|MSH:D009259|ICD-10:F98.8|SNOMEDCT_US:37298006 hp.json Onychophagy|Onychophagia|Nail-biting http://purl.obolibrary.org/obo/HP_0012170 HP:0012171 biolink:PhenotypicFeature Stereotypical hand wringing Habitual clasping and squeezing of the hands. UMLS:C4023014 hp.json http://purl.obolibrary.org/obo/HP_0012171 HP:0012172 biolink:PhenotypicFeature Stereotypical body rocking Habitual repetitive movement of the body. UMLS:C4023013 hp.json http://purl.obolibrary.org/obo/HP_0012172 HP:0012173 biolink:PhenotypicFeature Orthostatic tachycardia An increase in heart rate with standing of 30 beats per minute or more. UMLS:C4021099 hp.json Postural tachycardia http://purl.obolibrary.org/obo/HP_0012173 HP:0012174 biolink:PhenotypicFeature Glioblastoma multiforme A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. UMLS:C1621958|SNOMEDCT_US:393563007|MSH:D005909|SNOMEDCT_US:63634009 hp.json Glioblastoma http://purl.obolibrary.org/obo/HP_0012174 HP:0012175 biolink:PhenotypicFeature Resistance to activated protein C Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. SNOMEDCT_US:421527008|UMLS:C0600433|MSH:D020016 hp.json Activated protein C resistance http://purl.obolibrary.org/obo/HP_0012175 UBERON:0007521 biolink:AnatomicalEntity smooth muscle sphincter A ring of smooth muscle cells whose contraction closes the opening of the ring. EHDAA2:0003143|AEO:0000143 hp.json http://purl.obolibrary.org/obo/UBERON_0007521 UBERON:0007529 biolink:AnatomicalEntity loose mesenchyme tissue Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. AEO:0000151|EHDAA2:0003151 hp.json http://purl.obolibrary.org/obo/UBERON_0007529 UBERON:0007524 biolink:AnatomicalEntity dense mesenchyme tissue Mesenchyme with little extracellular matrix. EHDAA2:0003146|AEO:0000146 hp.json http://purl.obolibrary.org/obo/UBERON_0007524 UBERON:0007522 biolink:AnatomicalEntity striated muscle sphincter A ring of striated muscle cells whose contraction closes the opening of the ring. EHDAA2:0003144|AEO:0000144 hp.json http://purl.obolibrary.org/obo/UBERON_0007522 HP:0012165 biolink:PhenotypicFeature Oligodactyly A developmental defect resulting in the presence of fewer than the normal number of digits. UMLS:C3887496 hp.json http://purl.obolibrary.org/obo/HP_0012165 HP:0012166 biolink:PhenotypicFeature Skin-picking Repetitive and compulsive picking of skin which results in tissue damage. UMLS:C1696701|ICD-10:F63.3 hp.json Compulsive skin picking|Dermatillomania http://purl.obolibrary.org/obo/HP_0012166 HP:0012167 biolink:PhenotypicFeature Hair-pulling A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss. UMLS:C0040953|MSH:D014256|SNOMEDCT_US:17155009 hp.json Trichotillomania http://purl.obolibrary.org/obo/HP_0012167 HP:0012168 biolink:PhenotypicFeature Head-banging Habitual striking of one's own head against a surface such as a mattress or wall of a crib. UMLS:C0018672|SNOMEDCT_US:43954004|MSH:D019956 hp.json Head-banging http://purl.obolibrary.org/obo/HP_0012168 HP:0012169 biolink:PhenotypicFeature Self-biting Habitual biting of one's own body. UMLS:C0424375|SNOMEDCT_US:248072009 hp.json http://purl.obolibrary.org/obo/HP_0012169 HP:0012160 biolink:PhenotypicFeature Intracranial internal carotid artery dissection A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall. UMLS:C4023017 hp.json http://purl.obolibrary.org/obo/HP_0012160 HP:0012161 biolink:PhenotypicFeature External carotid artery dissection A separation (dissection) of the layers of the external carotid artery wall. UMLS:C4023016 hp.json http://purl.obolibrary.org/obo/HP_0012161 HP:0012162 biolink:PhenotypicFeature Common carotid artery dissection A separation (dissection) of the layers of the common carotid artery wall. UMLS:C4023015 hp.json http://purl.obolibrary.org/obo/HP_0012162 HP:0012163 biolink:PhenotypicFeature Carotid artery dilatation A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. SNOMEDCT_US:233988005|UMLS:C0340639 hp.json Carotid artery aneurysm http://purl.obolibrary.org/obo/HP_0012163 HP:0012164 biolink:PhenotypicFeature Asterixis A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. SNOMEDCT_US:32838008|UMLS:C0232766|MSH:D020820 hp.json http://purl.obolibrary.org/obo/HP_0012164 HP:0000176 biolink:PhenotypicFeature Submucous cleft hard palate Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. UMLS:C4020894|SNOMEDCT_US:43437003|UMLS:C0432103 hp.json Partial thickness cleft hard palate|Submucosal cleft palate|Submucous clefting http://purl.obolibrary.org/obo/HP_0000176 HP:0000175 biolink:PhenotypicFeature Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). SNOMEDCT_US:63567004|MSH:D002972|SNOMEDCT_US:87979003|UMLS:C0008925|Fyler:4876|UMLS:C2981150 hp.json Cleft palate|Cleft hard and soft palate|Cleft of hard and soft palate|Cleft of palate|Cleft secondary palate|Uranostaphyloschisis|Cleft roof of mouth|Palatoschisis http://purl.obolibrary.org/obo/HP_0000175 hposlim_core HP:0000178 biolink:PhenotypicFeature Abnormality of lower lip An abnormality of the lower lip. UMLS:C4025883 hp.json Anomaly of the lower lip|Malformation of the lower lip|Deformity of the lower lip|Abnormality of lower lip http://purl.obolibrary.org/obo/HP_0000178 hposlim_core HP:0000177 biolink:PhenotypicFeature Abnormality of upper lip An abnormality of the upper lip. UMLS:C4025884 hp.json Deformity of the upper lip|Malformation of the upper lip|Abnormality of upper lip|Anomaly of the upper lip http://purl.obolibrary.org/obo/HP_0000177 hposlim_core HP:0000179 biolink:PhenotypicFeature Thick lower lip vermilion Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). UMLS:C2053437|UMLS:C1839739 hp.json Full lower lip|Thick red part of the lower lip|Prominent lower lip vermilion|Thick lower lip|Prominent lower lip|Increased height of lower lip vermilion|Increased volume of lower lip|Plump lower lip|Full lower lip vermilion|Increased volume of lower lip vermilion|Thick vermilion border of lower lip http://purl.obolibrary.org/obo/HP_0000179 HP:0000172 biolink:PhenotypicFeature Abnormal uvula morphology Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. UMLS:C4025885 hp.json Abnormality of the uvula|Abnormality of palatine uvula http://purl.obolibrary.org/obo/HP_0000172 hposlim_core HP:0000171 biolink:PhenotypicFeature Microglossia Decreased length and width of the tongue. UMLS:C0025988|UMLS:C0426492|SNOMEDCT_US:249380003|MSH:D014060|SNOMEDCT_US:32614006 hp.json Rudimentary tongue|Hypoplasia of the tongue|Hypoglossia|Abnormally small tongue|Small tongue|Lingual hypoplasia|Decreased size of tongue|Underdevelopment of the tongue|Hypoplastic tongue http://purl.obolibrary.org/obo/HP_0000171 hposlim_core HP:0000174 biolink:PhenotypicFeature Abnormal palate morphology Any abnormality of the palate, i.e., of roof of the mouth. UMLS:C4021815 hp.json Palatal anomaly|Palate abnormality|Abnormality of the palate|Abnormality of the roof of the mouth http://purl.obolibrary.org/obo/HP_0000174 hposlim_core GO:0005604 biolink:CellularComponent basement membrane A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. Wikipedia:Basement_membrane hp.json basal lamina|basement lamina|lamina densa http://purl.obolibrary.org/obo/GO_0005604 HP:0012154 biolink:PhenotypicFeature Anhedonia Inability to experience pleasure activities usually found enjoyable. UMLS:C0178417|SNOMEDCT_US:247796005|MSH:D059445|SNOMEDCT_US:28669007 hp.json http://purl.obolibrary.org/obo/HP_0012154 HP:0012155 biolink:PhenotypicFeature Decreased corneal sensation Reduced ability of the cornea to respond to stimulation. UMLS:C0859996|SNOMEDCT_US:373433005|UMLS:C0271292 hp.json Reduced corneal sensation|Corneal hypaesthesia|Corneal hypesthesia|Decreased corneal sensitivity http://purl.obolibrary.org/obo/HP_0012155 HP:0012156 biolink:PhenotypicFeature Hemophagocytosis Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. UMLS:C0876991|SNOMEDCT_US:61070002 hp.json http://purl.obolibrary.org/obo/HP_0012156 HP:0012157 biolink:PhenotypicFeature Subcortical cerebral atrophy Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. UMLS:C4023018 hp.json http://purl.obolibrary.org/obo/HP_0012157 HP:0012158 biolink:PhenotypicFeature Carotid artery dissection A separation (dissection) of the layers of the carotid artery wall. UMLS:C0338585 hp.json http://purl.obolibrary.org/obo/HP_0012158 HP:0012159 biolink:PhenotypicFeature Internal carotid artery dissection A separation (dissection) of the layers of the internal carotid artery wall. MSH:D020215|UMLS:C0751815|SNOMEDCT_US:705066004 hp.json http://purl.obolibrary.org/obo/HP_0012159 HP:0012150 biolink:PhenotypicFeature Single lineage myelodysplasia Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic). UMLS:C4023019 hp.json http://purl.obolibrary.org/obo/HP_0012150 HP:0012151 biolink:PhenotypicFeature Hemothorax The presence of blood in the pleural space. MSH:D006491|UMLS:C0019123|SNOMEDCT_US:31892009 hp.json http://purl.obolibrary.org/obo/HP_0012151 HP:0012152 biolink:PhenotypicFeature Foveoschisis Splitting of the retinal layers in the macula. UMLS:C2674407 hp.json Retinoschisis involving the fovea http://purl.obolibrary.org/obo/HP_0012152 HP:0012153 biolink:PhenotypicFeature Hypotriglyceridemia An decrease in the level of triglycerides in the blood. UMLS:C0542037 hp.json Low blood triglyceride levels|Decreased plasma Tg levels|Decreased circulating Tg levels http://purl.obolibrary.org/obo/HP_0012153 HP:0000187 biolink:PhenotypicFeature Broad alveolar ridges UMLS:C4280675|UMLS:C1857500 hp.json Wide alveolar margins|Broad alveolar margins|Wide alveolar processes of jaw|Widened alveolar ridges|Wide gum ridges|Broad alveolar processes of jaw http://purl.obolibrary.org/obo/HP_0000187 HP:0000189 biolink:PhenotypicFeature Narrow palate Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). UMLS:C1398312 hp.json Narrow palate|Decreased palatal width|Narrow roof of mouth|Decreased transverse dimension of palate http://purl.obolibrary.org/obo/HP_0000189 hposlim_core HP:0000188 biolink:PhenotypicFeature Short upper lip Decreased width of the upper lip. UMLS:C1848977 hp.json Decreased height of upper lip|Vertical deficiency of upper lip|Decreased upper labial height|Decreased upper labial length|Decreased vertical length of upper lip|Short upper lip|Shortening of upper lip http://purl.obolibrary.org/obo/HP_0000188 CHEBI:78574 biolink:ChemicalSubstance pyrimidinecarboxylic acid Any pyrimidine that bears one or more carboxylic acid substituents. hp.json pyrimidinecarboxylic acids http://purl.obolibrary.org/obo/CHEBI_78574 3_STAR HP:0000180 biolink:PhenotypicFeature Lobulated tongue Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. UMLS:C0431564|SNOMEDCT_US:253752000 hp.json Bumpy tongue|Lingual lobules|Lobulate tongue http://purl.obolibrary.org/obo/HP_0000180 hposlim_core HP:0000183 biolink:PhenotypicFeature Difficulty in tongue movements UMLS:C1853406|UMLS:C4280676 hp.json Hypokinesia of the tongue|Lingual hypokinesia|Difficulty in tongue movements|Difficulty in lingual movements http://purl.obolibrary.org/obo/HP_0000183 UBERON:0007503 biolink:AnatomicalEntity epithelial vesicle A closed epithelium with a lumen. EHDAA2:0003119|AEO:0000119 hp.json http://purl.obolibrary.org/obo/UBERON_0007503 HP:0000182 biolink:PhenotypicFeature Movement abnormality of the tongue UMLS:C4025882 hp.json Abnormality of lingual movement|Movement abnormality of the tongue http://purl.obolibrary.org/obo/HP_0000182 HP:0000185 biolink:PhenotypicFeature Cleft soft palate Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. MSH:C562950|SNOMEDCT_US:253997002|UMLS:C0432098 hp.json Cleft of soft palate|Cleft muscular palate|Cleft velum http://purl.obolibrary.org/obo/HP_0000185 UBERON:0007501 biolink:AnatomicalEntity arborizing epithelial duct system A collection of connected epithelial tubes with a single portal. EHDAA2:0003117|AEO:0000117 hp.json arborising epithelial duct system http://purl.obolibrary.org/obo/UBERON_0007501 UBERON:0007500 biolink:AnatomicalEntity epithelial tube open at both ends An epithelial tube open at both ends that allows fluid flow. AEO_RETIRED:0000116|RETIRED_EHDAA2:0003116 hp.json http://purl.obolibrary.org/obo/UBERON_0007500 CHEBI:30566 biolink:ChemicalSubstance gamma-aminobutyrate An gamma-amino acid anion resulting from the deprotonation of the carboxy group of gamma-aminobutyric acid. Beilstein:3536873|Reaxys:3536873|Gmelin:559138|KEGG:C00334|PMID:12509893 hp.json 4-Amino-butyrat|4-aminobutanoic acid ion (1-)|4-aminobutyrate|4-aminobutanoate|gamma-aminobutyrate anion|4-Aminobutylate|gamma-aminobutanoate http://purl.obolibrary.org/obo/CHEBI_30566 3_STAR GO:0042611 biolink:CellularComponent MHC protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. hp.json http://purl.obolibrary.org/obo/GO_0042611 goslim_pir CHEBI:17578 biolink:ChemicalSubstance toluene The simplest member of the class toluenes consisting of a benzene core which bears a single methyl substituent. PMID:12213539|CAS:108-88-3|PMID:21655021|PMID:11991009|PMID:11846266|PMID:16316648|PMID:18397809|PMID:19635754|KEGG:C01455|PMID:15695158|PMID:21731073|PMID:15119846|PMID:20347282|PMID:16348226|PMID:16601996|CAS:108-88-3|CAS:108-88-3|PMID:15019953|Beilstein:635760|DrugBank:DB01900|PMID:12876426|PMID:17145141|PMID:20837561|PMID:15542760|PMID:15567510|PMID:18832024|PMID:19969016|PMID:12784113|Reaxys:635760|PMID:19825861|PMID:19384711|PMID:15193425|PMID:12237258|PMID:14605898|PMID:19765629|Gmelin:2456|PMID:15796064|PMID:21840036|UM-BBD_compID:c0114|PMID:19928203|PMID:17725881|PMID:14559343|PMID:19429395|PMID:12062755|Wikipedia:Toluene|PMID:17175136|PMID:17497535|PMID:15015825|PMID:14512097|PMID:19261054|PMID:11314682|PDBeChem:MBN|PMID:21802510|PMID:11182169|PMID:21430649 hp.json toluene|phenylmethane|toluene|toluene|Toluol|Toluen|Toluene|methylbenzene|TOLUENE http://purl.obolibrary.org/obo/CHEBI_17578 3_STAR GO:0042613 biolink:CellularComponent MHC class II protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. hp.json http://purl.obolibrary.org/obo/GO_0042613 PR:Q10469 biolink:Protein alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (human) An alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase that is encoded in the genome of human. Reactome:R-HSA-975830|UniProtKB:Q10469 hp.json hMGAT2|beta-1,2-N-acetylglucosaminyltransferase II (human)|GlcNAc-T II (human)|MGAT2|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II (human)|GNT-II (human)|mannoside acetylglucosaminyltransferase 2 (human) http://purl.obolibrary.org/obo/PR_Q10469 GO:0042627 biolink:CellularComponent chylomicron A large lipoprotein particle (diameter 75-1200 nm) composed of a central core of triglycerides and cholesterol surrounded by a protein-phospholipid coating. The proteins include one molecule of apolipoprotein B-48 and may include a variety of apolipoproteins, including APOAs, APOCs and APOE. Chylomicrons are found in blood or lymph and carry lipids from the intestines into other body tissues. Wikipedia:Chylomicron hp.json http://purl.obolibrary.org/obo/GO_0042627 HP:0012198 biolink:PhenotypicFeature Juvenile colonic polyposis The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. UMLS:C4023006 hp.json http://purl.obolibrary.org/obo/HP_0012198 HP:0012199 biolink:PhenotypicFeature Cluster headache A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs. MSH:D003027|SNOMEDCT_US:230473009|ICD-10:G44.0|SNOMEDCT_US:193947008|SNOMEDCT_US:193031009|UMLS:C0009088 hp.json http://purl.obolibrary.org/obo/HP_0012199 RO:0012003 biolink:NamedThing acts on population of p acts on population of c iff c' is a collection, has members of type c, and p has participant c RO:0012003 hp.json http://purl.obolibrary.org/obo/RO_0012003 http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_ontology NCBITaxon:197562 biolink:OrganismalEntity Pancrustacea PMID:11557979|GC_ID:1|PMID:10874751 hp.json http://purl.obolibrary.org/obo/NCBITaxon_197562 NCBITaxon:197563 biolink:OrganismalEntity Mandibulata PMID:9727836|PMID:11557979|GC_ID:1 hp.json mandibulates http://purl.obolibrary.org/obo/NCBITaxon_197563 RO:0012008 biolink:NamedThing results in fusion of RO:0012008 hp.json http://purl.obolibrary.org/obo/RO_0012008 http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_ontology HP:0012190 biolink:PhenotypicFeature T-cell lymphoma A type of lymphoma that originates in T-cells. MSH:D016399|UMLS:C0079772|SNOMEDCT_US:3172003|SNOMEDCT_US:109978004 hp.json T cell lymphoma http://purl.obolibrary.org/obo/HP_0012190 HP:0012191 biolink:PhenotypicFeature B-cell lymphoma A type of lymphoma that originates in B-cells. UMLS:C0079731|MSH:D016393|SNOMEDCT_US:109979007|SNOMEDCT_US:1929004|SNOMEDCT_US:413616009 hp.json B cell lymphoma http://purl.obolibrary.org/obo/HP_0012191 HP:0012192 biolink:PhenotypicFeature Cutaneous T-cell lymphoma A type of T-cell lymphoma that exhibits malignant infiltration of the skin. MSH:D016410|UMLS:C0079773|SNOMEDCT_US:400122007|SNOMEDCT_US:28054005 hp.json http://purl.obolibrary.org/obo/HP_0012192 HP:0012193 biolink:PhenotypicFeature Anaplastic large-cell lymphoma A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei. UMLS:C0206180|SNOMEDCT_US:53237008|MSH:D017728|SNOMEDCT_US:277637000 hp.json http://purl.obolibrary.org/obo/HP_0012193 HP:0012194 biolink:PhenotypicFeature Episodic hemiplegia Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. UMLS:C1863061 hp.json http://purl.obolibrary.org/obo/HP_0012194 HP:0012195 biolink:PhenotypicFeature Irregular respiration Uneven rhythm of breathing. SNOMEDCT_US:248585001|UMLS:C0425492 hp.json Irregular respiratory rhythm http://purl.obolibrary.org/obo/HP_0012195 HP:0012196 biolink:PhenotypicFeature Cheyne-Stokes respiration An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes. SNOMEDCT_US:309155007|UMLS:C1313952|MSH:D002639|UMLS:C0008039|SNOMEDCT_US:271824009 hp.json Cheyne-Stokes breathing|Periodic respiration http://purl.obolibrary.org/obo/HP_0012196 HP:0012197 biolink:PhenotypicFeature Insulinoma A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. SNOMEDCT_US:25324008|UMLS:C0021670|SNOMEDCT_US:302822000|MSH:D007340 hp.json Pancreatic insulinoma http://purl.obolibrary.org/obo/HP_0012197 GO:0030659 biolink:CellularComponent cytoplasmic vesicle membrane The lipid bilayer surrounding a cytoplasmic vesicle. hp.json http://purl.obolibrary.org/obo/GO_0030659 HP:0012100 biolink:PhenotypicFeature Abnormal circulating creatinine concentration An abnormal concentration of creatinine in the blood. UMLS:C4021101 hp.json Abnormal circulating creatinine level|Abnormal blood creatinine level|Creatinine levels abnormal http://purl.obolibrary.org/obo/HP_0012100 HP:0012101 biolink:PhenotypicFeature Decreased serum creatinine An abnormally reduced amount of creatinine in the blood. UMLS:C0428282|SNOMEDCT_US:166715006 hp.json Decreased serum creatinine|Reduced creatinine levels|Low blood creatinine level http://purl.obolibrary.org/obo/HP_0012101 GO:0030658 biolink:CellularComponent transport vesicle membrane The lipid bilayer surrounding a transport vesicle. hp.json secretory vesicle membrane|constitutive secretory pathway transport vesicle membrane http://purl.obolibrary.org/obo/GO_0030658 HP:0012102 biolink:PhenotypicFeature Abnormal mitochondrial number A deviation from the normal number of mitochondria per cell. UMLS:C4023043 hp.json http://purl.obolibrary.org/obo/HP_0012102 HP:0012103 biolink:PhenotypicFeature Abnormality of the mitochondrion An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. UMLS:C4023042|UMLS:C4020732 hp.json Mitochondrial abnormalities http://purl.obolibrary.org/obo/HP_0012103 GO:0030656 biolink:BiologicalProcess regulation of vitamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. hp.json regulation of vitamin metabolism http://purl.obolibrary.org/obo/GO_0030656 HP:0012104 biolink:PhenotypicFeature Parietal cortical atrophy Atrophy of the parietal cortex. UMLS:C4023041 hp.json http://purl.obolibrary.org/obo/HP_0012104 HP:0012105 biolink:PhenotypicFeature Occipital cortical atrophy Atrophy of the occipital cortex. UMLS:C4023040 hp.json http://purl.obolibrary.org/obo/HP_0012105 HP:0012106 biolink:PhenotypicFeature Rhizomelic leg shortening Disproportionate shortening of the proximal segment of the leg (i.e. the femur). UMLS:C4023039 hp.json http://purl.obolibrary.org/obo/HP_0012106 HP:0000118 biolink:PhenotypicFeature Phenotypic abnormality A phenotypic abnormality. UMLS:C4021819 hp.json Organ abnormality http://purl.obolibrary.org/obo/HP_0000118 HP:0000117 biolink:PhenotypicFeature Renal phosphate wasting High urine phosphate in the presence of hypophosphatemia. UMLS:C1845169 hp.json Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate|Tubular phosphate reabsorption low|Decreased renal tubular phosphate reabsorption http://purl.obolibrary.org/obo/HP_0000117 HP:0002779 biolink:PhenotypicFeature Tracheomalacia UMLS:C0948187|SNOMEDCT_US:95434006|MSH:D055090 hp.json Floppy windpipe http://purl.obolibrary.org/obo/HP_0002779 HP:0000119 biolink:PhenotypicFeature Abnormality of the genitourinary system The presence of any abnormality of the genitourinary system. MSH:D014564|UMLS:C0042063|SNOMEDCT_US:42030000|SNOMEDCT_US:287085006|UMLS:C4020895|UMLS:C0080276 hp.json Genitourinary dysplasia|Abnormality of the GU system|Genitourinary disease|Genitourinary abnormality|Urogenital abnormalities|Genitourinary tract anomalies|Urogenital anomalies|Genitourinary tract malformation http://purl.obolibrary.org/obo/HP_0000119 GO:0005694 biolink:CellularComponent chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. Wikipedia:Chromosome hp.json prophase chromosome|interphase chromosome|chromatid http://purl.obolibrary.org/obo/GO_0005694 goslim_metagenomics|goslim_candida|goslim_agr|goslim_yeast|goslim_generic|goslim_pir|goslim_flybase_ribbon|goslim_drosophila|goslim_aspergillus|goslim_chembl HP:0000110 biolink:PhenotypicFeature Renal dysplasia The presence of developmental dysplasia of the kidney. MSH:C563261|SNOMEDCT_US:204949001|UMLS:C1619700|UMLS:C3536714 hp.json Renal adysplasia|Dysplastic kidneys http://purl.obolibrary.org/obo/HP_0000110 HP:0002773 biolink:PhenotypicFeature obsolete Small vertebral bodies hp.json http://purl.obolibrary.org/obo/HP_0002773 HP:0000112 biolink:PhenotypicFeature Nephropathy A nonspecific term referring to disease or damage of the kidneys. MSH:D007674|UMLS:C1408258|UMLS:C0022658|SNOMEDCT_US:90708001 hp.json Kidney disease|Kidney damage http://purl.obolibrary.org/obo/HP_0000112 HP:0000111 biolink:PhenotypicFeature Renal juxtaglomerular cell hypertrophy/hyperplasia Increased number and size of the juxtaglomerular cells. UMLS:C1866496 hp.json http://purl.obolibrary.org/obo/HP_0000111 HP:0000114 biolink:PhenotypicFeature Proximal tubulopathy Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. UMLS:C1839603 hp.json Proximal tubular defect|Proximal renal tubulopathy|Proximal tubule dysfunction|Selective proximal tubular damage|Proximal renal tubule defect http://purl.obolibrary.org/obo/HP_0000114 HP:0002777 biolink:PhenotypicFeature Tracheal stenosis UMLS:C0040583|MSH:D014135|SNOMEDCT_US:11296007 hp.json Narrowing of windpipe http://purl.obolibrary.org/obo/HP_0002777 HP:0000113 biolink:PhenotypicFeature Polycystic kidney dysplasia The presence of multiple cysts in both kidneys. Fyler:4508|SNOMEDCT_US:82525005|UMLS:C1567435|UMLS:C0022680|MSH:D007690 hp.json Polycystic kidney disease|Polycystic kidneys|Enlarged polycystic kidneys http://purl.obolibrary.org/obo/HP_0000113 HP:0002778 biolink:PhenotypicFeature Abnormal tracheal morphology A structural anomaly of the trachea. SNOMEDCT_US:47125007|MSH:D014133|UMLS:C0040580|UMLS:C4025678 hp.json Tracheal disease|Abnormality of the trachea|Abnormal trachea morphology http://purl.obolibrary.org/obo/HP_0002778 HP:0012107 biolink:PhenotypicFeature Increased fibular diameter Increased width of the cross sectional diameter of the fibula. UMLS:C4021100 hp.json Thick fibula|Wide calf bone|Wide fibula|Thick fibulae http://purl.obolibrary.org/obo/HP_0012107 HP:0012108 biolink:PhenotypicFeature Open angle glaucoma A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, MSH:C562750|SNOMEDCT_US:77075001|UMLS:C0339573 hp.json Primary open angle glaucoma http://purl.obolibrary.org/obo/HP_0012108 HP:0012109 biolink:PhenotypicFeature Angle closure glaucoma A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). UMLS:C0017606|SNOMEDCT_US:392288006 hp.json Primary angle closure glaucoma http://purl.obolibrary.org/obo/HP_0012109 GO:0030642 biolink:BiologicalProcess cellular sulfate ion homeostasis Any process involved in the maintenance of an internal steady state of sulfate ions at the level of a cell. hp.json sulphate ion homeostasis http://purl.obolibrary.org/obo/GO_0030642 GO:0030643 biolink:BiologicalProcess cellular phosphate ion homeostasis Any process involved in the maintenance of an internal steady state of phosphate ions at the level of a cell. hp.json http://purl.obolibrary.org/obo/GO_0030643 HP:0000128 biolink:PhenotypicFeature Renal potassium wasting High urine potassium in the presence of hypokalemia. UMLS:C1846348 hp.json Renal K wasting http://purl.obolibrary.org/obo/HP_0000128 GO:0003044 biolink:NamedThing regulation of systemic arterial blood pressure mediated by a chemical signal hp.json http://purl.obolibrary.org/obo/GO_0003044 HP:0000121 biolink:PhenotypicFeature Nephrocalcinosis Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. UMLS:C4280679|MSH:D009397|UMLS:C0027709|SNOMEDCT_US:48638002 hp.json Too much calcium deposited in kidneys|Increased calcium level in kidney http://purl.obolibrary.org/obo/HP_0000121 HP:0000123 biolink:PhenotypicFeature Nephritis The presence of inflammation affecting the kidney. UMLS:C0027697|MSH:D009393|SNOMEDCT_US:52845002 hp.json Kidney inflammation http://purl.obolibrary.org/obo/HP_0000123 HP:0000122 biolink:PhenotypicFeature Unilateral renal agenesis A unilateral form of agenesis of the kidney. UMLS:C0266294|SNOMEDCT_US:55726006|Fyler:4509 hp.json Absent kidney on one side|Single kidney|Missing one kidney|Unilateral kidney agenesis http://purl.obolibrary.org/obo/HP_0000122 HP:0002783 biolink:PhenotypicFeature Recurrent lower respiratory tract infections An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. SNOMEDCT_US:448739000|UMLS:C3163798|SNOMEDCT_US:50417007|UMLS:C0585953|UMLS:C0149725 hp.json Chronic lung infections|Lower respiratory tract infections|Recurrent chest infections http://purl.obolibrary.org/obo/HP_0002783 HP:0000125 biolink:PhenotypicFeature Pelvic kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. SNOMEDCT_US:56108007|UMLS:C0221209 hp.json Sacral kidney http://purl.obolibrary.org/obo/HP_0000125 HP:0002788 biolink:PhenotypicFeature Recurrent upper respiratory tract infections An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). SNOMEDCT_US:195708003|UMLS:C0581381 hp.json Recurrent URI|Recurrent upper respiratory and lower respiratory infections|Frequent upper respiratory infections|Recurrent upper respiratory infection|Frequent upper respiratory tract infections|Upper respiratory tract infections, recurrent|Upper respiratory tract infections|Recurrent colds|Recurrent upper respiratory infections http://purl.obolibrary.org/obo/HP_0002788 HP:0002789 biolink:PhenotypicFeature Tachypnea Very rapid breathing. MSH:D059246|UMLS:C0231835|SNOMEDCT_US:271823003 hp.json Increased respiratory rate or depth of breathing|Polypnea http://purl.obolibrary.org/obo/HP_0002789 HP:0000124 biolink:PhenotypicFeature Renal tubular dysfunction Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. UMLS:C0151747|SNOMEDCT_US:95568003 hp.json Renal tubular disease|Renal tubular defect|Abnormal function of filtrating structures in kidney http://purl.obolibrary.org/obo/HP_0000124 HP:0002786 biolink:PhenotypicFeature Tracheobronchomalacia Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. UMLS:C0340231|SNOMEDCT_US:233788001|MSH:D055089 hp.json http://purl.obolibrary.org/obo/HP_0002786 HP:0000127 biolink:PhenotypicFeature Renal salt wasting A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). UMLS:C1846347 hp.json Salt wasting|Renal salt-wasting|Salt-wasting|Loss of salt in urine http://purl.obolibrary.org/obo/HP_0000127 HP:0000126 biolink:PhenotypicFeature Hydronephrosis Severe distention of the kidney with dilation of the renal pelvis and calices. SNOMEDCT_US:43064006|UMLS:C0020295|Fyler:4502|MSH:D006869 hp.json http://purl.obolibrary.org/obo/HP_0000126 HP:0002787 biolink:PhenotypicFeature Tracheal calcification Calcification (abnormal deposits of calcium) in the tracheal tissues. SNOMEDCT_US:81089005|UMLS:C0264324 hp.json Tracheal calcifications|Calcification of the trachea|Tracheal ectopic calcification http://purl.obolibrary.org/obo/HP_0002787 HP:0002780 biolink:PhenotypicFeature Bronchomalacia Weakness or softness of the cartilage in the walls of the bronchial tubes. SNOMEDCT_US:54203008|MSH:D055091|UMLS:C0264353 hp.json http://purl.obolibrary.org/obo/HP_0002780 HP:0002781 biolink:PhenotypicFeature Upper airway obstruction Increased resistance to the passage of air in the upper airway. UMLS:C0740852 hp.json Upper airway obstruction http://purl.obolibrary.org/obo/HP_0002781 hposlim_core GO:0005677 biolink:CellularComponent chromatin silencing complex Any protein complex that mediates changes in chromatin structure that result in transcriptional silencing. hp.json http://purl.obolibrary.org/obo/GO_0005677 GO:0003014 biolink:BiologicalProcess renal system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). hp.json kidney system process|excretory system process http://purl.obolibrary.org/obo/GO_0003014 goslim_generic GO:0003013 biolink:BiologicalProcess circulatory system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. Wikipedia:Circulatory_system hp.json http://purl.obolibrary.org/obo/GO_0003013 goslim_chembl|goslim_generic GO:0003016 biolink:BiologicalProcess respiratory system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. hp.json respiratory gaseous exchange http://purl.obolibrary.org/obo/GO_0003016 goslim_generic GO:0003015 biolink:BiologicalProcess heart process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. hp.json cardiac process http://purl.obolibrary.org/obo/GO_0003015 GO:0003010 biolink:BiologicalProcess voluntary skeletal muscle contraction A process in which force is generated within voluntary skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the voluntary skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and it is under voluntary control. Voluntary skeletal muscle is skeletal muscle that is under conscious control. hp.json http://purl.obolibrary.org/obo/GO_0003010 HP:0002757 biolink:PhenotypicFeature Recurrent fractures The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). SNOMEDCT_US:5468008|UMLS:C3805574|MSH:D000069076|UMLS:C3806283|UMLS:C0016655|SNOMEDCT_US:134291007|UMLS:C1833752 hp.json Frequent fractures|Recurrent fractures|Varying degree of multiple fractures|Increased fractures|Multiple fractures|Increased fracture rate|Multiple spontaneous fractures http://purl.obolibrary.org/obo/HP_0002757 GO:0003012 biolink:BiologicalProcess muscle system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. hp.json muscle physiological process http://purl.obolibrary.org/obo/GO_0003012 goslim_drosophila|goslim_generic HP:0002758 biolink:PhenotypicFeature Osteoarthritis Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. MSH:D010003|SNOMEDCT_US:396275006|SNOMEDCT_US:225655006|UMLS:C0029408 hp.json Degenerative joint disease http://purl.obolibrary.org/obo/HP_0002758 HP:0002751 biolink:PhenotypicFeature Kyphoscoliosis An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. UMLS:C0575158|SNOMEDCT_US:405773007 hp.json http://purl.obolibrary.org/obo/HP_0002751 HP:0002752 biolink:PhenotypicFeature Sparse bone trabeculae UMLS:C1833324 hp.json http://purl.obolibrary.org/obo/HP_0002752 HP:0002750 biolink:PhenotypicFeature Delayed skeletal maturation A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. UMLS:C0541764|SNOMEDCT_US:123983008 hp.json Delayed bone age before puberty|Delayed bone maturation|Retarded ossification|Delayed skeletal development|Skeletal maturation retardation|Retarded bone age|Delayed bone age http://purl.obolibrary.org/obo/HP_0002750 HP:0002755 biolink:PhenotypicFeature obsolete Osteomyelitis due to immunodeficiency hp.json http://purl.obolibrary.org/obo/HP_0002755 HP:0002756 biolink:PhenotypicFeature Pathologic fracture A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. SNOMEDCT_US:268029009|SNOMEDCT_US:22640007|MSH:D005598|UMLS:C0016663 hp.json Pathologic fractures|Spontaneous fracture|Spontaneous fractures http://purl.obolibrary.org/obo/HP_0002756 HP:0002753 biolink:PhenotypicFeature Thin bony cortex Abnormal thinning of the cortical region of bones. UMLS:C1833325 hp.json Thin cortices http://purl.obolibrary.org/obo/HP_0002753 HP:0002754 biolink:PhenotypicFeature Osteomyelitis Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. SNOMEDCT_US:60168000|SNOMEDCT_US:111253001|UMLS:C2242472|MSH:D010019|UMLS:C0029443 hp.json Bone infection http://purl.obolibrary.org/obo/HP_0002754 HP:0000107 biolink:PhenotypicFeature Renal cyst A fluid filled sac in the kidney. UMLS:C0022679|MSH:D052177|UMLS:C3887499 hp.json Renal cysts|Cystic kidney disease|Kidney cyst|Cystic kidneys http://purl.obolibrary.org/obo/HP_0000107 HP:0000108 biolink:PhenotypicFeature Renal corticomedullary cysts The presence of multiple cysts at the border between the renal cortex and medulla. UMLS:C1968619 hp.json Corticomedullary renal cysts|Renal corticomedullary cystic disease http://purl.obolibrary.org/obo/HP_0000108 HP:0002762 biolink:PhenotypicFeature Multiple exostoses Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. UMLS:C0015306|MSH:D005097|SNOMEDCT_US:254044004 hp.json http://purl.obolibrary.org/obo/HP_0002762 HP:0002763 biolink:PhenotypicFeature Abnormal cartilage morphology Any morphological abnormality of cartilage. UMLS:C4025680 hp.json Abnormality of cartilage morphology|Abnormal shape of cartilage http://purl.obolibrary.org/obo/HP_0002763 HP:0000100 biolink:PhenotypicFeature Nephrotic syndrome Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. UMLS:C0027726|SNOMEDCT_US:52254009|MSH:D009404 hp.json Nephrosis http://purl.obolibrary.org/obo/HP_0000100 HP:0002761 biolink:PhenotypicFeature Generalized joint laxity Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. UMLS:C1836308 hp.json Joint laxity, generalized|Joint laxity, generalised|Generalised joint laxity|Hypermobility of all joints http://purl.obolibrary.org/obo/HP_0002761 HP:0002766 biolink:PhenotypicFeature Relatively short spine UMLS:C3277114 hp.json Relatively short spine http://purl.obolibrary.org/obo/HP_0002766 HP:0000103 biolink:PhenotypicFeature Polyuria An increased rate of urine production. SNOMEDCT_US:28442001|MSH:D011141|UMLS:C0032617|SNOMEDCT_US:56574000|SNOMEDCT_US:718402002 hp.json Increased urine output http://purl.obolibrary.org/obo/HP_0000103 HP:0000105 biolink:PhenotypicFeature Enlarged kidney An abnormal increase in the size of the kidney. SNOMEDCT_US:300444006|UMLS:C0542518 hp.json Enlarged kidney|Large kidney|Nephromegaly|Large kidneys|Renal enlargement http://purl.obolibrary.org/obo/HP_0000105 HP:0002764 biolink:PhenotypicFeature Stippled chondral calcification Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints). UMLS:C4025679 hp.json http://purl.obolibrary.org/obo/HP_0002764 HP:0000104 biolink:PhenotypicFeature Renal agenesis Agenesis, that is, failure of the kidney to develop during embryogenesis and development. SNOMEDCT_US:204942005|Fyler:4503|UMLS:C0542519 hp.json Missing kidney|Renal aplasia|Absent kidney http://purl.obolibrary.org/obo/HP_0000104 HP:0012143 biolink:PhenotypicFeature Abnormal megakaryocyte morphology Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. UMLS:C4023026 hp.json Abnormality of cells of the megakaryocyte lineage http://purl.obolibrary.org/obo/HP_0012143 HP:0012144 biolink:PhenotypicFeature Abnormal monocyte morphology Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. UMLS:C4023025 hp.json http://purl.obolibrary.org/obo/HP_0012144 HP:0012145 biolink:PhenotypicFeature Abnormality of multiple cell lineages in the bone marrow UMLS:C4023024 hp.json http://purl.obolibrary.org/obo/HP_0012145 HP:0012146 biolink:PhenotypicFeature Abnormality of von Willebrand factor Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. UMLS:C4023023 hp.json http://purl.obolibrary.org/obo/HP_0012146 HP:0012147 biolink:PhenotypicFeature Reduced quantity of Von Willebrand factor Decreased quantity of von Willebrand factor. UMLS:C1841816|UMLS:C4023022 hp.json Decreased von Willebrand factor http://purl.obolibrary.org/obo/HP_0012147 HP:0012148 biolink:PhenotypicFeature Multiple lineage myelodysplasia Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic. UMLS:C4023021 hp.json http://purl.obolibrary.org/obo/HP_0012148 HP:0012149 biolink:PhenotypicFeature Bilineage myelodysplasia Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic. UMLS:C4023020 hp.json http://purl.obolibrary.org/obo/HP_0012149 HP:0012140 biolink:PhenotypicFeature obsolete Abnormality of cells of the lymphoid lineage hp.json http://purl.obolibrary.org/obo/HP_0012140 HP:0012142 biolink:PhenotypicFeature Pancreatic squamous cell carcinoma A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. UMLS:C2675993 hp.json Squamous cell carcinoma of the pancreas http://purl.obolibrary.org/obo/HP_0012142 HP:0000154 biolink:PhenotypicFeature Wide mouth Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). SNOMEDCT_US:40159009|MSH:D008265|UMLS:C0024433 hp.json Large oral aperture|Macrostomia|Wide mouth|Broad mouth|Large mouth http://purl.obolibrary.org/obo/HP_0000154 hposlim_core HP:0000153 biolink:PhenotypicFeature Abnormality of the mouth An abnormality of the mouth. MSH:D009056|SNOMEDCT_US:128334002|UMLS:C0026633 hp.json Abnormal mouth|Abnormality of the mouth http://purl.obolibrary.org/obo/HP_0000153 hposlim_core HP:0000155 biolink:PhenotypicFeature Oral ulcer Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. SNOMEDCT_US:26284000|UMLS:C0149745|MSH:D019226 hp.json Mouth ulcer|Mouth sore|Oral mucosal ulceration http://purl.obolibrary.org/obo/HP_0000155 hposlim_core HP:0000158 biolink:PhenotypicFeature Macroglossia Increased length and width of the tongue. MSH:D008260|SNOMEDCT_US:25273001|UMLS:C0024421 hp.json Hypertrophy of the tongue|Lingual hypertrophy|Increased size of tongue|Tongue hypertrophy|Large tongue|Glossal hypertrophy|Hyperplasia of the tongue|Abnormally large tongue|Lingual hyperplasia http://purl.obolibrary.org/obo/HP_0000158 hposlim_core HP:0000157 biolink:PhenotypicFeature Abnormality of the tongue Any abnormality of the tongue. UMLS:C0878638 hp.json Abnormality of the tongue|Glossal abnormality|Tongue abnormality|Abnormal tongue|Lingual abnormality http://purl.obolibrary.org/obo/HP_0000157 hposlim_core HP:0000159 biolink:PhenotypicFeature Abnormal lip morphology An abnormality of the lip. UMLS:C2183966 hp.json Anomaly of lip|Lip abnormality|Malformation of lip|Deformity of lip|Abnormal lip|Abnormality of the lip http://purl.obolibrary.org/obo/HP_0000159 HP:0000150 biolink:PhenotypicFeature Gonadoblastoma The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. SNOMEDCT_US:74751003|UMLS:C0206661|MSH:D018238|NCIT:C3754 hp.json http://purl.obolibrary.org/obo/HP_0000150 HP:0000152 biolink:PhenotypicFeature Abnormality of head or neck An abnormality of head and neck. UMLS:C4021817 hp.json Head and neck abnormality|Abnormality of head or neck http://purl.obolibrary.org/obo/HP_0000152 HP:0000151 biolink:PhenotypicFeature Aplasia of the uterus Aplasia of the uterus. UMLS:C0425913|SNOMEDCT_US:248942000 hp.json uterus absent|Absent uterus http://purl.obolibrary.org/obo/HP_0000151 HP:0012132 biolink:PhenotypicFeature Erythroid hyperplasia Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. UMLS:C1838111|UMLS:C0014800|UMLS:C3552917 hp.json Bone marrow biopsy shows erythroid hyperplasia|Bone marrow smear shows erythroid hyperplasia http://purl.obolibrary.org/obo/HP_0012132 GO:0003007 biolink:BiologicalProcess heart morphogenesis The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. hp.json cardiac morphogenesis http://purl.obolibrary.org/obo/GO_0003007 HP:0012133 biolink:PhenotypicFeature Erythroid hypoplasia Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. UMLS:C0542035|SNOMEDCT_US:41614006|MSH:D000741|UMLS:C0178416|SNOMEDCT_US:167923006 hp.json Erythroblastopenia|Erythroid hypoplasia in the bone marrow http://purl.obolibrary.org/obo/HP_0012133 GO:0003006 biolink:BiologicalProcess developmental process involved in reproduction A developmental process in which a progressive change in the state of some part of an organism, germline or somatic, specifically contributes to its ability to form offspring. hp.json puberty|reproductive developmental process http://purl.obolibrary.org/obo/GO_0003006 GO:0003009 biolink:BiologicalProcess skeletal muscle contraction A process in which force is generated within skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and in most cases it is under voluntary control. hp.json http://purl.obolibrary.org/obo/GO_0003009 HP:0012134 biolink:PhenotypicFeature Dysplastic erythropoesis UMLS:C4023032 hp.json http://purl.obolibrary.org/obo/HP_0012134 GO:0003008 biolink:BiologicalProcess system process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. hp.json organ system process http://purl.obolibrary.org/obo/GO_0003008 HP:0012135 biolink:PhenotypicFeature Abnormal granulocytopoietic cell morphology An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. UMLS:C4023031 hp.json Abnormality of cells of the granulocytic lineage http://purl.obolibrary.org/obo/HP_0012135 HP:0012136 biolink:PhenotypicFeature Dysplastic granulopoesis UMLS:C4023030 hp.json http://purl.obolibrary.org/obo/HP_0012136 HP:0012137 biolink:PhenotypicFeature Abnormal number of granulocyte precursors UMLS:C4023029 hp.json http://purl.obolibrary.org/obo/HP_0012137 GO:0003002 biolink:BiologicalProcess regionalization The pattern specification process that results in the subdivision of an axis or axes in space to define an area or volume in which specific patterns of cell differentiation will take place or in which cells interpret a specific environment. hp.json pattern formation http://purl.obolibrary.org/obo/GO_0003002 HP:0012138 biolink:PhenotypicFeature Granulocytic hyperplasia UMLS:C4023028 hp.json http://purl.obolibrary.org/obo/HP_0012138 HP:0012139 biolink:PhenotypicFeature Granulocytic hypoplasia Decreased number of granulocyte precursors in the bone marrow. UMLS:C1534864|SNOMEDCT_US:416627004 hp.json http://purl.obolibrary.org/obo/HP_0012139 HP:0012130 biolink:PhenotypicFeature Abnormal erythroid lineage cell morphology An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. UMLS:C4020862 hp.json Abnormality of cells of the erythroid lineage http://purl.obolibrary.org/obo/HP_0012130 HP:0012131 biolink:PhenotypicFeature Abnormal number of erythroid precursors A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. UMLS:C4023033 hp.json http://purl.obolibrary.org/obo/HP_0012131 HP:0000164 biolink:PhenotypicFeature Abnormality of the dentition Any abnormality of the teeth. MSH:D014071|UMLS:C0262444|SNOMEDCT_US:422775003|UMLS:C0040427 hp.json Abnormal dentition|Dental problem|Dental abnormalities|Dental abnormality|Tooth abnormalities|Abnormality of the teeth|Abnormal teeth|Dental problems|Dental anomalies http://purl.obolibrary.org/obo/HP_0000164 hposlim_core HP:0000166 biolink:PhenotypicFeature Severe periodontitis A severe form of periodontitis. UMLS:C4025886 hp.json Severe pyorrhea|Severe gum disease|Severe periodontal disease http://purl.obolibrary.org/obo/HP_0000166 HP:0000169 biolink:PhenotypicFeature Gingival fibromatosis The presence of fibrosis of the gingiva. SNOMEDCT_US:109620006|MSH:D005351|UMLS:C0399440|NCIT:C3041|SNOMEDCT_US:58569000|MSH:C562884|UMLS:C4280677|UMLS:C0016049 hp.json Gingival fibrous nodules|Hereditary gingival fibromatosis|Idiopathic gingival hyperplasia|Gingival fibroma http://purl.obolibrary.org/obo/HP_0000169 hposlim_core HP:0000168 biolink:PhenotypicFeature Abnormality of the gingiva Any abnormality of the gingiva (also known as gums). UMLS:C4021816 hp.json Gingival abnormality|Abnormality of the gums http://purl.obolibrary.org/obo/HP_0000168 hposlim_core HP:0000161 biolink:PhenotypicFeature Median cleft lip A type of cleft lip presenting as a midline (median) gap in the upper lip. UMLS:C1850256 hp.json Central cleft upper lip|Midline cleft lip http://purl.obolibrary.org/obo/HP_0000161 hposlim_core HP:0000160 biolink:PhenotypicFeature Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). SNOMEDCT_US:14582003|MSH:D008865|UMLS:C0026034 hp.json Microstomia|Small oral aperture|Narrow mouth|Small mouth http://purl.obolibrary.org/obo/HP_0000160 hposlim_core HP:0000163 biolink:PhenotypicFeature Abnormal oral cavity morphology Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. UMLS:C4025887 hp.json Abnormality of the oral cavity http://purl.obolibrary.org/obo/HP_0000163 HP:0000162 biolink:PhenotypicFeature Glossoptosis Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. MSH:D065710|SNOMEDCT_US:3639002|UMLS:C0267048|UMLS:C4280678 hp.json Posterior displacement of the tongue|Retraction of the tongue|Lingual retraction http://purl.obolibrary.org/obo/HP_0000162 hposlim_core HP:0012121 biolink:PhenotypicFeature Panuveitis Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid. SNOMEDCT_US:75614007|MSH:D015864|UMLS:C0030343 hp.json http://purl.obolibrary.org/obo/HP_0012121 HP:0012122 biolink:PhenotypicFeature Anterior uveitis Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. SNOMEDCT_US:4927003|UMLS:C0701807 hp.json http://purl.obolibrary.org/obo/HP_0012122 HP:0012123 biolink:PhenotypicFeature Posterior uveitis Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid. UMLS:C0008526|MSH:D002833|MSH:D015866|UMLS:C0042167|SNOMEDCT_US:43363007|SNOMEDCT_US:16553002 hp.json Choroiditis http://purl.obolibrary.org/obo/HP_0012123 GO:0005635 biolink:CellularComponent nuclear envelope The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). Wikipedia:Nuclear_envelope hp.json http://purl.obolibrary.org/obo/GO_0005635 goslim_generic|goslim_plant|goslim_chembl HP:0012124 biolink:PhenotypicFeature Intermediate uveitis Inflammation of the uveal tract in which the primary site of inflammation is the vitreous. MSH:D015867|SNOMEDCT_US:314429009|UMLS:C0042166 hp.json http://purl.obolibrary.org/obo/HP_0012124 HP:0012125 biolink:PhenotypicFeature Prostate cancer A cancer of the prostate. MSH:D011471|SNOMEDCT_US:399068003|UMLS:C0376358 hp.json Prostatic cancer http://purl.obolibrary.org/obo/HP_0012125 GO:0005634 biolink:CellularComponent nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. NIF_Subcellular:sao1702920020|Wikipedia:Cell_nucleus hp.json horsetail nucleus|cell nucleus http://purl.obolibrary.org/obo/GO_0005634 goslim_generic|goslim_yeast|goslim_agr|goslim_candida|goslim_plant|goslim_pir|goslim_flybase_ribbon|goslim_drosophila|goslim_aspergillus|goslim_metagenomics|goslim_chembl|goslim_mouse HP:0012126 biolink:PhenotypicFeature Stomach cancer A cancer arising in any part of the stomach. UMLS:C0699791|SNOMEDCT_US:372143007 hp.json Gastric cancer http://purl.obolibrary.org/obo/HP_0012126 HP:0012127 biolink:PhenotypicFeature Uraciluria Increased concentration of uracil in the urine. UMLS:C4021833 hp.json High urine uracil levels http://purl.obolibrary.org/obo/HP_0012127 HP:0012128 biolink:PhenotypicFeature Basal ganglia necrosis Death of cells in the basal ganglia. UMLS:C4023035 hp.json http://purl.obolibrary.org/obo/HP_0012128 HP:0000139 biolink:PhenotypicFeature Uterine prolapse The presence of prolapse of the uterus. MSH:D014596|UMLS:C0042140|SNOMEDCT_US:24976005 hp.json Sagging uterus http://purl.obolibrary.org/obo/HP_0000139 HP:0012120 biolink:PhenotypicFeature Methylmalonic aciduria Increased concentration of methylmalonic acid in the urine. MSH:C537358|UMLS:C1855119 hp.json High blood methylmalonic acid levels|Methymalonicaciduria http://purl.obolibrary.org/obo/HP_0012120 HP:0000132 biolink:PhenotypicFeature Menorrhagia Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. UMLS:C0025323|MSH:D008595|SNOMEDCT_US:386692008 hp.json Hypermenorrhea|Abnormally heavy periods|Abnormally heavy bleeding during menstruation http://purl.obolibrary.org/obo/HP_0000132 HP:0002795 biolink:PhenotypicFeature Abnormal respiratory system physiology Fyler:4200|UMLS:C4025677 hp.json Functional respiratory abnormality|Impaired pulmonary function|Abnormal respiration|Respiratory problem http://purl.obolibrary.org/obo/HP_0002795 HP:0000131 biolink:PhenotypicFeature Uterine leiomyoma The presence of a leiomyoma of the uterus. NCIT:C3157|SNOMEDCT_US:44598004|SNOMEDCT_US:95315005|SNOMEDCT_US:146801000119103|MSH:D007889|UMLS:C0042133 hp.json Benign uterine leiomyomas|Uterine fibroid http://purl.obolibrary.org/obo/HP_0000131 HP:0000134 biolink:PhenotypicFeature Female hypogonadism Decreased functionality of the female gonads, i.e., of the ovary. SNOMEDCT_US:16041008|UMLS:C0271578 hp.json Hypogonadism, female http://purl.obolibrary.org/obo/HP_0000134 HP:0002793 biolink:PhenotypicFeature Abnormal pattern of respiration An anomaly of the rhythm or depth of breathing. UMLS:C1837388 hp.json Abnormal respiratory patterns|Abnormal pattern of respiration|Unusual breathing patterns http://purl.obolibrary.org/obo/HP_0002793 HP:0000133 biolink:PhenotypicFeature Gonadal dysgenesis UMLS:C0687149|SNOMEDCT_US:38804009|SNOMEDCT_US:205681004|SNOMEDCT_US:83579008|UMLS:C0018055|MSH:D006060|UMLS:C0018051|MSH:D006059|SNOMEDCT_US:95219002 hp.json Mixed gonadal dysgenesis|Pure gonadal dysgenesis http://purl.obolibrary.org/obo/HP_0000133 HP:0000136 biolink:PhenotypicFeature Bifid uterus The presence of a bifid uterus. UMLS:C1850327 hp.json http://purl.obolibrary.org/obo/HP_0000136 HP:0000135 biolink:PhenotypicFeature Hypogonadism A decreased functionality of the gonad. UMLS:C0020619|SNOMEDCT_US:48130008|MSH:D007006 hp.json Decreased activity of gonads http://purl.obolibrary.org/obo/HP_0000135 HP:0002797 biolink:PhenotypicFeature Osteolysis Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. MSH:D010014|UMLS:C0221204|SNOMEDCT_US:30425001|SNOMEDCT_US:203522001 hp.json Breakdown of bone|Increased bone resorption|Osteolytic defects of bones http://purl.obolibrary.org/obo/HP_0002797 HP:0000138 biolink:PhenotypicFeature Ovarian cyst The presence of one or more cysts of the ovary. SNOMEDCT_US:79883001|MSH:D010048|UMLS:C0029927 hp.json Ovarian cystic abnormality|Cystic abnormalities of the ovaries|Cystic ovaries|Ovarian cyst http://purl.obolibrary.org/obo/HP_0000138 HP:0000137 biolink:PhenotypicFeature Abnormality of the ovary An abnormality of the ovary. MSH:D010049|SNOMEDCT_US:5552004|UMLS:C0029928|UMLS:C4021818 hp.json Ovarian disease|Abnormality of the ovary|Abnormality of the ovaries http://purl.obolibrary.org/obo/HP_0000137 HP:0012129 biolink:PhenotypicFeature Abnormality of bone marrow stromal cells UMLS:C4023034 hp.json http://purl.obolibrary.org/obo/HP_0012129 HP:0002791 biolink:PhenotypicFeature Hypoventilation A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). MSH:D007040|UMLS:C0235063|SNOMEDCT_US:31515003|UMLS:C3203358|SNOMEDCT_US:15993004|MSH:D012131|SNOMEDCT_US:80954004 hp.json Respiratory depression|Alveolar hypoventilation|Under breathing|Slow breathing http://purl.obolibrary.org/obo/HP_0002791 HP:0002792 biolink:PhenotypicFeature Reduced vital capacity An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. SNOMEDCT_US:274715008|UMLS:C0476408|SNOMEDCT_US:607007|UMLS:C0520831 hp.json Decreased vital capacity http://purl.obolibrary.org/obo/HP_0002792 HP:0000130 biolink:PhenotypicFeature Abnormality of the uterus An abnormality of the uterus. UMLS:C0266383|SNOMEDCT_US:37849005|MSH:C562565 hp.json Uterine malformations|Uterine abnormalities|Abnormality of the uterus http://purl.obolibrary.org/obo/HP_0000130 HP:0002790 biolink:PhenotypicFeature Neonatal breathing dysregulation UMLS:C3806216 hp.json Impaired breathing in newborn http://purl.obolibrary.org/obo/HP_0002790 HP:0012110 biolink:PhenotypicFeature Hypoplasia of the pons Underdevelopment of the pons. UMLS:C1848529 hp.json Pontine hypoplasia http://purl.obolibrary.org/obo/HP_0012110 HP:0012111 biolink:PhenotypicFeature Abnormality of circulating glucocorticoid level An abnormality of the concentration of a glucocorticoid in the blood. UMLS:C4023038 hp.json http://purl.obolibrary.org/obo/HP_0012111 HP:0012112 biolink:PhenotypicFeature Abnormal circulating corticosterone level An abnormality of the concentration of corticosterone in the blood. UMLS:C4023037 hp.json Abnormality of circulating corticosterone level http://purl.obolibrary.org/obo/HP_0012112 HP:0012113 biolink:PhenotypicFeature Abnormal circulating creatine concentration A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells. UMLS:C4020731 hp.json Abnormality of creatine metabolism|Creatine metabolism abnormal http://purl.obolibrary.org/obo/HP_0012113 HP:0012114 biolink:PhenotypicFeature Endometrial carcinoma A carcinoma of the endometrium, the mucous lining of the uterus. SNOMEDCT_US:254878006|UMLS:C0476089|MSH:D016889 hp.json http://purl.obolibrary.org/obo/HP_0012114 HP:0012115 biolink:PhenotypicFeature Hepatitis Inflammation of the liver. SNOMEDCT_US:128241005|UMLS:C0019158|MSH:D006505 hp.json Liver inflammation http://purl.obolibrary.org/obo/HP_0012115 HP:0012116 biolink:PhenotypicFeature Abnormal circulating albumin concentration Deviation from normal concentration of albumin in the blood. UMLS:C4023036 hp.json Abnormal albumin level http://purl.obolibrary.org/obo/HP_0012116 HP:0012117 biolink:PhenotypicFeature Hyperalbuminemia Elevation in the concentration of albumin in the blood. UMLS:C1142113|SNOMEDCT_US:119248009 hp.json Hyperalbuminaemia|High blood albumin levels|High albumin http://purl.obolibrary.org/obo/HP_0012117 GO:0005640 biolink:CellularComponent nuclear outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes. NIF_Subcellular:sao1617136075 hp.json perinuclear membrane|nucleus outer envelope http://purl.obolibrary.org/obo/GO_0005640 HP:0000143 biolink:PhenotypicFeature Rectovaginal fistula The presence of a fistula between the vagina and the rectum. SNOMEDCT_US:65619001|MSH:D012006|UMLS:C0034895|MEDDRA:10051097 hp.json Abnormal connection between rectum and vagina http://purl.obolibrary.org/obo/HP_0000143 hposlim_core HP:0000142 biolink:PhenotypicFeature Abnormal vagina morphology Any structural abnormality of the vagina. UMLS:C1856023 hp.json Vaginal malformation http://purl.obolibrary.org/obo/HP_0000142 HP:0000145 biolink:PhenotypicFeature Transverse vaginal septum UMLS:C1856006 hp.json Transverse vaginal membrane http://purl.obolibrary.org/obo/HP_0000145 HP:0000144 biolink:PhenotypicFeature Decreased fertility SNOMEDCT_US:17276009|UMLS:C0520927 hp.json Decreased fertility|Abnormal fertility http://purl.obolibrary.org/obo/HP_0000144 HP:0000147 biolink:PhenotypicFeature Polycystic ovaries MSH:D011085|SNOMEDCT_US:69878008|UMLS:C0032460|UMLS:C1136382 hp.json Sclerocystic ovaries|Polycystic ovary disease|Polycystic ovary http://purl.obolibrary.org/obo/HP_0000147 HP:0000149 biolink:PhenotypicFeature Ovarian gonadoblastoma The presence of a gonadoblastoma of the ovary. UMLS:C1518716|SNOMEDCT_US:716594002|NCIT:C3754 hp.json Gonadoblastoma, female http://purl.obolibrary.org/obo/HP_0000149 HP:0000148 biolink:PhenotypicFeature Vaginal atresia Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. SNOMEDCT_US:87380008|UMLS:C1321884 hp.json Abnormally closed or absent vagina http://purl.obolibrary.org/obo/HP_0000148 HP:0012118 biolink:PhenotypicFeature Laryngeal carcinoma A carcinoma of the larynx. SNOMEDCT_US:276975007|UMLS:C0595989 hp.json Cancer of the larynx|Laryngeal cancer http://purl.obolibrary.org/obo/HP_0012118 HP:0012119 biolink:PhenotypicFeature Methemoglobinemia Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues. SNOMEDCT_US:38959009|SNOMEDCT_US:131171006|MSH:D008708|UMLS:C0025637 hp.json http://purl.obolibrary.org/obo/HP_0012119 HP:0000141 biolink:PhenotypicFeature Amenorrhea Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. UMLS:C2219717 hp.json Abnormal absence of menstruation http://purl.obolibrary.org/obo/HP_0000141 HP:0000140 biolink:PhenotypicFeature Abnormality of the menstrual cycle An abnormality of the ovulation cycle. UMLS:C4025888|UMLS:C3549779 hp.json Abnormality of the menstrual cycle|Menstrual abnormalities http://purl.obolibrary.org/obo/HP_0000140 CL:0000806 biolink:Cell DN2 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. hp.json TN2 cell|DN2 cell|DN2 immature T cell|preT.DN2.Th|DN2 alpha-beta immature T-cell|TN2 thymocyte|double negative 2|DN2 alpha-beta immature T lymphocyte|DN2 alpha-beta immature T-lymphocyte http://purl.obolibrary.org/obo/CL_0000806 CL:0000807 biolink:Cell DN3 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. hp.json DN3 immature T cell|DN3 cell|TN3 cell|TN3 thymocyte|double negative 3|preT.DN3.Th|DN3 alpha-beta immature T-cell|DN3 alpha-beta immature T lymphocyte|early cortical thymocyte|DN3 alpha-beta immature T-lymphocyte http://purl.obolibrary.org/obo/CL_0000807 CL:0000808 biolink:Cell DN4 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. hp.json DN4 immature T cell|DN4 immature T-cell|DN4 cell|double negative 4|DN4 alpha-beta immature T lymphocyte|early cortical thymocyte|T.DN4.th|DN4 alpha-beta immature T-lymphocyte http://purl.obolibrary.org/obo/CL_0000808 CL:0000809 biolink:Cell double-positive, alpha-beta thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. hp.json late cortical thymocyte|DP thymocyte|double-positive, alpha-beta immature T lymphocyte|DP cell http://purl.obolibrary.org/obo/CL_0000809 HP:0002936 biolink:PhenotypicFeature Distal sensory impairment An abnormal reduction in sensation in the distal portions of the extremities. UMLS:C1847584 hp.json Decreased sensation in extremities|Distal sensory impairment in lower limbs|Loss of distal sensation|Decreased distal sensation|Distal sensory loss, upper and lower limbs|Distal sensation loss|Distal sensory loss|Distal sensory impairment of the lower extremities http://purl.obolibrary.org/obo/HP_0002936 HP:0002933 biolink:PhenotypicFeature Ventral hernia Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall. MSH:D006555|UMLS:C0019326|SNOMEDCT_US:414396006 hp.json http://purl.obolibrary.org/obo/HP_0002933 HP:0002937 biolink:PhenotypicFeature Hemivertebrae Absence of one half of the vertebral body. UMLS:C0265677|SNOMEDCT_US:68359008 hp.json Missing part of vertebrae|Hemi-vertebrae|Hemivertebra http://purl.obolibrary.org/obo/HP_0002937 hposlim_core CL:0000805 biolink:Cell immature single positive thymocyte A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. hp.json immature single positive T lymphocyte|immature single positive T-lymphocyte|ISP|T.ISP.th|immature single positive T cell http://purl.obolibrary.org/obo/CL_0000805 HP:0002938 biolink:PhenotypicFeature Lumbar hyperlordosis An abnormal accentuation of the inward curvature of the spine in the lumbar region. UMLS:C1184923 hp.json Excessive inward curvature of lower spine|Prominent lumbar lordosis|Increased lumbar lordosis|Lumbar lordosis|Exaggerated lumbar lordosis http://purl.obolibrary.org/obo/HP_0002938 HP:0002932 biolink:PhenotypicFeature Aldehyde oxidase deficiency A reduction in aldehyde oxidase level. SNOMEDCT_US:124161002|UMLS:C1291266 hp.json http://purl.obolibrary.org/obo/HP_0002932 HP:0002930 biolink:PhenotypicFeature Impaired sensitivity to thyroid hormone Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone. SNOMEDCT_US:111567006|UMLS:C2940786|SNOMEDCT_US:237559000|SNOMEDCT_US:50375007|SNOMEDCT_US:237560005|MSH:D018382 hp.json Elevated serum levels of free thyroid hormone with nonsuppressed TSH|Thyroid hormone resistance|End-organ unresponsiveness to thyroid hormone|Thyroid hormone receptor defect|Resistance to thyroid hormone http://purl.obolibrary.org/obo/HP_0002930 CL:0000817 biolink:Cell precursor B cell A precursor B cell is a B cell with the phenotype CD10-positive. BTO:0001133|CALOHA:TS-0819 hp.json pre-B cell http://purl.obolibrary.org/obo/CL_0000817 CL:0000818 biolink:Cell transitional stage B cell An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. hp.json transitional B cell|transitional stage B-lymphocyte|T1 B cell|T2 B cell|T3 B cell|transitional stage B-cell|transitional stage B lymphocyte http://purl.obolibrary.org/obo/CL_0000818 HP:0002946 biolink:PhenotypicFeature Supernumerary vertebrae UMLS:C0265681|SNOMEDCT_US:87294007 hp.json http://purl.obolibrary.org/obo/HP_0002946 CL:0000810 biolink:Cell CD4-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD4-positive and CD8-negative. hp.json CD4-positive, alpha-beta immature T-cell|CD4-positive, alpha-beta immature T lymphocyte|SP CD4 cell|CD4-positive, alpha-beta immature T-lymphocyte http://purl.obolibrary.org/obo/CL_0000810 HP:0002947 biolink:PhenotypicFeature Cervical kyphosis Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. UMLS:C0575170|SNOMEDCT_US:298393001 hp.json Rounded neck http://purl.obolibrary.org/obo/HP_0002947 HP:0002944 biolink:PhenotypicFeature Thoracolumbar scoliosis UMLS:C0749379 hp.json Scoliosis, thoracolumbar http://purl.obolibrary.org/obo/HP_0002944 CL:0000811 biolink:Cell CD8-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD8-positive and CD4-negative. hp.json CD8-positive, alpha-beta immature T-cell|CD8-positive, alpha-beta immature T lymphocyte|CD8-positive, alpha-beta immature T cell|SP CD8 cell|CD8-positive, alpha-beta immature T-lymphocyte http://purl.obolibrary.org/obo/CL_0000811 HP:0002945 biolink:PhenotypicFeature Intervertebral space narrowing Decreased height of the intervertebral disk. UMLS:C0263870|SNOMEDCT_US:11301007 hp.json Narrow intervertebral spaces|Narrow intervertebral disc spaces http://purl.obolibrary.org/obo/HP_0002945 CL:0000813 biolink:Cell memory T cell A long-lived, antigen-experienced T cell that has acquired a memory phenotype including distinct surface markers and the ability to differentiate into an effector T cell upon antigen reexposure. BTO:0003435 hp.json memory T-cell|memory T lymphocyte|memory T-lymphocyte http://purl.obolibrary.org/obo/CL_0000813 HP:0002948 biolink:PhenotypicFeature Vertebral fusion A developmental defect leading to the union of two adjacent vertebrae. UMLS:C1849073|UMLS:C3278509|UMLS:C1835763 hp.json Fusion of vertebral bodies|Spinal fusion|Fused vertebrae|Vertebral body fusion http://purl.obolibrary.org/obo/HP_0002948 hposlim_core CL:0000815 biolink:Cell regulatory T cell A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release. BTO:0004520|FMA:84070 hp.json suppressor T cell|suppressor T-cell|suppressor T lymphocyte|suppressor T-lymphocyte|regulatory T-cell|regulatory T lymphocyte|Treg|regulatory T-lymphocyte http://purl.obolibrary.org/obo/CL_0000815 HP:0002949 biolink:PhenotypicFeature Fused cervical vertebrae A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. UMLS:C3887527 hp.json Cervical vertebral fusion|Fused neck|Fusion of cervical vertebrae|Cervical spine fusion http://purl.obolibrary.org/obo/HP_0002949 CL:0000816 biolink:Cell immature B cell An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. hp.json newly formed B cell|immature B-cell|immature B lymphocyte|immature B-lymphocyte http://purl.obolibrary.org/obo/CL_0000816 HP:0002942 biolink:PhenotypicFeature Thoracic kyphosis Over curvature of the thoracic region, leading to a round back or if sever to a hump. UMLS:C1184919 hp.json Exaggerated thoracic kyphosis|Accentuated thoracic kyphosis http://purl.obolibrary.org/obo/HP_0002942 HP:0002943 biolink:PhenotypicFeature Thoracic scoliosis UMLS:C1857790 hp.json http://purl.obolibrary.org/obo/HP_0002943 OBO:uberon/core#posteriorly_connected_to biolink:NamedThing posteriorly connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. hp.json http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to HP:0002919 biolink:PhenotypicFeature Ketonuria High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. SNOMEDCT_US:274783007|UMLS:C0162275|MSH:D007662|SNOMEDCT_US:36815008 hp.json Ketoaciduria|Acetonuria|Ketonaciduria|Ketone bodies in urine http://purl.obolibrary.org/obo/HP_0002919 HP:0002913 biolink:PhenotypicFeature Myoglobinuria Presence of myoglobin in the urine. UMLS:C0027080|MSH:D009212|SNOMEDCT_US:48165008 hp.json http://purl.obolibrary.org/obo/HP_0002913 HP:0002914 biolink:PhenotypicFeature Hyperchloriduria An increased concentration of chloride in the urine. UMLS:C1846352 hp.json Increased urinary chloride http://purl.obolibrary.org/obo/HP_0002914 HP:0002912 biolink:PhenotypicFeature Methylmalonic acidemia Increased concentration of methylmalonic acid in the blood. SNOMEDCT_US:42393006|MSH:C537358|UMLS:C0268583 hp.json Elevated circulating methylmalonic acid concentration http://purl.obolibrary.org/obo/HP_0002912 HP:0002917 biolink:PhenotypicFeature Hypomagnesemia An abnormally decreased magnesium concentration in the blood. SNOMEDCT_US:190855004|UMLS:C0151723 hp.json Low blood magnesium levels|Low blood Mg levels http://purl.obolibrary.org/obo/HP_0002917 HP:0002918 biolink:PhenotypicFeature Hypermagnesemia An abnormally increased magnesium concentration in the blood. SNOMEDCT_US:66978005|UMLS:C0151714 hp.json High blood magnesium levels|High blood Mg levels http://purl.obolibrary.org/obo/HP_0002918 HP:0002916 biolink:PhenotypicFeature Abnormality of chromosome segregation An abnormality of chromosome segregation. UMLS:C4025670 hp.json http://purl.obolibrary.org/obo/HP_0002916 HP:0002910 biolink:PhenotypicFeature Elevated hepatic transaminase Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. UMLS:C0086565|UMLS:C0438717|MSH:D008107|SNOMEDCT_US:166643006|UMLS:C0235996|UMLS:C0877359|UMLS:C1842003|UMLS:C1848701|UMLS:C0438237|SNOMEDCT_US:166603001|UMLS:C0151766|SNOMEDCT_US:75183008 hp.json Increased liver function tests|Abnormal liver enzymes|Raised liver enzymes|Subclinical abnormal liver function tests|Increased transaminases|Abnormal liver function tests|Increased liver enzymes|Elevated serum transaminases|Abnormal liver function|Elevated liver function tests|Elevated transaminases|Elevated liver enzymes|High liver enzymes http://purl.obolibrary.org/obo/HP_0002910 HP:0002924 biolink:PhenotypicFeature obsolete Decreased circulating aldosterone level hp.json http://purl.obolibrary.org/obo/HP_0002924 HP:0002925 biolink:PhenotypicFeature Elevated circulating thyroid-stimulating hormone concentration Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. UMLS:C0586553|SNOMEDCT_US:309080005 hp.json Elevated thyroid stimulating hormone levels|Increased serum thyroid-stimulating hormone|Elevated thyroid stimulating hormone|Thyroid-stimulating hormone excess|Increased thyroid-stimulating hormone level|Increased thyrotropin level|Increased thyroid-stimulating hormone|TSH excess|High TSH http://purl.obolibrary.org/obo/HP_0002925 HP:0002922 biolink:PhenotypicFeature Increased CSF protein Increased concentration of protein in the cerebrospinal fluid. UMLS:C1806780 hp.json Spinal fluid protein elevated|Hyperproteinorrhachia|Elevated cerebrospinal fluid protein|Cerebrospinal fluid with increased protein|Increased protein in csf|Cerebrospinal fluid protein increased|Elevated csf protein http://purl.obolibrary.org/obo/HP_0002922 HP:0002923 biolink:PhenotypicFeature Rheumatoid factor positive The presence in the serum of an autoantibody directed against the Fc portion of IgG. UMLS:C0151379|SNOMEDCT_US:165839004 hp.json http://purl.obolibrary.org/obo/HP_0002923 HP:0002928 biolink:PhenotypicFeature Decreased activity of the pyruvate dehydrogenase complex UMLS:C1839888 hp.json Pyruvate dehydrogenase complex deficiency|Decreased activity of the PDH complex http://purl.obolibrary.org/obo/HP_0002928 HP:0002929 biolink:PhenotypicFeature Leydig cell insensitivity to gonadotropin UMLS:C4025668 hp.json http://purl.obolibrary.org/obo/HP_0002929 HP:0002926 biolink:PhenotypicFeature Abnormality of thyroid physiology An abnormal functionality of the thyroid gland. UMLS:C0857576 hp.json Abnormal thyroid function http://purl.obolibrary.org/obo/HP_0002926 HP:0002927 biolink:PhenotypicFeature Histidinuria An increased concentration of histidine in the urine. SNOMEDCT_US:78311009|UMLS:C0268642|MSH:C538321 hp.json High urine histidine levels|Elevated histidine in urine http://purl.obolibrary.org/obo/HP_0002927 HP:0002920 biolink:PhenotypicFeature Decreased circulating ACTH level An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. UMLS:C4025669 hp.json http://purl.obolibrary.org/obo/HP_0002920 HP:0002921 biolink:PhenotypicFeature Abnormality of the cerebrospinal fluid An abnormality of the cerebrospinal fluid (CSF). UMLS:C0151583 hp.json Abnormal CSF findings|Abnormality of the CSF http://purl.obolibrary.org/obo/HP_0002921 HP:0012300 biolink:PhenotypicFeature Ureteral agenesis Failure of the ureter to undergo development. UMLS:C4022959 hp.json http://purl.obolibrary.org/obo/HP_0012300 HP:0012301 biolink:PhenotypicFeature Type II transferrin isoform profile Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. UMLS:C4021094 hp.json Abnormal isoelectric focusing of serum transferrin, type II pattern|Abnormal isoelectric focusing of serum transferrin, type 2 pattern|Isoelectric focusing of serum transferrin consistent with CDG type II|Type 2 transferrin isoform profile http://purl.obolibrary.org/obo/HP_0012301 HP:0012302 biolink:PhenotypicFeature Herpes simplex encephalitis Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction. SNOMEDCT_US:428638009|UMLS:C0276226|MSH:D020803 hp.json Herpes encephalitis http://purl.obolibrary.org/obo/HP_0012302 HP:0012303 biolink:PhenotypicFeature Abnormal aortic arch morphology An anomaly of the arch of aorta. UMLS:C3163801|SNOMEDCT_US:448742006|Fyler:2700 hp.json Abnormality of the aortic arch http://purl.obolibrary.org/obo/HP_0012303 HP:0012304 biolink:PhenotypicFeature Hypoplastic aortic arch Underdevelopment of the arch of aorta. Fyler:2704|SNOMEDCT_US:60787001|UMLS:C0265881 hp.json Aortic arch hypoplasia|Underdeveloped aortic arch http://purl.obolibrary.org/obo/HP_0012304 GO:0003197 biolink:BiologicalProcess endocardial cushion development The progression of a cardiac cushion over time, from its initial formation to the mature structure. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. hp.json http://purl.obolibrary.org/obo/GO_0003197 HP:0000316 biolink:PhenotypicFeature Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). SNOMEDCT_US:22006008|UMLS:C0020534|SNOMEDCT_US:194021007|MSH:D006972 hp.json Increased interpupillary distance|Excessive orbital separation|Increased distance between eye sockets|Widened interpupillary distance|Wide-set eyes|Increased distance between eyes|Ocular hypertelorism|Widely spaced eyes http://purl.obolibrary.org/obo/HP_0000316 hposlim_core HP:0002979 biolink:PhenotypicFeature Bowing of the legs A bending or abnormal curvature affecting a long bone of the leg. MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755 hp.json Bowed legs|Bow-leggedness|Bowed lower limbs|Bow legs http://purl.obolibrary.org/obo/HP_0002979 HP:0000315 biolink:PhenotypicFeature Abnormality of the orbital region UMLS:C4025863 hp.json Abnormality of the eye region|Malformation of the orbital region of the face|Deformity of the orbital region of the face|Anomaly of the orbital region of the face|Abnormality of the region around the eyes http://purl.obolibrary.org/obo/HP_0000315 HP:0002977 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the central nervous system Absence or underdevelopment of tissue in the central nervous system. UMLS:C4025665 hp.json Absent/underdeveloped central nervous system tissue|Aplasia/Hypoplasia involving the CNS http://purl.obolibrary.org/obo/HP_0002977 HP:0000317 biolink:PhenotypicFeature Facial myokymia Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). MSH:D005155|SNOMEDCT_US:1070000|UMLS:C0270871 hp.json Involuntary facial contraction|Involuntary facial quivering http://purl.obolibrary.org/obo/HP_0000317 HP:0000319 biolink:PhenotypicFeature Smooth philtrum Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. UMLS:C1142533 hp.json Flat philtrum|Shallow philtrum|Philtrum, smooth|Indistinct philtrum|Simple philtrum|Decreased depth of philtrum http://purl.obolibrary.org/obo/HP_0000319 HP:0002971 biolink:PhenotypicFeature Absent microvilli on the surface of peripheral blood lymphocytes Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes. UMLS:C1833173 hp.json http://purl.obolibrary.org/obo/HP_0002971 HP:0002972 biolink:PhenotypicFeature Reduced delayed hypersensitivity Decreased ability to react to a delayed hypersensitivity skin test. UMLS:C1843386 hp.json Deficiency of delayed skin hypersensitivity|Impaired delayed hypersensitivity|Decreased reactivity to skin test antigens http://purl.obolibrary.org/obo/HP_0002972 HP:0002970 biolink:PhenotypicFeature Genu varum A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755 hp.json Genu vara|Outward bow-leggedness|Outward bowing at knees|Genua vara http://purl.obolibrary.org/obo/HP_0002970 hposlim_core HP:0000311 biolink:PhenotypicFeature Round face The facial appearance is more circular than usual as viewed from the front. UMLS:C1856468|UMLS:C0239479 hp.json Round facial shape|Circular face|Round face|Round facies|Round, full face|Round facial appearance http://purl.obolibrary.org/obo/HP_0000311 hposlim_core HP:0002973 biolink:PhenotypicFeature Abnormal forearm morphology An abnormality of the lower arm. UMLS:C4025666 hp.json Abnormality of the forearm http://purl.obolibrary.org/obo/HP_0002973 hposlim_core HP:0002974 biolink:PhenotypicFeature Radioulnar synostosis An abnormal osseous union (fusion) between the radius and the ulna. UMLS:C0158761|MSH:C562408|SNOMEDCT_US:33313004|MEDDRA:10037798 hp.json Fused forearm bones http://purl.obolibrary.org/obo/HP_0002974 hposlim_core HP:0012305 biolink:PhenotypicFeature Coarctation of the descending aortic arch Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. UMLS:C4022958 hp.json http://purl.obolibrary.org/obo/HP_0012305 HP:0012306 biolink:PhenotypicFeature Abnormal rib ossification An anomaly of the process of rib bone formation. UMLS:C4022957 hp.json Abnormal maturation of rib bones http://purl.obolibrary.org/obo/HP_0012306 HP:0012307 biolink:PhenotypicFeature Spatulate ribs Ribs that are increased in width and taper to the posterior ends. UMLS:C1856637 hp.json http://purl.obolibrary.org/obo/HP_0012307 HP:0012308 biolink:PhenotypicFeature Decreased serum complement C9 A reduced level of the complement component C9 in circulation. UMLS:C4021093 hp.json Decreased serum C9 http://purl.obolibrary.org/obo/HP_0012308 HP:0012309 biolink:PhenotypicFeature Cutaneous amyloidosis The presence of amyloid deposition in the superficial dermis. SNOMEDCT_US:281882003|UMLS:C0268397|SNOMEDCT_US:282834007|SNOMEDCT_US:201337008|MSH:C562642|SNOMEDCT_US:718105008 hp.json http://purl.obolibrary.org/obo/HP_0012309 HP:0000327 biolink:PhenotypicFeature Hypoplasia of the maxilla Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. UMLS:C4280643|UMLS:C4280642|UMLS:C4280641|UMLS:C4280640|UMLS:C4082243|UMLS:C0240310 hp.json Retrognathia of upper jaw|Decreased size of upper jaw|Retrusion of upper jaw bones|Hypotrophic maxilla|Maxillary retrusion|Micromaxilla|Hypoplastic maxillary bones|Upper jaw retrusion|Small upper jaw|Small upper jaw bones|Maxillary retrognathia|Decreased projection of upper jaw|Decreased size of maxilla|Upper jaw deficiency|Maxillary deficiency|Maxillary hypoplasia|Hypoplasia of upper jaw bones|Deficiency of upper jaw bones|Small maxilla|Hypotrophic upper jaw bones|Maxillary micrognathia|Decreased projection of maxilla http://purl.obolibrary.org/obo/HP_0000327 hposlim_core HP:0000326 biolink:PhenotypicFeature Abnormality of the maxilla An abnormality of the Maxilla (upper jaw bone). UMLS:C4025862 hp.json Deformity of the maxilla|Abnormality of the upper jaw bone|Anomaly of the maxilla|Deformity of the upper jaw bones|Malformation of the upper jaw bones|Abnormality of the upper jaw bones|Malformation of the maxilla http://purl.obolibrary.org/obo/HP_0000326 hposlim_core HP:0000329 biolink:PhenotypicFeature Facial hemangioma Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. UMLS:C1861443 hp.json Facial hemangiomata http://purl.obolibrary.org/obo/HP_0000329 HP:0002982 biolink:PhenotypicFeature Tibial bowing A bending or abnormal curvature of the tibia. UMLS:C1837081 hp.json Bowed shankbone|Bowed tibia|Bowed shinbone|Bowing of the tibia http://purl.obolibrary.org/obo/HP_0002982 hposlim_core HP:0002983 biolink:PhenotypicFeature Micromelia The presence of abnormally small extremities. SNOMEDCT_US:74370006|UMLS:C0025995|MEDDRA:10027546 hp.json Smaller or shorter than typical limbs http://purl.obolibrary.org/obo/HP_0002983 hposlim_core HP:0000321 biolink:PhenotypicFeature Square face Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. UMLS:C1832127 hp.json Square facies|Square facial shape|Square face http://purl.obolibrary.org/obo/HP_0000321 HP:0002980 biolink:PhenotypicFeature Femoral bowing Bowing (abnormal curvature) of the femur. UMLS:C1859461 hp.json Bowed femurs|Bowed femura|Bowed thighbone|Bowed femur http://purl.obolibrary.org/obo/HP_0002980 hposlim_core HP:0002981 biolink:PhenotypicFeature Abnormality of the calf An abnormality of the calf, i.e. of the posterior part of the lower leg. UMLS:C4021832 hp.json Abnormality of the calf http://purl.obolibrary.org/obo/HP_0002981 HP:0000320 biolink:PhenotypicFeature Bird-like facies UMLS:C1837758 hp.json Bird-like facial appearance http://purl.obolibrary.org/obo/HP_0000320 HP:0002986 biolink:PhenotypicFeature Radial bowing A bending or abnormal curvature of the radius. UMLS:C1859399 hp.json Bowing of outer large bone of the forearm|Bowing of radius bone of the forearm|Bowed radii|Bowed radius http://purl.obolibrary.org/obo/HP_0002986 hposlim_core HP:0000322 biolink:PhenotypicFeature Short philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. UMLS:C1861324 hp.json Decreased height of philtrum|Decreased length of philtrum|Vertical hypoplasia of philtrum|Decreased vertical dimension of philtrum http://purl.obolibrary.org/obo/HP_0000322 hposlim_core HP:0002987 biolink:PhenotypicFeature Elbow flexion contracture An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. UMLS:C0409338|SNOMEDCT_US:202271004 hp.json Fixed flexion at the elbow joint|Elbow flexion deformity|Elbow flexion contractures http://purl.obolibrary.org/obo/HP_0002987 HP:0002984 biolink:PhenotypicFeature Hypoplasia of the radius Underdevelopment of the radius. UMLS:C1840087|UMLS:C0685381|SNOMEDCT_US:93288001|SNOMEDCT_US:205170001 hp.json Hypoplastic radii|Hypoplastic radius|Short radii|Shortening of radius|Radial ray hypoplasia|Underdeveloped outer large forearm bone|Radial hypoplasia|Short radius http://purl.obolibrary.org/obo/HP_0002984 hposlim_core HP:0000325 biolink:PhenotypicFeature Triangular face Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. UMLS:C1835884 hp.json Face with broad temples and narrow chin|Triangular facial shape|Triangular face|Triangular facies http://purl.obolibrary.org/obo/HP_0000325 hposlim_core HP:0000324 biolink:PhenotypicFeature Facial asymmetry An abnormal difference between the left and right sides of the face. UMLS:C1306710|SNOMEDCT_US:15253005|MSH:D005146 hp.json Asymmetry of right and left side of face|Unequal sides of face|Facial asymmetry|Unbalanced face|Uneven face|Unsymmetrical face|Asymmetry of face|Crooked face|Asymmetric facies|Uneven sides of face http://purl.obolibrary.org/obo/HP_0000324 hposlim_core HP:0002958 biolink:PhenotypicFeature Immune dysregulation Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. UMLS:C1844666 hp.json Unregulated immune response|Immune dysregulation http://purl.obolibrary.org/obo/HP_0002958 HP:0002955 biolink:PhenotypicFeature Granulomatosis A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. SNOMEDCT_US:44328006|UMLS:C0521173|SNOMEDCT_US:443138004 hp.json http://purl.obolibrary.org/obo/HP_0002955 HP:0002959 biolink:PhenotypicFeature Impaired Ig class switch recombination An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. UMLS:C1842528 hp.json Impaired B-lymphocyte isotype switching http://purl.obolibrary.org/obo/HP_0002959 HP:0002953 biolink:PhenotypicFeature Vertebral compression fracture UMLS:C0410550|SNOMEDCT_US:42942008|SNOMEDCT_US:84138006|UMLS:C0262431 hp.json Vertebral body compression|Vertebral compression fractures|Vertebral compression|Vertebral compression or collapse|Vertebral collapse|Compression fracture of a vertebral body|Fractures of vertebral bodies http://purl.obolibrary.org/obo/HP_0002953 HP:0002951 biolink:PhenotypicFeature Partial absence of cerebellar vermis Congenital absence of a part of the vermis of cerebellum. UMLS:C4025667 hp.json http://purl.obolibrary.org/obo/HP_0002951 HP:0000307 biolink:PhenotypicFeature Pointed chin A marked tapering of the lower face to the chin. UMLS:C1844505 hp.json Small pointed chin|Pointy chin|Pointed mention region|Pointed chin|Witch's chin http://purl.obolibrary.org/obo/HP_0000307 hposlim_core HP:0000306 biolink:PhenotypicFeature Abnormality of the chin An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. UMLS:C4025864 hp.json Abnormality of the menton|Malformation of the chin|Deformity of the chin|Anomaly of the chin|Abnormality of the chin http://purl.obolibrary.org/obo/HP_0000306 hposlim_core HP:0002967 biolink:PhenotypicFeature Cubitus valgus Abnormal positioning in which the elbows are turned out. UMLS:C0158465|SNOMEDCT_US:54583007 hp.json Outward turned elbows http://purl.obolibrary.org/obo/HP_0002967 hposlim_core HP:0000309 biolink:PhenotypicFeature Abnormal midface morphology An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. UMLS:C4021811 hp.json Abnormality of the midface|Anomaly of the midface|Abnormal morphology of the midface|Malformation of the midface|Deformity of the midface http://purl.obolibrary.org/obo/HP_0000309 HP:0000308 biolink:PhenotypicFeature Microretrognathia A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. UMLS:C1839546 hp.json Retromicrognathia|Small retruded chin http://purl.obolibrary.org/obo/HP_0000308 HP:0002960 biolink:PhenotypicFeature Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues. UMLS:C0004364|MSH:D001327|SNOMEDCT_US:85828009 hp.json Autoimmune disease|Autoimmune disorder|Autoimmunity|Autoimmune condition http://purl.obolibrary.org/obo/HP_0002960 HP:0002961 biolink:PhenotypicFeature Dysgammaglobulinemia Selective deficiency of one or more, but not all, classes of immunoglobulins. UMLS:C0013374|SNOMEDCT_US:123782009|MSH:D004406 hp.json http://purl.obolibrary.org/obo/HP_0002961 CHEBI:134179 biolink:ChemicalSubstance volatile organic compound Any organic compound having an initial boiling point less than or equal to 250 degreeC (482 degreeF) measured at a standard atmospheric pressure of 101.3 kPa. Wikipedia:Volatile_organic_compound hp.json volatile organic compounds|VOC|VOCs http://purl.obolibrary.org/obo/CHEBI_134179 3_STAR HP:0000301 biolink:PhenotypicFeature Abnormality of facial musculature An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). UMLS:C4025865 hp.json Abnormality of facial muscles|Facial muscle issue http://purl.obolibrary.org/obo/HP_0000301 HP:0000300 biolink:PhenotypicFeature Oval face A face with a rounded and slightly elongated outline. UMLS:C1849025 hp.json Oval facies|Oval facial shape|Oval face http://purl.obolibrary.org/obo/HP_0000300 HP:0002965 biolink:PhenotypicFeature Cutaneous anergy Inability to react to a delayed hypersensitivity skin test. UMLS:C1855781 hp.json Lack of delayed skin hypersensitivity reaction|Absence of delayed hypersensitivity skin test http://purl.obolibrary.org/obo/HP_0002965 HP:0000303 biolink:PhenotypicFeature Mandibular prognathia Abnormal prominence of the chin related to increased length of the mandible. MSH:D008313|UMLS:C4280645|UMLS:C0302501|UMLS:C4280644|SNOMEDCT_US:22810007|UMLS:C2227134|SNOMEDCT_US:109504005|UMLS:C0399526 hp.json Enlarged mandible|Mandibular excess|Prominent chin|Hypertrophy of lower jaw|Prognathia|Macromandible|Big lower jaw|Increased size of mandible|Prominent jaw|Hyperplasia of lower jaw|Enlargement of mandible|Lower jaw excess|Lower jaw hyperplasia|Prognathism|Large lower jaw|Increased projection of lower jaw|Relative mandibular prognathism|Large mandible|Increased size of lower jaw|Prominent mandible|Hypertrophy of mandible|Mandibular macrognathia|Prominent lower jaw|Mandible prognathism|Mandibular hyperplasia|Mandibular prognathism|Increased projection of mandible|Big mandible http://purl.obolibrary.org/obo/HP_0000303 hposlim_core HP:0002963 biolink:PhenotypicFeature Abnormal delayed hypersensitivity skin test Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. UMLS:C1833172 hp.json http://purl.obolibrary.org/obo/HP_0002963 GO:0042762 biolink:BiologicalProcess regulation of sulfur metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur. hp.json regulation of sulfur metabolism|regulation of sulphur metabolism|regulation of sulphur metabolic process http://purl.obolibrary.org/obo/GO_0042762 CHEBI:17549 biolink:ChemicalSubstance 5-aminolevulinic acid The simplest delta-amino acid in which the hydrogens at the gamma position are replaced by an oxo group. It is metabolised to protoporphyrin IX, a photoactive compound which accumulates in the skin. Used (in the form of the hydrochloride salt)in combination with blue light illumination for the treatment of minimally to moderately thick actinic keratosis of the face or scalp. Drug_Central:166|PMID:19378778|PMID:22378066|PMID:7890117|Wikipedia:Aminolevulinic_acid|PMID:23299429|Beilstein:1759139|PMID:23339045|Reaxys:1759139|LINCS:LSM-5677|PMID:23360321|PMID:23242333|KNApSAcK:C00007378|KEGG:C00430|PMID:23307195|PMID:23291627|DrugBank:DB00855|CAS:106-60-5|CAS:106-60-5|HMDB:HMDB0001149|KEGG:D07567|PMID:15996585|PMID:11303952|PMID:22700502|PMID:15756058|PMID:18982627 hp.json 5-amino-4-oxopentanoic acid|dALA|5-Amino-4-oxovaleric acid|delta-ALA|5-ALA|aminolevulinic acid|delta-aminolevulinic acid|5-Amino-4-oxopentanoate|5-Aminolevulinate http://purl.obolibrary.org/obo/CHEBI_17549 3_STAR CL:0000881 biolink:Cell perivascular macrophage A central nervous system macrophage found in small blood vessels in the brain. Markers include CD14+CD16+CD163+. hp.json http://purl.obolibrary.org/obo/CL_0000881 CHEBI:17544 biolink:ChemicalSubstance hydrogencarbonate The carbon oxoanion resulting from the removal of a proton from carbonic acid. Beilstein:3903504|PMID:28732801|PMID:4208463|MetaCyc:HCO3|PMID:29466234|PMID:18439416|KEGG:C00288|CAS:71-52-3|PMID:29150416|PDBeChem:BCT|Wikipedia:Bicarbonate|PMID:17505962|PMID:17215880|PMID:29460248|Gmelin:49249|HMDB:HMDB0000595 hp.json hydroxidodioxidocarbonate(1-)|Hydrogencarbonate|hydrogentrioxocarbonate(1-)|hydrogentrioxocarbonate(IV)|hydrogencarbonate(1-)|[CO2(OH)](-)|BICARBONATE ION|hydrogencarbonate|Acid carbonate|hydrogen carbonate|HCO3(-)|hydrogencarbonate|HCO3-|Bicarbonate|hydrogen(trioxidocarbonate)(1-) http://purl.obolibrary.org/obo/CHEBI_17544 3_STAR NCBITaxon:39107 biolink:OrganismalEntity Murinae GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_39107 CL:0000897 biolink:Cell CD4-positive, alpha-beta memory T cell A CD4-positive, alpha-beta T cell that has differentiated into a memory T cell. hp.json CD4-positive, alpha-beta memory T-lymphocyte|CD4-positive, alpha-beta memory T-cell|CD4-positive, alpha-beta memory T lymphocyte|T4.Mem.Sp http://purl.obolibrary.org/obo/CL_0000897 CL:0000898 biolink:Cell naive T cell Mature T cell not yet exposed to antigen with the phenotype CCR7-positive, CD45RA-positive, and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. hp.json naive T-cell|naive T lymphocyte|naive T-lymphocyte http://purl.obolibrary.org/obo/CL_0000898 CL:0000891 biolink:Cell foam cell A type of cell containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions. FMA:83586|BTO:0003872 hp.json http://purl.obolibrary.org/obo/CL_0000891 CL:0000893 biolink:Cell thymocyte An immature T cell located in the thymus. FMA:72202|BTO:0001372|XAO:0003159|CALOHA:TS-1042 hp.json thymic lymphocyte|immature T cell|immature T-cell|immature T lymphocyte|immature T-lymphocyte http://purl.obolibrary.org/obo/CL_0000893 CL:0000894 biolink:Cell DN1 thymic pro-T cell A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. hp.json DN1 thymic pro-T-lymphocyte|DN1 thymic progenitor T cell|preT.DN1.Th|DN1 thymocyte|double negative 1|DN1 thymic pro-T-cell|DN1 thymic pro-T lymphocyte http://purl.obolibrary.org/obo/CL_0000894 CL:0000895 biolink:Cell naive thymus-derived CD4-positive, alpha-beta T cell An antigen inexperienced CD4-positive, alpha-beta T cell with the phenotype CCR7-positive, CD127-positive and CD62L-positive. This cell type develops in the thymus. This cell type is also described as being CD25-negative, CD62L-high, and CD44-low. hp.json naive CD4+ T cell|T.4Nve.Sp|naive thymus-derived CD4-positive, alpha-beta T-cell|naive thymus-derived CD4-positive, alpha-beta T lymphocyte|naive thymus-derived CD4-positive, alpha-beta T-lymphocyte|Th0 http://purl.obolibrary.org/obo/CL_0000895 CL:0000896 biolink:Cell activated CD4-positive, alpha-beta T cell A recently activated CD4-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive. hp.json activated CD4-positive, alpha-beta T-cell|activated CD4-positive, alpha-beta T lymphocyte|activated CD4-positive, alpha-beta T-lymphocyte http://purl.obolibrary.org/obo/CL_0000896 UBERON:0007590 biolink:AnatomicalEntity cuboidal oviduct epithelium A cuboidal epithelium that is part of a oviduct. MA:0001720 hp.json http://purl.obolibrary.org/obo/UBERON_0007590 human_reference_atlas CL:0000864 biolink:Cell tissue-resident macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. FMA:84644|FMA:84642 hp.json resting histiocyte|fixed macrophage http://purl.obolibrary.org/obo/CL_0000864 UBERON:0007592 biolink:AnatomicalEntity ciliated columnar epithelium Simple columnar epithelium in which the luminal side of the cells bears cilia. Examples: epithelium of trachea, epithelium of uterine tube.[FMA]. FMA:64798 hp.json http://purl.obolibrary.org/obo/UBERON_0007592 CHEBI:17568 biolink:ChemicalSubstance uracil A common and naturally occurring pyrimidine nucleobase in which the pyrimidine ring is substituted with two oxo groups at positions 2 and 4. Found in RNA, it base pairs with adenine and replaces thymine during DNA transcription. MetaCyc:URACIL|PMID:22447672|KEGG:C00106|PMID:22567906|PMID:18815805|PMID:22685418|CAS:66-22-8|PMID:22483865|CAS:66-22-8|PMID:18533995|KEGG:D00027|PMID:22299724|PMID:12855717|PMID:11279060|PMID:22237209|Beilstein:606623|PDBeChem:URA|DrugBank:DB03419|PMID:15274295|Reaxys:606623|PMID:17439666|PMID:22020693|PMID:3654008|PMID:22356544|PMID:22171528|PMID:22074393|HMDB:HMDB0000300|Gmelin:2896|PMID:16834123|KNApSAcK:C00001513|PMID:22120518|PMID:19175333|CAS:66-22-8|Wikipedia:Uracil hp.json Uracil|Ura|2,4-Pyrimidinedione|2,4-Dioxopyrimidine|URACIL|Urazil|pyrimidine-2,4(1H,3H)-dione|uracil|U|2,4(1H,3H)-pyrimidinedione http://purl.obolibrary.org/obo/CHEBI_17568 3_STAR CL:0000878 biolink:Cell central nervous system macrophage A tissue-resident macrophage found in the central nervous system. hp.json CNS macrophage http://purl.obolibrary.org/obo/CL_0000878 CHEBI:17553 biolink:ChemicalSubstance O-phosphoethanolamine The ethanolamine mono-ester of phosphoric acid, and a metabolite of phospholipid metabolism. This phosphomonoester shows strong structural similarity to the inhibitory neurotransmitter GABA, and is decreased in post-mortem Alzheimer's disease brain. Gmelin:663022|KEGG:C00346|MetaCyc:PHOSPHORYL-ETHANOLAMINE|DrugBank:DB01738|PDBeChem:OPE|Beilstein:1758916|Reaxys:1758916|CAS:1071-23-4|CAS:1071-23-4|PMID:7791524|CAS:1071-23-4|PMID:1112054 hp.json pEtN|PETN|monoaminoethyl phosphate|mono(2-aminoethyl) phosphate|PEA|2-aminoethyl dihydrogen phosphate|colaminphosphoric acid|ethanolamine acid phosphate|O-Phosphoethanolamine|2-amino-ethanol dihydrogen phosphate|phosphoric acid 2-aminoethyl phenyl ester|O-phosphocolamine|ethanolamine O-phosphate|colamine phosphate|2-amino-ethanol phosphate|Ethanolamine phosphate|PE|EAP|phosphoryl-ethanolamine|OPE|Phosphoethanolamine|ethanolamine O-phosphate|colamine phosphoric acid|O-Phosphorylethanolamine http://purl.obolibrary.org/obo/CHEBI_17553 3_STAR UBERON:0007589 biolink:AnatomicalEntity ciliated columnar oviduct epithelium A ciliated columnar epithelium that is part of a oviduct. FMA:62016|MA:0001719 hp.json epithelium of uterine tube|uterine tube epithelium http://purl.obolibrary.org/obo/UBERON_0007589 human_reference_atlas CL:0000842 biolink:Cell mononuclear cell A leukocyte with a single non-segmented nucleus in the mature form. BTO:0000878|FMA:86713|CALOHA:TS-0768 hp.json peripheral blood mononuclear cell|mononuclear leukocyte http://purl.obolibrary.org/obo/CL_0000842 CL:0000845 biolink:Cell marginal zone B cell of spleen A mature B cell that is located in the marginal zone of the spleen with the phenotype CD23-negative and CD21-positive and expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL. This cell type is also described as being CD19-positive, B220-positive, IgM-high, AA4-negative, CD35-high. hp.json MZ B-cell|marginal zone of spleen B cell|MZ B lymphocyte|B cell of marginal zone of spleen|marginal zone B cell|MZ B-lymphocyte|marginal zone B-cell|marginal zone B lymphocyte|marginal zone B-lymphocyte|MZ B cell http://purl.obolibrary.org/obo/CL_0000845 UBERON:0020550 biolink:AnatomicalEntity auricular blood vessel A blood vessel that supplies or drains an ear. EMAPA:37386|MA:0001226 hp.json http://purl.obolibrary.org/obo/UBERON_0020550 HP:0002908 biolink:PhenotypicFeature Conjugated hyperbilirubinemia UMLS:C0268307|SNOMEDCT_US:9326001 hp.json Direct hyperbilirubinemia http://purl.obolibrary.org/obo/HP_0002908 HP:0002909 biolink:PhenotypicFeature Generalized aminoaciduria An increased concentration of all types of amino acid in the urine. UMLS:C1847868 hp.json Generalized nonspecific aminoaciduria|Generalised aminoaciduria|Generalised nonspecific aminoaciduria http://purl.obolibrary.org/obo/HP_0002909 HP:0002902 biolink:PhenotypicFeature Hyponatremia An abnormally decreased sodium concentration in the blood. MSH:D007010|SNOMEDCT_US:89627008|UMLS:C0020625 hp.json Low blood sodium levels http://purl.obolibrary.org/obo/HP_0002902 HP:0002900 biolink:PhenotypicFeature Hypokalemia An abnormally decreased potassium concentration in the blood. SNOMEDCT_US:43339004|UMLS:C0020621|MSH:D007008|SNOMEDCT_US:166690008 hp.json Low blood potassium levels http://purl.obolibrary.org/obo/HP_0002900 HP:0002901 biolink:PhenotypicFeature Hypocalcemia An abnormally decreased calcium concentration in the blood. UMLS:C0020598|MSH:D006996|SNOMEDCT_US:5291005 hp.json Low blood calcium levels|Hypocalcaemia http://purl.obolibrary.org/obo/HP_0002901 HP:0002907 biolink:PhenotypicFeature Microscopic hematuria Microscopic hematuria detected by dipstick or microscopic examination of the urine. UMLS:C0239937|SNOMEDCT_US:197940006 hp.json Occult hematuria|Small amount of blood in urine|Microhematuria http://purl.obolibrary.org/obo/HP_0002907 HP:0002904 biolink:PhenotypicFeature Hyperbilirubinemia An increased amount of bilirubin in the blood. SNOMEDCT_US:26165005|UMLS:C0311468 hp.json High blood bilirubin levels http://purl.obolibrary.org/obo/HP_0002904 HP:0002905 biolink:PhenotypicFeature Hyperphosphatemia An abnormally increased phosphate concentration in the blood. UMLS:C0553706|UMLS:C0085681|MSH:D054559|SNOMEDCT_US:20165001 hp.json High blood phosphate levels http://purl.obolibrary.org/obo/HP_0002905 PR:P02686 biolink:Protein myelin basic protein (human) A myelin basic protein that is encoded in the genome of human. Reactome:R-HSA-9614770|UniProtKB:P02686 hp.json MBP|hMBP|myelin membrane encephalitogenic protein (human)|myelin A1 protein (human) http://purl.obolibrary.org/obo/PR_P02686 CL:0000825 biolink:Cell pro-NK cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. hp.json NKP|preNK cell|natural killer cell progenitor|pro-natural killer cell|null cell http://purl.obolibrary.org/obo/CL_0000825 CL:0000826 biolink:Cell pro-B cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. BTO:0003104 hp.json pro-B-lymphocyte|pre-pro B cell|progenitor B-lymphocyte|pre-B cell (Philadelphia nomenclature)|progenitor B cell|pro-B-cell|pro-B lymphocyte|progenitor B-cell|progenitor B lymphocyte http://purl.obolibrary.org/obo/CL_0000826 CL:0000827 biolink:Cell pro-T cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. hp.json DN1 thymocyte|pro-T lymphocyte|DN1 cell|TN1 cell|progenitor T cell http://purl.obolibrary.org/obo/CL_0000827 CHEBI:17522 biolink:ChemicalSubstance alditol A carbohydrate that is an acyclic polyol having the general formula HOCH2[CH(OH)]nCH2OH (formally derivable from an aldose by reduction of the carbonyl group). Wikipedia:Glycerin|KEGG:C00717 hp.json alditols|Glycitol|Alditol|Sugar alcohol|alditol http://purl.obolibrary.org/obo/CHEBI_17522 3_STAR CL:0000839 biolink:Cell myeloid lineage restricted progenitor cell A progenitor cell restricted to the myeloid lineage. BTO:0004730|FMA:70339|CALOHA:TS-2099 hp.json myeloid progenitor cell http://purl.obolibrary.org/obo/CL_0000839 CL:0000831 biolink:Cell mast cell progenitor A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. hp.json colony forming unit mast cell|CFU-MC|CFU-Mast|MCP http://purl.obolibrary.org/obo/CL_0000831 CL:0000834 biolink:Cell neutrophil progenitor cell A progenitor cell of the neutrophil lineage. hp.json neutrophil stem cell http://purl.obolibrary.org/obo/CL_0000834 CL:0000835 biolink:Cell myeloblast The most primitive precursor in the granulocytic series, having fine, evenly distributed chromatin, several nucleoli, a high nuclear-to-cytoplasmic ration (5:1-7:1), and a nongranular basophilic cytoplasm. They reside in the bone marrow. BTO:0000187|FMA:83524 hp.json http://purl.obolibrary.org/obo/CL_0000835 CL:0000837 biolink:Cell hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. CALOHA:TS-0448|BTO:0000725 hp.json hemopoietic progenitor cell|MPP http://purl.obolibrary.org/obo/CL_0000837 CL:0000838 biolink:Cell lymphoid lineage restricted progenitor cell A progenitor cell restricted to the lymphoid lineage. BTO:0004731|FMA:70338|CALOHA:TS-2025 hp.json lymphoid progenitor cell http://purl.obolibrary.org/obo/CL_0000838 GO:0005737 biolink:CellularComponent cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. Wikipedia:Cytoplasm hp.json http://purl.obolibrary.org/obo/GO_0005737 goslim_chembl|goslim_metagenomics|goslim_yeast|goslim_candida|prokaryote_subset|goslim_pir|goslim_plant GO:0005730 biolink:CellularComponent nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. NIF_Subcellular:sao1820400233|Wikipedia:Nucleolus hp.json http://purl.obolibrary.org/obo/GO_0005730 goslim_generic|goslim_candida|goslim_yeast|goslim_plant|goslim_pir|goslim_drosophila|goslim_aspergillus|goslim_chembl CHEBI:136849 biolink:ChemicalSubstance 3-oxo-Delta(4)-steroid group An organic group derived from any 3-oxo-Delta(4)-steroid. hp.json a 3-oxo-Delta4-steroid group http://purl.obolibrary.org/obo/CHEBI_136849 3_STAR UBERON:0007652 biolink:AnatomicalEntity esophageal sphincter A sphincter that is part of an esophagus. hp.json http://purl.obolibrary.org/obo/UBERON_0007652 UBERON:0007651 biolink:AnatomicalEntity anatomical junction An anatomical structure that connects two structures. FMA:5898|SCTID:91833003 hp.json junction|anatomical junction http://purl.obolibrary.org/obo/UBERON_0007651 upper_level OBO:hp#display_label biolink:NamedThing display label hp.json http://purl.obolibrary.org/obo/hp#display_label GO:0005739 biolink:CellularComponent mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. Wikipedia:Mitochondrion|NIF_Subcellular:sao1860313010 hp.json mitochondria http://purl.obolibrary.org/obo/GO_0005739 goslim_flybase_ribbon|goslim_drosophila|goslim_chembl|goslim_mouse|goslim_generic|goslim_agr|goslim_candida|goslim_yeast|goslim_pir|goslim_plant HP:0012297 biolink:PhenotypicFeature Slender proximal phalanx of finger Reduced diameter of the proximal phalanx of finger. UMLS:C4022961 hp.json Slender innermost bone of finger http://purl.obolibrary.org/obo/HP_0012297 HP:0012298 biolink:PhenotypicFeature Long middle phalanx of finger Increased length of the middle phalanx of finger. UMLS:C4022960 hp.json Long middle bone of finger http://purl.obolibrary.org/obo/HP_0012298 HP:0012299 biolink:PhenotypicFeature Long distal phalanx of finger Increased length of the distal phalanx of finger. UMLS:C4021865 hp.json Long outermost bone of finger http://purl.obolibrary.org/obo/HP_0012299 GO:0005746 biolink:CellularComponent mitochondrial respirasome The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. hp.json mitochondrial electron transport chain|mitochondrial respiratory supercomplex|mitochondrial respiratory chain supercomplex|mitochondrial respiratory chain http://purl.obolibrary.org/obo/GO_0005746 GO:0005743 biolink:CellularComponent mitochondrial inner membrane The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. NIF_Subcellular:sao1371347282|Wikipedia:Inner_mitochondrial_membrane hp.json inner mitochondrion membrane|mitochondrion inner membrane|inner mitochondrial membrane http://purl.obolibrary.org/obo/GO_0005743 NCBITaxon:7898 biolink:OrganismalEntity Actinopterygii GC_ID:1 hp.json ray-finned fishes|bony fishes|fish|Actinopterygi|Osteichthyes|fishes http://purl.obolibrary.org/obo/NCBITaxon_7898 HP:0012290 biolink:PhenotypicFeature obsolete Mouth neoplasm hp.json http://purl.obolibrary.org/obo/HP_0012290 GO:0005740 biolink:CellularComponent mitochondrial envelope The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space. hp.json http://purl.obolibrary.org/obo/GO_0005740 goslim_candida|goslim_yeast HP:0012291 biolink:PhenotypicFeature obsolete Tracheal neoplasm hp.json http://purl.obolibrary.org/obo/HP_0012291 CHEBI:136859 biolink:ChemicalSubstance pro-agent A compound that, on administration, undergoes conversion by biochemical (enzymatic), chemical (possibly following an enzymatic step), or physical (e.g. photochemical) activation processes before becoming the active agent for which it is a pro-agent. PMID:26449612 hp.json pro-agents|proagents|proagent http://purl.obolibrary.org/obo/CHEBI_136859 3_STAR HP:0012292 biolink:PhenotypicFeature Fusion of gums A congenital defect with an abnormal joining of the gums of the upper and lower jaw. UMLS:C4022966 hp.json Gingival synechia|Synechia of the gums|Fusion of gums|Partial fusion of the gums|Fusion of the gingiva|Upper and lower gums fused together http://purl.obolibrary.org/obo/HP_0012292 HP:0012293 biolink:PhenotypicFeature Abnormal genital pigmentation An abnormal pigmentation pattern of the external genitalia. UMLS:C4022965 hp.json http://purl.obolibrary.org/obo/HP_0012293 HP:0012294 biolink:PhenotypicFeature Abnormal occipital bone morphology Abnormality of the occipital bone of the skull. UMLS:C4022964 hp.json Abnormality of the occipital bone http://purl.obolibrary.org/obo/HP_0012294 HP:0012295 biolink:PhenotypicFeature Slender middle phalanx of finger Reduced diameter of the middle phalanx of finger. UMLS:C4022963 hp.json Slender middle bone of finger http://purl.obolibrary.org/obo/HP_0012295 HP:0012296 biolink:PhenotypicFeature Slender distal phalanx of finger Reduced diameter of the distal phalanx of finger. UMLS:C4022962 hp.json Slender outermost bone of finger http://purl.obolibrary.org/obo/HP_0012296 UBERON:0007641 biolink:AnatomicalEntity trigeminal nuclear complex The sensory trigeminal nerve nuclei are the largest of the cranial nerve nuclei, and extend through the whole of the midbrain, pons and medulla. There is also a distinct trigeminal motor nucleus that is medial to the chief sensory nucleus[WP]. FMA:71248|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2021|CALOHA:TS-2077|BM:V|BIRNLEX:4096|DHBA:266441713|Wikipedia:Trigeminal_nerve_nuclei|HBA:9203|UMLS:C0040999 hp.json nuclei trigemini|trigeminal nuclei|nuclei trigemini http://purl.obolibrary.org/obo/UBERON_0007641 CHEBI:78433 biolink:ChemicalSubstance refrigerant A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. Wikipedia:Refrigerant hp.json refrigerants http://purl.obolibrary.org/obo/CHEBI_78433 3_STAR UBERON:0007647 biolink:AnatomicalEntity ectomeninx The outermost layer of the mesenchymal capsule that surrounds the developing brain, of mixed paraxial mesoderm and neural crest origin. The ectomeninx forms the dura mater (both inner layer and outer chondrogenic layer). EHDAA2:0004317 hp.json future dura mater http://purl.obolibrary.org/obo/UBERON_0007647 UBERON:0007646 biolink:AnatomicalEntity endomeninx The innermost layer of the mesenchymal capsule that surrounds the developing brain, primarily of neural crest origin. The endomeninx forms the leptomeninx. hp.json future leptomeninges|future leptomeninx http://purl.obolibrary.org/obo/UBERON_0007646 UBERON:0007645 biolink:AnatomicalEntity future meninx A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. EHDAA2:0004453 hp.json primordial meninx|primary meninx|meninx primitiva|primitive meninx http://purl.obolibrary.org/obo/UBERON_0007645 pheno_slim UBERON:0007644 biolink:AnatomicalEntity thoracic lymph node A lymph node that is part of a thorax. Includes lymph nodes of the lungs and mediastinal lymph nodes. UMLS:C0229745|FMA:12772|NCIT:C33769 hp.json deep thoracic lymph node|lymph node of thorax http://purl.obolibrary.org/obo/UBERON_0007644 HP:0012286 biolink:PhenotypicFeature Abnormal hypothalamus morphology Any structural anomaly of the hypothalamus. UMLS:C4021095 hp.json Abnormality of hypothalamus morphology|Abnormal shape of hypothalamus|Abnormality of the hypothalamus http://purl.obolibrary.org/obo/HP_0012286 HP:0012287 biolink:PhenotypicFeature Hypothalamic luteinizing hormone-releasing hormone deficiency Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus. UMLS:C4022967 hp.json http://purl.obolibrary.org/obo/HP_0012287 HP:0012288 biolink:PhenotypicFeature Neoplasm of head and neck A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. SNOMEDCT_US:255056009|SNOMEDCT_US:255055008|UMLS:C0018671|MSH:D006258|UMLS:C0278996 hp.json Head and neck cancer|Head and neck tumor|Head and neck tumour http://purl.obolibrary.org/obo/HP_0012288 HP:0012289 biolink:PhenotypicFeature Facial neoplasm A tumor (abnormal growth of tissue) of the face. NCIT:C3262|UMLS:C0015461|SNOMEDCT_US:126632002|MSH:D005153 hp.json Face tumor|Face tumour http://purl.obolibrary.org/obo/HP_0012289 HP:0012280 biolink:PhenotypicFeature Hepatic amyloidosis A form of amyloidosis that affects the liver. SNOMEDCT_US:9551004|UMLS:C0267839 hp.json http://purl.obolibrary.org/obo/HP_0012280 HP:0012281 biolink:PhenotypicFeature Chylous ascites Extravasation of chyle into the peritoneal cavity. MSH:D002915|UMLS:C0008732|SNOMEDCT_US:52985009 hp.json Chyloperitoneum http://purl.obolibrary.org/obo/HP_0012281 HP:0012282 biolink:PhenotypicFeature Morbilliform rash An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. SNOMEDCT_US:50495000|SNOMEDCT_US:247470007|UMLS:C0234918 hp.json http://purl.obolibrary.org/obo/HP_0012282 HP:0012283 biolink:PhenotypicFeature Small distal femoral epiphysis Reduced size of the Distal epiphysis of femur. UMLS:C4022970 hp.json Small end part of outermost thighbone http://purl.obolibrary.org/obo/HP_0012283 HP:0012284 biolink:PhenotypicFeature Small proximal tibial epiphyses Reduced size of the proximal epiphysis of the tibia. UMLS:C4022969 hp.json Small end part of innermost shinbone|Small end part of innermost shankbone http://purl.obolibrary.org/obo/HP_0012284 HP:0012285 biolink:PhenotypicFeature Abnormal hypothalamus physiology An abnormal functionality of the hypothalamus. UMLS:C4022968 hp.json http://purl.obolibrary.org/obo/HP_0012285 HP:0000297 biolink:PhenotypicFeature Facial hypotonia Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). UMLS:C1845251|UMLS:C4280646 hp.json Hypotonic facies|Low facial muscle tone|Atony of facial musculature|Decreased facial muscle tone|Reduced facial muscle tone http://purl.obolibrary.org/obo/HP_0000297 GO:0042703 biolink:BiologicalProcess menstruation The cyclic, physiologic discharge through the vagina of blood and endometrial tissues from the nonpregnant uterus. Wikipedia:Menstruation hp.json http://purl.obolibrary.org/obo/GO_0042703 gocheck_do_not_annotate GO:0042702 biolink:BiologicalProcess uterine wall growth The regrowth of the endometrium and blood vessels in the uterus following menstruation, resulting from a rise in progesterone levels. hp.json http://purl.obolibrary.org/obo/GO_0042702 HP:0000298 biolink:PhenotypicFeature Mask-like facies A lack of facial expression often with staring eyes and a slightly open mouth. UMLS:C0424448|SNOMEDCT_US:103606006 hp.json Expressionless face|Lack of facial expression|Masklike facies|Amimia|Mask-like facial appearance http://purl.obolibrary.org/obo/HP_0000298 CHEBI:78444 biolink:ChemicalSubstance EC 3.1.1.1 (carboxylesterase) inhibitor Any EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that inhibits the action of carboxylesterase (EC 3.1.1.1 ). hp.json serine esterase inhibitor|triacetin esterase inhibitors|ali-esterase inhibitors|serine esterase inhibitors|ali-esterase inhibitor|triacetin esterase inhibitor|carboxylic-ester hydrolase inhibitors|esterase A inhibitors|esterase B inhibitors|vitamin A esterase inhibitor|Beta-esterase inhibitor|carboxylic esterase inhibitor|butyryl esterase inhibitors|monobutyrase inhibitor|esterase D inhibitors|procaine esterase inhibitor|nonspecific carboxylesterase inhibitor|carboxyl ester hydrolase inhibitors|carboxylesterase inhibitor|cocaine esterase inhibitor|Alpha-carboxylesterase inhibitor|methylbutyrate esterase inhibitor|butyrate esterase inhibitor|carboxylate esterase inhibitor|propionyl esterase inhibitor|methylbutyrase inhibitor|carboxylic acid esterase inhibitors|carboxylate esterase inhibitors|carboxylic acid esterase inhibitor|propionyl esterase inhibitors|methylbutyrase inhibitors|butyrate esterase inhibitors|methylbutyrate esterase inhibitors|Alpha-carboxylesterase inhibitors|cocaine esterase inhibitors|carboxylesterase inhibitors|carboxyl ester hydrolase inhibitor|esterase D inhibitor|nonspecific carboxylesterase inhibitors|procaine esterase inhibitors|butyryl esterase inhibitor|carboxylic esterase inhibitors|monobutyrase inhibitors|esterase B inhibitor|vitamin A esterase inhibitors|Beta-esterase inhibitors|EC 3.1.1.1 (carboxylesterase) inhibitors|carboxylic-ester hydrolase inhibitor|esterase A inhibitor http://purl.obolibrary.org/obo/CHEBI_78444 3_STAR HP:0000291 biolink:PhenotypicFeature Abnormality of facial adipose tissue UMLS:C4025866 hp.json Deformity of facial adipose tissue|Malformation of facial adipose tissue|Abnormality of facial fat http://purl.obolibrary.org/obo/HP_0000291 HP:0000290 biolink:PhenotypicFeature Abnormality of the forehead An anomaly of the forehead. UMLS:C4025867 hp.json Abnormality of the forehead|Abnormality of the frontal region of the face|Deformity of the forehead|Malformation of the forehead|Anomaly of the forehead http://purl.obolibrary.org/obo/HP_0000290 hposlim_core HP:0000293 biolink:PhenotypicFeature Full cheeks Increased prominence or roundness of soft tissues between zygomata and mandible. UMLS:C2748653|UMLS:C1866231|UMLS:C3806443|UMLS:C4280648|UMLS:C4280647 hp.json Full cheeks|Big cheeks|Hyperplasia of cheeks|Increased size of cheeks|Puffy cheeks|Apple cheeks|Large cheeks|Hypertrophy of cheeks|Chubby cheeks http://purl.obolibrary.org/obo/HP_0000293 hposlim_core UBERON:0007635 biolink:AnatomicalEntity nucleus of medulla oblongata A neural nucleus that is part of a medulla oblongata. FMA:258772|SCTID:304943004 hp.json http://purl.obolibrary.org/obo/UBERON_0007635 HP:0000292 biolink:PhenotypicFeature Loss of facial adipose tissue Loss of normal subcutaneous fat tissue in the face. UMLS:C1837767 hp.json Decreased amount of facial adipose tissue|Loss of facial subcutaneous adipose tissue|Decreased volume of facial adipose tissue|Loss of subcutaneous adipose tissue from face|Loss of facial fat|Decreased amount of facial fat http://purl.obolibrary.org/obo/HP_0000292 HP:0000295 biolink:PhenotypicFeature Doll-like facies A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. UMLS:C1856361 hp.json Doll-like facial appearance http://purl.obolibrary.org/obo/HP_0000295 HP:0000294 biolink:PhenotypicFeature Low anterior hairline Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. UMLS:C1842366 hp.json Low frontal hairline|Low-set frontal hairline http://purl.obolibrary.org/obo/HP_0000294 hposlim_core HP:0012275 biolink:PhenotypicFeature Autosomal dominant inheritance with maternal imprinting A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. UMLS:C4022975 hp.json http://purl.obolibrary.org/obo/HP_0012275 HP:0012276 biolink:PhenotypicFeature Digital flexor tenosynovitis Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit. UMLS:C4022974 hp.json Trigger finger http://purl.obolibrary.org/obo/HP_0012276 HP:0012277 biolink:PhenotypicFeature Hypoglycinemia An abnormally reduced concentration of glycine in the blood. UMLS:C4022973 hp.json Low blood glycine levels http://purl.obolibrary.org/obo/HP_0012277 HP:0012278 biolink:PhenotypicFeature Abnormal circulating serine concentration Any deviation from the normal concentration of serine in the blood circulation. UMLS:C4022972 hp.json http://purl.obolibrary.org/obo/HP_0012278 HP:0012279 biolink:PhenotypicFeature Hyposerinemia Reduced concentration of serine in the blood. UMLS:C4022971 hp.json Low blood serine levels http://purl.obolibrary.org/obo/HP_0012279 UBERON:0007619 biolink:AnatomicalEntity limiting membrane of retina MA:0001318 hp.json retina lamina http://purl.obolibrary.org/obo/UBERON_0007619 grouping_class UBERON:0007618 biolink:AnatomicalEntity synovial cavity of hip joint A synovial cavity of joint that is part of a hip joint. FMA:9701|EMAPA:19021 hp.json http://purl.obolibrary.org/obo/UBERON_0007618 NCBITaxon:40151 biolink:OrganismalEntity Monodon monoceros hp.json http://purl.obolibrary.org/obo/NCBITaxon_40151 HP:0012270 biolink:PhenotypicFeature Decreased muscle glycogen content A decreased amount of glycogen in muscle tissue. UMLS:C4022979 hp.json http://purl.obolibrary.org/obo/HP_0012270 HP:0012271 biolink:PhenotypicFeature Episodic upper airway obstruction Intermittent episodes of increased resistance to the passage of air in the upper airway. UMLS:C4022978 hp.json http://purl.obolibrary.org/obo/HP_0012271 HP:0012272 biolink:PhenotypicFeature J wave The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. UMLS:C4018858 hp.json EKG J waves|Osborne waves http://purl.obolibrary.org/obo/HP_0012272 HP:0012273 biolink:PhenotypicFeature Increased carotid artery intimal medial thickness An increase in the combined thickness of the intima and media of the carotid artery. UMLS:C4022977 hp.json http://purl.obolibrary.org/obo/HP_0012273 HP:0012274 biolink:PhenotypicFeature Autosomal dominant inheritance with paternal imprinting A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing. UMLS:C4022976 hp.json http://purl.obolibrary.org/obo/HP_0012274 GO:0042713 biolink:BiologicalProcess sperm ejaculation The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract. hp.json http://purl.obolibrary.org/obo/GO_0042713 NCBITaxon:40150 biolink:OrganismalEntity Monodon hp.json http://purl.obolibrary.org/obo/NCBITaxon_40150 UBERON:0007625 biolink:AnatomicalEntity pigment epithelium of eye Epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. MESH:D010857|GAID:907 hp.json eye pigment epithelium http://purl.obolibrary.org/obo/UBERON_0007625 pheno_slim UBERON:0005032 biolink:AnatomicalEntity mucosa of lower lip A mucosa that is part of a lower lip [Automatically generated definition]. FMA:59833|SCTID:362089001|NCIT:C12225|UMLS:C0226939 hp.json lower lip mucous membrane|mucosa of organ of lower lip|lower lip mucosa|lower lip organ mucosa|lower lip mucosa of organ|mucous membrane of lower lip|organ mucosa of lower lip|lower labial mucosa http://purl.obolibrary.org/obo/UBERON_0005032 UBERON:0005033 biolink:AnatomicalEntity mucosa of gallbladder A mucosa that is part of a gallbladder [Automatically generated definition]. FMA:14662 hp.json gall bladder mucosa|gall bladder mucosa of organ|gall bladder organ mucosa|mucous membrane of gallbladder|organ mucosa of gallbladder|gallbladder mucosa of organ|tunica mucosa (vesica biliaris)|gall bladder mucous membrane|tunica mucosa vesicae biliaris|mucosa of organ of gall bladder|gallbladder mucous membrane|mucosa of organ of gallbladder|mucosa of gall bladder|gallbladder mucosa|organ mucosa of gall bladder|mucous membrane of gall bladder|gallbladder organ mucosa http://purl.obolibrary.org/obo/UBERON_0005033 UBERON:0005030 biolink:AnatomicalEntity mucosa of paranasal sinus A mucosa that adjacent_to a paranasal sinus. FMA:59772 hp.json paranasal sinus mucosa http://purl.obolibrary.org/obo/UBERON_0005030 UBERON:0007692 biolink:AnatomicalEntity nucleus of thalamus A nucleus of brain that is part of a thalamus. BTO:0002452|FMA:256693|MA:0002992|EMAPA:35859 hp.json thalamic nucleus|nuclear complex of thalamus http://purl.obolibrary.org/obo/UBERON_0007692 UBERON:0005031 biolink:AnatomicalEntity mucosa of upper lip A mucosa that is part of a upper lip [Automatically generated definition]. FMA:59832|UMLS:C0226933|NCIT:C12224 hp.json upper lip mucosa|upper lip organ mucosa|organ mucosa of upper lip|upper lip mucosa of organ|mucous membrane of upper lip|upper labial mucosa|upper lip mucous membrane|mucosa of organ of upper lip http://purl.obolibrary.org/obo/UBERON_0005031 UBERON:0007691 biolink:AnatomicalEntity gustatory pore The minute opening of a taste bud on the surface of the oral mucosa through which the gustatory hairs of the specialised neuroepithelial gustatory cells project. NCIT:C33738|FMA:63589|SCTID:368724008|UMLS:C0226971 hp.json taste pore|porus gustatorius|porus gustatorius http://purl.obolibrary.org/obo/UBERON_0007691 UBERON:0007690 biolink:AnatomicalEntity early pharyngeal endoderm . FMA:293087|ZFA:0001104|EHDAA:962|EHDAA2:0001457|TAO:0001104|EFO:0003626|EMAPA:32754 hp.json early pharyngeal arch endoderm|pharyngeal arch endoderm|pharyngeal endoderm|pharyngeal region endoderm http://purl.obolibrary.org/obo/UBERON_0007690 efo_slim HGNC:12726 biolink:Gene VWF (human) A protein coding gene VWF in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12726 UBERON:0005039 biolink:AnatomicalEntity mucosa of bronchiole A mucosa that is part of a bronchiole [Automatically generated definition]. FMA:62774|FMA:263230 hp.json bronchiole mucosa of organ|mucosa of lobular bronchiole|organ mucosa of lobular bronchiole|mucous membrane of lobular bronchiole|lobular bronchiole mucosa|lobular bronchiole organ mucosa|bronchiole mucous membrane|mucosa of organ of bronchiole|lobular bronchiole mucosa of organ|bronchiole mucosa|bronchiole organ mucosa|organ mucosa of bronchiole|lobular bronchiole mucous membrane|mucous membrane of bronchiole|mucosa of organ of lobular bronchiole http://purl.obolibrary.org/obo/UBERON_0005039 UBERON:0007699 biolink:AnatomicalEntity tract of spinal cord An axon tract that is part of a spinal cord. FMA:75683|UMLS:C1519456|NCIT:C12995 hp.json spinal cord tract http://purl.obolibrary.org/obo/UBERON_0007699 GO:0042730 biolink:BiologicalProcess fibrinolysis A process that solubilizes fibrin in the bloodstream of a multicellular organism, chiefly by the proteolytic action of plasmin. Wikipedia:Fibrinolysis hp.json http://purl.obolibrary.org/obo/GO_0042730 UBERON:0005024 biolink:AnatomicalEntity mucosa of soft palate A mucosa that is part of a soft palate [Automatically generated definition]. FMA:59784 hp.json soft palate mucosa|soft palate organ mucosa|soft palate mucosa of organ|mucous membrane of soft palate|organ mucosa of soft palate|soft palate mucous membrane|mucosa of organ of soft palate http://purl.obolibrary.org/obo/UBERON_0005024 UBERON:0005021 biolink:AnatomicalEntity mucosa of sphenoidal sinus A mucosa that is part of a sphenoidal sinus [Automatically generated definition]. FMA:59775 hp.json mucosa of sphenoid sinus|mucous membrane of sphenoid sinus|mucosa of organ of sphenoidal sinus|organ mucosa of sphenoid sinus|sphenoid sinus mucosa|sphenoid sinus organ mucosa|sphenoid sinus mucosa of organ|organ mucosa of sphenoidal sinus|mucous membrane of sphenoidal sinus|sphenoid sinus mucous membrane|sphenoidal sinus mucosa of organ|sphenoidal sinus mucosa|mucosa of organ of sphenoid sinus|sphenoidal sinus organ mucosa|sphenoidal sinus mucous membrane http://purl.obolibrary.org/obo/UBERON_0005021 UBERON:0007684 biolink:AnatomicalEntity uriniferous tubule Functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. FMA:17691 hp.json http://purl.obolibrary.org/obo/UBERON_0007684 UBERON:0005022 biolink:AnatomicalEntity mucosa of nasopharynx A mucosa that is part of a nasopharynx [Automatically generated definition]. FMA:54971 hp.json nasal part of pharynx organ mucosa|nasopharynx mucosa|rhinopharynx mucous membrane|nasopharynx organ mucosa|mucosa of organ of rhinopharynx|mucosa of rhinopharynx|mucous membrane of nasopharynx|nasopharynx mucosa of organ|organ mucosa of nasopharynx|organ mucosa of rhinopharynx|mucous membrane of rhinopharynx|nasal part of pharynx mucosa of organ|mucous membrane of nasal part of pharynx|organ mucosa of nasal part of pharynx|mucosa of nasal part of pharynx|mucosa of organ of nasopharynx|nasopharynx mucous membrane|rhinopharynx mucosa|rhinopharynx mucosa of organ|rhinopharynx organ mucosa|nasal part of pharynx mucous membrane|mucosa of organ of nasal part of pharynx|nasal part of pharynx mucosa http://purl.obolibrary.org/obo/UBERON_0005022 UBERON:0005020 biolink:AnatomicalEntity mucosa of tongue A mucosa that is part of a tongue [Automatically generated definition]. EFO:0002553|FMA:54807|SCTID:362092002 hp.json tongue mucous membrane|mucosa of organ of tongue|tunica mucosa linguae|organ mucosa of tongue|mucous membrane of tongue|tongue mucosa|tongue organ mucosa|tongue mucosa of organ|lingual mucosa http://purl.obolibrary.org/obo/UBERON_0005020 efo_slim CHEBI:17453 biolink:ChemicalSubstance methylmalonate(2-) A C4-dicarboxylate resulting from the removal of a proton from both carboxylic acid groups of methylmalonic acid. MetaCyc:CPD-546|Gmelin:142212|KEGG:C02170|Beilstein:3904597|Reaxys:3904597 hp.json methylmalonate|methylmalonate dianion|methylpropanedioate http://purl.obolibrary.org/obo/CHEBI_17453 3_STAR UBERON:0005027 biolink:AnatomicalEntity mucosa of frontal sinus A mucosa that is part of a frontal sinus [Automatically generated definition]. FMA:59774 hp.json frontal sinus mucosa|frontal sinus organ mucosa|organ mucosa of frontal sinus|mucous membrane of frontal sinus|frontal sinus mucosa of organ|frontal sinus mucous membrane|mucosa of organ of frontal sinus http://purl.obolibrary.org/obo/UBERON_0005027 UBERON:0005028 biolink:AnatomicalEntity mucosa of maxillary sinus A mucosa that is part of a maxillary sinus [Automatically generated definition]. FMA:59773 hp.json mucosa of organ of maxillary sinus|maxillary sinus mucous membrane|maxillary sinus mucosa|antrum of highmore mucosa of organ|maxillary sinus organ mucosa|antrum of highmore mucous membrane|mucosa of organ of antrum of highmore|antrum of highmore mucosa|organ mucosa of maxillary sinus|maxillary sinus mucosa of organ|mucous membrane of maxillary sinus|antrum of highmore organ mucosa|mucosa of antrum of highmore|organ mucosa of antrum of highmore|mucous membrane of antrum of highmore http://purl.obolibrary.org/obo/UBERON_0005028 UBERON:0007689 biolink:AnatomicalEntity thyroid diverticulum Endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. hp.json diverticulum thyroideum|saccus thyroideus http://purl.obolibrary.org/obo/UBERON_0007689 UBERON:0007688 biolink:AnatomicalEntity anlage Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. Wikipedia:Anlage_(biology)|FBbt:00005426|EFO:0001649|EHDAA2:0003170|AEO:0000170 hp.json organ field|developmental field|future organ|field http://purl.obolibrary.org/obo/UBERON_0007688 efo_slim UBERON:0005025 biolink:AnatomicalEntity mucosa of uvula A mucosa that is part of a uvula [Automatically generated definition]. FMA:60030 hp.json uvula mucosa http://purl.obolibrary.org/obo/UBERON_0005025 UBERON:0005026 biolink:AnatomicalEntity mucosa of middle ear A mucosa that is part of a middle ear [Automatically generated definition]. CALOHA:TS-0631|FMA:59663 hp.json mucosa of organ of middle ear|middle ear mucosa|middle ear organ mucosa|mucous membrane of middle ear|organ mucosa of middle ear|tunica mucosa cavitatis tympanicae|middle ear mucosa of organ|mucosa of tympanic cavity|middle ear mucous membrane http://purl.obolibrary.org/obo/UBERON_0005026 UBERON:0007687 biolink:AnatomicalEntity kidney field Region of the embryo into the area in which the kidney rudiment will develop. hp.json kidney anlage http://purl.obolibrary.org/obo/UBERON_0007687 UBERON:0005012 biolink:AnatomicalEntity mucosa of left uterine tube A mucosa that is part of a left uterine tube [Automatically generated definition]. FMA:18453 hp.json left uterine tube mucous membrane|mucosa of organ of left oviduct|mucosa of organ of left uterine tube|left fallopian tube mucosa of organ|mucous membrane of left fallopian tube|left uterine tube mucosa|organ mucosa of left fallopian tube|mucosa of left fallopian tube|left uterine tube organ mucosa|left oviduct mucosa|mucosa of left oviduct|left oviduct organ mucosa|mucous membrane of left oviduct|organ mucosa of left oviduct|left fallopian tube mucous membrane|mucosa of organ of left fallopian tube|left oviduct mucosa of organ|left fallopian tube mucosa|left uterine tube mucosa of organ|organ mucosa of left uterine tube|mucous membrane of left uterine tube|left fallopian tube organ mucosa|left oviduct mucous membrane http://purl.obolibrary.org/obo/UBERON_0005012 GO:0042747 biolink:BiologicalProcess circadian sleep/wake cycle, REM sleep A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity. hp.json http://purl.obolibrary.org/obo/GO_0042747 UBERON:0005013 biolink:AnatomicalEntity mucosa of male urethra A mucosa that is part of a male urethra [Automatically generated definition]. FMA:239937 hp.json male urethra mucosa|male urethra organ mucosa|male urethra mucous membrane|mucosa of organ of male urethra|mucous membrane of male urethra|organ mucosa of male urethra|male urethra mucosa of organ http://purl.obolibrary.org/obo/UBERON_0005013 UBERON:0005010 biolink:AnatomicalEntity mucosa of neck of urinary bladder A mucosa that is part of a neck of urinary bladder [Automatically generated definition]. FMA:17846 hp.json organ mucosa of neck of urinary bladder|mucous membrane of neck of urinary bladder|neck of urinary bladder mucosa of organ|vesical neck mucous membrane|bladder neck mucosa|urinary bladder neck mucous membrane|neck of bladder mucosa|bladder neck organ mucosa|mucosa of bladder neck|mucosa of organ of vesical neck|organ mucosa of bladder neck|neck of bladder organ mucosa|mucous membrane of bladder neck|mucosa of organ of urinary bladder neck|mucosa of organ of neck of urinary bladder|neck of urinary bladder mucous membrane|organ mucosa of neck of bladder|neck of bladder mucosa of organ|mucous membrane of neck of bladder|mucosa of vesical neck|mucosa of neck of bladder|bladder neck mucosa of organ|organ mucosa of vesical neck|mucous membrane of vesical neck|neck of urinary bladder mucosa|mucosa of urinary bladder neck|mucous membrane of urinary bladder neck|neck of urinary bladder organ mucosa|organ mucosa of urinary bladder neck|neck of bladder mucous membrane|mucosa of organ of neck of bladder|urinary bladder neck mucosa|vesical neck mucosa of organ|vesical neck mucosa|bladder neck mucous membrane|urinary bladder neck mucosa of organ|vesical neck organ mucosa|mucosa of organ of bladder neck http://purl.obolibrary.org/obo/UBERON_0005010 GO:0042749 biolink:BiologicalProcess regulation of circadian sleep/wake cycle Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle. hp.json http://purl.obolibrary.org/obo/GO_0042749 UBERON:0005011 biolink:AnatomicalEntity mucosa of right uterine tube A mucosa that is part of a right uterine tube [Automatically generated definition]. FMA:18452 hp.json mucosa of right fallopian tube|organ mucosa of right fallopian tube|mucous membrane of right fallopian tube|organ mucosa of right oviduct|mucous membrane of right oviduct|right oviduct mucosa of organ|right uterine tube mucous membrane|mucosa of right oviduct|right fallopian tube mucosa of organ|right fallopian tube mucosa|right fallopian tube organ mucosa|mucosa of organ of right uterine tube|right oviduct mucosa|right oviduct organ mucosa|right oviduct mucous membrane|mucosa of organ of right oviduct|right fallopian tube mucous membrane|organ mucosa of right uterine tube|mucous membrane of right uterine tube|right uterine tube mucosa|mucosa of organ of right fallopian tube|right uterine tube organ mucosa|right uterine tube mucosa of organ http://purl.obolibrary.org/obo/UBERON_0005011 GO:0042742 biolink:BiologicalProcess defense response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. hp.json defense response to bacterium, incompatible interaction|defence response to bacterium|resistance response to pathogenic bacteria|defense response to bacteria|defence response to bacteria|resistance response to pathogenic bacterium|antibacterial peptide activity http://purl.obolibrary.org/obo/GO_0042742 GO:0042745 biolink:BiologicalProcess circadian sleep/wake cycle The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. hp.json http://purl.obolibrary.org/obo/GO_0042745 UBERON:0005018 biolink:AnatomicalEntity mucosa of nasal septum A mucosa that is part of a nasal septum [Automatically generated definition]. FMA:60113|EMAPA:36028 hp.json nasal septum mucosa of organ|nasal septum mucous membrane|mucosa of organ of nasal septum|nasal septum mucosa|nasal septum organ mucosa|organ mucosa of nasal septum|mucous membrane of nasal septum http://purl.obolibrary.org/obo/UBERON_0005018 UBERON:0005019 biolink:AnatomicalEntity mucosa of palate A mucosa that is part of a palate [Automatically generated definition]. FMA:59765 hp.json palate mucosa of organ|mucous membrane of oral roof|oral roof mucosa of organ|organ mucosa of oral roof|oral roof mucosa|mucosa of organ of roof of mouth|palate mucosa|roof of mouth mucous membrane|oral roof organ mucosa|mucosa of oral roof|palate organ mucosa|palate mucous membrane|roof of mouth mucosa|roof of mouth organ mucosa|oral roof mucous membrane|mucosa of organ of oral roof|mucosa of organ of palate|organ mucosa of palate|mucous membrane of palate|organ mucosa of roof of mouth|roof of mouth mucosa of organ|mucous membrane of roof of mouth|mucosa of roof of mouth http://purl.obolibrary.org/obo/UBERON_0005019 CHEBI:17485 biolink:ChemicalSubstance homocystine An organic disulfide obtained by oxidative dimerisation of homocysteine. KEGG:C01817|Reaxys:1728581|HMDB:HMDB0000575|CAS:462-10-2|PMID:11592966|CAS:462-10-2|PMID:11896744 hp.json 4,4'-disulfanediylbis(2-aminobutanoic acid)|4,4'-Dithiobis(2-aminobutyric acid)|Homocystine|4,4'-dithiobis(2-aminobutyric acid) http://purl.obolibrary.org/obo/CHEBI_17485 3_STAR UBERON:0005017 biolink:AnatomicalEntity mucosa of lacrimal sac A mucosa that is part of a lacrimal sac [Automatically generated definition]. FMA:72061 hp.json lacrimal sac mucosa|lacrimal sac organ mucosa|lacrimal sac mucous membrane|mucosa of organ of lacrimal sac|mucous membrane of lacrimal sac|organ mucosa of lacrimal sac|lacrimal sac mucosa of organ http://purl.obolibrary.org/obo/UBERON_0005017 UBERON:0005014 biolink:AnatomicalEntity mucosa of female urethra A mucosa that is part of a female urethra [Automatically generated definition]. FMA:239940 hp.json female urethra mucosa|female urethra organ mucosa|female urethra mucous membrane|mucosa of organ of female urethra|organ mucosa of female urethra|mucous membrane of female urethra|female urethra mucosa of organ http://purl.obolibrary.org/obo/UBERON_0005014 GO:0042752 biolink:BiologicalProcess regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. hp.json http://purl.obolibrary.org/obo/GO_0042752 UBERON:0005001 biolink:AnatomicalEntity mucosa of common hepatic duct A mucosa that is part of a common hepatic duct [Automatically generated definition]. FMA:14691 hp.json common hepatic duct mucosa|common hepatic duct organ mucosa|hepatic duct mucosa of organ|mucosa of organ of common hepatic duct|common hepatic duct mucous membrane|common hepatic ductal mucosa|hepatic duct mucous membrane|mucosa of organ of hepatic duct|hepatic duct mucosa|hepatic duct organ mucosa|mucous membrane of common hepatic duct|organ mucosa of common hepatic duct|mucosa of hepatic duct|common hepatic duct mucosa of organ|mucous membrane of hepatic duct|organ mucosa of hepatic duct http://purl.obolibrary.org/obo/UBERON_0005001 UBERON:0005002 biolink:AnatomicalEntity mucosa of right hepatic duct A mucosa that is part of a right hepatic duct [Automatically generated definition]. FMA:14692 hp.json right hepatic duct mucosa of organ|right hepatic duct mucosa|right hepatic duct organ mucosa|right hepatic duct mucous membrane|right hepatic ductal mucosa|mucosa of organ of right hepatic duct|mucous membrane of right hepatic duct|organ mucosa of right hepatic duct http://purl.obolibrary.org/obo/UBERON_0005002 UBERON:0005000 biolink:AnatomicalEntity mucosa of common bile duct A mucosa that is part of a common bile duct [Automatically generated definition]. FMA:14688 hp.json common bile ductal mucosa|ductus choledochus (biliaris) mucosa of organ|organ mucosa of common bile duct|organ mucosa of ductus choledochus (biliaris)|mucous membrane of ductus choledochus (biliaris)|mucous membrane of common bile duct|mucosa of ductus choledochus (biliaris)|common bile duct mucosa|common bile duct organ mucosa|common bile duct mucosa of organ|mucosa of organ of ductus choledochus (biliaris)|ductus choledochus (biliaris) mucous membrane|ductus choledochus (biliaris) mucosa|ductus choledochus (biliaris) organ mucosa|common bile duct mucous membrane|mucosa of organ of common bile duct http://purl.obolibrary.org/obo/UBERON_0005000 GO:0042754 biolink:BiologicalProcess negative regulation of circadian rhythm Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior. hp.json downregulation of circadian rhythm|down regulation of circadian rhythm|inhibition of circadian rhythm|down-regulation of circadian rhythm http://purl.obolibrary.org/obo/GO_0042754 GO:0042753 biolink:BiologicalProcess positive regulation of circadian rhythm Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior. hp.json up-regulation of circadian rhythm|activation of circadian rhythm|upregulation of circadian rhythm|up regulation of circadian rhythm|stimulation of circadian rhythm http://purl.obolibrary.org/obo/GO_0042753 GO:0042756 biolink:BiologicalProcess drinking behavior The specific behavior of an organism relating to the intake of liquids, especially water. hp.json drinking behaviour http://purl.obolibrary.org/obo/GO_0042756 GO:0042755 biolink:BiologicalProcess eating behavior The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue. hp.json eating behaviour http://purl.obolibrary.org/obo/GO_0042755 CHEBI:17478 biolink:ChemicalSubstance aldehyde A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group. KEGG:C00071 hp.json RC(=O)H|aldehido|Aldehyd|aldehydes|aldehydes|aldehyde|an aldehyde|aldehyde|RCHO|aldehydum|aldehidos|Aldehyde http://purl.obolibrary.org/obo/CHEBI_17478 3_STAR UBERON:0005005 biolink:AnatomicalEntity mucosa of left ureter A mucosa that is part of a left ureter [Automatically generated definition]. FMA:17807 hp.json left ureteral mucosa|mucous membrane of left ureter|left ureter mucosa of organ|organ mucosa of left ureter|left ureter mucous membrane|mucosa of organ of left ureter|left ureter mucosa|left ureter organ mucosa http://purl.obolibrary.org/obo/UBERON_0005005 human_reference_atlas UBERON:0005006 biolink:AnatomicalEntity mucosa of renal pelvis A mucosa that is part of a renal pelvis [Automatically generated definition]. FMA:17931 hp.json organ mucosa of renal pelvis|mucous membrane of renal pelvis|pelvis of ureter mucous membrane|mucosa of organ of pelvis of ureter|renal pelvis mucosa of organ|pelvis of ureter mucosa|mucosa of pelvis of ureter|tunica mucosa pelvis renalis|pelvis of ureter organ mucosa|kidney pelvis mucosa|organ mucosa of pelvis of ureter|mucous membrane of pelvis of ureter|kidney pelvis organ mucosa|renal pelvis mucous membrane|mucous membrane of kidney pelvis|organ mucosa of kidney pelvis|kidney pelvis mucosa of organ|mucosa of kidney pelvis|mucosa of organ of renal pelvis|pelvis of ureter mucosa of organ|renal pelvic mucosa|renal pelvis mucosa|mucosa of organ of kidney pelvis|renal pelvis organ mucosa|kidney pelvis mucous membrane http://purl.obolibrary.org/obo/UBERON_0005006 UBERON:0005003 biolink:AnatomicalEntity mucosa of left hepatic duct A mucosa that is part of a left hepatic duct [Automatically generated definition]. FMA:14693 hp.json mucosa of organ of left hepatic duct|left hepatic duct mucous membrane|left hepatic duct mucosa|left hepatic duct organ mucosa|organ mucosa of left hepatic duct|left hepatic duct mucosa of organ|mucous membrane of left hepatic duct|left hepatic ductal mucosa http://purl.obolibrary.org/obo/UBERON_0005003 UBERON:0005004 biolink:AnatomicalEntity mucosa of right ureter A mucosa that is part of a right ureter [Automatically generated definition]. FMA:17806 hp.json mucosa of organ of right ureter|mucous membrane of right ureter|organ mucosa of right ureter|right ureter mucosa|right ureter organ mucosa|right ureter mucosa of organ|right ureteral mucosa|right ureter mucous membrane http://purl.obolibrary.org/obo/UBERON_0005004 HP:0012220 biolink:PhenotypicFeature Non-caseating epithelioid cell granulomatosis The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). UMLS:C4022999 hp.json http://purl.obolibrary.org/obo/HP_0012220 HP:0012221 biolink:PhenotypicFeature Pretibial blistering A type of blistering that affects the skin of the tibial region. UMLS:C0432321|SNOMEDCT_US:67653003|MSH:C535494 hp.json Pretibial epidermolysis bullosa http://purl.obolibrary.org/obo/HP_0012221 HGNC:12765 biolink:Gene FOXN1 (human) A protein coding gene FOXN1 in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12765 HP:0012222 biolink:PhenotypicFeature Arachnoid hemangiomatosis The presence of multiple hemangiomas in the arachnoid. UMLS:C4022998 hp.json http://purl.obolibrary.org/obo/HP_0012222 HP:0012223 biolink:PhenotypicFeature Splenic rupture A breach of the capsule of the spleen. SNOMEDCT_US:234506007|MSH:D013161|UMLS:C0038000 hp.json Splenic rupture|Ruptured spleen http://purl.obolibrary.org/obo/HP_0012223 GO:0003157 biolink:BiologicalProcess endocardium development The process whose specific outcome is the progression of the endocardium over time, from its formation to the mature structure. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. hp.json http://purl.obolibrary.org/obo/GO_0003157 HP:0012224 biolink:PhenotypicFeature Circulating immune complexes Persistence of immune complexes in the blood circulation. UMLS:C3887628 hp.json http://purl.obolibrary.org/obo/HP_0012224 HP:0012225 biolink:PhenotypicFeature Oligodontia of primary teeth Reduced number of primary teeth. UMLS:C4280316|UMLS:C4022997 hp.json Partial anodontia of primary teeth|Decreased number of baby teeth|Fewer deciduous teeth than normal|Failure of development of some deciduous teeth|Missing some primary teeth|Fewer primary teeth than normal|Failure of development of some primary teeth|Missing some milk teeth|Decreased number of deciduous teeth|Missing some baby teeth|Decreased number of primary teeth|Decreased number of milk teeth|Fewer baby teeth than normal|Partial anodontia of deciduous teeth http://purl.obolibrary.org/obo/HP_0012225 GO:0003156 biolink:BiologicalProcess regulation of animal organ formation Any process that modulates the rate, frequency or extent of animal organ formation. Organ formation is the process pertaining to the initial formation of an organ from unspecified parts. The process begins with the specific processes that contribute to the appearance of the discrete structure, such as inductive events, and ends when the structural rudiment of the organ is recognizable, such as a condensation of mesenchymal cells into the organ rudiment. hp.json http://purl.obolibrary.org/obo/GO_0003156 GO:0003159 biolink:BiologicalProcess morphogenesis of an endothelium The process in which the anatomical structure of an endothelium is generated and organized. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells. hp.json http://purl.obolibrary.org/obo/GO_0003159 HP:0012226 biolink:PhenotypicFeature Ovarian teratoma The presence of a teratoma in the ovary. UMLS:C0280131|NCIT:C3403|SNOMEDCT_US:716077006 hp.json http://purl.obolibrary.org/obo/HP_0012226 GO:0003158 biolink:BiologicalProcess endothelium development The process whose specific outcome is the progression of an endothelium over time, from its formation to the mature structure. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells. hp.json http://purl.obolibrary.org/obo/GO_0003158 HP:0012227 biolink:PhenotypicFeature Urethral stricture Narrowing of the urethra associated with inflammation or scar tissue. SNOMEDCT_US:76618002|SNOMEDCT_US:236647003|UMLS:C0041974|MSH:D014525 hp.json http://purl.obolibrary.org/obo/HP_0012227 HP:0000239 biolink:PhenotypicFeature Large fontanelles In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. SNOMEDCT_US:276709006|UMLS:C4072822|UMLS:C4072821|UMLS:C4072820|UMLS:C0456132 hp.json Large fontanelle|Wide fontanelles|Wide bregma sutures|Large, late-closing fontanelle|Large fontanels|Enlarged fontanelles|Large fontanel|Large bregma sutures|Persistent wide fontanel http://purl.obolibrary.org/obo/HP_0000239 HP:0000238 biolink:PhenotypicFeature Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. UMLS:C0020255|SNOMEDCT_US:230745008|MSH:D006849 hp.json Too much cerebrospinal fluid in the brain|Nonsyndromal hydrocephalus|Hydrocephaly http://purl.obolibrary.org/obo/HP_0000238 GO:0003152 biolink:BiologicalProcess morphogenesis of an epithelial fold involved in embryonic heart tube formation The morphogenetic process in which an epithelial sheet bends along a linear axis, contributing to embryonic heart tube formation. hp.json http://purl.obolibrary.org/obo/GO_0003152 GO:0003151 biolink:BiologicalProcess outflow tract morphogenesis The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries. hp.json http://purl.obolibrary.org/obo/GO_0003151 GO:0003150 biolink:BiologicalProcess muscular septum morphogenesis The process in which the muscular septum is generated and organized. The muscular septum is the lower part of the ventricular septum. hp.json http://purl.obolibrary.org/obo/GO_0003150 HP:0002894 biolink:PhenotypicFeature Neoplasm of the pancreas A tumor (abnormal growth of tissue) of the pancreas. UMLS:C0346647|UMLS:C0030297|SNOMEDCT_US:126859007|MSH:D010190|NCIT:C3262|SNOMEDCT_US:363418001|UMLS:C1842408 hp.json Cancer of the pancreas|Pancreatic tumor|Pancreatic tumour|increased risk of pancreatic cancer|Pancreatic cancer|Neoplasia of the pancreas http://purl.obolibrary.org/obo/HP_0002894 HP:0002895 biolink:PhenotypicFeature Papillary thyroid carcinoma The presence of a papillary adenocarcinoma of the thyroid gland. NCIT:C2853|SNOMEDCT_US:255029007|UMLS:C0238463|MSH:C536915 hp.json Thyroid papillary carcinoma|Papillary carcinoma of thyroid http://purl.obolibrary.org/obo/HP_0002895 HP:0000230 biolink:PhenotypicFeature Gingivitis Inflammation of the gingiva. MSH:D005891|UMLS:C0017574|SNOMEDCT_US:66383009 hp.json Gingival inflammation|Inflamed gums|Red and swollen gums http://purl.obolibrary.org/obo/HP_0000230 hposlim_core HP:0000233 biolink:PhenotypicFeature Thin vermilion border Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). UMLS:C0578038|SNOMEDCT_US:301348000 hp.json Thin vermillion|Decreased volume of lip|Thin lips|Decreased volume of lip vermillion|Thin vermilion borders http://purl.obolibrary.org/obo/HP_0000233 HP:0000232 biolink:PhenotypicFeature Everted lower lip vermilion An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. UMLS:C1853246|UMLS:C1866234 hp.json Everted prominent lower lip|Outward turned lower lip|Protruding lower lip|Drooping lower lip|Everted lower lip|Eclabium of lower lip http://purl.obolibrary.org/obo/HP_0000232 hposlim_core HP:0002893 biolink:PhenotypicFeature Pituitary adenoma A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). UMLS:C0032000|ICD-O:M8272/0|MSH:D010911|SNOMEDCT_US:254956000|NCIT:C2855|SNOMEDCT_US:128664001 hp.json Pituitary gland adenoma|Noncancerous tumour in pituitary gland|Noncancerous tumor in pituitary gland http://purl.obolibrary.org/obo/HP_0002893 HP:0002898 biolink:PhenotypicFeature Embryonal neoplasm UMLS:C0027654|MSH:D009373 hp.json Embryonal tumours|Embryonal tumors|Embryonal neoplasia http://purl.obolibrary.org/obo/HP_0002898 HP:0000235 biolink:PhenotypicFeature Abnormality of the fontanelles or cranial sutures Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). UMLS:C4025876 hp.json http://purl.obolibrary.org/obo/HP_0000235 HP:0000234 biolink:PhenotypicFeature Abnormality of the head An abnormality of the head. UMLS:C4021812 hp.json Head abnormality|Abnormal head|Abnormality of the head http://purl.obolibrary.org/obo/HP_0000234 HP:0000237 biolink:PhenotypicFeature Small anterior fontanelle Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. UMLS:C1859455 hp.json Small anterior fontanel|Small forehead fontanel http://purl.obolibrary.org/obo/HP_0000237 HP:0002896 biolink:PhenotypicFeature Neoplasm of the liver A tumor (abnormal growth of tissue) of the liver. MSH:D008113|NCIT:C3262|UMLS:C0023903|UMLS:C0345904|SNOMEDCT_US:126851005|SNOMEDCT_US:93870000 hp.json Liver tumor|Liver tumour|Liver cancer http://purl.obolibrary.org/obo/HP_0002896 HP:0002897 biolink:PhenotypicFeature Parathyroid adenoma A benign tumor of the parathyroid gland that can cause hyperparathyroidism. UMLS:C0262587|MSH:D010282|SNOMEDCT_US:128474007|ICD-10:D35.1|NCIT:C2855 hp.json Parathyroid adenomas http://purl.obolibrary.org/obo/HP_0002897 HP:0000236 biolink:PhenotypicFeature Abnormality of the anterior fontanelle An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. UMLS:C4025875 hp.json Abnormality of the forehead soft spot http://purl.obolibrary.org/obo/HP_0000236 HP:0012228 biolink:PhenotypicFeature Tension-type headache A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs. UMLS:C0033893|SNOMEDCT_US:66551002|ICD-10:G44.2|MSH:D018781|SNOMEDCT_US:398057008 hp.json Tension-type headache http://purl.obolibrary.org/obo/HP_0012228 HP:0012229 biolink:PhenotypicFeature CSF pleocytosis An increased white blood cell count in the cerebrospinal fluid. SNOMEDCT_US:91454002|MSH:D007964|UMLS:C0151857 hp.json Increased leukocyte count in CSF|Cerebrospinal fluid pleocytosis http://purl.obolibrary.org/obo/HP_0012229 HP:0002890 biolink:PhenotypicFeature Thyroid carcinoma The presence of a carcinoma of the thyroid gland. NCIT:C2916|MSH:D013964|UMLS:C0549473 hp.json http://purl.obolibrary.org/obo/HP_0002890 HP:0002891 biolink:PhenotypicFeature Uterine leiomyosarcoma The presence of a leiomyosarcoma of the uterus. NCIT:C3158|SNOMEDCT_US:447389009|UMLS:C0280631 hp.json http://purl.obolibrary.org/obo/HP_0002891 HP:0012210 biolink:PhenotypicFeature Abnormal renal morphology Any structural anomaly of the kidney. Fyler:4512|SNOMEDCT_US:44513007|UMLS:C0266292 hp.json Abnormal kidney morphology|Kidney structure issue|Structural kidney abnormalities|Abnormally shaped kidney|Kidney malformation|Structural renal anomalies|Structural anomalies of the renal tract|Renal malformation http://purl.obolibrary.org/obo/HP_0012210 HP:0012211 biolink:PhenotypicFeature Abnormal renal physiology An abnormal functionality of the kidney. SNOMEDCT_US:39539005|UMLS:C0151746 hp.json Abnormal kidney function|Kidney function issue|Abnormal renal function|Abnormality of renal physiology|Renal functional abnormality http://purl.obolibrary.org/obo/HP_0012211 HP:0012212 biolink:PhenotypicFeature Abnormal glomerular filtration rate An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. UMLS:C0854050 hp.json Abnormal GFR http://purl.obolibrary.org/obo/HP_0012212 HP:0012213 biolink:PhenotypicFeature Decreased glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. UMLS:C0853068 hp.json Reduced creatinine clearance|Impaired renal creatinine clearance|Decreased GFR http://purl.obolibrary.org/obo/HP_0012213 GO:0003168 biolink:BiologicalProcess Purkinje myocyte differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a Purkinje myocyte (also known as cardiac Purkinje fiber cell). These cells are specialized cardiomyocytes that receive signals from the bundle of His and innervate the ventricular cardiac muscle. hp.json cardiac Purkinje fiber cell differentiation http://purl.obolibrary.org/obo/GO_0003168 HP:0012214 biolink:PhenotypicFeature Increased glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. UMLS:C0856948 hp.json Increased GFR http://purl.obolibrary.org/obo/HP_0012214 HP:0012215 biolink:PhenotypicFeature Testicular microlithiasis The deposition of calcium phosphate microliths within the seminiferous tubules. MSH:C566478|UMLS:C1864873|SNOMEDCT_US:117261000119108 hp.json http://purl.obolibrary.org/obo/HP_0012215 HP:0012216 biolink:PhenotypicFeature Entrapment neuropathy of suprascapular nerve An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region. SNOMEDCT_US:230635000|UMLS:C0393890 hp.json Suprascapular nerve entrapment http://purl.obolibrary.org/obo/HP_0012216 GO:0003169 biolink:BiologicalProcess coronary vein morphogenesis The process in which the anatomical structures of veins of the heart are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0003169 GO:0003164 biolink:BiologicalProcess His-Purkinje system development The process whose specific outcome is the progression of the His-Purkinje system over time, from its formation to the mature structure. The His-Purkinje system receives signals from the AV node and is composed of the fibers that regulate cardiac muscle contraction in the ventricles. hp.json http://purl.obolibrary.org/obo/GO_0003164 GO:0003163 biolink:BiologicalProcess sinoatrial node development The process whose specific outcome is the progression of the sinoatrial (SA) node over time, from its formation to the mature structure. The SA node is part of the cardiac conduction system that controls the timing of heart muscle contraction. It relays electrical signals to the AV node. hp.json sinus node development|SAN development|SA node development http://purl.obolibrary.org/obo/GO_0003163 GO:0003165 biolink:BiologicalProcess Purkinje myocyte development The process whose specific outcome is the progression of a Purkinje myocyte over time, from its formation to the mature structure. The Purkinje myocyte (also known as cardiac Purkinje fiber) is part of the cardiac conduction system that receives signals from the bundle of His and innervates the ventricular cardiac muscle. hp.json cardiac Purkinje fiber development http://purl.obolibrary.org/obo/GO_0003165 GO:0003160 biolink:BiologicalProcess endocardium morphogenesis The process in which the anatomical structure of the endocardium is generated and organized. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. hp.json http://purl.obolibrary.org/obo/GO_0003160 GO:0003162 biolink:BiologicalProcess atrioventricular node development The process whose specific outcome is the progression of the atrioventricular (AV) node over time, from its formation to the mature structure. The AV node is part of the cardiac conduction system that controls the timing of ventricle contraction by receiving electrical signals from the sinoatrial (SA) node and relaying them to the His-Purkinje system. hp.json AV node development http://purl.obolibrary.org/obo/GO_0003162 GO:0003161 biolink:BiologicalProcess cardiac conduction system development The process whose specific outcome is the progression of the cardiac conduction system over time, from its formation to the mature structure. The cardiac conduction system consists of specialized cardiomyocytes that regulate the frequency of heart beat. hp.json heart conduction system development|cardiac impulse conducting system development http://purl.obolibrary.org/obo/GO_0003161 HP:0000242 biolink:PhenotypicFeature Parietal bossing Parietal bossing is a marked prominence in the parietal region. UMLS:C1857126 hp.json Bossing of parietal bone|Biparietal bossing http://purl.obolibrary.org/obo/HP_0000242 HP:0000244 biolink:PhenotypicFeature Brachyturricephaly Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. UMLS:C1857484 hp.json Brachy-turricephaly|Turribrachycephaly|High, prominent forehead http://purl.obolibrary.org/obo/HP_0000244 HP:0000243 biolink:PhenotypicFeature Trigonocephaly Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. MSH:D003398|UMLS:C4280666|UMLS:C4280665|SNOMEDCT_US:28740008|UMLS:C0265535 hp.json Wedge shaped cranium|Wedge shaped head|Triangular skull shape|Triangular cranium shape|Triangular head shape|Wedge shaped skull http://purl.obolibrary.org/obo/HP_0000243 hposlim_core HP:0000246 biolink:PhenotypicFeature Sinusitis Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. MSH:D010254|SNOMEDCT_US:7393007|UMLS:C0037199|UMLS:C0030469|MSH:D012852|SNOMEDCT_US:36971009 hp.json Sinus disease|Sinus infection|Sinus inflammation http://purl.obolibrary.org/obo/HP_0000246 hposlim_core HP:0000245 biolink:PhenotypicFeature Abnormal paranasal sinus morphology Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. UMLS:C4025873 hp.json Abnormality of the paranasal sinuses|Abnormality of the sinuses of the head|Abnormality of the sinuses http://purl.obolibrary.org/obo/HP_0000245 HP:0000248 biolink:PhenotypicFeature Brachycephaly An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. UMLS:C4072824|MSH:D003398|UMLS:C0221356|UMLS:C4072823|SNOMEDCT_US:13649004 hp.json Short and broad skull|Wide skull shape|Broad skull shape|Broad head shape|Wide head shape|Wide cranium shape|Broad cranium shape http://purl.obolibrary.org/obo/HP_0000248 hposlim_core HP:0012217 biolink:PhenotypicFeature Increased urinary porphobilinogen Increased concentration of porphobilinogen in the urine. UMLS:C4023000 hp.json http://purl.obolibrary.org/obo/HP_0012217 HP:0012218 biolink:PhenotypicFeature Alveolar soft part sarcoma A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. SNOMEDCT_US:88195001|MSH:D018234|SNOMEDCT_US:404056007|UMLS:C0206657 hp.json http://purl.obolibrary.org/obo/HP_0012218 HP:0012219 biolink:PhenotypicFeature Erythema nodosum An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. UMLS:C0014743|MSH:D004893|SNOMEDCT_US:32861005 hp.json http://purl.obolibrary.org/obo/HP_0012219 HP:0000240 biolink:PhenotypicFeature Abnormality of skull size Any abnormality of the size of the skull. UMLS:C4025874 hp.json Abnormality of skull size|Abnormality of cranium size|Abnormality of head size http://purl.obolibrary.org/obo/HP_0000240 HP:0012200 biolink:PhenotypicFeature Abnormality of prothrombin An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. UMLS:C4023005 hp.json http://purl.obolibrary.org/obo/HP_0012200 HP:0012201 biolink:PhenotypicFeature obsolete Reduced prothrombin activity hp.json http://purl.obolibrary.org/obo/HP_0012201 GO:0005798 biolink:CellularComponent Golgi-associated vesicle Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell. NIF_Subcellular:sao819927218 hp.json Golgi vesicle|vesicular component http://purl.obolibrary.org/obo/GO_0005798 HP:0012202 biolink:PhenotypicFeature Increased serum bile acid concentration An increase in the concentration of bile acid in the blood. UMLS:C4023004 hp.json http://purl.obolibrary.org/obo/HP_0012202 HP:0012203 biolink:PhenotypicFeature Onychomycosis A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. MSH:D014009|UMLS:C0040261|SNOMEDCT_US:414941008 hp.json http://purl.obolibrary.org/obo/HP_0012203 HP:0012204 biolink:PhenotypicFeature Recurrent vulvovaginal candidiasis Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida. UMLS:C4023003 hp.json http://purl.obolibrary.org/obo/HP_0012204 HP:0012205 biolink:PhenotypicFeature Globozoospermia Any structural anomaly of the acrosome resulting in a round sperm head. UMLS:C0403825|MSH:D000072660|SNOMEDCT_US:236818008 hp.json http://purl.obolibrary.org/obo/HP_0012205 HP:0000217 biolink:PhenotypicFeature Xerostomia Dryness of the mouth due to salivary gland dysfunction. SNOMEDCT_US:87715008|MSH:D014987|SNOMEDCT_US:56893005|SNOMEDCT_US:300268000|UMLS:C0043352 hp.json Dry mouth syndrome|Decreased salivary flow|Reduced salivation|Dry mouth http://purl.obolibrary.org/obo/HP_0000217 hposlim_core GO:0005794 biolink:CellularComponent Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. NIF_Subcellular:sao451912436|Wikipedia:Golgi_apparatus hp.json Golgi complex|Golgi ribbon|Golgi http://purl.obolibrary.org/obo/GO_0005794 goslim_pir|goslim_plant|goslim_drosophila|goslim_aspergillus|goslim_chembl|goslim_mouse|goslim_yeast|goslim_candida|goslim_agr|goslim_generic HP:0000216 biolink:PhenotypicFeature Broad secondary alveolar ridge UMLS:C1839276 hp.json Secondary alveolar ridges http://purl.obolibrary.org/obo/HP_0000216 HP:0002878 biolink:PhenotypicFeature Respiratory failure A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. SNOMEDCT_US:409622000|MSH:D012131|UMLS:C1145670 hp.json Respiratory failure http://purl.obolibrary.org/obo/HP_0002878 GO:0003133 biolink:BiologicalProcess endodermal-mesodermal cell signaling Any process that mediates the transfer of information from endodermal cells to mesodermal cells. hp.json endodermal-mesodermal cell signalling http://purl.obolibrary.org/obo/GO_0003133 HP:0000219 biolink:PhenotypicFeature Thin upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). UMLS:C1865017 hp.json Thin vermilion border of upper lip|Decreased volume of upper lip|Thin red part of the upper lip|Thin upper lips|Decreased height of upper lip vermilion|Thin upper lip|Decreased volume of upper lip vermilion http://purl.obolibrary.org/obo/HP_0000219 hposlim_core HP:0000218 biolink:PhenotypicFeature High palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). UMLS:C0240635|SNOMEDCT_US:27272007 hp.json Palate, high-arched|Elevated palate|High arched palate|Increased palatal height|Ogival palate|High, arched palate|High palate|Palate high-arched|High-arched palate http://purl.obolibrary.org/obo/HP_0000218 HP:0002879 biolink:PhenotypicFeature Anisospondyly Abnormally increased variability of the size of the vertebral bodies. UMLS:C1857101 hp.json http://purl.obolibrary.org/obo/HP_0002879 HP:0002872 biolink:PhenotypicFeature Apneic episodes precipitated by illness, fatigue, stress Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. UMLS:C3806462 hp.json Episodic apnea induced by febrile illness or stress http://purl.obolibrary.org/obo/HP_0002872 HP:0000211 biolink:PhenotypicFeature Trismus Limitation in the ability to open the mouth. UMLS:C0041105|MSH:D014313|UMLS:C1848474|UMLS:C4228933|SNOMEDCT_US:87866006|UMLS:C4280672 hp.json Limited jaw movement|Decrease in jaw mobility|Limited jaw opening|Lockjaw|Limited jaw mobility|Decrease in jaw opening|Decrease in mandibular opening|Decrease in mandibular movement|Limited mandibular mobility|Limited mandibular opening|Decrease in mandibular mobility|Limited mouth opening|Decrease in jaw movement|Pain of muscles of mastication http://purl.obolibrary.org/obo/HP_0000211 HP:0002870 biolink:PhenotypicFeature Obstructive sleep apnea A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. UMLS:C0520679|MSH:D020181|SNOMEDCT_US:78275009 hp.json Obstructive sleep apnoea http://purl.obolibrary.org/obo/HP_0002870 HP:0002871 biolink:PhenotypicFeature Central apnea Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. MSH:D020182|UMLS:C0520680 hp.json Central apnoea http://purl.obolibrary.org/obo/HP_0002871 HP:0002876 biolink:PhenotypicFeature Episodic tachypnea Episodes of very rapid breathing. UMLS:C3806218 hp.json Hyperpnea, episodic http://purl.obolibrary.org/obo/HP_0002876 HP:0000212 biolink:PhenotypicFeature Gingival overgrowth Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. UMLS:C0376480|SNOMEDCT_US:54711002|MSH:D005886|MSH:D005885|SNOMEDCT_US:441787004|MSH:D019214|UMLS:C0017567|SNOMEDCT_US:441798003|UMLS:C0017566 hp.json Gingival enlargement|Gum hypertrophy|Gum enlargement|Oral soft tissue hyperplasia|Hypertrophic gingivitis|Gingival hyperplasia http://purl.obolibrary.org/obo/HP_0000212 hposlim_core HP:0002877 biolink:PhenotypicFeature Nocturnal hypoventilation An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide. UMLS:C1843643 hp.json Nocturnal slow breathing|Nocturnal under breathing|Hypoventilation during sleep|Nocturnal hypopnea http://purl.obolibrary.org/obo/HP_0002877 HP:0000215 biolink:PhenotypicFeature Thick upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). UMLS:C1846423 hp.json Thick upper lip|Prominent upper lip|Full upper lip|Increased height of upper lip vermilion|Increased volume of upper lip|Increased volume of upper lip vermilion|Thick vermilion border of upper lip|Plump upper lip|Full upper lip vermilion|Prominent upper lip vermilion|Thick red part of the upper lip http://purl.obolibrary.org/obo/HP_0000215 hposlim_core HP:0000214 biolink:PhenotypicFeature Lip telangiectasia Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. UMLS:C1857697|UMLS:C4280671|UMLS:C4280670 hp.json Labial angioectasias|Telangiectasia of the lips|Angioectasias of the lip|Spider veins of the lip|Lip telangiectases|Labial telangiectasia http://purl.obolibrary.org/obo/HP_0000214 CHEBI:134249 biolink:ChemicalSubstance alkanesulfonate oxoanion An alkanesulfonate in which the carbon at position 1 is attached to R, which can represent hydrogens, a carbon chain, or other groups. MetaCyc:Alkanesulfonates hp.json alkanesulfonate oxoanions|an alkanesulfonate|alkanesulfonates http://purl.obolibrary.org/obo/CHEBI_134249 3_STAR HP:0002875 biolink:PhenotypicFeature Exertional dyspnea Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. SNOMEDCT_US:60845006|UMLS:C0231807 hp.json Shortness of breathing upon physical activity|Exertional dyspnoea|Exertional breathlessness http://purl.obolibrary.org/obo/HP_0002875 HP:0012206 biolink:PhenotypicFeature Abnormal sperm motility An anomaly of the mobility of ejaculated sperm. UMLS:C0855512 hp.json Abnormal sperm motility http://purl.obolibrary.org/obo/HP_0012206 HP:0012207 biolink:PhenotypicFeature Reduced sperm motility An abnormal reduction in the mobility of ejaculated sperm. UMLS:C4023002 hp.json Reduced sperm motility|Asthenospermia http://purl.obolibrary.org/obo/HP_0012207 HP:0012208 biolink:PhenotypicFeature Immotile sperm A lack of mobility of ejaculated sperm. UMLS:C4023001 hp.json Nonmotile sperm http://purl.obolibrary.org/obo/HP_0012208 HP:0012209 biolink:PhenotypicFeature Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor. SNOMEDCT_US:445227008|SNOMEDCT_US:128832006|UMLS:C0349639|SNOMEDCT_US:277587001|MSH:D054429 hp.json Juvenile myelomonocytic leukaemia http://purl.obolibrary.org/obo/HP_0012209 GO:0003149 biolink:BiologicalProcess membranous septum morphogenesis The process in which the membranous septum is generated and organized. The membranous septum is the upper part of ventricular septum. hp.json http://purl.obolibrary.org/obo/GO_0003149 GO:0003145 biolink:BiologicalProcess embryonic heart tube formation via epithelial folding The process that gives rise to the embryonic heart tube by the cells of the heart field along a linear axis. hp.json http://purl.obolibrary.org/obo/GO_0003145 GO:0003148 biolink:BiologicalProcess outflow tract septum morphogenesis The process in which the anatomical structures of the outflow tract septum are generated and organized. The outflow tract septum is a partition in the outflow tract. hp.json http://purl.obolibrary.org/obo/GO_0003148 GO:0003147 biolink:BiologicalProcess neural crest cell migration involved in heart formation The characteristic movement of a cell from the dorsal ridge of the neural tube towards the heart and that contributes to heart formation. hp.json http://purl.obolibrary.org/obo/GO_0003147 GO:0003142 biolink:BiologicalProcess cardiogenic plate morphogenesis The process in which the anatomical structures of the cardiogenic plate are generated and organized. The cardiogenic plate is the first recognizable structure derived from the heart field. hp.json cardiac crescent morphogenesis http://purl.obolibrary.org/obo/GO_0003142 HP:0000228 biolink:PhenotypicFeature Oral cavity telangiectasia Presence of telangiectases in the oral cavity. UMLS:C4025877|UMLS:C4280667 hp.json Angioectasias of the oral cavity|Angioectasias of the mouth|Spider veins of the oral cavity|Oral cavity teleangiectasia|Spider veins of the mouth http://purl.obolibrary.org/obo/HP_0000228 HP:0000227 biolink:PhenotypicFeature Tongue telangiectasia Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. UMLS:C4025878|UMLS:C4280668 hp.json Spider veins of the tongue|Lingual angioectasias|Lingual telangiectasia|Angioectasias of the tongue http://purl.obolibrary.org/obo/HP_0000227 GO:0003144 biolink:BiologicalProcess embryonic heart tube formation The process that gives rise to the embryonic heart tube. This process pertains to the initial formation of a structure from unspecified parts. The embryonic heart tube is an epithelial tube that will give rise to the mature heart. hp.json http://purl.obolibrary.org/obo/GO_0003144 GO:0003143 biolink:BiologicalProcess embryonic heart tube morphogenesis The process in which the anatomical structures of the embryonic heart tube are generated and organized. The embryonic heart tube is an epithelial tube that will give rise to the mature heart. hp.json http://purl.obolibrary.org/obo/GO_0003143 HP:0002883 biolink:PhenotypicFeature Hyperventilation Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. MSH:D006985|SNOMEDCT_US:68978004|UMLS:C0020578 hp.json Rapid breathing http://purl.obolibrary.org/obo/HP_0002883 HP:0000220 biolink:PhenotypicFeature Velopharyngeal insufficiency Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. SNOMEDCT_US:229727006|UMLS:C0042454|UMLS:C4280669|MSH:D014681|SNOMEDCT_US:278714002|SNOMEDCT_US:232416001 hp.json Velopharyngeal dysfunction|Velopharyngeal incompetence http://purl.obolibrary.org/obo/HP_0000220 HP:0002884 biolink:PhenotypicFeature Hepatoblastoma A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. SNOMEDCT_US:45024009|SNOMEDCT_US:109843000|UMLS:C0206624|MSH:D018197|NCIT:C3728 hp.json http://purl.obolibrary.org/obo/HP_0002884 HP:0000222 biolink:PhenotypicFeature Gingival hyperkeratosis Hyperkeratosis of the gingiva. UMLS:C1857013 hp.json Hyperkeratosis, gingival http://purl.obolibrary.org/obo/HP_0000222 HP:0000221 biolink:PhenotypicFeature Furrowed tongue Accentuation of the grooves on the dorsal surface of the tongue. MSH:D014063|SNOMEDCT_US:52368004|UMLS:C0040412 hp.json Lingue plicata|Plicated tongue|Lingual furrow|Prominent tongue grooves|Fissured tongue|Grooved tongue|Scrotal tongue http://purl.obolibrary.org/obo/HP_0000221 hposlim_core HP:0002882 biolink:PhenotypicFeature Sudden episodic apnea Recurrent bouts of sudden, severe apnea that may be life-threatening. UMLS:C4025671 hp.json http://purl.obolibrary.org/obo/HP_0002882 HP:0000224 biolink:PhenotypicFeature Hypogeusia A decreased ability to perceive flavor. SNOMEDCT_US:697990000|MSH:D000370|UMLS:C0151934 hp.json Decreased taste sensation|Decreased taste http://purl.obolibrary.org/obo/HP_0000224 HP:0002888 biolink:PhenotypicFeature Ependymoma The presence of an ependymoma of the central nervous system. SNOMEDCT_US:443643007|NCIT:C3017|UMLS:C0014474|MSH:D004806|SNOMEDCT_US:57706008 hp.json http://purl.obolibrary.org/obo/HP_0002888 HP:0000223 biolink:PhenotypicFeature Abnormality of taste sensation UMLS:C4025879 hp.json Abnormality of taste sensation http://purl.obolibrary.org/obo/HP_0000223 HP:0002885 biolink:PhenotypicFeature Medulloblastoma A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. MSH:D008527|SNOMEDCT_US:443333004|UMLS:C0025149|SNOMEDCT_US:83217000|NCIT:C3222 hp.json http://purl.obolibrary.org/obo/HP_0002885 HP:0000225 biolink:PhenotypicFeature Gingival bleeding Hemorrhage affecting the gingiva. MSH:D005884|SNOMEDCT_US:86276007|UMLS:C0017565 hp.json Gingivorrhagia|Gingival hemorrhage|Gingival haemorrhage|Bleeding gums http://purl.obolibrary.org/obo/HP_0000225 HP:0002886 biolink:PhenotypicFeature Vagal paraganglioma A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. UMLS:C0474819|SNOMEDCT_US:253030004 hp.json Glomus vagale tumor|Glomus vagale paraganglioma|Vagal nerve tumours|Vagal nerve tumors|Glomus vagale tumour http://purl.obolibrary.org/obo/HP_0002886 HP:0002880 biolink:PhenotypicFeature obsolete Respiratory difficulties hp.json http://purl.obolibrary.org/obo/HP_0002880 CHEBI:134251 biolink:ChemicalSubstance guaiacols Any phenol carrying an additional methoxy substituent at the ortho-position. MetaCyc:Guaiacols hp.json 1-hydroxy-2-methoxybenzenes|2-methoxyphenol|catechol monomethyl ether|ortho-methoxyphenols|o-methoxyphenol|a guaiacol|2-methoxyphenol derivatives|o-methoxyphenols|2-methoxyphenol derivative|ortho-methoxyphenol|2-methoxyphenols|catechol monomethyl ethers http://purl.obolibrary.org/obo/CHEBI_134251 3_STAR HP:0012264 biolink:PhenotypicFeature Absent central microtubular pair morphology of respiratory motile cilia Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. UMLS:C4022982 hp.json http://purl.obolibrary.org/obo/HP_0012264 HP:0012265 biolink:PhenotypicFeature Ciliary dyskinesia A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. SNOMEDCT_US:86204009|MSH:D002925|UMLS:C0008780 hp.json Lack of coordinated beating of respiratory cilia http://purl.obolibrary.org/obo/HP_0012265 HP:0012266 biolink:PhenotypicFeature T-wave alternans A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG. UMLS:C1998313|SNOMEDCT_US:428550008 hp.json http://purl.obolibrary.org/obo/HP_0012266 HP:0012267 biolink:PhenotypicFeature Absent respiratory ciliary axoneme radial spokes Absence of the radial spokes of the axoneme of the respiratory cilium. UMLS:C4022981 hp.json http://purl.obolibrary.org/obo/HP_0012267 HP:0012268 biolink:PhenotypicFeature Myxoid liposarcoma A liposarcoma that contains myxomatous tissue. UMLS:C0206634|SNOMEDCT_US:404069006|SNOMEDCT_US:27849002|MSH:D018208 hp.json http://purl.obolibrary.org/obo/HP_0012268 HP:0012269 biolink:PhenotypicFeature Abnormal muscle glycogen content Any anomaly in the amount of glycogen in muscle tissue. UMLS:C4022980 hp.json http://purl.obolibrary.org/obo/HP_0012269 GO:0005774 biolink:CellularComponent vacuolar membrane The lipid bilayer surrounding the vacuole and separating its contents from the cytoplasm of the cell. hp.json http://purl.obolibrary.org/obo/GO_0005774 GO:0005775 biolink:CellularComponent vacuolar lumen The volume enclosed within the vacuolar membrane. hp.json http://purl.obolibrary.org/obo/GO_0005775 GO:0005773 biolink:CellularComponent vacuole A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. Wikipedia:Vacuole hp.json vacuolar carboxypeptidase Y http://purl.obolibrary.org/obo/GO_0005773 goslim_pir|goslim_plant|goslim_flybase_ribbon|goslim_drosophila|goslim_chembl|goslim_aspergillus|goslim_mouse|goslim_agr|goslim_yeast|goslim_candida|goslim_generic HP:0012260 biolink:PhenotypicFeature Abnormal central microtubular pair morphology of respiratory motile cilia A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. UMLS:C4022985 hp.json http://purl.obolibrary.org/obo/HP_0012260 HP:0012261 biolink:PhenotypicFeature Abnormal respiratory motile cilium physiology Any functional anomaly of the respiratory motile cilia. UMLS:C4022984 hp.json http://purl.obolibrary.org/obo/HP_0012261 HP:0012262 biolink:PhenotypicFeature Abnormal ciliary motility Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. UMLS:C4022983 hp.json http://purl.obolibrary.org/obo/HP_0012262 HP:0012263 biolink:PhenotypicFeature Immotile cilia UMLS:C1855672 hp.json http://purl.obolibrary.org/obo/HP_0012263 HP:0000275 biolink:PhenotypicFeature Narrow face Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). UMLS:C1837463|UMLS:C1849121 hp.json Transverse hypoplasia of face|Narrow face|Thin face|Horizontal deficiency of face|Transverse insufficiency of face|Decreased horizontal dimension of face|Narrow facies|Horizontal hypoplasia of face|Thin facies|Decreased breadth of face|Decreased transverse dimension of face|Transverse deficiency of face|Horizontal insufficiency of face|Decreased width of face http://purl.obolibrary.org/obo/HP_0000275 hposlim_core HP:0000274 biolink:PhenotypicFeature Small face A face that is short (HP:0011219) and narrow (HP:0000275). UMLS:C1855538 hp.json Hypoplasia of face|Facial hypoplasia|Small facies|Small face|Short and narrow face|Microfacies|Microface http://purl.obolibrary.org/obo/HP_0000274 HP:0000277 biolink:PhenotypicFeature Abnormal mandible morphology Any abnormality of the mandible, the bone of the lower jaw. UMLS:C4025870 hp.json Abnormality of the lower jaw bone|Anomaly of the mandible|Deformity of the lower jaw bone|Malformation of the lower jaw bone|Abnormality of the mandible|Deformity of the mandible|Malformation of the mandible http://purl.obolibrary.org/obo/HP_0000277 hposlim_core HP:0000276 biolink:PhenotypicFeature Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). UMLS:C1836047 hp.json Increased vertical dimension of face|Vertical Facial Excess|Vertical hyperplasia of face|Long face|Vertical enlargement of face|Increased height of face|Vertical overgrowth of face|Elongation of face|Increased length of face|Vertical excess of face|Long facies|Vertical elongation of face http://purl.obolibrary.org/obo/HP_0000276 hposlim_core HP:0000278 biolink:PhenotypicFeature Retrognathia An abnormality in which the mandible is mislocalised posteriorly. UMLS:C3494422|MSH:D063173 hp.json Retrognathia of lower jaw|Retrogenia|Receding mandible|Weak chin|Lower jaw retrognathia|Weak jaw|Receding chin|Receding lower jaw http://purl.obolibrary.org/obo/HP_0000278 hposlim_core CHEBI:136889 biolink:ChemicalSubstance 5beta steroid Any steroid that has beta-configuration at position 5. hp.json 5beta-steroids|5beta-steroid|5beta steroids http://purl.obolibrary.org/obo/CHEBI_136889 3_STAR UBERON:0007617 biolink:AnatomicalEntity synovial cavity of joint An anatomical cavity that surrounded_by a synovial joint. FMA:11356 hp.json joint cavity|cavitas articularis (junctura synovialis)|articular cavity (synovial joint)|cavity of synovial joint|synovial cavity http://purl.obolibrary.org/obo/UBERON_0007617 UBERON:0007616 biolink:AnatomicalEntity layer of synovial tissue A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO]. FMA:66762|BTO:0001338|CALOHA:TS-0998 hp.json stratum synoviale|synovial tissue|synovial membrane|synovium|synovial layer http://purl.obolibrary.org/obo/UBERON_0007616 HP:0000271 biolink:PhenotypicFeature Abnormality of the face An abnormality of the face. UMLS:C0266617|SNOMEDCT_US:118930001|UMLS:C4025871|SNOMEDCT_US:398302004|UMLS:C1290857|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004 hp.json Abnormal face|Facial anomaly|Disorder of face|Disorder of the face|Abnormality of the face|Anomaly of face|Anomaly of the face|Abnormality of the physiognomy|Abnormality of the visage|Facial abnormality|Abnormality of the countenance http://purl.obolibrary.org/obo/HP_0000271 hposlim_core HP:0000270 biolink:PhenotypicFeature Delayed cranial suture closure Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. UMLS:C0277828|SNOMEDCT_US:82779003 hp.json Open sutures|Late closure of fontanelle|Delayed fontanelle closure|Late closing fontanelles|Delayed closure of the fontanelles|Delayed closure of fontanelles|Broad late closing cranial sutures|Late-closing fontanelle|Delayed cranial suture closure|Delayed fontanel closure|Delayed closure of fontanels|Delayed closure of fontanel http://purl.obolibrary.org/obo/HP_0000270 HP:0000273 biolink:PhenotypicFeature Facial grimacing UMLS:C0234853|SNOMEDCT_US:37126005 hp.json Facial grimacing http://purl.obolibrary.org/obo/HP_0000273 HP:0000272 biolink:PhenotypicFeature Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. UMLS:C4280651|UMLS:C1858085 hp.json Zygomatic flattening|Underdevelopment of malar bone|Flat cheekbone|Hypotrophic malar bone|Malar hypoplasia|Depressed malar region|Decreased size of malar bone http://purl.obolibrary.org/obo/HP_0000272 hposlim_core UBERON:0007610 biolink:AnatomicalEntity tibial artery The anterior and posterior arteries created at the bifurcation of the popliteal artery. The anterior tibial artery begins at the lower border of the popliteus muscle and lies along the tibia at the distal part of the leg to surface superficially anterior to the ankle joint. Its branches are distributed throughout the leg, ankle, and pes. The posterior tibial artery begins at the lower border of the popliteus muscle, lies behind the tibia in the lower part of its course, and is found situated between the medial malleolus and the medial process of the calcaneal tuberosity. Its branches are distributed throughout the leg and foot. NCIT:C12824|EMAPA:36530|MA:0002067|UMLS:C0085427|MESH:D016909|GAID:514 hp.json http://purl.obolibrary.org/obo/UBERON_0007610 HP:0012253 biolink:PhenotypicFeature Abnormal respiratory epithelium morphology Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. UMLS:C4022991 hp.json http://purl.obolibrary.org/obo/HP_0012253 HP:0012254 biolink:PhenotypicFeature Ewing sarcoma A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. SNOMEDCT_US:76909002|UMLS:C0553580|MSH:D012512 hp.json Ewing's sarcoma http://purl.obolibrary.org/obo/HP_0012254 HP:0012255 biolink:PhenotypicFeature Dynein arm defect of respiratory motile cilia An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. UMLS:C4022990 hp.json http://purl.obolibrary.org/obo/HP_0012255 HP:0012256 biolink:PhenotypicFeature Absent outer dynein arms Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. UMLS:C4022989 hp.json http://purl.obolibrary.org/obo/HP_0012256 HP:0012257 biolink:PhenotypicFeature Absent inner dynein arms Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. UMLS:C4022988 hp.json http://purl.obolibrary.org/obo/HP_0012257 HP:0012258 biolink:PhenotypicFeature Abnormal axonemal organization of respiratory motile cilia Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. UMLS:C4022987 hp.json Abnormal axonemal organisation of respiratory motile cilia http://purl.obolibrary.org/obo/HP_0012258 HP:0012259 biolink:PhenotypicFeature Absent inner and outer dynein arms Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. UMLS:C4022986 hp.json http://purl.obolibrary.org/obo/HP_0012259 GO:0030720 biolink:BiologicalProcess oocyte localization involved in germarium-derived egg chamber formation Directed movement of the oocyte, following its specification, from its original central position in the cyst to a posterior position relative to the nurse cells of the egg chamber, and its maintenance in this posterior location. This is the first sign of anterior-posterior asymmetry in the developing egg chamber. hp.json oogenesis, oocyte localization|oogenesis, establishment and maintenance of oocyte localization|oocyte localization during oogenesis|establishment and maintenance of oocyte position during oogenesis|oocyte localization during germarium-derived egg chamber formation|establishment and maintenance of oocyte localization in egg chamber|oocyte localisation involved in germarium-derived egg chamber formation|oocyte positioning during oogenesis http://purl.obolibrary.org/obo/GO_0030720 HP:0012250 biolink:PhenotypicFeature ST segment depression An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line. SNOMEDCT_US:429622005|SNOMEDCT_US:26141007|UMLS:C0520887 hp.json http://purl.obolibrary.org/obo/HP_0012250 HP:0012251 biolink:PhenotypicFeature ST segment elevation An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. SNOMEDCT_US:164931005|SNOMEDCT_US:76388001|UMLS:C0520886 hp.json http://purl.obolibrary.org/obo/HP_0012251 HP:0012252 biolink:PhenotypicFeature Abnormal respiratory system morphology A structural anomaly of the respiratory system. Fyler:4235|UMLS:C4022992 hp.json http://purl.obolibrary.org/obo/HP_0012252 HP:0000286 biolink:PhenotypicFeature Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. UMLS:C0678230 hp.json Epicanthal folds|Epicanthic folds|Prominent eye folds|Epicanthal fold|Palpebronasal fold|Plica palpebronasalis|Eye folds http://purl.obolibrary.org/obo/HP_0000286 hposlim_core HP:0000288 biolink:PhenotypicFeature Abnormality of the philtrum An abnormality of the philtrum. UMLS:C1857045 hp.json Abnormality of the infranasal depression|Abnormality of the paralabial region|Abnormal philtrum http://purl.obolibrary.org/obo/HP_0000288 hposlim_core HP:0000287 biolink:PhenotypicFeature Increased facial adipose tissue An increased amount of subcutaneous fat tissue in the face. UMLS:C4025868|UMLS:C4280650|UMLS:C4280649 hp.json Hyperplasia of facial adipose tissue|Facial fat hyperplasia|Facial fat hypertrophy|Increased amount of facial adipose tissue|Increased amount of facial fat|Hypertrophy of facial adipose tissue|Increased volume of facial adipose tissue http://purl.obolibrary.org/obo/HP_0000287 HP:0000289 biolink:PhenotypicFeature Broad philtrum Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. UMLS:C1854111 hp.json Increased transverse dimension of philtrum|Increased breadth of philtrum|Wide philtrum|Increased horizontal dimension of philtrum|Increased width of philtrum http://purl.obolibrary.org/obo/HP_0000289 hposlim_core UBERON:0007606 biolink:AnatomicalEntity ciliated stratified columnar epithelium FMA:67521 hp.json http://purl.obolibrary.org/obo/UBERON_0007606 HP:0000280 biolink:PhenotypicFeature Coarse facial features Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. UMLS:C4072825|UMLS:C1845847 hp.json Coarse facies|Coarse facial appearance|Coarse face|Thickened facial skin with coarse facial features|Rounded and heavy facial features|Coarse facial features http://purl.obolibrary.org/obo/HP_0000280 hposlim_core HP:0000282 biolink:PhenotypicFeature Facial edema UMLS:C0542571|SNOMEDCT_US:445088006 hp.json Facial oedema|Facial puffiness|Facial swelling http://purl.obolibrary.org/obo/HP_0000282 UBERON:0007602 biolink:AnatomicalEntity stratified columnar epithelium Stratified columnar epithelia is a rare type of epithelial tissue composed of column shaped cells arranged in multiple layers. Stratified columnar epithelia are found in the ocular conjunctiva of the eye, in parts of the pharynx and anus, the female's uterus, the male urethra and vas deferens. Also found in intralobular ducts in salivary glands.[WP]. FMA:45564|UMLS:C0836132|NCIT:C33620 hp.json epithelium stratificatum columnare http://purl.obolibrary.org/obo/UBERON_0007602 UBERON:0007601 biolink:AnatomicalEntity ciliated epithelium Epithelium bearing vibratile cilia on the free surface. hp.json http://purl.obolibrary.org/obo/UBERON_0007601 HP:0000284 biolink:PhenotypicFeature obsolete Abnormality of the ocular region hp.json http://purl.obolibrary.org/obo/HP_0000284 HP:0000283 biolink:PhenotypicFeature Broad face Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). UMLS:C1859680 hp.json Horizontal hyperplasia of face|Wide facies|Increased width of face|Increased transverse dimension of face|Horizontal excess of face|Broad face|Wide face|Transverse hyperplasia of face|Increased breadth of face|Transverse excess of face|Increased horizontal dimension of face|Broad facies http://purl.obolibrary.org/obo/HP_0000283 hposlim_core HP:0012242 biolink:PhenotypicFeature Superior rectus atrophy Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. UMLS:C1851108 hp.json Rectus superior atrophy http://purl.obolibrary.org/obo/HP_0012242 HP:0012243 biolink:PhenotypicFeature Abnormal reproductive system morphology A structural or developmental anomaly of any of the tissues involved in the genital system. UMLS:C4021096 hp.json Abnormal genital system morphology http://purl.obolibrary.org/obo/HP_0012243 HP:0012244 biolink:PhenotypicFeature Abnormal sex determination Anomaly of primary or secondary sexual development or characteristics. UMLS:C4022996 hp.json http://purl.obolibrary.org/obo/HP_0012244 HP:0012245 biolink:PhenotypicFeature Sex reversal Development of the reproductive system is inconsistent with the chromosomal sex. UMLS:C4022995 hp.json http://purl.obolibrary.org/obo/HP_0012245 HP:0012246 biolink:PhenotypicFeature Oculomotor nerve palsy Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). UMLS:C0028866|SNOMEDCT_US:388980004|MSH:D015840 hp.json Oculomotor neuropathy http://purl.obolibrary.org/obo/HP_0012246 HP:0012247 biolink:PhenotypicFeature Specific anosmia Anosmia for one particular odor. UMLS:C4022994 hp.json http://purl.obolibrary.org/obo/HP_0012247 HP:0012248 biolink:PhenotypicFeature Prolonged PR interval Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). UMLS:C0600125|SNOMEDCT_US:164947007 hp.json Electrocardiographic long PR interval|Lengthened PR interval on EKG http://purl.obolibrary.org/obo/HP_0012248 HP:0012249 biolink:PhenotypicFeature Abnormal ST segment An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. UMLS:C4022993 hp.json http://purl.obolibrary.org/obo/HP_0012249 GO:0005753 biolink:CellularComponent mitochondrial proton-transporting ATP synthase complex A proton-transporting ATP synthase complex found in the mitochondrial membrane. hp.json mitochondrial respiratory chain complex V http://purl.obolibrary.org/obo/GO_0005753 HP:0012240 biolink:PhenotypicFeature Increased intramyocellular lipid droplets An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. UMLS:C4020730 hp.json Increased muscle lipid droplets http://purl.obolibrary.org/obo/HP_0012240 HP:0012241 biolink:PhenotypicFeature Levator palpebrae superioris atrophy Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. UMLS:C1851107 hp.json http://purl.obolibrary.org/obo/HP_0012241 HP:0000253 biolink:PhenotypicFeature Progressive microcephaly Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. UMLS:C1850456 hp.json Progressively abnormally small skull|Microcephaly, progressive|Progressively abnormally small cranium|Microcephaly, postnatal, progressive http://purl.obolibrary.org/obo/HP_0000253 HP:0000252 biolink:PhenotypicFeature Microcephaly Head circumference below 2 standard deviations below the mean for age and gender. SNOMEDCT_US:271611007|Fyler:4310|UMLS:C4551563 hp.json Decreased size of cranium|Abnormally small cranium|small calvarium|Reduced head circumference|small cranium|Small head|Small skull|Decreased size of head|Abnormally small head|Abnormally small skull|Decreased size of skull|Small head circumference|Decreased circumference of cranium http://purl.obolibrary.org/obo/HP_0000252 hposlim_core HP:0000255 biolink:PhenotypicFeature Acute sinusitis An acute form of sinusitis. UMLS:C0149512|SNOMEDCT_US:15805002 hp.json http://purl.obolibrary.org/obo/HP_0000255 HP:0000256 biolink:PhenotypicFeature Macrocephaly Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. UMLS:C4280664|UMLS:C4280663|Fyler:4335|UMLS:C4083076|UMLS:C4255213 hp.json Big calvaria|Big head|Increased size of skull|Large head|Megacephaly|Large head circumference|Big skull|Increased size of cranium|Large calvaria|Increased size of head|Large skull|Big cranium|Macrocrania|Large cranium|Macrocephalus http://purl.obolibrary.org/obo/HP_0000256 hposlim_core HP:0000250 biolink:PhenotypicFeature Dense calvaria An abnormal increase of density of the bones making up the calvaria. UMLS:C1854834 hp.json Dense skull cap http://purl.obolibrary.org/obo/HP_0000250 HP:0012231 biolink:PhenotypicFeature Exudative retinal detachment A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. SNOMEDCT_US:38599001|UMLS:C0154822 hp.json Serous retinal detachment http://purl.obolibrary.org/obo/HP_0012231 HP:0012232 biolink:PhenotypicFeature Shortened QT interval Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). UMLS:C0151879|SNOMEDCT_US:77867006 hp.json http://purl.obolibrary.org/obo/HP_0012232 GO:0003105 biolink:NamedThing negative regulation of glomerular filtration hp.json http://purl.obolibrary.org/obo/GO_0003105 HP:0012233 biolink:PhenotypicFeature Intramuscular hematoma Blood clot formed within muscle tissue following leakage of blood into the tissue. SNOMEDCT_US:262969000|UMLS:C0240412 hp.json Intramuscular haematoma|Intramuscular hematomas|Intramuscular hemorrhage|IM hematoma|Intramuscular haemorrhage http://purl.obolibrary.org/obo/HP_0012233 HP:0012234 biolink:PhenotypicFeature Agranulocytosis Marked decrease in the number of granulocytes. UMLS:C0702094 hp.json http://purl.obolibrary.org/obo/HP_0012234 GO:0005765 biolink:CellularComponent lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. hp.json lysosome membrane http://purl.obolibrary.org/obo/GO_0005765 HP:0012235 biolink:PhenotypicFeature Drug-induced agranulocytosis A type of agranulocytosis related to ingestion of a specific medication. UMLS:C0272178|SNOMEDCT_US:47318007 hp.json http://purl.obolibrary.org/obo/HP_0012235 HP:0012236 biolink:PhenotypicFeature Elevated sweat chloride An increased concentration of chloride in the sweat. UMLS:C1856646 hp.json Elevated sweat chloride|Elevated sweat Cl-|Elevated sweat Cl http://purl.obolibrary.org/obo/HP_0012236 GO:0005766 biolink:CellularComponent primary lysosome A lysosome before it has fused with a vesicle or vacuole. NIF_Subcellular:sao1140587416 hp.json http://purl.obolibrary.org/obo/GO_0005766 HP:0012237 biolink:PhenotypicFeature Urocanic aciduria An increased concentration of urocanic acid in the urine. UMLS:C0268514|MSH:C536479|SNOMEDCT_US:60952007 hp.json High urine urocanic acid levels http://purl.obolibrary.org/obo/HP_0012237 GO:0003104 biolink:NamedThing positive regulation of glomerular filtration hp.json http://purl.obolibrary.org/obo/GO_0003104 HP:0012238 biolink:PhenotypicFeature Increased circulating chylomicron concentration Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. UMLS:C1535978 hp.json Increased chylomicrons|Increased circulating chylomicron levels|Hyperchylomicronemia http://purl.obolibrary.org/obo/HP_0012238 GO:0005764 biolink:CellularComponent lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. NIF_Subcellular:sao585356902|Wikipedia:Lysosome hp.json http://purl.obolibrary.org/obo/GO_0005764 goslim_plant|goslim_chembl|goslim_generic CHEBI:42485 biolink:ChemicalSubstance formyl group PDBeChem:FOR hp.json methanoyl|formyl|Fo|-CH(O)|aldehyde group|FORMYL GROUP|-CHO|carbaldehyde|H-CO- http://purl.obolibrary.org/obo/CHEBI_42485 3_STAR GO:0030705 biolink:BiologicalProcess cytoskeleton-dependent intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. hp.json http://purl.obolibrary.org/obo/GO_0030705 goslim_drosophila|goslim_chembl HP:0012230 biolink:PhenotypicFeature Rhegmatogenous retinal detachment A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. SNOMEDCT_US:19620000|UMLS:C0271055 hp.json http://purl.obolibrary.org/obo/HP_0012230 HP:0000264 biolink:PhenotypicFeature Abnormality of the mastoid An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. UMLS:C4025872 hp.json Abnormality of mastoid process of temporal bone http://purl.obolibrary.org/obo/HP_0000264 hposlim_core HP:0000263 biolink:PhenotypicFeature Oxycephaly Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. MSH:D003398 hp.json Acrocephaly http://purl.obolibrary.org/obo/HP_0000263 HP:0000265 biolink:PhenotypicFeature Mastoiditis UMLS:C0024904|MSH:D008417|SNOMEDCT_US:52404001 hp.json http://purl.obolibrary.org/obo/HP_0000265 HP:0000268 biolink:PhenotypicFeature Dolichocephaly An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. SNOMEDCT_US:72239002|UMLS:C4280656|UMLS:C4280655|UMLS:C4280654|UMLS:C4280653|UMLS:C0221358 hp.json Narrow skull shape|Narrow head shape|Narrow cranium shape|Turridolichocephaly|Long, narrow head|Large dolichocephalic skull|Tall and narrow skull http://purl.obolibrary.org/obo/HP_0000268 hposlim_core HP:0000267 biolink:PhenotypicFeature Cranial asymmetry Asymmetry of the bones of the skull. UMLS:C1860245|UMLS:C4280657|UMLS:C4280258|UMLS:C4280662|UMLS:C4280661|UMLS:C4280660|UMLS:C4280659|UMLS:C4280658 hp.json Abnormality of cranium shape|Uneven head shape|Malformation of cranium shape|Asymmetry of cranium|Malformation of head shape|Asymmetry of head|Abnormality of head shape|Abnormality of cranial vault shape|Cranial vault asymmetry|Malformation of cranial vault shape http://purl.obolibrary.org/obo/HP_0000267 HP:0000269 biolink:PhenotypicFeature Prominent occiput Increased convexity of the occiput (posterior part of the skull). UMLS:C4280652|UMLS:C1853737 hp.json Prominent back of the skull|Prominent posterior skull|Prominent posterior head|Protruding occiput|Prominent back of the head|Protruding back of the head|Prominent posterior cranium http://purl.obolibrary.org/obo/HP_0000269 hposlim_core HP:0012239 biolink:PhenotypicFeature Atransferrinemia Absence of transferrin, a protein that transports iron, in the blood. UMLS:C0521802|MSH:C538259|SNOMEDCT_US:111571009 hp.json http://purl.obolibrary.org/obo/HP_0012239 HP:0000260 biolink:PhenotypicFeature Wide anterior fontanel Enlargement of the anterior fontanelle with respect to age-dependent norms. UMLS:C1866134 hp.json Wider-than-typical soft spot of skull|Large anterior fontanels|Wide anterior fontanelle|Large anterior fontanel|Large open anterior fontanelle|Large anterior fontanelle|Wide open anterior fontanelle|Large open anterior fontanel http://purl.obolibrary.org/obo/HP_0000260 HP:0000262 biolink:PhenotypicFeature Turricephaly Tall head relative to width and length. SNOMEDCT_US:48069004|MSH:D003398|UMLS:C0030044 hp.json Tower cranium shape|Tall shaped head|Tall shaped cranium|Tower skull shape|Turricephalus|Tall shaped skull http://purl.obolibrary.org/obo/HP_0000262 hposlim_core GO:1904037 biolink:BiologicalProcess positive regulation of epithelial cell apoptotic process Any process that activates or increases the frequency, rate or extent of epithelial cell apoptotic process. hp.json upregulation of epithelial cell apoptotic process|upregulation of epitheliocyte apoptotic process|up-regulation of epithelial cell apoptosis|up-regulation of epitheliocyte apoptosis|up regulation of epithelial cell apoptosis|up regulation of epitheliocyte apoptosis|positive regulation of epithelial cell apoptosis|positive regulation of epitheliocyte apoptosis|up-regulation of epithelial cell apoptotic process|up-regulation of epitheliocyte apoptotic process|upregulation of epithelial cell apoptosis|up regulation of epithelial cell apoptotic process|activation of epithelial cell apoptotic process|upregulation of epitheliocyte apoptosis|up regulation of epitheliocyte apoptotic process|activation of epithelial cell apoptosis|activation of epitheliocyte apoptotic process|activation of epitheliocyte apoptosis|positive regulation of epitheliocyte apoptotic process http://purl.obolibrary.org/obo/GO_1904037 GO:1904036 biolink:BiologicalProcess negative regulation of epithelial cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of epithelial cell apoptotic process. hp.json down regulation of epitheliocyte apoptosis|down-regulation of epithelial cell apoptotic process|down-regulation of epitheliocyte apoptotic process|negative regulation of epitheliocyte apoptotic process|downregulation of epithelial cell apoptosis|downregulation of epitheliocyte apoptosis|down regulation of epithelial cell apoptotic process|down regulation of epitheliocyte apoptotic process|inhibition of epithelial cell apoptosis|downregulation of epithelial cell apoptotic process|inhibition of epithelial cell apoptotic process|downregulation of epitheliocyte apoptotic process|inhibition of epitheliocyte apoptosis|inhibition of epitheliocyte apoptotic process|down-regulation of epithelial cell apoptosis|negative regulation of epithelial cell apoptosis|negative regulation of epitheliocyte apoptosis|down-regulation of epitheliocyte apoptosis|down regulation of epithelial cell apoptosis http://purl.obolibrary.org/obo/GO_1904036 GO:1904064 biolink:BiologicalProcess positive regulation of cation transmembrane transport Any process that activates or increases the frequency, rate or extent of cation transmembrane transport. hp.json upregulation of cation transmembrane transport|up regulation of cation transmembrane transport|activation of cation transmembrane transport|up-regulation of cation transmembrane transport http://purl.obolibrary.org/obo/GO_1904064 GO:1904063 biolink:BiologicalProcess negative regulation of cation transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of cation transmembrane transport. hp.json inhibition of cation transmembrane transport|down-regulation of cation transmembrane transport|downregulation of cation transmembrane transport|down regulation of cation transmembrane transport http://purl.obolibrary.org/obo/GO_1904063 GO:1904062 biolink:BiologicalProcess regulation of cation transmembrane transport Any process that modulates the frequency, rate or extent of cation transmembrane transport. hp.json http://purl.obolibrary.org/obo/GO_1904062 UBERON:0019293 biolink:AnatomicalEntity white matter of pontine tegmentum FMA:83942|HBA:265505486|BIRNLEX:1069 hp.json white matter of pontile tegmentum|white substance of pontile tegmentum|pontine white matter tracts|substantia alba tegmenti pontis|predominantly white regional part of pontine tegmentum http://purl.obolibrary.org/obo/UBERON_0019293 UBERON:0019294 biolink:AnatomicalEntity commissure of telencephalon HBA:9220 hp.json telencephalic commissures http://purl.obolibrary.org/obo/UBERON_0019294 UBERON:0019291 biolink:AnatomicalEntity white matter of metencephalon HBA:9287|FMA:83939 hp.json http://purl.obolibrary.org/obo/UBERON_0019291 UBERON:0019292 biolink:AnatomicalEntity white matter of pons FMA:83940 hp.json http://purl.obolibrary.org/obo/UBERON_0019292 GO:1904075 biolink:BiologicalProcess positive regulation of trophectodermal cell proliferation Any process that activates or increases the frequency, rate or extent of trophectodermal cell proliferation. hp.json activation of trophectoderm cell proliferation|upregulation of trophectodermal cell proliferation|upregulation of trophectoderm cell proliferation|up regulation of trophectodermal cell proliferation|positive regulation of trophectoderm cell proliferation|up-regulation of trophectodermal cell proliferation|activation of trophectodermal cell proliferation|up regulation of trophectoderm cell proliferation|up-regulation of trophectoderm cell proliferation http://purl.obolibrary.org/obo/GO_1904075 GO:1904074 biolink:BiologicalProcess negative regulation of trophectodermal cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of trophectodermal cell proliferation. hp.json down-regulation of trophectodermal cell proliferation|down regulation of trophectoderm cell proliferation|inhibition of trophectoderm cell proliferation|down-regulation of trophectoderm cell proliferation|negative regulation of trophectoderm cell proliferation|downregulation of trophectodermal cell proliferation|down regulation of trophectodermal cell proliferation|inhibition of trophectodermal cell proliferation|downregulation of trophectoderm cell proliferation http://purl.obolibrary.org/obo/GO_1904074 GO:1904073 biolink:BiologicalProcess regulation of trophectodermal cell proliferation Any process that modulates the frequency, rate or extent of trophectodermal cell proliferation. hp.json regulation of trophectoderm cell proliferation http://purl.obolibrary.org/obo/GO_1904073 HP:0002616 biolink:PhenotypicFeature Aortic root aneurysm An abnormal localized widening (dilatation) of the aortic root. UMLS:C0238669|SNOMEDCT_US:251036003 hp.json Increased aortic root diameter|Bulge in wall of root of large artery that carries blood away from heart|Aortic root dilatation http://purl.obolibrary.org/obo/HP_0002616 HP:0002617 biolink:PhenotypicFeature Vascular dilatation Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. SNOMEDCT_US:85659009|MSH:D000783|UMLS:C0002940|UMLS:C4020848|SNOMEDCT_US:432119003|Fyler:2399 hp.json Aneurysms|Aneurysmal dilatation|Aneurysm|Wider than typical opening or gap|Aneurysmal disease http://purl.obolibrary.org/obo/HP_0002617 HP:0002614 biolink:PhenotypicFeature Hepatic periportal necrosis A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. UMLS:C0546389 hp.json http://purl.obolibrary.org/obo/HP_0002614 HP:0002615 biolink:PhenotypicFeature Hypotension Low Blood Pressure, vascular hypotension. SNOMEDCT_US:45007003|MSH:D007022|UMLS:C0020649 hp.json Low blood pressure|Arterial hypotension http://purl.obolibrary.org/obo/HP_0002615 HP:0002619 biolink:PhenotypicFeature Varicose veins Enlarged and tortuous veins. MSH:D014648|SNOMEDCT_US:12856003|SNOMEDCT_US:128060009|UMLS:C0042345|SNOMEDCT_US:399989005 hp.json http://purl.obolibrary.org/obo/HP_0002619 HP:0002612 biolink:PhenotypicFeature Congenital hepatic fibrosis The presence of fibrosis of that part of the liver with congenital onset. MSH:C562378|SNOMEDCT_US:79607001|UMLS:C0009714 hp.json Excessive buildup of connective tissue and scarring of liver at birth|Congenital liver fibrosis http://purl.obolibrary.org/obo/HP_0002612 HP:0002613 biolink:PhenotypicFeature Biliary cirrhosis Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. SNOMEDCT_US:1761006|SNOMEDCT_US:31712002|MSH:D008105|UMLS:C0023892|UMLS:C0008312 hp.json Primary biliary cirrhosis http://purl.obolibrary.org/obo/HP_0002613 HP:0002611 biolink:PhenotypicFeature Cholestatic liver disease UMLS:C0860204 hp.json http://purl.obolibrary.org/obo/HP_0002611 HP:0002627 biolink:PhenotypicFeature Right aortic arch with mirror image branching The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. UMLS:C4025695 hp.json http://purl.obolibrary.org/obo/HP_0002627 HP:0002625 biolink:PhenotypicFeature Deep venous thrombosis Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. SNOMEDCT_US:128053003|UMLS:C0149871|MSH:D020246 hp.json Multiple deep venous thrombosis|Blood clot in a deep vein|Deep vein thrombosis http://purl.obolibrary.org/obo/HP_0002625 HP:0002626 biolink:PhenotypicFeature Venous varicosities of celiac and mesenteric vessels Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. UMLS:C1857692 hp.json Venous varicosities of coeliac and mesenteric vessels http://purl.obolibrary.org/obo/HP_0002626 HP:0002629 biolink:PhenotypicFeature Gastrointestinal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract. UMLS:C0744321 hp.json GI arteriovenous malformation http://purl.obolibrary.org/obo/HP_0002629 GO:1904099 biolink:BiologicalProcess negative regulation of protein O-linked glycosylation Any process that stops, prevents or reduces the frequency, rate or extent of protein O-linked glycosylation. hp.json inhibition of protein O-linked glycosylation|down-regulation of protein O-linked glycosylation|negative regulation of protein amino acid O-linked glycosylation|down-regulation of protein amino acid O-linked glycosylation|down regulation of protein amino acid O-linked glycosylation|downregulation of protein O-linked glycosylation|downregulation of protein amino acid O-linked glycosylation|inhibition of protein amino acid O-linked glycosylation|down regulation of protein O-linked glycosylation http://purl.obolibrary.org/obo/GO_1904099 GO:1904098 biolink:BiologicalProcess regulation of protein O-linked glycosylation Any process that modulates the frequency, rate or extent of protein O-linked glycosylation. hp.json regulation of protein amino acid O-linked glycosylation http://purl.obolibrary.org/obo/GO_1904098 HP:0002623 biolink:PhenotypicFeature Overriding aorta An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. SNOMEDCT_US:63934006|UMLS:C0265886|UMLS:C0011818|Fyler:1432 hp.json Overriding aortic valve|Dextroposition of aorta http://purl.obolibrary.org/obo/HP_0002623 HP:0002624 biolink:PhenotypicFeature Abnormal venous morphology An anomaly of vein. UMLS:C0241665 hp.json Abnormal vein|Venous abnormality http://purl.obolibrary.org/obo/HP_0002624 HP:0002621 biolink:PhenotypicFeature Atherosclerosis A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. UMLS:C4280569|SNOMEDCT_US:38716007|UMLS:C0004153|MSH:D050197 hp.json Plaque build-up in arteries|Atherosclerotic cardiovascular disease|Narrowing and hardening of arteries http://purl.obolibrary.org/obo/HP_0002621 HP:0002622 biolink:PhenotypicFeature obsolete Dissecting aortic dilatation hp.json http://purl.obolibrary.org/obo/HP_0002622 GO:0003298 biolink:BiologicalProcess physiological muscle hypertrophy The enlargement or overgrowth of all or part of a muscle organ or tissue due to an increase in the size of its muscle cells. Physiological hypertrophy is a normal process during development. hp.json http://purl.obolibrary.org/obo/GO_0003298 GO:0003292 biolink:BiologicalProcess cardiac septum cell differentiation The process in which an endocardial cushion cell becomes a cell of a cardiac septum. hp.json http://purl.obolibrary.org/obo/GO_0003292 HP:0002605 biolink:PhenotypicFeature Hepatic necrosis The presence of cell death (necrosis) affecting the liver. UMLS:C0151798|SNOMEDCT_US:87248009 hp.json http://purl.obolibrary.org/obo/HP_0002605 HP:0002604 biolink:PhenotypicFeature Gastrointestinal telangiectasia Telangiectasia affecting the gastrointestinal tract. UMLS:C1619711 hp.json Small, enlarged blood vessels near skin|GI telangiectasia http://purl.obolibrary.org/obo/HP_0002604 HGNC:3686 biolink:Gene FGF8 (human) A protein coding gene FGF8 in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3686 HP:0002607 biolink:PhenotypicFeature Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained. SNOMEDCT_US:72042002|UMLS:C0015732|MSH:D005242 hp.json Faecal incontinence|Anal incontinence|Loss of bowel control|Fecal incontinence http://purl.obolibrary.org/obo/HP_0002607 HP:0002608 biolink:PhenotypicFeature Celiac disease Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. MSH:D002446|UMLS:C0007570|SNOMEDCT_US:396331005 hp.json Celiac sprue|Coeliac disease|Celiac disease|Coeliac sprue http://purl.obolibrary.org/obo/HP_0002608 HP:0002601 biolink:PhenotypicFeature Paresis of extensor muscles of the big toe UMLS:C4025696 hp.json http://purl.obolibrary.org/obo/HP_0002601 HP:0002600 biolink:PhenotypicFeature Hyporeflexia of lower limbs Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. UMLS:C1834696 hp.json Hyporeflexia in lower limbs|Hyporeflexia/areflexia in lower limbs|Hyporeflexia, lower limbs|Hyporeflexia of the lower limbs http://purl.obolibrary.org/obo/HP_0002600 UBERON:0019231 biolink:AnatomicalEntity manual digit 1 or 5 hp.json lateral finger|lateral manual digit|outer manual digit|outermost manual digit http://purl.obolibrary.org/obo/UBERON_0019231 UBERON:0019232 biolink:AnatomicalEntity manual digit 2, 3 or 4 hp.json mesoxaxial finger|medial manual digit|mesoaxial manual digit http://purl.obolibrary.org/obo/UBERON_0019232 pheno_slim UBERON:0034873 biolink:AnatomicalEntity bodily gas Any substance in the body or expelled from the body that is in a gaseous state. FMA:84580 hp.json portion of gas in anatomical space|gas in anatomical space http://purl.obolibrary.org/obo/UBERON_0034873 UBERON:0034874 biolink:AnatomicalEntity air in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of air. FMA:84581 hp.json respiratory air|respiratory system air http://purl.obolibrary.org/obo/UBERON_0034874 UBERON:0034875 biolink:AnatomicalEntity future pituitary gland EHDAA2:0001472|EMAPA:32796 hp.json pituitary primordium http://purl.obolibrary.org/obo/UBERON_0034875 UBERON:0007257 biolink:AnatomicalEntity intervertebral disk of sacral vertebra An intervertebral disk that is part of a sacral region of vertebral column. A sacral intervertebral disk connects at least one sacral vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra. FMA:268676|EMAPA:19575 hp.json intervertebral disc of sacral region http://purl.obolibrary.org/obo/UBERON_0007257 UBERON:0010899 biolink:AnatomicalEntity synchronous hermaphroditic organism Hermaphroditic organism that produces both male and female gametes at the same time. BILA:0000046|CARO:0000046|TADS:0000609|HAO:0000046|AAO:0010046 hp.json simultaneous hermaphroditic organism|serially hermaphroditic organism http://purl.obolibrary.org/obo/UBERON_0010899 UBERON:0007255 biolink:AnatomicalEntity intervertebral disk of lumbar vertebra An intervertebral disk that is part of a lumbar region of vertebral column. A lumbar intervertebral disk connects at least one lumbar vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra. FMA:13894|EMAPA:19468 hp.json intervertebral disc of lumbar region http://purl.obolibrary.org/obo/UBERON_0007255 UBERON:0007254 biolink:AnatomicalEntity intervertebral disk of thoracic vertebra An intervertebral disk that is part of a thoracic region of vertebral column. A thoracic intervertebral disk connects at least one thoracic vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a lumbar vertebra. FMA:10455|EMAPA:19489 hp.json intervertebral disc of thoracic region http://purl.obolibrary.org/obo/UBERON_0007254 GO:0042886 biolink:BiologicalProcess amide transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0042886 goslim_pir UBERON:0007252 biolink:AnatomicalEntity intervertebral disk of cervical vertebra An intervertebral disk that is part of a cervical region of vertebral column. A cervical intervertebral disk connects at least one cervical vertebra, either to another cervical vertebra, or at one point on the vertebral colummn, to a thoracic vertebra. FMA:13895|EMAPA:19415 hp.json intervertebral disc of cervical region|cervical intervertebral disc http://purl.obolibrary.org/obo/UBERON_0007252 UBERON:0007250 biolink:AnatomicalEntity lingual tonsil The lymph tissue on the floor of the oropharyngeal passage, near the root of the tongue. UMLS:C0229871|NCIT:C32988|MA:0000773|FMA:54836 hp.json lingual tonsillar tissue|tonsilla lingualis http://purl.obolibrary.org/obo/UBERON_0007250 pheno_slim CHEBI:6495 biolink:ChemicalSubstance lipoprotein A clathrate complex consisting of a lipid enwrapped in a protein host without covalent binding in such a way that the complex has a hydrophilic outer surface consisting of all the protein and the polar ends of any phospholipids. KEGG:C01834 hp.json Lipoprotein|lipoprotein particle|lipoproteins http://purl.obolibrary.org/obo/CHEBI_6495 3_STAR PR:P02771 biolink:Protein alpha-fetoprotein (human) An alpha-fetoprotein that is encoded in the genome of human. UniProtKB:P02771 hp.json HPAFP|alpha-1-fetoprotein (human)|alpha-fetoglobulin (human)|AFP|hAFP http://purl.obolibrary.org/obo/PR_P02771 GO:0005902 biolink:NamedThing microvillus hp.json http://purl.obolibrary.org/obo/GO_0005902 UBERON:0019222 biolink:AnatomicalEntity digit 2, 3 or 4 Any of the three medial digits in a five-digit autopod, or their phylogenetic equivalent. hp.json mesoaxial digit|medial digit http://purl.obolibrary.org/obo/UBERON_0019222 pheno_slim UBERON:0019221 biolink:AnatomicalEntity digit 1 or 5 Either of the outermost digits in a five-digit autopod, or their phylogenetic equivalent. hp.json outermost digit|outer digit|lateral digit http://purl.obolibrary.org/obo/UBERON_0019221 CHEBI:30413 biolink:ChemicalSubstance heme A heme is any tetrapyrrolic chelate of iron. KEGG:C00032|COMe:MOL000025|DrugBank:DB03014 hp.json heme|hemos|haeme|haem|hem|Haem|haem|hemes|heme|heme http://purl.obolibrary.org/obo/CHEBI_30413 3_STAR PR:P02768 biolink:Protein albumin (human) An albumin that is encoded in the genome of human. UniProtKB:P02768 hp.json PRO2675|hALB|serum albumin (human)|PRO2044|PRO1708|PRO2619|PRO0903|UNQ696/PRO1341|ALB|GIG42|GIG20 http://purl.obolibrary.org/obo/PR_P02768 UBERON:0010890 biolink:AnatomicalEntity pelvic complex muscle Muscles of the pelvic girdle, hindlimb or pelvic fin. AAO:0000218|FMA:9622|MA:0000663|EMAPA:32634 hp.json pelvic girdle or hind limb muscle|pelvic girdle and hind limb muscles|pelvic girdle or posterior limb muscle|lower limb muscle|muscle of pelvic girdle and leg|pelvic girdle or posterior limb muscle|muscle of lower limb|pelvic girdle or hind limb muscle http://purl.obolibrary.org/obo/UBERON_0010890 pheno_slim UBERON:0010891 biolink:AnatomicalEntity pectoral complex muscle A muscle of a pectoral girdle, pectoral fin or anterior limb. FMA:9621|AAO:0010687|EMAPA:32624|MA:0000615 hp.json pectoral girdle and fore limb muscles|muscle of upper limb|muscle of pectoral girdle and wing|muscle of pectoral girdle and limb|upper limb muscle http://purl.obolibrary.org/obo/UBERON_0010891 UBERON:0010894 biolink:AnatomicalEntity keratinous tooth hp.json horny denticle http://purl.obolibrary.org/obo/UBERON_0010894 cyclostome_subset UBERON:0010893 biolink:AnatomicalEntity median external naris Am unpaired external naris that lies in the midline of the head. hp.json nasohypophysial opening|median nostril|median anterior naris http://purl.obolibrary.org/obo/UBERON_0010893 cyclostome_subset UBERON:0034876 biolink:AnatomicalEntity future neurohypophysis The outgrowth of neuroectoderm located on the floor of the embryonic hypothalamus that gives rise to the neurohypophysis (posterior lobe) of the pituitary gland. EMAPA:16647|EHDAA2:0004434 hp.json neurohypophyseal bud|neurohypohysial region http://purl.obolibrary.org/obo/UBERON_0034876 UBERON:0010887 biolink:AnatomicalEntity tragus A small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus. NCIT:C33801|FMA:60998|UMLS:C0229312 hp.json tragal part of pinna http://purl.obolibrary.org/obo/UBERON_0010887 pheno_slim UBERON:0007245 biolink:AnatomicalEntity nuclear complex of neuraxis Gray matter of the central nervous system which is a collection of clustered nuclei. FMA:256381|FMA:84059 hp.json nuclear complex|neural nuclei|cluster of neural nuclei http://purl.obolibrary.org/obo/UBERON_0007245 UBERON:0010885 biolink:AnatomicalEntity hindlimb cartilage element A cartilaginous condensation that has the potential to develop into a hindlimb bone. EMAPA:32632 hp.json hindlimb cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010885 UBERON:0034878 biolink:AnatomicalEntity prechordal mesoderm The area of axial mesoderm that develops into the prechordal plate. hp.json prechordal mesenchyme http://purl.obolibrary.org/obo/UBERON_0034878 CHEBI:17418 biolink:ChemicalSubstance valeric acid A straight-chain saturated fatty acid containing five carbon atoms. LIPID_MAPS_instance:LMFA01010005|KEGG:C00803|Wikipedia:Valeric_acid|HMDB:HMDB0000892|PPDB:3130|PDBeChem:LEA|CAS:109-52-4|PMID:20507156|Gmelin:26714|CAS:109-52-4|DrugBank:DB02406|Beilstein:969454|CAS:109-52-4|KNApSAcK:C00001208|Reaxys:969454 hp.json Pentanoic acid|Valerianic acid|Pentanoate|Valeric acid|n-Pentanoate|propylacetic acid|n-pentanoic acid|pentoic acid|PENTANOIC ACID|1-butanecarboxylic acid|pentanoic acid|CH3-[CH2]3-COOH|1-butanecarboxylic acid|Valerate|n-Valeric acid|Valeriansaeure|n-valeric acid|n-BuCOOH|valeric acid, normal http://purl.obolibrary.org/obo/CHEBI_17418 3_STAR UBERON:0010886 biolink:AnatomicalEntity hindlimb pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a hindlimb bone. EMAPA:32638 hp.json hindlimb pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010886 UBERON:0007243 biolink:AnatomicalEntity tunica media of vein A tunica media that is part of a vein. EMAPA:36309|EV:0100033|SCTID:42049001|FMA:14354 hp.json tunica media (venae)|venous media http://purl.obolibrary.org/obo/UBERON_0007243 UBERON:0007242 biolink:AnatomicalEntity tunica intima of vein A tunica intima that is part of a vein. SCTID:2436009|EMAPA:36308|EV:0100032|FMA:14353 hp.json tunica interna (intima)(venae)|venous intima http://purl.obolibrary.org/obo/UBERON_0007242 UBERON:0007241 biolink:AnatomicalEntity tunica adventitia of vein A tunica adventitia that is part of a vein. EV:0100034|FMA:14355|SCTID:13202006|EMAPA:36310 hp.json venous adventitia|tunica externa (adventitia)(venae) http://purl.obolibrary.org/obo/UBERON_0007241 UBERON:0007240 biolink:AnatomicalEntity tunica adventitia of artery A tunica adventitia that is part of a artery. EV:0100030|FMA:14274|SCTID:113261001|EMAPA:36295 hp.json arterial adventitia|tunica externa (adventitia)(arteriae) http://purl.obolibrary.org/obo/UBERON_0007240 CHEBI:30411 biolink:ChemicalSubstance cobalamin A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. PMID:15181872|COMe:MOL000036|PDBeChem:B12|PMID:11371572 hp.json cobalamin|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide|COBALAMIN http://purl.obolibrary.org/obo/CHEBI_30411 3_STAR UBERON:0007247 biolink:AnatomicalEntity nucleus of superior olivary complex Any of the nuclei that comprise the superior olivary complex (superior olive). This includes both the primary nuclei such as the lateral and medial nuclei, as well as periolivary nuclei. FMA:72246|SCTID:369024009 hp.json superior olivary complex nucleus http://purl.obolibrary.org/obo/UBERON_0007247 grouping_class|pheno_slim UBERON:0019210 biolink:AnatomicalEntity pole of lens A central point or region on the anterior or posterior surface of the lens. FMA:58067 hp.json lens pole|zone of lens|lens zone http://purl.obolibrary.org/obo/UBERON_0019210 UBERON:0010883 biolink:AnatomicalEntity forelimb cartilage element A cartilaginous condensation that has the potential to develop into a forelimb bone. EMAPA:32626 hp.json wing cartilaginous condensation|forelimb wing cartilaginous condensation http://purl.obolibrary.org/obo/UBERON_0010883 grouping_class UBERON:0010884 biolink:AnatomicalEntity forelimb bone pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a forelimb bone. EMAPA:32625 hp.json wing bone pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010884 grouping_class UBERON:0010881 biolink:AnatomicalEntity limb cartilage element A skeletal element that is part of a limb and composed of cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0010881 UBERON:0010882 biolink:AnatomicalEntity limb bone pre-cartilage condensation A skeletal element that is part of a limb and composed of pre-cartilage tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0010882 UBERON:0010879 biolink:AnatomicalEntity tusk A calcareous tooth that is elongated and protrudes from the mouth. hp.json http://purl.obolibrary.org/obo/UBERON_0010879 UBERON:0009891 biolink:AnatomicalEntity facial mesenchyme Mesenchyme that is part of a developing face. EMAPA:35337|FMA:302884 hp.json face mesenchyme|mesenchyme of face http://purl.obolibrary.org/obo/UBERON_0009891 UBERON:0007239 biolink:AnatomicalEntity tunica media of artery A tunica media that is part of a artery. EV:0100029|FMA:14273|UMLS:C1710627|EMAPA:36294|SCTID:84300001|NCIT:C49321 hp.json arterial media|tunica media (arteriae) http://purl.obolibrary.org/obo/UBERON_0007239 UBERON:0007238 biolink:AnatomicalEntity 1st arch maxillary component EMAPA:16388|EHDAA2:0000038|EHDAA:595|VHOG:0000511 hp.json http://purl.obolibrary.org/obo/UBERON_0007238 UBERON:0007237 biolink:AnatomicalEntity 1st arch mandibular component EMAPA:16382|EHDAA:583|EHDAA2:0000031|VHOG:0000510 hp.json ventral visceral arch 1|ventral mandibular arch|ventral pharyngeal arch 1 http://purl.obolibrary.org/obo/UBERON_0007237 PR:P02788 biolink:Protein lactotransferrin (human) A lactotransferrin that is encoded in the genome of human. UniProtKB:P02788 hp.json talalactoferrin (human)|LTF|LF|hLTF|GIG12|lactoferrin (human)|growth-inhibiting protein 12 (human) http://purl.obolibrary.org/obo/PR_P02788 UBERON:0019200 biolink:AnatomicalEntity skin of anterior chest Zone of skin that is part of the anterior region of the chest. FMA:10461 hp.json skin of anterior part of thorax|ventral chest skin|skin of ventral chest|anterior chest skin http://purl.obolibrary.org/obo/UBERON_0019200 pheno_slim UBERON:0019206 biolink:AnatomicalEntity tongue papilla epithelium EMAPA:35869|MA:0003178 hp.json http://purl.obolibrary.org/obo/UBERON_0019206 UBERON:0019207 biolink:AnatomicalEntity chorioretinal region The part of the eye that consists of both the retina and the optic choroid. SCTID:110701000 hp.json choroid and retina|retinachoroidal region|chorioretina|retinachoroid http://purl.obolibrary.org/obo/UBERON_0019207 pheno_slim UBERON:0019204 biolink:AnatomicalEntity skin epithelium Any region of epithelium that is part of a skin region. BTO:0004382 hp.json http://purl.obolibrary.org/obo/UBERON_0019204 CL:1000500 biolink:Cell kidney interstitial cell KUPO:0001013 hp.json http://purl.obolibrary.org/obo/CL_1000500 UBERON:0034898 biolink:AnatomicalEntity alveolar ridge of premaxilla The thickened ridge of bone that contains the tooth sockets on the premaxilla. AAO:0000397 hp.json pars dentalis of premaxilla http://purl.obolibrary.org/obo/UBERON_0034898 UBERON:0009887 biolink:AnatomicalEntity interlobar vein The interlobar veins are veins of the renal circulation which drain the renal lobes. FMA:71631 hp.json interlobar vein of kidney|interlobar veins of kidney|venae interlobares renis|set of interlobar veins of kidney|venae interlobares renis http://purl.obolibrary.org/obo/UBERON_0009887 human_reference_atlas UBERON:0007223 biolink:AnatomicalEntity osseus cochlea The osseous cochlea is the bony foundation that forms the small shell arrangement for the cochlear nerve. EMAPA:35620|MA:0000239 hp.json http://purl.obolibrary.org/obo/UBERON_0007223 pheno_slim UBERON:0009889 biolink:AnatomicalEntity secondary heart field A specific region of the lateral mesoderm that will form the majority of the mesodermal component of the right ventricle, arterial pole (outflow tract) and venous pole (inflow tract). XAO:0004186 hp.json anterior/second heart field|second heart field|SHF|anterior heart field|anterior heart field http://purl.obolibrary.org/obo/UBERON_0009889 UBERON:0007220 biolink:AnatomicalEntity late embryonic stage An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. FBdv:00005333|FMA:63631|OGES:000023|MIAA:0000399|EV:0300011|MmusDv:0000031|EVM:2990031 hp.json embryo late growth stage|fetal stage|embryo late (growth) stage|embryo late stage|fetus|fetus stage http://purl.obolibrary.org/obo/UBERON_0007220 UBERON:0009880 biolink:AnatomicalEntity carpal skeleton Subdivision of skeleton that consists of the endochondral elements distal to the anterior limb/fin zeugopodial skeletal elements which constitute the proximal region of the anterior autopod skeleton[PHENOSCAPE:ad]. VHOG:0001161|FMA:71335|AAO:0000201|MA:0000040|XAO:0003207|VSAO:0005023 hp.json fore mesopodium|fore mesopodium skeleton|fore mesopodial skeleton|carpus|carpal bones|set of carpal bones|skeletal parts of fore mesopodium|skeleton of carpus|ossa carpi|ossa carpi|carpal bones set http://purl.obolibrary.org/obo/UBERON_0009880 UBERON:0009881 biolink:AnatomicalEntity anterior lateral plate mesoderm ZFA:0005041|TAO:0005041|EFO:0003704 hp.json ALPM http://purl.obolibrary.org/obo/UBERON_0009881 efo_slim UBERON:0009882 biolink:AnatomicalEntity anal column One of a number of vertical folds, produced by an infolding of the mucous membrane and some of the muscular tissue in the upper half of the lumen of the anal canal[WP]. SCTID:245444007|NCIT:C32067|Wikipedia:Anal_columns|FMA:15713|UMLS:C0227428 hp.json columnae anales|column of Morgagni http://purl.obolibrary.org/obo/UBERON_0009882 UBERON:0007228 biolink:AnatomicalEntity vestibular nucleus A cranial nucleus for the vestibular nerve. [WP,unvetted]. CALOHA:TS-2078|NCIT:C12821|FMA:54602|EMAPA:35923|MA:0001032|UMLS:C0042600|EV:0100254 hp.json vestibular nucleus of eighth cranial nerve|vestibular VIII nucleus|vestibular nucleus of acoustic nerve http://purl.obolibrary.org/obo/UBERON_0007228 human_reference_atlas UBERON:0009883 biolink:AnatomicalEntity medullary ray A renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla. FMA:74299|BTO:0001155|EMAPA:37906 hp.json Ferrein's pyramid|kidney medullary ray|renal medullary ray http://purl.obolibrary.org/obo/UBERON_0009883 pheno_slim|human_reference_atlas UBERON:0009885 biolink:AnatomicalEntity interlobar artery An artery that supplies a renal lobe. EMAPA:37091|FMA:71637 hp.json interlobar artery of kidney|set of interlobar arteries of kidney|arteriae interlobares renis|arteriae interlobares renis|interlobar arteries of kidney|renal interlobar artery|kidney interlobar artery http://purl.obolibrary.org/obo/UBERON_0009885 pheno_slim|human_reference_atlas GO:1904000 biolink:BiologicalProcess positive regulation of eating behavior Any process that activates or increases the frequency, rate or extent of eating behavior. hp.json up regulation of eating behaviour|activation of eating behavior|up-regulation of eating behaviour|activation of eating behaviour|upregulation of eating behavior|upregulation of eating behaviour|up-regulation of eating behavior|positive regulation of eating behaviour|up regulation of eating behavior http://purl.obolibrary.org/obo/GO_1904000 UBERON:0007299 biolink:AnatomicalEntity choroid plexus of tectal ventricle A choroid plexus that is part of a cerebral aqueduct. ZFA:0001445|TAO:0001445 hp.json choroid plexus tectal ventricle|choroid plexus tectal ventricles http://purl.obolibrary.org/obo/UBERON_0007299 UBERON:0007297 biolink:AnatomicalEntity presumptive pronephric mesoderm A presumptive structure that has the potential to develop into a pronephric mesoderm. TAO:0001070|EFO:0003619|ZFA:0001070 hp.json nephron primordium http://purl.obolibrary.org/obo/UBERON_0007297 efo_slim UBERON:0019269 biolink:AnatomicalEntity gray matter of diencephalon FMA:83912 hp.json http://purl.obolibrary.org/obo/UBERON_0019269 UBERON:0019267 biolink:AnatomicalEntity gray matter of midbrain DHBA:10649|FMA:83913 hp.json http://purl.obolibrary.org/obo/UBERON_0019267 human_reference_atlas UBERON:0019264 biolink:AnatomicalEntity gray matter of forebrain DHBA:10157|FMA:268608 hp.json http://purl.obolibrary.org/obo/UBERON_0019264 human_reference_atlas UBERON:0019262 biolink:AnatomicalEntity white matter of myelencephalon A white matter that is part of the myelencephalon. HBA:9298 hp.json myelencephalic white matter http://purl.obolibrary.org/obo/UBERON_0019262 UBERON:0019263 biolink:AnatomicalEntity gray matter of hindbrain FMA:268630|DHBA:10654 hp.json gray matter of the hindbrain http://purl.obolibrary.org/obo/UBERON_0019263 human_reference_atlas UBERON:0007282 biolink:AnatomicalEntity presumptive segmental plate A presumptive structure that has the potential to develop into a presomitic mesoderm. ZFA:0000053|TAO:0000053|EFO:0003421 hp.json presumptive segmental plates http://purl.obolibrary.org/obo/UBERON_0007282 efo_slim UBERON:0007281 biolink:AnatomicalEntity presumptive midbrain hindbrain boundary Embryonic structure that gives rise to the midbrain hindbrain boundary. ZFA:0001187|TAO:0001187|EFO:0003446|XAO:0004086 hp.json presumptive midbrain-hindbrain boundary|presumptive MHB|presumptive MHB http://purl.obolibrary.org/obo/UBERON_0007281 efo_slim UBERON:0007280 biolink:AnatomicalEntity presumptive endocardium A presumptive structure that has the potential to develop into a endocardium. TAO:0002233|ZFA:0001724 hp.json http://purl.obolibrary.org/obo/UBERON_0007280 UBERON:0007289 biolink:AnatomicalEntity presumptive rhombomere 1 A presumptive structure that has the potential to develop into a rhombomere 1. ZFA:0001207|TAO:0001207 hp.json http://purl.obolibrary.org/obo/UBERON_0007289 UBERON:0007288 biolink:AnatomicalEntity presumptive forebrain midbrain boundary A presumptive structure that has the potential to develop into a forebrain-midbrain boundary. EFO:0003463|ZFA:0001368|TAO:0001368 hp.json http://purl.obolibrary.org/obo/UBERON_0007288 efo_slim UBERON:0007285 biolink:AnatomicalEntity presumptive paraxial mesoderm The part of the blastula that has the potential to develop into a paraxial mesoderm. XAO:0004134|ZFA:0000591|TAO:0000591|EFO:0003443 hp.json future paraxial mesenchyme|future paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0007285 efo_slim UBERON:0007284 biolink:AnatomicalEntity presumptive neural plate A presumptive structure that has the potential to develop into a neural plate. ZFA:0000063|EFO:0003424|TAO:0000063 hp.json prospective vegetal ectoderm|prospective neuroectoderm http://purl.obolibrary.org/obo/UBERON_0007284 efo_slim UBERON:0019261 biolink:AnatomicalEntity white matter of forebrain A white matter that is part of the forebrain. FMA:268634|DHBA:10557 hp.json http://purl.obolibrary.org/obo/UBERON_0019261 human_reference_atlas UBERON:0019258 biolink:AnatomicalEntity white matter of hindbrain A white matter that is part of the hindbrain. FMA:268636|DHBA:10668 hp.json http://purl.obolibrary.org/obo/UBERON_0019258 human_reference_atlas UBERON:0019255 biolink:AnatomicalEntity lower eyelash FMA:59409 hp.json lower eyelid cilium|lower eyelid cilia|eyelash of lower eyelid|hair of lower eyelid|lower eyelid eyelash http://purl.obolibrary.org/obo/UBERON_0019255 pheno_slim UBERON:0019253 biolink:AnatomicalEntity upper secondary incisor tooth FMA:55712 hp.json maxillary secondary incisor tooth|upper permanent incisor tooth|upper permanent incisor http://purl.obolibrary.org/obo/UBERON_0019253 UBERON:0019254 biolink:AnatomicalEntity upper eyelash FMA:59408 hp.json upper eyelid cilium|upper eyelid cilia|eyelash of upper eyelid|hair of upper eyelid|upper eyelid eyelash http://purl.obolibrary.org/obo/UBERON_0019254 pheno_slim UBERON:0007271 biolink:AnatomicalEntity appendage musculature Any collection of muscles that is part of an appendage. TAO:0000207|ZFA:0000207 hp.json fin musculature http://purl.obolibrary.org/obo/UBERON_0007271 UBERON:0007270 biolink:AnatomicalEntity pelvic appendage musculature Any collection of muscles that is part of a pelvic appendage. ZFA:0000258|TAO:0000258 hp.json pelvic fin musculature http://purl.obolibrary.org/obo/UBERON_0007270 GO:1904019 biolink:BiologicalProcess epithelial cell apoptotic process Any apoptotic process in an epithelial cell. hp.json epithelial cell apoptosis|epitheliocyte apoptosis|epitheliocyte apoptotic process http://purl.obolibrary.org/obo/GO_1904019 GO:1904018 biolink:BiologicalProcess positive regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. hp.json upregulation of vasculature development|up-regulation of vascular system development|up regulation of vascular system development|up-regulation of vasculature development|positive regulation of vascular system development|up regulation of vasculature development|activation of vasculature development|upregulation of vascular system development|activation of vascular system development http://purl.obolibrary.org/obo/GO_1904018 GO:1904015 biolink:BiologicalProcess cellular response to serotonin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin stimulus. hp.json http://purl.obolibrary.org/obo/GO_1904015 GO:1904014 biolink:BiologicalProcess response to serotonin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin stimulus. hp.json http://purl.obolibrary.org/obo/GO_1904014 UBERON:0007279 biolink:AnatomicalEntity presumptive atrioventricular canal A presumptive structure that has the potential to develop into a atrioventricular canal. ZFA:0001723|TAO:0002227 hp.json future atrioventricular canal|future AV canal http://purl.obolibrary.org/obo/UBERON_0007279 UBERON:0007278 biolink:AnatomicalEntity presumptive sinus venosus Portion of tissue that is part of the heart tube and will become the sinus venosus. ZFA:0001722|TAO:0002234 hp.json http://purl.obolibrary.org/obo/UBERON_0007278 UBERON:0007277 biolink:AnatomicalEntity presumptive hindbrain The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. FMA:295640|CALOHA:TS-2118|ZFA:0000569|EFO:0003440|TAO:0000569|BAMS:HB|EHDAA2:0001630|Wikipedia:Rhombencephalon hp.json future hindbrain|presumptive rhombencephalon|future hindbrain|rhombencephalon|embryonic rhombencephalon http://purl.obolibrary.org/obo/UBERON_0007277 efo_slim UBERON:0007273 biolink:AnatomicalEntity pelvic appendage skeleton The collection of all skeletal elements in a pelvic appendage region. hp.json http://purl.obolibrary.org/obo/UBERON_0007273 UBERON:0007272 biolink:AnatomicalEntity pectoral appendage skeleton Skeletal subdivision consisting of the anterior appendicular limb skeleton, excluding the pectoral girdle. VSAO:0005000 hp.json cheiropterygium http://purl.obolibrary.org/obo/UBERON_0007272 UBERON:0019246 biolink:AnatomicalEntity palmar skin crease hp.json skin crease of palmar part of manus http://purl.obolibrary.org/obo/UBERON_0019246 pheno_slim UBERON:0019247 biolink:AnatomicalEntity plantar skin crease hp.json skin crease of plantar part of pes http://purl.obolibrary.org/obo/UBERON_0019247 UBERON:0019242 biolink:AnatomicalEntity pedal digit 2, 3 or 4 hp.json mesoaxial pedal digit|medial pedal digit|mesoxaxial ftoe http://purl.obolibrary.org/obo/UBERON_0019242 pheno_slim UBERON:0019243 biolink:AnatomicalEntity skin crease hp.json skin groove http://purl.obolibrary.org/obo/UBERON_0019243 UBERON:0019241 biolink:AnatomicalEntity pedal digit 1 or 5 hp.json lateral pedal digit|outermost pedal digit|outer pedal digit|lateral toe http://purl.obolibrary.org/obo/UBERON_0019241 UBERON:0007260 biolink:AnatomicalEntity intervertebral disk of third cervical vertebra An intervertebral disk that connects a mammalian cervical vertebra 3 and connects a mammalian cervical vertebra 4. FMA:13896|EMAPA:19422 hp.json intervertebral disk, C3-C4|C3 intervertebral disk http://purl.obolibrary.org/obo/UBERON_0007260 GO:1904028 biolink:BiologicalProcess positive regulation of collagen fibril organization Any process that activates or increases the frequency, rate or extent of collagen fibril organization. hp.json upregulation of collagen fibril organisation|up-regulation of collagen fibril organization|activation of collagen fibril organization|up-regulation of fibrillar collagen organization|positive regulation of collagen fibril organisation|up regulation of fibrillar collagen organization|up regulation of collagen fibril organisation|upregulation of collagen fibril organization|positive regulation of fibrillar collagen organization|activation of fibrillar collagen organization|up-regulation of collagen fibril organisation|activation of collagen fibril organisation|upregulation of fibrillar collagen organization|up regulation of collagen fibril organization http://purl.obolibrary.org/obo/GO_1904028 GO:1904027 biolink:BiologicalProcess negative regulation of collagen fibril organization Any process that stops, prevents or reduces the frequency, rate or extent of collagen fibril organization. hp.json inhibition of collagen fibril organisation|down regulation of fibrillar collagen organization|negative regulation of collagen fibril organisation|downregulation of collagen fibril organization|down-regulation of collagen fibril organisation|inhibition of fibrillar collagen organization|downregulation of fibrillar collagen organization|down regulation of collagen fibril organization|inhibition of collagen fibril organization|down-regulation of collagen fibril organization|downregulation of collagen fibril organisation|negative regulation of fibrillar collagen organization|down-regulation of fibrillar collagen organization|down regulation of collagen fibril organisation http://purl.obolibrary.org/obo/GO_1904027 GO:1904026 biolink:BiologicalProcess regulation of collagen fibril organization Any process that modulates the frequency, rate or extent of collagen fibril organization. hp.json regulation of fibrillar collagen organization|regulation of collagen fibrillogenesis|regulation of collagen fibril organisation http://purl.obolibrary.org/obo/GO_1904026 GO:1904035 biolink:BiologicalProcess regulation of epithelial cell apoptotic process Any process that modulates the frequency, rate or extent of epithelial cell apoptotic process. hp.json regulation of epithelial cell apoptosis|regulation of epitheliocyte apoptosis|regulation of epitheliocyte apoptotic process http://purl.obolibrary.org/obo/GO_1904035 UBERON:0007267 biolink:AnatomicalEntity trachea pre-cartilage rings A pre-cartilage condensation that is part of a trachea. EHDAA2:0002070|EHDAA:7082 hp.json http://purl.obolibrary.org/obo/UBERON_0007267 UBERON:0007266 biolink:AnatomicalEntity intervertebral disk of atlas An intervertebral disk that connects a vertebral bone 1 and connects a vertebral bone 2. EMAPA:19416 hp.json C1 intervertebral disk|intervertebral disc of cervical vertebra 1|intervertebral disc of first cervical vertebra|first cervical intervertebral disk|intervertebral disk of cervical vertebra 1|intervertebral disk, C1-C2|intervertebral disk of first cervical vertebra|C1 disk http://purl.obolibrary.org/obo/UBERON_0007266 UBERON:0007265 biolink:AnatomicalEntity intervertebral disk of axis An intervertebral disk that connects a vertebral bone 2 and connects a mammalian cervical vertebra 3. EMAPA:19419|FMA:25058 hp.json intervertebral disk of cervical vertebra 2|intervertebral disc of second cervical vertebra|second cervical intervertebral disk|intervertebral disk, C2-C3|C2 disk|intervertebral disk of second cervical vertebra|C2 intervertebral disk|intervertebral disc of cervical vertebra 2 http://purl.obolibrary.org/obo/UBERON_0007265 UBERON:0007264 biolink:AnatomicalEntity intervertebral disk of seventh cervical vertebra An intervertebral disk that connects a thoracic vertebra and connects a mammalian cervical vertebra 7. FMA:13900|EMAPA:19463 hp.json intervertebral disk, C7-T1 http://purl.obolibrary.org/obo/UBERON_0007264 UBERON:0007263 biolink:AnatomicalEntity intervertebral disk of sixth cervical vertebra An intervertebral disk that connects a mammalian cervical vertebra 6 and connects a mammalian cervical vertebra 7. FMA:13899|EMAPA:19460 hp.json intervertebral disk, C6-C7 http://purl.obolibrary.org/obo/UBERON_0007263 UBERON:0007262 biolink:AnatomicalEntity intervertebral disk of fifth cervical vertebra An intervertebral disk that connects a mammalian cervical vertebra 5 and connects a mammalian cervical vertebra 6. FMA:13898|EMAPA:19428 hp.json intervertebral disk, C5-C6|intervertebral disc of fifth cervical vertebra http://purl.obolibrary.org/obo/UBERON_0007262 UBERON:0007261 biolink:AnatomicalEntity intervertebral disk of fourth cervical vertebra An intervertebral disk that connects a mammalian cervical vertebra 4 and connects a mammalian cervical vertebra 5. FMA:13897|EMAPA:19425 hp.json intervertebral disc of fourth cervical vertebra|intervertebral disk, C4-C5 http://purl.obolibrary.org/obo/UBERON_0007261 UBERON:0007269 biolink:AnatomicalEntity pectoral appendage musculature Any collection of muscles that is part of a pectoral appendage. EFO:0003540|ZFA:0000563|TAO:0000563 hp.json pectoral fin musculature|pectoral fin muscle http://purl.obolibrary.org/obo/UBERON_0007269 efo_slim GO:0005856 biolink:CellularComponent cytoskeleton Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. Wikipedia:Cytoskeleton hp.json http://purl.obolibrary.org/obo/GO_0005856 goslim_drosophila|goslim_chembl|goslim_aspergillus|goslim_mouse|goslim_agr|goslim_yeast|goslim_generic|goslim_candida|goslim_pir|goslim_plant|goslim_flybase_ribbon UBERON:0009953 biolink:AnatomicalEntity post-embryonic organism A multicellular organism that existence_starts_with a post-embryonic stage. MA:0002405 hp.json postnatal mouse|postnatal organism|post-hatching organism|post-natal organism|TS28 mouse|post-natal organism|post-hatching organism http://purl.obolibrary.org/obo/UBERON_0009953 UBERON:0010932 biolink:AnatomicalEntity crico-arytenoid muscle Cricoarytenoid muscles are muscles that connect the cricoid cartilage and arytenoid cartilage. More specifically, it can refer to: Posterior cricoarytenoid muscle Lateral cricoarytenoid muscle. UMLS:C0448336|NCIT:C32398|EMAPA:37498|MA:0002283 hp.json cricoarytenoideus|cricoarytenoid muscle|cricoarytenoid|crico-arytenoid http://purl.obolibrary.org/obo/UBERON_0010932 non_informative|grouping_class UBERON:0009955 biolink:AnatomicalEntity neurogenic placode Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. ZFA:0001309|TAO:0001309|EFO:0003460|Wikipedia:Neurogenic_placodes|XAO:0004620 hp.json neurogenic placodes|placodae neurogenicae|placodae neurogenicae http://purl.obolibrary.org/obo/UBERON_0009955 efo_slim UBERON:0034901 biolink:AnatomicalEntity cervical sympathetic nerve trunk The cervical ganglia are paravertebral ganglia of the sympathetic nervous system. These emerging postganglionic nerves synapse with preganglionic nerves from the thoracic spinal cord. They consist of three paravertebral ganglia: superior cervical ganglion middle cervical ganglion inferior cervical ganglion. The inferior ganglion may be fused with the first thoracic ganglion to form a single structure, the stellate ganglion. Nerves emerging from cervical sympathetic ganglia contribute to the cardiac plexus, among other things. FMA:6261 hp.json cervical part of sympathetic trunk|cervical sympathetic trunk|cervical sympathetic chain http://purl.obolibrary.org/obo/UBERON_0034901 UBERON:0034902 biolink:AnatomicalEntity sacral sympathetic nerve trunk FMA:6264|EMAPA:37656|MA:0001164 hp.json sacral sympathetic chain|pelvic sympathetic nerve trunk|pelvic sympathetic trunk|sacral part of sympathetic trunk|sacral sympathetic trunk http://purl.obolibrary.org/obo/UBERON_0034902 UBERON:0010935 biolink:AnatomicalEntity tensor tympani pre-muscle condensation EHDAA2:0002002 hp.json http://purl.obolibrary.org/obo/UBERON_0010935 UBERON:0034903 biolink:AnatomicalEntity left atrium endocardium Endocardium that is part of the left atrium. FMA:7286|SCTID:190064008|VHOG:0001226 hp.json left atrium endocardial tissue|endocardium of left atrium|left atrial endocardium http://purl.obolibrary.org/obo/UBERON_0034903 UBERON:0009958 biolink:AnatomicalEntity bladder lumen An anatomical space that is enclosed by a urinary bladder. FMA:15924|EHDAA2:0004058|galen:UrinaryBladderCavity hp.json cavity of urinary bladder|urinary bladder lumen|lumen of urinary bladder|bladder cavity http://purl.obolibrary.org/obo/UBERON_0009958 UBERON:0010933 biolink:AnatomicalEntity orbicularis oris muscle The orbicularis oris is a superficial facial muscle with fibers that encircle the opening of the oral cavity that attaches to the maxilla, mandible, skin and modiolus, and that participates in oral/pharyngeal behaviors, and is innervated by the facial nerve (CN VII). FMA:46841|MFMO:0000058 hp.json orbicularis oris|incisivii labii superioris|incisivii labii inferioris|musculus orbicularis oris|orbicularis oris|nasolabialis muscle http://purl.obolibrary.org/obo/UBERON_0010933 UBERON:0034905 biolink:AnatomicalEntity gland lumen hp.json lumen of gland http://purl.obolibrary.org/obo/UBERON_0034905 UBERON:0034907 biolink:AnatomicalEntity pineal parenchyma Parenchymal tissue that forms the pineal gland. NCIT:C41834 hp.json http://purl.obolibrary.org/obo/UBERON_0034907 UBERON:0034908 biolink:AnatomicalEntity scapular muscle Any of the muscles that are responsible for moving the scapula. In humans these are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. hp.json http://purl.obolibrary.org/obo/UBERON_0034908 UBERON:0010938 biolink:AnatomicalEntity muscle belly FMA:9719 hp.json belly|venter|belly of muscle http://purl.obolibrary.org/obo/UBERON_0010938 UBERON:0034909 biolink:AnatomicalEntity intermaxillary suture A cranial suture in the midline of the skull that connects the left and right maxilla bones. FMA:52963 hp.json intermaxillary suture of skull http://purl.obolibrary.org/obo/UBERON_0034909 CHEBI:30363 biolink:ChemicalSubstance isobutane An alkane that is propane substituted by a methyl group at position 2. KEGG:D04623|PMID:24179026|CAS:75-28-5|Gmelin:1301|Wikipedia:Isobutane|Beilstein:1730720|Reaxys:1730720|CAS:75-28-5|PMID:24464945 hp.json R-600a|(CH3)2CH-CH3|E943b|isobutane|2-methylpropane http://purl.obolibrary.org/obo/CHEBI_30363 3_STAR CHEBI:17381 biolink:ChemicalSubstance porphobilinogen A dicarboxylic acid that is pyrole bearing aminomethyl, carboxymethyl and 2-carboxyethyl substituents at positions 2, 3 and 4 respectively. PMID:21383008|KNApSAcK:C00007339|PMID:22740490|Beilstein:220051|DrugBank:DB02272|PMID:22770225|PDBeChem:PBG|Reaxys:220051|PMID:21627493|HMDB:HMDB0000245|CAS:487-90-1|CAS:487-90-1|PMID:22279024|MetaCyc:PORPHOBILINOGEN|PMID:22974111|Wikipedia:Porphobilinogen|KEGG:C00931 hp.json 3-[5-(aminomethyl)-4-(carboxymethyl)-1H-pyrrol-3-yl]propanoic acid|Porphobilinogen http://purl.obolibrary.org/obo/CHEBI_17381 3_STAR GO:0003205 biolink:BiologicalProcess cardiac chamber development The progression of a cardiac chamber over time, from its formation to the mature structure. A cardiac chamber is an enclosed cavity within the heart. hp.json http://purl.obolibrary.org/obo/GO_0003205 GO:0003204 biolink:BiologicalProcess cardiac skeleton development The progression of the cardiac skeleton over time, from its formation to the mature structure. The cardiac skeleton is a specialized extracellular matrix that separates the atria from the ventricles and provides physical support for the heart. hp.json heart fibrous skeleton development http://purl.obolibrary.org/obo/GO_0003204 GO:0003207 biolink:BiologicalProcess cardiac chamber formation The developmental process pertaining to the initial formation of a cardiac chamber from unspecified parts. A cardiac chamber is an enclosed cavity within the heart. hp.json heart chamber formation http://purl.obolibrary.org/obo/GO_0003207 GO:0003206 biolink:BiologicalProcess cardiac chamber morphogenesis The process in which a cardiac chamber is generated and organized. A cardiac chamber is an enclosed cavity within the heart. hp.json heart chamber morphogenesis http://purl.obolibrary.org/obo/GO_0003206 GO:0003203 biolink:BiologicalProcess endocardial cushion morphogenesis The process in which the anatomical structure of the endocardial cushion is generated and organized. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. hp.json http://purl.obolibrary.org/obo/GO_0003203 UBERON:0010929 biolink:AnatomicalEntity stapedius pre-muscle condensation EHDAA2:0001909 hp.json http://purl.obolibrary.org/obo/UBERON_0010929 CHEBI:17376 biolink:ChemicalSubstance cystine A sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond. Wikipedia:Cystine|PMID:18608550|Reaxys:1728091|Beilstein:1728091|Gmelin:83347|PMID:24525030|PMID:24327171|KEGG:C01420|PMID:24525029|CAS:923-32-0|CAS:923-32-0 hp.json 3,3'-disulfanediylbis(2-aminopropanoic acid)|Dicysteine|3,3'-dithiobis(2-aminopropanoic acid)|Cystin|alpha-Diamino-beta-dithiolactic acid|cystine|Zystin|cistina|Cystine http://purl.obolibrary.org/obo/CHEBI_17376 3_STAR GO:0003209 biolink:BiologicalProcess cardiac atrium morphogenesis The process in which the cardiac atrium is generated and organized. A cardiac atrium receives blood from a vein and pumps it to a cardiac ventricle. hp.json http://purl.obolibrary.org/obo/GO_0003209 CHEBI:17375 biolink:ChemicalSubstance (2S)-2-hydroxy monocarboxylic acid A 2-hydroxy monocarboxylic acid in which the carbon at position 2 has (S)-configuration. hp.json (S)-2-Hydroxyalkanoic acid|(S)-2-Hydroxy acid|(S)-2-Hydroxycarboxylic acid|(S)-2-hydroxy acid|(S)-2-Hydroxymonocarboxylic acid|(2S)-2-hydroxy monocarboxylic acids http://purl.obolibrary.org/obo/CHEBI_17375 3_STAR GO:0003208 biolink:BiologicalProcess cardiac ventricle morphogenesis The process in which the cardiac ventricle is generated and organized. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart. hp.json http://purl.obolibrary.org/obo/GO_0003208 HP:0002597 biolink:PhenotypicFeature Abnormality of the vasculature An abnormality of the vasculature. UMLS:C0241657 hp.json Vascular abnormalities|Abnormality of the vasculature|Abnormality of blood vessels http://purl.obolibrary.org/obo/HP_0002597 UBERON:0034921 biolink:AnatomicalEntity multi organ part structure An multicellular anatomical structure that has subparts of multiple organs as a part. CARO:0020001 hp.json anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034921 HP:0002595 biolink:PhenotypicFeature Ileus Acute obstruction of the intestines preventing passage of the contents of the intestines. UMLS:C1258215|MEDDRA:10021328|MSH:D045823 hp.json Gastrointestinal atony http://purl.obolibrary.org/obo/HP_0002595 hposlim_core UBERON:0034922 biolink:AnatomicalEntity cell cluster A cluster of cells, largely surrounded by a morphological boundary. CARO:0020002|FMA:62807 hp.json http://purl.obolibrary.org/obo/UBERON_0034922 UBERON:0034923 biolink:AnatomicalEntity disconnected anatomical group Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. FBbt:00007276|CARO:0020000 hp.json http://purl.obolibrary.org/obo/UBERON_0034923 UBERON:0010913 biolink:AnatomicalEntity vertebral element Skeletal element that forms around the notochord and is part of the vertebral column. VHOG:0001143|VSAO:0000184 hp.json vertebra skeletal element|vertebra element|vertebra endochondral element|vertebral endochondral element http://purl.obolibrary.org/obo/UBERON_0010913 UBERON:0034925 biolink:AnatomicalEntity anatomical collection A collection of anatomical structures that are alike in terms of their morphology or developmental origin. hp.json http://purl.obolibrary.org/obo/UBERON_0034925 UBERON:0010911 biolink:AnatomicalEntity ossicle Skeletal element that is often isolated, small, and variable in composition. VSAO:0000132 hp.json http://purl.obolibrary.org/obo/UBERON_0010911 HP:0002599 biolink:PhenotypicFeature Head titubation A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. UMLS:C1608410 hp.json http://purl.obolibrary.org/obo/HP_0002599 UBERON:0034926 biolink:AnatomicalEntity anatomical row An anatomical collection that is arranged in a line. FBbt:00100152 hp.json http://purl.obolibrary.org/obo/UBERON_0034926 UBERON:0010912 biolink:AnatomicalEntity subdivision of skeleton Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. SCTID:129140006|VSAO:0000042|FMA:23879 hp.json subdivision of skeleton (in vivo)|skeletal subdivision http://purl.obolibrary.org/obo/UBERON_0010912 non_informative UBERON:0034928 biolink:AnatomicalEntity dorsal surface of penis FMA:19623 hp.json dorsum penis|dorsum of penis http://purl.obolibrary.org/obo/UBERON_0034928 UBERON:0034929 biolink:AnatomicalEntity external soft tissue zone A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. hp.json http://purl.obolibrary.org/obo/UBERON_0034929 HP:0002590 biolink:PhenotypicFeature Paralytic ileus SNOMEDCT_US:55525008|UMLS:C0030446|MSH:D007418 hp.json http://purl.obolibrary.org/obo/HP_0002590 CHEBI:78320 biolink:ChemicalSubstance 2-hydroxypropanoic acid A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group. CAS:50-21-5|KEGG:C01432|KEGG:D00111 hp.json 2-Hydroxypropanoic acid|Lactic acid|2-hydroxypropanoic acid|2-Hydroxypropionic acid http://purl.obolibrary.org/obo/CHEBI_78320 3_STAR HP:0002593 biolink:PhenotypicFeature Intestinal lymphangiectasia Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. UMLS:C0024215|MSH:D008201|SNOMEDCT_US:197260007 hp.json http://purl.obolibrary.org/obo/HP_0002593 HP:0002594 biolink:PhenotypicFeature Pancreatic hypoplasia Hypoplasia of the pancreas. UMLS:C0266267|SNOMEDCT_US:68591005 hp.json Hypoplastic pancreas|Underdeveloped pancreas http://purl.obolibrary.org/obo/HP_0002594 HP:0002591 biolink:PhenotypicFeature Polyphagia A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. MSH:D006963|SNOMEDCT_US:72405004|SNOMEDCT_US:58424009|UMLS:C0232461|UMLS:C0020505|SNOMEDCT_US:267023007 hp.json Increased appetite|Hyperphagia|Voracious appetite http://purl.obolibrary.org/obo/HP_0002591 HP:0002592 biolink:PhenotypicFeature Gastric ulcer An ulcer, that is, an erosion of an area of the gastric mucous membrane. MSH:D013276|UMLS:C0038358|SNOMEDCT_US:397825006|MEDDRA:10017822 hp.json Stomach ulcer http://purl.obolibrary.org/obo/HP_0002592 hposlim_core GO:0005840 biolink:CellularComponent ribosome An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. Wikipedia:Ribosome|NIF_Subcellular:sao1429207766 hp.json free ribosome|membrane bound ribosome|ribosomal RNA http://purl.obolibrary.org/obo/GO_0005840 goslim_metagenomics|goslim_aspergillus|goslim_chembl|goslim_generic|goslim_yeast|goslim_candida|goslim_plant|goslim_pir UBERON:0009917 biolink:AnatomicalEntity kidney corticomedullary boundary The region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary. EMAPA:37886 hp.json http://purl.obolibrary.org/obo/UBERON_0009917 pheno_slim UBERON:0009919 biolink:AnatomicalEntity ureter smooth muscle The smooth muscle tissue surrounding the epithelium of the ureter. EMAPA:28811 hp.json ureteral smooth muscle|ureteral smooth muscle layer http://purl.obolibrary.org/obo/UBERON_0009919 pheno_slim|human_reference_atlas UBERON:0034940 biolink:AnatomicalEntity venous sinus cavity An enlarged chamber in the blood sinus capable of accumulating a large volume of blood. ZFA:0007073 hp.json blood sinus cavity|blood sinus lumen http://purl.obolibrary.org/obo/UBERON_0034940 UBERON:0009920 biolink:AnatomicalEntity optic neural crest EHDAA:1122|EHDAA2:0001315 hp.json http://purl.obolibrary.org/obo/UBERON_0009920 UBERON:0034932 biolink:AnatomicalEntity epithelium of biliary system The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. BTO:0001513 hp.json biliary epithelium|biliary system epithelium|biliary tract epithelium http://purl.obolibrary.org/obo/UBERON_0034932 UBERON:0034933 biolink:AnatomicalEntity layer of smooth muscle tissue Any organ component layer that consists of smooth muscle tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0034933 CHEBI:30356 biolink:ChemicalSubstance isobutyl group hp.json (CH3)2CH-CH2-|2-methylpropan-1-ido|iBu|leucine side-chain|2-methylpropyl|-CH2-CH(CH3)2|isobutyl http://purl.obolibrary.org/obo/CHEBI_30356 3_STAR CHEBI:30353 biolink:ChemicalSubstance isopropyl group hp.json valine side-chain|(CH3)2CH-|iPr|1-methylethyl|-CH(CH3)2|isopropyl|propan-2-yl http://purl.obolibrary.org/obo/CHEBI_30353 3_STAR UBERON:0010905 biolink:AnatomicalEntity clavicle bone primordium A primordium that develops into a clavicle bone. EHDAA2:0000254 hp.json clavicle primordium http://purl.obolibrary.org/obo/UBERON_0010905 CHEBI:29337 biolink:ChemicalSubstance azanide hp.json azanide|amide|dihydridonitrate(1-)|NH2(-) http://purl.obolibrary.org/obo/CHEBI_29337 3_STAR CHEBI:32988 biolink:ChemicalSubstance amide An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. KEGG:C00241 hp.json Amide|amides http://purl.obolibrary.org/obo/CHEBI_32988 3_STAR UBERON:0019319 biolink:AnatomicalEntity exocrine gland of integumental system An exocrine gland that is part of a integumental system. hp.json integumental exocrine gland|integumental exocrine gland|integumental system exocrine gland|integumental system exocrine gland http://purl.obolibrary.org/obo/UBERON_0019319 UBERON:0010982 biolink:AnatomicalEntity latissimus dorsi pre-muscle mass EHDAA2:0000933 hp.json http://purl.obolibrary.org/obo/UBERON_0010982 UBERON:0010983 biolink:AnatomicalEntity levator scapulae pre-muscle mass EHDAA2:0000993 hp.json http://purl.obolibrary.org/obo/UBERON_0010983 UBERON:0019315 biolink:AnatomicalEntity meibum An oily substance that prevents evaporation of the eye's tear film. hp.json tarsal gland secretion http://purl.obolibrary.org/obo/UBERON_0019315 UBERON:0010975 biolink:AnatomicalEntity external oblique pre-muscle mass EHDAA2:0000470 hp.json http://purl.obolibrary.org/obo/UBERON_0010975 CHEBI:17347 biolink:ChemicalSubstance testosterone An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5.. Beilstein:1915399|Wikipedia:Testosterone|LIPID_MAPS_instance:LMST02020002|Reaxys:1915399|DrugBank:DB00624|CAS:58-22-0|PDBeChem:TES|Drug_Central:2607|KEGG:D00075|HMDB:HMDB0000234|PMID:24498482|CAS:58-22-0|CAS:58-22-0|PMID:10438974|PMID:11786693|Gmelin:538843|KEGG:C00535|Beilstein:3653705|KNApSAcK:C00003675|PMID:18900503 hp.json 17beta-Hydroxy-4-androsten-3-one|Testosterone|17beta-hydroxyandrost-4-en-3-one|Androderm|testosterone|TESTOSTERONE|4-androsten-17beta-ol-3-one|17beta-hydroxy-4-androsten-3-one|testosterone|testosterona|Testosteron|testosteronum http://purl.obolibrary.org/obo/CHEBI_17347 3_STAR UBERON:0010977 biolink:AnatomicalEntity flexor pre-muscle mass EHDAA2:0000543 hp.json http://purl.obolibrary.org/obo/UBERON_0010977 OBO:cl#lacks_plasma_membrane_part biolink:NamedThing lacks_plasma_membrane_part hp.json http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part UBERON:0019307 biolink:AnatomicalEntity epithelium of external nose Epithelial layer that is part of the external part of the nose. FMA:63143 hp.json epithelium of skin of external nose http://purl.obolibrary.org/obo/UBERON_0019307 CHEBI:29347 biolink:ChemicalSubstance monocarboxylic acid amide A carboxamide derived from a monocarboxylic acid. hp.json monocarboxylic acid amides http://purl.obolibrary.org/obo/CHEBI_29347 3_STAR CHEBI:29340 biolink:ChemicalSubstance hydridonitrate(2-) A divalent inorganic anion resulting from the removal of two protons from ammonia. hp.json NH(2-)|hydridonitrate(2-)|azanediide|imide http://purl.obolibrary.org/obo/CHEBI_29340 3_STAR UBERON:0019306 biolink:AnatomicalEntity nose epithelium MA:0003171|EMAPA:35958 hp.json http://purl.obolibrary.org/obo/UBERON_0019306 UBERON:0019304 biolink:AnatomicalEntity sensory organ epithelium MA:0003174|EMAPA:35952 hp.json http://purl.obolibrary.org/obo/UBERON_0019304 UBERON:0010970 biolink:AnatomicalEntity intercostal pre-muscle mass EHDAA2:0000843 hp.json http://purl.obolibrary.org/obo/UBERON_0010970 UBERON:0009988 biolink:AnatomicalEntity condyle of humerus The distal end of the humerus, including the trochlea, capitulum and the olecranon, coronoid and radial fossae. FMA:23377 hp.json condylus humeri|humeral condyle http://purl.obolibrary.org/obo/UBERON_0009988 UBERON:0010962 biolink:AnatomicalEntity extensor pre-muscle mass EHDAA2:0000459 hp.json http://purl.obolibrary.org/obo/UBERON_0010962 UBERON:0010963 biolink:AnatomicalEntity trunk and cervical myotome group EHDAA2:0003425 hp.json http://purl.obolibrary.org/obo/UBERON_0010963 UBERON:0009989 biolink:AnatomicalEntity condyle of tibia One of the lateral or medial condyles of the tibia. AAO:0000899 hp.json tibial condyle http://purl.obolibrary.org/obo/UBERON_0009989 human_reference_atlas CHEBI:91316 biolink:ChemicalSubstance (S)-methylsuccinic acid A 2-methylbutanedioic acid in which the methyl group at position 2 has S-configuration. Reaxys:1722948 hp.json (S)-2-methylbutanedioic acid|(2S)-2-methylbutanedioic acid http://purl.obolibrary.org/obo/CHEBI_91316 3_STAR CHEBI:91317 biolink:ChemicalSubstance (R)-methylsuccinic acid A 2-methylbutanedioic acid in which the methyl group at position 2 has R-configuration. CAS:3641-51-8|Reaxys:1722947 hp.json d-Methylsuccinic acid|(2R)-2-methylbutanedioic acid|(R)-2-methylbutanedioic acid http://purl.obolibrary.org/obo/CHEBI_91317 3_STAR UBERON:0007329 biolink:AnatomicalEntity pancreatic duct A duct that collects and carries secretions of the exocrine pancreas to the intestine. TAO:0001372|MESH:D010183|VHOG:0000254|FMA:10419|MA:0000124|EHDAA:9194|ZFA:0001372|EMAPA:32952 hp.json duct of pancreas|ductus pancreaticus|pancreas duct http://purl.obolibrary.org/obo/UBERON_0007329 human_reference_atlas|vertebrate_core|pheno_slim UBERON:0009980 biolink:AnatomicalEntity condyle of femur A condyle that is part of a distal epiphysis of femur. AAO:0000900|FMA:32855|NCIT:C114186|galen:FemoralCondyle hp.json condylus femoris|femoral condyle|condylus femoralis|fibular condyle http://purl.obolibrary.org/obo/UBERON_0009980 human_reference_atlas CHEBI:91315 biolink:ChemicalSubstance 2-methylbutanedioic acid A dicarboxylic acid that is butanedioic acid substituted at position 2 by a methyl group. hp.json 2-methylbutanedioic acid http://purl.obolibrary.org/obo/CHEBI_91315 3_STAR UBERON:0009984 biolink:AnatomicalEntity medial condyle of femur The medial condyle is one of the two projections on the lower extremity of femur. The medial condyle is larger than the lateral (outer) condyle due to more weight bearing caused by the center of gravity being medial to the knee. On the posterior surface of the condyle the linea aspera (a ridge running down the posterior shaft of the femur) turns into the medial supracondylar ridge. The outermost protrusion on the medial surface of the medial condyle is referred to as the 'medial epicondyle' and can be palpated by running fingers medially from the patella with the knee in flexion. FMA:32858 hp.json c. medialis femoris|c. medialis femoris|medial condyle of the femur|condylus medialis femoris|medial femoral condyle http://purl.obolibrary.org/obo/UBERON_0009984 human_reference_atlas UBERON:0007324 biolink:AnatomicalEntity pancreatic lobule A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. MA:0000721|FMA:16012|EMAPA:37710 hp.json pancreatic lobule|pancreas lobe|lobulus pancreaticus http://purl.obolibrary.org/obo/UBERON_0007324 human_reference_atlas CHEBI:32964 biolink:ChemicalSubstance ornithinate Gmelin:1242186 hp.json 2,5-diaminopentanoate|ornithinate|ornithine anion http://purl.obolibrary.org/obo/CHEBI_32964 3_STAR UBERON:0007312 biolink:AnatomicalEntity pudendal artery Either the internal or external pudendal arteries. EMAPA:37111|MA:0002028 hp.json arteriae pudendales|arteriae pudendae|arteriae pudendae http://purl.obolibrary.org/obo/UBERON_0007312 UBERON:0010953 biolink:AnatomicalEntity nasalis muscle The nasalis (compressor naris) is a sphincter-like muscle of the nose whose function is to compress the nasal cartilage. It consists of two parts, transverse and alar: The transverse part arises from the maxilla, above and lateral to the incisive fossa; its fibers proceed upward and medially, expanding into a thin aponeurosis which is continuous on the bridge of the nose with that of the muscle of the opposite side, and with the aponeurosis of the Procerus. The alar part is attached at one end to the greater alar cartilage, and at the other to the integument at the point of the nose. Other sources divide it into 'Compressor nasalis' and 'Dilator nasalis'. FMA:46770 hp.json compressor nasi|musculus nasalis|compressor narium minor|nasalis|compressor naris http://purl.obolibrary.org/obo/UBERON_0010953 UBERON:0010952 biolink:AnatomicalEntity frontalis muscle belly A belly of the occipitofrontalis muscle that is near the frontal bone. FMA:46757 hp.json venter frontalis (musculus occipitofrontalis)|orbito-temporo-auricularis|venter frontalis musculi occipitofrontalis|frontalis muscke|frontalis|venter frontalis musculus occipitofrontalis|frontal belly of occipitofrontalis|frontal belly of occipitofrontalis muscle|frontal part of occipitofrontalis http://purl.obolibrary.org/obo/UBERON_0010952 pheno_slim UBERON:0009979 biolink:AnatomicalEntity condyle An articular prominence of a bone, typically present in pairs, resembling a pair of knuckles. Examples: Condyle of humerus, condyle of femur. galen:Condyle|NCIT:C83002|TAO:0002259|UMLS:C0524414|FMA:75434 hp.json condylus http://purl.obolibrary.org/obo/UBERON_0009979 UBERON:0010955 biolink:AnatomicalEntity trapezius pre-muscle mass EHDAA2:0002079 hp.json http://purl.obolibrary.org/obo/UBERON_0010955 PR:000028527 biolink:Protein casein derived peptide A proteolytic cleavage product that is derived from any of the casein milk proteins. hp.json CN (f) http://purl.obolibrary.org/obo/PR_000028527 CHEBI:17368 biolink:ChemicalSubstance hypoxanthine A purine nucleobase that consists of purine bearing an oxo substituent at position 6. Wikipedia:Hypoxanthine|MetaCyc:HYPOXANTHINE|HMDB:HMDB0000157|KNApSAcK:C00001502|Beilstein:5811|PMID:23400363|CAS:68-94-0|Reaxys:5811|PMID:22735334|ECMDB:ECMDB00157|CAS:68-94-0|PDBeChem:HPA|PMID:8016081|CAS:68-94-0|DrugBank:DB04076|PMID:14253484|Gmelin:464558|PMID:1557408|PMID:23670363|KEGG:C00262|YMDB:YMDB00555 hp.json purin-6(1H)-one|Purine-6-ol|Hypoxanthine|HYPOXANTHINE|1,7-dihydro-6H-purin-6-one|hypoxanthine|6-oxopurine|6(1H)-purinone|9H-purin-6(1H)-one|Hyp http://purl.obolibrary.org/obo/CHEBI_17368 3_STAR UBERON:0010959 biolink:AnatomicalEntity craniocervical muscle Any muscle organ that is part of either the head or the neck. UMLS:C0448281|NCIT:C32716 hp.json muscle of head and neck|muscle of head or neck http://purl.obolibrary.org/obo/UBERON_0010959 UBERON:0009970 biolink:AnatomicalEntity epithelium of pancreatic duct An epithelium that is part of a pancreatic duct. FMA:67681|EFO:0002556 hp.json pancreatic duct epithelium|pancreatic ductal epithelium http://purl.obolibrary.org/obo/UBERON_0009970 efo_slim CHEBI:17364 biolink:ChemicalSubstance D-aspartic acid The D-enantiomer of aspartic acid. PMID:11419736|PMID:17407322|DrugBank:DB02655|KEGG:C00402|PMID:18318836|CAS:1783-96-6|PDBeChem:DAS|HMDB:HMDB0006483|PMID:17118457|CAS:1783-96-6|MetaCyc:CPD-302|CAS:1783-96-6|Beilstein:1723529|Reaxys:1723529|Gmelin:602084|PMID:19860889 hp.json aspartic acid D-form|D-Asparaginsaeure|D-Aspartic acid|DAS|(2R)-2-aminobutanedioic acid|(R)-2-aminosuccinic acid|D-aspartic acid|(R)-2-aminobutanedioic acid http://purl.obolibrary.org/obo/CHEBI_17364 3_STAR UBERON:0007315 biolink:AnatomicalEntity internal pudendal artery The internal pudendal artery is an artery that branches off the internal iliac artery, providing blood to the external genitalia. The internal pudendal artery is the terminal branch of the anterior trunk of the internal iliac artery. It is smaller in the female than in the male. FMA:18835 hp.json arteriae pudendae interna|arteriae pudendae interna|internal pudendal vessels|arteriae pudendales interna|arteria pudenda interna|internal pudic artery http://purl.obolibrary.org/obo/UBERON_0007315 human_reference_atlas UBERON:0009972 biolink:AnatomicalEntity ureteropelvic junction The junction between the ureter and the renal pelvis of the kidney. NCIT:C106203|MA:0003021|FMA:15898|EMAPA:37782 hp.json pelvoureteric junction|pelviureteric junction http://purl.obolibrary.org/obo/UBERON_0009972 pheno_slim UBERON:0009973 biolink:AnatomicalEntity ureterovesical junction The valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney. NCIT:C106202|EMAPA:37783|MA:0003020|FMA:15899 hp.json vesico-ureteral junction|vesicoureteric junction|vesico-ureteric junction http://purl.obolibrary.org/obo/UBERON_0009973 pheno_slim UBERON:0009974 biolink:AnatomicalEntity lumen of Rathke's pouch An anatomical cavity that surrounded_by a Rathke's pouch. EMAPA:25037|EHDAA2:0004138 hp.json Rathkes pouch invagination http://purl.obolibrary.org/obo/UBERON_0009974 UBERON:0007301 biolink:AnatomicalEntity appendage blood vessel A blood vessel that is part of a limb/fin. TAO:0005299|ZFA:0005299 hp.json fin blood vessel|limb blood vessel http://purl.obolibrary.org/obo/UBERON_0007301 UBERON:0010943 biolink:AnatomicalEntity anterior digastric muscle The anterior digastric is a pharyngeal arch I muscle that participates in oral/pharygeal behaviors and is innervated by the nerve to mylohyoid (a branch of the third division of the trigeminal nerve), is attached to the mandible and to the hyoid apparatus, and it is superficial to mylohyoid muscle. EMAPA:37405|FMA:46302 hp.json venter anterior (musculus digastricus)|digastric, anterior|digastricus anterior|anterior digastric muscle|venter posterior musculus digastrici anterior|anterior belly of digastric muscle|digastricus, venter rostralis|anterior digastric|anterior belly of digastric|digastricus anterior belly http://purl.obolibrary.org/obo/UBERON_0010943 feed_aligned UBERON:0007300 biolink:AnatomicalEntity pectoral appendage blood vessel A blood vessel that is part of a pectoral appendage. ZFA:0005301|TAO:0005301 hp.json pectoral fin blood vessel http://purl.obolibrary.org/obo/UBERON_0007300 UBERON:0010940 biolink:AnatomicalEntity muscle of digastric group Either of the two muscles that comprise the digastric group (anterior or posterior). FMA:46297 hp.json digastric|digastricus|musculus digastricus|digastric belly|digastric muscle|belly of digastric|muscle body proper of digastric|belly of digastric muscle http://purl.obolibrary.org/obo/UBERON_0010940 CHEBI:32970 biolink:ChemicalSubstance 2-aminoethanesulfonate A 1,1-diunsubstituted alkanesulfonate that is ethanesulfonate substituted by an amino group at position 2. Beilstein:3588289|Reaxys:3588289 hp.json 2-aminoethanesulfonate http://purl.obolibrary.org/obo/CHEBI_32970 3_STAR UBERON:0010946 biolink:AnatomicalEntity occipitofrontalis muscle The occipitofrontalis or epicranius is a muscle which covers parts of the skull. It consists of two parts or bellies: The occipital belly, near the occipital bone, and the frontal belly, near the frontal bone. FMA:9624|NCIT:C33198|UMLS:C1518531 hp.json epicranius|occipito-frontalis|musculus occipitofrontalis|occipitofrontalis http://purl.obolibrary.org/obo/UBERON_0010946 CHEBI:17359 biolink:ChemicalSubstance sulfite A sulfur oxoanion that is the conjugate base of hydrogen sulfite (H2SO3). CAS:14265-45-3|PDBeChem:SO3|Gmelin:1449 hp.json [SO3](2-)|sulphite|SO3|sulfite|trioxosulfate(2-)|trioxosulfate(IV)|sulfite|trioxidosulfate(2-)|SO3(2-)|SULFITE ION http://purl.obolibrary.org/obo/CHEBI_17359 3_STAR UBERON:0007307 biolink:AnatomicalEntity pronephric glomerular basement membrane A glomerular basement membrane that is part of a pronephros. TAO:0005313|ZFA:0005313 hp.json pronephric glomerular filtration membrane http://purl.obolibrary.org/obo/UBERON_0007307 UBERON:0010948 biolink:AnatomicalEntity cleidooccipital muscle A muscle organ that attaches_to a clavicle and attaches_to a occipital bone. NCIT:C52895|MA:0002276|EMAPA:37688 hp.json cleido-occipitalis|cleido-occipitalis muscle|cleidooccipital http://purl.obolibrary.org/obo/UBERON_0010948 UBERON:0007306 biolink:AnatomicalEntity pronephric glomerular capillary A glomerular capillary that is part of a pronephros. ZFA:0005309|TAO:0005309 hp.json http://purl.obolibrary.org/obo/UBERON_0007306 UBERON:0010949 biolink:AnatomicalEntity sternooccipital muscle A muscle organ that has_muscle_insertion a occipital bone and has_muscle_origin a sternum. NCIT:C53069|EMAPA:37702|MA:0002385|UMLS:C1710196 hp.json sternooccipital http://purl.obolibrary.org/obo/UBERON_0010949 UBERON:0007304 biolink:AnatomicalEntity appendage vasculature A vasculature that is part of a limb/fin. ZFA:0005095|TAO:0005095 hp.json fin vasculature http://purl.obolibrary.org/obo/UBERON_0007304 UBERON:0007303 biolink:AnatomicalEntity pharyngeal vasculature A vasculature that is part of a chordate pharynx. TAO:0005003|ZFA:0005003 hp.json branchial vasculature http://purl.obolibrary.org/obo/UBERON_0007303 UBERON:0007302 biolink:AnatomicalEntity pectoral appendage vasculature A vasculature that is part of a pectoral appendage. ZFA:0005096|TAO:0005096 hp.json pectoral fin vasculature http://purl.obolibrary.org/obo/UBERON_0007302 GO:0003278 biolink:BiologicalProcess apoptotic process involved in heart morphogenesis Any apoptotic process that contributes to the shaping of the heart. hp.json apoptosis involved in heart morphogenesis http://purl.obolibrary.org/obo/GO_0003278 GO:0003277 biolink:BiologicalProcess apoptotic process involved in endocardial cushion morphogenesis Any apoptotic process that contributes to the shaping of an endocardial cushion. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. hp.json apoptosis involved in endocardial cushion morphogenesis http://purl.obolibrary.org/obo/GO_0003277 GO:0003279 biolink:BiologicalProcess cardiac septum development The progression of a cardiac septum over time, from its initial formation to the mature structure. hp.json heart septum development http://purl.obolibrary.org/obo/GO_0003279 HP:0002539 biolink:PhenotypicFeature Cortical dysplasia The presence of developmental dysplasia of the cerebral cortex. SNOMEDCT_US:253153000|UMLS:C0431380|MSH:D054220 hp.json Neocortical dysplasia http://purl.obolibrary.org/obo/HP_0002539 GO:0003273 biolink:BiologicalProcess cell migration involved in endocardial cushion formation The orderly movement of a cell from one site to another that will contribute to the formation of an endocardial cushion. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. hp.json http://purl.obolibrary.org/obo/GO_0003273 GO:0003275 biolink:BiologicalProcess apoptotic process involved in outflow tract morphogenesis Any apoptotic process that contributes to the shaping of the outflow tract. The outflow tract is the portion of the heart through which blood flows into the arteries. hp.json apoptosis involved in outflow tract morphogenesis http://purl.obolibrary.org/obo/GO_0003275 HP:0002538 biolink:PhenotypicFeature Abnormal cerebral cortex morphology Any structural abnormality of the cerebral cortex. UMLS:C4025701 hp.json Abnormality of the cerebral cortex http://purl.obolibrary.org/obo/HP_0002538 GO:0003272 biolink:BiologicalProcess endocardial cushion formation The developmental process pertaining to the initial formation of an endocardial cushion. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. hp.json http://purl.obolibrary.org/obo/GO_0003272 HP:0002530 biolink:PhenotypicFeature Axial dystonia A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. UMLS:C1836149 hp.json Truncal dystonia http://purl.obolibrary.org/obo/HP_0002530 HP:0002536 biolink:PhenotypicFeature Abnormal cortical gyration An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. UMLS:C1856019 hp.json Cerebral gyral anomalies|Gyral disorganization|Abnormal gyration http://purl.obolibrary.org/obo/HP_0002536 HP:0002533 biolink:PhenotypicFeature Abnormal posturing Involuntary flexion or extension of the arms and legs. UMLS:C0231471|SNOMEDCT_US:43029002 hp.json http://purl.obolibrary.org/obo/HP_0002533 GO:0030890 biolink:BiologicalProcess positive regulation of B cell proliferation Any process that activates or increases the rate or extent of B cell proliferation. hp.json positive regulation of B-lymphocyte proliferation|upregulation of B cell proliferation|stimulation of B cell proliferation|up regulation of B cell proliferation|positive regulation of B-cell proliferation|positive regulation of B lymphocyte proliferation|activation of B cell proliferation|up-regulation of B cell proliferation http://purl.obolibrary.org/obo/GO_0030890 GO:0030888 biolink:BiologicalProcess regulation of B cell proliferation Any process that modulates the frequency, rate or extent of B cell proliferation. hp.json regulation of B-cell proliferation|regulation of B lymphocyte proliferation|regulation of B-lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0030888 GO:0030889 biolink:BiologicalProcess negative regulation of B cell proliferation Any process that stops, prevents or reduces the rate or extent of B cell proliferation. hp.json negative regulation of B-lymphocyte proliferation|downregulation of B cell proliferation|down regulation of B cell proliferation|inhibition of B cell proliferation|down-regulation of B cell proliferation|negative regulation of B-cell proliferation|negative regulation of B lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0030889 GO:0030886 biolink:BiologicalProcess negative regulation of myeloid dendritic cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid dendritic cell activation. hp.json down-regulation of myeloid dendritic cell activation|down regulation of myeloid dendritic cell activation|inhibition of myeloid dendritic cell activation|downregulation of myeloid dendritic cell activation http://purl.obolibrary.org/obo/GO_0030886 GO:0030887 biolink:BiologicalProcess positive regulation of myeloid dendritic cell activation Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation. hp.json up regulation of myeloid dendritic cell activation|activation of myeloid dendritic cell activation|stimulation of myeloid dendritic cell activation|upregulation of myeloid dendritic cell activation|up-regulation of myeloid dendritic cell activation http://purl.obolibrary.org/obo/GO_0030887 GO:0030885 biolink:BiologicalProcess regulation of myeloid dendritic cell activation Any process that modulates the frequency or rate of myeloid dendritic cell activation. hp.json http://purl.obolibrary.org/obo/GO_0030885 HP:0002548 biolink:PhenotypicFeature Parkinsonism with favorable response to dopaminergic medication Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. UMLS:C1846868 hp.json Favorable response to levodopa|Favourable response to levodopa|Parkinsonism with favourable response to dopaminergic medication http://purl.obolibrary.org/obo/HP_0002548 HP:0002549 biolink:PhenotypicFeature Deficit in phonologic short-term memory Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory UMLS:C1847609 hp.json Impaired non-word repetition|Deficit in non-word repetition http://purl.obolibrary.org/obo/HP_0002549 GO:0003281 biolink:BiologicalProcess ventricular septum development The progression of the ventricular septum over time from its formation to the mature structure. hp.json interventricular septum development|septum inferius development http://purl.obolibrary.org/obo/GO_0003281 GO:0003283 biolink:BiologicalProcess atrial septum development The progression of the atrial septum over time, from its initial formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0003283 HP:0002542 biolink:PhenotypicFeature Olivopontocerebellar atrophy Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. MSH:D009849|UMLS:C0028968|SNOMEDCT_US:67761004 hp.json Olivopontocerebellar degeneration http://purl.obolibrary.org/obo/HP_0002542 HP:0002540 biolink:PhenotypicFeature Inability to walk Incapability to ambulate. SNOMEDCT_US:282145008|UMLS:C0560046 hp.json Non-ambulatory|Inability to walk http://purl.obolibrary.org/obo/HP_0002540 HP:0002546 biolink:PhenotypicFeature Incomprehensible speech UMLS:C1838027 hp.json Incomprehensible speech http://purl.obolibrary.org/obo/HP_0002546 HP:0002544 biolink:PhenotypicFeature Retrocollis A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. UMLS:C3887667 hp.json http://purl.obolibrary.org/obo/HP_0002544 HP:0002545 biolink:PhenotypicFeature Patchy demyelination of subcortical white matter Patchy loss of myelin from nerve fibers in the central nervous system. UMLS:C1857638 hp.json http://purl.obolibrary.org/obo/HP_0002545 GO:0030879 biolink:BiologicalProcess mammary gland development The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages. hp.json mammogenesis http://purl.obolibrary.org/obo/GO_0030879 HP:0002518 biolink:PhenotypicFeature Abnormal periventricular white matter morphology A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. UMLS:C2673431 hp.json Periventricular white matter abnormalities|Abnormality of the periventricular white matter http://purl.obolibrary.org/obo/HP_0002518 HP:0002515 biolink:PhenotypicFeature Waddling gait Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. SNOMEDCT_US:271706000|MSH:D020233|UMLS:C0231712 hp.json Waddling gait|Waddling walk http://purl.obolibrary.org/obo/HP_0002515 HP:0002516 biolink:PhenotypicFeature Increased intracranial pressure An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. UMLS:C0151740|SNOMEDCT_US:271719001|MSH:D019586 hp.json Pseudotumor cerebri|Rise in pressure inside skull|Intracranial hypertension|Intracranial pressure elevation http://purl.obolibrary.org/obo/HP_0002516 GO:0003253 biolink:BiologicalProcess cardiac neural crest cell migration involved in outflow tract morphogenesis The orderly movement of a neural crest cell from one site to another that will contribute to the morphogenesis of the outflow tract. hp.json http://purl.obolibrary.org/obo/GO_0003253 HP:0002519 biolink:PhenotypicFeature Hypnagogic hallucinations Fleeting perceptual experiences that occur during the transition from wakefulness to sleep. MSH:D006212|UMLS:C0233773|SNOMEDCT_US:44780000 hp.json http://purl.obolibrary.org/obo/HP_0002519 HP:0002510 biolink:PhenotypicFeature Spastic tetraplegia Spastic paralysis affecting all four limbs. UMLS:C0426970|MSH:D011782|SNOMEDCT_US:192965001 hp.json Spastic quadriplegia http://purl.obolibrary.org/obo/HP_0002510 HP:0002514 biolink:PhenotypicFeature Cerebral calcification The presence of calcium deposition within brain structures. SNOMEDCT_US:17944005|UMLS:C0270685 hp.json Brain calcification|Intracerebral calcifications|Intracranial calcification|Abnormal deposits of calcium in the brain|Intracranial calcifications http://purl.obolibrary.org/obo/HP_0002514 HP:0002511 biolink:PhenotypicFeature Alzheimer disease A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. SNOMEDCT_US:230267005|UMLS:C0002395|MSH:C536595|MSH:D000544|MONDO:0004975|UMLS:C1863051|DOID:10652|SNOMEDCT_US:26929004 hp.json Alzheimer disease|Late-onset form of familial Alzheimer disease http://purl.obolibrary.org/obo/HP_0002511 HP:0002512 biolink:PhenotypicFeature Brain stem compression UMLS:C0270680|SNOMEDCT_US:5582005|SNOMEDCT_US:25816005 hp.json http://purl.obolibrary.org/obo/HP_0002512 HP:0002528 biolink:PhenotypicFeature Granulovacuolar degeneration Electron-dense granules within double membrane-bound cytoplasmic vacuoles. UMLS:C0333454|SNOMEDCT_US:90506004 hp.json http://purl.obolibrary.org/obo/HP_0002528 HP:0002529 biolink:PhenotypicFeature Neuronal loss in central nervous system UMLS:C1850496 hp.json Loss of brain cells|Neuronal loss|Neuronal loss in CNS http://purl.obolibrary.org/obo/HP_0002529 HP:0002526 biolink:PhenotypicFeature Deficit in nonword repetition Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory. UMLS:C4025702 hp.json http://purl.obolibrary.org/obo/HP_0002526 HP:0002527 biolink:PhenotypicFeature Falls UMLS:C0085639|SNOMEDCT_US:161898004|SNOMEDCT_US:1912002 hp.json Falls http://purl.obolibrary.org/obo/HP_0002527 GO:0003260 biolink:BiologicalProcess cardioblast migration The orderly movement of a cardiac progenitor cell to form the heart field. Cardiac progenitor cells are non-terminally differentiated, mesoderm-derived cells that are committed to differentiate into cells of the heart. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. hp.json http://purl.obolibrary.org/obo/GO_0003260 HP:0002521 biolink:PhenotypicFeature Hypsarrhythmia Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). UMLS:C0684276|SNOMEDCT_US:28055006|MSH:D013036 hp.json Hypsarrhythmia by EEG http://purl.obolibrary.org/obo/HP_0002521 HP:0002524 biolink:PhenotypicFeature Cataplexy A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. MSH:D002385|SNOMEDCT_US:46263000|UMLS:C0007384 hp.json http://purl.obolibrary.org/obo/HP_0002524 HP:0002522 biolink:PhenotypicFeature Areflexia of lower limbs Inability to elicit tendon reflexes in the lower limbs. UMLS:C1856694 hp.json Absent lower limb tendon reflexes|Areflexia, lower limbs|Areflexia of the lower limbs|Areflexia in lower limbs http://purl.obolibrary.org/obo/HP_0002522 GO:0003238 biolink:BiologicalProcess conus arteriosus development The progression of the conus arteriosus over time, from its formation to the mature structure. The conus arteriosus is a valved chamber with thick muscular walls stemming from the ventricle and connecting to the pulmonary trunk. hp.json http://purl.obolibrary.org/obo/GO_0003238 GO:0030857 biolink:BiologicalProcess negative regulation of epithelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation. hp.json inhibition of epithelial cell differentiation|downregulation of epithelial cell differentiation|down-regulation of epithelial cell differentiation|down regulation of epithelial cell differentiation http://purl.obolibrary.org/obo/GO_0030857 GO:0003237 biolink:BiologicalProcess sinus venosus formation The developmental process pertaining to the initial formation of the sinus venosus from unspecified parts. The sinus venosus is a heart chamber attached to the atrium on the venous side of the embryonic heart. hp.json http://purl.obolibrary.org/obo/GO_0003237 GO:0030858 biolink:BiologicalProcess positive regulation of epithelial cell differentiation Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation. hp.json up-regulation of epithelial cell differentiation|up regulation of epithelial cell differentiation|activation of epithelial cell differentiation|stimulation of epithelial cell differentiation|upregulation of epithelial cell differentiation http://purl.obolibrary.org/obo/GO_0030858 GO:0030855 biolink:BiologicalProcess epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium. hp.json http://purl.obolibrary.org/obo/GO_0030855 GO:0003239 biolink:BiologicalProcess conus arteriosus morphogenesis The process in which the conus arteriosus is generated and organized. The conus arteriosus is a valved chamber with thick muscular walls stemming from the ventricle and connecting to the pulmonary trunk. hp.json http://purl.obolibrary.org/obo/GO_0003239 GO:0030856 biolink:BiologicalProcess regulation of epithelial cell differentiation Any process that modulates the frequency, rate or extent of epithelial cell differentiation. hp.json http://purl.obolibrary.org/obo/GO_0030856 GO:0030853 biolink:BiologicalProcess negative regulation of granulocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation. hp.json inhibition of granulocyte differentiation|downregulation of granulocyte differentiation|down-regulation of granulocyte differentiation|down regulation of granulocyte differentiation http://purl.obolibrary.org/obo/GO_0030853 GO:0030854 biolink:BiologicalProcess positive regulation of granulocyte differentiation Any process that activates or increases the frequency, rate or extent of granulocyte differentiation. hp.json up-regulation of granulocyte differentiation|up regulation of granulocyte differentiation|activation of granulocyte differentiation|stimulation of granulocyte differentiation|upregulation of granulocyte differentiation http://purl.obolibrary.org/obo/GO_0030854 GO:0003236 biolink:BiologicalProcess sinus venosus morphogenesis The process in which the sinus venosus is generated and organized. The sinus venosus is a heart chamber attached to the atrium on the venous side of the embryonic heart. hp.json http://purl.obolibrary.org/obo/GO_0003236 GO:0030851 biolink:BiologicalProcess granulocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. hp.json granulocyte cell differentiation http://purl.obolibrary.org/obo/GO_0030851 GO:0030852 biolink:BiologicalProcess regulation of granulocyte differentiation Any process that modulates the frequency, rate or extent of granulocyte differentiation. hp.json http://purl.obolibrary.org/obo/GO_0030852 GO:0003235 biolink:BiologicalProcess sinus venosus development The progression of the sinus venosus over time, from its formation to the mature structure. The sinus venosus is a heart chamber attached to the atrium on the venous side of the embryonic heart. hp.json http://purl.obolibrary.org/obo/GO_0003235 GO:0003230 biolink:BiologicalProcess cardiac atrium development The process whose specific outcome is the progression of a cardiac atrium over time, from its formation to the mature structure. A cardiac atrium receives blood from a vein and pumps it to a cardiac ventricle. hp.json http://purl.obolibrary.org/obo/GO_0003230 GO:0003231 biolink:BiologicalProcess cardiac ventricle development The process whose specific outcome is the progression of a cardiac ventricle over time, from its formation to the mature structure. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart. hp.json http://purl.obolibrary.org/obo/GO_0003231 HP:0002575 biolink:PhenotypicFeature Tracheoesophageal fistula An abnormal connection (fistula) between the esophagus and the trachea. SNOMEDCT_US:95435007|UMLS:C0040588|MSH:D014138|MEDDRA:10044310|Fyler:4202 hp.json Abnormal connection between trachea and oesophagus|Abnormal connection between trachea and esophagus http://purl.obolibrary.org/obo/HP_0002575 hposlim_core HP:0002576 biolink:PhenotypicFeature Intussusception An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. UMLS:C0021933|MSH:D007443|MEDDRA:10022863|SNOMEDCT_US:49723003|SNOMEDCT_US:35327006 hp.json http://purl.obolibrary.org/obo/HP_0002576 hposlim_core HP:0002573 biolink:PhenotypicFeature Hematochezia The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. SNOMEDCT_US:236068001|SNOMEDCT_US:405729008|UMLS:C0018932|MSH:D006471 hp.json Rectal bleeding|Recurrent rectal bleeding http://purl.obolibrary.org/obo/HP_0002573 UBERON:0009911 biolink:AnatomicalEntity lobule FMA:45737|NCIT:C12990|UMLS:C0921005 hp.json lobulus http://purl.obolibrary.org/obo/UBERON_0009911 upper_level HP:0002574 biolink:PhenotypicFeature Episodic abdominal pain An intermittent form of abdominal pain. UMLS:C3808022|UMLS:C0262527 hp.json Intermittent abdominal pain http://purl.obolibrary.org/obo/HP_0002574 UBERON:0009912 biolink:AnatomicalEntity anatomical lobe A portion of an organ, such as the liver, lung, breast, or brain. FMA:45728|NCIT:C13393 hp.json lobus http://purl.obolibrary.org/obo/UBERON_0009912 upper_level UBERON:0009913 biolink:AnatomicalEntity renal lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. FMA:17881|NCIT:C32894|UMLS:C0736382 hp.json lobus renalis|lobi renalis|lobi renales|kidney lobe http://purl.obolibrary.org/obo/UBERON_0009913 pheno_slim HP:0002579 biolink:PhenotypicFeature Gastrointestinal dysmotility Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. UMLS:C1836923 hp.json GI dysmotility http://purl.obolibrary.org/obo/HP_0002579 hposlim_core UBERON:0009914 biolink:AnatomicalEntity renal lobule The portion of a renal lobe consisting of nephrons grouped around a single medullary ray and draining into a single collecting duct; human kidneys have multilobular, multipapillary architecture while mice and rats have unilobular, unipapillary kidneys. FMA:17670 hp.json renunculus|kidney lobule|renal cortical lobule|cortical lobule of kidney|cortical lobule|lobuli corticales renis|renculus|reniculus|lobulus corticalis renalis|lobulus renalis http://purl.obolibrary.org/obo/UBERON_0009914 pheno_slim HP:0002577 biolink:PhenotypicFeature Abnormal stomach morphology An abnormality of the stomach. UMLS:C4025699 hp.json Abnormality of the stomach http://purl.obolibrary.org/obo/HP_0002577 HP:0002578 biolink:PhenotypicFeature Gastroparesis Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. SNOMEDCT_US:235675006|MSH:D018589|SNOMEDCT_US:196753007|UMLS:C0152020 hp.json Delayed gastric emptying http://purl.obolibrary.org/obo/HP_0002578 hposlim_core UBERON:0009916 biolink:AnatomicalEntity wall of ureter An anatomical wall that is part of a ureter. FMA:15888 hp.json ureteral wall http://purl.obolibrary.org/obo/UBERON_0009916 HP:0002571 biolink:PhenotypicFeature Achalasia A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. UMLS:C0014848|MSH:D004931|MEDDRA:10030136|SNOMEDCT_US:45564002 hp.json Achalasia of the oesophagus|Achalasia of the esophagus http://purl.obolibrary.org/obo/HP_0002571 hposlim_core HP:0002572 biolink:PhenotypicFeature Episodic vomiting Paroxysmal, recurrent episodes of vomiting. UMLS:C1838993|UMLS:C1857202 hp.json Frequent vomiting|Episodic vomiting http://purl.obolibrary.org/obo/HP_0002572 HP:0002570 biolink:PhenotypicFeature Steatorrhea Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. UMLS:C0038238|SNOMEDCT_US:66187002|SNOMEDCT_US:27868004|MSH:D045602 hp.json Greasy stools|Fat in faeces|Fatty stool|Fat in feces http://purl.obolibrary.org/obo/HP_0002570 GO:0003248 biolink:BiologicalProcess heart capillary growth The increase in heart capillaries that accompanies physiological hypertrophy of cardiac muscle. hp.json http://purl.obolibrary.org/obo/GO_0003248 GO:0003245 biolink:BiologicalProcess cardiac muscle tissue growth involved in heart morphogenesis The developmental growth of cardiac muscle tissue that contributes to the shaping of the heart. hp.json http://purl.obolibrary.org/obo/GO_0003245 GO:0003241 biolink:BiologicalProcess growth involved in heart morphogenesis Developmental growth that contributes to the shaping of the heart. hp.json http://purl.obolibrary.org/obo/GO_0003241 GO:0003240 biolink:BiologicalProcess conus arteriosus formation The developmental process pertaining to the initial formation of the conus arteriosus from unspecified parts. The conus arteriosus is a valved chamber with thick muscular walls stemming from the ventricle and connecting to the pulmonary trunk. hp.json http://purl.obolibrary.org/obo/GO_0003240 HP:0002586 biolink:PhenotypicFeature Peritonitis Inflammation of the peritoneum. UMLS:C0031154|SNOMEDCT_US:48661000|MSH:D010538 hp.json Inflammation of the peritoneum http://purl.obolibrary.org/obo/HP_0002586 HP:0002587 biolink:PhenotypicFeature Projectile vomiting Vomiting that ejects the gastric contents with great force. SNOMEDCT_US:8579004|UMLS:C0221151 hp.json Projectile vomiting http://purl.obolibrary.org/obo/HP_0002587 HP:0002584 biolink:PhenotypicFeature Intestinal bleeding Bleeding from the intestines. SNOMEDCT_US:712510007|UMLS:C0267373 hp.json Intestinal hemorrhage|Intestinal haemorrhage|Intestinal bleeding http://purl.obolibrary.org/obo/HP_0002584 HP:0002585 biolink:PhenotypicFeature Abnormality of the peritoneum An abnormality of the peritoneum. UMLS:C4025698 hp.json http://purl.obolibrary.org/obo/HP_0002585 HP:0002588 biolink:PhenotypicFeature Duodenal ulcer An erosion of the mucous membrane in a portion of the duodenum. SNOMEDCT_US:51868009|SNOMEDCT_US:367474008|MEDDRA:10013836|MSH:D004381|UMLS:C0013295 hp.json http://purl.obolibrary.org/obo/HP_0002588 hposlim_core HP:0002589 biolink:PhenotypicFeature Gastrointestinal atresia UMLS:C4025697 hp.json GI atresia http://purl.obolibrary.org/obo/HP_0002589 HP:0002582 biolink:PhenotypicFeature Atrophic gastritis Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue. SNOMEDCT_US:84568007|UMLS:C0017154|MSH:D005757 hp.json Chronic atrophic gastritis http://purl.obolibrary.org/obo/HP_0002582 HP:0002583 biolink:PhenotypicFeature Colitis Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. UMLS:C0009319|SNOMEDCT_US:64226004|MSH:D003092 hp.json http://purl.obolibrary.org/obo/HP_0002583 HP:0002580 biolink:PhenotypicFeature Volvulus Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. UMLS:C0042961|SNOMEDCT_US:9707006|SNOMEDCT_US:90738007|MSH:D045822 hp.json http://purl.obolibrary.org/obo/HP_0002580 GO:0003216 biolink:BiologicalProcess cardiac left atrium formation The developmental process pertaining to the initial formation of a left cardiac atrium from unspecified parts. hp.json http://purl.obolibrary.org/obo/GO_0003216 GO:0005879 biolink:CellularComponent axonemal microtubule A microtubule in the axoneme of a eukaryotic cilium or flagellum; an axoneme contains nine modified doublet microtubules, which may or may not surround a pair of single microtubules. hp.json http://purl.obolibrary.org/obo/GO_0005879 GO:0003215 biolink:BiologicalProcess cardiac right ventricle morphogenesis The process in which the right cardiac ventricle is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0003215 GO:0003218 biolink:BiologicalProcess cardiac left ventricle formation The developmental process pertaining to the initial formation of a left cardiac ventricle from unspecified parts. hp.json http://purl.obolibrary.org/obo/GO_0003218 GO:0003217 biolink:BiologicalProcess cardiac right atrium formation The developmental process pertaining to the initial formation of a cardiac right atrium from unspecified parts. hp.json http://purl.obolibrary.org/obo/GO_0003217 GO:0003212 biolink:BiologicalProcess cardiac left atrium morphogenesis The process in which the left cardiac atrium is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0003212 GO:0003211 biolink:BiologicalProcess cardiac ventricle formation The developmental process pertaining to the initial formation of a cardiac ventricle from unspecified parts. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart. hp.json http://purl.obolibrary.org/obo/GO_0003211 GO:0003214 biolink:BiologicalProcess cardiac left ventricle morphogenesis The process in which the left cardiac ventricle is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0003214 GO:0005874 biolink:CellularComponent microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. Wikipedia:Microtubule|NIF_Subcellular:sao1846835077 hp.json neurotubule|microtubuli|microtubulus http://purl.obolibrary.org/obo/GO_0005874 goslim_metagenomics GO:0003213 biolink:BiologicalProcess cardiac right atrium morphogenesis The process in which the right cardiac atrium is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0003213 GO:0003210 biolink:BiologicalProcess cardiac atrium formation The developmental process pertaining to the initial formation of a cardiac atrium from unspecified parts. A cardiac atrium receives blood from a vein and pumps it to a cardiac ventricle. hp.json http://purl.obolibrary.org/obo/GO_0003210 HP:0002553 biolink:PhenotypicFeature Highly arched eyebrow Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. UMLS:C1868571|UMLS:C4020849 hp.json Highly arched eyebrow|Broad, arched eyebrows|High arched eyebrows|High-arched eyebrows|Bowed and upward slanting eyebrows|Arched eyebrows|Thick, flared eyebrows|High, rounded eyebrows http://purl.obolibrary.org/obo/HP_0002553 hposlim_core HP:0002552 biolink:PhenotypicFeature Trichodysplasia Developmental dysplasia of the hair. UMLS:C4020850|UMLS:C4025700 hp.json Generalised trichodysplasia|Generalized trichodysplasia http://purl.obolibrary.org/obo/HP_0002552 HP:0002557 biolink:PhenotypicFeature Hypoplastic nipples Underdevelopment of the nipple. SNOMEDCT_US:268290005|UMLS:C0432355 hp.json Nipple hypoplasia|Small nipples http://purl.obolibrary.org/obo/HP_0002557 HP:0002558 biolink:PhenotypicFeature Supernumerary nipple Presence of more than two nipples. UMLS:C0266011|Fyler:4234|MSH:C562557|SNOMEDCT_US:50956007 hp.json Accessory nipple|accessory mamilla|Accessory nipples|Increased nipple number|accessory mamillas|Supernumerary nipples http://purl.obolibrary.org/obo/HP_0002558 hposlim_core HP:0002555 biolink:PhenotypicFeature Absent pubic hair Absence of pubic hair. UMLS:C1859391 hp.json Absent pubic hair http://purl.obolibrary.org/obo/HP_0002555 hposlim_core HP:0002550 biolink:PhenotypicFeature Absent facial hair Absence of facial hair. UMLS:C1848192 hp.json Absent facial hair http://purl.obolibrary.org/obo/HP_0002550 GO:0003219 biolink:BiologicalProcess cardiac right ventricle formation The developmental process pertaining to the initial formation of a right cardiac ventricle from unspecified parts. hp.json http://purl.obolibrary.org/obo/GO_0003219 GO:0003229 biolink:BiologicalProcess ventricular cardiac muscle tissue development The process whose specific outcome is the progression of ventricular cardiac muscle over time, from its formation to the mature structure. hp.json ventricular myocardium development http://purl.obolibrary.org/obo/GO_0003229 GO:0003228 biolink:BiologicalProcess atrial cardiac muscle tissue development The process whose specific outcome is the progression of cardiac muscle of the atrium over time, from its formation to the mature structure. hp.json atrial myocardium development http://purl.obolibrary.org/obo/GO_0003228 GO:0005886 biolink:CellularComponent plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. Wikipedia:Cell_membrane|NIF_Subcellular:sao1663586795 hp.json bacterial inner membrane|cytoplasmic membrane|plasma membrane lipid bilayer|cellular membrane|plasmalemma|juxtamembrane|inner endospore membrane|cell membrane http://purl.obolibrary.org/obo/GO_0005886 goslim_generic|goslim_agr|goslim_candida|goslim_yeast|prokaryote_subset|goslim_plant|goslim_drosophila|goslim_chembl|goslim_metagenomics|goslim_aspergillus|goslim_mouse GO:0005884 biolink:NamedThing actin filament hp.json http://purl.obolibrary.org/obo/GO_0005884 GO:0005882 biolink:NamedThing intermediate filament hp.json http://purl.obolibrary.org/obo/GO_0005882 GO:0005880 biolink:CellularComponent nuclear microtubule Any microtubule in the nucleus of a cell. hp.json http://purl.obolibrary.org/obo/GO_0005880 GO:0003221 biolink:BiologicalProcess right ventricular cardiac muscle tissue morphogenesis The process in which the anatomical structures of the right cardiac ventricle muscle are generated and organized. hp.json right ventricle myocardium morphogenesis http://purl.obolibrary.org/obo/GO_0003221 GO:0003220 biolink:BiologicalProcess left ventricular cardiac muscle tissue morphogenesis The process in which the anatomical structures of left cardiac ventricle muscle are generated and organized. hp.json left ventricular myocardium morphogenesis http://purl.obolibrary.org/obo/GO_0003220 GO:0005881 biolink:CellularComponent cytoplasmic microtubule Any microtubule in the cytoplasm of a cell. hp.json non-spindle-associated astral microtubule http://purl.obolibrary.org/obo/GO_0005881 HP:0002564 biolink:PhenotypicFeature obsolete Malformation of the heart and great vessels hp.json http://purl.obolibrary.org/obo/HP_0002564 HP:0002562 biolink:PhenotypicFeature Low-set nipples Placement of the nipples at a lower than normal location. UMLS:C1836933 hp.json Low-set nipples http://purl.obolibrary.org/obo/HP_0002562 hposlim_core HP:0002563 biolink:PhenotypicFeature Constrictive pericarditis Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium. UMLS:C0031048|MSH:D010494|SNOMEDCT_US:85598007 hp.json http://purl.obolibrary.org/obo/HP_0002563 HP:0002566 biolink:PhenotypicFeature Intestinal malrotation An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. SNOMEDCT_US:253789002|MSH:C562456|SNOMEDCT_US:29980002|SNOMEDCT_US:48641006|UMLS:C0221210|MEDDRA:10064024 hp.json Malrotation|Gut malrotation http://purl.obolibrary.org/obo/HP_0002566 hposlim_core HP:0002561 biolink:PhenotypicFeature Absent nipple Congenital failure to develop, and absence of, the nipple. SNOMEDCT_US:248820000|UMLS:C0425795 hp.json Athelia|Absent nipple|Absent nipples http://purl.obolibrary.org/obo/HP_0002561 CL:1000692 biolink:Cell kidney interstitial fibroblast KUPO:0001102 hp.json http://purl.obolibrary.org/obo/CL_1000692 HP:0002705 biolink:PhenotypicFeature High, narrow palate The presence of a high and narrow palate. UMLS:C1837404 hp.json Narrow, highly arched roof of mouth|Gothic palate|Narrow, high-arched palate|Narrow, high-arched roof of mouth|Narrow and high arched palate|Narrow, highly arched palate|High narrow palate|High vaulted palate|High, narrow palate http://purl.obolibrary.org/obo/HP_0002705 HP:0002703 biolink:PhenotypicFeature Abnormality of skull ossification An abnormality of the process of ossification of the skull. UMLS:C4280553|UMLS:C4280552|UMLS:C4280551|UMLS:C4280550|UMLS:C4025686 hp.json Abnormality of bone mineralization of cranium|Abnormality of bone calcification of calvarium|Abnormality of bone calcification of cranium|Abnormality of skull bone formation|Abnormality of bone mineralization of skull|Abnormality of bone formation of calvarium|Abnormality of ossification of calvarium|Abnormality of ossification of cranium|Abnormality of bone calcification of skull|Abnormality of bone mineralization of calvarium|Abnormality of bone formation of cranium http://purl.obolibrary.org/obo/HP_0002703 HP:0002708 biolink:PhenotypicFeature Prominent median palatal raphe Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. UMLS:C1845108 hp.json Prominent central ridge on roof of the mouth|Prominent central palatal ridge|Prominent medial palatal suture http://purl.obolibrary.org/obo/HP_0002708 HP:0002707 biolink:PhenotypicFeature Palate telangiectasia The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. UMLS:C4280267|UMLS:C1857699 hp.json Palatal telangiectasia|Palate telangiectases|Telangiectasia of the roof of the mouth|Palate teleangiectases|Spider veins of the roof of the mouth|Palatal angioectasia|Palatal spider veins http://purl.obolibrary.org/obo/HP_0002707 HP:0002700 biolink:PhenotypicFeature Large foramen magnum An abnormal increase in the size of the foramen magnum. UMLS:C4280555|UMLS:C4280554|UMLS:C1844508|UMLS:C4073291 hp.json Increased diameter of foramen magnum|Dilation of foramen magnum|Enlarged foramen magnum|Increased circumference of foramen magnum|Big foramen magnum|Wide foramen magnum http://purl.obolibrary.org/obo/HP_0002700 hposlim_core HP:0002737 biolink:PhenotypicFeature Thick skull base UMLS:C1839507 hp.json Thick skull base|Increased thickness of skull base|Increased thickness of bone of skull base http://purl.obolibrary.org/obo/HP_0002737 HP:0002738 biolink:PhenotypicFeature Hypoplastic frontal sinuses Underdevelopment of frontal sinus. UMLS:C1859682|UMLS:C4280549|UMLS:C4280548 hp.json Decreased pneumatization of frontal sinus|Decreased volume of frontal sinuses|Hypotrophic frontal sinus|Underdeveloped frontal sinuses|Small frontal sinuses http://purl.obolibrary.org/obo/HP_0002738 HP:0002730 biolink:PhenotypicFeature Chronic noninfectious lymphadenopathy A chronic form of lymphadenopathy that is not related to infection. UMLS:C1858970 hp.json http://purl.obolibrary.org/obo/HP_0002730 HP:0002733 biolink:PhenotypicFeature Abnormality of the lymph nodes A lymph node abnormality. UMLS:C0149727 hp.json Abnormality of the lymph nodes|Abnormal lymph node histology http://purl.obolibrary.org/obo/HP_0002733 HP:0002731 biolink:PhenotypicFeature Decreased lymphocyte apoptosis A reduction in the rate of apoptosis in lymphocytes. UMLS:C1858969 hp.json Defective lymphocyte apoptosis http://purl.obolibrary.org/obo/HP_0002731 HP:0002732 biolink:PhenotypicFeature Lymph node hypoplasia Underdevelopment of the lymph nodes. UMLS:C4025683|UMLS:C1865377 hp.json Small lymph nodes http://purl.obolibrary.org/obo/HP_0002732 HP:0002748 biolink:PhenotypicFeature Rickets Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. SNOMEDCT_US:41345002|MSH:D012279|UMLS:C0035579 hp.json Weak and soft bones http://purl.obolibrary.org/obo/HP_0002748 HP:0002749 biolink:PhenotypicFeature Osteomalacia Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. UMLS:C0029442|SNOMEDCT_US:4598005 hp.json Softening of the bones http://purl.obolibrary.org/obo/HP_0002749 HP:0002747 biolink:PhenotypicFeature Respiratory insufficiency due to muscle weakness UMLS:C3806467 hp.json Respiratory failure due to muscle weakness|Decreased respiratory function due to muscle weakness|Decreased lung function due to weak breathing muscles|Respiratory muscle weakness|Respiratory distress due to muscle weakness http://purl.obolibrary.org/obo/HP_0002747 HP:0002740 biolink:PhenotypicFeature Recurrent E. coli infections Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent. UMLS:C0014836|MSH:D004927|SNOMEDCT_US:71057007 hp.json E coli infections|E coli infections, recurrent http://purl.obolibrary.org/obo/HP_0002740 HP:0002741 biolink:PhenotypicFeature Recurrent Serratia marcescens infections Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection. UMLS:C4025682 hp.json http://purl.obolibrary.org/obo/HP_0002741 HP:0002744 biolink:PhenotypicFeature Bilateral cleft lip and palate Cleft lip and cleft palate affecting both sides of the face. SNOMEDCT_US:1085331000119107|UMLS:C1398522 hp.json Bilateral cleft lip and cleft palate|Right and left cleft lip and palate http://purl.obolibrary.org/obo/HP_0002744 HP:0002745 biolink:PhenotypicFeature Oral leukoplakia A thickened white patch on the oral mucosa that cannot be rubbed off. UMLS:C0023532|SNOMEDCT_US:414603003|MSH:D007972|MSH:D007971|SNOMEDCT_US:9187004|UMLS:C1704317 hp.json Oral white plaque|Oral leucoplakia|Oral leukoplasia|Oral idiopathic white patch|Oral idiopathic leukoplakia|leukokeratosis|Oral white patch|Oral idiopathic keratosis|Oral leukokeratosis http://purl.obolibrary.org/obo/HP_0002745 hposlim_core HP:0002742 biolink:PhenotypicFeature Recurrent Klebsiella infections Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection. UMLS:C4021751 hp.json Klebsiella infections, recurrent http://purl.obolibrary.org/obo/HP_0002742 HP:0002743 biolink:PhenotypicFeature Recurrent enteroviral infections Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. UMLS:C4025681 hp.json http://purl.obolibrary.org/obo/HP_0002743 HP:0002715 biolink:PhenotypicFeature Abnormality of the immune system An abnormality of the immune system. UMLS:C4021753 hp.json Immunological abnormality|Abnormality of the immune system http://purl.obolibrary.org/obo/HP_0002715 HP:0002716 biolink:PhenotypicFeature Lymphadenopathy Enlargment (swelling) of a lymph node. UMLS:C0497156|MSH:D000072281|SNOMEDCT_US:30746006 hp.json Swollen lymph nodes|Lymph node hyperplasia http://purl.obolibrary.org/obo/HP_0002716 HP:0002714 biolink:PhenotypicFeature Downturned corners of mouth A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. UMLS:C1866195 hp.json Downturned corners of mouth|Downturned mouth|Downturned oral commisures|Downturned corners of the mouth http://purl.obolibrary.org/obo/HP_0002714 hposlim_core HP:0002719 biolink:PhenotypicFeature Recurrent infections Increased susceptibility to infections. UMLS:C0239998 hp.json Susceptibility to infection|Frequent infections|infections, recurrent|Increased frequency of infection|Recurrent infections|Frequent, severe infections|Predisposition to infections http://purl.obolibrary.org/obo/HP_0002719 HP:0002717 biolink:PhenotypicFeature Adrenal overactivity UMLS:C4025685 hp.json http://purl.obolibrary.org/obo/HP_0002717 HP:0002718 biolink:PhenotypicFeature Recurrent bacterial infections Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. UMLS:C4020846|SNOMEDCT_US:428875002|UMLS:C1844383|UMLS:C2748958 hp.json Frequent pyogenic infections|Recurrent bacterial infections|Susceptibility to pyogenic infection|Prone to bacterial infection|Frequent bacterial infections|Recurrent pyogenic infections|Recurrent major bacterial infections|Bacterial infections, recurrent|Increased susceptibility to bacterial infections http://purl.obolibrary.org/obo/HP_0002718 HP:0002711 biolink:PhenotypicFeature Exaggerated median tongue furrow Increased depth of the median tongue furrow. UMLS:C1845109 hp.json Deep central lingual furrow|Deep central lingual groove|Deep central tongue furrow|Deep median tongue groove|Deep central tongue groove|Deep median lingual groove|Deep median tongue furrow|Exaggerated median lingual furrow|Deep median lingual furrow http://purl.obolibrary.org/obo/HP_0002711 HP:0002710 biolink:PhenotypicFeature Commissural lip pit A depression located at an oral commissure. UMLS:C0399605 hp.json Commissural pit|Commissural labial pits|Lip pits at corners of the mouth|Pits at the corners of the lips http://purl.obolibrary.org/obo/HP_0002710 hposlim_core HP:0002726 biolink:PhenotypicFeature Recurrent Staphylococcus aureus infections Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection. UMLS:C2673462 hp.json Staphylococcus aureus infections, recurrent http://purl.obolibrary.org/obo/HP_0002726 HP:0002724 biolink:PhenotypicFeature Recurrent Aspergillus infections An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. UMLS:C4021752 hp.json Aspergillus infections, recurrent http://purl.obolibrary.org/obo/HP_0002724 HP:0002725 biolink:PhenotypicFeature Systemic lupus erythematosus A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. UMLS:C0024141|SNOMEDCT_US:55464009|MSH:D008180 hp.json SLE http://purl.obolibrary.org/obo/HP_0002725 HP:0002728 biolink:PhenotypicFeature Chronic mucocutaneous candidiasis Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. SNOMEDCT_US:234568006|MSH:D002178|UMLS:C0006845 hp.json Mucocutaneous candidiasis|Chronic candidiasis of mucosa, skin and nails http://purl.obolibrary.org/obo/HP_0002728 HP:0002729 biolink:PhenotypicFeature Follicular hyperplasia Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. UMLS:C4014733 hp.json http://purl.obolibrary.org/obo/HP_0002729 HP:0002722 biolink:PhenotypicFeature Recurrent abscess formation An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. UMLS:C4025684 hp.json http://purl.obolibrary.org/obo/HP_0002722 HP:0002723 biolink:PhenotypicFeature Absence of bactericidal oxidative respiratory burst in phagocytes An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. UMLS:C1844385 hp.json http://purl.obolibrary.org/obo/HP_0002723 HP:0002720 biolink:PhenotypicFeature Decreased circulating IgA level Decreased levels of immunoglobulin A (IgA). SNOMEDCT_US:29260007|MSH:D017098|UMLS:C0162538 hp.json Gamma-A globulin deficiency|Reduced IgA levels|Decreased immunoglobulin A|Decreased IgA|Low levels of immunoglobulin A|IgA deficiency http://purl.obolibrary.org/obo/HP_0002720 HP:0002721 biolink:PhenotypicFeature Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. MSH:D007153|SNOMEDCT_US:234532001|UMLS:C0021051 hp.json Decreased immune function|Immune deficiency http://purl.obolibrary.org/obo/HP_0002721 UBERON:0034994 biolink:AnatomicalEntity hindbrain cortical intermediate zone EMAPA:32917|DHBA:12682 hp.json hindbrain mantle layer http://purl.obolibrary.org/obo/UBERON_0034994 UBERON:0034995 biolink:AnatomicalEntity jaw mesenchyme Mesenchyme that is part of a developing jaw [Automatically generated definition]. EMAPA:32907|EMAPA:35454 hp.json http://purl.obolibrary.org/obo/UBERON_0034995 UBERON:0007376 biolink:AnatomicalEntity outer epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. FBbt:00004993|BTO:0000313|WBbt:0005733|Wikipedia:Epidermis_(zoology)|BSA:0000073|HAO:0000298|TADS:0000109 hp.json epidermis|hypodermis|outer epithelial layer|outer epidermal layer|hypoderm|epidermis (sensu Metazoa) http://purl.obolibrary.org/obo/UBERON_0007376 grouping_class UBERON:0007375 biolink:AnatomicalEntity roof of mouth A multi-tissue structure consisting of bone and soft tissue that forms a part of the roof of the oral cavity. In mammals this is the combination of the primary palate (premaxilla) and the secondary palate. In early tetrapods it consists of the vomer, pterygoid, parasphenoid, palatine and ectopterygoid bones. CALOHA:TS-2212 hp.json roof of buccal cavity|roof of oral cavity|palatum|palate|primary or secondary palate http://purl.obolibrary.org/obo/UBERON_0007375 grouping_class UBERON:0007374 biolink:AnatomicalEntity incus cartilage element An incus endochondral element that is composed primarily of cartilage tissue. EMAPA:18228 hp.json http://purl.obolibrary.org/obo/UBERON_0007374 UBERON:0007373 biolink:AnatomicalEntity inferior surface of tongue The lower (inferior) side of the tongue. FMA:54648 hp.json ventral surface of tongue|ventrum linguae http://purl.obolibrary.org/obo/UBERON_0007373 UBERON:0007371 biolink:AnatomicalEntity superior surface of tongue The upper (superior) side of the tongue. FMA:54646 hp.json dorsal surface of tongue http://purl.obolibrary.org/obo/UBERON_0007371 UBERON:0020358 biolink:AnatomicalEntity accessory XI nerve nucleus The spinal accessory nucleus lies within the cervical spinal cord (C1-C5) in the ventral horn. The nucleus ambiguus is classically said to provide the 'cranial component' of the accessory nerve. However, the very existence of this cranial component has been recently questioned and seen as contributing exclusively to the vagus nerve. The terminology continues to be used in describing both human anatomy, and that of other animals. EMAPA:37067|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2003|FMA:83965|MA:0001033|Wikipedia:Spinal_accessory_nucleus hp.json accessory nucleus of anterior column of spinal cord|accessory neural nucleus|nucleus of the spinal accessory nerve|spinal accessory nucleus|spinal accessory nucleus|nucleus of the accessory nerve|nucleus of accessory nerve|nucleus nervi accessorii|nucleus accessorius columnae anterioris medullae spinalis http://purl.obolibrary.org/obo/UBERON_0020358 UBERON:0007367 biolink:AnatomicalEntity surface of tongue An anatomical surface that is part of a tongue. FMA:54647|SCTID:314870004 hp.json tongue surface http://purl.obolibrary.org/obo/UBERON_0007367 CHEBI:32952 biolink:ChemicalSubstance amine A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. KEGG:C00706 hp.json Substituted amine|Amin|amines|Amine http://purl.obolibrary.org/obo/CHEBI_32952 3_STAR PR:000002062 biolink:Protein macrophage colony-stimulating factor 1 receptor A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. PIRSF:PIRSF500947|IUPHARobj:1806 hp.json M-CSF-R|CSF-1R|CSF1R|proto-oncogene c-Fms|CD115|CSF-1 receptor|FMS|Csfmr|CSF-1-R http://purl.obolibrary.org/obo/PR_000002062 CHEBI:32926 biolink:ChemicalSubstance octadecane A straight-chain alkane carrying 18 carbon atoms. KNApSAcK:C00030879|CAS:593-45-3|Gmelin:263389|Reaxys:1740138|Beilstein:1740138|CAS:593-45-3|PMID:9842728 hp.json octadecane|CH3-[CH2]16-CH3|Oktadekan|n-octadecane http://purl.obolibrary.org/obo/CHEBI_32926 3_STAR UBERON:0007355 biolink:AnatomicalEntity bony part of pharyngotympanic tube The bony part of pharyngotympanic tube is about 12 mm. in length. It begins in the carotid wall of the tympanic cavity, below the septum canalis musculotubarii, and, gradually narrowing, ends at the angle of junction of the squama and the petrous portion of the temporal bone, its extremity presenting a jagged margin which serves for the attachment of the cartilaginous portion. FMA:60057 hp.json bony part of auditory tube|pars ossea (tuba auditiva)|bony part of eustachian tube|pars ossea (tuba auditoria)|osseous portion|pars ossea tubae auditivae|osseous portion of eustachian tube http://purl.obolibrary.org/obo/UBERON_0007355 UBERON:0007354 biolink:AnatomicalEntity cartilage of pharyngotympanic tube A triangular plate of elastic fibrocartilage that forms the cartilage component of the pharyngotympanic tube. FMA:60096 hp.json cartilage of eustachian tube|cartilago tubae auditivae|pharyngotympanic tube cartilage|cartilago tubae auditoriae|cartilago tubae auditivae; cartilago tubae auditoriae|cartilage of auditory tube http://purl.obolibrary.org/obo/UBERON_0007354 UBERON:0010996 biolink:AnatomicalEntity articular cartilage of joint A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. NCIT:C32144|UMLS:C0007303|galen:ArticularCartilage|AEO:0000179|EMAPA:35149|BTO:0001572|FMA:12264|CALOHA:TS-0055|EFO:0001902|GAID:101|MA:0000487|MESH:D002358 hp.json hyaline cartilage|cartilago articularis|articular cartilage|joint-associated cartilage http://purl.obolibrary.org/obo/UBERON_0010996 pheno_slim|human_reference_atlas|efo_slim|uberon_slim|vertebrate_core CHEBI:17325 biolink:ChemicalSubstance 3-hydroxy-3-methylglutarate(2-) A dicarboxylic acid dianion that results from the removal of a proton from both of the carboxylic acid groups of 3-hydroxy-3-methylglutaric acid. MetaCyc:CPD-547|KEGG:C03761 hp.json 3-hydroxy-3-methylpentanedioate|3-hydroxy-3-methylglutarate http://purl.obolibrary.org/obo/CHEBI_17325 3_STAR NCBITaxon:207598 biolink:OrganismalEntity Homininae hp.json http://purl.obolibrary.org/obo/NCBITaxon_207598 UBERON:0010986 biolink:AnatomicalEntity serratus ventralis pre-muscle mass EHDAA:5992|EHDAA2:0001833 hp.json serratus anterior pre-muscle mass http://purl.obolibrary.org/obo/UBERON_0010986 PR:000002065 biolink:Protein mast/stem cell growth factor receptor A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. IUPHARobj:1805|PIRSF:PIRSF500951 hp.json KIT|CD117|tyrosine-protein kinase Kit|SCFR|proto-oncogene c-Kit|Sl http://purl.obolibrary.org/obo/PR_000002065 UBERON:0010984 biolink:AnatomicalEntity pectoral pre-muscle mass EHDAA2:0001423 hp.json http://purl.obolibrary.org/obo/UBERON_0010984 CHEBI:78295 biolink:ChemicalSubstance food component Any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. hp.json dietary components|dietary component|food components http://purl.obolibrary.org/obo/CHEBI_78295 3_STAR CHEBI:78298 biolink:ChemicalSubstance environmental contaminant Any minor or unwanted substance introduced into the environment that can have undesired effects. hp.json environmental contaminants http://purl.obolibrary.org/obo/CHEBI_78298 3_STAR UBERON:0034944 biolink:AnatomicalEntity zone of organ FMA:55268 hp.json organ zonal region|organ zone|organ sector|organ region with floating fiat boundary http://purl.obolibrary.org/obo/UBERON_0034944 UBERON:0034945 biolink:AnatomicalEntity excreted gas Any gaseous product of an excretory process. hp.json http://purl.obolibrary.org/obo/UBERON_0034945 UBERON:0034946 biolink:AnatomicalEntity gas excreted from digestive tract Any excreted gas that is produced by the digestive tract. FMA:78440 hp.json flatus|intestinal gas|flatulence|flatus http://purl.obolibrary.org/obo/UBERON_0034946 UBERON:0034947 biolink:AnatomicalEntity gas in respiratory system Any portion of gas located in a part of the respiratory system. hp.json respiratory system gas|respiratory gas http://purl.obolibrary.org/obo/UBERON_0034947 UBERON:0034948 biolink:AnatomicalEntity carbon dioxide in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of carbon dioxide. hp.json respiratory CO2|respiratory system CO2 http://purl.obolibrary.org/obo/UBERON_0034948 UBERON:0034953 biolink:AnatomicalEntity embryonic lymph sac A population of lymphatic endothelial cell precursors that will form the lymph vessels. NCIT:C34262 hp.json primary lymph sac http://purl.obolibrary.org/obo/UBERON_0034953 UBERON:0007391 biolink:AnatomicalEntity pelvic appendage cartilage tissue A cartilage tissue that is part of a pelvic appendage. ZFA:0001459|TAO:0001459 hp.json pelvic fin cartilage http://purl.obolibrary.org/obo/UBERON_0007391 UBERON:0007390 biolink:AnatomicalEntity pectoral appendage cartilage tissue A cartilage tissue that is part of a pectoral appendage. ZFA:0000257|TAO:0000257 hp.json pectoral fin cartilage http://purl.obolibrary.org/obo/UBERON_0007390 UBERON:0034969 biolink:AnatomicalEntity epithelial layer of duct NCIT:C25787|UMLS:C1512086 hp.json ductal epithelium|duct epithelium http://purl.obolibrary.org/obo/UBERON_0034969 CHEBI:305790 biolink:ChemicalSubstance thyroxine zwitterion The amino acid zwitterion formed from thyroxine by transfer of a proton from the carboxy group to the amino group. Major species at pH 7.3. hp.json 2-Amino-3-[4-(4-hydroxy-3,5-diiodo-phenoxy)-3,5-diiodo-phenyl]-propionate|thyroxine|(2S)-2-azaniumyl-3-[4-(4-hydroxy-3,5-diiodophenoxy)-3,5-diiodophenyl]propanoate http://purl.obolibrary.org/obo/CHEBI_305790 3_STAR UBERON:0007389 biolink:AnatomicalEntity paired limb/fin cartilage A cartilage tissue that is part of a paired limb or fin. ZFA:0001543|TAO:0001543 hp.json http://purl.obolibrary.org/obo/UBERON_0007389 homology_grouping UBERON:0007386 biolink:AnatomicalEntity pelvic appendage lymph vessel A lymphatic vessel that is part of a pelvic appendage. hp.json http://purl.obolibrary.org/obo/UBERON_0007386 UBERON:0007385 biolink:AnatomicalEntity pectoral appendage lymph vessel A lymphatic vessel that is part of a pectoral appendage. TAO:0005302|ZFA:0005302 hp.json http://purl.obolibrary.org/obo/UBERON_0007385 UBERON:0007384 biolink:AnatomicalEntity appendage lymph vessel A lymphatic vessel that is part of a limb/fin. TAO:0005300|ZFA:0005300 hp.json http://purl.obolibrary.org/obo/UBERON_0007384 UBERON:4100117 biolink:AnatomicalEntity presacral rib Rib located anterior to the sacral region. hp.json http://purl.obolibrary.org/obo/UBERON_4100117 UBERON:0007383 biolink:AnatomicalEntity enveloping layer of ectoderm Outermost layer of cells surrounding the embryo. TAO:0000086|ZFA:0000086|EFO:0003425 hp.json EVL|enveloping layer http://purl.obolibrary.org/obo/UBERON_0007383 efo_slim GO:0003315 biolink:BiologicalProcess heart rudiment formation The developmental process pertaining to the initial formation of the heart rudiment. hp.json heart cone formation http://purl.obolibrary.org/obo/GO_0003315 HP:0012066 biolink:PhenotypicFeature Increased urinary disaccharide excretion Increased concentration of disaccharide in the urine. UMLS:C4023062 hp.json http://purl.obolibrary.org/obo/HP_0012066 GO:0005978 biolink:NamedThing glycogen biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0005978 CHEBI:17272 biolink:ChemicalSubstance propionate The conjugate base of propionic acid; a key precursor in lipid biosynthesis. Beilstein:3587503|CAS:72-03-7|PMID:2647392|Gmelin:1820|KEGG:C00163|PMID:18375549|CAS:72-03-7|UM-BBD_compID:c0277|PMID:17951291 hp.json EtCO2 anion|propanoic acid, ion(1-)|ethanecarboxylate|metacetonate|propanoate|propionate|pseudoacetate|propanoate|ethylformate|propanate|methylacetate|carboxylatoethane|CH3-CH2-COO(-) http://purl.obolibrary.org/obo/CHEBI_17272 3_STAR GO:0005979 biolink:NamedThing regulation of glycogen biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0005979 HP:0012067 biolink:PhenotypicFeature Glycopeptiduria Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. UMLS:C4023061 hp.json High urine glycopeptide levels http://purl.obolibrary.org/obo/HP_0012067 GO:0003314 biolink:BiologicalProcess heart rudiment morphogenesis The process in which the anatomical structures of the heart rudiment are generated and organized. hp.json heart cone morphogenesis http://purl.obolibrary.org/obo/GO_0003314 GO:0005976 biolink:BiologicalProcess polysaccharide metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. hp.json glycan metabolic process|glycan metabolism|polysaccharide metabolism|multicellular organismal polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005976 goslim_pir HP:0012068 biolink:PhenotypicFeature Aspartylglucosaminuria Excretion of excess amounts of aspartylglucosamine in the urine. MSH:D054880|UMLS:C0268225|SNOMEDCT_US:54954004 hp.json High urine aspartylglucosamine levels http://purl.obolibrary.org/obo/HP_0012068 HP:0012069 biolink:PhenotypicFeature Keratan sulfate excretion in urine An increased concentration of keratan sulfate in the urine. UMLS:C4023060 hp.json Keratan sulphate excretion in urine http://purl.obolibrary.org/obo/HP_0012069 GO:0005977 biolink:NamedThing glycogen metabolic process hp.json http://purl.obolibrary.org/obo/GO_0005977 GO:0005975 biolink:BiologicalProcess carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Wikipedia:Carbohydrate_metabolism hp.json carbohydrate metabolism http://purl.obolibrary.org/obo/GO_0005975 goslim_drosophila|goslim_aspergillus|goslim_chembl|goslim_metagenomics|goslim_yeast|goslim_agr|goslim_candida|goslim_generic|prokaryote_subset|goslim_pombe|goslim_pir|goslim_plant GO:0003313 biolink:BiologicalProcess heart rudiment development The progression of the heart rudiment over time, from its initial formation to the mature structure. The heart rudiment is a cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. hp.json heart cone development http://purl.obolibrary.org/obo/GO_0003313 HP:0012060 biolink:PhenotypicFeature Acral lentiginous melanoma A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. SNOMEDCT_US:16974005|UMLS:C0346037|SNOMEDCT_US:254732008 hp.json http://purl.obolibrary.org/obo/HP_0012060 HP:0012061 biolink:PhenotypicFeature Urinary excretion of sialylated oligosaccharides Excretion of oligosaccharides conjugated to sialic acid in the urine. UMLS:C2673302 hp.json Increased urinary sialyloligosaccharides http://purl.obolibrary.org/obo/HP_0012061 HP:0012062 biolink:PhenotypicFeature Bone cyst A fluid filled cavity that develops with a bone. MSH:D001845|UMLS:C0005937|SNOMEDCT_US:203467005|SNOMEDCT_US:203465002|SNOMEDCT_US:66954000|SNOMEDCT_US:112643007 hp.json Bone cyst|Bone cysts http://purl.obolibrary.org/obo/HP_0012062 HP:0012063 biolink:PhenotypicFeature Aneurysmal bone cyst Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging. UMLS:C0152244|SNOMEDCT_US:203468000|SNOMEDCT_US:76000001|MSH:D017824 hp.json http://purl.obolibrary.org/obo/HP_0012063 HP:0012064 biolink:PhenotypicFeature Unicameral bone cyst A benign fluid filled simple cyst of bone filled with serous fluid. UMLS:C4082185|SNOMEDCT_US:203467005|SNOMEDCT_US:112643007 hp.json http://purl.obolibrary.org/obo/HP_0012064 HP:0012065 biolink:PhenotypicFeature Multiple bony cystic lesions Presence of multiple cystic changes in multiple areas or multiple bones. UMLS:C4023063 hp.json Multiple bony cystic lesions http://purl.obolibrary.org/obo/HP_0012065 HP:0000077 biolink:PhenotypicFeature Abnormality of the kidney An abnormality of the kidney. SNOMEDCT_US:90708001|MSH:D007674|SNOMEDCT_US:44513007|UMLS:C0022658|UMLS:C0266292 hp.json Abnormality of the kidney|Abnormal kidney|Renal anomaly|Renal anomalies http://purl.obolibrary.org/obo/HP_0000077 GO:0042923 biolink:MolecularActivity neuropeptide binding Interacting selectively and non-covalently and stoichiometrically with neuropeptides, peptides with direct synaptic effects (peptide neurotransmitters) or indirect modulatory effects on the nervous system (peptide neuromodulators). hp.json http://purl.obolibrary.org/obo/GO_0042923 HP:0000076 biolink:PhenotypicFeature Vesicoureteral reflux Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. SNOMEDCT_US:197811007|UMLS:C0042580|MSH:D014718|Fyler:4510 hp.json Vesico-ureteral reflux|Ureteric reflux|Ureteral reflux|Vesicoureteric reflux http://purl.obolibrary.org/obo/HP_0000076 HP:0000079 biolink:PhenotypicFeature Abnormality of the urinary system An abnormality of the urinary system. UMLS:C4021821 hp.json Urinary tract anomalies|Urinary tract abnormality|Urinary tract abnormalities http://purl.obolibrary.org/obo/HP_0000079 HP:0000078 biolink:PhenotypicFeature Abnormality of the genital system An abnormality of the genital system. UMLS:C0281966|UMLS:C0744356 hp.json Genital abnormalities|Genital defects|Genital anomalies|Abnormality of the reproductive system|Genital abnormality http://purl.obolibrary.org/obo/HP_0000078 UBERON:0007418 biolink:AnatomicalEntity neural decussation Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6). NCIT:C28351|FMA:83858|NLX:144064 hp.json chiasm|neuraxis decussation|decussation|decussation of neuraxis|neuraxis chiasm|neuraxis chiasma|chiasma http://purl.obolibrary.org/obo/UBERON_0007418 cumbo UBERON:0007417 biolink:AnatomicalEntity peduncle of neuraxis FMA:83860 hp.json neuraxis peduncle http://purl.obolibrary.org/obo/UBERON_0007417 HP:0000071 biolink:PhenotypicFeature Ureteral stenosis The presence of a stenotic, i.e., constricted ureter. SNOMEDCT_US:95574003|UMLS:C0521618 hp.json Narrowing of the ureter http://purl.obolibrary.org/obo/HP_0000071 HP:0000070 biolink:PhenotypicFeature Ureterocele A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. SNOMEDCT_US:12818004|MSH:D014518|UMLS:C0041960 hp.json http://purl.obolibrary.org/obo/HP_0000070 UBERON:0007416 biolink:AnatomicalEntity cerebellar peduncle Any of the three large paired bundles of nerve fibers that connect the cerebellum to the brain stem. NCIT:C88147|MBA:752|FMA:272298|UMLS:C0228515|EMAPA:35213|MA:0002742|BAMS:cbp hp.json cerebellum peduncle http://purl.obolibrary.org/obo/UBERON_0007416 pheno_slim HP:0000073 biolink:PhenotypicFeature Ureteral duplication A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. SNOMEDCT_US:49496001|UMLS:C0221365 hp.json Double ureter http://purl.obolibrary.org/obo/HP_0000073 HP:0000072 biolink:PhenotypicFeature Hydroureter The distention of the ureter with urine. UMLS:C0521620|SNOMEDCT_US:69758005|UMLS:C4020897|SNOMEDCT_US:95576001 hp.json Swelling of ureter|Megaureter|Ureteral dilatation|Uroureter|Wide ureter|Dilated ureter http://purl.obolibrary.org/obo/HP_0000072 UBERON:0007414 biolink:AnatomicalEntity nucleus of midbrain tegmentum A nucleus of brain that spans a midbrain tegmentum. FMA:258768|ZFA:0005577 hp.json tegmental nucleus|tegmental nuclei http://purl.obolibrary.org/obo/UBERON_0007414 HP:0000075 biolink:PhenotypicFeature Renal duplication A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. UMLS:C0266298|SNOMEDCT_US:30275001 hp.json Supernumerary kidney|Extra kidney http://purl.obolibrary.org/obo/HP_0000075 HP:0000074 biolink:PhenotypicFeature Ureteropelvic junction obstruction Blockage of urine flow from the renal pelvis to the proximal ureter. UMLS:C0521619|SNOMEDCT_US:95575002|MSH:C537373 hp.json Pelviureteric junction obstruction|Ureteropelvic junction stenosis http://purl.obolibrary.org/obo/HP_0000074 HP:0012055 biolink:PhenotypicFeature Ciliary body melanoma Malignant tumor of melanocytes of the ciliary body. SNOMEDCT_US:255015006|NCIT:C3224|UMLS:C0346379 hp.json http://purl.obolibrary.org/obo/HP_0012055 HP:0012056 biolink:PhenotypicFeature Cutaneous melanoma The presence of a melanoma of the skin. SNOMEDCT_US:372244006|MSH:D008545|NCIT:C3224|UMLS:C0025202|SNOMEDCT_US:2092003 hp.json http://purl.obolibrary.org/obo/HP_0012056 HP:0012057 biolink:PhenotypicFeature Superficial spreading melanoma A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown. UMLS:C0334438|SNOMEDCT_US:254730000|SNOMEDCT_US:55320002 hp.json http://purl.obolibrary.org/obo/HP_0012057 HP:0012058 biolink:PhenotypicFeature Nodular melanoma A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color. SNOMEDCT_US:2142002|UMLS:C0334424|SNOMEDCT_US:254731001 hp.json http://purl.obolibrary.org/obo/HP_0012058 HP:0012059 biolink:PhenotypicFeature Lentigo maligna melanoma A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging. SNOMEDCT_US:44474009|SNOMEDCT_US:302837001|UMLS:C2739810 hp.json http://purl.obolibrary.org/obo/HP_0012059 GO:0005981 biolink:NamedThing regulation of glycogen catabolic process hp.json http://purl.obolibrary.org/obo/GO_0005981 HP:0012050 biolink:PhenotypicFeature Anasarca An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. SNOMEDCT_US:16740003|MSH:D004487|UMLS:C0151603|SNOMEDCT_US:442433009 hp.json Extreme generalised oedema|Extreme generalized edema http://purl.obolibrary.org/obo/HP_0012050 GO:0005980 biolink:NamedThing glycogen catabolic process hp.json http://purl.obolibrary.org/obo/GO_0005980 HP:0012051 biolink:PhenotypicFeature Reactive hypoglycemia Hypoglycermia following a meal (or more generally, after intake of glucose). MSH:D007003|SNOMEDCT_US:237638000|SNOMEDCT_US:317006|UMLS:C0271710 hp.json Low blood sugar after a meal|Postprandial hypoglycemia http://purl.obolibrary.org/obo/HP_0012051 HP:0012052 biolink:PhenotypicFeature Low serum calcitriol A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. UMLS:C4023065 hp.json Low serum 1,25-dihydroxyvitamin D3|Low serum 1,25-dihydroxycholecalciferol http://purl.obolibrary.org/obo/HP_0012052 HP:0012053 biolink:PhenotypicFeature Decreased circulating calcifediol concentration A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. UMLS:C4023064 hp.json Decreased 25-hydroxyvitamin D3|Low serum 25-hydroxycholecalciferol|Low serum calcidiol|Low serum calcifediol http://purl.obolibrary.org/obo/HP_0012053 HP:0012054 biolink:PhenotypicFeature Choroidal melanoma Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented). NCIT:C3224|UMLS:C0346388|SNOMEDCT_US:255021005 hp.json http://purl.obolibrary.org/obo/HP_0012054 PR:000002001 biolink:Protein receptor-type tyrosine-protein kinase FLT3 A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human FLT3 gene or a 1:1 ortholog thereof. IUPHARobj:1807|PIRSF:PIRSF500949 hp.json tyrosine-protein kinase receptor FLT3|tyrosine-protein kinase FLT3|FLT3|FLT-3|FLK2|fetal liver kinase 2|Fms-like tyrosine kinase 3|stem cell tyrosine kinase 1|STK1|FL cytokine receptor|FLK-2|STK-1|CD135|tyrosine-protein kinase receptor flk-2 http://purl.obolibrary.org/obo/PR_000002001 HP:0000089 biolink:PhenotypicFeature Renal hypoplasia Hypoplasia of the kidney. SNOMEDCT_US:32659003|UMLS:C0266295 hp.json Hypoplastic kidney|Hypoplastic kidneys|Underdeveloped kidneys|Small kidneys http://purl.obolibrary.org/obo/HP_0000089 HP:0000080 biolink:PhenotypicFeature Abnormality of reproductive system physiology An abnormal functionality of the genital system. UMLS:C4021820|UMLS:C4020896 hp.json Genital functional abnormality|Abnormality of genital physiology|Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 CHEBI:17258 biolink:ChemicalSubstance 7H-purine The 7H-tautomer of purine. Beilstein:3200|Reaxys:3200|KEGG:C15587|Gmelin:601779|HMDB:HMDB0001366 hp.json 7H-purine|Purine|Purine base http://purl.obolibrary.org/obo/CHEBI_17258 3_STAR HP:0000081 biolink:PhenotypicFeature Duplicated collecting system A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. UMLS:C1858565 hp.json Double collecting system|Duplex collecting system|Duplicated renal collecting system|Double urinary collecting systems on intravenous pyelography http://purl.obolibrary.org/obo/HP_0000081 HP:0000083 biolink:PhenotypicFeature Renal insufficiency A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. UMLS:C1565489|MSH:D051437|UMLS:C0035078|SNOMEDCT_US:42399005|UMLS:C1839604|SNOMEDCT_US:236423003 hp.json Renal failure|Renal failure in adulthood http://purl.obolibrary.org/obo/HP_0000083 HP:0000086 biolink:PhenotypicFeature Ectopic kidney A developmental defect in which a kidney is located in an abnormal anatomic position. UMLS:C0238207|SNOMEDCT_US:16507009 hp.json Abnormal kidney location|Ectopic kidneys|Displaced kidney|Renal ectopia http://purl.obolibrary.org/obo/HP_0000086 HP:0000085 biolink:PhenotypicFeature Horseshoe kidney A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Fyler:4507|MSH:D000069337|UMLS:C0221353|SNOMEDCT_US:41729002 hp.json Horseshoe kidney|Horseshoe kidneys|Fused kidneys http://purl.obolibrary.org/obo/HP_0000085 HP:0012044 biolink:PhenotypicFeature Seesaw nystagmus Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. MSH:D009759|UMLS:C0344243|SNOMEDCT_US:95782001 hp.json http://purl.obolibrary.org/obo/HP_0012044 HP:0012045 biolink:PhenotypicFeature Retinal flecks Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. SNOMEDCT_US:247138002|UMLS:C0423414 hp.json http://purl.obolibrary.org/obo/HP_0012045 HP:0012046 biolink:PhenotypicFeature Areflexia of upper limbs Inability to elicit tendon reflexes in the upper limbs. UMLS:C2674177 hp.json http://purl.obolibrary.org/obo/HP_0012046 HP:0012047 biolink:PhenotypicFeature Hemeralopia A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. MSH:D014786|SNOMEDCT_US:399323001|UMLS:C0018975 hp.json Day blindness http://purl.obolibrary.org/obo/HP_0012047 HP:0012048 biolink:PhenotypicFeature Oromandibular dystonia A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. UMLS:C2242577 hp.json Cranial dystonia http://purl.obolibrary.org/obo/HP_0012048 HP:0012049 biolink:PhenotypicFeature Laryngeal dystonia A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. UMLS:C1963946|SNOMEDCT_US:3331000119108 hp.json Spasmodic dysphonia http://purl.obolibrary.org/obo/HP_0012049 HP:0012040 biolink:PhenotypicFeature Corneal stromal edema Abnormal accumulation of fluid and swelling of the stroma of cornea. UMLS:C0474444|SNOMEDCT_US:373430008 hp.json Corneal stromal oedema http://purl.obolibrary.org/obo/HP_0012040 HP:0012041 biolink:PhenotypicFeature Decreased fertility in males UMLS:C0151640 hp.json Decreased fertility in males http://purl.obolibrary.org/obo/HP_0012041 GO:0030917 biolink:BiologicalProcess midbrain-hindbrain boundary development The process whose specific outcome is the progression of the midbrain-hindbrain boundary over time, from its formation to the mature structure. The midbrain-hindbrain domain of the embryonic brain is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages. hp.json isthmic organizer development|MHB development|isthmomesencephalic boundary development|midbrain-hindbrain orgainizer development|isthmus development http://purl.obolibrary.org/obo/GO_0030917 HP:0012042 biolink:PhenotypicFeature Aspirin-induced asthma A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction. SNOMEDCT_US:407674008|UMLS:C1319853|MSH:D055963 hp.json Aspirin-induced asthma http://purl.obolibrary.org/obo/HP_0012042 HP:0012043 biolink:PhenotypicFeature Pendular nystagmus Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. UMLS:C0271388|MSH:D009759|UMLS:C4020734|SNOMEDCT_US:35743001 hp.json Nystagmus, continuous pendular|Nystagmus, pendular http://purl.obolibrary.org/obo/HP_0012043 HP:0000055 biolink:PhenotypicFeature Abnormality of female external genitalia An abnormality of the female external genitalia. UMLS:C4021822 hp.json Abnormal female external genitalia http://purl.obolibrary.org/obo/HP_0000055 HP:0000054 biolink:PhenotypicFeature Micropenis Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. SNOMEDCT_US:34911001|UMLS:C4551492 hp.json Small penis|Short penis http://purl.obolibrary.org/obo/HP_0000054 HP:0000057 biolink:PhenotypicFeature obsolete Clitoromegaly hp.json http://purl.obolibrary.org/obo/HP_0000057 HP:0000056 biolink:PhenotypicFeature Abnormality of the clitoris An abnormality of the clitoris. UMLS:C4025893 hp.json Abnormality of the clit http://purl.obolibrary.org/obo/HP_0000056 HP:0000059 biolink:PhenotypicFeature Hypoplastic labia majora Undergrowth of the outer labia. UMLS:C0566899|SNOMEDCT_US:289469003 hp.json Hypoplasia of labia majora|Small labia majora|Underdeveloped vaginal lips http://purl.obolibrary.org/obo/HP_0000059 HP:0000058 biolink:PhenotypicFeature Abnormal labia morphology An anomaly of the labia, the externally visible portions of the vulva. UMLS:C4025892 hp.json Abnormality of the labia http://purl.obolibrary.org/obo/HP_0000058 HP:0000051 biolink:PhenotypicFeature Perineal hypospadias Hypospadias with location of the urethral meatus in the perineal region. UMLS:C0452148|SNOMEDCT_US:204890004 hp.json http://purl.obolibrary.org/obo/HP_0000051 HP:0000050 biolink:PhenotypicFeature Hypoplastic male external genitalia Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). UMLS:C1852534 hp.json Underdeveloped male genitalia|Hypoplastic male genitalia|Small male external genitalia http://purl.obolibrary.org/obo/HP_0000050 HP:0000053 biolink:PhenotypicFeature Macroorchidism The presence of abnormally large testes. UMLS:C1263023 hp.json Large testicles|Large testis http://purl.obolibrary.org/obo/HP_0000053 HP:0000052 biolink:PhenotypicFeature Urethral atresia, male Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. UMLS:C4025894 hp.json http://purl.obolibrary.org/obo/HP_0000052 HP:0012033 biolink:PhenotypicFeature Sacral lipoma Presence of a lipoma in the region of the sacrum. UMLS:C4021835 hp.json http://purl.obolibrary.org/obo/HP_0012033 GO:0030901 biolink:BiologicalProcess midbrain development The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles). hp.json mesencephalon development http://purl.obolibrary.org/obo/GO_0030901 GO:0030902 biolink:BiologicalProcess hindbrain development The process whose specific outcome is the progression of the hindbrain over time, from its formation to the mature structure. The hindbrain is the posterior of the three primary divisions of the developing chordate brain, or the corresponding part of the adult brain (in vertebrates, includes the cerebellum, pons, and medulla oblongata and controls the autonomic functions and equilibrium). hp.json rhombencephalon development http://purl.obolibrary.org/obo/GO_0030902 HP:0012034 biolink:PhenotypicFeature Liposarcoma Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway. SNOMEDCT_US:49430005|SNOMEDCT_US:254829001|MSH:D008080|MPATH:418|UMLS:C0023827 hp.json http://purl.obolibrary.org/obo/HP_0012034 HP:0012035 biolink:PhenotypicFeature Steatocystoma multiplex Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). MSH:D062685|UMLS:C0259771|SNOMEDCT_US:109433009 hp.json http://purl.obolibrary.org/obo/HP_0012035 GO:0030900 biolink:BiologicalProcess forebrain development The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). hp.json prosencephalon development http://purl.obolibrary.org/obo/GO_0030900 HP:0012036 biolink:PhenotypicFeature Sternocleidomastoid amyotrophy Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head. UMLS:C4023067 hp.json http://purl.obolibrary.org/obo/HP_0012036 GO:0003300 biolink:BiologicalProcess cardiac muscle hypertrophy The enlargement or overgrowth of all or part of the heart muscle due to an increase in size of cardiac muscle cells without cell division. hp.json http://purl.obolibrary.org/obo/GO_0003300 HP:0012037 biolink:PhenotypicFeature Pectoralis amyotrophy Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. UMLS:C4023066 hp.json Wasting of pec muscles http://purl.obolibrary.org/obo/HP_0012037 HP:0012038 biolink:PhenotypicFeature Corneal guttata Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. UMLS:C0271288|SNOMEDCT_US:373424008 hp.json Corneal endothelial guttata http://purl.obolibrary.org/obo/HP_0012038 HP:0012039 biolink:PhenotypicFeature Descemet Membrane Folds Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea. SNOMEDCT_US:193821003|UMLS:C0155116 hp.json http://purl.obolibrary.org/obo/HP_0012039 GO:0003301 biolink:BiologicalProcess physiological cardiac muscle hypertrophy The enlargement or overgrowth of all or part of the heart muscle due to an increase in size of cardiac muscle cells without cell division. This process contributes to the developmental growth of the heart. hp.json http://purl.obolibrary.org/obo/GO_0003301 HP:0012030 biolink:PhenotypicFeature Increased urinary cortisol level Abnormally increased concentration of cortisol in the urine. UMLS:C4023068 hp.json High urine cortisol level http://purl.obolibrary.org/obo/HP_0012030 HP:0012031 biolink:PhenotypicFeature Lipomatous tumor MSH:D018205|SNOMEDCT_US:254831005|SNOMEDCT_US:115227001|MPATH:415|UMLS:C0206631|SNOMEDCT_US:254827004 hp.json Lipomatous tumour http://purl.obolibrary.org/obo/HP_0012031 GO:0030903 biolink:BiologicalProcess notochord development The process whose specific outcome is the progression of the notochord over time, from its formation to the mature structure. The notochord is a mesoderm-derived structure located ventral of the developing nerve cord. In vertebrates, the notochord serves as a core around which other mesodermal cells form the vertebrae. In the most primitive chordates, which lack vertebrae, the notochord persists as a substitute for a vertebral column. hp.json http://purl.obolibrary.org/obo/GO_0030903 HP:0012032 biolink:PhenotypicFeature Lipoma Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. MPATH:417|UMLS:C0023798|SNOMEDCT_US:46720004|MSH:D008067|SNOMEDCT_US:93163002|MEDDRA:10024612 hp.json Noncancerous fatty lump|Fatty lump http://purl.obolibrary.org/obo/HP_0012032 hposlim_core HP:0000066 biolink:PhenotypicFeature Labial hypoplasia UMLS:C1850325 hp.json Hypoplastic labia|Underdeveloped labia http://purl.obolibrary.org/obo/HP_0000066 HP:0000065 biolink:PhenotypicFeature Labial hypertrophy SNOMEDCT_US:16924008|UMLS:C0404531 hp.json Enlargement of the labia|Enlargement of the vaginal lips|Enlarged vaginal lips http://purl.obolibrary.org/obo/HP_0000065 HP:0000068 biolink:PhenotypicFeature Urethral atresia Congenital anomaly characterized by closure or failure to develop an opening in the urethra. UMLS:C1610065 hp.json Urethral opening absent|Absent urethral opening http://purl.obolibrary.org/obo/HP_0000068 HP:0000067 biolink:PhenotypicFeature Urethral atresia, female Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females. UMLS:C4025890 hp.json http://purl.obolibrary.org/obo/HP_0000067 HP:0000069 biolink:PhenotypicFeature Abnormality of the ureter An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. UMLS:C1840382 hp.json Ureter issue|Abnormality of the ureters|Ureteral anomalies http://purl.obolibrary.org/obo/HP_0000069 HP:0000060 biolink:PhenotypicFeature Clitoral hypoplasia Developmental hypoplasia of the clitoris. UMLS:C1844527 hp.json Underdeveloped clit|Hypoplastic clitoris|Small clitoris http://purl.obolibrary.org/obo/HP_0000060 HP:0000062 biolink:PhenotypicFeature Ambiguous genitalia A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. SNOMEDCT_US:21321009|UMLS:C0266362|MSH:D012734 hp.json Intersex genitalia|Ambiguous external genitalia at birth|Ambiguous external genitalia http://purl.obolibrary.org/obo/HP_0000062 HP:0000061 biolink:PhenotypicFeature Ambiguous genitalia, female Ambiguous genitalia in an individual with XX genetic gender. UMLS:C1859980|UMLS:C4025891 hp.json Atypical appearance of female genitals|Ambiguous genitalia due to virilization http://purl.obolibrary.org/obo/HP_0000061 HP:0000064 biolink:PhenotypicFeature Hypoplastic labia minora UMLS:C1849295 hp.json Underdeveloped inner lips http://purl.obolibrary.org/obo/HP_0000064 HP:0000063 biolink:PhenotypicFeature Fused labia minora Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. UMLS:C1837532 hp.json Fused inner lips http://purl.obolibrary.org/obo/HP_0000063 GO:0005930 biolink:CellularComponent axoneme The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. Wikipedia:Axoneme hp.json flagellum axoneme|cilium axoneme|flagellar axoneme|ciliary axoneme http://purl.obolibrary.org/obo/GO_0005930 goslim_pir CHEBI:32867 biolink:ChemicalSubstance D-prolinate An optically active form of prolinate having D-configuration. Gmelin:533350 hp.json D-prolinate|D-proline anion|(2R)-pyrrolidine-2-carboxylate http://purl.obolibrary.org/obo/CHEBI_32867 3_STAR CHEBI:29214 biolink:ChemicalSubstance sulfonic acid Gmelin:1404640 hp.json [SHO2(OH)]|HSHO3|sulphonic acid|Sulfonsaeure|acide sulfonique|hydridohydroxidodioxidosulfur|sulfonic acid http://purl.obolibrary.org/obo/CHEBI_29214 3_STAR CHEBI:32868 biolink:ChemicalSubstance D-prolinium An optically active form of prolinium having D-configuration. Gmelin:363492 hp.json (2R)-2-carboxypyrrolidinium|D-proline cation|D-prolinium http://purl.obolibrary.org/obo/CHEBI_32868 3_STAR CHEBI:32860 biolink:ChemicalSubstance valinium Gmelin:1651060 hp.json valinium|1-carboxy-2-methylpropan-1-aminium|valine cation|H2val(+) http://purl.obolibrary.org/obo/CHEBI_32860 3_STAR CHEBI:32862 biolink:ChemicalSubstance L-prolinate An optically active form of prolinate having L-configuration. Gmelin:82610|Beilstein:4307988|Reaxys:4307988 hp.json L-prolinate|L-proline anion|(2S)-pyrrolidine-2-carboxylate http://purl.obolibrary.org/obo/CHEBI_32862 3_STAR CHEBI:32864 biolink:ChemicalSubstance L-prolinium An optically active form of prolinium having L-configuration. Gmelin:363493 hp.json L-prolinium|L-proline cation|(2S)-2-carboxypyrrolidinium http://purl.obolibrary.org/obo/CHEBI_32864 3_STAR GO:0005938 biolink:CellularComponent cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. Wikipedia:Cell_cortex hp.json cell periphery|peripheral cytoplasm http://purl.obolibrary.org/obo/GO_0005938 goslim_yeast|goslim_candida|goslim_aspergillus HP:0012099 biolink:PhenotypicFeature Abnormality of circulating catecholamine level An abnormal catecholamine concentration in the blood. UMLS:C4021102 hp.json Catecholamine levels abnormal http://purl.obolibrary.org/obo/HP_0012099 CHEBI:32876 biolink:ChemicalSubstance tertiary amine A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups. KEGG:C02196 hp.json tertiary amines|R3N|tertiaeres Amin|Tertiary amine http://purl.obolibrary.org/obo/CHEBI_32876 3_STAR HP:0012091 biolink:PhenotypicFeature Abnormality of pancreas physiology An anomaly of the function of the pancreas. UMLS:C4023048 hp.json http://purl.obolibrary.org/obo/HP_0012091 CHEBI:32877 biolink:ChemicalSubstance primary amine A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group. KEGG:C00893|KEGG:C00375|KEGG:C02580 hp.json primary amines|R-NH2|primaeres Amin|Primary monoamine|RCH2NH2|Primary amine http://purl.obolibrary.org/obo/CHEBI_32877 3_STAR HP:0012092 biolink:PhenotypicFeature Abnormality of exocrine pancreas physiology A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. UMLS:C4021103 hp.json Abnormal exocrine pancreatic function http://purl.obolibrary.org/obo/HP_0012092 HP:0012093 biolink:PhenotypicFeature Abnormality of endocrine pancreas physiology A function abnormality of the endocrine pancreas. UMLS:C4023047 hp.json http://purl.obolibrary.org/obo/HP_0012093 CHEBI:32879 biolink:ChemicalSubstance propane Gmelin:25044|CAS:74-98-6|Beilstein:1730718|CAS:74-98-6 hp.json CH3-CH2-CH3|Propan|propane|propane|E944 http://purl.obolibrary.org/obo/CHEBI_32879 3_STAR HP:0012094 biolink:PhenotypicFeature Abnormal pancreas size A deviation from the normal size of the pancreas. UMLS:C4023046 hp.json Abnormal pancreas size http://purl.obolibrary.org/obo/HP_0012094 HP:0012095 biolink:PhenotypicFeature Multiple joint dislocation Dislocation of many joints. SNOMEDCT_US:34277002|UMLS:C0332792|SNOMEDCT_US:287096003 hp.json Multiple joint dislocations http://purl.obolibrary.org/obo/HP_0012095 HP:0012096 biolink:PhenotypicFeature Intracranial epidermoid cyst A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development. UMLS:C4023045 hp.json http://purl.obolibrary.org/obo/HP_0012096 HP:0012097 biolink:PhenotypicFeature Intracranial dermoid cyst A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands. UMLS:C4023044 hp.json http://purl.obolibrary.org/obo/HP_0012097 HP:0012098 biolink:PhenotypicFeature Edema of the dorsum of feet An abnormal accumulation of fluid beneath the skin on the back of the feet. UMLS:C2919341|SNOMEDCT_US:445124008 hp.json Oedema of dorsum of feet|Edema of dorsum of feet|Oedema of the dorsum of feet http://purl.obolibrary.org/obo/HP_0012098 CHEBI:32871 biolink:ChemicalSubstance prolinate An alpha-amino-acid anion that is the conjugate base of proline, arising from deprotonation of the carboxy group. Beilstein:5387795|Reaxys:5387795|Gmelin:50151 hp.json pro(-)|prolinate|pyrrolidine-2-carboxylate|proline anion http://purl.obolibrary.org/obo/CHEBI_32871 3_STAR CHEBI:32872 biolink:ChemicalSubstance prolinium An alpha-amino-acid cation that is the conjugate acid of proline, arising from protonation of the amino group. hp.json 2-carboxypyrrolidinium|H2pro(+)|proline cation|prolinium http://purl.obolibrary.org/obo/CHEBI_32872 3_STAR CHEBI:30212 biolink:ChemicalSubstance photon Particle of zero charge, zero rest mass, spin quantum number 1, energy hnu and momentum hnu/c (h is the Planck constant, nu the frequency of radiation and c the speed of light), carrier of electromagnetic force. KEGG:C00205 hp.json Light|photon|foton|gamma|Lichtquant|light quantum|hnu|hnu http://purl.obolibrary.org/obo/CHEBI_30212 3_STAR HP:0012088 biolink:PhenotypicFeature Abnormal urinary odor A deviation from the normal odor of the urine. SNOMEDCT_US:8769003|UMLS:C0278045 hp.json Abnormal urinary odour|Abnormal urinary odor|Abnormal urine smell http://purl.obolibrary.org/obo/HP_0012088 HP:0012089 biolink:PhenotypicFeature Arteritis Arterial inflammation. UMLS:C0003860|SNOMEDCT_US:52089001|MSH:D001167 hp.json Inflammation of artery http://purl.obolibrary.org/obo/HP_0012089 GO:0005911 biolink:CellularComponent cell-cell junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. NIF_Subcellular:sao1922892319 hp.json cell-cell contact region|intercellular junction|cell-cell contact zone http://purl.obolibrary.org/obo/GO_0005911 HP:0012080 biolink:PhenotypicFeature Cerebellar granular layer atrophy Atrophy of the cerebellum affecting primarily the granular cell layer. UMLS:C4023054 hp.json http://purl.obolibrary.org/obo/HP_0012080 GO:0042981 biolink:BiologicalProcess regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process. hp.json apoptosis regulator activity|regulation of apoptosis http://purl.obolibrary.org/obo/GO_0042981 HP:0012081 biolink:PhenotypicFeature Enlarged cerebellum An abnormally increased size of the cerebellum compared to other brain structures. UMLS:C3278024 hp.json http://purl.obolibrary.org/obo/HP_0012081 CHEBI:32845 biolink:ChemicalSubstance serinate An alpha-amino-acid anion that is the conjugate base of serine. Gmelin:324692 hp.json 2-amino-3-hydroxypropanoate|serinate|serine anion http://purl.obolibrary.org/obo/CHEBI_32845 3_STAR HP:0012082 biolink:PhenotypicFeature Cerebellar Purkinje layer atrophy Atrophy of the cerebellum affecting primarily the Purkinje cell layer. UMLS:C4023053 hp.json http://purl.obolibrary.org/obo/HP_0012082 CHEBI:32846 biolink:ChemicalSubstance serinium An alpha-amino-acid cation that is the conjugate acid of serine. Gmelin:1925675 hp.json serine cation|serinium|1-carboxy-2-hydroxyethanaminium http://purl.obolibrary.org/obo/CHEBI_32846 3_STAR HP:0012083 biolink:PhenotypicFeature Ubiquitin-positive cerebral inclusion bodies Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain. UMLS:C4023052 hp.json http://purl.obolibrary.org/obo/HP_0012083 HP:0012084 biolink:PhenotypicFeature Abnormality of skeletal muscle fiber size Any abnormality of the size of the skeletal muscle cell. UMLS:C4023051 hp.json Abnormality of skeletal muscle fibre size http://purl.obolibrary.org/obo/HP_0012084 HP:0012085 biolink:PhenotypicFeature Pyuria The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase. SNOMEDCT_US:275765006|SNOMEDCT_US:4800001|MSH:D011776|UMLS:C0034359 hp.json High urine neutrophil count|Leukocyturia http://purl.obolibrary.org/obo/HP_0012085 HP:0012086 biolink:PhenotypicFeature Abnormal urinary color An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. UMLS:C0522153|SNOMEDCT_US:102867009|SNOMEDCT_US:167239007 hp.json Abnormal urine color|Abnormal urinary color|Abnormal urinary colour|Abnormal urine colour http://purl.obolibrary.org/obo/HP_0012086 HP:0012087 biolink:PhenotypicFeature Abnormal mitochondrial shape An anomaly in the surface contour of mitochondria. UMLS:C4023050 hp.json http://purl.obolibrary.org/obo/HP_0012087 HP:0000099 biolink:PhenotypicFeature Glomerulonephritis Inflammation of the renal glomeruli. UMLS:C0017658|SNOMEDCT_US:36171008|MSH:D005921 hp.json Glomerular nephritis http://purl.obolibrary.org/obo/HP_0000099 HP:0000098 biolink:PhenotypicFeature Tall stature A height above that which is expected according to age and gender norms. SNOMEDCT_US:248328003|UMLS:C0241240 hp.json Accelerated linear growth|Tall stature|Increased linear growth|Increased body height http://purl.obolibrary.org/obo/HP_0000098 HP:0012090 biolink:PhenotypicFeature Abnormal pancreas morphology UMLS:C4023049 hp.json Abnormally shaped pancreas|Abnormality of pancreas morphology http://purl.obolibrary.org/obo/HP_0012090 HP:0000091 biolink:PhenotypicFeature Abnormal renal tubule morphology An abnormality of the renal tubules. UMLS:C4021826 hp.json Morphologic abnormality of the renal tubules|Abnormality of the renal tubule http://purl.obolibrary.org/obo/HP_0000091 HP:0000090 biolink:PhenotypicFeature Nephronophthisis Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. UMLS:C0687120|SNOMEDCT_US:204958008 hp.json juvenile nephronophthisis http://purl.obolibrary.org/obo/HP_0000090 HP:0000093 biolink:PhenotypicFeature Proteinuria Increased levels of protein in the urine. SNOMEDCT_US:29738008|MSH:D011507|UMLS:C0033687 hp.json High urine protein levels|Protein in urine http://purl.obolibrary.org/obo/HP_0000093 HP:0000092 biolink:PhenotypicFeature Renal tubular atrophy The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. UMLS:C1858395 hp.json Tubular atrophy|Renal tubular cell atrophy http://purl.obolibrary.org/obo/HP_0000092 HP:0000095 biolink:PhenotypicFeature Abnormal renal glomerulus morphology A structural anomaly of the glomerulus. UMLS:C4025889 hp.json Morphologic abnormality of the renal glomerulus|Abnormality of renal glomerulus morphology http://purl.obolibrary.org/obo/HP_0000095 HP:0000097 biolink:PhenotypicFeature Focal segmental glomerulosclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. SNOMEDCT_US:25821008|UMLS:C0017668|MSH:D005923|SNOMEDCT_US:236403004 hp.json focal glomerulosclerosis|Focal and segmental glomerular sclerosis|Focal and segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000097 HP:0000096 biolink:PhenotypicFeature Glomerular sclerosis Accumulation of scar tissue within the glomerulus. UMLS:C0178664|SNOMEDCT_US:197661001|SNOMEDCT_US:82646005 hp.json Renal glomerular fibrosis|Glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 HP:0012077 biolink:PhenotypicFeature Histrionic personality disorder A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention. MSH:D006677|ICD-10:F60.4|UMLS:C0019681|SNOMEDCT_US:55341008 hp.json http://purl.obolibrary.org/obo/HP_0012077 HP:0012078 biolink:PhenotypicFeature Motor conduction block Blockade of impulses at a focal site along the course of a motor axon. UMLS:C4023056 hp.json http://purl.obolibrary.org/obo/HP_0012078 HP:0012079 biolink:PhenotypicFeature Abnormality of central motor conduction Any anomaly of the conduction of motor nerve impulses in the central nervous system. UMLS:C4023055 hp.json http://purl.obolibrary.org/obo/HP_0012079 HP:0012070 biolink:PhenotypicFeature Chondroitin sulfate excretion in urine An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. UMLS:C4023059 hp.json Chondroitin sulphate excretion in urine http://purl.obolibrary.org/obo/HP_0012070 HP:0012071 biolink:PhenotypicFeature Abnormal circulating acetylcarnitine concentration Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. UMLS:C4020733|UMLS:C4023058 hp.json Abnormal circulating esterified carnitine concentration|Abnormal acetylcarnitine profile http://purl.obolibrary.org/obo/HP_0012071 HP:0012072 biolink:PhenotypicFeature Aciduria Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. UMLS:C0278026|SNOMEDCT_US:21806007 hp.json Acidic urine http://purl.obolibrary.org/obo/HP_0012072 HP:0012073 biolink:PhenotypicFeature Abnormal urinary acylglycine profile An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. UMLS:C4023057 hp.json http://purl.obolibrary.org/obo/HP_0012073 CHEBI:32859 biolink:ChemicalSubstance valinate Gmelin:49876 hp.json val(-)|2-amino-3-methylbutanoate|valinate|valine anion http://purl.obolibrary.org/obo/CHEBI_32859 3_STAR HP:0012074 biolink:PhenotypicFeature Tonic pupil An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation. SNOMEDCT_US:24225004|UMLS:C0040416|MSH:D015845 hp.json Adie's tonic pupil|Adie pupil http://purl.obolibrary.org/obo/HP_0012074 hposlim_core HP:0012075 biolink:PhenotypicFeature Personality disorder An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. ICD-10:F60|MSH:D010554|SNOMEDCT_US:33449004|UMLS:C0031212 hp.json http://purl.obolibrary.org/obo/HP_0012075 HP:0012076 biolink:PhenotypicFeature Borderline personality disorder A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions. SNOMEDCT_US:20010003|ICD-10:F60.3|UMLS:C0006012|MSH:D001883 hp.json BPD http://purl.obolibrary.org/obo/HP_0012076 GO:0042996 biolink:BiologicalProcess regulation of Golgi to plasma membrane protein transport Any process that modulates the frequency, rate or extent of the transport of proteins from the Golgi to the plasma membrane. hp.json http://purl.obolibrary.org/obo/GO_0042996 GO:0042995 biolink:CellularComponent cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon. hp.json cellular process|cell process|cellular projection http://purl.obolibrary.org/obo/GO_0042995 goslim_mouse|goslim_agr|prokaryote_subset|goslim_pir|goslim_flybase_ribbon GO:0042998 biolink:BiologicalProcess positive regulation of Golgi to plasma membrane protein transport Any process that activates or increases the frequency, rate or extent of the transport of proteins from the Golgi to the plasma membrane. hp.json upregulation of Golgi to plasma membrane protein transport|up regulation of Golgi to plasma membrane protein transport|stimulation of Golgi to plasma membrane protein transport|up-regulation of Golgi to plasma membrane protein transport|activation of Golgi to plasma membrane protein transport http://purl.obolibrary.org/obo/GO_0042998 GO:0042997 biolink:BiologicalProcess negative regulation of Golgi to plasma membrane protein transport Any process that stops, prevents, or reduces the frequency, rate or extent of the transport of proteins from the Golgi to the plasma membrane. hp.json down regulation of Golgi to plasma membrane protein transport|inhibition of Golgi to plasma membrane protein transport|down-regulation of Golgi to plasma membrane protein transport|downregulation of Golgi to plasma membrane protein transport http://purl.obolibrary.org/obo/GO_0042997 GO:0005929 biolink:CellularComponent cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. Wikipedia:Cilium|FMA:67181|NIF_Subcellular:sao787716553 hp.json primary cilium|eukaryotic flagellum|flagellum|microtubule-based flagellum http://purl.obolibrary.org/obo/GO_0005929 goslim_generic|goslim_pir|goslim_drosophila|goslim_chembl CHEBI:17234 biolink:ChemicalSubstance glucose An aldohexose used as a source of energy and metabolic intermediate. KEGG:C00293|CAS:50-99-7|Wikipedia:Glucose hp.json Glc|glucose|Glucose|DL-glucose|gluco-hexose|Glukose http://purl.obolibrary.org/obo/CHEBI_17234 3_STAR UBERON:0007425 biolink:AnatomicalEntity decussation of diencephalon A neural decussation that is part of a diencephalon. FMA:62446 hp.json diencephalon decussation http://purl.obolibrary.org/obo/UBERON_0007425 HP:0002659 biolink:PhenotypicFeature Increased susceptibility to fractures An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. UMLS:C1390474 hp.json Increased tendency to fractures|Frequent broken bones|Increased susceptibility to fractures|Bone fragility|Increased bone fragility|Abnormal susceptibility to fractures http://purl.obolibrary.org/obo/HP_0002659 HP:0002652 biolink:PhenotypicFeature Skeletal dysplasia A general term describing features characterized by abnormal development of bones and connective tissues. SNOMEDCT_US:240190009|UMLS:C4280567|MSH:D010009|UMLS:C0029422|SNOMEDCT_US:105985007 hp.json Abnormal skeletal development http://purl.obolibrary.org/obo/HP_0002652 HP:0002653 biolink:PhenotypicFeature Bone pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. SNOMEDCT_US:12584003|UMLS:C0151825 hp.json Bone pain http://purl.obolibrary.org/obo/HP_0002653 HP:0002650 biolink:PhenotypicFeature Scoliosis The presence of an abnormal lateral curvature of the spine. SNOMEDCT_US:64217002|UMLS:C0037932|UMLS:C0700208|Fyler:4160|SNOMEDCT_US:111266001|MSH:D013121 hp.json http://purl.obolibrary.org/obo/HP_0002650 hposlim_core HP:0002651 biolink:PhenotypicFeature Spondyloepimetaphyseal dysplasia UMLS:C0432211|SNOMEDCT_US:254062008 hp.json http://purl.obolibrary.org/obo/HP_0002651 HP:0002656 biolink:PhenotypicFeature Epiphyseal dysplasia UMLS:C4280566|SNOMEDCT_US:254080004|UMLS:C0392476 hp.json Abnormal development of the ends of long bones in arms and legs|Abnormal development of end part of bone http://purl.obolibrary.org/obo/HP_0002656 HP:0002657 biolink:PhenotypicFeature Spondylometaphyseal dysplasia UMLS:C0700635|SNOMEDCT_US:702350003|MSH:C537501 hp.json http://purl.obolibrary.org/obo/HP_0002657 HP:0002654 biolink:PhenotypicFeature Multiple epiphyseal dysplasia SNOMEDCT_US:59708000|MSH:D010009|UMLS:C0026760 hp.json http://purl.obolibrary.org/obo/HP_0002654 HP:0002655 biolink:PhenotypicFeature Spondyloepiphyseal dysplasia A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). UMLS:C0038015|MSH:D010009 hp.json Spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/HP_0002655 HP:0000008 biolink:PhenotypicFeature Abnormal morphology of female internal genitalia An abnormality of the female internal genitalia. UMLS:C4025900 hp.json Abnormality of female internal genitalia http://purl.obolibrary.org/obo/HP_0000008 HP:0000007 biolink:PhenotypicFeature Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). UMLS:C4020899|SNOMEDCT_US:258211005|UMLS:C0441748 hp.json biallelic_autosomal|Autosomal recessive predisposition|Autosomal recessive|Autosomal recessive form http://purl.obolibrary.org/obo/HP_0000007 HP:0002669 biolink:PhenotypicFeature Osteosarcoma A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. SNOMEDCT_US:21708004|MSH:D012516|UMLS:C0029463|NCIT:C9145|SNOMEDCT_US:307576001 hp.json Bone cell cancer|Osteogenic sarcoma http://purl.obolibrary.org/obo/HP_0002669 HP:0000009 biolink:PhenotypicFeature Functional abnormality of the bladder Dysfunction of the urinary bladder. UMLS:C3806583 hp.json Poor bladder function http://purl.obolibrary.org/obo/HP_0000009 HP:0002663 biolink:PhenotypicFeature Delayed epiphyseal ossification UMLS:C4280565|UMLS:C1865200 hp.json Delayed epiphyseal maturation|Delayed opacification of the epiphyses|Epiphyseal ossification delay|Delayed maturation of end part of long bone http://purl.obolibrary.org/obo/HP_0002663 HP:0002664 biolink:PhenotypicFeature Neoplasm An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). MSH:D009369|SNOMEDCT_US:363346000|UMLS:C0027651|NCIT:C3262|SNOMEDCT_US:108369006|UMLS:C0006826 hp.json Abnormal tissue mass|Oncology|Oncological abnormality|Cancer|Tumour|Tumor|Neoplasia http://purl.obolibrary.org/obo/HP_0002664 HP:0000002 biolink:PhenotypicFeature Abnormality of body height Deviation from the norm of height with respect to that which is expected according to age and gender norms. UMLS:C4025901 hp.json Abnormality of body height http://purl.obolibrary.org/obo/HP_0000002 HP:0002661 biolink:PhenotypicFeature Painless fractures due to injury An increased tendency to fractures following trauma, with fractures occurring without pain. UMLS:C1837602 hp.json Painless fractures due to injury http://purl.obolibrary.org/obo/HP_0002661 HP:0000001 biolink:PhenotypicFeature All UMLS:C0444868 hp.json http://purl.obolibrary.org/obo/HP_0000001 HP:0002667 biolink:PhenotypicFeature Nephroblastoma The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. NCIT:C40407|SNOMEDCT_US:25081006|MSH:D009396|UMLS:C0027708|SNOMEDCT_US:302849000 hp.json Wilm's tumour|Wilms tumour|Wilms tumor|Wilm's tumor http://purl.obolibrary.org/obo/HP_0002667 HP:0002668 biolink:PhenotypicFeature Paraganglioma A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. SNOMEDCT_US:302833002|SNOMEDCT_US:803009|SNOMEDCT_US:127027008|MSH:D010235|SNOMEDCT_US:72787006|NCIT:C3308|UMLS:C0030421|SNOMEDCT_US:253029009 hp.json Carotid body tumors|Carotid body tumours|Paragangliomas http://purl.obolibrary.org/obo/HP_0002668 HP:0000003 biolink:PhenotypicFeature Multicystic kidney dysplasia Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. UMLS:C3714581|MSH:D021782|SNOMEDCT_US:204962002|SNOMEDCT_US:82525005 hp.json Multicystic renal dysplasia|Multicystic dysplastic kidney|Multicystic kidneys http://purl.obolibrary.org/obo/HP_0000003 HP:0002665 biolink:PhenotypicFeature Lymphoma A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. UMLS:C0024299|SNOMEDCT_US:21964009|MSH:D008223|SNOMEDCT_US:118600007|NCIT:C7065|SNOMEDCT_US:115244002|SNOMEDCT_US:188676008 hp.json Cancer of lymphatic system http://purl.obolibrary.org/obo/HP_0002665 HP:0000006 biolink:PhenotypicFeature Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. UMLS:C0443147|SNOMEDCT_US:263681008 hp.json Autosomal dominant form|Autosomal dominant|Autosomal dominant type|monoallelic_autosomal http://purl.obolibrary.org/obo/HP_0000006 HP:0000005 biolink:PhenotypicFeature Mode of inheritance The pattern in which a particular genetic trait or disorder is passed from one generation to the next. UMLS:C1708511 hp.json Inheritance http://purl.obolibrary.org/obo/HP_0000005 HP:0002666 biolink:PhenotypicFeature Pheochromocytoma Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. SNOMEDCT_US:85583005|SNOMEDCT_US:399343007|MSH:D010673|UMLS:C0031511|SNOMEDCT_US:302835009|NCIT:C3326 hp.json Chromaffin tumors|Chromaffin tumours http://purl.obolibrary.org/obo/HP_0002666 GO:0003379 biolink:BiologicalProcess establishment of cell polarity involved in gastrulation cell migration The specification and formation of anisotropic intracellular organization that contributes to the self-propelled directed movement of an ameboid cell taking part in gastrulation. hp.json http://purl.obolibrary.org/obo/GO_0003379 HP:0002638 biolink:PhenotypicFeature Superficial thrombophlebitis Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). SNOMEDCT_US:2477008|UMLS:C1510431 hp.json http://purl.obolibrary.org/obo/HP_0002638 HP:0002639 biolink:PhenotypicFeature Budd-Chiari syndrome Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience. UMLS:C0856761|MSH:D006502|SNOMEDCT_US:82385007 hp.json http://purl.obolibrary.org/obo/HP_0002639 HP:0002636 biolink:PhenotypicFeature Dilatation of an abdominal artery Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta. UMLS:C4025694 hp.json Aneurysm of an abdominal artery http://purl.obolibrary.org/obo/HP_0002636 HP:0002637 biolink:PhenotypicFeature Cerebral ischemia Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue. MSH:D002545|UMLS:C0917798|SNOMEDCT_US:287731003|UMLS:C0007786|SNOMEDCT_US:389100007 hp.json Brain ischemia|Disruption of blood oxygen supply to brain|Cerebrovascular ischemia http://purl.obolibrary.org/obo/HP_0002637 GO:0003371 biolink:BiologicalProcess establishment or maintenance of cytoskeleton polarity involved in ameboidal cell migration Any cellular process that results in the specification, formation or maintenance of polarized cytoskeletal structures that contribute to the cell polarity of a migrating ameboid cell. hp.json http://purl.obolibrary.org/obo/GO_0003371 HP:0002630 biolink:PhenotypicFeature Fat malabsorption Abnormality of the absorption of fat from the gastrointestinal tract. UMLS:C0554103|SNOMEDCT_US:197494007 hp.json http://purl.obolibrary.org/obo/HP_0002630 HP:0002631 biolink:PhenotypicFeature obsolete Dilatation of ascending aorta hp.json http://purl.obolibrary.org/obo/HP_0002631 HP:0002634 biolink:PhenotypicFeature Arteriosclerosis Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. SNOMEDCT_US:72092001|UMLS:C4280568|UMLS:C0003850|MSH:D001161|SNOMEDCT_US:107671003|SNOMEDCT_US:28960008 hp.json Hardened artery wall http://purl.obolibrary.org/obo/HP_0002634 HP:0002635 biolink:PhenotypicFeature Type IV atherosclerotic lesion In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. SNOMEDCT_US:38716007|UMLS:C0004153|MSH:D050197 hp.json Atheromatosis http://purl.obolibrary.org/obo/HP_0002635 HP:0002632 biolink:PhenotypicFeature Low-to-normal blood pressure UMLS:C1866500 hp.json Low-to-normal BP|Low-to-normal blood pressure http://purl.obolibrary.org/obo/HP_0002632 HP:0002633 biolink:PhenotypicFeature Vasculitis Inflammation of blood vessel. UMLS:C0042384|SNOMEDCT_US:31996006|MSH:D014657 hp.json Angiitis|Inflammation of blood vessel http://purl.obolibrary.org/obo/HP_0002633 GO:0030990 biolink:CellularComponent intraciliary transport particle A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. hp.json IFT complex|intraflagellar transport particle|intraflagellar transport complex http://purl.obolibrary.org/obo/GO_0030990 goslim_pir HP:0002647 biolink:PhenotypicFeature Aortic dissection Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. UMLS:C0340643|SNOMEDCT_US:308546005 hp.json Tear in inner wall of large artery that carries blood away from heart http://purl.obolibrary.org/obo/HP_0002647 HP:0002648 biolink:PhenotypicFeature obsolete Abnormality of calvarial morphology hp.json http://purl.obolibrary.org/obo/HP_0002648 GO:0003380 biolink:BiologicalProcess establishment or maintenance of cytoskeleton polarity involved in gastrulation Any cellular process that results in the specification, formation or maintenance of polarized cytoskeletal structures that contribute to the cell polarity of a migrating ameboid cell taking part in gastrulation. hp.json http://purl.obolibrary.org/obo/GO_0003380 GO:0003382 biolink:BiologicalProcess epithelial cell morphogenesis The change in form that occurs when an epithelial cell progresses from its initial formation to its mature state. hp.json http://purl.obolibrary.org/obo/GO_0003382 GO:0003381 biolink:BiologicalProcess epithelial cell morphogenesis involved in gastrulation The change in form that occurs when an epithelial cell progresses from it initial formation to its mature state, contributing to the process of gastrulation. hp.json http://purl.obolibrary.org/obo/GO_0003381 HP:0002641 biolink:PhenotypicFeature Peripheral thrombosis UMLS:C1849749 hp.json Peripheral blood clot http://purl.obolibrary.org/obo/HP_0002641 HP:0002642 biolink:PhenotypicFeature Arteriovenous fistulas of celiac and mesenteric vessels UMLS:C1857693 hp.json Arteriovenous fistulas of coeliac and mesenteric vessels http://purl.obolibrary.org/obo/HP_0002642 HP:0002640 biolink:PhenotypicFeature Hypertension associated with pheochromocytoma A type of hypertension associated with pheochromocytoma. UMLS:C4025693 hp.json http://purl.obolibrary.org/obo/HP_0002640 HP:0002645 biolink:PhenotypicFeature Wormian bones The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. SNOMEDCT_US:113194005|UMLS:C0222716 hp.json Islands of bone within cranial sutures|Extra bones within cranial sutures|Intrasutural bones|Intra sutural bones http://purl.obolibrary.org/obo/HP_0002645 hposlim_core HP:0002643 biolink:PhenotypicFeature Neonatal respiratory distress Respiratory difficulty as newborn. UMLS:C0852283 hp.json Respiratory distress, neonatal|Newborn respiratory distress|Infantile respiratory distress|Neonatal respiratory distress http://purl.obolibrary.org/obo/HP_0002643 HP:0002644 biolink:PhenotypicFeature Abnormal pelvic girdle bone morphology An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. UMLS:C4020847 hp.json Abnormality of pelvic girdle bone morphology|Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle http://purl.obolibrary.org/obo/HP_0002644 HP:0012022 biolink:PhenotypicFeature Congenital portosystemic venous shunt A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver). SNOMEDCT_US:253330006|MSH:C562830|UMLS:C0344688 hp.json http://purl.obolibrary.org/obo/HP_0012022 HP:0012023 biolink:PhenotypicFeature Galactosuria Elevated concentration of galactose in the urine. SNOMEDCT_US:71690006|UMLS:C0268157 hp.json Increased urinary galactose level http://purl.obolibrary.org/obo/HP_0012023 HP:0012024 biolink:PhenotypicFeature Hypergalactosemia Elevated concentration of galactose in the blood. UMLS:C4023071|SNOMEDCT_US:190745006|UMLS:C0016952|MSH:D005693|SNOMEDCT_US:190749000 hp.json Galactosemia http://purl.obolibrary.org/obo/HP_0012024 HP:0012025 biolink:PhenotypicFeature Abnormal circulating ornithine concentration Deviation from the normal concentration of ornithine in the blood circulation. UMLS:C4023070 hp.json http://purl.obolibrary.org/obo/HP_0012025 HP:0012026 biolink:PhenotypicFeature Hyperornithinemia Increased concentration of ornithine in the blood. UMLS:C0599035|SNOMEDCT_US:33985005|MSH:D015799|SNOMEDCT_US:276426004 hp.json High blood ornithine levels http://purl.obolibrary.org/obo/HP_0012026 GO:0003354 biolink:BiologicalProcess negative regulation of cilium movement Any process that decreases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. hp.json negative regulation of flagellum movement|negative regulation of microtubule-based flagellum movement http://purl.obolibrary.org/obo/GO_0003354 HP:0012027 biolink:PhenotypicFeature Laryngeal edema An abnormal accumulation of fluid and swelling in the tissues of the larynx. MSH:D007819|UMLS:C0023052|SNOMEDCT_US:51599000 hp.json Laryngeal oedema http://purl.obolibrary.org/obo/HP_0012027 HP:0012028 biolink:PhenotypicFeature Hepatocellular adenoma A benign tumor of the liver of presumably epithelial origin. MSH:D018248|MPATH:353|SNOMEDCT_US:424263008|SNOMEDCT_US:78058005|UMLS:C0206669 hp.json Hepatic adenoma|Liver cell adenoma http://purl.obolibrary.org/obo/HP_0012028 HP:0012029 biolink:PhenotypicFeature Abnormal urine hormone level An abnormal concentration of a hormone in the urine. UMLS:C4023069 hp.json Abnormality of urine hormone level http://purl.obolibrary.org/obo/HP_0012029 GO:0003353 biolink:BiologicalProcess positive regulation of cilium movement Any process that increases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. hp.json positive regulation of flagellar movement|positive regulation of flagellum movement|positive regulation of microtubule-based flagellum movement http://purl.obolibrary.org/obo/GO_0003353 GO:0003352 biolink:BiologicalProcess regulation of cilium movement Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. hp.json regulation of flagellum movement|regulation of microtubule-based flagellum movement|regulation of flagellar movement http://purl.obolibrary.org/obo/GO_0003352 HP:0012020 biolink:PhenotypicFeature Right aortic arch Aorta descends on right instead of on the left. SNOMEDCT_US:111321007|UMLS:C0035615|Fyler:2720|SNOMEDCT_US:244229003 hp.json Right-sided aortic arch http://purl.obolibrary.org/obo/HP_0012020 HP:0012021 biolink:PhenotypicFeature Persistent patent ductus venosus Persistence of blood flow through the ductus venosus for longer than the normal time after birth. UMLS:C4023072 hp.json http://purl.obolibrary.org/obo/HP_0012021 HP:0002696 biolink:PhenotypicFeature Abnormal parietal bone morphology Any abnormality of the parietal bone of the skull. UMLS:C4021834 hp.json Abnormality of the parietal bone|Abnormality of the parietal bone of skull http://purl.obolibrary.org/obo/HP_0002696 HP:0000033 biolink:PhenotypicFeature Ambiguous genitalia, male Ambiguous genitalia in an individual with XY genetic gender. UMLS:C4021823 hp.json Ambiguous genitalia in males http://purl.obolibrary.org/obo/HP_0000033 HP:0002697 biolink:PhenotypicFeature Parietal foramina The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. UMLS:C0222706|UMLS:C4280556|SNOMEDCT_US:11240000|SNOMEDCT_US:29307005 hp.json Persistent foramina of the parietal bones|Holes in parietal bones|Symmetrical, oval defects in the parietal bone|Symmetrical, oval parietal bone defects|Openings in parietal bones http://purl.obolibrary.org/obo/HP_0002697 HP:0000032 biolink:PhenotypicFeature Abnormality of male external genitalia An abnormality of male external genitalia. UMLS:C4025897 hp.json http://purl.obolibrary.org/obo/HP_0000032 HP:0002694 biolink:PhenotypicFeature Sclerosis of skull base Increased bone density of the skull base without significant changes in bony contour. UMLS:C1851714|UMLS:C4072848|UMLS:C4072847 hp.json Sclerosis of the skull base|Sclerosis of cranial base|Hyperossification of skull base|HyperMineralization of skull base|Marked sclerosis of skull base|Sclerotic skull base|Dense bone of skull base|Hyperostosis of skull base|HyperCalcification of skull base http://purl.obolibrary.org/obo/HP_0002694 HP:0000035 biolink:PhenotypicFeature Abnormal testis morphology An anomaly of the testicle (the male gonad). SNOMEDCT_US:55631001|UMLS:C0266423 hp.json Abnormality of the testis|Anomaly of the testes http://purl.obolibrary.org/obo/HP_0000035 HP:0002695 biolink:PhenotypicFeature obsolete Symmetrical, oval parietal bone defects hp.json http://purl.obolibrary.org/obo/HP_0002695 HP:0000034 biolink:PhenotypicFeature Hydrocele testis Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. UMLS:C1720771|SNOMEDCT_US:26614003|SNOMEDCT_US:386152007|MSH:D006848|SNOMEDCT_US:55434001 hp.json Hydrocele|Testicular hydrocele http://purl.obolibrary.org/obo/HP_0000034 HP:0000037 biolink:PhenotypicFeature Male pseudohermaphroditism Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. MSH:D058490|UMLS:C0238395|SNOMEDCT_US:111332007 hp.json http://purl.obolibrary.org/obo/HP_0000037 HP:0000036 biolink:PhenotypicFeature Abnormal penis morphology Abnormality of the male external sex organ. UMLS:C4025896 hp.json Abnormality of the penis http://purl.obolibrary.org/obo/HP_0000036 HP:0000039 biolink:PhenotypicFeature Epispadias Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. SNOMEDCT_US:406477003|UMLS:C0563449 hp.json http://purl.obolibrary.org/obo/HP_0000039 HP:0002699 biolink:PhenotypicFeature Abnormal foramen magnum morphology Any abnormality of the foramen magnum. UMLS:C4025687 hp.json Abnormality of the foramen magnum http://purl.obolibrary.org/obo/HP_0002699 hposlim_core HP:0002692 biolink:PhenotypicFeature Hypoplastic facial bones UMLS:C4229090|UMLS:C4280558|UMLS:C4280557|UMLS:C1846438|UMLS:C4280268 hp.json Underdevelopment of facial bones|Underdevelopment of facial skeleton|Small facial bones|Hypoplasia of facial skeleton|Flattening of facial skeleton|Hypotrophic facial bones|Hypotrophic facial skeleton|Decreased size of facial bones|Decreased size of facial skeleton|Flattening of facial bones|Small facial skeleton http://purl.obolibrary.org/obo/HP_0002692 HP:0002693 biolink:PhenotypicFeature Abnormality of the skull base An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. UMLS:C4025688 hp.json Abnormality of cranial base|Abnormality of the skull base http://purl.obolibrary.org/obo/HP_0002693 HP:0002690 biolink:PhenotypicFeature Large sella turcica An abnormal enlargement of the sella turcica. UMLS:C4072846|UMLS:C4072845|UMLS:C1843677 hp.json Hyperplasia of sella turcica|Large pituitary fossa|Large hypophysial fossa|Hyperplasia of pituitary fossa|Hyperplasia of hypophysial fossa|Big sella turcica|Prominent sella turcica|Enlarged sella turcica http://purl.obolibrary.org/obo/HP_0002690 hposlim_core HP:0000031 biolink:PhenotypicFeature Epididymitis The presence of inflammation of the epididymis. MSH:D004823|SNOMEDCT_US:31070006|UMLS:C0014534 hp.json http://purl.obolibrary.org/obo/HP_0000031 HP:0002691 biolink:PhenotypicFeature Platybasia A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. UMLS:C0032209|SNOMEDCT_US:86587003|MSH:D010985 hp.json Obtuse basal angle of skull base|Increased basal angle of skull base|Flattening of the skull base http://purl.obolibrary.org/obo/HP_0002691 hposlim_core HP:0000030 biolink:PhenotypicFeature Testicular gonadoblastoma The presence of a gonadoblastoma of the testis. UMLS:C1515283|NCIT:C3754 hp.json Gonadoblastoma, male http://purl.obolibrary.org/obo/HP_0000030 HP:0012011 biolink:PhenotypicFeature EEG with occipital focal spike waves EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. UMLS:C4023080 hp.json http://purl.obolibrary.org/obo/HP_0012011 HP:0012012 biolink:PhenotypicFeature EEG with parietal focal spike waves EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. UMLS:C4023079 hp.json http://purl.obolibrary.org/obo/HP_0012012 HP:0012013 biolink:PhenotypicFeature EEG with temporal focal spike waves EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. UMLS:C4023078 hp.json http://purl.obolibrary.org/obo/HP_0012013 HP:0012014 biolink:PhenotypicFeature EEG with central focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the central region. UMLS:C4023077 hp.json http://purl.obolibrary.org/obo/HP_0012014 HP:0012015 biolink:PhenotypicFeature EEG with frontal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. UMLS:C4023076 hp.json http://purl.obolibrary.org/obo/HP_0012015 GO:0003365 biolink:BiologicalProcess establishment of cell polarity involved in ameboidal cell migration The specification and formation of anisotropic intracellular organization that contributes to the self-propelled directed movement of an ameboid cell. hp.json http://purl.obolibrary.org/obo/GO_0003365 HP:0012016 biolink:PhenotypicFeature EEG with occipital focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region. UMLS:C4023075 hp.json http://purl.obolibrary.org/obo/HP_0012016 HP:0012017 biolink:PhenotypicFeature EEG with parietal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. UMLS:C4023074 hp.json http://purl.obolibrary.org/obo/HP_0012017 HP:0012018 biolink:PhenotypicFeature EEG with temporal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region. UMLS:C4023073 hp.json http://purl.obolibrary.org/obo/HP_0012018 GO:0003360 biolink:BiologicalProcess brainstem development The progression of the brainstem from its formation to the mature structure. The brainstem is the part of the brain that connects the brain with the spinal cord. hp.json http://purl.obolibrary.org/obo/GO_0003360 HP:0012010 biolink:PhenotypicFeature EEG with frontal focal spike waves EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. UMLS:C4023081 hp.json http://purl.obolibrary.org/obo/HP_0012010 HP:0000044 biolink:PhenotypicFeature Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). UMLS:C0271623|SNOMEDCT_US:33927004|MSH:D007006|UMLS:C3489396 hp.json Isolated hypogonadotropic hypogonadism|Low gonadotropins (secondary hypogonadism)|Hypogonadotrophic hypogonadism http://purl.obolibrary.org/obo/HP_0000044 HP:0000046 biolink:PhenotypicFeature Small scrotum Apparently small scrotum for age. UMLS:C0431659|SNOMEDCT_US:204912007 hp.json Scrotal hypoplasia|Hypoplastic scrotum|Smaller than typical growth of scrotum|Underdeveloped scrotum http://purl.obolibrary.org/obo/HP_0000046 HP:0000045 biolink:PhenotypicFeature Abnormality of the scrotum UMLS:C4025895 hp.json http://purl.obolibrary.org/obo/HP_0000045 HP:0000048 biolink:PhenotypicFeature Bifid scrotum Midline indentation or cleft of the scrotum. SNOMEDCT_US:236780002|UMLS:C0341787 hp.json Cleft of scrotum|Scrotal cleft http://purl.obolibrary.org/obo/HP_0000048 HP:0000047 biolink:PhenotypicFeature Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. UMLS:C1691215|Fyler:4504|SNOMEDCT_US:204888000 hp.json Hypospadia http://purl.obolibrary.org/obo/HP_0000047 HP:0000049 biolink:PhenotypicFeature Shawl scrotum Superior margin of the scrotum superior to the base of the penis. UMLS:C1858539 hp.json Scrotum surrounds penis|Overriding scrotum http://purl.obolibrary.org/obo/HP_0000049 HP:0012019 biolink:PhenotypicFeature Lens luxation Complete dislocation of the lens of the eye. MSH:D007906|UMLS:C0023309 hp.json Dislocated lens|Dislocated lenses http://purl.obolibrary.org/obo/HP_0012019 HP:0000040 biolink:PhenotypicFeature Long penis Penile length more than 2 SD above the mean for age. SNOMEDCT_US:88673001|UMLS:C0269011 hp.json Enlarged penis|Long penis http://purl.obolibrary.org/obo/HP_0000040 HP:0000042 biolink:PhenotypicFeature Absent external genitalia Lack of external genitalia in a male or female individual. UMLS:C1848869 hp.json Absent external genitalia http://purl.obolibrary.org/obo/HP_0000042 HP:0000041 biolink:PhenotypicFeature Chordee Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. UMLS:C0221182|SNOMEDCT_US:4287008 hp.json http://purl.obolibrary.org/obo/HP_0000041 HP:0012000 biolink:PhenotypicFeature EEG with generalized spikes EEG with generalized sharp transient waves of a duration less than 80 msec. UMLS:C2206531 hp.json EEG with generalised spikes http://purl.obolibrary.org/obo/HP_0012000 HP:0012001 biolink:PhenotypicFeature EEG with generalized polyspikes EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. UMLS:C4023088 hp.json EEG with generalised polyspikes http://purl.obolibrary.org/obo/HP_0012001 HP:0012002 biolink:PhenotypicFeature Experiential epileptic aura Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. UMLS:C4023087 hp.json Experiential auras|Experiential aura http://purl.obolibrary.org/obo/HP_0012002 HP:0012003 biolink:PhenotypicFeature Affective epileptic aura Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. UMLS:C4023086 hp.json Affective auras|Affective aura|Emotional aura http://purl.obolibrary.org/obo/HP_0012003 HP:0012004 biolink:PhenotypicFeature Focal cognitive seizure with deja vu/jamais vu A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. UMLS:C4023085 hp.json Mnemonic auras|Mnemonic aura http://purl.obolibrary.org/obo/HP_0012004 GO:0030952 biolink:BiologicalProcess establishment or maintenance of cytoskeleton polarity Any cellular process that results in the specification, formation or maintenance of polarized cytoskeletal structures. hp.json cytoskeleton polarization http://purl.obolibrary.org/obo/GO_0030952 GO:0005996 biolink:BiologicalProcess monosaccharide metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. hp.json monosaccharide metabolism http://purl.obolibrary.org/obo/GO_0005996 GO:0003333 biolink:BiologicalProcess amino acid transmembrane transport The process in which an amino acid is transported across a membrane. hp.json amino acid membrane transport http://purl.obolibrary.org/obo/GO_0003333 HP:0012005 biolink:PhenotypicFeature Deja vu aura A subjective feeling that an experience which is occurring for the first time has been experienced before. SNOMEDCT_US:313005|MSH:D003690|UMLS:C0011194 hp.json Deja vu http://purl.obolibrary.org/obo/HP_0012005 HP:0012006 biolink:PhenotypicFeature Jamais vu aura A subjective feeling that an experience which has occurred before is being experienced for the first time. UMLS:C0233803|SNOMEDCT_US:28249008 hp.json Jamais vu http://purl.obolibrary.org/obo/HP_0012006 HP:0012007 biolink:PhenotypicFeature Focal cognitive seizure with hallucination A focal cognitive seizure characterized by hallucination as the initial semiological manifestation. UMLS:C4023084 hp.json Hallucinatory auras|Hallucinatory aura http://purl.obolibrary.org/obo/HP_0012007 GO:0030951 biolink:BiologicalProcess establishment or maintenance of microtubule cytoskeleton polarity Any cellular process that results in the specification, formation or maintenance of polarized microtubule-based cytoskeletal structures. hp.json http://purl.obolibrary.org/obo/GO_0030951 GO:0003334 biolink:BiologicalProcess keratinocyte development The process whose specific outcome is the progression of a keratinocyte over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0003334 HP:0000019 biolink:PhenotypicFeature Urinary hesitancy Difficulty in beginning the process of urination. UMLS:C0152032|SNOMEDCT_US:5972002 hp.json Difficulty with flow http://purl.obolibrary.org/obo/HP_0000019 HP:0000011 biolink:PhenotypicFeature Neurogenic bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. UMLS:C0005697|SNOMEDCT_US:398064005|MSH:D001750|SNOMEDCT_US:397732007 hp.json Lack of bladder control due to nervous system injury http://purl.obolibrary.org/obo/HP_0000011 HP:0000010 biolink:PhenotypicFeature Recurrent urinary tract infections Repeated infections of the urinary tract. UMLS:C0262655|SNOMEDCT_US:197927001 hp.json Repeated bladder infections|Repeated urinary tract infections|Frequent urinary tract infections|Urinary tract infections, recurrent|Recurrent UTIs|Urinary tract infections http://purl.obolibrary.org/obo/HP_0000010 HP:0000013 biolink:PhenotypicFeature Hypoplasia of the uterus Underdevelopment of the uterus. SNOMEDCT_US:35850006|UMLS:C0266399 hp.json Hypoplastic uterus|Rudimentary uterus|Underdeveloped uterus|Small uterus http://purl.obolibrary.org/obo/HP_0000013 HP:0002672 biolink:PhenotypicFeature Gastrointestinal carcinoma UMLS:C0151544 hp.json GI carcinoma http://purl.obolibrary.org/obo/HP_0002672 HP:0002673 biolink:PhenotypicFeature Coxa valga Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). UMLS:C3549698|UMLS:C0239137|MSH:D060906|SNOMEDCT_US:299236004 hp.json Coxa valga deformity|Valgus hip http://purl.obolibrary.org/obo/HP_0002673 HP:0000012 biolink:PhenotypicFeature Urinary urgency Urge incontinence is the strong, sudden need to urinate. UMLS:C0085606|SNOMEDCT_US:75088002|UMLS:C4020898|UMLS:C3544092 hp.json Urgency frequency syndrome|Urinary urgency|Overactive bladder syndrome|Overactive bladder http://purl.obolibrary.org/obo/HP_0000012 HP:0000015 biolink:PhenotypicFeature Bladder diverticulum Diverticulum (sac or pouch) in the wall of the urinary bladder. SNOMEDCT_US:197866008|UMLS:C0156273|MSH:C562406 hp.json Bladder diverticula http://purl.obolibrary.org/obo/HP_0000015 HP:0002678 biolink:PhenotypicFeature Skull asymmetry UMLS:C4280563|UMLS:C4280562|SNOMEDCT_US:248372000|UMLS:C0424690 hp.json Unequal skull shape|Skull asymmetry|Malformation of skull shape|Asymmetry of skull|Uneven skull shape|Abnormality of skull shape http://purl.obolibrary.org/obo/HP_0002678 HP:0000014 biolink:PhenotypicFeature Abnormality of the bladder An abnormality of the urinary bladder. UMLS:C0149632 hp.json http://purl.obolibrary.org/obo/HP_0000014 HP:0002679 biolink:PhenotypicFeature Abnormal sella turcica morphology Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. UMLS:C4021754|UMLS:C4072839 hp.json Abnormality of the sella turcica|Anomaly of the sella turcica|Anomaly of the pituitary fossa|Anomaly of the hypophysial fossa|Abnormality of the pituitary fossa|Abnormality of the hypophysial fossa http://purl.obolibrary.org/obo/HP_0002679 hposlim_core HP:0002676 biolink:PhenotypicFeature Cloverleaf skull Trilobar skull configuration when viewed from the front or behind. UMLS:C4280564|UMLS:C1860050 hp.json Trilobar cranium shape|Kleeblattschaedel|Cloverleaf skull shape|Trilobar skull shape|Cloverleaf cranium shape http://purl.obolibrary.org/obo/HP_0002676 hposlim_core HP:0000017 biolink:PhenotypicFeature Nocturia Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. UMLS:C0028734|SNOMEDCT_US:139394000|MSH:D053158 hp.json Nycturia http://purl.obolibrary.org/obo/HP_0000017 HP:0000016 biolink:PhenotypicFeature Urinary retention Inability to completely empty the urinary bladder during the process of urination. SNOMEDCT_US:130951007|MSH:D016055|SNOMEDCT_US:449491000124101|SNOMEDCT_US:267064002|UMLS:C0080274 hp.json Increased post-void residual urine volume http://purl.obolibrary.org/obo/HP_0000016 HP:0002677 biolink:PhenotypicFeature Small foramen magnum An abnormal narrowing of the foramen magnum. UMLS:C4072838|UMLS:C1861217|SNOMEDCT_US:444879009|UMLS:C1535953 hp.json Little foramen magnum|Stenosis of foramen magnum|Foramen magnum stenosis|Hypoplasia of foramen magnum|Narrow foramen magnum http://purl.obolibrary.org/obo/HP_0002677 hposlim_core HP:0012008 biolink:PhenotypicFeature Focal cognitive seizure with illusion A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation. UMLS:C4023083 hp.json Illusory aura|Illusory auras http://purl.obolibrary.org/obo/HP_0012008 HP:0012009 biolink:PhenotypicFeature EEG with central focal spike waves EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. UMLS:C4023082 hp.json http://purl.obolibrary.org/obo/HP_0012009 HP:0002671 biolink:PhenotypicFeature Basal cell carcinoma The presence of a basal cell carcinoma of the skin. MSH:D002280|NCIT:C2921|SNOMEDCT_US:275265005|UMLS:C1862314|SNOMEDCT_US:254701007|SNOMEDCT_US:1338007|UMLS:C0007117 hp.json Basal cell epithelioma|Basal cell carcinomas|Basal cell nevus|Basalioma http://purl.obolibrary.org/obo/HP_0002671 GO:0003348 biolink:BiologicalProcess cardiac endothelial cell differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cardiac endothelial cell. hp.json http://purl.obolibrary.org/obo/GO_0003348 GO:0003344 biolink:BiologicalProcess pericardium morphogenesis The process in which the anatomical structure of the pericardium is generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0003344 GO:0003343 biolink:BiologicalProcess septum transversum development The progression of the septum transversum from its initial formation to the mature structure. The septum transversum is a portion of the trunk mesenchyme. hp.json http://purl.obolibrary.org/obo/GO_0003343 HP:0000029 biolink:PhenotypicFeature Testicular atrophy Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. SNOMEDCT_US:17585008|UMLS:C0156312 hp.json Testicular degeneration http://purl.obolibrary.org/obo/HP_0000029 GO:0003342 biolink:BiologicalProcess proepicardium development The progression of the proepicardium from its formation to the mature structure. The proepicardium is an outpouching of the septum transversum. hp.json http://purl.obolibrary.org/obo/GO_0003342 GO:0003341 biolink:BiologicalProcess cilium movement The directed, self-propelled movement of a cilium. hp.json ciliary motility|flagellar motility|flagellar movement|microtubule-based flagellum movement|cilium beating|flagellum movement http://purl.obolibrary.org/obo/GO_0003341 HP:0000022 biolink:PhenotypicFeature Abnormal male internal genitalia morphology An abnormality of the male internal genitalia. UMLS:C4025899 hp.json http://purl.obolibrary.org/obo/HP_0000022 HP:0002686 biolink:PhenotypicFeature Prenatal maternal abnormality UMLS:C4025690 hp.json Maternal health problem http://purl.obolibrary.org/obo/HP_0002686 HP:0000021 biolink:PhenotypicFeature Megacystis Dilatation of the bladder postnatally. UMLS:C1855311|MSH:C536139 hp.json http://purl.obolibrary.org/obo/HP_0000021 HP:0000024 biolink:PhenotypicFeature Prostatitis The presence of inflammation of the prostate. UMLS:C0033581|SNOMEDCT_US:9713002|MSH:D011472 hp.json Inflammation of the prostate http://purl.obolibrary.org/obo/HP_0000024 HP:0002683 biolink:PhenotypicFeature Abnormal calvaria morphology Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. UMLS:C4280561|UMLS:C4025691 hp.json Abnormality of cranial vault|Abnormality of cranium|Abnormality of calvarium|Abnormality of the calvaria|Abnormality of the skullcap|Abnormality of the shape of calvarium|Abnormality of the skull cap http://purl.obolibrary.org/obo/HP_0002683 HP:0002684 biolink:PhenotypicFeature Thickened calvaria The presence of an abnormally thick calvaria. UMLS:C4280560|UMLS:C1858452 hp.json Thickening of the calvaria|Thick calvarium|Increased thickness of cranial vault|Thick calvaria|Increased thickness of cranium|Increased thickness of calvarium|Increased calvarial thickness|Calvarial thickening|Thickened cranial vault|Thickened calvarium|Calvarium thickened|Thickened skull cap|Thickened cranium|Increased thickness of calvaria|Increased thickness of skull cap http://purl.obolibrary.org/obo/HP_0002684 HP:0000023 biolink:PhenotypicFeature Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal. MEDDRA:10022016|UMLS:C0019294|SNOMEDCT_US:396232000|MSH:D006552 hp.json http://purl.obolibrary.org/obo/HP_0000023 hposlim_core HP:0000026 biolink:PhenotypicFeature Male hypogonadism Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. SNOMEDCT_US:48723006|UMLS:C0151721|MSH:D005058 hp.json Decreased function of male gonad http://purl.obolibrary.org/obo/HP_0000026 HP:0002689 biolink:PhenotypicFeature Absent paranasal sinuses Aplasia of the paranasal sinuses. UMLS:C3804986|UMLS:C1857131|UMLS:C4072844 hp.json Missing sinuses|Absence of paranasal sinuses|Aplasia of paranasal sinuses|Missing paranasal sinuses http://purl.obolibrary.org/obo/HP_0002689 HP:0000025 biolink:PhenotypicFeature Functional abnormality of male internal genitalia UMLS:C4025898 hp.json http://purl.obolibrary.org/obo/HP_0000025 HP:0002687 biolink:PhenotypicFeature Abnormality of frontal sinus An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. UMLS:C4025689 hp.json Abnormality of the forehead sinus|Abnormality of sinus frontalis http://purl.obolibrary.org/obo/HP_0002687 HP:0000028 biolink:PhenotypicFeature Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. SNOMEDCT_US:204878001|UMLS:C0010417|MSH:D003456|Fyler:4493 hp.json Undescended testes|Cryptorchism|Undescended testis http://purl.obolibrary.org/obo/HP_0000028 HP:0000027 biolink:PhenotypicFeature Azoospermia Absence of any measurable level of sperm in his semen. MSH:D053713|UMLS:C0004509|SNOMEDCT_US:48188009|SNOMEDCT_US:425558002 hp.json Absent sperm in semen http://purl.obolibrary.org/obo/HP_0000027 HP:0002688 biolink:PhenotypicFeature Absent frontal sinuses Aplasia of frontal sinus. UMLS:C4280559|UMLS:C1855669 hp.json Absent frontal sinus|Absence of frontal sinuses|Aplasia sinus frontalis|Missing frontal sinus|Aplasia of frontal sinus http://purl.obolibrary.org/obo/HP_0002688 hposlim_core HP:0002681 biolink:PhenotypicFeature Deformed sella turcica UMLS:C1846437 hp.json Abnormal shape of pituitary fossa|Deformity of pituitary fossa|Malformation of pituitary fossa|Abnormal shape of hypophysial fossa|Malformation of hypophysial fossa|Deformity of hypophysial fossa|Abnormal shape of sella turcica|Malformation of sella turcica http://purl.obolibrary.org/obo/HP_0002681 HP:0002682 biolink:PhenotypicFeature Broad skull Increased width of the skull. SNOMEDCT_US:248374004|UMLS:C0424693 hp.json Broad skull|Increased width of skull|Wide cranium|Broad cranium|Increased width of cranium|Wide skull http://purl.obolibrary.org/obo/HP_0002682 HP:0000020 biolink:PhenotypicFeature Urinary incontinence Loss of the ability to control the urinary bladder leading to involuntary urination. MSH:D014549|UMLS:C0042024|SNOMEDCT_US:165232002 hp.json Bladder incontinence|Loss of bladder control http://purl.obolibrary.org/obo/HP_0000020 HP:0002680 biolink:PhenotypicFeature J-shaped sella turcica A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. UMLS:C1854718|UMLS:C4072842|UMLS:C4072841 hp.json Hour glass shaped sella turcica|J-shaped pituitary fossa|Omega shaped sella turcica|J-shaped hypophysial fossa|J-shaped sella|Omega shaped pituitary fossa|Omega shaped hypophysial fossa|Hour glass shaped pituitary fossa|Hour glass shaped hypophysial fossa http://purl.obolibrary.org/obo/HP_0002680 hposlim_core HP:0012620 biolink:PhenotypicFeature Cloacal abnormality A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate. UMLS:C4022816 hp.json http://purl.obolibrary.org/obo/HP_0012620 HP:0012621 biolink:PhenotypicFeature Persistent cloaca Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. UMLS:C0266225|SNOMEDCT_US:74829002 hp.json Cloacogenic bladder http://purl.obolibrary.org/obo/HP_0012621 HP:0012622 biolink:PhenotypicFeature Chronic kidney disease Functional anomaly of the kidney persisting for at least three months. SNOMEDCT_US:709044004|UMLS:C1561643|MSH:D051436|UMLS:C0748318 hp.json Renal failure, progressive|Loss of renal function|Chronic kidney disease|Progressive renal failure|Renal insufficiency, progressive|Progressive renal insufficiency http://purl.obolibrary.org/obo/HP_0012622 HP:0012623 biolink:PhenotypicFeature Stage 1 chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). SNOMEDCT_US:431855005|UMLS:C2316401 hp.json http://purl.obolibrary.org/obo/HP_0012623 HP:0000635 biolink:PhenotypicFeature Blue irides A markedly blue coloration of the iris. SNOMEDCT_US:301952009|UMLS:C0578626 hp.json Blue eyes http://purl.obolibrary.org/obo/HP_0000635 HP:0000634 biolink:PhenotypicFeature Impaired ocular abduction An impaired ability of the eye to move in the outward direction (towards the side of the head). UMLS:C1846462 hp.json http://purl.obolibrary.org/obo/HP_0000634 HP:0000637 biolink:PhenotypicFeature Long palpebral fissure Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. UMLS:C1849340 hp.json Wide palpebral fissure|Long opening between the eyelids|Wide palpebral fissures|Broad palpebral fissure|Wide opening between the eyelids|Broad opening between the eyelids|Long palpebral fissures http://purl.obolibrary.org/obo/HP_0000637 hposlim_core HP:0000636 biolink:PhenotypicFeature Upper eyelid coloboma A short discontinuity of the margin of the upper eyelid. UMLS:C1863872 hp.json Notched upper eyelid|Full thickness defect of the upper eyelid|Cleft upper eyelid|Coloboma of the upper eyelid|Upper eyelid colobomas http://purl.obolibrary.org/obo/HP_0000636 HP:0000639 biolink:PhenotypicFeature Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. UMLS:C0028738|MSH:D009759|SNOMEDCT_US:563001 hp.json Involuntary, rapid, rhythmic eye movements http://purl.obolibrary.org/obo/HP_0000639 hposlim_core UBERON:0007099 biolink:AnatomicalEntity hyoid neural crest Cranial neural crest that migrates into the hyoid arch. ZFA:0007065|TAO:0007065|XAO:0000025 hp.json hyoid crest http://purl.obolibrary.org/obo/UBERON_0007099 HP:0000631 biolink:PhenotypicFeature Retinal arterial tortuosity The presence of an increased number of twists and turns of the retinal artery. SNOMEDCT_US:247123003|UMLS:C0423401 hp.json Retinal artery tortuousity http://purl.obolibrary.org/obo/HP_0000631 hposlim_core UBERON:0007098 biolink:AnatomicalEntity mandibular neural crest Cranial neural crest that migrates into the mandibular arch. ZFA:0007064|TAO:0007064|XAO:0000024 hp.json http://purl.obolibrary.org/obo/UBERON_0007098 HP:0000630 biolink:PhenotypicFeature Abnormal retinal artery morphology UMLS:C4021802 hp.json Retinal arterial abnormality|Abnormality of retinal arteries http://purl.obolibrary.org/obo/HP_0000630 HP:0000633 biolink:PhenotypicFeature Decreased lacrimation Abnormally decreased lacrimation, that is, reduced ability to produce tears. UMLS:C0235857 hp.json Decreased tear secretion http://purl.obolibrary.org/obo/HP_0000633 HP:0000632 biolink:PhenotypicFeature Lacrimation abnormality Abnormality of tear production. UMLS:C4021801 hp.json Abnormality of tear production http://purl.obolibrary.org/obo/HP_0000632 HP:0012624 biolink:PhenotypicFeature Stage 2 chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). SNOMEDCT_US:431856006|UMLS:C2316786 hp.json http://purl.obolibrary.org/obo/HP_0012624 HP:0012625 biolink:PhenotypicFeature Stage 3 chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). SNOMEDCT_US:433144002|UMLS:C2316787 hp.json http://purl.obolibrary.org/obo/HP_0012625 HP:0012626 biolink:PhenotypicFeature Stage 4 chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). UMLS:C2317473|SNOMEDCT_US:431857002 hp.json Stage 4 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012626 HP:0012627 biolink:PhenotypicFeature Pseudoexfoliation Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. UMLS:C4022815 hp.json http://purl.obolibrary.org/obo/HP_0012627 HP:0012628 biolink:PhenotypicFeature Abnormal suspensory ligament of lens morphology An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. UMLS:C4021077 hp.json Abnormality of the suspensory ligament of lens|Zonule of zinn abnormality|Abnormality of zinn's membrane|Ciliary zonule abnormality http://purl.obolibrary.org/obo/HP_0012628 HP:0012629 biolink:PhenotypicFeature Phakodonesis Tremulousness (trembling) of the lens of the eye. UMLS:C2939415|SNOMEDCT_US:116669003 hp.json Trembling eye lens|Phacodonesis http://purl.obolibrary.org/obo/HP_0012629 HP:0012610 biolink:PhenotypicFeature Abnormality of urinary uric acid level Abnormal amount of urate in the urine. UMLS:C4022822 hp.json http://purl.obolibrary.org/obo/HP_0012610 HP:0012611 biolink:PhenotypicFeature obsolete Increased urinary urate hp.json http://purl.obolibrary.org/obo/HP_0012611 HP:0012612 biolink:PhenotypicFeature Abnormal urinary sulfate concentration Abnormal concentration of sulfate in the urine. UMLS:C4022821 hp.json Abnormal urinary sulphate concentration http://purl.obolibrary.org/obo/HP_0012612 HP:0000646 biolink:PhenotypicFeature Amblyopia Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. UMLS:C0002418|SNOMEDCT_US:387742006|MSH:D000550 hp.json Wandering eye|Lazy eye|Wandering eyes http://purl.obolibrary.org/obo/HP_0000646 hposlim_core HP:0000648 biolink:PhenotypicFeature Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. SNOMEDCT_US:76976005|MSH:D009896|UMLS:C0029124 hp.json Optic-nerve degeneration|Optic nerve atrophy http://purl.obolibrary.org/obo/HP_0000648 hposlim_core HP:0000647 biolink:PhenotypicFeature Sclerocornea A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. MSH:C565209|UMLS:C1853235 hp.json Hardening of skin and connective tissue http://purl.obolibrary.org/obo/HP_0000647 hposlim_core HP:0000649 biolink:PhenotypicFeature Abnormality of visual evoked potentials An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. UMLS:C0522214|SNOMEDCT_US:102968003 hp.json Abnormal visual-evoked potentials|Abnormal visual evoked potential|Abnormal vision evoked potentials|Abnormal visual evoked responses|VEP abnormalities http://purl.obolibrary.org/obo/HP_0000649 hposlim_core HP:0000640 biolink:PhenotypicFeature Gaze-evoked nystagmus Nystagmus made apparent by looking to the right or to the left. UMLS:C0271390|MSH:D009760|SNOMEDCT_US:29356006 hp.json http://purl.obolibrary.org/obo/HP_0000640 HP:0000642 biolink:PhenotypicFeature Red-green dyschromatopsia Difficulty with discriminating red and green hues. UMLS:C0155016|SNOMEDCT_US:246674000|UMLS:C1970168|SNOMEDCT_US:77479002|MSH:D003117 hp.json Red green color blindness|Red/green color vision defect|Red/green colour vision defect|Dyschromatopsia with red-green confusion|Red green colour blindness http://purl.obolibrary.org/obo/HP_0000642 HP:0000641 biolink:PhenotypicFeature Dysmetric saccades The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. UMLS:C1836392 hp.json Dysmetric eye saccades|Dysmetric eye movements|Uncoordinated eye movement http://purl.obolibrary.org/obo/HP_0000641 hposlim_core HP:0000643 biolink:PhenotypicFeature Blepharospasm A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. MSH:D001764|UMLS:C0005747|SNOMEDCT_US:59026006 hp.json Eyelid twitching|Eyelid spasm|Spontaneous closure of eyelid|Involuntary closure of eyelid http://purl.obolibrary.org/obo/HP_0000643 HP:0012613 biolink:PhenotypicFeature Increased urinary sulfate Elevated concentration of SO4(2-), i.e., sulfate, in the urine. UMLS:C4022820 hp.json Increased urinary sulphate http://purl.obolibrary.org/obo/HP_0012613 HP:0012614 biolink:PhenotypicFeature Abnormal urine cytology An anomalous finding in the examination of the urine for cells. UMLS:C0587955|SNOMEDCT_US:310439007 hp.json http://purl.obolibrary.org/obo/HP_0012614 HP:0012615 biolink:PhenotypicFeature Cylindruria The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine. SNOMEDCT_US:5277004|UMLS:C0151990 hp.json Urinary casts http://purl.obolibrary.org/obo/HP_0012615 HP:0012616 biolink:PhenotypicFeature Leukocyte cylindruria Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. UMLS:C4022819 hp.json White blood cell casts http://purl.obolibrary.org/obo/HP_0012616 HP:0012617 biolink:PhenotypicFeature Erythrocyte cylindruria Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. UMLS:C4022818 hp.json Urinary erythrocyte cast|Red blood cell casts http://purl.obolibrary.org/obo/HP_0012617 HP:0012618 biolink:PhenotypicFeature Urachal cyst A cyst located along the allantois canal. SNOMEDCT_US:17234001|MSH:D014496|UMLS:C0041915 hp.json http://purl.obolibrary.org/obo/HP_0012618 HP:0012619 biolink:PhenotypicFeature Multiple bladder diverticula Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. UMLS:C4022817 hp.json Multiple pouches in bladder wall http://purl.obolibrary.org/obo/HP_0012619 HP:0012600 biolink:PhenotypicFeature Abnormal urine chloride concentration An abnormal concentration of chloride in the urine. UMLS:C4022827 hp.json Abnormal urine Cl- concentration|Abnormal urine Cl concentration http://purl.obolibrary.org/obo/HP_0012600 HP:0012601 biolink:PhenotypicFeature Hypochloriduria An decreased concentration of chloride in the urine. UMLS:C4021078 hp.json Decreased urinary chloride|Low urine chloride levels http://purl.obolibrary.org/obo/HP_0012601 HP:0000613 biolink:PhenotypicFeature Photophobia Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. UMLS:C4020887|UMLS:C0085636|MSH:D020795|SNOMEDCT_US:409668002|SNOMEDCT_US:246622003 hp.json Extreme sensitivity of the eyes to light|Light hypersensitivity|Photodysphoria http://purl.obolibrary.org/obo/HP_0000613 hposlim_core HP:0000612 biolink:PhenotypicFeature Iris coloboma A coloboma of the iris. UMLS:C0240063 hp.json Keyhole iris|Cat eye|Coloboma of iris|Coloboma of the iris http://purl.obolibrary.org/obo/HP_0000612 hposlim_core HP:0000615 biolink:PhenotypicFeature Abnormal pupil morphology An abnormality of the pupil. UMLS:C0154936|SNOMEDCT_US:274093008 hp.json Abnormality of the pupil|Pupillary abnormality|Pupillary abnormalities|Abnormal pupillary morphology http://purl.obolibrary.org/obo/HP_0000615 hposlim_core HP:0000614 biolink:PhenotypicFeature Abnormal nasolacrimal system morphology An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. UMLS:C4025835 hp.json Abnormality of the nasolacrimal system http://purl.obolibrary.org/obo/HP_0000614 hposlim_core HP:0000617 biolink:PhenotypicFeature Abnormality of ocular smooth pursuit An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. UMLS:C1836393 hp.json Disrupted ocular pursuit movements|Impaired smooth pursuit ocular movements|Abnormal smooth pursuits|Irregular visual pursuit movements http://purl.obolibrary.org/obo/HP_0000617 HP:0000616 biolink:PhenotypicFeature Miosis Abnormal (non-physiological) constriction of the pupil. MSH:D015877|UMLS:C0026205|SNOMEDCT_US:63251006 hp.json Constricted pupils|Pupillary constriction http://purl.obolibrary.org/obo/HP_0000616 hposlim_core HP:0000619 biolink:PhenotypicFeature Impaired convergence Reduced ability to turn the eyes inward in order to focus on a nearby object. MSH:D015835|UMLS:C0271379|SNOMEDCT_US:194131002 hp.json Convergence insufficiency http://purl.obolibrary.org/obo/HP_0000619 HP:0000618 biolink:PhenotypicFeature Blindness Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. Fyler:4866|UMLS:C0456909|UMLS:C0271215|SNOMEDCT_US:65956007|MSH:D001766 hp.json Legal blindness|Blindness|Total vision loss http://purl.obolibrary.org/obo/HP_0000618 hposlim_core CHEBI:15428 biolink:ChemicalSubstance glycine The simplest (and the only achiral) proteinogenic amino acid, with a hydrogen atom as its side chain. PMID:22079563|PMID:22434786|PMID:18840508|CAS:56-40-6|PMID:19120667|PMID:19916621|Drug_Central:1319|PMID:22293292|HMDB:HMDB0000123|PMID:11174716|PMID:12770151|PMID:18593588|PMID:16444815|PMID:22401276|PMID:11542461|DrugBank:DB00145|PMID:16151895|PMID:10930630|PMID:19738917|PMID:18396796|PMID:16918424|PMID:16105183|PMID:22234938|Gmelin:1808|PMID:17582620|PMID:18440992|PMID:16664855|PMID:21751272|PMID:18816054|PMID:19544666|PMID:16417482|PMID:15331688|PMID:18079355|PMID:11806864|MetaCyc:GLY|ECMDB:ECMDB00123|PMID:22044190|PMID:19449910|KEGG:C00037|PMID:22264337|PMID:15388434|PMID:12631515|CAS:56-40-6|PMID:17154252|PMID:16998855|PMID:16986325|PMID:11019925|KNApSAcK:C00001361|PDBeChem:GLY|Wikipedia:Glycine|PMID:15710237|PMID:19526731|Beilstein:635782|PMID:16214212|PMID:17970719|PMID:12754315|KEGG:D00011|PMID:16901953|PMID:17383967|Reaxys:635782|PMID:12921899|PMID:19924257|PMID:19028609|YMDB:YMDB00016|CAS:56-40-6 hp.json Aminoessigsaeure|aminoacetic acid|glycine|Leimzucker|Glycocoll|H2N-CH2-COOH|aminoethanoic acid|Glycine|Hgly|Glykokoll|aminoethanoic acid|Aminoacetic acid|Glyzin|Gly|GLYCINE|Glycin|G http://purl.obolibrary.org/obo/CHEBI_15428 3_STAR HP:0000611 biolink:PhenotypicFeature obsolete Choroid coloboma hp.json http://purl.obolibrary.org/obo/HP_0000611 HP:0000610 biolink:PhenotypicFeature Abnormal choroid morphology Any structural abnormality of the choroid. UMLS:C0008521|UMLS:C4025836|MSH:D015862 hp.json Abnormality of the choroid|Choroid disease http://purl.obolibrary.org/obo/HP_0000610 hposlim_core HP:0012602 biolink:PhenotypicFeature Renal chloride wasting High urine chloride in the presence of hypochloridemia. UMLS:C4022826 hp.json Renal Cl wasting|Kidney chloride wasting|Renal Cl- wasting http://purl.obolibrary.org/obo/HP_0012602 HP:0012603 biolink:PhenotypicFeature Abnormal urine sodium concentration An abnormal concentration of sodium in the urine. UMLS:C4022825 hp.json Abnormal urine Na concentration|Abnormal urine Na+ levels http://purl.obolibrary.org/obo/HP_0012603 HP:0012604 biolink:PhenotypicFeature Hyponatriuria An abnormally decreased sodium concentration in the urine. UMLS:C4022824 hp.json Low urine sodium levels http://purl.obolibrary.org/obo/HP_0012604 HP:0012605 biolink:PhenotypicFeature Hypernatriuria An increased concentration of sodium(1+) in the urine. UMLS:C3671887 hp.json Increased urinary sodium http://purl.obolibrary.org/obo/HP_0012605 HP:0012606 biolink:PhenotypicFeature Renal sodium wasting An abnormally increased sodium concentration in the urine in the presence of hyponatremia. UMLS:C2748576 hp.json Kidney sodium wasting|Renal Na+ wasting|Renal Na wasting http://purl.obolibrary.org/obo/HP_0012606 HP:0012607 biolink:PhenotypicFeature Abnormal urine magnesium concentration An abnormal concentration of magnesium the urine. UMLS:C4022823 hp.json Abnormal urine magnesium concentration http://purl.obolibrary.org/obo/HP_0012607 HP:0012608 biolink:PhenotypicFeature Hypermagnesiuria An increased concentration of magnesium the urine. UMLS:C2673443 hp.json http://purl.obolibrary.org/obo/HP_0012608 HP:0012609 biolink:PhenotypicFeature Hypomagnesiuria An decreased concentration of magnesium the urine. UMLS:C3203528 hp.json Low urine magnesium levels|Decreased urine magnesium http://purl.obolibrary.org/obo/HP_0012609 UBERON:0019042 biolink:AnatomicalEntity reproductive system mucosa BTO:0002439 hp.json genital mucosa http://purl.obolibrary.org/obo/UBERON_0019042 HP:0000623 biolink:PhenotypicFeature Supranuclear ophthalmoplegia A vertical gaze palsy with inability to direct the gaze of the eyes downwards. UMLS:C1408507 hp.json http://purl.obolibrary.org/obo/HP_0000623 hposlim_core HP:0000625 biolink:PhenotypicFeature Eyelid coloboma A short discontinuity of the margin of the lower or upper eyelid. UMLS:C0521573|SNOMEDCT_US:95202004 hp.json Full thickness defect of the eyelid|Notched eyelid|Cleft eyelid http://purl.obolibrary.org/obo/HP_0000625 hposlim_core HP:0000627 biolink:PhenotypicFeature Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. SNOMEDCT_US:392437005|UMLS:C0546967|SNOMEDCT_US:253228006|UMLS:C0344531 hp.json Embryotoxon http://purl.obolibrary.org/obo/HP_0000627 hposlim_core HP:0000629 biolink:PhenotypicFeature Periorbital fullness Increase in periorbital soft tissue. UMLS:C1858036 hp.json Periorbital swelling|Fullness around the eyes|Swelling around the eyes|Periorbital puffiness|Puffy eyes|Puffiness around eye http://purl.obolibrary.org/obo/HP_0000629 HP:0000620 biolink:PhenotypicFeature Dacryocystitis Inflammation of the nasolacrimal sac. SNOMEDCT_US:85777005|UMLS:C0010930|MSH:D003607 hp.json Infection of the lacrimal sac|Dacrocystitis http://purl.obolibrary.org/obo/HP_0000620 HP:0000622 biolink:PhenotypicFeature Blurred vision Lack of sharpness of vision resulting in the inability to see fine detail. SNOMEDCT_US:246636008|SNOMEDCT_US:111516008|UMLS:C0344232 hp.json Blurred vision http://purl.obolibrary.org/obo/HP_0000622 hposlim_core HP:0000621 biolink:PhenotypicFeature Entropion An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. UMLS:C0014390|SNOMEDCT_US:33168009|MSH:D004774 hp.json Inverted eyelid|Eyelid folded in|Eyelid turned in http://purl.obolibrary.org/obo/HP_0000621 hposlim_core HP:0012660 biolink:PhenotypicFeature Thalamic hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan. UMLS:C4022796 hp.json http://purl.obolibrary.org/obo/HP_0012660 HP:0012661 biolink:PhenotypicFeature Hypothalamic hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan. UMLS:C4022795 hp.json http://purl.obolibrary.org/obo/HP_0012661 HP:0012662 biolink:PhenotypicFeature Parietal hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan. UMLS:C4022794 hp.json http://purl.obolibrary.org/obo/HP_0012662 HP:0012663 biolink:PhenotypicFeature Mildly reduced left ventricular ejection fraction A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent. UMLS:C4022793 hp.json Mildly reduced ejection fraction http://purl.obolibrary.org/obo/HP_0012663 HP:0012664 biolink:PhenotypicFeature Reduced left ventricular ejection fraction A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. UMLS:C4022792 hp.json Reduced ejection fraction http://purl.obolibrary.org/obo/HP_0012664 HP:0012665 biolink:PhenotypicFeature Moderately reduced left ventricular ejection fraction A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent. UMLS:C4022791 hp.json Moderately reduced ejection fraction http://purl.obolibrary.org/obo/HP_0012665 HP:0012666 biolink:PhenotypicFeature Severely reduced left ventricular ejection fraction A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. UMLS:C4022790 hp.json Severely reduced ejection fraction http://purl.obolibrary.org/obo/HP_0012666 HP:0012667 biolink:PhenotypicFeature Regional left ventricular wall motion abnormality An abnormal motion of a segment of the left ventricle during the cardiac cycle. UMLS:C4022789 hp.json http://purl.obolibrary.org/obo/HP_0012667 HP:0000679 biolink:PhenotypicFeature Taurodontia Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. UMLS:C4280616|UMLS:C0266039|SNOMEDCT_US:51744007|MSH:C536946 hp.json Large elongated pulp chamber|Taurodontism|Taurodont http://purl.obolibrary.org/obo/HP_0000679 hposlim_core UBERON:0034670 biolink:AnatomicalEntity palatal taste bud A taste bud that is located on the soft palate, in the roof of the mouth. hp.json taste bud of palate http://purl.obolibrary.org/obo/UBERON_0034670 HP:0010005 biolink:PhenotypicFeature Partial duplication of the middle phalanges of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. UMLS:C4024115 hp.json Partial duplication of the middle bones of hand http://purl.obolibrary.org/obo/HP_0010005 HP:0000678 biolink:PhenotypicFeature Dental crowding Changes in alignment of teeth in the dental arch SNOMEDCT_US:12351004|MSH:D008310|UMLS:C1317785|UMLS:C0040433|UMLS:C4280618|UMLS:C4280617|SNOMEDCT_US:699222000 hp.json Overcrowding of teeth|Dental overcrowding|Inadequate arch length for tooth size|Crowded teeth|Dental crowding|Tooth mass arch size discrepancy|Tooth size discrepancy http://purl.obolibrary.org/obo/HP_0000678 hposlim_core HP:0010004 biolink:PhenotypicFeature Partial duplication of the distal phalanges of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. UMLS:C4021348 hp.json Partial duplication of the outermost bone of the hand|Bifid terminal phalanges of the hand http://purl.obolibrary.org/obo/HP_0010004 HP:0010003 biolink:PhenotypicFeature Partial duplication of the proximal phalanges of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. UMLS:C4024116 hp.json Partial duplication of the innermost bones of the hand http://purl.obolibrary.org/obo/HP_0010003 HP:0010002 biolink:PhenotypicFeature Complete duplication of the middle phalanges of the hand A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. UMLS:C4024117 hp.json Complete duplication of the middle bones of the hand http://purl.obolibrary.org/obo/HP_0010002 HP:0010001 biolink:PhenotypicFeature Complete duplication of the distal phalanges of the hand A complete duplication affecting one or more of the distal phalanges of the hand. UMLS:C4024118 hp.json Complete duplication of the outermost bones of the hand http://purl.obolibrary.org/obo/HP_0010001 HP:0010000 biolink:PhenotypicFeature Complete duplication of the proximal phalanges of the hand A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. UMLS:C4024119 hp.json Complete duplication of the innermost bones of the hand http://purl.obolibrary.org/obo/HP_0010000 HP:0000670 biolink:PhenotypicFeature Carious teeth Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. UMLS:C4280623|SNOMEDCT_US:80967001|MSH:D003731|UMLS:C0011334 hp.json Tooth decay|Dental cavities|Frequent caries|Cariosity of teeth|Early dental caries|Tooth cavities|Caries|Dental caries|Rotting teeth|Dental decay http://purl.obolibrary.org/obo/HP_0000670 hposlim_core HP:0000675 biolink:PhenotypicFeature Macrodontia of permanent maxillary central incisor Increased size of the maxillary central secondary incisor tooth. UMLS:C1835095|UMLS:C4280621|UMLS:C4280620|UMLS:C4280263 hp.json Large permanent maxillary central incisor|Hypertrophy of permanent maxillary central incisor|Increased width of permanent maxillary central incisor|Large permanent upper central incisor|Increased width of permanent upper central incisor|Increased size of permanent maxillary central incisor|Increased size of permanent upper central incisor|Long maxillary central incisors|Prominent, protruding upper incisors|Hyperplasia of permanent maxillary central incisor|Prominent upper incisors http://purl.obolibrary.org/obo/HP_0000675 HP:0010009 biolink:PhenotypicFeature Abnormal 1st metacarpal morphology A structural anomaly of the first metacarpal. UMLS:C4024114 hp.json Abnormality of the 1st long bone of hand|Abnormality of the 1st metacarpal http://purl.obolibrary.org/obo/HP_0010009 HP:0000674 biolink:PhenotypicFeature Anodontia The absence of all teeth from the normal series by a failure to develop. SNOMEDCT_US:26624006|UMLS:C4280622|MSH:D000848|UMLS:C0399352|SNOMEDCT_US:16958000 hp.json Complete agenesis of all teeth|Complete anodontia|Missing all teeth|Total absence of all teeth|Failure of development of all teeth|Total anodontia|Complete dental agenesis|Anodontia vera http://purl.obolibrary.org/obo/HP_0000674 HP:0010008 biolink:PhenotypicFeature Duplication of the middle phalanx of hand This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. UMLS:C4021346 hp.json Partial/complete duplication of the middle phalanges of the hand|Duplication of the middle bones of hand http://purl.obolibrary.org/obo/HP_0010008 HP:0000677 biolink:PhenotypicFeature Oligodontia The absence of six or more teeth from the normal series by a failure to develop. UMLS:C4082304|UMLS:C4280619 hp.json Failure of development of more than six teeth|Partial anodontia|Number of teeth decreased by more than six|Missing more than six teeth http://purl.obolibrary.org/obo/HP_0000677 HP:0010006 biolink:PhenotypicFeature Duplication of the proximal phalanx of hand This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. UMLS:C4021347 hp.json Duplication of the innermost bones of hand|Partial/complete duplication of the proximal phalanges of the hand http://purl.obolibrary.org/obo/HP_0010006 HP:0000676 biolink:PhenotypicFeature Abnormality of the incisor An abnormality of the Incisor tooth. UMLS:C4025833 hp.json http://purl.obolibrary.org/obo/HP_0000676 HP:0012668 biolink:PhenotypicFeature Vasovagal syncope SNOMEDCT_US:398665005|UMLS:C0042420|SNOMEDCT_US:398652001|MSH:D019462|SNOMEDCT_US:234167006|UMLS:C0340854|MSH:D013575 hp.json Reflex syncope|Neurocardiogenic syncope|Situational syncope http://purl.obolibrary.org/obo/HP_0012668 HP:0009005 biolink:PhenotypicFeature Weakness of the intrinsic hand muscles UMLS:C1834536 hp.json Intrinsic hand muscle weakness http://purl.obolibrary.org/obo/HP_0009005 HP:0012669 biolink:PhenotypicFeature Carotid sinus syncope An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion. UMLS:C0221046|SNOMEDCT_US:51723007|MSH:D013575 hp.json http://purl.obolibrary.org/obo/HP_0012669 HP:0009004 biolink:PhenotypicFeature Hypoplasia of the musculature Underdevelopment of the musculature. UMLS:C0240414|SNOMEDCT_US:205530002 hp.json Poorly developed skeletal musculature|Underdeveloped muscle|Underdeveloped muscles|Muscle hypoplasia http://purl.obolibrary.org/obo/HP_0009004 HP:0009007 biolink:PhenotypicFeature Biceps hypoplasia Underdevelopment of the biceps muscle. UMLS:C1862499 hp.json Underdeveloped biceps|Hypoplastic biceps http://purl.obolibrary.org/obo/HP_0009007 HP:0009003 biolink:PhenotypicFeature Increased subcutaneous truncal adipose tissue The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. UMLS:C1837781 hp.json Increased fat below the skin in trunk http://purl.obolibrary.org/obo/HP_0009003 HP:0009002 biolink:PhenotypicFeature Loss of truncal subcutaneous adipose tissue Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. UMLS:C1835384 hp.json Loss of truncal adipose tissue|Loss of fat tissue in trunk|Loss of subcutaneous truncal adipose tissue http://purl.obolibrary.org/obo/HP_0009002 HP:0012650 biolink:PhenotypicFeature Perisylvian polymicrogyria Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. UMLS:C3279675 hp.json Frontoparietal polymicrogyria http://purl.obolibrary.org/obo/HP_0012650 HP:0012651 biolink:PhenotypicFeature Abasia A severe form of gait ataxia such that an affected person cannot walk at all. UMLS:C0877217 hp.json http://purl.obolibrary.org/obo/HP_0012651 HP:0009020 biolink:PhenotypicFeature Exercise-induced muscle fatigue An abnormally increased tendency towards muscle fatigue induced by physical exercise. UMLS:C1855580 hp.json http://purl.obolibrary.org/obo/HP_0009020 HP:0012652 biolink:PhenotypicFeature Exercise-induced asthma Asthma attacks following exercise. MSH:D001250|SNOMEDCT_US:31387002|UMLS:C0004099 hp.json Exercise-induced asthma http://purl.obolibrary.org/obo/HP_0012652 HP:0012653 biolink:PhenotypicFeature Status asthmaticus Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine. UMLS:C0038218|SNOMEDCT_US:708090002|MSH:D013224 hp.json Acute severe asthma http://purl.obolibrary.org/obo/HP_0012653 HP:0012654 biolink:PhenotypicFeature Abnormal CSF dopamine concentration Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). UMLS:C4022802 hp.json Abnormal CSF dopamine level http://purl.obolibrary.org/obo/HP_0012654 HP:0012655 biolink:PhenotypicFeature Elevated CSF dopamine level Increased concentration of dopamine in the cerebrospinal fluid (CSF). UMLS:C4022801 hp.json http://purl.obolibrary.org/obo/HP_0012655 HP:0012656 biolink:PhenotypicFeature Reduced CSF dopamine level Decreased concentration of dopamine in the cerebrospinal fluid (CSF). UMLS:C4022800 hp.json http://purl.obolibrary.org/obo/HP_0012656 UBERON:0034681 biolink:AnatomicalEntity vocal organ Any organ that is the primary organ of vocalization behavior. Examples: The laryngeal vocal cord (humans), the syrinx (birds). hp.json http://purl.obolibrary.org/obo/UBERON_0034681 HP:0000689 biolink:PhenotypicFeature Dental malocclusion Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. UMLS:C4280614|UMLS:C4280613|SNOMEDCT_US:707598004|MSH:D008310|SNOMEDCT_US:47944004|UMLS:C0024636 hp.json Bad bite|Bilateral crossbite malocclusion|Angle class 2 malocclusion|Angle class 3 malocclusion|Bilateral crossbite|Incorrect relation between upper and lower dental arches|Malocclusion|Malocclusion of teeth|Occlusion anomaly|Malalignment of upper and lower dental arches|Misalignment of upper and lower dental arches http://purl.obolibrary.org/obo/HP_0000689 HP:0000682 biolink:PhenotypicFeature Abnormal dental enamel morphology An abnormality of the dental enamel. UMLS:C4021800|UMLS:C4280262|UMLS:C4280615 hp.json Enamel abnormality|Enamel abnormalities|Malformation of dental enamel|Malformation of tooth enamel|Abnormal tooth enamel|Dystrophic tooth enamel|Abnormality of dental enamel|Defective tooth enamel http://purl.obolibrary.org/obo/HP_0000682 hposlim_core HP:0000684 biolink:PhenotypicFeature Delayed eruption of teeth Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. SNOMEDCT_US:5639000|UMLS:C0239174 hp.json Eruption, delayed|Delayed teeth eruption|Delayed tooth eruption|Late tooth eruption|Delayed eruption|Late eruption of teeth|Delayed dental eruption|Delayed dental development|Delayed eruption of teeth http://purl.obolibrary.org/obo/HP_0000684 hposlim_core HP:0000683 biolink:PhenotypicFeature Grayish enamel A grey discoloration of the dental enamel. UMLS:C1854783 hp.json Grey coloured tooth enamel|Grayish enamel|Gray colored tooth enamel|Grey tooth shade|Greyish enamel|Gray tooth shade http://purl.obolibrary.org/obo/HP_0000683 HP:0000685 biolink:PhenotypicFeature Hypoplasia of teeth Developmental hypoplasia of teeth. UMLS:C0235357|UMLS:C4280611 hp.json Underdevelopment of teeth|Hypoplastic teeth|Decreased size of teeth http://purl.obolibrary.org/obo/HP_0000685 HP:0009019 biolink:PhenotypicFeature Progressive loss of facial adipose tissue UMLS:C1837510 hp.json Progressive loss of subcutaneous adipose tissue from face|Facial fat wasting|Atrophy of facial adipose tissue|Facial fat atrophy|Progressive loss of facial subcutaneous adipose tissue|Progressive loss of facial fat|Loss of subcutaneous adipose tissue from face, progressive http://purl.obolibrary.org/obo/HP_0009019 HP:0000687 biolink:PhenotypicFeature Widely spaced teeth Increased spaces (diastemata) between most of the teeth in the same dental arch. UMLS:C1844813 hp.json Generalised spacing of teeth|Multiple diastemata|Widely-spaced teeth|Wide-spaced teeth|Generalized dental spacing|Generalised dental spacing|Generalized spacing of teeth|Widely spaced teeth http://purl.obolibrary.org/obo/HP_0000687 hposlim_core HP:0009016 biolink:PhenotypicFeature Upper limb muscle hypoplasia Underdevelopment of muscles of the arm. UMLS:C1846478 hp.json Underdevelopment of upper limb muscles http://purl.obolibrary.org/obo/HP_0009016 HP:0012657 biolink:PhenotypicFeature Abnormal brain positron emission tomography A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain. UMLS:C4022799 hp.json Abnormal brain PET scan http://purl.obolibrary.org/obo/HP_0012657 HP:0012658 biolink:PhenotypicFeature Abnormal brain FDG positron emission tomography An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. UMLS:C4022798 hp.json Abnormal brain FDG PET scan http://purl.obolibrary.org/obo/HP_0012658 HP:0012659 biolink:PhenotypicFeature Prefrontal hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan. UMLS:C4022797 hp.json http://purl.obolibrary.org/obo/HP_0012659 HP:0009017 biolink:PhenotypicFeature Loss of gluteal subcutaneous adipose tissue Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. UMLS:C4024606 hp.json Loss of fat tissue below the skin in gluts http://purl.obolibrary.org/obo/HP_0009017 HP:0009011 biolink:PhenotypicFeature Hypoplasia of serratus anterior muscle Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula. UMLS:C1868167 hp.json http://purl.obolibrary.org/obo/HP_0009011 HP:0000680 biolink:PhenotypicFeature Delayed eruption of primary teeth Delayed tooth eruption affecting the primary dentition. UMLS:C1849538 hp.json Delayed eruption of baby teeth|Late eruption of primary teeth|Late eruption of baby teeth|Delayed primary teeth eruption|Delayed eruption of milk teeth|Delayed eruption of deciduous teeth|Late eruption of milk teeth http://purl.obolibrary.org/obo/HP_0000680 HP:0009013 biolink:PhenotypicFeature Congenital absence of gluteal muscles UMLS:C2930932|MSH:C535561 hp.json http://purl.obolibrary.org/obo/HP_0009013 HP:0012640 biolink:PhenotypicFeature Abnormality of intracranial pressure A deviation from the norm of the intracranial pressure. UMLS:C4022809 hp.json http://purl.obolibrary.org/obo/HP_0012640 HP:0012641 biolink:PhenotypicFeature Decreased intracranial pressure A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. SNOMEDCT_US:167714004|SNOMEDCT_US:277657001|UMLS:C0456892 hp.json Intracranial hypotension http://purl.obolibrary.org/obo/HP_0012641 HP:0012642 biolink:PhenotypicFeature Cerebellar agenesis Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles. UMLS:C4022808 hp.json http://purl.obolibrary.org/obo/HP_0012642 HP:0012643 biolink:PhenotypicFeature Foveal hypopigmentation Decreased amount of pigmentation in the fovea centralis. UMLS:C4022807 hp.json http://purl.obolibrary.org/obo/HP_0012643 HP:0012644 biolink:PhenotypicFeature Increased caudate lactate level An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging. UMLS:C4022806 hp.json http://purl.obolibrary.org/obo/HP_0012644 HP:0012645 biolink:PhenotypicFeature Enlarged peripheral nerve Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. UMLS:C2675074 hp.json Enlarged peripheral nerves http://purl.obolibrary.org/obo/HP_0012645 HP:0000657 biolink:PhenotypicFeature Oculomotor apraxia Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. UMLS:C3489733|SNOMEDCT_US:193662007|MSH:C537423|UMLS:C4020886 hp.json Defective or absent horizontal voluntary eye movements|Ocular motor apraxia http://purl.obolibrary.org/obo/HP_0000657 hposlim_core HP:0000656 biolink:PhenotypicFeature Ectropion An outward turning (eversion) or rotation of the eyelid margin. MSH:D004483|SNOMEDCT_US:62909004|UMLS:C0013592|SNOMEDCT_US:127559009 hp.json Eyelid turned out|Eyelid folded out|Everted eyelid http://purl.obolibrary.org/obo/HP_0000656 hposlim_core HP:0000659 biolink:PhenotypicFeature Peters anomaly A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. UMLS:C0344559|MSH:C537884|SNOMEDCT_US:204153003 hp.json http://purl.obolibrary.org/obo/HP_0000659 hposlim_core HP:0000658 biolink:PhenotypicFeature Eyelid apraxia SNOMEDCT_US:423142006|UMLS:C1142448 hp.json Difficulty opening the eyelids http://purl.obolibrary.org/obo/HP_0000658 HP:0000651 biolink:PhenotypicFeature Diplopia Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. SNOMEDCT_US:24982008|MSH:D004172|UMLS:C0012569 hp.json Double vision http://purl.obolibrary.org/obo/HP_0000651 hposlim_core HP:0000650 biolink:PhenotypicFeature Abnormal amplitude of pattern reversal visual evoked potentials UMLS:C4025834 hp.json http://purl.obolibrary.org/obo/HP_0000650 HP:0000653 biolink:PhenotypicFeature Sparse eyelashes Decreased density/number of eyelashes. UMLS:C1843300 hp.json Sparse eyelashes|Partial absence of eyelashes|Hypotrichosis of eyelashes|Thin eyelashes|Scant eyelashes|Scanty eyelashes http://purl.obolibrary.org/obo/HP_0000653 hposlim_core HP:0000652 biolink:PhenotypicFeature Lower eyelid coloboma A short discontinuity of the margin of the lower eyelid. UMLS:C1837826 hp.json Coloboma of lower eyelid|Lower lid coloboma|Notched lower eyelid|Full thickness defect of the lower eyelid|Cleft lower eyelid http://purl.obolibrary.org/obo/HP_0000652 HP:0000655 biolink:PhenotypicFeature obsolete Vitreoretinal degeneration hp.json http://purl.obolibrary.org/obo/HP_0000655 HP:0000654 biolink:PhenotypicFeature Decreased light- and dark-adapted electroretinogram amplitude Descreased amplitude of eletrical response upon electroretinography. UMLS:C1839025 hp.json Reduced or abolished electroretinogram|Decreased electroretinogram response|Reduced electroretinogram|Reduced ERG|Decreased amplitudes on flash visual electroretinogram|Flattened or absent electroretinogram|Decreased electroretinogram amplitude|Decreased ERG amplitude|Decreased electroretinogram http://purl.obolibrary.org/obo/HP_0000654 HP:0012646 biolink:PhenotypicFeature Retractile testis A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex. UMLS:C0520578|SNOMEDCT_US:21779006 hp.json Retractile testicle http://purl.obolibrary.org/obo/HP_0012646 HP:0012647 biolink:PhenotypicFeature Abnormal inflammatory response Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. UMLS:C4022805 hp.json Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0012647 HP:0012648 biolink:PhenotypicFeature Decreased inflammatory response An abnormal reduction in the inflammatory response to injury or infection. UMLS:C4022804 hp.json Decreased inflammatory response http://purl.obolibrary.org/obo/HP_0012648 HP:0012649 biolink:PhenotypicFeature Increased inflammatory response A abnormal increase in the inflammatory response to injury or infection. UMLS:C4022803 hp.json http://purl.obolibrary.org/obo/HP_0012649 HP:0012630 biolink:PhenotypicFeature Abnormal trabecular meshwork morphology An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm. UMLS:C4022814 hp.json Abnormality of the trabecular meshwork http://purl.obolibrary.org/obo/HP_0012630 HP:0012631 biolink:PhenotypicFeature Pigment deposition in the trabecular meshwork Accumulation of abnormal amounts of pigment within the trabecular meshwork. UMLS:C3805899 hp.json http://purl.obolibrary.org/obo/HP_0012631 HP:0012632 biolink:PhenotypicFeature Abnormal intraocular pressure An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. UMLS:C0520999|MP:0005257|SNOMEDCT_US:24075007 hp.json Abnormal intraocular pressure|Abnormal eye pressure http://purl.obolibrary.org/obo/HP_0012632 HP:0012633 biolink:PhenotypicFeature Asymmetry of intraocular pressure A difference in the amount of intraocular pressure in the right and left eye. UMLS:C3805901 hp.json http://purl.obolibrary.org/obo/HP_0012633 HP:0012634 biolink:PhenotypicFeature Iris pigment dispersion Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor. UMLS:C4022813 hp.json http://purl.obolibrary.org/obo/HP_0012634 HP:0000668 biolink:PhenotypicFeature Hypodontia The absence of five or less teeth from the normal series by a failure to develop. SNOMEDCT_US:64969001|MSH:D000848|UMLS:C0020608 hp.json Missing between one and six teeth|Failure of development of between one and six teeth http://purl.obolibrary.org/obo/HP_0000668 hposlim_core HP:0000667 biolink:PhenotypicFeature Phthisis bulbi Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. SNOMEDCT_US:4229009|UMLS:C0271007 hp.json http://purl.obolibrary.org/obo/HP_0000667 hposlim_core HP:0000660 biolink:PhenotypicFeature Lipemia retinalis A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. SNOMEDCT_US:95692001|UMLS:C0339477 hp.json http://purl.obolibrary.org/obo/HP_0000660 HP:0000662 biolink:PhenotypicFeature Nyctalopia Inability to see well at night or in poor light. MSH:D009755|UMLS:C4020885|UMLS:C0028077|SNOMEDCT_US:65194006 hp.json Night-blindness|Night blindness|Poor night vision|Difficulties with night vision http://purl.obolibrary.org/obo/HP_0000662 hposlim_core HP:0000661 biolink:PhenotypicFeature Palpebral fissure narrowing on adduction UMLS:C1846465 hp.json http://purl.obolibrary.org/obo/HP_0000661 HP:0000664 biolink:PhenotypicFeature Synophrys Meeting of the medial eyebrows in the midline. SNOMEDCT_US:253207002|UMLS:C0431447 hp.json Synophris|Monobrow|Unibrow http://purl.obolibrary.org/obo/HP_0000664 hposlim_core HP:0000666 biolink:PhenotypicFeature Horizontal nystagmus Nystagmus consisting of horizontal to-and-fro eye movements. UMLS:C0271385|SNOMEDCT_US:81756001|MSH:D009759 hp.json Nystagmus, horizontal http://purl.obolibrary.org/obo/HP_0000666 hposlim_core HP:0012635 biolink:PhenotypicFeature Iris hypoperfusion Reduction in the amount of blood flow to the iris. UMLS:C4022812 hp.json http://purl.obolibrary.org/obo/HP_0012635 HP:0012636 biolink:PhenotypicFeature Retinal vein occlusion Blockage of the retinal vein. SNOMEDCT_US:46085004|UMLS:C0035328|MSH:D012170 hp.json http://purl.obolibrary.org/obo/HP_0012636 HP:0012637 biolink:PhenotypicFeature Renal calcium wasting High urine calcium in the presence of hypocalcemia. UMLS:C2673441 hp.json Kidney Ca wasting|Renal Ca2+ wasting|Kidney Ca2+ wasting|Renal Ca wasting|Kidney calcium wasting http://purl.obolibrary.org/obo/HP_0012637 HP:0012638 biolink:PhenotypicFeature Abnormal nervous system physiology A functional anomaly of the nervous system. UMLS:C4022811 hp.json Abnormality of nervous system physiology http://purl.obolibrary.org/obo/HP_0012638 HP:0012639 biolink:PhenotypicFeature Abnormal nervous system morphology A structural anomaly of the nervous system. UMLS:C4022810|Fyler:4300|Fyler:4135 hp.json Abnormality of nervous system morphology|Abnormal shape of nervous system http://purl.obolibrary.org/obo/HP_0012639 CL:0000525 biolink:Cell syncytiotrophoblast cell A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo, directly associated with the maternal blood supply. It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy. FMA:83043 hp.json syntrophoblast|syncytial trophoblast|plasmidotrophoblast http://purl.obolibrary.org/obo/CL_0000525 CL:0000526 biolink:Cell afferent neuron A neuron which conveys sensory information centrally from the periphery. FMA:87653 hp.json input neuron http://purl.obolibrary.org/obo/CL_0000526 CHEBI:27470 biolink:ChemicalSubstance folic acid An N-acyl-amino acid that is a form of the water-soluble vitamin B9. Its biologically active forms (tetrahydrofolate and others) are essential for nucleotide biosynthesis and homocysteine remethylation. PMID:19335717|KNApSAcK:C00001539|CAS:59-30-3|PMID:19355913|PMID:24650098|PMID:17784727|PMID:34219855|PMID:10897644|AGR:IND606960789|PMID:8235383|PMID:15523939|DrugBank:DB00158|PMID:7738698|CAS:59-30-3|PMID:9420019|PMID:19121630|CAS:59-30-3|KEGG:C00504|PMID:15990733|HMDB:HMDB0000121|PMID:18788725|PMID:16380297|PMID:11451208|KEGG:D00070|PMID:16277678|PMID:14387833|FooDB:FDB014504|PMID:33965562|Beilstein:100781|PMID:33968971|PMID:33624660|PMID:15754725|PMID:9808641|MetaCyc:CPD-12826|Reaxys:100781|PMID:10138938|Wikipedia:Folic_Acid|PMID:9808640|PMID:11959400|PMID:15831910|PMID:9565830|PMID:16871332|Chemspider:5815|PMID:11261364|Drug_Central:1231|LINCS:LSM-5355|PMID:15321809|PMID:34207319|PMID:16093404|PMID:15797685|PDBeChem:FOL|PMID:9683174|PMID:9781393|PMID:15797531|PMID:9040515|PMID:10958818 hp.json vitamin Be|Folate|Acfol|Folsaeure|pteroylmonoglutamic acid|vitamin Bc|vitamin M|Folicet|acidum folicum|PGA|N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid|(2S)-2-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzamido)pentanedioic acid|N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid|acide folique|pteroyl-L-glutamic acid|vitamin B9|pteroylglutamic acid|acido folico|folic acid|vitamin B11|pteroyl-L-monoglutamic acid|N-pteroyl-L-glutamic acid|PteGlu http://purl.obolibrary.org/obo/CHEBI_27470 3_STAR CL:0000527 biolink:Cell efferent neuron A neuron which sends impulses peripherally to activate muscles or secretory cells. hp.json output neuron http://purl.obolibrary.org/obo/CL_0000527 UBERON:0009678 biolink:AnatomicalEntity tooth row Anatomical cluster consisting of adjacent teeth constituting a row. FMA:59415|ZFA:0001642|TAO:0001667 hp.json tooth rows|row of teeth|dental arcade http://purl.obolibrary.org/obo/UBERON_0009678 UBERON:0009679 biolink:AnatomicalEntity set of lower jaw teeth A tooth row that is part of a skeleton of lower jaw. EHDAA2:0001029|FMA:55635 hp.json mandibular dental arcade|lower jaw teeth|arcus dentalis inferior|lower dental arcade|set of all lower teeth http://purl.obolibrary.org/obo/UBERON_0009679 pheno_slim UBERON:0007010 biolink:AnatomicalEntity cleaving embryo Organism at the cleavage stage. BILA:0000058 hp.json http://purl.obolibrary.org/obo/UBERON_0007010 CL:0000521 biolink:Cell fungal cell hp.json http://purl.obolibrary.org/obo/CL_0000521 UBERON:0009670 biolink:AnatomicalEntity rectal lumen An anatomical space that surrounded_by a rectum. FMA:14598|EMAPA:18388|SCTID:259740004|EHDAA2:0004587 hp.json lumen of rectum http://purl.obolibrary.org/obo/UBERON_0009670 UBERON:0009676 biolink:AnatomicalEntity early telencephalic vesicle EFO:0003562|EHDAA:1993|EHDAA2:0001981|EMAPA:16914|EHDAA:2671 hp.json early telencephalic vesicle|early telencephalic ventricle http://purl.obolibrary.org/obo/UBERON_0009676 efo_slim CHEBI:52424 biolink:ChemicalSubstance EC 3.2.1.* (glycosidase) inhibitor An EC 3.2.* (glycosylase) inhibitor that interferes with the action of any glycosidase (i.e. enzymes hydrolysing O- and S-glycosyl compounds, EC 3.2.1.*). hp.json EC 3.2.1.* inhibitors|glycosidase inhibitors|glycosidase (EC 3.2.1.*) inhibitor|glycosidase (EC 3.2.1.*) inhibitors|glycosidase inhibitor|EC 3.2.1.* inhibitor|glycoside hydrolase inhibitors|EC 3.2.1.* (glycosidase) inhibitors http://purl.obolibrary.org/obo/CHEBI_52424 3_STAR CHEBI:52425 biolink:ChemicalSubstance EC 3.2.1.18 (exo-alpha-sialidase) inhibitor An antiviral drug targeted at influenza viruses. Its mode of action consists of blocking the function of the viral neuraminidase protein (EC 3.2.1.18), thus preventing the virus from budding from the host cell. hp.json neuraminidase inhibitors|acetylneuraminyl hydrolase inhibitors|exo-alpha-sialidase (EC 3.2.1.18) inhibitor|alpha-neuraminidase inhibitors|exo-alpha-sialidase inhibitors|EC 3.2.1.18 (exo-alpha-sialidase) inhibitors|sialidase inhibitors|sialidase inhibitor|exo-alpha-sialidase inhibitor|alpha-neuraminidase inhibitor|exo-alpha-sialidase (EC 3.2.1.18) inhibitors|neuraminidase inhibitor|acetylneuraminyl hydrolase inhibitor|EC 3.2.1.18 inhibitors|N-acylneuraminate glycohydrolase inhibitors|acetylneuraminidase inhibitors|acetylneuraminidase inhibitor|N-acylneuraminate glycohydrolase inhibitor|EC 3.2.1.18 inhibitor http://purl.obolibrary.org/obo/CHEBI_52425 3_STAR GO:1904206 biolink:BiologicalProcess positive regulation of skeletal muscle hypertrophy Any process that activates or increases the frequency, rate or extent of skeletal muscle hypertrophy. hp.json up regulation of skeletal muscle hypertrophy|activation of skeletal muscle hypertrophy|upregulation of skeletal muscle hypertrophy|up-regulation of skeletal muscle hypertrophy http://purl.obolibrary.org/obo/GO_1904206 GO:1904205 biolink:BiologicalProcess negative regulation of skeletal muscle hypertrophy Any process that stops, prevents or reduces the frequency, rate or extent of skeletal muscle hypertrophy. hp.json down-regulation of skeletal muscle hypertrophy|down regulation of skeletal muscle hypertrophy|inhibition of skeletal muscle hypertrophy|downregulation of skeletal muscle hypertrophy http://purl.obolibrary.org/obo/GO_1904205 GO:1904204 biolink:BiologicalProcess regulation of skeletal muscle hypertrophy Any process that modulates the frequency, rate or extent of skeletal muscle hypertrophy. hp.json http://purl.obolibrary.org/obo/GO_1904204 UBERON:0009668 biolink:AnatomicalEntity ventral mesentery Ventral mesentery is the part of the peritoneum closest to the navel. EHDAA2:0004569 hp.json http://purl.obolibrary.org/obo/UBERON_0009668 UBERON:0009669 biolink:AnatomicalEntity embryonic cloacal lumen An anatomical space that surrounded_by a embryonic cloaca. EHDAA2:0004586 hp.json http://purl.obolibrary.org/obo/UBERON_0009669 CL:0000530 biolink:Cell primary neuron hp.json http://purl.obolibrary.org/obo/CL_0000530 CL:0000531 biolink:Cell primary sensory neuron hp.json http://purl.obolibrary.org/obo/CL_0000531 UBERON:0009661 biolink:AnatomicalEntity midbrain nucleus Nucleus located in the midbrain. TAO:0002209|ZFA:0001665|SCTID:279285003 hp.json http://purl.obolibrary.org/obo/UBERON_0009661 UBERON:0009662 biolink:AnatomicalEntity hindbrain nucleus Nucleus located within the hindbrain. ZFA:0001658|TAO:0002177 hp.json http://purl.obolibrary.org/obo/UBERON_0009662 UBERON:0009663 biolink:AnatomicalEntity telencephalic nucleus A nucleus of brain that is part of a telencephalon. ZFA:0001660|TAO:0002178 hp.json http://purl.obolibrary.org/obo/UBERON_0009663 UBERON:0009664 biolink:AnatomicalEntity gut mesentery MA:0003203|EMAPA:32911|EHDAA2:0004566 hp.json peritoneal cavity mesentary|peritoneal mesentary http://purl.obolibrary.org/obo/UBERON_0009664 UBERON:0007005 biolink:AnatomicalEntity cardiogenic splanchnic mesoderm The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. EHDAA:385|FMA:293143|AAO:0011021|VHOG:0001641|SCTID:360387000|XAO:0000235|BILA:0000051|EHDAA2:0000214|EFO:0000315 hp.json cardiogenic mesoderm|heart primordia|cardiac mesoderm|cardiogenic region|cardiogenic region|cardiogenic mesoderm|cardiogenic splanchnopleure http://purl.obolibrary.org/obo/UBERON_0007005 pheno_slim|efo_slim CL:0000509 biolink:Cell gastrin secreting cell A peptide hormone secreting cell that secretes gastrin. hp.json http://purl.obolibrary.org/obo/CL_0000509 CL:0000502 biolink:Cell type D enteroendocrine cell A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin. FMA:62935 hp.json D cell http://purl.obolibrary.org/obo/CL_0000502 CL:0000506 biolink:Cell enkephalin secreting cell An endorphine cell that secretes enkephalin. hp.json http://purl.obolibrary.org/obo/CL_0000506 CL:0000507 biolink:Cell endorphin secreting cell A peptide hormone secreting cell that secretes endorphin. hp.json http://purl.obolibrary.org/obo/CL_0000507 CL:0000508 biolink:Cell type G enteroendocrine cell An endocrine cell found in the pyloric gland mucosa (antral mucosa) of the stomach of mammals and responsible for the secretion of gastrin and enkephalin. Most abundant in pyloric antrum, pyramidal in form with a narrow apex bearing long microvilli. FMA:67609|BTO:0004108 hp.json G cell http://purl.obolibrary.org/obo/CL_0000508 UBERON:0009657 biolink:AnatomicalEntity artery of lip NCIT:C52947|UMLS:C1708633|MA:0001987|EMAPA:37092 hp.json labial artery http://purl.obolibrary.org/obo/UBERON_0009657 UBERON:0009651 biolink:AnatomicalEntity nephron tubule basement membrane A basement membrane that is part of a nephron tubule. MA:0001680|UMLS:C1709901|NCIT:C49273|EMAPA:37490 hp.json renal tubule basement membrane|renal tubular basement membrane|kidney tubule basement membrane http://purl.obolibrary.org/obo/UBERON_0009651 UBERON:0009652 biolink:AnatomicalEntity bronchus basement membrane A basement membrane that is part of a bronchus. EMAPA:37809|MA:0001832|UMLS:C1707051|NCIT:C49208 hp.json bronchial basement membrane http://purl.obolibrary.org/obo/UBERON_0009652 UBERON:0009653 biolink:AnatomicalEntity trachea basement membrane A basement membrane that is part of a trachea. NCIT:C49302|EMAPA:37552|UMLS:C1710455|MA:0001854 hp.json http://purl.obolibrary.org/obo/UBERON_0009653 UBERON:0009654 biolink:AnatomicalEntity alveolar artery A branch of the maxillary artery that is found in the gingiva, premolars, and molars. NCIT:C52848|EMAPA:37069|MA:0001913|UMLS:C1706783 hp.json http://purl.obolibrary.org/obo/UBERON_0009654 human_reference_atlas UBERON:0009655 biolink:AnatomicalEntity auricular artery An artery that supplies oxygenated blood to the ear. MA:0001918|NCIT:C52849|EMAPA:37072|UMLS:C1706858 hp.json http://purl.obolibrary.org/obo/UBERON_0009655 CL:0000513 biolink:Cell cardiac muscle myoblast A precursor cell destined to differentiate into cardiac muscle cell. FMA:84797 hp.json cardiac muscle progenitor cell|cardiomyocyte progenitor cell http://purl.obolibrary.org/obo/CL_0000513 CL:0000514 biolink:Cell smooth muscle myoblast A precursor cell destined to differentiate into smooth muscle myocytes. FMA:84798 hp.json myoblast, smooth muscle|satellite cell http://purl.obolibrary.org/obo/CL_0000514 CL:0000515 biolink:Cell skeletal muscle myoblast A myoblast that differentiates into skeletal muscle fibers. FMA:84799 hp.json skeletal myoblast http://purl.obolibrary.org/obo/CL_0000515 NCBITaxon:40674 biolink:OrganismalEntity Mammalia GC_ID:1 hp.json mammal-|mammals|mammal|mammals http://purl.obolibrary.org/obo/NCBITaxon_40674 UBERON:0009646 biolink:AnatomicalEntity lumbar sympathetic nerve trunk A sympathetic nerve trunk that is part of a lower back. FMA:6263|NCIT:C52828|EMAPA:37655|MA:0001163|UMLS:C1708762 hp.json lumbar sympathetic chain|lumbar sympathetic trunk|lumbar part of sympathetic trunk http://purl.obolibrary.org/obo/UBERON_0009646 CHEBI:39447 biolink:ChemicalSubstance pyrimidines Any compound having a pyrimidine as part of its structure. hp.json http://purl.obolibrary.org/obo/CHEBI_39447 3_STAR UBERON:0009647 biolink:AnatomicalEntity tympanic membrane epithelium One of the two epithelia which make up the tympanic membrane (along with the fibrous layer). EMAPA:19064|UMLS:C1711401|NCIT:C49308|MA:0001224 hp.json tympanic membrane epithelial layer|tympanic epithelium http://purl.obolibrary.org/obo/UBERON_0009647 UBERON:0009648 biolink:AnatomicalEntity eyelid subcutaneous connective tissue An eyelid connective tissue that is part of a hypodermis. FMA:63975|UMLS:C1707991|MA:0001252|NCIT:C49226|EMAPA:37533 hp.json superficial fascia of eyelid http://purl.obolibrary.org/obo/UBERON_0009648 CL:0000511 biolink:Cell androgen binding protein secreting cell A peptide hormone secreting cell that secretes androgen binding protein. hp.json http://purl.obolibrary.org/obo/CL_0000511 UBERON:0009640 biolink:AnatomicalEntity hypophyseal cartilage Forms around the developing pituitary, and together with prechordal cartilages creates body of sphenoid bone. hp.json http://purl.obolibrary.org/obo/UBERON_0009640 UBERON:0009644 biolink:AnatomicalEntity trachea non-cartilage connective tissue EMAPA:35878|MA:0001859 hp.json http://purl.obolibrary.org/obo/UBERON_0009644 UBERON:0010698 biolink:AnatomicalEntity manual digit metacarpus pre-cartilage condensation VHOG:0000953|EMAPA:32850 hp.json metacarpus pre-cartilage condensation|hand digit metacarpus pre-cartilage condensation|fore limb digit metacarpus pre-cartilage condensation|metacarpal pre-cartilage condensation|metacarpal bone pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010698 UBERON:0010699 biolink:AnatomicalEntity manual digit metacarpus cartilage element EMAPA:32849 hp.json finger metacarpus cartilage element|hand digit metacarpus cartilage element|metacarpus cartilage element|fore limb digit metacarpus cartilage element|metacarpal cartilage condensation|metacarpal cartilage element http://purl.obolibrary.org/obo/UBERON_0010699 CHEBI:39418 biolink:ChemicalSubstance straight-chain saturated fatty acid Any saturated fatty acid lacking a side-chain. PMID:15644336 hp.json straight-chain saturated fatty acid|straight-chain saturated fatty acids http://purl.obolibrary.org/obo/CHEBI_39418 3_STAR CHEBI:39417 biolink:ChemicalSubstance branched-chain saturated fatty acid Any saturated fatty acid with a carbon side-chain or isopropyl termination. hp.json branched-chain saturated fatty acids|branched saturated fatty acids|branched-chain saturated fatty acid|branched saturated fatty acid http://purl.obolibrary.org/obo/CHEBI_39417 3_STAR CHEBI:15440 biolink:ChemicalSubstance squalene hp.json http://purl.obolibrary.org/obo/CHEBI_15440 HP:0000609 biolink:PhenotypicFeature Optic nerve hypoplasia Underdevelopment of the optic nerve. UMLS:C0338502|SNOMEDCT_US:95499004 hp.json Hypoplastic optic nerves|Underdeveloped optic nerves http://purl.obolibrary.org/obo/HP_0000609 HP:0000602 biolink:PhenotypicFeature Ophthalmoplegia Paralysis of one or more extraocular muscles that are responsible for eye movements. UMLS:C0029089|SNOMEDCT_US:16110005|MSH:D009886 hp.json Paralysis of extraocular eye movement|Eye muscle paralysis http://purl.obolibrary.org/obo/HP_0000602 UBERON:0010693 biolink:AnatomicalEntity pedal digit 1 epithelium An epithelium that is part of a pedal digit 1. EMAPA:17461|EHDAA2:0002038 hp.json foot digit 1 epithelium|pedal digit I epithelium|hind limb digit 1 epithelium http://purl.obolibrary.org/obo/UBERON_0010693 HP:0000601 biolink:PhenotypicFeature Hypotelorism Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). SNOMEDCT_US:44593008|UMLS:C0424711 hp.json Decreased interpupillary distance|Decreased orbital separation|Decreased distance between eyes|Decreased distance between eye sockets|Closely spaced eyes|Abnormally close eyes|Ocular hypotelorism http://purl.obolibrary.org/obo/HP_0000601 hposlim_core UBERON:0010690 biolink:AnatomicalEntity manual digit 1 epithelium An epithelium that is part of a manual digit 1. EHDAA2:0000512|EMAPA:17430 hp.json manual digit I epithelium|hand digit 1 epithelium|fore limb digit 1 epithelium http://purl.obolibrary.org/obo/UBERON_0010690 HP:0000603 biolink:PhenotypicFeature Central scotoma An area of depressed vision located at the point of fixation and that interferes with central vision. UMLS:C0152191|SNOMEDCT_US:38950008|UMLS:C4280624|MSH:D012607 hp.json Central blind spot|Central scotomata|Blind spot located at fixation point http://purl.obolibrary.org/obo/HP_0000603 hposlim_core HP:0000606 biolink:PhenotypicFeature Abnormality of the periorbital region An abnormality of the region situated around the orbit of the eye. UMLS:C4025837 hp.json Abnormality of the region around the eye|Anomaly of the periorbital region|Abnormality of the region around the eye socket|Malformation of the periorbital region|Deformity of the periorbital region http://purl.obolibrary.org/obo/HP_0000606 UBERON:0010696 biolink:AnatomicalEntity skeleton of pedal acropodium The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the pedal autopodium - i.e. the bones of the foot or their cartilaginous precursors[cjm]. VSAO:0005030|FMA:78512 hp.json set of phalanges of pes|pedal phalanges|hind acropodium skeleton|phalanges of foot|set of pedal phalanges|foot digit skeleton|posterior acropodium|posterior acropodium skeleton|all phalanges in hindlimb autopod|phalanges of pes|set of phalanges of foot http://purl.obolibrary.org/obo/UBERON_0010696 HP:0000605 biolink:PhenotypicFeature Supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. UMLS:C1720037|SNOMEDCT_US:420675003 hp.json Supranuclear gaze paralysis http://purl.obolibrary.org/obo/HP_0000605 UBERON:0010697 biolink:AnatomicalEntity pedal digit metatarsal cartilage element EMAPA:32951 hp.json foot digit metatarsal cartilage condensation|hind limb digit metatarsal cartilage condensation|metatarsal cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010697 HP:0000608 biolink:PhenotypicFeature Macular degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. UMLS:C0024437|SNOMEDCT_US:422338006 hp.json Pigmented macular degeneration http://purl.obolibrary.org/obo/HP_0000608 HP:0000607 biolink:PhenotypicFeature Periorbital wrinkles UMLS:C1844605 hp.json Wrinkles around the eyes|Periorbital rhytids|Periorbital wrinkling|Excess periorbital skin wrinkling http://purl.obolibrary.org/obo/HP_0000607 UBERON:0010695 biolink:AnatomicalEntity mesenchyme of tarsal region Mesenchyme of the carpal region that contributes to the tarsal skeleton. EMAPA:18502 hp.json http://purl.obolibrary.org/obo/UBERON_0010695 UBERON:0010687 biolink:AnatomicalEntity pedal digit metatarsal pre-cartilage condensation VHOG:0000948|EMAPA:32956|EMAPA:35568 hp.json metatarsus pre-cartilage condensation|metatarsal pre-cartilage condensation|hind limb digit metatarsal pre-cartilage condensation|foot digit metatarsal pre-cartilage condensation|metatarsal bone pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010687 GO:1904253 biolink:NamedThing positive regulation of bile acid metabolic process hp.json http://purl.obolibrary.org/obo/GO_1904253 UBERON:0010688 biolink:AnatomicalEntity skeleton of manual acropodium The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the manual autopodium - i.e. the bones of the hands or their cartilaginous precursors[VSAO,modified]. FMA:71337|VSAO:0005029 hp.json fore acropodium skeleton|manual digit skeleton|anterior acropodium skeleton|phalanges of manus|set of phalanges of hand|set of manual phalanges|all phalanges in forelimb autopod|set of phalanges of manus|phalanges of hand|anterior acropodium|hand digit skeleton|manual phalanges http://purl.obolibrary.org/obo/UBERON_0010688 GO:1904252 biolink:NamedThing negative regulation of bile acid metabolic process hp.json http://purl.obolibrary.org/obo/GO_1904252 GO:1904251 biolink:NamedThing regulation of bile acid metabolic process hp.json http://purl.obolibrary.org/obo/GO_1904251 HP:0000600 biolink:PhenotypicFeature Abnormality of the pharynx An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. UMLS:C4025838 hp.json http://purl.obolibrary.org/obo/HP_0000600 UBERON:0010681 biolink:AnatomicalEntity pedal digit 2 phalanx cartilage element A cartilage element that is part of a pedal digit 2 mesenchyme. EMAPA:18112 hp.json foot digit 2 phalanx cartilage element|pedal digit II phalanx cartilage element|hind limb digit 2 phalanx cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010681 UBERON:0010682 biolink:AnatomicalEntity pedal digit 3 phalanx cartilage element A cartilage element that is part of a pedal digit 3 mesenchyme. EMAPA:18117 hp.json foot digit 3 phalanx cartilage element|hind limb digit 3 phalanx cartilage condensation|pedal digit III phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0010682 UBERON:0010680 biolink:AnatomicalEntity pedal digit 1 phalanx cartilage element A cartilage element that is part of a pedal digit 1 mesenchyme. EMAPA:18107 hp.json foot digit 1 phalanx cartilage element|hind limb digit 1 phalanx cartilage condensation|pedal digit I phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0010680 UBERON:0010685 biolink:AnatomicalEntity pedal digit phalanx cartilage element A cartilage element that is part of a pedal digit mesenchyme. EMAPA:32948 hp.json foot digit phalanx cartilage element|hind limb digit phalanx cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010685 UBERON:0010686 biolink:AnatomicalEntity manual digit phalanx cartilage element A cartilage element that is part of a manual digit mesenchyme. EMAPA:32658 hp.json hand digit phalanx cartilage condensation|fore limb digit phalanx cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010686 UBERON:0010683 biolink:AnatomicalEntity pedal digit 4 phalanx cartilage element A cartilage element that is part of a pedal digit 4 mesenchyme. EMAPA:18122 hp.json foot digit 4 phalanx cartilage element|pedal digit IV phalanx cartilage element|hind limb digit 4 phalanx cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010683 UBERON:0010684 biolink:AnatomicalEntity pedal digit 5 phalanx cartilage element A cartilage element that is part of a pedal digit 5 mesenchyme. EMAPA:18127 hp.json hind limb digit 5 phalanx cartilage condensation|pedal digit V phalanx cartilage element|foot digit 5 phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0010684 GO:1904266 biolink:BiologicalProcess regulation of Schwann cell chemotaxis Any process that modulates the frequency, rate or extent of Schwann cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_1904266 UBERON:0007037 biolink:AnatomicalEntity mechanosensory system BILA:0000142 hp.json http://purl.obolibrary.org/obo/UBERON_0007037 UBERON:0010678 biolink:AnatomicalEntity manual digit 4 phalanx cartilage element A cartilage element that is part of a manual digit 4 mesenchyme. EMAPA:18081 hp.json hand digit 4 phalanx cartilage element|manual digit IV phalanx cartilage element|fore limb digit 4 phalanx cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010678 UBERON:0010679 biolink:AnatomicalEntity manual digit 5 phalanx cartilage element A cartilage element that is part of a manual digit 5 mesenchyme. EMAPA:18086 hp.json fore limb digit 5 phalanx cartilage condensation|hand digit 5 phalanx cartilage element|manual digit V phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0010679 UBERON:0010676 biolink:AnatomicalEntity manual digit 2 phalanx cartilage element A cartilage element that is part of a manual digit 2 mesenchyme. EMAPA:18071 hp.json hand digit 2 phalanx cartilage element|manual digit II phalanx cartilage element|fore limb digit 2 phalanx cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010676 UBERON:0010677 biolink:AnatomicalEntity manual digit 3 phalanx cartilage element A cartilage element that is part of a manual digit 3 mesenchyme. EMAPA:18076 hp.json hand digit 3 phalanx cartilage element|manual digit III phalanx cartilage element|fore limb digit 3 phalanx cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010677 UBERON:0009692 biolink:AnatomicalEntity lumen of pharyngotympanic tube An organ cavity that is part of a pharyngotympanic tube. EHDAA2:0004118|FMA:60079 hp.json lumen of auditory tube|auditory tube lumen|lumen of eustachian tube|pharyngotympanic tube lumen http://purl.obolibrary.org/obo/UBERON_0009692 UBERON:0009695 biolink:AnatomicalEntity epithelium of laryngopharynx An epithelium that is part of a hypopharynx. FMA:62454|EHDAA2:0004575 hp.json laryngopharynx epithelium|epithelium of laryngeal pharynx http://purl.obolibrary.org/obo/UBERON_0009695 UBERON:0009680 biolink:AnatomicalEntity set of upper jaw teeth A tooth row that is part of a skeleton of upper jaw. EHDAA2:0002129|FMA:55634 hp.json arcus dentalis superior|upper jaw teeth|set of all upper teeth|upper dental arcade|maxillary dental arcade http://purl.obolibrary.org/obo/UBERON_0009680 pheno_slim GO:1904269 biolink:CellularComponent cell leading edge cell cortex The cell cortex of the leading edge of a cell. hp.json peripheral cytoplasm of leading edge of cell|cell periphery of leading edge of cell|peripheral cytoplasm of cell leading edge|cell cortex of cell leading edge|cell periphery of cell leading edge|peripheral cytoplasm of front of cell|cell periphery of front of cell|cell cortex of front of cell|cell cortex of leading edge of cell http://purl.obolibrary.org/obo/GO_1904269 UBERON:0010675 biolink:AnatomicalEntity manual digit 1 phalanx cartilage element A cartilage element that is part of a manual digit 1 mesenchyme. EMAPA:18066 hp.json hand digit 1 phalanx cartilage element|manual digit I phalanx cartilage element|fore limb digit 1 phalanx cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010675 GO:1904268 biolink:BiologicalProcess positive regulation of Schwann cell chemotaxis Any process that activates or increases the frequency, rate or extent of Schwann cell chemotaxis. hp.json up-regulation of Schwann cell chemotaxis|up regulation of Schwann cell chemotaxis|activation of Schwann cell chemotaxis|upregulation of Schwann cell chemotaxis http://purl.obolibrary.org/obo/GO_1904268 GO:1904267 biolink:BiologicalProcess negative regulation of Schwann cell chemotaxis Any process that stops, prevents or reduces the frequency, rate or extent of Schwann cell chemotaxis. hp.json inhibition of Schwann cell chemotaxis|downregulation of Schwann cell chemotaxis|down-regulation of Schwann cell chemotaxis|down regulation of Schwann cell chemotaxis http://purl.obolibrary.org/obo/GO_1904267 UBERON:0007026 biolink:AnatomicalEntity presumptive gut SCTID:360394002|UMLS:C1514442|BILA:0000084|NCIT:C34268 hp.json primordial digestive tube|embryonic digestive tube|future digestive tube|primitive gut|future digestive tract|primordial gut|future gut http://purl.obolibrary.org/obo/UBERON_0007026 UBERON:0007023 biolink:AnatomicalEntity adult organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. BILA:0000078|FBbt:00003004|HAO:0000087|galen:Adult|TAO:0002046|NCIT:C17600|http://neurolex.org/wiki/Category:Adult_organism|UMLS:C0001675 hp.json adults|adult http://purl.obolibrary.org/obo/UBERON_0007023 UBERON:0007021 biolink:AnatomicalEntity sexually immature organism A multicellular organism that is at the juvenile stage. http://neurolex.org/wiki/Category:Juvenile_organism|BILA:0000076|TAO:0002047 hp.json juvenile organism|juvenile|juveniles http://purl.obolibrary.org/obo/UBERON_0007021 NCBITaxon:5782 biolink:OrganismalEntity Dictyostelium GC_ID:1|PMID:29367151 hp.json Hyalostilbum http://purl.obolibrary.org/obo/NCBITaxon_5782 GO:0003433 biolink:BiologicalProcess chondrocyte development involved in endochondral bone morphogenesis The progression of a chondrocyte over time from after its commitment to its mature state where the chondrocyte will contribute to the shaping of an endochondral bone. hp.json http://purl.obolibrary.org/obo/GO_0003433 UBERON:0009708 biolink:AnatomicalEntity dorsal pancreas EHDAA2:0001371 hp.json pancreatis dorsalis http://purl.obolibrary.org/obo/UBERON_0009708 human_reference_atlas|organ_slim UBERON:0009709 biolink:AnatomicalEntity ventral pancreas EHDAA2:0001393 hp.json pancreatis ventralis http://purl.obolibrary.org/obo/UBERON_0009709 human_reference_atlas|organ_slim UBERON:0009712 biolink:AnatomicalEntity endocardium of right ventricle Any endocardium that is part of the right ventricle of the heart. VHOG:0001235|FMA:9536|EMAPA:17341|NCIT:C102343|EHDAA2:0002188|SCTID:8911002 hp.json endocardial lining of right ventricle|right ventricle endocardial tissue|right ventricular endocardium|right ventricle endocardium http://purl.obolibrary.org/obo/UBERON_0009712 PR:000002112 biolink:Protein vascular endothelial growth factor receptor 2 A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. IUPHARobj:1813 hp.json KDR|protein-tyrosine kinase receptor flk-1|CD309|VEGFR-2|FLK-1|VEGFR2|kinase NYK|FLK1|kinase insert domain receptor|fetal liver kinase 1 http://purl.obolibrary.org/obo/PR_000002112 UBERON:0009713 biolink:AnatomicalEntity endocardium of left ventricle Any endocardium that is part of the left ventricle of the heart. EMAPA:17338|VHOG:0001233|FMA:9559|EHDAA2:0002182|SCTID:191004004 hp.json left ventricle endocardium|left ventricular endocardium|endocardial lining of left ventricle|left ventricle endocardial tissue http://purl.obolibrary.org/obo/UBERON_0009713 UBERON:0009714 biolink:AnatomicalEntity intermaxillary process The primordial mass of tissue formed by the merging of the medial nasal prominences of the embryo; it contributes to the intermaxillary portion of the upper jaw, the prolabial portion of the upper lip, and the primary palate. FMA:295872|EHDAA2:0000868|EHDAA:7856 hp.json intermaxillary segment|globular process|globular processes of his http://purl.obolibrary.org/obo/UBERON_0009714 UBERON:0009715 biolink:AnatomicalEntity stomodeal lumen An anatomical cavity that surrounded_by a stomodeum. hp.json lumen of stomodeum|stomatodeal cavity|lumen of stomatodaeum http://purl.obolibrary.org/obo/UBERON_0009715 NCBITaxon:1963758 biolink:OrganismalEntity Myomorpha GC_ID:1 hp.json Sciurognathi|mice and others http://purl.obolibrary.org/obo/NCBITaxon_1963758 CHEBI:52395 biolink:ChemicalSubstance oxyketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. hp.json oxyketones http://purl.obolibrary.org/obo/CHEBI_52395 3_STAR CHEBI:52396 biolink:ChemicalSubstance alpha-oxyketone An oxyketone with the general formula R2C(=O) (R=/=H) where one or more of the R groups contains an oxy (-O-) group and the oxy and carbonyl groups are bonded to the same carbon atom. hp.json alpha-oxyketones http://purl.obolibrary.org/obo/CHEBI_52396 3_STAR CHEBI:64390 biolink:ChemicalSubstance N-hexanoylglycine An N-acylglycine in which the acyl group is specified as hexanoyl. Patent:EP572167|Patent:EP517371|PMID:22770225|Patent:EP226304|HMDB:HMDB0000701|PMID:17190852|Patent:US5238917|Patent:EP580409|Reaxys:1773416|Patent:US4757066|Patent:EP415598|CAS:24003-67-6|Patent:US5112863|Patent:US5559092 hp.json Hexanoylglycine|N-hexanoylglycine|N-(1-oxohexyl)glycine|Caproylglycine|N-caproylglycine|n-Hexanoylglycine http://purl.obolibrary.org/obo/CHEBI_64390 3_STAR PR:Q9WTK5 biolink:Protein nuclear factor NF-kappa-B p100 subunit (mouse) A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of mouse. UniProtKB:Q9WTK5 hp.json nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (mouse)|mNFKB2|DNA-binding factor KBF2 (mouse)|Nfkb2 http://purl.obolibrary.org/obo/PR_Q9WTK5 GO:0003414 biolink:BiologicalProcess chondrocyte morphogenesis involved in endochondral bone morphogenesis The process in which the structures of a chondrocyte that will contribute to bone development are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0003414 GO:0003413 biolink:BiologicalProcess chondrocyte differentiation involved in endochondral bone morphogenesis The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte that will contribute to the development of a bone. A chondrocyte is a polymorphic cell that forms cartilage. hp.json http://purl.obolibrary.org/obo/GO_0003413 GO:0003416 biolink:BiologicalProcess endochondral bone growth The increase in size or mass of an endochondral bone that contributes to the shaping of the bone. hp.json http://purl.obolibrary.org/obo/GO_0003416 GO:0003411 biolink:BiologicalProcess cell motility involved in camera-type eye morphogenesis Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another and contributes to the physical shaping or formation of the camera-type eye. hp.json http://purl.obolibrary.org/obo/GO_0003411 CL:0000586 biolink:Cell germ cell The reproductive cell in multicellular organisms. BTO:0000535|VHOG:0001534|WBbt:0006796 hp.json http://purl.obolibrary.org/obo/CL_0000586 CHEBI:146500 biolink:ChemicalSubstance D-Galp-(1->3)-D-GalpNAc An amino disaccharide that is 2-acetamido-2-deoxy-D-galactopyranose in which the hydroxy group at position 3 has been converted to the corresponding D-galactopyranoside. The stereochemistry at the anomeric position in each of the galactopyranose rings is not stated. GlyTouCan:G01416HI|GlyGen:G01416HI|KEGG:G10100 hp.json Gal(?1-3)GalNAc|N-[(3R,4R,5R,6R)-2,5-dihydroxy-6-(hydroxymethyl)-4-[(3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxyoxan-3-yl]acetamide|D-galacto-hexopyranosyl-(1->3)-2-acetamido-2-deoxy-D-galacto-hexopyranose|WURCS=2.0/2,2,1/[a2112h-1x_1-5_2*NCC/3=O][a2112h-1x_1-5]/1-2/a3-b1|2-acetamido-2-deoxy-3-O-D-galactopyranosyl-D-galactopyranose http://purl.obolibrary.org/obo/CHEBI_146500 3_STAR CL:0000593 biolink:Cell androgen secreting cell A steroid hormone secreting cell that secretes androgen. hp.json http://purl.obolibrary.org/obo/CL_0000593 CL:0000595 biolink:Cell enucleate erythrocyte An erythrocyte lacking a nucleus. hp.json red blood cell|RBC http://purl.obolibrary.org/obo/CL_0000595 CL:0000568 biolink:Cell amine precursor uptake and decarboxylation cell A cell that originates in the neural crest, that has certain cytochemical and ultrastructural characteristics and is found scattered throughout the body; types include melanocytes, the cells of the chromaffin system, and cells in the hypothalamus, hypophysis, thyroid, parathyroids, lungs, gastrointestinal tract, and pancreas. This cell type concentrates the amino acid precursors of certain amines and decarboxylate them, forming amines that function as regulators and neurotransmitters. This cell type produces substances such as epinephrine, norepinephrine, dopamine, serotonin, enkephalin, somatostatin, neurotensin, and substance P, the actions of which may affect contiguous cells, nearby groups of cells, or distant cells, thus functioning as local or systemic hormones. The name is an acronym for amine precursor uptake and decarboxylation cell. FMA:83114|BTO:0003866 hp.json APUD cell http://purl.obolibrary.org/obo/CL_0000568 CL:0000569 biolink:Cell cardiac mesenchymal cell A mesenchymal cell found in the developing heart and that develops into some part of the heart. These cells derive from intra- and extra-cardiac sources, including the endocardium, epicardium, neural crest, and second heart field. hp.json http://purl.obolibrary.org/obo/CL_0000569 UBERON:0010740 biolink:AnatomicalEntity bone of appendage girdle complex A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). MA:0000688|EMAPA:35494 hp.json bone of extended limb/fin region|limb bone|bone of extended limb/fin region http://purl.obolibrary.org/obo/UBERON_0010740 pheno_slim UBERON:0010741 biolink:AnatomicalEntity bone of pectoral complex A bone that is part of a pectoral complex. Examples: scapula, manus phalanx, any carpal bone, any bone of the pectoral fin. EMAPA:35933|MA:0000612|EMAPA:32623 hp.json forelimb bone|wing bone|bone of forelimb or pectoral fin or pectoral girdle http://purl.obolibrary.org/obo/UBERON_0010741 pheno_slim CL:0000561 biolink:Cell amacrine cell Interneuron of the vertebrate retina. They integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer. They lack large axons. BTO:0004044|FMA:67766 hp.json amacrine neuron http://purl.obolibrary.org/obo/CL_0000561 CL:0000562 biolink:Cell nucleate erythrocyte An erythrocyte having a nucleus. hp.json red blood cell|RBC http://purl.obolibrary.org/obo/CL_0000562 UBERON:0009758 biolink:AnatomicalEntity abdominal ganglion A ganglion that is part of a abdominal segment of trunk. SCTID:280508003 hp.json http://purl.obolibrary.org/obo/UBERON_0009758 UBERON:0010737 biolink:AnatomicalEntity distal tarsal bone 4 Endochondral tarsal bone articulating with centralia and metatarsal 4. VSAO:0005055|AAO:0000932 hp.json tarsal 4|distal tarsal 4|os cuboideum|cuboideum|os tarsale IV http://purl.obolibrary.org/obo/UBERON_0010737 UBERON:0010738 biolink:AnatomicalEntity distal tarsal bone 5 Endochondral tarsal bone articulating with centralia and metatarsal 5. AAO:0000933|VSAO:0005056 hp.json cuboideum|tarsal 5|distal tarsal 5 http://purl.obolibrary.org/obo/UBERON_0010738 CL:0000566 biolink:Cell angioblastic mesenchymal cell A mesenchymal stem cell capable of developing into blood vessel endothelium. hp.json chondroplast|angioblast http://purl.obolibrary.org/obo/CL_0000566 UBERON:0009751 biolink:AnatomicalEntity cardiac mesenchyme The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures. EMAPA:36438|EHDAA2:0004162 hp.json heart mesenchyme http://purl.obolibrary.org/obo/UBERON_0009751 pheno_slim UBERON:0009752 biolink:AnatomicalEntity pancreas mesenchyme The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas. EMAPA:26220|EFO:0002557 hp.json http://purl.obolibrary.org/obo/UBERON_0009752 pheno_slim|efo_slim|human_reference_atlas GO:0003403 biolink:BiologicalProcess optic vesicle formation The developmental process pertaining to the initial formation of the optic vesicle from the lateral wall of the forebrain. This process begins with the specific processes that contribute to the appearance of the vesicle and ends when the vesicle has evaginated. The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup. hp.json http://purl.obolibrary.org/obo/GO_0003403 GO:0003404 biolink:BiologicalProcess optic vesicle morphogenesis The developmental process pertaining to the formation and shaping of the optic vesicle. This process begins with the specific processes that contribute to the appearance of the vesicle and ends when the vesicle has evaginated. The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup. hp.json http://purl.obolibrary.org/obo/GO_0003404 CL:0000570 biolink:Cell parafollicular cell A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine. FMA:68653 hp.json C cell|parafollicular cell of thyroid gland|C cell of thyroid gland|thyroid parafollicular cell|clear cell of thyroid gland http://purl.obolibrary.org/obo/CL_0000570 UBERON:0009744 biolink:AnatomicalEntity lymph node medullary sinus The channels in the lymph node medulla that separate the medullary cords and are crossed by a reticulum of cells and fibers and bounded by littoral cells; lymph flows through the medullary sinus from the cortical sinuses and into the efferent lymphatic vessels. EMAPA:37898|FMA:312359 hp.json medullary sinus|lymph node medullary sinusoid http://purl.obolibrary.org/obo/UBERON_0009744 pheno_slim|human_reference_atlas UBERON:0009745 biolink:AnatomicalEntity lymph node medullary cord The dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node. EMAPA:37897 hp.json medullary cord http://purl.obolibrary.org/obo/UBERON_0009745 pheno_slim|human_reference_atlas UBERON:0010720 biolink:AnatomicalEntity hindlimb zeugopod skeleton Subdivision of skeleton consisting of all skeletal elements in an hindlimb zeugopod region. Typically consists of the tibia and the fibula. VSAO:0005014|AAO:0000216 hp.json skeleton cruris|crural skeleton|posterior zeugopodium|hindlimb zygopod skeleton|crus skeleton|hind epipodium|posterior zeugopodium skeleton|hindlimb epipodium|mesomere 2 of pelvic appendage http://purl.obolibrary.org/obo/UBERON_0010720 UBERON:0010721 biolink:AnatomicalEntity distal tarsal bone There are three cuneiform bones in the human foot: the medial cuneiform the intermediate cuneiform also known as the middle the lateral cuneiform. They are located between the navicular bone and the first, second and third metatarsal bones and are medial to the cuboid bone[WP, unvetted, human specific]. FMA:24517|AAO:0000914|NCIT:C32416|UMLS:C1511560 hp.json distal tarsal bone|distal tarsal|cuneiform bone|os cuneiform|cuneiform|os cuneiforme http://purl.obolibrary.org/obo/UBERON_0010721 CL:0000573 biolink:Cell retinal cone cell One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision. FMA:67748|CALOHA:TS-0866|BTO:0001036 hp.json http://purl.obolibrary.org/obo/CL_0000573 CL:0000575 biolink:Cell corneal epithelial cell An epithelial cell of the cornea. BTO:0004298|CALOHA:TS-0173|FMA:70551 hp.json epithelial cell of cornea http://purl.obolibrary.org/obo/CL_0000575 UBERON:0009749 biolink:AnatomicalEntity limb mesenchyme The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. EMAPA:32705 hp.json limb mesoderm http://purl.obolibrary.org/obo/UBERON_0009749 pheno_slim CL:0000576 biolink:Cell monocyte Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. BTO:0000876|FMA:62864|CALOHA:TS-0638 hp.json http://purl.obolibrary.org/obo/CL_0000576 UBERON:0010728 biolink:AnatomicalEntity sphenoid lesser wing pre-cartilage condensation An orbitosphenoid endochondral element that is composed primarily of a pre-cartilage condensation. EHDAA2:0003449 hp.json http://purl.obolibrary.org/obo/UBERON_0010728 GO:0003407 biolink:BiologicalProcess neural retina development The progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. hp.json http://purl.obolibrary.org/obo/GO_0003407 CL:0000547 biolink:Cell proerythroblast An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. FMA:83518 hp.json rubriblast|pronormoblast http://purl.obolibrary.org/obo/CL_0000547 CL:0000548 biolink:Cell animal cell hp.json http://purl.obolibrary.org/obo/CL_0000548 _upper_level CL:0000549 biolink:Cell basophilic erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. FMA:83505 hp.json early erythroblast|basophilic normoblast|early normoblast|prorubricyte http://purl.obolibrary.org/obo/CL_0000549 UBERON:0010712 biolink:AnatomicalEntity limb skeleton subdivision Skeletal subdivision that is a segment of the limb skeleton. VSAO:0005018 hp.json http://purl.obolibrary.org/obo/UBERON_0010712 CL:0000540 biolink:Cell neuron The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. BTO:0000938|CALOHA:TS-0683|FBbt:00005106|VHOG:0001483|FMA:54527|WBbt:0003679 hp.json nerve cell http://purl.obolibrary.org/obo/CL_0000540 CL:0000541 biolink:Cell melanoblast A cell that originates from the neural crest and differentiates into a pigment cell. BTO:0003217|FMA:83377 hp.json http://purl.obolibrary.org/obo/CL_0000541 CL:0000542 biolink:Cell lymphocyte A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. CALOHA:TS-0583|FMA:62863|BTO:0000775|VHOG:0001535 hp.json http://purl.obolibrary.org/obo/CL_0000542 UBERON:0010714 biolink:AnatomicalEntity iliac cartilage element An iliac endochondral element that is composed primarily of cartilage tissue. EHDAA2:0000808|VHOG:0001126|EMAPA:18347 hp.json iliac cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010714 UBERON:0010719 biolink:AnatomicalEntity girdle skeleton The subdivision of the skeleton of either the pectoral or pelvic girdle. AAO:0010686|VSAO:0000302 hp.json skeleton of girdle http://purl.obolibrary.org/obo/UBERON_0010719 UBERON:0010718 biolink:AnatomicalEntity pubic cartilage element A pubic endochondral element that is composed primarily of cartilage tissue. EMAPA:26928|EHDAA2:0001573 hp.json pubic cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010718 NCBITaxon:3193 biolink:OrganismalEntity Embryophyta GC_ID:1 hp.json land plants|land plants|higher plants|plants http://purl.obolibrary.org/obo/NCBITaxon_3193 GO:1990188 biolink:MolecularActivity euchromatin binding Binding to euchromatin, a dispersed and relatively uncompacted form of chromatin. hp.json http://purl.obolibrary.org/obo/GO_1990188 CL:0000556 biolink:Cell megakaryocyte A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm. CALOHA:TS-0611|FMA:83555|BTO:0000843 hp.json megalokaryocyte|megacaryocyte|megalocaryocyte http://purl.obolibrary.org/obo/CL_0000556 GO:1990182 biolink:BiologicalProcess exosomal secretion The process whereby a membrane-bounded vesicle is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. hp.json extracellular vesicular exosome secretion|multi-vesicular body fusion with plasma membrane|exosomal secretory pathway|exosomal protein secretion|secretion of exosome http://purl.obolibrary.org/obo/GO_1990182 CL:0000557 biolink:Cell granulocyte monocyte progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. hp.json CFU-GM|granulocyte-macrophage progenitor|granulocyte/monocyte progenitor|GMP|granulocyte/monocyte precursor|colony forming unit granulocyte macrophage|CFU-C , Colony forming unit in culture http://purl.obolibrary.org/obo/CL_0000557 CL:0000558 biolink:Cell reticulocyte An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. CALOHA:TS-0864|BTO:0001173 hp.json http://purl.obolibrary.org/obo/CL_0000558 CHEBI:27389 biolink:ChemicalSubstance 3-aminoisobutyric acid A beta-amino-acid that is isobutyric acid in which one of the methyl hydrogens is substituted by an amino group. Beilstein:1745458|PMID:22735334|PMID:639325|PMID:8307374|PMID:18600547|CAS:10569-72-9|PMID:19186330|MetaCyc:3-AMINO-ISOBUTYRATE|PMID:14576092|LIPID_MAPS_instance:LMFA01100054|PMID:2274753|Beilstein:1720958|Reaxys:1720958|CAS:10569-72-9|Gmelin:1520758|PMID:19735301|PMID:5776546|HMDB:HMDB0003911|Wikipedia:3-Aminoisobutyric_acid|PMID:18299183|CAS:144-90-1|CAS:144-90-1|KEGG:C05145|PMID:11785300 hp.json 3-aminoisobutyric acid|2-Methyl-beta-alanine|DL-beta-aminoisobutyric acid|alpha-Methyl-beta-alanine|beta-aminoisobutyric acid|3-Amino-2-methylpropanoate|2-(aminomethyl)propionic acid|3-amino-2-methylpropanoic acid|BAIB|bAib|3-Aminoisobutanoate|3-Aminoisobutanoic acid http://purl.obolibrary.org/obo/CHEBI_27389 3_STAR CL:0000559 biolink:Cell promonocyte A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. FMA:83551|BTO:0004657 hp.json http://purl.obolibrary.org/obo/CL_0000559 UBERON:0009722 biolink:AnatomicalEntity entire pharyngeal arch endoderm EHDAA2:0004621|EMAPA:32754|FMA:293087 hp.json pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0009722 UBERON:0010700 biolink:AnatomicalEntity phalanx pre-cartilage condensation EMAPA:32720 hp.json http://purl.obolibrary.org/obo/UBERON_0010700 UBERON:0010701 biolink:AnatomicalEntity phalanx cartilage element EMAPA:32721 hp.json phalanx cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010701 CL:0000550 biolink:Cell polychromatophilic erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. FMA:83506 hp.json polychromatophilic normoblast|intermediate erythroblast|polychromatic erythroblast|rubricyte|intermediate normoblast|polychromatic normoblast http://purl.obolibrary.org/obo/CL_0000550 CL:0000552 biolink:Cell orthochromatic erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. FMA:84646 hp.json eosinophilic erythroblast|orthochromatic normoblast|acidophilic erythroblast|late erythoblast|pyknotic eto enrythroblast http://purl.obolibrary.org/obo/CL_0000552 CL:0000553 biolink:Cell megakaryocyte progenitor cell The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). CALOHA:TS-0610|BTO:0001164|FMA:84235 hp.json promegakaryocyte|CFU-Meg|megakaryocytic progenitor cell|colony-forming unit-megakaryocyte|MkP|megacaryocyte progenitor cell|megacaryoblast|promegacaryocyte|Meg-CFC|megakaryoblast http://purl.obolibrary.org/obo/CL_0000553 UBERON:0010702 biolink:AnatomicalEntity digit mesenchyme Mesenchyme of the digit region. NCIT:C34141|EMAPA:32719 hp.json digital ray http://purl.obolibrary.org/obo/UBERON_0010702 UBERON:0010703 biolink:AnatomicalEntity forelimb zeugopod skeleton The collection of all skeletal elements in an forelimb zeugopod region. VSAO:0005011|AAO:0000200|FMA:71199 hp.json antebrachial skeleton|forelimb epipodium skeleton|forelimb epipodium|anterior zeugopodium|wing zeugopod skeleton|fore epipodium|radius and ulna|antebrachium skeleton|mesomere 2 of pectoral appendage|skeleton of forearm|forearm skeleton|fore epipodium skeleton|anterior zeugopodium skeleton http://purl.obolibrary.org/obo/UBERON_0010703 CL:0000555 biolink:Cell neuronal brush cell hp.json http://purl.obolibrary.org/obo/CL_0000555 UBERON:0010708 biolink:AnatomicalEntity pectoral complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. EMAPA:37860|VSAO:0000213|FMA:7183 hp.json upper limb and pectoral girdle|upper limb|pectoral appendage/girdle complex|upper limb and shoulder|pectoral girdle plus anterior limb or fin|pectoral girdle plus pectoral limb or fin http://purl.obolibrary.org/obo/UBERON_0010708 pheno_slim UBERON:0010709 biolink:AnatomicalEntity pelvic complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. SCTID:416631005|VSAO:0000215|EMAPA:37863|FMA:7184 hp.json pelvic girdle plus posterior limb or fin|pelvic girdle plus pelvic limb or fin|lower limb and pelvic girdle|lower limb and pelvis|lower limb and pelvic girdle|pelvic girdle plus posterior limb or fin|pelvic appendage/girdle complex|pelvic girdle plus pelvic limb or fin|lower limb|lower limb and pelvis http://purl.obolibrary.org/obo/UBERON_0010709 pheno_slim UBERON:0010707 biolink:AnatomicalEntity appendage girdle complex An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). EMAPA:37858|VSAO:0000214|FMA:7182 hp.json appendage/girdle complex|limb|girdle plus limb or fin|appendage complex|appendage-girdle complex|girdle plus limb or fin|appendage complex|appendage-girdle complex http://purl.obolibrary.org/obo/UBERON_0010707 pheno_slim HP:0012583 biolink:PhenotypicFeature Unilateral renal hypoplasia One sided hypoplasia of the kidney. SNOMEDCT_US:204948009|UMLS:C0431691 hp.json Small kidney on one side|Underdeveloped kidney on one side http://purl.obolibrary.org/obo/HP_0012583 HP:0012584 biolink:PhenotypicFeature Bilateral renal hypoplasia Two sided hypoplasia of the kidney. SNOMEDCT_US:268232000|UMLS:C0431692 hp.json http://purl.obolibrary.org/obo/HP_0012584 HP:0012585 biolink:PhenotypicFeature Renal atrophy Atrophy of the kidney. UMLS:C0341698|SNOMEDCT_US:197659005 hp.json Kidney degeneration http://purl.obolibrary.org/obo/HP_0012585 HP:0012586 biolink:PhenotypicFeature Bilateral renal atrophy A two-sided form of atrophy of the kidney. UMLS:C4022835 hp.json Bilateral kidney degeneration http://purl.obolibrary.org/obo/HP_0012586 HP:0012587 biolink:PhenotypicFeature Macroscopic hematuria Hematuria that is visible upon inspection of the urine. UMLS:C0473237|SNOMEDCT_US:197941005 hp.json Bloody urine|Gross hematuria http://purl.obolibrary.org/obo/HP_0012587 HP:0012588 biolink:PhenotypicFeature Steroid-resistant nephrotic syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. SNOMEDCT_US:236381000|UMLS:C0403397 hp.json SRNS http://purl.obolibrary.org/obo/HP_0012588 HP:0012589 biolink:PhenotypicFeature Multidrug-resistant nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. UMLS:C4022834 hp.json http://purl.obolibrary.org/obo/HP_0012589 HP:0012580 biolink:PhenotypicFeature Calcium phosphate nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. UMLS:C3671880 hp.json Ca phosphate urolithiasis|Ca2+ phosphate nephrolitiasis|Ca phosphate nephrolithiasis|Ca2+ phosphate urolithiasis|Calcium phosphate urolithiasis http://purl.obolibrary.org/obo/HP_0012580 HP:0012581 biolink:PhenotypicFeature Simple renal cyst An isolated cyst of the kidney. UMLS:C0268800|UMLS:C4022836|SNOMEDCT_US:77945009 hp.json single cortical cyst|Simple kidney cyst|Solitary renal cyst http://purl.obolibrary.org/obo/HP_0012581 HP:0012582 biolink:PhenotypicFeature Bilateral renal dysplasia A bilateral form of developmental dysplasia of the kidney. SNOMEDCT_US:204950001|UMLS:C0431698 hp.json http://purl.obolibrary.org/obo/HP_0012582 HP:0000594 biolink:PhenotypicFeature Shallow anterior chamber Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. SNOMEDCT_US:246986004|UMLS:C0423276 hp.json http://purl.obolibrary.org/obo/HP_0000594 HP:0000593 biolink:PhenotypicFeature Abnormal anterior chamber morphology Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. SNOMEDCT_US:204142009|UMLS:C3152182 hp.json Ocular anterior chamber abnormality|Anterior chamber anomalies|Abnormality of the anterior chamber http://purl.obolibrary.org/obo/HP_0000593 hposlim_core HP:0000598 biolink:PhenotypicFeature Abnormality of the ear An abnormality of the ear. UMLS:C0266589|SNOMEDCT_US:275259005 hp.json Abnormality of the ear|Ear anomaly http://purl.obolibrary.org/obo/HP_0000598 hposlim_core HP:0000597 biolink:PhenotypicFeature Ophthalmoparesis Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. UMLS:C0751401|MSH:D009886 hp.json Extraocular muscle paralysis|Weakness of muscles controlling eye movement|Weakness of extraocular eye movement|Extraocular muscle palsy http://purl.obolibrary.org/obo/HP_0000597 HP:0000599 biolink:PhenotypicFeature Abnormality of the frontal hairline An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. UMLS:C4025839 hp.json Abnormality of hairline at front of head|Abnormality of the frontal hairline http://purl.obolibrary.org/obo/HP_0000599 HP:0000590 biolink:PhenotypicFeature Progressive external ophthalmoplegia Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. UMLS:C0162674|SNOMEDCT_US:46252003|MSH:D017246 hp.json External ophthalmoplegia, progressive http://purl.obolibrary.org/obo/HP_0000590 HP:0000592 biolink:PhenotypicFeature Blue sclerae An abnormal bluish coloration of the sclera. SNOMEDCT_US:204164000|UMLS:C0542514 hp.json Blue outer white part of eyeball|Bluish sclerae|Blue sclera|Whites of eyes are a bluish-gray colour|Whites of eyes are a bluish-gray color http://purl.obolibrary.org/obo/HP_0000592 hposlim_core HP:0000591 biolink:PhenotypicFeature Abnormal sclera morphology An abnormality of the sclera. UMLS:C4025840 hp.json Abnormality of the outer white part of eyeball|Abnormality of the sclera http://purl.obolibrary.org/obo/HP_0000591 hposlim_core HP:0012572 biolink:PhenotypicFeature Ureter duplex A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder. SNOMEDCT_US:49496001|UMLS:C0221365|ICD-10:Q62.5 hp.json http://purl.obolibrary.org/obo/HP_0012572 HP:0012573 biolink:PhenotypicFeature Global proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. UMLS:C4022839 hp.json http://purl.obolibrary.org/obo/HP_0012573 HP:0012574 biolink:PhenotypicFeature Mesangial hypercellularity Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. SNOMEDCT_US:125510009|UMLS:C0545017 hp.json Mesangial proliferation http://purl.obolibrary.org/obo/HP_0012574 HP:0012575 biolink:PhenotypicFeature Abnormal nephron morphology A structural anomaly of the nephron. UMLS:C4022838 hp.json Abnormality of the nephron http://purl.obolibrary.org/obo/HP_0012575 HP:0012576 biolink:PhenotypicFeature Glomerular C3 deposition The presence of complement 3 deposits in the glomerulus. UMLS:C4022837 hp.json C3 nephropathy|Renal C3 deposition http://purl.obolibrary.org/obo/HP_0012576 HP:0012577 biolink:PhenotypicFeature Thin glomerular basement membrane Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. UMLS:C3276821 hp.json http://purl.obolibrary.org/obo/HP_0012577 HP:0012578 biolink:PhenotypicFeature Membranous nephropathy A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. SNOMEDCT_US:77182004|MSH:D015433|UMLS:C0017665 hp.json Membranous glomerulonephritis http://purl.obolibrary.org/obo/HP_0012578 HP:0012579 biolink:PhenotypicFeature Minimal change glomerulonephritis The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. UMLS:C0027721|MSH:D009402|SNOMEDCT_US:44785005 hp.json Minimal change nephropathy|Minimal change disease http://purl.obolibrary.org/obo/HP_0012579 HP:0012570 biolink:PhenotypicFeature Synovial sarcoma A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities. SNOMEDCT_US:302851001|MSH:D013584|SNOMEDCT_US:63211008|UMLS:C0039101 hp.json Malignant synovioma http://purl.obolibrary.org/obo/HP_0012570 HP:0012571 biolink:PhenotypicFeature Ureter fissus A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder. UMLS:C4021079|ICD-10:Q62.5 hp.json Partially duplicated ureter http://purl.obolibrary.org/obo/HP_0012571 CHEBI:78954 biolink:ChemicalSubstance (omega-1)-hydroxy fatty acid A hydroxy fatty acid that is a straight-chain fatty acid in which one of the hydrogens attached to the carbon adjacent to the terminal methyl group (i.e. at the (omega-1) position) is replaced by a hydroxy group. hp.json (omega-1)-hydroxy fatty acids http://purl.obolibrary.org/obo/CHEBI_78954 3_STAR HP:0012561 biolink:PhenotypicFeature Unicuspid aortic valve The presence of an aortic valve with one instead of the normal three cusps (flaps). SNOMEDCT_US:253610004|UMLS:C0345001 hp.json http://purl.obolibrary.org/obo/HP_0012561 HP:0012562 biolink:PhenotypicFeature Premature epimetaphyseal fusion in hand Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. UMLS:C4022844 hp.json http://purl.obolibrary.org/obo/HP_0012562 HP:0012563 biolink:PhenotypicFeature Premature epimetaphyseal fusion in foot Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. UMLS:C4022843 hp.json http://purl.obolibrary.org/obo/HP_0012563 HP:0012564 biolink:PhenotypicFeature Premature epimetaphyseal fusion in tibia Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. UMLS:C4022842 hp.json http://purl.obolibrary.org/obo/HP_0012564 HP:0012565 biolink:PhenotypicFeature Premature epimetaphyseal fusion in fibula Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. UMLS:C4021838 hp.json http://purl.obolibrary.org/obo/HP_0012565 HP:0012566 biolink:PhenotypicFeature Premature epimetaphyseal fusion in radius Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. UMLS:C4022841 hp.json http://purl.obolibrary.org/obo/HP_0012566 HP:0012567 biolink:PhenotypicFeature Premature epimetaphyseal fusion in ulna Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. UMLS:C4022840 hp.json http://purl.obolibrary.org/obo/HP_0012567 HP:0012568 biolink:PhenotypicFeature Lower eyelid edema Edema in the region of the Lower eyelid. UMLS:C3839997|UMLS:C2025810|SNOMEDCT_US:700327003 hp.json Swelling of lower eyelid|Lower eyelid oedema|Cellulitis of lower eyelid|Puffiness of lower eyelid|Fullness of lower eyelid http://purl.obolibrary.org/obo/HP_0012568 HP:0000579 biolink:PhenotypicFeature Nasolacrimal duct obstruction Blockage of the lacrimal duct. SNOMEDCT_US:246865000|UMLS:C0022906|UMLS:C1281931|MSH:D007767|SNOMEDCT_US:416920000|SNOMEDCT_US:314022009|SNOMEDCT_US:231841004 hp.json Blocked tear duct|Lacrimal duct obstruction http://purl.obolibrary.org/obo/HP_0000579 hposlim_core HP:0012560 biolink:PhenotypicFeature Decreased T3/T4 ratio A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal. UMLS:C4022845 hp.json http://purl.obolibrary.org/obo/HP_0012560 HP:0000572 biolink:PhenotypicFeature Visual loss Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). SNOMEDCT_US:7973008|UMLS:C3665386 hp.json Vision loss|Loss of vision|Visual loss http://purl.obolibrary.org/obo/HP_0000572 HP:0000571 biolink:PhenotypicFeature Hypometric saccades Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. UMLS:C0423082|SNOMEDCT_US:246768008 hp.json http://purl.obolibrary.org/obo/HP_0000571 HP:0000574 biolink:PhenotypicFeature Thick eyebrow Increased density/number and/or increased diameter of eyebrow hairs. UMLS:C1853487 hp.json Hypertrichosis of the eyebrows|Bushy eyebrows|Thick eyebrows|Hypertrichosis of the eyebrow|Dense eyebrow|Thick eyebrow|Prominent eyebrows|Heavy eyebrows http://purl.obolibrary.org/obo/HP_0000574 hposlim_core HP:0000573 biolink:PhenotypicFeature Retinal hemorrhage Hemorrhage occurring within the retina. UMLS:C0035317|MSH:D012166|SNOMEDCT_US:28998008 hp.json Retinal haemorrhage|Retinal bleeding|Retinal haemorrhages|Retinal hemorrhages http://purl.obolibrary.org/obo/HP_0000573 hposlim_core HP:0000576 biolink:PhenotypicFeature Centrocecal scotoma A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. SNOMEDCT_US:33014001|UMLS:C0271196|MSH:D012607 hp.json http://purl.obolibrary.org/obo/HP_0000576 HP:0000575 biolink:PhenotypicFeature Scotoma A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. SNOMEDCT_US:81016008|MSH:D009898|SNOMEDCT_US:23388006|UMLS:C0036454|MSH:D012607|UMLS:C0344233 hp.json Blind spot http://purl.obolibrary.org/obo/HP_0000575 hposlim_core HP:0000577 biolink:PhenotypicFeature Exotropia A form of strabismus with one or both eyes deviated outward. MSH:D005099|UMLS:C0015310|SNOMEDCT_US:399054005|SNOMEDCT_US:399252000 hp.json Outward facing eye ball http://purl.obolibrary.org/obo/HP_0000577 hposlim_core HP:0012569 biolink:PhenotypicFeature Delayed menarche First period after the age of 15 years. UMLS:C0949173 hp.json Delayed start of first period http://purl.obolibrary.org/obo/HP_0012569 HP:0000570 biolink:PhenotypicFeature Abnormal saccadic eye movements An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. UMLS:C1842584|UMLS:C4025841 hp.json Abnormality of saccadic eye movements|Impaired saccades http://purl.obolibrary.org/obo/HP_0000570 HP:0012550 biolink:PhenotypicFeature Colonic varices The presence of varices (enlarged and convoluted blood vessels) in the colon. UMLS:C4022853 hp.json http://purl.obolibrary.org/obo/HP_0012550 HP:0012551 biolink:PhenotypicFeature Absent neutrophil specific granules Lack of specific granules in neutrophils. UMLS:C4022852 hp.json http://purl.obolibrary.org/obo/HP_0012551 HP:0012552 biolink:PhenotypicFeature Increased neutrophil nuclear projections Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs. UMLS:C4022851 hp.json http://purl.obolibrary.org/obo/HP_0012552 HP:0012553 biolink:PhenotypicFeature Hypoplastic thumbnail A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail. UMLS:C4022850 hp.json Small thumbnail|Underdeveloped thumbnail http://purl.obolibrary.org/obo/HP_0012553 HP:0012554 biolink:PhenotypicFeature Absent thumbnail Absence of thumb nail. UMLS:C4022849 hp.json http://purl.obolibrary.org/obo/HP_0012554 HP:0012555 biolink:PhenotypicFeature Absent nail of hallux Absent nail of big toe. UMLS:C4021081 hp.json Absent big toe nail|Absent nail of big toe http://purl.obolibrary.org/obo/HP_0012555 HP:0012556 biolink:PhenotypicFeature Hyperbeta-alaninemia Increased concentration of beta-alanine in the blood. UMLS:C4021080 hp.json Hyperbetaalaninemia|High blood beta-alanine levels http://purl.obolibrary.org/obo/HP_0012556 HP:0012557 biolink:PhenotypicFeature EEG with centrotemporal focal spike waves EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. UMLS:C4022848 hp.json http://purl.obolibrary.org/obo/HP_0012557 HP:0000582 biolink:PhenotypicFeature Upslanted palpebral fissure The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. SNOMEDCT_US:246799009|UMLS:C0423109 hp.json Upslanting palpebral fissures|Mongoloid slant|Upward slanting of the opening between the eyelids|Upward slanted palpebral fissures|Upslanted palpebral fissures|Upward slanting of palpebral fissures|Upward slanting palpebral fissures http://purl.obolibrary.org/obo/HP_0000582 hposlim_core HP:0000585 biolink:PhenotypicFeature Band keratopathy An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. MSH:C562399|SNOMEDCT_US:35055000|UMLS:C0155120 hp.json Calcific band keratopathy http://purl.obolibrary.org/obo/HP_0000585 hposlim_core HP:0000584 biolink:PhenotypicFeature Punctate corneal epithelial erosions UMLS:C1832170 hp.json http://purl.obolibrary.org/obo/HP_0000584 HP:0000587 biolink:PhenotypicFeature Abnormality of the optic nerve Abnormality of the optic nerve. UMLS:C0029131 hp.json Optic nerve issue|optic nerve abnormalities http://purl.obolibrary.org/obo/HP_0000587 hposlim_core CHEBI:66998 biolink:ChemicalSubstance histidinate derivative A carboxylic acid anion which is a conjugate base of a histidine derivative having either D- or L-configuration. hp.json histidinate derivatives http://purl.obolibrary.org/obo/CHEBI_66998 3_STAR HP:0000586 biolink:PhenotypicFeature Shallow orbits Reduced depth of the orbits associated with prominent-appearing ocular globes. UMLS:C1865244 hp.json Decreased depth of orbits|Shallow eye sockets|Small shallow orbits|Decreased depth of eye sockets http://purl.obolibrary.org/obo/HP_0000586 HP:0000589 biolink:PhenotypicFeature Coloboma A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Fyler:4311|SNOMEDCT_US:92828000|UMLS:C0009363|MSH:D003103|SNOMEDCT_US:93390002 hp.json Ocular coloboma|Ocular colobomas|Notched pupil http://purl.obolibrary.org/obo/HP_0000589 HP:0000588 biolink:PhenotypicFeature Optic disc coloboma A cleft of the optic nerve that extends inferiorly. MSH:C535970|SNOMEDCT_US:17541006|SNOMEDCT_US:44295002|UMLS:C0155299 hp.json Optic disk coloboma|Coloboma of optic nerve|Optic nerve coloboma http://purl.obolibrary.org/obo/HP_0000588 hposlim_core HP:0012558 biolink:PhenotypicFeature Abnormal T3/T4 ratio A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal. UMLS:C4022847 hp.json http://purl.obolibrary.org/obo/HP_0012558 HP:0012559 biolink:PhenotypicFeature Increased T3/T4 ratio A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. UMLS:C4022846 hp.json http://purl.obolibrary.org/obo/HP_0012559 HP:0000581 biolink:PhenotypicFeature Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. MSH:D016569|UMLS:C0005744 hp.json Narrow opening between the eyelids|Decreased width of palpebral fissure http://purl.obolibrary.org/obo/HP_0000581 hposlim_core HP:0000580 biolink:PhenotypicFeature Pigmentary retinopathy An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. SNOMEDCT_US:28835009|UMLS:C0035334|MSH:D012174 hp.json Retinal pigmentary degeneration|Retinal pigmentary clumping|Pigmentary retinal deposits|Retinal pigment clumping http://purl.obolibrary.org/obo/HP_0000580 CHEBI:64365 biolink:ChemicalSubstance aralkylamino compound An organic amino compound in which an aminoalkyl group is linked to an arene. hp.json aralkylamino compounds http://purl.obolibrary.org/obo/CHEBI_64365 3_STAR HP:0012594 biolink:PhenotypicFeature Moderate albuminuria The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). SNOMEDCT_US:312975006|UMLS:C1654921|UMLS:C0730345 hp.json High urine albumin levels|Microalbuminuria http://purl.obolibrary.org/obo/HP_0012594 HP:0012595 biolink:PhenotypicFeature Mild proteinuria Mildly increased levels of protein in the urine (150-500 mg per day in adults). UMLS:C4022832 hp.json http://purl.obolibrary.org/obo/HP_0012595 HP:0012596 biolink:PhenotypicFeature Moderate proteinuria Moderately increased levels of protein in the urine (500-1000 mg per day in adults). UMLS:C4022831 hp.json http://purl.obolibrary.org/obo/HP_0012596 HP:0012597 biolink:PhenotypicFeature Heavy proteinuria Severely increased levels of protein in the urine (1000-3000 mg per day in adults). UMLS:C4022830 hp.json Severly high blood protein levels http://purl.obolibrary.org/obo/HP_0012597 HP:0012598 biolink:PhenotypicFeature Abnormal urine potassium concentration An abnormal concentration of potassium(1+) in the urine. UMLS:C4022829 hp.json Abnormal urine K concentration http://purl.obolibrary.org/obo/HP_0012598 HP:0012599 biolink:PhenotypicFeature Abnormal urine phosphate concentration An abnormal phosphate concentration in the urine. UMLS:C4022828 hp.json http://purl.obolibrary.org/obo/HP_0012599 HP:0012590 biolink:PhenotypicFeature Abnormal urine output An abnormal amount of urine production. UMLS:C3693260 hp.json http://purl.obolibrary.org/obo/HP_0012590 HP:0012591 biolink:PhenotypicFeature Abnormal urinary electrolyte concentration An abnormality in the concentration of electrolytes in the urine. UMLS:C4022833 hp.json Urinary electrolyte imbalance http://purl.obolibrary.org/obo/HP_0012591 HP:0012592 biolink:PhenotypicFeature Albuminuria Increased concentration of albumin in the urine. MSH:D000419|SNOMEDCT_US:274769005|UMLS:C0001925 hp.json http://purl.obolibrary.org/obo/HP_0012592 HP:0012593 biolink:PhenotypicFeature Nephrotic range proteinuria Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. UMLS:C0445118|SNOMEDCT_US:264867001 hp.json http://purl.obolibrary.org/obo/HP_0012593 HP:0012740 biolink:PhenotypicFeature Papilloma A tumor of the skin or mucous membrane with finger-like projections. MSH:D010212|UMLS:C0030354|SNOMEDCT_US:23730008|SNOMEDCT_US:711329002 hp.json http://purl.obolibrary.org/obo/HP_0012740 CHEBI:30921 biolink:ChemicalSubstance glutarate(2-) A dicarboxylic acid dianion obtained by deprotonation of both the carboxy groups of glutaric acid. Reaxys:3904695|Beilstein:3904695|Gmelin:240388 hp.json glutarate|pentanedioate http://purl.obolibrary.org/obo/CHEBI_30921 3_STAR HP:0012741 biolink:PhenotypicFeature Unilateral cryptorchidism Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. MSH:D003456|UMLS:C0431664|SNOMEDCT_US:268227001 hp.json Cryptorchidism, unilateral http://purl.obolibrary.org/obo/HP_0012741 UBERON:0019198 biolink:AnatomicalEntity dorsal nerve of clitoris The deep terminal division of the pudendal nerve that runs along the dorsum of the clitoral shaft and innervates the the glans clitoris. FMA:21870 hp.json dorsal nerve of the clitoris|nervus dorsalis clitoridis http://purl.obolibrary.org/obo/UBERON_0019198 HP:0012742 biolink:PhenotypicFeature Thin fingernail Fingernail that appears thin when viewed on end. UMLS:C4022750 hp.json Thin fingernail http://purl.obolibrary.org/obo/HP_0012742 CHEBI:30920 biolink:ChemicalSubstance 3-hydroxy-3-methylglutarate(1-) A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxylic acid groups of 3-hydroxy-3-methylglutaric acid. hp.json 4-carboxy-3-hydroxy-3-methylbutanoate http://purl.obolibrary.org/obo/CHEBI_30920 3_STAR HP:0012743 biolink:PhenotypicFeature Abdominal obesity Excessive fat around the stomach and abdomen. MSH:D056128|SNOMEDCT_US:248311001|UMLS:C0311277 hp.json Central obesity|Abdominal obesity http://purl.obolibrary.org/obo/HP_0012743 UBERON:0019196 biolink:AnatomicalEntity iliac artery endothelium BTO:0004661 hp.json http://purl.obolibrary.org/obo/UBERON_0019196 HP:0012744 biolink:PhenotypicFeature Femoral aplasia Failure of the femur to develop. SNOMEDCT_US:47276000|UMLS:C0265629 hp.json Absent femur|Aplasia of the femur|Absent thighbone http://purl.obolibrary.org/obo/HP_0012744 UBERON:0019197 biolink:AnatomicalEntity dorsal nerve of penis The deep terminal division of the pudendal nerve that runs along the dorsum of the penis and innervates the the corpus cavernosum penis, the prepuce and the glans penis. FMA:21869 hp.json nervus dorsalis penis |nervus dorsalis penis|dorsal nerve of penis|dorsal nerves of the penis http://purl.obolibrary.org/obo/UBERON_0019197 HP:0000756 biolink:PhenotypicFeature Agoraphobia A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather. SNOMEDCT_US:70691001|MSH:D000379|SNOMEDCT_US:247830007|UMLS:C0001818 hp.json Fear of open spaces http://purl.obolibrary.org/obo/HP_0000756 HP:0000758 biolink:PhenotypicFeature Abnormal nonverbal communicative behavior Any abnormal nonverbal communication, such as reduced use of eye-to-eye gaze, atypical facial expressions, body posture, and gestures. UMLS:C4021798 hp.json Impaired use of nonverbal behaviours|Impaired use of nonverbal behaviors http://purl.obolibrary.org/obo/HP_0000758 HP:0000757 biolink:PhenotypicFeature Lack of insight UMLS:C0233824|SNOMEDCT_US:24340004 hp.json Lack of insight http://purl.obolibrary.org/obo/HP_0000757 HP:0000759 biolink:PhenotypicFeature Abnormal peripheral nervous system morphology A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). SNOMEDCT_US:42658009|MSH:D010523|UMLS:C0031117|UMLS:C4025831|SNOMEDCT_US:302226006 hp.json Abnormal peripheral nervous system structure|Peripheral nervous system disease http://purl.obolibrary.org/obo/HP_0000759 BSPO:0015014 biolink:NamedThing immediately superficial to x immediately superficial to y iff x superficial to y and x is contiguous with y. BSPO:0015014 hp.json http://purl.obolibrary.org/obo/BSPO_0015014 HP:0000750 biolink:PhenotypicFeature Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age. UMLS:C0233715|UMLS:C0454644|UMLS:C0241210|UMLS:C0023012|SNOMEDCT_US:29164008|SNOMEDCT_US:229721007|SNOMEDCT_US:62415009|SNOMEDCT_US:162294008|MSH:D007805 hp.json Delayed speech and language development|Language delay|Delayed speech development|Delayed speech|Speech and language difficulties|Language delayed|Impaired speech and language development|Speech delay|Poor speech acquisition|Speech and language delay|Speech difficulties|Poor speech development|Delayed language development|Poor language development|Late-onset speech development|Impaired speech development|Deficiency of speech development|Language development deficit|Delayed speech acquisition http://purl.obolibrary.org/obo/HP_0000750 HP:0000752 biolink:PhenotypicFeature Hyperactivity Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. UMLS:C0424295|SNOMEDCT_US:44548000|MSH:D006948 hp.json Hyperactive behaviour|Hyperactive behavior|More active than typical http://purl.obolibrary.org/obo/HP_0000752 HP:0000751 biolink:PhenotypicFeature Personality changes An abnormal shift in patterns of thinking, acting, or feeling. SNOMEDCT_US:192073007|SNOMEDCT_US:102943000|UMLS:C0240735 hp.json Personality change|Personality changes http://purl.obolibrary.org/obo/HP_0000751 HP:0000753 biolink:PhenotypicFeature Autism with high cognitive abilities UMLS:C4025832 hp.json http://purl.obolibrary.org/obo/HP_0000753 HP:0012745 biolink:PhenotypicFeature Short palpebral fissure Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. UMLS:C0423112|SNOMEDCT_US:246802000 hp.json Short opening between the eyelids|Decreased height of palpebral fissure|Short palpebral fissures http://purl.obolibrary.org/obo/HP_0012745 hposlim_core HP:0012746 biolink:PhenotypicFeature Thin toenail Toenail that appears thin when viewed on end. UMLS:C3554113 hp.json Thin toenail|Thin toenails http://purl.obolibrary.org/obo/HP_0012746 HP:0012747 biolink:PhenotypicFeature Abnormal brainstem MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. UMLS:C4022749 hp.json http://purl.obolibrary.org/obo/HP_0012747 HP:0012748 biolink:PhenotypicFeature Focal T2 hyperintense brainstem lesion A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. UMLS:C4022748 hp.json http://purl.obolibrary.org/obo/HP_0012748 UBERON:0019190 biolink:AnatomicalEntity mucous gland of lung FMA:13119|SCTID:88410004|BTO:0004638 hp.json bronchial mucous gland|peribronchial gland|bronchial gland http://purl.obolibrary.org/obo/UBERON_0019190 human_reference_atlas HP:0012749 biolink:PhenotypicFeature Focal T2 hypointense brainstem lesion A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem. UMLS:C4022747 hp.json http://purl.obolibrary.org/obo/HP_0012749 UBERON:0019189 biolink:AnatomicalEntity carotid artery endothelium BTO:0004626 hp.json carotid epithelium|carotid endothelium http://purl.obolibrary.org/obo/UBERON_0019189 HP:0012730 biolink:PhenotypicFeature Aglossia Absence of the tongue owing to a developmental abnormality. SNOMEDCT_US:74788000|UMLS:C0158663 hp.json Failure of development of tongue|Missing tongue|Absence of tongue http://purl.obolibrary.org/obo/HP_0012730 HP:0012731 biolink:PhenotypicFeature Ectopic anterior pituitary gland Abnormal anatomic location of the anterior pituitary gland. UMLS:C4022751 hp.json http://purl.obolibrary.org/obo/HP_0012731 HP:0012732 biolink:PhenotypicFeature Anorectal anomaly An abnormality of the anus or rectum. UMLS:C3495676|MSH:D000071056|SNOMEDCT_US:33225004 hp.json http://purl.obolibrary.org/obo/HP_0012732 HP:0012733 biolink:PhenotypicFeature Macule A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. SNOMEDCT_US:112629002|UMLS:C0332573 hp.json Flat, discolored area of skin|Flat, discoloured area of skin http://purl.obolibrary.org/obo/HP_0012733 HP:0000767 biolink:PhenotypicFeature Pectus excavatum A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. SNOMEDCT_US:391987005|UMLS:C2051831 hp.json Funnel chest http://purl.obolibrary.org/obo/HP_0000767 hposlim_core HP:0000766 biolink:PhenotypicFeature Abnormal sternum morphology An anomaly of the sternum, also known as the breastbone. UMLS:C1860493 hp.json Pectus excavatum or carinatum|Sternal anomalies|Abnormality of the sternum|Pectus deformity|Pectus deformities|Pectus carinatum or pectus excavatum|Pectus excavatum or pectus carinatum|Pectus excavatum/carinatum http://purl.obolibrary.org/obo/HP_0000766 hposlim_core HP:0000769 biolink:PhenotypicFeature Abnormality of the breast An abnormality of the breast. UMLS:C4025829 hp.json Abnormality of the breast http://purl.obolibrary.org/obo/HP_0000769 hposlim_core HP:0000768 biolink:PhenotypicFeature Pectus carinatum A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. SNOMEDCT_US:205101001|MSH:D066166|UMLS:C0158731 hp.json Pigeon chest http://purl.obolibrary.org/obo/HP_0000768 hposlim_core GO:1904178 biolink:BiologicalProcess negative regulation of adipose tissue development Any process that stops, prevents or reduces the frequency, rate or extent of adipose tissue development. hp.json down regulation of adipose tissue development|inhibition of adipogenesis|inhibition of adipose tissue development|down-regulation of adipose tissue development|downregulation of adipogenesis|down regulation of adipogenesis|downregulation of adipose tissue development|down-regulation of adipogenesis|negative regulation of adipogenesis http://purl.obolibrary.org/obo/GO_1904178 GO:1904177 biolink:BiologicalProcess regulation of adipose tissue development Any process that modulates the frequency, rate or extent of adipose tissue development. hp.json regulation of adipogenesis http://purl.obolibrary.org/obo/GO_1904177 HP:0000763 biolink:PhenotypicFeature Sensory neuropathy Peripheral neuropathy affecting the sensory nerves. UMLS:C0151313|SNOMEDCT_US:95662005 hp.json Damage to nerves that sense feeling|Peripheral sensory neuropathy http://purl.obolibrary.org/obo/HP_0000763 HP:0000762 biolink:PhenotypicFeature Decreased nerve conduction velocity A reduction in the speed at which electrical signals propagate along the axon of a neuron. UMLS:C1857640 hp.json Slowed nerve conduction velocities|Reduced nerve conduction velocities|Decreased nerve conduction velocities|Decreased NCV|Delayed nerve conduction velocity|Slow nerve conduction velocity http://purl.obolibrary.org/obo/HP_0000762 CHEBI:17933 biolink:ChemicalSubstance calcidiol A hydroxycalciol that is calciol in which the hydrogen at position 25 has been replaced by a hydroxy group. A prehormone resulting from the oxidation of calciol in the liver, it is further hydroxylated in the kidney to give calcitriol, the active form of vitamin D3. Drug_Central:464|PMID:22487892|PMID:9080330|DrugBank:DB00146|PDBeChem:VDY|PMID:22536761|PMID:18689406|CAS:19356-17-3|Wikipedia:Calcifediol|LIPID_MAPS_instance:LMST03020246|CAS:19356-17-3|PMID:23566108|PMID:23090338|Reaxys:4270041|Beilstein:4270041|KEGG:C01561|PMID:16549446 hp.json (3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-3,25-diol|(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-3,25-diol|25-hydroxyvitamin D3|calcifediol|Calcidiol|(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-triene-3,25-diol|3-{2-[1-(5-HYDROXY-1,5-DIMETHYL-HEXYL)-7A-METHYL-OCTAHYDRO-INDEN-4-YLIDENE]-ETHYLIDENE}-4-METHYLENE-CYCLOHEXANOL|(3S,5Z,7E)-9,10-secocholesta-5,7,10-triene-3,25-diol|calcifediol|Calcifediol anhydrous|Calcifediol|25-Hydroxyvitamin D3|calcidiol|25-hydroxycholecalciferol|25(OH)D3|calcifediolum|Rayaldee http://purl.obolibrary.org/obo/CHEBI_17933 3_STAR HP:0000765 biolink:PhenotypicFeature Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). UMLS:C4021797 hp.json Abnormality of the thorax|Abnormality of the chest|Structural abnormality of the chest wall http://purl.obolibrary.org/obo/HP_0000765 GO:1904172 biolink:BiologicalProcess positive regulation of bleb assembly Any process that activates or increases the frequency, rate or extent of bleb assembly. hp.json upregulation of cell blebbing|up regulation of bleb assembly|activation of bleb assembly|upregulation of bleb assembly|up-regulation of cell blebbing|up regulation of cell blebbing|activation of cell blebbing|positive regulation of cell blebbing|up-regulation of bleb assembly http://purl.obolibrary.org/obo/GO_1904172 GO:1904171 biolink:BiologicalProcess negative regulation of bleb assembly Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly. hp.json down-regulation of cell blebbing|negative regulation of cell blebbing|down regulation of cell blebbing|down-regulation of bleb assembly|inhibition of cell blebbing|downregulation of cell blebbing|down regulation of bleb assembly|inhibition of bleb assembly|downregulation of bleb assembly http://purl.obolibrary.org/obo/GO_1904171 HP:0000764 biolink:PhenotypicFeature Peripheral axonal degeneration Progressive deterioration of peripheral axons. UMLS:C4025830 hp.json http://purl.obolibrary.org/obo/HP_0000764 HP:0012734 biolink:PhenotypicFeature Ketotic hypoglycemia Low blood glucose is accompanied by elevated levels of ketone bodies in the body. UMLS:C0271713|SNOMEDCT_US:20825002 hp.json Ketotic low blood sugar http://purl.obolibrary.org/obo/HP_0012734 GO:1904170 biolink:BiologicalProcess regulation of bleb assembly Any process that modulates the frequency, rate or extent of bleb assembly. hp.json regulation of cell blebbing http://purl.obolibrary.org/obo/GO_1904170 HP:0012735 biolink:PhenotypicFeature Cough A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. SNOMEDCT_US:49727002|UMLS:C0010200|SNOMEDCT_US:263731006|SNOMEDCT_US:272039006|MSH:D003371 hp.json Cough|Coughing http://purl.obolibrary.org/obo/HP_0012735 HP:0012736 biolink:PhenotypicFeature Profound global developmental delay A profound delay in the achievement of motor or mental milestones in the domains of development of a child. UMLS:C1855773|UMLS:C3553450 hp.json Global developmental delay, profound|Psychomotor retardation, profound http://purl.obolibrary.org/obo/HP_0012736 HP:0012737 biolink:PhenotypicFeature Small intestinal polyp A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. UMLS:C1302645|SNOMEDCT_US:399723004 hp.json http://purl.obolibrary.org/obo/HP_0012737 HP:0012738 biolink:PhenotypicFeature Agenesis of canine Agenesis of canine tooth. UMLS:C4280311|UMLS:C4021072 hp.json Absence of eye tooth|Absent canines|Failure of development of eye tooth|Missing eye tooth|Missing canine|Failure of development of canine|Absence of canine http://purl.obolibrary.org/obo/HP_0012738 HP:0012739 biolink:PhenotypicFeature Agenesis of the small intestine Failure to develop of the small intestine. UMLS:C4021071 hp.json Small bowel agenesis|Undeveloped small intestine http://purl.obolibrary.org/obo/HP_0012739 HP:0012720 biolink:PhenotypicFeature Neoplasm of the nose Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity. NCIT:C3262|UMLS:C0751394|MSH:D009669|SNOMEDCT_US:126669004|UMLS:C0028433 hp.json Nasal tumour|Nose cancer|Nasal tumor|Tumor of the nose|Nasal neoplasm|Tumour of the nose|Neoplasia of the nose http://purl.obolibrary.org/obo/HP_0012720 HP:0012721 biolink:PhenotypicFeature Venous malformation A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. UMLS:C2937220|SNOMEDCT_US:297222002 hp.json Venous malformations http://purl.obolibrary.org/obo/HP_0012721 HP:0012722 biolink:PhenotypicFeature Heart block Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. UMLS:C0018794|SNOMEDCT_US:233916004|MSH:D006327 hp.json http://purl.obolibrary.org/obo/HP_0012722 HP:0000734 biolink:PhenotypicFeature Disinhibition A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. UMLS:C0424296|SNOMEDCT_US:247977003 hp.json Disinhibition http://purl.obolibrary.org/obo/HP_0000734 HP:0000733 biolink:PhenotypicFeature Motor stereotypy A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral. SNOMEDCT_US:5507002|MSH:D013239|UMLS:C0038273|SNOMEDCT_US:84328007|UMLS:C0038271|MSH:D019956 hp.json Stereotypical motor behavior|Stereotypic behavior|Repetitive or self-injurious behavior|Stereotyped, repetitive behaviour|Stereotypic behaviors|Repetitive or self-injurious behaviour|Stereotyped behaviours|Stereotyped behavior|Stereotyped behaviour|Stereotyped behaviors|Stereotypical motor behaviors|Repetitive movements|Stereotyped, repetitive behavior|Stereotypic behaviour|Stereotypical motor behaviours|Stereotypic behaviours http://purl.obolibrary.org/obo/HP_0000733 HP:0000736 biolink:PhenotypicFeature Short attention span Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. SNOMEDCT_US:247762003|UMLS:C0262630 hp.json Short attention span|Easily distracted|Poor attention span|Problem paying attention http://purl.obolibrary.org/obo/HP_0000736 HP:0000735 biolink:PhenotypicFeature Impaired social interactions Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. UMLS:C0150080|MSH:D000067404|SNOMEDCT_US:88598008 hp.json Impaired social interaction|Impaired social interactions|Poor social interactions http://purl.obolibrary.org/obo/HP_0000735 HP:0000738 biolink:PhenotypicFeature Hallucinations Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. MSH:D006212|UMLS:C0018524|UMLS:C0235153|SNOMEDCT_US:7011001 hp.json Hallucinations|Sensory hallucination|Hallucination http://purl.obolibrary.org/obo/HP_0000738 HP:0000737 biolink:PhenotypicFeature Irritability A proneness to anger, i.e., a condition of being easily bothered or annoyed. UMLS:C2700617 hp.json Irritable|Irritability http://purl.obolibrary.org/obo/HP_0000737 HP:0000739 biolink:PhenotypicFeature Anxiety Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. UMLS:C4020884|MSH:D001007|SNOMEDCT_US:48694002|UMLS:C0003467 hp.json Anxiety disease|Anxiousness|Excessive, persistent worry and fear|Anxiety http://purl.obolibrary.org/obo/HP_0000739 GO:1904179 biolink:BiologicalProcess positive regulation of adipose tissue development Any process that activates or increases the frequency, rate or extent of adipose tissue development. hp.json positive regulation of adipogenesis|upregulation of adipose tissue development|up regulation of adipogenesis|up-regulation of adipogenesis|up regulation of adipose tissue development|activation of adipose tissue development|up-regulation of adipose tissue development|activation of adipogenesis|upregulation of adipogenesis http://purl.obolibrary.org/obo/GO_1904179 CHEBI:17968 biolink:ChemicalSubstance butyrate A short-chain fatty acid anion that is the conjugate base of butyric acid, obtained by deprotonation of the carboxy group. CAS:461-55-2|UM-BBD_compID:c0035|Gmelin:324289|PMID:7496326|KEGG:C00246|PMID:17190852|Reaxys:3601060|Beilstein:3601060|MetaCyc:BUTYRIC_ACID hp.json propanecarboxylate|butanoate|n-butanoate|butanoate|butanoate|1-propanecarboxylate|butyrate|butanoic acid, ion(1-)|n-butyrate|CH3-[CH2]2-COO(-)|propylformate|1-butanoate|butanate|1-butyrate http://purl.obolibrary.org/obo/CHEBI_17968 3_STAR UBERON:0007197 biolink:AnatomicalEntity hermaphroditic organism Multicellular organism that can produce both male and female gametes. TADS:0000601|WBbt:0007849|BILA:0000029|AAO:0010035|CARO:0000029|HAO:0000029 hp.json dioecious organism|hermaphrodite http://purl.obolibrary.org/obo/UBERON_0007197 UBERON:0007196 biolink:AnatomicalEntity tracheobronchial tree The structure from the trachea, bronchi, and bronchioles that forms the airways that supply air to the lungs. The lining of the tracheobronchial tree consists of ciliated columnar epithelial cells. NCIT:C117875|FMA:7393 hp.json tracheobronchial system|arbor tracheobronchialis http://purl.obolibrary.org/obo/UBERON_0007196 organ_slim|pheno_slim HP:0000732 biolink:PhenotypicFeature Inflexible adherence to routines or rituals UMLS:C1837653 hp.json http://purl.obolibrary.org/obo/HP_0000732 UBERON:0007195 biolink:AnatomicalEntity stroma of bone marrow The stroma of the bone marrow is all tissue not directly involved in the primary function of hematopoiesis. The yellow bone marrow belongs here, and makes the majority of the bone marrow stroma, in addition to stromal cells located in the red bone marrow. Yellow bone marrow is found in the Medullary cavity. Still, the stroma is indirectly involved in hematopoiesis, since it provides the hematopoietic microenvironment that facilitates hematopoiesis by the parenchymal cells. For instance, they generate colony stimulating factors, affecting hematopoiesis. CALOHA:TS-0085|FMA:21426|Wikipedia:Bone_marrow#Stroma hp.json bone marrow stroma http://purl.obolibrary.org/obo/UBERON_0007195 HP:0012723 biolink:PhenotypicFeature Sinoatrial block Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. UMLS:C0037188|SNOMEDCT_US:65778007|Fyler:7014|MSH:D012848 hp.json http://purl.obolibrary.org/obo/HP_0012723 HP:0012724 biolink:PhenotypicFeature Upper eyelid edema Edema in the region of the upper eyelid. UMLS:C2025988|SNOMEDCT_US:700339006|UMLS:C3839407 hp.json Upper eyelid oedema|Cellulitis of upper eyelid|Swelling of upper eyelid|Puffiness of upper eyelid|Fullness of upper eyelid http://purl.obolibrary.org/obo/HP_0012724 HP:0012725 biolink:PhenotypicFeature Cutaneous syndactyly A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. UMLS:C1861921 hp.json Cutaneous syndactyly of digits|Syndactyly, cutaneous http://purl.obolibrary.org/obo/HP_0012725 HP:0012726 biolink:PhenotypicFeature Episodic hypokalemia An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. UMLS:C4022754 hp.json Recurrent low potassium http://purl.obolibrary.org/obo/HP_0012726 HP:0012727 biolink:PhenotypicFeature Thoracic aortic aneurysm An abnormal localized widening (dilatation) of the thoracic aorta. SNOMEDCT_US:433068007|UMLS:C0162872|MSH:D017545 hp.json Dilatation of the thoracic aorta http://purl.obolibrary.org/obo/HP_0012727 HP:0012728 biolink:PhenotypicFeature Fusiform descending thoracic aortic aneurysm A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall UMLS:C4022753 hp.json Dilatation of the fusiform descending thoracic aorta http://purl.obolibrary.org/obo/HP_0012728 HP:0012729 biolink:PhenotypicFeature Saccular descending thoracic aortic aneurysm An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall UMLS:C4022752 hp.json Dilatation of the saccular descending thoracic aorta http://purl.obolibrary.org/obo/HP_0012729 OBO:nbo#qualifier biolink:NamedThing qualifier hp.json http://purl.obolibrary.org/obo/nbo#qualifier CHEBI:30911 biolink:ChemicalSubstance glucitol Beilstein:1721909|Gmelin:83165|Wikipedia:Sorbitol hp.json rel-(2R,3R,4R,5S)-hexane-1,2,3,4,5,6-hexol|glucitol|Sorbitol|gulitol http://purl.obolibrary.org/obo/CHEBI_30911 3_STAR HP:0012710 biolink:PhenotypicFeature Ingrown nail Excessive growth of a nail laterally into the nail fold. UMLS:C0027343|SNOMEDCT_US:400097005|SNOMEDCT_US:400200009|MSH:D009263 hp.json Ingrown nail http://purl.obolibrary.org/obo/HP_0012710 HP:0012711 biolink:PhenotypicFeature Delayed ossification of vertebral epiphysis A delay in the process of formation and maturation of the epiphysis of one or more vertebrae. UMLS:C4022759|UMLS:C4280312 hp.json Delayed maturation of the end part of the vertebral bone http://purl.obolibrary.org/obo/HP_0012711 CHEBI:29922 biolink:ChemicalSubstance sulfo group PDBeChem:SFO hp.json sulfo|hydroxydioxo-lambda(6)-sulfanyl|hydroxysulfonyl|-S(O)2(OH)|SULFO GROUP http://purl.obolibrary.org/obo/CHEBI_29922 3_STAR HP:0000745 biolink:PhenotypicFeature Diminished motivation A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. UMLS:C0456814|SNOMEDCT_US:277521002 hp.json Lacking in initiative|Lack of motivation|Lacks initiative|Diminished motivation|Lack of initiative http://purl.obolibrary.org/obo/HP_0000745 HP:0000744 biolink:PhenotypicFeature Low frustration tolerance The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors. UMLS:C0548883 hp.json Intolerance to frustration http://purl.obolibrary.org/obo/HP_0000744 UBERON:0007182 biolink:AnatomicalEntity muscle layer of infundibulum of uterine tube A muscle layer that is part of a uterine tube infundibulum. EMAPA:31264|FMA:18336 hp.json muscle layer of infundibulum of fallopian tube|muscle layer of infundibulum of oviduct|muscularis of infundibulum of uterine tube http://purl.obolibrary.org/obo/UBERON_0007182 UBERON:0007181 biolink:AnatomicalEntity serosa of infundibulum of uterine tube A serous membrane that is part of a uterine tube infundibulum. EMAPA:29903|FMA:18324 hp.json serosa of infundibulum of oviduct|serosa of infundibulum of fallopian tube http://purl.obolibrary.org/obo/UBERON_0007181 HP:0000746 biolink:PhenotypicFeature Delusions A false belief that is held despite evidence to the contrary. MSH:D003702|SNOMEDCT_US:2073000|UMLS:C0011253 hp.json Delusions http://purl.obolibrary.org/obo/HP_0000746 HP:0000749 biolink:PhenotypicFeature Paroxysmal bursts of laughter UMLS:C1839749 hp.json Paroxysmal laughter http://purl.obolibrary.org/obo/HP_0000749 HP:0000748 biolink:PhenotypicFeature Inappropriate laughter SNOMEDCT_US:247985007|UMLS:C0424304 hp.json Inappropriate laughter http://purl.obolibrary.org/obo/HP_0000748 CHEBI:30916 biolink:ChemicalSubstance 2-oxoglutarate(1-) A dicarboxylic acid monoanion resulting from selective deprotonation of the 1-carboxy group of 2-oxoglutaric acid. Gmelin:2159365|Beilstein:4132418|Reaxys:4132418 hp.json 2-ketoglutarate|4-carboxy-2-oxobutanoate http://purl.obolibrary.org/obo/CHEBI_30916 3_STAR CHEBI:30915 biolink:ChemicalSubstance 2-oxoglutaric acid An oxo dicarboxylic acid that consists of glutaric acid bearing an oxo substituent at position 2. It is an intermediate metabolite in Krebs cycle. Wikipedia:Alpha-Ketoglutaric_acid|PMID:21964641|Reaxys:1705689|Beilstein:1705689|CAS:328-50-7|PMID:20200292|KEGG:C00026|HMDB:HMDB0000208|DrugBank:DB02926|PMID:20155414|PMID:20583149|CAS:328-50-7|CAS:328-50-7|PMID:17439666|MetaCyc:2-KETOGLUTARATE|PMID:18990406|KNApSAcK:C00000769|Gmelin:602480|PDBeChem:AKG|PMID:20636327 hp.json alpha-ketoglutaric acid|alpha-Ketoglutaric acid|Oxoglutaric acid|2-oxopentanedioic acid|2-Ketoglutaric acid http://purl.obolibrary.org/obo/CHEBI_30915 3_STAR CHEBI:66916 biolink:ChemicalSubstance alanine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of alanine; major species at pH 7.3. hp.json 2-azaniumylpropanoate|2-ammoniopropanoate http://purl.obolibrary.org/obo/CHEBI_66916 3_STAR UBERON:0007188 biolink:AnatomicalEntity mesothelium of serous pericardium A mesothelium that is part of a serous pericardium. FMA:18149|EMAPA:16133|SCTID:67300002|BTO:0003157 hp.json mesothelium of pericardium|pericardial mesothelium|serous pericardium mesothelium http://purl.obolibrary.org/obo/UBERON_0007188 HP:0000741 biolink:PhenotypicFeature Apathy UMLS:C0085632|MSH:D057565|SNOMEDCT_US:20602000 hp.json Lack of feeling, emotion, interest http://purl.obolibrary.org/obo/HP_0000741 HP:0000740 biolink:PhenotypicFeature Episodic paroxysmal anxiety Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable. UMLS:C1854339 hp.json http://purl.obolibrary.org/obo/HP_0000740 HP:0000743 biolink:PhenotypicFeature Frontal release signs Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. UMLS:C1833297 hp.json Frontal release reflexes http://purl.obolibrary.org/obo/HP_0000743 HP:0000742 biolink:PhenotypicFeature Self-mutilation SNOMEDCT_US:130968006|MSH:D012652|UMLS:C0036601 hp.json Self mutilation|Deliberate self-harm|Self-mutilation http://purl.obolibrary.org/obo/HP_0000742 HP:0012712 biolink:PhenotypicFeature Mild hearing impairment The presence of a mild form of hearing impairment. UMLS:C4022758 hp.json Mild hearing impairment http://purl.obolibrary.org/obo/HP_0012712 HP:0012713 biolink:PhenotypicFeature Moderate hearing impairment The presence of a moderate form of hearing impairment. UMLS:C4022757 hp.json Moderate hearing impairment http://purl.obolibrary.org/obo/HP_0012713 HP:0012714 biolink:PhenotypicFeature Severe hearing impairment A severe form of hearing impairment. SNOMEDCT_US:3561000119106|UMLS:C3874334 hp.json Severe hearing loss|Severe deafness|Severe hearing impairment http://purl.obolibrary.org/obo/HP_0012714 HP:0012715 biolink:PhenotypicFeature Profound hearing impairment A profound (essentially complete) form of hearing impairment. UMLS:C4022756 hp.json Profound hearing impairment http://purl.obolibrary.org/obo/HP_0012715 HP:0012716 biolink:PhenotypicFeature Moderate conductive hearing impairment The presence of a moderate form of conductive hearing impairment. UMLS:C4021075 hp.json Conductive hearing loss, moderate http://purl.obolibrary.org/obo/HP_0012716 HP:0012717 biolink:PhenotypicFeature Severe conductive hearing impairment A severe form of conductive hearing impairment. UMLS:C4021074 hp.json Conductive hearing loss, severe http://purl.obolibrary.org/obo/HP_0012717 HP:0012718 biolink:PhenotypicFeature Morphological abnormality of the gastrointestinal tract Abnormal structure of the gastrointestinal tract. UMLS:C4021073 hp.json Morphological anomaly of the digestive system|Abnormal shape of the digestive system|Morphological abnormality of the GI tract http://purl.obolibrary.org/obo/HP_0012718 HP:0012719 biolink:PhenotypicFeature Functional abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. UMLS:C4022755 hp.json Functional abnormality of the GI tract|GI dysfunction http://purl.obolibrary.org/obo/HP_0012719 HP:0012781 biolink:PhenotypicFeature Mid-frequency hearing loss A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz). UMLS:C4022723 hp.json http://purl.obolibrary.org/obo/HP_0012781 HP:0012782 biolink:PhenotypicFeature Perilobar nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. SNOMEDCT_US:405935000|UMLS:C1319017 hp.json Perilobar nephrogenic rests http://purl.obolibrary.org/obo/HP_0012782 HP:0012783 biolink:PhenotypicFeature Intralobar nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. SNOMEDCT_US:405934001|UMLS:C1319016 hp.json Intralobar nephrogenic rests http://purl.obolibrary.org/obo/HP_0012783 HP:0009131 biolink:PhenotypicFeature Abnormality of the musculature of the thorax A disease or lesion affecting the muscles of the thorax. UMLS:C4024580 hp.json http://purl.obolibrary.org/obo/HP_0009131 HP:0012784 biolink:PhenotypicFeature Perinephritis Inflammation of the connective and adipose tissues surrounding the kidney. UMLS:C0031065|SNOMEDCT_US:111404004|MSH:D010501 hp.json http://purl.obolibrary.org/obo/HP_0012784 HP:0009130 biolink:PhenotypicFeature Hand muscle atrophy Muscular atrophy involving the muscles of the hand. UMLS:C0239830 hp.json Hand muscle degeneration|Amyotrophy of hand muscles|Amyotrophy involving the musculature of the hand|Hand muscle wasting|Hand muscle wasting, bilateral http://purl.obolibrary.org/obo/HP_0009130 HP:0012785 biolink:PhenotypicFeature Flexion contracture of finger Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. UMLS:C1857304 hp.json Flexion deformity of finger http://purl.obolibrary.org/obo/HP_0012785 HP:0012786 biolink:PhenotypicFeature Recurrent cystitis Repeated infections of the urinary bladder. SNOMEDCT_US:197853008|UMLS:C0581366 hp.json Recurrent bladder infections http://purl.obolibrary.org/obo/HP_0012786 HP:0012787 biolink:PhenotypicFeature Recurrent pyelonephritis Repeated episodes of pyelonephritis. UMLS:C0748199 hp.json http://purl.obolibrary.org/obo/HP_0012787 HP:0012788 biolink:PhenotypicFeature Reticulate pigmentation of oral mucosa A net-like pattern of increased pigmentation of the oral cavity. UMLS:C1852148 hp.json Reticulate pigmentation of oral mucous membrane|Mottled pigmentation of oral mucosa http://purl.obolibrary.org/obo/HP_0012788 HP:0010126 biolink:PhenotypicFeature Abnormality of the epiphysis of the proximal phalanx of the hallux In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux. UMLS:C4024033 hp.json Abnormality of the end part of the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010126 HP:0010125 biolink:PhenotypicFeature Abnormality of the epiphysis of the 1st metatarsal In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone. UMLS:C4024034 hp.json Abnormality of the end part of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010125 HP:0000799 biolink:PhenotypicFeature Renal steatosis Abnormal fat accumulation in the kidneys. UMLS:C4021796 hp.json Fatty kidney http://purl.obolibrary.org/obo/HP_0000799 HP:0010124 biolink:PhenotypicFeature Abnormality of the epiphysis of the distal phalanx of the hallux UMLS:C4024035 hp.json Abnormality of the end part of the outermost bone of the big toe bone http://purl.obolibrary.org/obo/HP_0010124 HP:0010123 biolink:PhenotypicFeature Triangular epiphyses of the hallux UMLS:C4024036 hp.json Triangular end part of the big toe bone http://purl.obolibrary.org/obo/HP_0010123 HP:0010122 biolink:PhenotypicFeature Stippling of the epiphyses of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux. UMLS:C4024037 hp.json Speckled calcifications in the end part of the big toe bone http://purl.obolibrary.org/obo/HP_0010122 HP:0010121 biolink:PhenotypicFeature Small epiphyses of the hallux UMLS:C4024038 hp.json Small end part of the big toe bone http://purl.obolibrary.org/obo/HP_0010121 HP:0010120 biolink:PhenotypicFeature Pseudoepiphyses of the hallux UMLS:C4024039 hp.json http://purl.obolibrary.org/obo/HP_0010120 HP:0012780 biolink:PhenotypicFeature Neoplasm of the ear A tumor (abnormal growth of tissue) of the ear. NCIT:C3262|MSH:D004428|UMLS:C0013449|SNOMEDCT_US:363228008 hp.json Ear tumour|Ear tumor http://purl.obolibrary.org/obo/HP_0012780 HP:0000791 biolink:PhenotypicFeature Uric acid nephrolithiasis The presence of uric acid-containing calculi (stones) in the kidneys. SNOMEDCT_US:267441009|UMLS:C0403719 hp.json Uric acid urolithiasis|Uric acid stones http://purl.obolibrary.org/obo/HP_0000791 HP:0000794 biolink:PhenotypicFeature IgA deposition in the glomerulus The presence of immunoglobulin A deposits in the glomerulus. SNOMEDCT_US:236407003|UMLS:C4025827|UMLS:C0017661|SNOMEDCT_US:68779003|MSH:D005922 hp.json IgA nephropathy http://purl.obolibrary.org/obo/HP_0000794 HP:0000793 biolink:PhenotypicFeature Membranoproliferative glomerulonephritis A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity MSH:D015432|SNOMEDCT_US:80321008|UMLS:C0017662 hp.json MPGN|Mesangiocapillary glomerulonephritis http://purl.obolibrary.org/obo/HP_0000793 HP:0000796 biolink:PhenotypicFeature Urethral obstruction Obstruction of the flow of urine through the urethra. SNOMEDCT_US:95588004|MSH:D014524|UMLS:C0041972 hp.json http://purl.obolibrary.org/obo/HP_0000796 HP:0009129 biolink:PhenotypicFeature Upper limb amyotrophy Muscular atrophy involving the muscles of the upper limbs. UMLS:C4021523 hp.json Amyotrophy involving the upper limbs http://purl.obolibrary.org/obo/HP_0009129 HP:0000795 biolink:PhenotypicFeature Abnormality of the urethra An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. UMLS:C4025826 hp.json Urethra issue http://purl.obolibrary.org/obo/HP_0000795 CHEBI:66922 biolink:ChemicalSubstance citrullinate An alpha-amino acid anion that is the conjugate base of citrulline, obtained by deprotonation of the carboxy group. hp.json 2-amino-5-(carbamoylamino)pentanoate http://purl.obolibrary.org/obo/CHEBI_66922 3_STAR HP:0010129 biolink:PhenotypicFeature Cone-shaped epiphysis of the proximal phalanx of the hallux UMLS:C4024030 hp.json Cone-shaped end part of the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010129 HP:0000798 biolink:PhenotypicFeature Oligospermia Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. MSH:D009845|UMLS:C0028960 hp.json Low sperm count http://purl.obolibrary.org/obo/HP_0000798 OBO:uberon/core#protects biolink:NamedThing protects hp.json http://purl.obolibrary.org/obo/uberon/core#protects HP:0010128 biolink:PhenotypicFeature Bracket epiphysis of the proximal phalanx of the hallux The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. UMLS:C4024031 hp.json Bracket shaped end part of the innermost bone of big toe http://purl.obolibrary.org/obo/HP_0010128 CHEBI:66924 biolink:ChemicalSubstance creatinate A monocarboxylic acid anion that is the conjugate base of creatine, obtained by deprotonation of the carboxy group. hp.json N-[amino(imino)methyl]-N-methylglycinate|(N-methylcarbamimidamido)acetate|{[imino(amino)methyl](methyl)amino}acetate http://purl.obolibrary.org/obo/CHEBI_66924 3_STAR HP:0010127 biolink:PhenotypicFeature Absent epiphysis of the proximal phalanx of the hallux Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux. UMLS:C4024032 hp.json Absent end part of the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010127 HP:0012789 biolink:PhenotypicFeature Hypoplasia of the calcaneus Underdevelopment of the heel bone. UMLS:C3550873 hp.json Underdeveloped heel bone|Hypoplastic calcaneus|Small heel bone http://purl.obolibrary.org/obo/HP_0012789 HP:0009126 biolink:PhenotypicFeature Increased adipose tissue An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). UMLS:C4024583 hp.json Increased fat tissue|Increased adipose tissue http://purl.obolibrary.org/obo/HP_0009126 HP:0009125 biolink:PhenotypicFeature Lipodystrophy Degenerative changes of the fat tissue. MSH:D008060|UMLS:C0023787|SNOMEDCT_US:71325002 hp.json Inability to make and keep healthy fat tissue http://purl.obolibrary.org/obo/HP_0009125 HP:0009128 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the musculature of the extremities UMLS:C4024581 hp.json Absent/underdeveloped muscles of extremities|Absent/small muscles of extremities http://purl.obolibrary.org/obo/HP_0009128 HP:0009127 biolink:PhenotypicFeature Abnormality of the musculature of the limbs UMLS:C4024582 hp.json Abnormal limb muscles|Muscle issues in the arms and/or legs http://purl.obolibrary.org/obo/HP_0009127 HP:0009122 biolink:PhenotypicFeature Aplasia/hypoplasia affecting bones of the axial skeleton Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. UMLS:C4024585 hp.json http://purl.obolibrary.org/obo/HP_0009122 HP:0009121 biolink:PhenotypicFeature Abnormal axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. UMLS:C4020785|UMLS:C4024586 hp.json Abnormality of the axial skeleton http://purl.obolibrary.org/obo/HP_0009121 HP:0009124 biolink:PhenotypicFeature Abnormal adipose tissue morphology An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. UMLS:C4021524 hp.json Abnormality of fat tissue|Abnormality of adipose tissue|Abnormality of fatty tissue http://purl.obolibrary.org/obo/HP_0009124 HP:0000790 biolink:PhenotypicFeature Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). UMLS:C0018965|SNOMEDCT_US:53298000|SNOMEDCT_US:34436003|MSH:D006417 hp.json Blood in urine|High urine occult blood http://purl.obolibrary.org/obo/HP_0000790 HP:0009123 biolink:PhenotypicFeature Mixed hypo- and hyperpigmentation of the skin UMLS:C4024584 hp.json http://purl.obolibrary.org/obo/HP_0009123 HP:0012770 biolink:PhenotypicFeature Reduced arm span Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). UMLS:C4022730 hp.json Reduced arm span http://purl.obolibrary.org/obo/HP_0012770 HP:0009140 biolink:PhenotypicFeature Synostosis involving bones of the feet UMLS:C4024575 hp.json Fusion involving the bones of the feet http://purl.obolibrary.org/obo/HP_0009140 HP:0012771 biolink:PhenotypicFeature Increased arm span Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). UMLS:C4022729 hp.json Increased arm span http://purl.obolibrary.org/obo/HP_0012771 HP:0012772 biolink:PhenotypicFeature Abnormal upper to lower segment ratio A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. UMLS:C4022728 hp.json http://purl.obolibrary.org/obo/HP_0012772 HP:0009142 biolink:PhenotypicFeature Duplication of bones involving the upper extremities UMLS:C4024574 hp.json Duplication of bones involving the upper extremities http://purl.obolibrary.org/obo/HP_0009142 HP:0009141 biolink:PhenotypicFeature Depletion of mitochondrial DNA in muscle tissue UMLS:C4021521 hp.json Depletion of mitochondrial dna in skeletal muscle tissue http://purl.obolibrary.org/obo/HP_0009141 HP:0012773 biolink:PhenotypicFeature Reduced upper to lower segment ratio Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. UMLS:C1836996 hp.json http://purl.obolibrary.org/obo/HP_0012773 HP:0012774 biolink:PhenotypicFeature Increased upper to lower segment ratio Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. UMLS:C1844571 hp.json http://purl.obolibrary.org/obo/HP_0012774 HP:0012775 biolink:PhenotypicFeature Stellate iris A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel. UMLS:C4022727 hp.json http://purl.obolibrary.org/obo/HP_0012775 HP:0012776 biolink:PhenotypicFeature Abnormal ciliary body morphology A structural anomaly of the ciliary body. UMLS:C4022726 hp.json Abnormality of the ciliary body http://purl.obolibrary.org/obo/HP_0012776 HP:0012777 biolink:PhenotypicFeature Retinal neoplasm A tumor (abnormal growth of tissue) of the retina. UMLS:C0524801|NCIT:C3262|MSH:D019572|SNOMEDCT_US:127002001 hp.json http://purl.obolibrary.org/obo/HP_0012777 HP:0010115 biolink:PhenotypicFeature Cone-shaped epiphyses of the hallux UMLS:C4024044 hp.json Cone-shaped end part of the big toe bone http://purl.obolibrary.org/obo/HP_0010115 HP:0010114 biolink:PhenotypicFeature Bracket epiphyses of the hallux UMLS:C4024045 hp.json Bracket shaped end part of big toe bone http://purl.obolibrary.org/obo/HP_0010114 HP:0010113 biolink:PhenotypicFeature Absent hallux epiphysis Failure to form (agenesis) of one or more epiphyses of the big toe. UMLS:C4020906 hp.json Absent end part of big toe bone|Absent epiphyses of the hallux http://purl.obolibrary.org/obo/HP_0010113 HP:0010112 biolink:PhenotypicFeature Mesoaxial foot polydactyly The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. UMLS:C4021333 hp.json Central polydactyly of feet http://purl.obolibrary.org/obo/HP_0010112 hposlim_core HP:0010111 biolink:PhenotypicFeature Short phalanx of hallux Underdevelopment (hypoplasia) of a phalanx of big toe. UMLS:C4021334 hp.json Hypoplastic phalanges of the hallux|Short bone of big toe http://purl.obolibrary.org/obo/HP_0010111 HP:0010110 biolink:PhenotypicFeature Aplasia of the phalanges of the hallux UMLS:C4024046 hp.json Absent bone of big toe http://purl.obolibrary.org/obo/HP_0010110 HP:0010119 biolink:PhenotypicFeature Ivory epiphyses of the hallux UMLS:C4024040 hp.json Increased bone density of end part of the big toe bone http://purl.obolibrary.org/obo/HP_0010119 CHEBI:66933 biolink:ChemicalSubstance N-alkylglycine Any glycine derivative in which glycine is substituted at position 2 by an alkyl group. PMID:9989229|MetaCyc:N-Alkylglycine hp.json N-alkylglycines http://purl.obolibrary.org/obo/CHEBI_66933 3_STAR HP:0010118 biolink:PhenotypicFeature Irregular epiphyses of the hallux UMLS:C4024041 hp.json Irregular end part of big toe bone http://purl.obolibrary.org/obo/HP_0010118 HP:0010117 biolink:PhenotypicFeature Fragmentation of the epiphyses of the hallux UMLS:C4024042 hp.json Fragmentation of the end part of the big toe bone http://purl.obolibrary.org/obo/HP_0010117 HP:0010116 biolink:PhenotypicFeature Enlarged epiphyses of the hallux UMLS:C4024043 hp.json Enlarged end part of the big toe bone http://purl.obolibrary.org/obo/HP_0010116 HP:0012778 biolink:PhenotypicFeature Retinal astrocytic hamartoma A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte. UMLS:C4022725 hp.json http://purl.obolibrary.org/obo/HP_0012778 HP:0009136 biolink:PhenotypicFeature Duplication involving bones of the feet UMLS:C4024578 hp.json Duplication involving bones of the feet http://purl.obolibrary.org/obo/HP_0009136 HP:0012779 biolink:PhenotypicFeature Transient hearing impairment Hearing loss that occurs acutely and resolves completely. UMLS:C4022724 hp.json http://purl.obolibrary.org/obo/HP_0012779 HP:0009139 biolink:PhenotypicFeature Osteolysis involving bones of the lower limbs UMLS:C4024576 hp.json http://purl.obolibrary.org/obo/HP_0009139 HP:0009138 biolink:PhenotypicFeature Synostosis involving bones of the lower limbs An abnormal union between bones or parts of bones lower limbs. UMLS:C4024577 hp.json Fusion involving the bones of the lower limbs http://purl.obolibrary.org/obo/HP_0009138 HP:0009132 biolink:PhenotypicFeature Abnormal tarsal bone mineral density This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. UMLS:C4021522 hp.json Abnormality of bone mineral density involving tarsal bones http://purl.obolibrary.org/obo/HP_0009132 HP:0009134 biolink:PhenotypicFeature Osteolysis involving bones of the feet UMLS:C4024579 hp.json http://purl.obolibrary.org/obo/HP_0009134 HP:0012760 biolink:PhenotypicFeature Impaired social reciprocity A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first. UMLS:C4022736 hp.json http://purl.obolibrary.org/obo/HP_0012760 HP:0012761 biolink:PhenotypicFeature Absent mastoid A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent. UMLS:C4021070 hp.json Failure of development of mastoid|Mastoid agenesis|Absent mastoids http://purl.obolibrary.org/obo/HP_0012761 HP:0012762 biolink:PhenotypicFeature Cerebral white matter atrophy The presence of atrophy (wasting) of the cerebral white matter. UMLS:C4022735 hp.json http://purl.obolibrary.org/obo/HP_0012762 HP:0012763 biolink:PhenotypicFeature Paroxysmal dyspnea A sudden attack of dyspnea that occurs while the affected person is at rest. SNOMEDCT_US:59265000|MSH:D004418|UMLS:C0013405 hp.json Paroxysmal dyspnoea http://purl.obolibrary.org/obo/HP_0012763 HP:0012764 biolink:PhenotypicFeature Orthopnea A sensation of breathlessness in the recumbent position, relieved by sitting or standing. UMLS:C0085619|SNOMEDCT_US:62744007 hp.json http://purl.obolibrary.org/obo/HP_0012764 HP:0012765 biolink:PhenotypicFeature Widened cerebellar subarachnoid space An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. UMLS:C4022734 hp.json http://purl.obolibrary.org/obo/HP_0012765 HP:0012766 biolink:PhenotypicFeature Widened cerebral subarachnoid space An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. UMLS:C4022733 hp.json http://purl.obolibrary.org/obo/HP_0012766 HP:0010104 biolink:PhenotypicFeature Absent first metatarsal A developmental defect characterized by the absence of the first metatarsal bone. UMLS:C1863382 hp.json Aplasia of the 1st metatarsal|Absent 1st metatarsal|Absent 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010104 HP:0000778 biolink:PhenotypicFeature Hypoplasia of the thymus Underdevelopment of the thymus. UMLS:C4228227|UMLS:C0685891|SNOMEDCT_US:93297002 hp.json Thymus hypoplasia|Small thymus|Thymic hypoplasia http://purl.obolibrary.org/obo/HP_0000778 HP:0010103 biolink:PhenotypicFeature Short distal phalanx of hallux Underdevelopment (hypoplasia) of the distal phalanx of big toe. UMLS:C4021335 hp.json Small distal phalanx of big toe|Small outermost bone of big toe|Small distal phalanx of hallux|Hypoplastic/small distal phalanx of the hallux http://purl.obolibrary.org/obo/HP_0010103 HP:0000777 biolink:PhenotypicFeature Abnormality of the thymus Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. UMLS:C0262650|UMLS:C0685891|SNOMEDCT_US:93297002 hp.json Abnormality of the thymus http://purl.obolibrary.org/obo/HP_0000777 HP:0010102 biolink:PhenotypicFeature Aplasia of the distal phalanx of the hallux UMLS:C4024048 hp.json Absent outermost bone of big toe http://purl.obolibrary.org/obo/HP_0010102 HP:0010101 biolink:PhenotypicFeature Partial duplication of the phalanges of the hallux UMLS:C1855005 hp.json Partial duplication of big toe|partial duplication of hallux http://purl.obolibrary.org/obo/HP_0010101 HP:0010100 biolink:PhenotypicFeature Complete duplication of hallux phalanx Complete duplication of one or more phalanx of big toe. UMLS:C4021336 hp.json Complete duplication of the phalanges of the hallux|Complete duplication of big toe bones http://purl.obolibrary.org/obo/HP_0010100 HP:0000772 biolink:PhenotypicFeature Abnormal rib morphology An anomaly of the rib. UMLS:C1842083 hp.json Abnormality of the ribs|Rib anomalies|Rib abnormalities http://purl.obolibrary.org/obo/HP_0000772 hposlim_core CHEBI:17924 biolink:ChemicalSubstance D-glucitol The D-enantiomer of glucitol (also known as D-sorbitol). Drug_Central:2462|KNApSAcK:C00001173|CAS:50-70-4|PPDB:1320|PMID:23683321|PMID:16901854|HMDB:HMDB0000247|CAS:50-70-4|PMID:25568069|Reaxys:1721899|Beilstein:1721899|KEGG:D00096|Gmelin:83162|PMID:25108762|Wikipedia:Sorbitol|PMID:17979222|PMID:24643482|PMID:22735334|PMID:22878210|Beilstein:4656395|PMID:19695255|PMID:31537530|PMID:17336832|PDBeChem:SOR|CAS:50-70-4|KEGG:C00794|PMID:19443021|DrugBank:DB01638 hp.json D-Sorbit|E 420|D-glucitol|D-Sorbitol|G-ol|(-)-sorbitol|D-Glucitol|D-SORBITOL|D-sorbitol|E420|L-Gulitol|Glc-ol|(2R,3R,4R,5S)-hexane-1,2,3,4,5,6-hexol|D-(-)-sorbitol|E-420 http://purl.obolibrary.org/obo/CHEBI_17924 3_STAR HP:0010109 biolink:PhenotypicFeature Short hallux Underdevelopment (hypoplasia) of the big toe. UMLS:C1865992 hp.json Small hallux|Short big toe|Hypoplastic hallux|Short halluces|Hypoplastic big toes http://purl.obolibrary.org/obo/HP_0010109 HP:0000771 biolink:PhenotypicFeature Gynecomastia Abnormal development of large mammary glands in males resulting in breast enlargement. UMLS:C0018418|MSH:D006177|SNOMEDCT_US:4754008 hp.json Enlarged male breast|Gynaecomastia http://purl.obolibrary.org/obo/HP_0000771 hposlim_core HP:0009108 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the femoral head and neck UMLS:C4024594 hp.json Absent/underdeveloped head and neck of thighbone|Absent/small head and neck of thighbone http://purl.obolibrary.org/obo/HP_0009108 HP:0000774 biolink:PhenotypicFeature Narrow chest Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. UMLS:C0426790|SNOMEDCT_US:249671009 hp.json Reduced anterior-posterior chest diameter|Low chest circumference|Narrow shoulders|Narrow chest|Narrow thorax http://purl.obolibrary.org/obo/HP_0000774 HP:0010107 biolink:PhenotypicFeature Short proximal phalanx of hallux Underdevelopment (hypoplasia) of the proximal phalanx of big toe. UMLS:C1862159 hp.json Short proximal phalanx of halluces|Short proximal phalanges of halluces|Small proximal phalanx of hallux|Short innermost big toe bone|Hypoplastic proximal phalanx of the hallux|Small proximal phalanx of big toe http://purl.obolibrary.org/obo/HP_0010107 HP:0000773 biolink:PhenotypicFeature Short ribs Reduced rib length. UMLS:C0426817|SNOMEDCT_US:249696007 hp.json Rib hypoplasia|Hypoplastic ribs|Short ribs http://purl.obolibrary.org/obo/HP_0000773 HP:0009107 biolink:PhenotypicFeature Abnormal ossification involving the femoral head and neck UMLS:C4024595 hp.json Abnormal maturation of thigh bone head and neck http://purl.obolibrary.org/obo/HP_0009107 HP:0000776 biolink:PhenotypicFeature Congenital diaphragmatic hernia The presence of a hernia of the diaphragm present at birth. MSH:D065630|UMLS:C0235833|SNOMEDCT_US:17190001 hp.json Diaphragmatic hernia http://purl.obolibrary.org/obo/HP_0000776 HP:0010106 biolink:PhenotypicFeature Aplasia of the proximal phalanx of the hallux UMLS:C4024047 hp.json Absent innermost bone of big toe http://purl.obolibrary.org/obo/HP_0010106 HP:0010105 biolink:PhenotypicFeature Short first metatarsal Short first metatarsal bone. UMLS:C1841688 hp.json First metatarsal hypoplasia|Short 1st long bone of foot|First metatarsals hypoplastic http://purl.obolibrary.org/obo/HP_0010105 HP:0000775 biolink:PhenotypicFeature Abnormality of the diaphragm Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. UMLS:C1848873 hp.json Abnormality of the diaphragm|Diaphragmatic defect|Diaphragm issues http://purl.obolibrary.org/obo/HP_0000775 HP:0009109 biolink:PhenotypicFeature Denervation of the diaphragm Interruption of the innervation of the diaphragm. UMLS:C1858529 hp.json http://purl.obolibrary.org/obo/HP_0009109 HP:0012767 biolink:PhenotypicFeature Abnormal placental size A deviation from normal size of the placenta. UMLS:C4022732 hp.json http://purl.obolibrary.org/obo/HP_0012767 HP:0009104 biolink:PhenotypicFeature Aplasia/Hypoplasia of the pubic bone Absence or underdevelopment of the pubic bone. UMLS:C1849305 hp.json Absent/underdeveloped pubic bones|Absent/small pubic bones|Hypoplastic/aplastic pubic bones http://purl.obolibrary.org/obo/HP_0009104 HP:0009103 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the pelvis UMLS:C4024597 hp.json Absent/underdeveloped pelvis|Absent/small pelvis http://purl.obolibrary.org/obo/HP_0009103 HP:0012768 biolink:PhenotypicFeature Neonatal asphyxia Respiratory failure in the newborn. SNOMEDCT_US:28314004|UMLS:C0004045|SNOMEDCT_US:413654009|MSH:D001238 hp.json Asphyxia neonatorum http://purl.obolibrary.org/obo/HP_0012768 HP:0009106 biolink:PhenotypicFeature Abnormal pelvis bone ossification An abnormality of the formation and mineralization of any bone of the bony pelvis. UMLS:C4280402|UMLS:C4021525 hp.json Abnormal maturation of the pelvis bone|Abnormal ossification involving the bones of the pelvis http://purl.obolibrary.org/obo/HP_0009106 HP:0012769 biolink:PhenotypicFeature Abnormal arm span A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) UMLS:C4022731 hp.json Abnormal arm span http://purl.obolibrary.org/obo/HP_0012769 HP:0009105 biolink:PhenotypicFeature Abnormal ossification of the pubic bone Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis. UMLS:C4024596|UMLS:C4280403 hp.json Abnormal maturation of the pubic bone http://purl.obolibrary.org/obo/HP_0009105 HP:0009100 biolink:PhenotypicFeature Thick anterior alveolar ridges UMLS:C1859377 hp.json Thick anterior alveolar process of jaw http://purl.obolibrary.org/obo/HP_0009100 HP:0009102 biolink:PhenotypicFeature Anterior open-bite malocclusion Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. UMLS:C4024598 hp.json Anterior openbite|Anterior open bite|Apertognathia malocclusion|AOB|Absence of overlap of anterior upper and lower teeth|Gap between upper and lower front teeth when biting|Anterior open bite between upper and lower teeth http://purl.obolibrary.org/obo/HP_0009102 HP:0009101 biolink:PhenotypicFeature Submucous cleft lip A cleft of the lip with overlying mucous membrane. UMLS:C1839277 hp.json Submucous labial cleft http://purl.obolibrary.org/obo/HP_0009101 HP:0012750 biolink:PhenotypicFeature T2 hypointense brainstem A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem. UMLS:C4022746 hp.json http://purl.obolibrary.org/obo/HP_0012750 HP:0009120 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the sinuses Absence or underdevelopment of a cranial sinus or sinuses. UMLS:C4024587 hp.json http://purl.obolibrary.org/obo/HP_0009120 HP:0012751 biolink:PhenotypicFeature Abnormal basal ganglia MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. UMLS:C4022745 hp.json http://purl.obolibrary.org/obo/HP_0012751 HP:0012752 biolink:PhenotypicFeature Focal T2 hypointense basal ganglia lesion A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia. UMLS:C4022744 hp.json http://purl.obolibrary.org/obo/HP_0012752 HP:0012753 biolink:PhenotypicFeature T2 hypointense basal ganglia A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. UMLS:C4022743 hp.json http://purl.obolibrary.org/obo/HP_0012753 HP:0012754 biolink:PhenotypicFeature CNS hypermyelination Increased amount of myelin in the central nervous system. UMLS:C4022742 hp.json http://purl.obolibrary.org/obo/HP_0012754 HP:0012755 biolink:PhenotypicFeature Enlarged brainstem Abnormal increase in size of the brainstem. UMLS:C4022741 hp.json http://purl.obolibrary.org/obo/HP_0012755 HP:0000789 biolink:PhenotypicFeature Infertility UMLS:C0021359|SNOMEDCT_US:15296000|MSH:D007246|SNOMEDCT_US:8619003 hp.json Infertility http://purl.obolibrary.org/obo/HP_0000789 HP:0000782 biolink:PhenotypicFeature Abnormal scapula morphology Any abnormality of the scapula, also known as the shoulder blade. UMLS:C4025828 hp.json Abnormality of the shoulder blade http://purl.obolibrary.org/obo/HP_0000782 hposlim_core HP:0009119 biolink:PhenotypicFeature Aplasia/Hypoplasia of the frontal sinuses Absence or underdevelopment of frontal sinus. UMLS:C4024588 hp.json Abnormally small frontal sinus http://purl.obolibrary.org/obo/HP_0009119 HP:0009118 biolink:PhenotypicFeature Aplasia/Hypoplasia of the mandible Absence or underdevelopment of the mandible. UMLS:C4280401|UMLS:C3494426|UMLS:C4024589|UMLS:C4280261|MSH:D063173|UMLS:C4021371 hp.json http://purl.obolibrary.org/obo/HP_0009118 HP:0000787 biolink:PhenotypicFeature Nephrolithiasis The presence of calculi (stones) in the kidneys. MSH:D053040|UMLS:C0392525 hp.json Renal stones|Kidney stones|Renal calculi http://purl.obolibrary.org/obo/HP_0000787 HP:0000786 biolink:PhenotypicFeature Primary amenorrhea SNOMEDCT_US:8913004|UMLS:C0232939 hp.json http://purl.obolibrary.org/obo/HP_0000786 HP:0009115 biolink:PhenotypicFeature Aplasia/hypoplasia involving the skeleton Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. UMLS:C4024592 hp.json Absent/small skeleton|Absent/underdeveloped skeleton http://purl.obolibrary.org/obo/HP_0009115 HP:0012756 biolink:PhenotypicFeature CSF polymorphonuclear pleocytosis An increased polymorphonuclear cell count in the cerebrospinal fluid. UMLS:C4022740 hp.json http://purl.obolibrary.org/obo/HP_0012756 HP:0012757 biolink:PhenotypicFeature Abnormal neuron morphology A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. UMLS:C4022739 hp.json Abnormal neuronal morphology|Abnormal neuron shape http://purl.obolibrary.org/obo/HP_0012757 HP:0009117 biolink:PhenotypicFeature Aplasia/Hypoplasia of the maxilla Absence or underdevelopment of the maxilla. UMLS:C4024590 hp.json Underdevelopment of upper jaw bones|Underdevelopment of maxilla http://purl.obolibrary.org/obo/HP_0009117 HP:0012758 biolink:PhenotypicFeature Neurodevelopmental delay Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. UMLS:C4022738 hp.json NDD http://purl.obolibrary.org/obo/HP_0012758 HP:0009116 biolink:PhenotypicFeature Aplasia/Hypoplasia involving bones of the skull UMLS:C4024591 hp.json http://purl.obolibrary.org/obo/HP_0009116 HP:0012759 biolink:PhenotypicFeature Neurodevelopmental abnormality A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. UMLS:C4022737 hp.json http://purl.obolibrary.org/obo/HP_0012759 HP:0009110 biolink:PhenotypicFeature Diaphragmatic eventration A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. MSH:D003965|UMLS:C0011981|SNOMEDCT_US:34168003 hp.json Eventration of the diaphragm http://purl.obolibrary.org/obo/HP_0009110 HP:0009113 biolink:PhenotypicFeature Diaphragmatic weakness A decrease in the strength of the diaphragm. UMLS:C4020786|SNOMEDCT_US:95438009|UMLS:C0521532 hp.json Diaphragmatic paraparesis|Weak diaphragm|Diminished diaphragmatic motion http://purl.obolibrary.org/obo/HP_0009113 HP:0009112 biolink:PhenotypicFeature Aplasia of the left hemidiaphragm Congenital absence of the left half of the diaphragm. UMLS:C4024593 hp.json Left diaphragmatic hernia|Absent left hemidiaphragm http://purl.obolibrary.org/obo/HP_0009112 CL:0000402 biolink:Cell CNS interneuron hp.json http://purl.obolibrary.org/obo/CL_0000402 CL:0000404 biolink:Cell electrically signaling cell A cell that initiates an electrical signal and passes that signal to another cell. hp.json http://purl.obolibrary.org/obo/CL_0000404 CL:0000408 biolink:Cell male gamete BTO:0001277|CALOHA:TS-0949 hp.json http://purl.obolibrary.org/obo/CL_0000408 UBERON:0007135 biolink:AnatomicalEntity neural keel An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. TAO:0000131|EFO:0003497|ZFA:0000131 hp.json presumptive central nervous system http://purl.obolibrary.org/obo/UBERON_0007135 efo_slim UBERON:0007134 biolink:AnatomicalEntity trunk ganglion Ganglion which is located in the trunk. TAO:0001573|MIAA:0000344|EFO:0000901|ZFA:0001573|MAT:0000344 hp.json body ganglion|trunk ganglia http://purl.obolibrary.org/obo/UBERON_0007134 efo_slim CHEBI:15366 biolink:ChemicalSubstance acetic acid A simple monocarboxylic acid containing two carbons. KEGG:C00033|PMID:12005138|PMID:19416101|CAS:64-19-7|PDBeChem:ACT|CAS:64-19-7|PMID:15107950|KEGG:D00010|PMID:22173419|LIPID_MAPS_instance:LMFA01010002|HMDB:HMDB0000042|PMID:19469536|MetaCyc:ACET|Gmelin:1380|Beilstein:506007|PDBeChem:ACY|CAS:64-19-7|KNApSAcK:C00001176|PMID:16630552|Reaxys:506007|PMID:22153255|PPDB:1333|Wikipedia:Acetic_acid|PMID:16774200|PMID:17190852|Drug_Central:4211 hp.json INS No. 260|E260|acide acetique|CH3-COOH|E-260|Essigsaeure|acetic acid|Methanecarboxylic acid|E 260|Ethanoic acid|CH3CO2H|MeCOOH|Acetic acid|ethoic acid|Ethylic acid|AcOH|MeCO2H|ACETIC ACID|HOAc http://purl.obolibrary.org/obo/CHEBI_15366 3_STAR CHEBI:15361 biolink:ChemicalSubstance pyruvate A 2-oxo monocarboxylic acid anion that is the conjugate base of pyruvic acid, arising from deprotonation of the carboxy group. PMID:21823181|UM-BBD_compID:c0159|PMID:22215378|PMID:22458763|PMID:21603897|PMID:21854850|PMID:22451307|CAS:57-60-3|PMID:22006570|PMID:22016370|PMID:22311625|PMID:17190852|KEGG:C00022|Gmelin:2502|Reaxys:3587721|Beilstein:3587721 hp.json 2-oxopropanoate|2-oxopropanoic acid, ion(1-)|2-oxopropanoate|pyruvate http://purl.obolibrary.org/obo/CHEBI_15361 3_STAR CHEBI:27369 biolink:ChemicalSubstance zwitterion A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer). hp.json compose zwitterionique|zwitterions|zwitterionic compounds|zwitterion|zwitteriones|compuestos zwitterionicos http://purl.obolibrary.org/obo/CHEBI_27369 3_STAR CL:0000413 biolink:Cell haploid cell A cell whose nucleus contains a single haploid genome. hp.json http://purl.obolibrary.org/obo/CL_0000413 UBERON:0034762 biolink:AnatomicalEntity areolar sweat gland Any sweat gland that is part of an areola. FMA:62149 hp.json sweat gland of areola|areolar aprocine sweat gland http://purl.obolibrary.org/obo/UBERON_0034762 CL:0000417 biolink:Cell endopolyploid cell hp.json http://purl.obolibrary.org/obo/CL_0000417 UBERON:0034763 biolink:AnatomicalEntity hindbrain commissure Any commissure within the hindbrain. ZFA:0001692|TAO:0002199 hp.json http://purl.obolibrary.org/obo/UBERON_0034763 CHEBI:27363 biolink:ChemicalSubstance zinc atom CAS:7440-66-6|CAS:7440-66-6|WebElements:Zn|Gmelin:16321|KEGG:C00038|PDBeChem:ZN hp.json Zn|zinc|Zn2+|30Zn|Zink|Zn(II)|zincum|cinc|zinc http://purl.obolibrary.org/obo/CHEBI_27363 3_STAR UBERON:0034765 biolink:AnatomicalEntity glabella skin The zone of skin that overlaps with the glabella region. hp.json glabella http://purl.obolibrary.org/obo/UBERON_0034765 UBERON:0007125 biolink:AnatomicalEntity pharyngeal pouch 4 A pharyngeal pouch between pharyngeal arch 4 and arch 5 or 6 (a fifth arch never establishes in amniotes). TAO:0001134|FMA:295688|VHOG:0000578|RETIRED_EHDAA2:0000090|VHOG:0000971|EMAPA:16766|NCIT:C34181|EHDAA2:0000091|UMLS:C0231071|XAO:0000254|AAO:0011117|ZFA:0001134|EFO:0003637 hp.json 4th arch branchial pouch|4th arch branchial pouch endoderm|fourth arch pharyngeal pouch|fourth branchial pouch|4th branchial pouch|fourth pharyngeal pouch|4th pharyngeal pouch endoderm|fourth visceral pouch|pharyngeal pouches 4|visceral pouch 4 http://purl.obolibrary.org/obo/UBERON_0007125 pheno_slim|efo_slim|vertebrate_core UBERON:0007124 biolink:AnatomicalEntity pharyngeal pouch 3 A pharyngeal pouch that between pharyngeal arches 3 and 4. ZFA:0001131|NCIT:C34311|VHOG:0000966|EFO:0003634|Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch|EHDAA2:0000077|TAO:0001131|FMA:295682|UMLS:C0231070|EMAPA:16586|VHOG:0001030|RETIRED_EHDAA2:0000076|SCTID:345450001|AAO:0011116|XAO:0000251 hp.json 3rd pharyngeal pouch endoderm|third visceral pouch|3rd arch branchial pouch|third arch pharyngeal pouch|3rd branchial pouch|visceral pouch 3|third pharyngeal pouch|3rd arch branchial pouch endoderm|pharyngeal pouches 3 http://purl.obolibrary.org/obo/UBERON_0007124 pheno_slim|efo_slim|vertebrate_core UBERON:0007123 biolink:AnatomicalEntity pharyngeal pouch 2 A pharyngeal puch that is between the pharyngeal arches 2 and 3. NCIT:C34289|ZFA:0001130|FMA:295676|RETIRED_EHDAA2:0000060|EFO:0003633|TAO:0001130|UMLS:C0231069|SCTID:345349000|XAO:0000247|VHOG:0000561|EMAPA:16276|Wikipedia:Pharyngeal_pouch_(embryology)#Second_pouch|EMAPA:16275|VHOG:0000967|EHDAA2:0000058|AAO:0011115 hp.json pharyngeal pouches 2|visceral pouch 2|2nd pharyngeal pouch endoderm|2nd arch branchial pouch|2nd branchial pouch|2nd arch branchial pouch endoderm|second visceral pouch|second pharyngeal pouch|second arch pharyngeal pouch|2nd arch pouch endoderm http://purl.obolibrary.org/obo/UBERON_0007123 pheno_slim|efo_slim|vertebrate_core UBERON:0007122 biolink:AnatomicalEntity pharyngeal pouch 1 A pharyngeal pouch that is between pharyngeal arches 1 and 2. SCTID:345248006|AAO:0011114|NCIT:C34176|EFO:0003631|UMLS:C0231068|VHOG:0000555|VHOG:0000970|ZFA:0001128|Wikipedia:Pharyngeal_pouch_(embryology)#First_pouch|XAO:0000102|EMAPA:16125|EMAPA:16124|TAO:0001128|EHDAA2:0000016|FMA:295668 hp.json visceral pouch 1|1st arch branchial pouch|first visceral pouch|1st arch pouch endoderm|1st arch branchial pouch endoderm|hyomandibular pouch|pharyngeal pouches 1|1st branchial pouch|first arch pharyngeal pouch|1st pharyngeal pouch endoderm|first pharyngeal pouch http://purl.obolibrary.org/obo/UBERON_0007122 pheno_slim|efo_slim|vertebrate_core UBERON:0007120 biolink:AnatomicalEntity premolar tooth The premolar teeth or bicuspids are transitional teeth located between the canine and molar teeth. UMLS:C1704302|GAID:1261|NCIT:C32201|FMA:55637|MESH:D001641 hp.json secondary premolar tooth|bicuspid tooth|bicuspid teeth|premolar|biscuspid|mandibular bicuspid|dentes premolares|maxillary premolar|præmolares|praemolares|bicuspids|dentes premolares|bicuspid|premolar teeth|premolar tooth|maxillary bicuspid|pm3 (dentistry)|dens premolaris|premolars http://purl.obolibrary.org/obo/UBERON_0007120 pheno_slim CHEBI:15356 biolink:ChemicalSubstance cysteine A sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3. KNApSAcK:C00001351|KNApSAcK:C00007323|Gmelin:2933|PMID:17439666|Reaxys:1721406|Beilstein:1721406|PMID:25181601|CAS:3374-22-9|CAS:3374-22-9|KEGG:C00736|CAS:3374-22-9|Wikipedia:Cysteine hp.json Zystein|cysteine|Hcys|2-amino-3-sulfanylpropanoic acid|C|cysteine|Cystein|cisteina|Cysteine|2-amino-3-mercaptopropanoic acid|Cys|2-Amino-3-mercaptopropionic acid http://purl.obolibrary.org/obo/CHEBI_15356 3_STAR CL:0000412 biolink:Cell polyploid cell A cell whose nucleus, or nuclei, each contain more than two haploid genomes. hp.json http://purl.obolibrary.org/obo/CL_0000412 UBERON:0007128 biolink:AnatomicalEntity glomeral mesenchyme Portion of tissue that consists of the precursors of the pronephric glomus or glomerulus; derived from the medial portion of the pronephric intermediate mesoderm. XAO:0000110 hp.json glomerulus|corpuscle http://purl.obolibrary.org/obo/UBERON_0007128 CHEBI:29994 biolink:ChemicalSubstance D-aspartate(2-) An aspartate(2-) that is the conjugate base of D-aspartate(1-). Reaxys:14495011|Gmelin:327368 hp.json (2R)-2-aminobutanedioate|D-aspartate|(2R)-2-aminosuccinate|D-aspartate(2-)|D-aspartic acid dianion http://purl.obolibrary.org/obo/CHEBI_29994 3_STAR CHEBI:29993 biolink:ChemicalSubstance L-aspartate(2-) An aspartate(2-) that is the conjugate base of L-aspartate(1-). Gmelin:327367|Beilstein:4133557|Reaxys:4133557 hp.json L-aspartate(2-)|(2S)-2-aminobutanedioate|(2S)-2-aminosuccinate|L-aspartic acid dianion|L-aspartate http://purl.obolibrary.org/obo/CHEBI_29993 3_STAR CHEBI:29995 biolink:ChemicalSubstance aspartate(2-) A C4-dicarboxylate that is the dianion obtained by the deprotonation of both the carboxy groups of aspartic acid. hp.json aspartate(2-)|2-aminosuccinate|aspartic acid dianion|2-aminobutanedioate|aspartate http://purl.obolibrary.org/obo/CHEBI_29995 3_STAR CHEBI:29990 biolink:ChemicalSubstance D-aspartate(1-) An aspartate(1-) that is the conjugate base of D-aspartic acid. Beilstein:8316944|Reaxys:8316944 hp.json hydrogen D-aspartate|D-aspartate|D-aspartate(1-)|(2R)-2-ammoniobutanedioate|D-aspartic acid monoanion|(2R)-2-ammoniosuccinate http://purl.obolibrary.org/obo/CHEBI_29990 3_STAR UBERON:0010760 biolink:AnatomicalEntity supraglenoid tubercle The supraglenoid tubercle is a region of the scapula to which the long head of the biceps brachii muscle attaches. FMA:23263 hp.json supraglenoid tuberosity|tuberculum supraglenoidale http://purl.obolibrary.org/obo/UBERON_0010760 CHEBI:29991 biolink:ChemicalSubstance L-aspartate(1-) An aspartate(1-) that is the conjugate base of L-aspartic acid. Reaxys:15801578|Gmelin:327374 hp.json L-aspartate(1-)|L-aspartic acid monoanion|hydrogen L-aspartate|(2S)-2-ammoniobutanedioate|(2S)-2-ammoniosuccinate|L-aspartate|L-aspartate http://purl.obolibrary.org/obo/CHEBI_29991 3_STAR UBERON:0010755 biolink:AnatomicalEntity secondary follicle corona The part of the secondary follicle that surrounds the germinal center. NCIT:C33053|UMLS:C1512987 hp.json B cell corona|mantle zone|dark zone of follicle|inactive zone of follicle|peripheral zone of follicle http://purl.obolibrary.org/obo/UBERON_0010755 CHEBI:39317 biolink:ChemicalSubstance growth regulator Any chemical substance that inhibits the life-cycle of an organism. hp.json growth regulators http://purl.obolibrary.org/obo/CHEBI_39317 3_STAR UBERON:0034766 biolink:AnatomicalEntity glabella region A region of the forehead corresponding to the space between the eyebrows and above the nose. hp.json glabella http://purl.obolibrary.org/obo/UBERON_0034766 GO:1904100 biolink:BiologicalProcess positive regulation of protein O-linked glycosylation Any process that activates or increases the frequency, rate or extent of protein O-linked glycosylation. hp.json up regulation of protein amino acid O-linked glycosylation|upregulation of protein O-linked glycosylation|positive regulation of protein amino acid O-linked glycosylation|activation of protein amino acid O-linked glycosylation|upregulation of protein amino acid O-linked glycosylation|up regulation of protein O-linked glycosylation|up-regulation of protein O-linked glycosylation|activation of protein O-linked glycosylation|up-regulation of protein amino acid O-linked glycosylation http://purl.obolibrary.org/obo/GO_1904100 UBERON:0009778 biolink:AnatomicalEntity pleural sac A serous sac that has the pleura and the pleural cavity as parts. FMA:9690|SCTID:361996004|EHDAA2:0004737 hp.json http://purl.obolibrary.org/obo/UBERON_0009778 non_informative UBERON:0010753 biolink:AnatomicalEntity lymph node secondary follicle A secondary follicle that is located in a lymph node. MA:0000744|EMAPA:35531|FMA:312352 hp.json http://purl.obolibrary.org/obo/UBERON_0010753 human_reference_atlas|pheno_slim UBERON:0034768 biolink:AnatomicalEntity morphological feature A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. hp.json http://purl.obolibrary.org/obo/UBERON_0034768 UBERON:0010754 biolink:AnatomicalEntity germinal center A collection of activated B cells at the center of a secondary follicle, formed after B cells become activated and migrate to the center. EV:0100051|UMLS:C0282491|BTO:0003671|NCIT:C13337|MESH:D018858 hp.json light zone of follicle|nodule|lymhpoid nodule|central zone of follice|reaction center of follicle http://purl.obolibrary.org/obo/UBERON_0010754 UBERON:0034769 biolink:AnatomicalEntity lymphomyeloid tissue FMA:79770|NCIT:C41168 hp.json http://purl.obolibrary.org/obo/UBERON_0034769 UBERON:0010758 biolink:AnatomicalEntity subdivision of organism along appendicular axis A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. FBbt:00007018 hp.json appendicular segment|appendage segment http://purl.obolibrary.org/obo/UBERON_0010758 upper_level UBERON:0007119 biolink:AnatomicalEntity neck of femur The femur neck or neck of the femur is a flattened pyramidal process of bone, connecting the femoral head with the femoral shaft, and forming with the latter a wide angle opening medialward. NCIT:C61563|GAID:201|UMLS:C0015815|galen:NeckOfFemur|FMA:42385|MESH:D005272 hp.json femoral neck|collum femoris|neck of the femur|femur neck http://purl.obolibrary.org/obo/UBERON_0007119 pheno_slim UBERON:0007118 biolink:AnatomicalEntity umbilicus The pit in the center of the abdominal wall marking the point where the umbilical cord entered in the fetus. GAID:29|NCIT:C77533|FMA:61584|galen:Umbilicus|UMLS:C0041638|MESH:D014472 hp.json umbilical region|umbilical part of abdomen|navel http://purl.obolibrary.org/obo/UBERON_0007118 pheno_slim UBERON:0009773 biolink:AnatomicalEntity renal tubule A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. hp.json renal tubule (generic)|tubule of excretory system http://purl.obolibrary.org/obo/UBERON_0009773 pheno_slim|grouping_class UBERON:0007116 biolink:AnatomicalEntity primary dentition The set of teeth first in order or time of development that will be replaced by permanent dentition upon their loss. GAID:1252|MESH:D014094|FMA:75151 hp.json primary teeth|tooth of primary dentition|milk teeth|primary teeth|set of deciduous teeth|deciduous dentition|set of primary teeth|baby teeth|deciduous teeth|dentes decidui http://purl.obolibrary.org/obo/UBERON_0007116 pheno_slim UBERON:0007115 biolink:AnatomicalEntity deciduous tooth One of the first set of teeth in the growth development of humans and many other mammals[WP]. UMLS:C0040455|FMA:55655|GAID:1266|MESH:D014094|NCIT:C33745 hp.json primary tooth|temporary tooth|dentes decidui http://purl.obolibrary.org/obo/UBERON_0007115 pheno_slim UBERON:0010751 biolink:AnatomicalEntity squamous part of temporal bone primordium EHDAA:9536|EHDAA2:0001907 hp.json squamosal primordium|squamosal bone primordium http://purl.obolibrary.org/obo/UBERON_0010751 UBERON:0010744 biolink:AnatomicalEntity sacral vertebra pre-cartilage condensation A sacral vertebra endochondral element that is composed primarily of a pre-cartilage condensation. EMAPA:17677|EHDAA2:0001774 hp.json sacral vertebral pre-cartilage condensation group http://purl.obolibrary.org/obo/UBERON_0010744 UBERON:0010745 biolink:AnatomicalEntity sacral vertebra cartilage element A sacral vertebra endochondral element that is composed primarily of cartilage tissue. EHDAA2:0001773|EMAPA:18009 hp.json sacral vertebral cartilage condensation|sacral vertebral cartilage condensation group http://purl.obolibrary.org/obo/UBERON_0010745 UBERON:0009767 biolink:AnatomicalEntity proximal interphalangeal joint An inter-phalangeal joint that connects a proximal phalanx to either a medial or distal phalanx. NCIT:C101528|FMA:65022 hp.json PIJ joint|PIP joint http://purl.obolibrary.org/obo/UBERON_0009767 pheno_slim UBERON:0010742 biolink:AnatomicalEntity bone of pelvic complex A bone that is part of a pelvic complex. Examples: pubis, ischium, fot phalanx, any tarsal bone, any bone of the pelvic fin or girdle. EMAPA:32633|MA:0000660|EMAPA:35934 hp.json hindlimb bone http://purl.obolibrary.org/obo/UBERON_0010742 pheno_slim UBERON:0009768 biolink:AnatomicalEntity distal interphalangeal joint An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. FMA:65024|NCIT:C101529 hp.json DIJ joint|DIP joint http://purl.obolibrary.org/obo/UBERON_0009768 pheno_slim UBERON:0007100 biolink:AnatomicalEntity primary circulatory organ A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. SPD:0000130|TADS:0000147|http://www.sciencemag.org/content/313/5795/1922/F1.large.jpg hp.json heart|adult heart|dorsal tube|dorsal tube http://purl.obolibrary.org/obo/UBERON_0007100 grouping_class UBERON:0010743 biolink:AnatomicalEntity meningeal cluster The collection of all meningeal layers that line a central nervous system. UMLS:C0228116|EHDAA2:0004661|EMAPA:32660|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1465|FMA:231572|NCIT:C12349|Wikipedia:Meninges|SCTID:362879001 hp.json cluster of meninges|meninges|cerebral meninges http://purl.obolibrary.org/obo/UBERON_0010743 pheno_slim CHEBI:15379 biolink:ChemicalSubstance dioxygen CAS:7782-44-7|PDBeChem:OXY|HMDB:HMDB0001377|CAS:7782-44-7|Gmelin:485|CAS:7782-44-7|PMID:10906528|KEGG:C00007|Wikipedia:Oxygen|PMID:19840863|MolBase:750|PMID:9463773|PMID:7710549|MetaCyc:OXYGEN-MOLECULE|PMID:18638417|PMID:18210929|KEGG:D00003|PMID:16977326 hp.json E948|dioxygen|Oxygen|E-948|O2|O2|E 948|molecular oxygen|dioxygene|Disauerstoff|[OO]|O2|OXYGEN MOLECULE http://purl.obolibrary.org/obo/CHEBI_15379 3_STAR UBERON:0010748 biolink:AnatomicalEntity lymph node follicle A lymphoid follicle that is part of a lymph node. EMAPA:35527|MA:0000742 hp.json follicle of lymph node http://purl.obolibrary.org/obo/UBERON_0010748 UBERON:0010746 biolink:AnatomicalEntity iliac blade The extension of the ilium above the level of the acetabulum. Attachment site for both hindlimb and caudal musculature. Medially is the site of attachment of the sacral ribs, where these exist[PHENOSCAPE:ad]. FMA:42826 hp.json wing of ilium|a. ossis ilii|ala ossis ilii|ilium ala|wing of the ilium|ala of ilium http://purl.obolibrary.org/obo/UBERON_0010746 pheno_slim UBERON:0010747 biolink:AnatomicalEntity body of ilium The body of ilium enters into the formation of the acetabulum, of which it forms rather less than two-fifths. Its external surface is partly articular, partly non-articular; the articular segment forms part of the lunate surface of the acetabulum, the non-articular portion contributes to the acetabular fossa. The internal surface of the body is part of the wall of the lesser pelvis and gives origin to some fibers of the Obturator internus. Below, it is continuous with the pelvic surfaces of the ischium and pubis, only a faint line indicating the place of union. FMA:42825 hp.json ilium body|corpus ossis ilii http://purl.obolibrary.org/obo/UBERON_0010747 pheno_slim UBERON:0007106 biolink:AnatomicalEntity chorionic villus One of the minute vascular projections of the fetal chorion that combines with maternal uterine tissue to form the placenta. Wikipedia:Chorionic_villi|SCTID:360403003|BTO:0001161|NCIT:C34125|UMLS:C0008508|EHDAA2:0004717|MESH:D002824 hp.json placental villus|placental villous|chorionic villus|embryonic placenta|chorionic villi|embryonic part of placenta|villous chorion|fetal placenta|chorionic villous|villous of placenta|fetal part of placenta|placental villi http://purl.obolibrary.org/obo/UBERON_0007106 HP:0000719 biolink:PhenotypicFeature Inappropriate behavior UMLS:C0233522|SNOMEDCT_US:112082005 hp.json Inappropriate behavior|Inappropriate behaviour http://purl.obolibrary.org/obo/HP_0000719 CHEBI:27314 biolink:ChemicalSubstance water-soluble vitamin (role) Any vitamin that dissolves in water and readily absorbed into tissues for immediate use. Unlike the fat-soluble vitamins, they are not stored in the body and need to be replenished regularly in the diet and will rarely accumulate to toxic levels since they are quickly excreted from the body via urine. hp.json wasserloesliche Vitamine|water-soluble vitamin|water-soluble vitamins http://purl.obolibrary.org/obo/CHEBI_27314 3_STAR HP:0012700 biolink:PhenotypicFeature Abnormal large intestine physiology A functional anomaly of the large intestine. UMLS:C4022766 hp.json http://purl.obolibrary.org/obo/HP_0012700 HP:0000712 biolink:PhenotypicFeature Emotional lability Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. UMLS:C0085633|SNOMEDCT_US:18963009 hp.json Mood alterations|Mood lability|Mood swings|Emotional instability|Mood changes http://purl.obolibrary.org/obo/HP_0000712 UBERON:0007172 biolink:AnatomicalEntity angle of scapula FMA:23800|EMAPA:25125 hp.json scapular angle http://purl.obolibrary.org/obo/UBERON_0007172 HP:0000711 biolink:PhenotypicFeature Restlessness A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress. SNOMEDCT_US:162221009|UMLS:C3887611 hp.json Restlessness http://purl.obolibrary.org/obo/HP_0000711 UBERON:0007171 biolink:AnatomicalEntity border of scapula FMA:23797|EMAPA:25124 hp.json scapular border http://purl.obolibrary.org/obo/UBERON_0007171 CHEBI:27311 biolink:ChemicalSubstance volatile oil component Any plant metabolite that is found naturally as a component of a volatile oil. Wikipedia:Essential_oil hp.json essential oil component|ethereal oil components|ethereal oil component|volatile oil components|essential oil components http://purl.obolibrary.org/obo/CHEBI_27311 3_STAR HP:0000713 biolink:PhenotypicFeature Agitation A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. UMLS:C0085631|SNOMEDCT_US:24199005 hp.json http://purl.obolibrary.org/obo/HP_0000713 HP:0000716 biolink:PhenotypicFeature Depression Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior. SNOMEDCT_US:35489007|SNOMEDCT_US:21061000119107|SNOMEDCT_US:78667006|UMLS:C0011581|MSH:D003866 hp.json Depression|Depressive disorder|Depressivity http://purl.obolibrary.org/obo/HP_0000716 GO:1904115 biolink:CellularComponent axon cytoplasm Any cytoplasm that is part of a axon. hp.json axoplasm http://purl.obolibrary.org/obo/GO_1904115 HP:0000718 biolink:PhenotypicFeature Aggressive behavior Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. MSH:D000374|UMLS:C0424323|UMLS:C1457883|UMLS:C0001807|SNOMEDCT_US:248004009|SNOMEDCT_US:61372001 hp.json physical aggression|Aggression|Aggressive behaviour|Aggressive behavior|Aggressiveness http://purl.obolibrary.org/obo/HP_0000718 UBERON:0034710 biolink:AnatomicalEntity spinal cord ventricular layer EMAPA:17585|EHDAA2:0001267 hp.json spinal cord lateral wall ventricular layer http://purl.obolibrary.org/obo/UBERON_0034710 HP:0000717 biolink:PhenotypicFeature Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). UMLS:C0004352|SNOMEDCT_US:408857007|SNOMEDCT_US:408856003|SNOMEDCT_US:43614003|MSH:D001321 hp.json Autism http://purl.obolibrary.org/obo/HP_0000717 HP:0012709 biolink:PhenotypicFeature Abnormal brain choline/creatine ratio by MRS A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS). UMLS:C4022760 hp.json http://purl.obolibrary.org/obo/HP_0012709 UBERON:0007177 biolink:AnatomicalEntity lamina propria of mucosa of colon A lamina propria that is part of a colonic mucosa. EMAPA:27395|MA:0003196|FMA:15657|SCTID:113284008 hp.json colonic lamina propria|lamina propria of colonic mucosa|lamina propria mucosae of colon|lamina propria of colonic mucous membrane http://purl.obolibrary.org/obo/UBERON_0007177 human_reference_atlas UBERON:0007175 biolink:AnatomicalEntity inferior angle of scapula An angle of the scapula formed by the union of the vertebral and axillary borders; its dorsal surface affords attachment to the Teres major and frequently to a few fibers of the Latissimus dorsi.[WP,unvetted]. FMA:13315|EMAPA:25128 hp.json angulus inferior (scapula)|angulus inferior scapulae http://purl.obolibrary.org/obo/UBERON_0007175 UBERON:0034705 biolink:AnatomicalEntity developing neuroepithelium An embryonic or larval epithelium that is committed to form part of the nervous system. BTO:0000314|AEO:0001008|EHDAA2_RETIRED:0004654|FMA:64807 hp.json neuroepithelium|neurepithelium|embryonic neuroepithelium|embryonic neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 UBERON:0007174 biolink:AnatomicalEntity medial border of scapula The medial border of the scapula (vertebral border, medial margin) is the longest of the three borders, and extends from the medial to the inferior angle. It is arched, intermediate in thickness between the superior and the axillary borders, and the portion of it above the spine forms an obtuse angle with the part below. This border presents an anterior and a posterior lip, and an intermediate narrow area. The anterior lip affords attachment to the Serratus anterior; the posterior lip, to the Supraspinatus above the spine, the Infraspinatus below; the area between the two lips, to the Levator scapulC& above the triangular surface at the commencement of the spine, to the Rhomboideus minor on the edge of that surface, and to the Rhomboideus major below it; this last is attached by means of a fibrous arch, connected above to the lower part of the triangular surface at the base of the spine, and below to the lower part of the border. FMA:23242|EMAPA:25127 hp.json vertebral border of the scapula|medial part of scapula|medial border of the scapula|medial margin of the scapula|vertebral border of scapula|vertebral border|margo medialis scapulae|margo medialis (scapula) http://purl.obolibrary.org/obo/UBERON_0007174 HP:0000710 biolink:PhenotypicFeature Hyperorality A tendency or compulsion to examine objects by mouth. UMLS:C1838320 hp.json Hyperoralia http://purl.obolibrary.org/obo/HP_0000710 UBERON:0034706 biolink:AnatomicalEntity proliferating neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. AEO:0001009 hp.json http://purl.obolibrary.org/obo/UBERON_0034706 UBERON:0007173 biolink:AnatomicalEntity lateral border of scapula The lateral border (or axillary border, or margin) is the thickest of the three borders of the scapula. It begins above at the lower margin of the glenoid cavity, and inclines obliquely downward and backward to the inferior angle. Immediately below the glenoid cavity is a rough impression, the infraglenoid tuberosity, about 2.5 cm. in length, which gives origin to the long head of the Triceps brachii; in front of this is a longitudinal groove, which extends as far as the lower third of this border, and affords origin to part of the Subscapularis. The inferior third is thin and sharp, and serves for the attachment of a few fibers of the Teres major behind, and of the Subscapularis in front. FMA:23239|EMAPA:25126 hp.json lateral part of scapula|margo lateralis (scapula)|lateral border of scapula|axillary border of scapula|margo lateralis scapulae http://purl.obolibrary.org/obo/UBERON_0007173 UBERON:0034707 biolink:AnatomicalEntity differentiating neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. AEO:0001010 hp.json http://purl.obolibrary.org/obo/UBERON_0034707 HP:0012701 biolink:PhenotypicFeature Bowel urgency A sudden, irresistible need to have a bowel movement. UMLS:C0426636|SNOMEDCT_US:71820002 hp.json Fecal urgency|Faecal urgency http://purl.obolibrary.org/obo/HP_0012701 UBERON:0034708 biolink:AnatomicalEntity cerebellum marginal layer DHBA:12695|EHDAA2:0001152|EMAPA:17789 hp.json MZCB|marginal zone of cerebellum http://purl.obolibrary.org/obo/UBERON_0034708 HP:0012702 biolink:PhenotypicFeature Tenesmus A repeated, painful urge to defecate without excreting stool. UMLS:C0232726|SNOMEDCT_US:267053000|SNOMEDCT_US:6548007 hp.json http://purl.obolibrary.org/obo/HP_0012702 UBERON:0034709 biolink:AnatomicalEntity hindbrain marginal layer DHBA:12694|EMAPA:32916 hp.json marginal zone of hindbrain|MZH http://purl.obolibrary.org/obo/UBERON_0034709 HP:0012703 biolink:PhenotypicFeature Abnormal subarachnoid space morphology Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. UMLS:C4022765 hp.json Abnormality of the subarachnoid space http://purl.obolibrary.org/obo/HP_0012703 HP:0012704 biolink:PhenotypicFeature Widened subarachnoid space An increase in size of the anatomic space between the arachnoid membrane and pia mater. UMLS:C1846151 hp.json Enlarged subarachnoid space|Widened subarachnoid spaces http://purl.obolibrary.org/obo/HP_0012704 HP:0012705 biolink:PhenotypicFeature Abnormal metabolic brain imaging by MRS An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). UMLS:C4022764 hp.json http://purl.obolibrary.org/obo/HP_0012705 HP:0012706 biolink:PhenotypicFeature Elevated brain choline level by MRS An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). UMLS:C4022763 hp.json http://purl.obolibrary.org/obo/HP_0012706 HP:0012707 biolink:PhenotypicFeature Elevated brain lactate level by MRS An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). UMLS:C4022762 hp.json http://purl.obolibrary.org/obo/HP_0012707 HP:0012708 biolink:PhenotypicFeature Reduced brain N-acetyl aspartate level by MRS A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). UMLS:C4022761 hp.json Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy http://purl.obolibrary.org/obo/HP_0012708 CHEBI:29987 biolink:ChemicalSubstance glutamate(2-) A dicarboxylic acid dianion that is the conjugate base of glutamate(1-). Gmelin:327903|Beilstein:4134100|Reaxys:4134100 hp.json glutamic acid dianion|glutamate|2-aminopentanedioate|glutamate(2-) http://purl.obolibrary.org/obo/CHEBI_29987 3_STAR UBERON:0019143 biolink:AnatomicalEntity intramuscular adipose tissue Adipose tissue which is located throughout skeletal muscle and is responsible for the marbling seen in certain cuts of beef. In humans, excess accumulation of intramuscular fat is associated with insulin resistance and type 2 diabetes. BTO:0004043 hp.json intramuscular fat http://purl.obolibrary.org/obo/UBERON_0019143 CHEBI:29986 biolink:ChemicalSubstance D-glutamate(1-) An alpha-amino-acid anion that is the conjugate base of D-glutamic acid, having anionic carboxy groups and a cationic amino group Beilstein:8319427|MetaCyc:D-GLT hp.json hydrogen D-glutamate|D-glutamate|(2R)-2-ammoniopentanedioate|D-glutamate(1-)|D-glutamic acid monoanion http://purl.obolibrary.org/obo/CHEBI_29986 3_STAR CHEBI:27325 biolink:ChemicalSubstance xanthophyll hp.json http://purl.obolibrary.org/obo/CHEBI_27325 CHEBI:29989 biolink:ChemicalSubstance D-glutamate(2-) Beilstein:8143000|Gmelin:327904 hp.json D-glutamate|D-glutamate(2-)|D-glutamic acid dianion|(2R)-2-aminopentanedioate http://purl.obolibrary.org/obo/CHEBI_29989 3_STAR CHEBI:29988 biolink:ChemicalSubstance L-glutamate(2-) An L-alpha-amino acid anion that is the dianion obtained by the deprotonation of the both the carboxy groups of L-glutamic acid. Gmelin:327905 hp.json L-glutamic acid dianion|L-glutamate|(2S)-2-aminopentanedioate|L-glutamate(2-) http://purl.obolibrary.org/obo/CHEBI_29988 3_STAR HP:0000723 biolink:PhenotypicFeature Restrictive behavior Behavior characterized by an abnormal limitation to few interests and activities. UMLS:C4021799|UMLS:C2675334 hp.json Restricted behaviour|Restrictive behaviour|Restricted behavior|Restrictive behavior, interests, and activities http://purl.obolibrary.org/obo/HP_0000723 HP:0000722 biolink:PhenotypicFeature Obsessive-compulsive behavior Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). SNOMEDCT_US:12479006|UMLS:C0600104|MSH:D009771|MSH:D003192|SNOMEDCT_US:191736004|UMLS:C0028768 hp.json Obsessive compulsive disorder|Obsessive compulsive behaviour|OCD|Obsessive-compulsive behavior|Obsessive-compulsive behaviour|Obsessive compulsive behavior|Obsessive-compulsive disorder http://purl.obolibrary.org/obo/HP_0000722 PR:P16872 biolink:Protein interleukin-7 receptor subunit alpha (mouse) An interleukin-7 receptor subunit alpha that is encoded in the genome of mouse. UniProtKB:P16872 hp.json mIL7R|IL-7R subunit alpha (mouse)|IL-7R-alpha (mouse)|CD127 (mouse)|Il7r|IL-7 receptor subunit alpha (mouse)|IL-7RA (mouse) http://purl.obolibrary.org/obo/PR_P16872 UBERON:0007160 biolink:AnatomicalEntity inferior petrosal sinus The inferior petrosal sinus, within the human head, is an area beneath the brain, which allows blood veins to span the area, from the center of the head downward. It drains from the cavernous sinus (beneath the brain) to the sigmoid sinuses above the internal jugular vein. EMAPA:19234|FMA:50770 hp.json sinus petrosal inferior http://purl.obolibrary.org/obo/UBERON_0007160 human_reference_atlas CHEBI:29985 biolink:ChemicalSubstance L-glutamate(1-) An alpha-amino-acid anion that is the conjugate base of L-glutamic acid, having anionic carboxy groups and a cationic amino group Gmelin:936654|CAS:11070-68-1|MetaCyc:GLT hp.json (2S)-2-ammoniopentanedioate|hydrogen L-glutamate|L-glutamate|L-glutamate|L-glutamate(1-)|L-glutamic acid, ion(1-)|L-glutamic acid monoanion http://purl.obolibrary.org/obo/CHEBI_29985 3_STAR HP:0000725 biolink:PhenotypicFeature Psychotic episodes UMLS:C0338614 hp.json Psychotic episodes http://purl.obolibrary.org/obo/HP_0000725 HP:0000727 biolink:PhenotypicFeature Frontal lobe dementia SNOMEDCT_US:278857002|UMLS:C0338455 hp.json http://purl.obolibrary.org/obo/HP_0000727 HP:0000726 biolink:PhenotypicFeature Dementia A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. MSH:D003704|SNOMEDCT_US:52448006|UMLS:C0497327 hp.json Dementia, progressive|Progressive dementia|Dementia http://purl.obolibrary.org/obo/HP_0000726 HP:0000729 biolink:PhenotypicFeature Autistic behavior Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. MSH:D000067877|UMLS:C1510586|UMLS:C0856975 hp.json Pervasive developmental disorder|ASD|Autism spectrum disorder|Autistic behaviour|Autistic behaviors|Autistic behaviours|Autism spectrum disorders http://purl.obolibrary.org/obo/HP_0000729 UBERON:0034720 biolink:AnatomicalEntity head taste bud A taste bud that is located on the skin of the head. hp.json http://purl.obolibrary.org/obo/UBERON_0034720 UBERON:0034721 biolink:AnatomicalEntity pharyngeal taste bud A taste bud that is located in the pharynx. hp.json http://purl.obolibrary.org/obo/UBERON_0034721 HP:0000728 biolink:PhenotypicFeature Impaired ability to form peer relationships UMLS:C1837649 hp.json http://purl.obolibrary.org/obo/HP_0000728 UBERON:0034711 biolink:AnatomicalEntity cortical preplate The layer of the developing cerebral cortex that is formed from the first cohort of neurons to migrate out of the cortical ventricular zone; split by the second wave into marginal zone and subplate. EMAPA:35261 hp.json http://purl.obolibrary.org/obo/UBERON_0034711 UBERON:0034713 biolink:AnatomicalEntity cranial neuron projection bundle Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain. hp.json neuron projection bundle from brain|cranial nerve or tract|cranial nerve or tract|cranial nerve fiber bundle|cranial nerve fiber bundle|cranial nerve fiber tract|cranial nerve fiber tract|neuron projection bundle from brain http://purl.obolibrary.org/obo/UBERON_0034713 CHEBI:15318 biolink:ChemicalSubstance xanthine A purine nucleobase found in humans and other organisms. YMDB:YMDB00263|PMID:24629268|PMID:9007687|PMID:1557408|ECMDB:ECMDB00292|KNApSAcK:C00019660 hp.json 2,6-dioxopurine|2,6-dioxopurines|xanthines|xanthine http://purl.obolibrary.org/obo/CHEBI_15318 3_STAR UBERON:0034714 biolink:AnatomicalEntity epiphyseal tract A cranial nerve fiber tract that innervates the parietal eye. hp.json epiphyseal nerve http://purl.obolibrary.org/obo/UBERON_0034714 UBERON:0034715 biolink:AnatomicalEntity pineal tract A cranial nerve fiber tract that innervates the pineal body. FMA:77600 hp.json pineal nerve http://purl.obolibrary.org/obo/UBERON_0034715 UBERON:0034717 biolink:AnatomicalEntity integumental taste bud A taste bud that is located external to the digestive tube, on the head or body, as found in species such as goldfish. hp.json http://purl.obolibrary.org/obo/UBERON_0034717 HP:0000721 biolink:PhenotypicFeature Lack of spontaneous play UMLS:C1837650 hp.json Lack of spontaneous play http://purl.obolibrary.org/obo/HP_0000721 HP:0000720 biolink:PhenotypicFeature obsolete Mood swings hp.json http://purl.obolibrary.org/obo/HP_0000720 UBERON:0034719 biolink:AnatomicalEntity lip taste bud A taste bud that is located on a lip. hp.json http://purl.obolibrary.org/obo/UBERON_0034719 UBERON:0034730 biolink:AnatomicalEntity olfactory tract linking bulb to ipsilateral dorsal telencephalon ZFA:0000229|TAO:0000229 hp.json lateral olfactory tract|tractus olfactorius lateralis http://purl.obolibrary.org/obo/UBERON_0034730 GO:1904145 biolink:BiologicalProcess negative regulation of meiotic cell cycle process involved in oocyte maturation Any process that stops, prevents or reduces the frequency, rate or extent of meiotic cell cycle process involved in oocyte maturation. hp.json downregulation of meiotic cell cycle process involved in oocyte maturation|down regulation of meiotic cell cycle process involved in oocyte maturation|inhibition of meiotic cell cycle process involved in oocyte maturation|down-regulation of meiotic cell cycle process involved in oocyte maturation http://purl.obolibrary.org/obo/GO_1904145 UBERON:0034722 biolink:AnatomicalEntity mouth roof taste bud A taste bud that is located on the roof of the mouth. hp.json http://purl.obolibrary.org/obo/UBERON_0034722 UBERON:0007158 biolink:AnatomicalEntity lumen of anal canal An anatomical cavity that surrounded_by a anal canal. EMAPA:18836|FMA:17357 hp.json anal canal lumen http://purl.obolibrary.org/obo/UBERON_0007158 UBERON:0007156 biolink:AnatomicalEntity inferior thyroid vein The inferior thyroid veins two, frequently three or four, in number, arise in the venous plexus on the thyroid gland, communicating with the middle and superior thyroid veins. They form a plexus in front of the trachea, behind the Sternothyreoidei. From this plexus, a left vein descends and joins the left innominate trunk, and a right vein passes obliquely downward and to the right across the innominate artery to open into the right innominate vein, just at its junction with the superior vena cava; sometimes the right and left veins open by a common trunk in the latter situation. These veins receive esophageal tracheal, and inferior laryngeal veins, and are provided with valves at their terminations in the innominate veins. EMAPA:18763|FMA:4728 hp.json vena thyroidea inferioris|inferior thyroid venous tree http://purl.obolibrary.org/obo/UBERON_0007156 human_reference_atlas UBERON:0034724 biolink:AnatomicalEntity esophageal taste bud A taste bud that is located in the esophagus. hp.json http://purl.obolibrary.org/obo/UBERON_0034724 UBERON:0034726 biolink:AnatomicalEntity trunk taste bud A taste bud that is located on the skin of the trunk. hp.json http://purl.obolibrary.org/obo/UBERON_0034726 UBERON:0034728 biolink:AnatomicalEntity autonomic nerve The autonomic nerve is a small nerve which carries postganglionic sympathetic and parasympathetic neurons from the zygomaticotemporal nerve; a branch of the maxillary nerve, to the lacrimal nerve; a branch of the ophthalmic nerve. These neurons derive from the superior cervical ganglion and the pterygopalatine ganglion respectively. They will travel to the lacrimal gland via the lacrimal nerve. Parasympathetic will induce lacrimation and vice versa. MESH:D017776|SCTID:276145003|FMA:5866|Wikipedia:Autonomic_nerve|EMAPA:37957 hp.json nervus visceralis|visceral nerve http://purl.obolibrary.org/obo/UBERON_0034728 UBERON:0007151 biolink:AnatomicalEntity mitral valve leaflet A valve leafleft that is part of a mitral valve. FMA:7241|VHOG:0000822|EMAPA:18628 hp.json mitral valvular leaflet|mitral valve leaflet|leaflet of mitral valve|mitral valve leaflets http://purl.obolibrary.org/obo/UBERON_0007151 pheno_slim UBERON:0034729 biolink:AnatomicalEntity sympathetic nerve SCTID:181098007|EMAPA:37958 hp.json http://purl.obolibrary.org/obo/UBERON_0034729 human_reference_atlas UBERON:0007159 biolink:AnatomicalEntity lumen of colon An anatomical cavity that surrounded_by a colon. SCTID:362156004|EMAPA:18945|FMA:18374 hp.json colon lumen|colonic lumen http://purl.obolibrary.org/obo/UBERON_0007159 HP:0000709 biolink:PhenotypicFeature Psychosis A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. UMLS:C0033975|MSH:D011618|SNOMEDCT_US:69322001 hp.json Psychosis http://purl.obolibrary.org/obo/HP_0000709 HP:0000708 biolink:PhenotypicFeature Behavioral abnormality An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. UMLS:C0233514|UMLS:C0004941|SNOMEDCT_US:25786006|MSH:D000066553|SNOMEDCT_US:277843001|MSH:D001526 hp.json Psychiatric disturbances|Behavioural/Psychiatric abnormality|Behavioural abnormality|Behavioral symptoms|Behavioural disturbances|Behavioural symptoms|Behavioral disturbances|Behavioural problems|Behavioral problems|Behavioural changes|Behavioural disorders|Behavioral abnormality|Behavioral disorders|Behavioral changes|Psychiatric disorders|Behavioral/psychiatric abnormalities http://purl.obolibrary.org/obo/HP_0000708 HP:0000700 biolink:PhenotypicFeature Periapical bone loss Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). UMLS:C0034543|UMLS:C1852169|SNOMEDCT_US:81407003|MSH:D011842|UMLS:C4280609|UMLS:C0031029|SNOMEDCT_US:89988002|MSH:D010484 hp.json Periapical cyst|Periapical radiolucency|Periapical granuloma|Periapical lesion|Periapical radiolucencies|Dark spot around tooth root on x-ray|Bone loss around tooth root http://purl.obolibrary.org/obo/HP_0000700 HP:0000703 biolink:PhenotypicFeature Dentinogenesis imperfecta Developmental dysplasia of dentin. MSH:D003811|UMLS:C0011436|SNOMEDCT_US:196286005 hp.json http://purl.obolibrary.org/obo/HP_0000703 hposlim_core CHEBI:27300 biolink:ChemicalSubstance vitamin D Any member of a group of fat-soluble hydroxy seco-steroids that exhibit biological activity against vitamin D deficiency. Vitamin D can be obtained from sun exposure, food and supplements and is biologically inactive and converted into the biologically active calcitriol via double hydroxylation in the body. MetaCyc:Vitamin-D|Wikipedia:Vitamin_D hp.json D vitamins|vitamin Ds|vitamins D|vitamin D vitamers|vitamin D vitamer http://purl.obolibrary.org/obo/CHEBI_27300 3_STAR HP:0000705 biolink:PhenotypicFeature Amelogenesis imperfecta A developmental dysplasia of the dental enamel. SNOMEDCT_US:78494001|UMLS:C0002452|MSH:D000567 hp.json http://purl.obolibrary.org/obo/HP_0000705 hposlim_core HP:0000704 biolink:PhenotypicFeature Periodontitis Inflammation of the periodontium. UMLS:C0031099|MSH:D005882|MSH:D010518|SNOMEDCT_US:41565005|UMLS:C0017563|SNOMEDCT_US:18718003|UMLS:C0031090|MSH:D010510|SNOMEDCT_US:2556008 hp.json Pyorrhea|Gum disease|Periodontal disease http://purl.obolibrary.org/obo/HP_0000704 hposlim_core HP:0000707 biolink:PhenotypicFeature Abnormality of the nervous system An abnormality of the nervous system. UMLS:C0497552|MSH:D009421|SNOMEDCT_US:88425004 hp.json Neurologic abnormalities|Neurological abnormality|Brain and/or spinal cord issue|Abnormality of the nervous system http://purl.obolibrary.org/obo/HP_0000707 GO:1904146 biolink:BiologicalProcess positive regulation of meiotic cell cycle process involved in oocyte maturation Any process that activates or increases the frequency, rate or extent of meiotic cell cycle process involved in oocyte maturation. hp.json up regulation of meiotic cell cycle process involved in oocyte maturation|up-regulation of meiotic cell cycle process involved in oocyte maturation|activation of meiotic cell cycle process involved in oocyte maturation|upregulation of meiotic cell cycle process involved in oocyte maturation http://purl.obolibrary.org/obo/GO_1904146 HP:0000706 biolink:PhenotypicFeature Eruption failure A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. SNOMEDCT_US:109542004|UMLS:C1290587 hp.json Pseudoanodontia|Pseudo-anodontia|Failure of eruption of tooth|Unerupted dentition|Unerupted tooth http://purl.obolibrary.org/obo/HP_0000706 UBERON:0007147 biolink:AnatomicalEntity lumen of midgut An anatomical cavity that surrounded_by a midgut. FMA:54366|EMAPA:18377 hp.json midgut lumen http://purl.obolibrary.org/obo/UBERON_0007147 CHEBI:15339 biolink:ChemicalSubstance acceptor A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. KEGG:C00028|KEGG:C16722 hp.json Hydrogen-acceptor|Akzeptor|accepteur|A|Acceptor|Oxidized donor http://purl.obolibrary.org/obo/CHEBI_15339 3_STAR UBERON:0007144 biolink:AnatomicalEntity embryonic post-anal tail An embryonic structure that will either develop into a post-anal tail or recede into a vestigial remnant of the tail. EMAPA:16748|FMA:85540 hp.json tail of embryo|embryo tail|embryonic tail http://purl.obolibrary.org/obo/UBERON_0007144 UBERON:0034736 biolink:AnatomicalEntity coracoclavicular ligament Any ligament that connects the coracoid process with the clavicle. FMA:26029 hp.json accessory ligament of acromioclavicular joint http://purl.obolibrary.org/obo/UBERON_0034736 UBERON:0007143 biolink:AnatomicalEntity right internal carotid artery An internal carotid artery that branching_part_of a right common carotid artery plus branches. SCTID:161251001|FMA:3949|EMAPA:16330 hp.json arteria carotis interna dextra http://purl.obolibrary.org/obo/UBERON_0007143 UBERON:0007142 biolink:AnatomicalEntity left internal carotid artery An internal carotid artery that branching_part_of a left common carotid artery plus branches. EMAPA:16329|FMA:4062|SCTID:161452006 hp.json arteria caritis interna sinistra http://purl.obolibrary.org/obo/UBERON_0007142 CHEBI:17996 biolink:ChemicalSubstance chloride A halide anion formed when chlorine picks up an electron to form an an anion. Beilstein:3587171|PDBeChem:CL|CAS:16887-00-6|Gmelin:14910|CAS:16887-00-6|UM-BBD_compID:c0884|CAS:16887-00-6|KEGG:C00115|KEGG:C00698 hp.json Cl(-)|Chloride|CHLORIDE ION|Cl-|Chloride(1-)|Chlorine anion|chloride(1-)|chloride|chloride|Chloride ion http://purl.obolibrary.org/obo/CHEBI_17996 3_STAR UBERON:0007148 biolink:AnatomicalEntity lumen of hindgut An anatomical cavity that surrounded_by a hindgut. FMA:54367|EMAPA:18396 hp.json hindgut lumen http://purl.obolibrary.org/obo/UBERON_0007148 HP:0034096 biolink:PhenotypicFeature Anti-phosphatidic acid antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid. hp.json http://purl.obolibrary.org/obo/HP_0034096 HP:0034095 biolink:PhenotypicFeature Anti-endothelin-1 type A receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor. hp.json Anti-ETAR antibody positivity http://purl.obolibrary.org/obo/HP_0034095 HP:0034098 biolink:PhenotypicFeature Anti-phosphatidyl glycerol antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol. hp.json http://purl.obolibrary.org/obo/HP_0034098 HP:0034097 biolink:PhenotypicFeature Anti-phosphatidyl choline antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline. hp.json http://purl.obolibrary.org/obo/HP_0034097 HP:0034092 biolink:PhenotypicFeature Anti-cyclic citrullinated peptide antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide. hp.json Anti-CCP antibody positivity http://purl.obolibrary.org/obo/HP_0034092 HP:0034091 biolink:PhenotypicFeature Anti-platelet derived growth factor receptor The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor. hp.json Anti-PDGFR antibody positivity http://purl.obolibrary.org/obo/HP_0034091 HP:0034094 biolink:PhenotypicFeature Anti-angiotensin receptor type-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1. hp.json Anti-AT1R antibody positivity http://purl.obolibrary.org/obo/HP_0034094 HP:0034093 biolink:PhenotypicFeature Anti-Ro52/TRIM21 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21. hp.json Anti-Ro52 antibody positivity http://purl.obolibrary.org/obo/HP_0034093 HP:0034099 biolink:PhenotypicFeature Anti-phosphatidyl inositol antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol. hp.json http://purl.obolibrary.org/obo/HP_0034099 CL:0000488 biolink:Cell visible light photoreceptor cell A photoreceptor cell that detects visible light. hp.json http://purl.obolibrary.org/obo/CL_0000488 CL:0000498 biolink:Cell inhibitory interneuron An interneuron (also called relay neuron, association neuron or local circuit neuron) is a multipolar neuron which connects afferent neurons and efferent neurons in neural pathways. Like motor neurons, interneuron cell bodies are always located in the central nervous system (CNS). FMA:84776 hp.json http://purl.obolibrary.org/obo/CL_0000498 UBERON:0010801 biolink:AnatomicalEntity calcaneum pre-cartilage condensation A calcaneum endochondral element that is composed primarily of a pre-cartilage condensation. EMAPA:17736 hp.json calcaneous pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010801 CL:0000499 biolink:Cell stromal cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. BTO:0002064|FMA:83624 hp.json http://purl.obolibrary.org/obo/CL_0000499 CL:0000492 biolink:Cell CD4-positive helper T cell A CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions. CALOHA:TS-1146|FMA:70572 hp.json CD4-positive helper T-cell|CD4-positive helper T lymphocyte|CD4-positive T-helper cell|CD4-positive helper T-lymphocyte http://purl.obolibrary.org/obo/CL_0000492 CL:0000467 biolink:Cell adrenocorticotropic hormone secreting cell A peptide hormone secreting cell that produces adrenocorticotropin, or corticotropin. hp.json ACTH secreting cell|adrenocorticotrophic hormone secreting cell|corticotropin secreting cell|corticotrophin hormone secreting cell|corticotropin hormone secreting cell http://purl.obolibrary.org/obo/CL_0000467 CHEBI:52254 biolink:ChemicalSubstance apatite hp.json http://purl.obolibrary.org/obo/CHEBI_52254 CHEBI:52255 biolink:ChemicalSubstance hydroxylapatite hp.json http://purl.obolibrary.org/obo/CHEBI_52255 HP:0010096 biolink:PhenotypicFeature Complete duplication of the distal phalanx of the hallux UMLS:C4024051 hp.json Complete duplication of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010096 HP:0010095 biolink:PhenotypicFeature Partial duplication of the proximal phalanx of the hallux Partial duplication of the proximal phalanx of big toe. UMLS:C4024052 hp.json Partial duplication of the innermost bone of big toe http://purl.obolibrary.org/obo/HP_0010095 HP:0010094 biolink:PhenotypicFeature Complete duplication of the proximal phalanx of the hallux Complete duplication of the proximal phalanx of big toe. UMLS:C4024053 hp.json Complete duplication of the innermost bone of big toe http://purl.obolibrary.org/obo/HP_0010094 HP:0010093 biolink:PhenotypicFeature Duplication of the proximal phalanx of the hallux Partial or complete duplication of the proximal phalanx of big toe. UMLS:C4024054 hp.json Duplication of the innermost bone of big toe http://purl.obolibrary.org/obo/HP_0010093 HP:0010092 biolink:PhenotypicFeature Triangular shaped proximal phalanx of the hallux UMLS:C4024055 hp.json Triangular shaped innermost bone of big toe http://purl.obolibrary.org/obo/HP_0010092 HP:0010091 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanx of the hallux UMLS:C4024056 hp.json Fused innermost bone of big toe http://purl.obolibrary.org/obo/HP_0010091 HP:0010090 biolink:PhenotypicFeature Patchy sclerosis of the proximal phalanx of the hallux UMLS:C4024057 hp.json Uneven increase in bone density in the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010090 HP:0010099 biolink:PhenotypicFeature Partial duplication of the 1st metatarsal A developmental defect consisting in the duplication of part of the first metatarsal bone. UMLS:C4024049 hp.json Partial duplication of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010099 HP:0010098 biolink:PhenotypicFeature Complete duplication of the 1st metatarsal A developmental defect consisting in the complete duplication of the first metatarsal bone. UMLS:C4024050 hp.json Complete duplication of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010098 HP:0010097 biolink:PhenotypicFeature Partial duplication of the distal phalanx of the hallux UMLS:C4021337 hp.json Partial duplication of the outermost bone of big toe|Notched outermost bone of big toe|Bifid distal phalanx of hallux http://purl.obolibrary.org/obo/HP_0010097 CL:0000473 biolink:Cell defensive cell A cell whose primary function is to protect the organism. hp.json http://purl.obolibrary.org/obo/CL_0000473 HP:0034052 biolink:PhenotypicFeature Impaired toe-walking ability Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes. hp.json http://purl.obolibrary.org/obo/HP_0034052 HP:0034051 biolink:PhenotypicFeature Hypoplastic anterior limbs of the internal capsule Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule. hp.json http://purl.obolibrary.org/obo/HP_0034051 HP:0034054 biolink:PhenotypicFeature Probst bundles Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles. hp.json http://purl.obolibrary.org/obo/HP_0034054 HP:0034053 biolink:PhenotypicFeature Decreased acid ceramidase activity hp.json http://purl.obolibrary.org/obo/HP_0034053 HP:0034050 biolink:PhenotypicFeature Elevated urinary prostaglandin E2 metabolite level An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine. hp.json http://purl.obolibrary.org/obo/HP_0034050 CL:0000446 biolink:Cell chief cell of parathyroid gland An epithelial cell of the parathyroid gland that is arranged in wide, irregular interconnecting columns; responsible for the synthesis and secretion of parathyroid hormone. FMA:69078|CALOHA:TS-2140|BTO:0004712 hp.json principal cell of parathyroid gland|parathyroid chief cell|parathyroid hormone secreting cell|parathyroid gland chief cell http://purl.obolibrary.org/obo/CL_0000446 CL:0000447 biolink:Cell carbohydrate secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000447 HP:0034059 biolink:PhenotypicFeature Abnormal fetal physiology Any functional anomaly of the fetus. hp.json Functional fetal anomaly http://purl.obolibrary.org/obo/HP_0034059 HP:0034056 biolink:PhenotypicFeature Increased fecal calprotectin level An increased amount of calprotectin in the feces. hp.json http://purl.obolibrary.org/obo/HP_0034056 HP:0034055 biolink:PhenotypicFeature Anti-side-chain cleavage enzyme antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583). hp.json Anti-P450scc http://purl.obolibrary.org/obo/HP_0034055 HP:0034058 biolink:PhenotypicFeature Abnormal fetal morphology Any structural anomaly of the fetus. hp.json Structural fetal anomaly http://purl.obolibrary.org/obo/HP_0034058 HP:0034057 biolink:PhenotypicFeature Fetal anomaly Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. hp.json http://purl.obolibrary.org/obo/HP_0034057 UBERON:0007213 biolink:AnatomicalEntity mesenchyme derived from head neural crest Mesenchyme that develops_from a cranial neural crest. EHDAA2:0000735|EMAPA:16169|TAO:0000787|EMAPA:16271|EMAPA_RETIRED:16271|EFO:0003572|ZFA:0000787 hp.json head mesenchyme from cranial neural crest|head mesenchyme from neural crest|head neural crest derived mesenchyme http://purl.obolibrary.org/obo/UBERON_0007213 vertebrate_core|efo_slim UBERON:0009877 biolink:AnatomicalEntity metapodium region Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region. hp.json equine cannon region|metapodium|metacarpus/metatarsus|cannon region|metacarpal or metatarsal part of limb|metapodial segment|metacarpus/metatarsus region http://purl.obolibrary.org/obo/UBERON_0009877 CL:0000440 biolink:Cell melanocyte stimulating hormone secreting cell A cell of the intermediate pituitary that produces melanocyte stimulating hormone. BTO:0002277 hp.json melanotroph|melanotrope http://purl.obolibrary.org/obo/CL_0000440 UBERON:0010852 biolink:AnatomicalEntity fibula pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a fibula. EHDAA2:0000509|EHDAA:6196 hp.json fibulal pre-cartilage condensation|fibular pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010852 UBERON:0009878 biolink:AnatomicalEntity mesopodial skeleton The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton. VSAO:0005022 hp.json mesopodial skeleton|carpal/tarsal skeleton|skeletal parts of mesopodium|basipodium skeleton|basipodium|mesopodium|mesopodium skeleton http://purl.obolibrary.org/obo/UBERON_0009878 UBERON:0009879 biolink:AnatomicalEntity tarsal skeleton Subdivision of skeleton that consists of endochondral elements distal to the zeugopodial skeletal elements which constitute the proximal region of the posterior autopod skeleton[PHENOSCAPE:ad]. FMA:71339|VSAO:0005024|XAO:0003211|VHOG:0001160|EMAPA:19133|GAID:1223|AAO:0000220|MA:0000050 hp.json hind mesopodial skeleton|basipodium|mesopodium|tarsus|tarsal bones set|hind mesopodium|tarsalia|skeletal parts of hind mesopodium|set of tarsal bones|hind mesopodium skeleton|tarsal bones http://purl.obolibrary.org/obo/UBERON_0009879 pheno_slim CHEBI:76283 biolink:ChemicalSubstance sebacate(2-) A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of suberic acid; major species at pH 7.3. MetaCyc:CPD-3623|PMID:21886157|Reaxys:3906061 hp.json C10-DCA(2-)|decanedioate(2-)|decanedioate|sebacate|decanedioate http://purl.obolibrary.org/obo/CHEBI_76283 3_STAR CL:0000443 biolink:Cell calcitonin secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000443 UBERON:0009870 biolink:AnatomicalEntity zone of stomach A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. MA:0002561|SCTID:245415005|EMAPA:35821|FMA:14558|Wikipedia:Stomach#Sections hp.json region of stomach|section of stomach|gastric zone http://purl.obolibrary.org/obo/UBERON_0009870 UBERON:0009871 biolink:AnatomicalEntity nephrogenic zone Outer portion of the renal cortex. Site of formation of medullary and cortical elements. EMAPA:27721|MA:0002996 hp.json cortical nephrogenic zone|cortical nephrogenic niche|nephrogenic tissue http://purl.obolibrary.org/obo/UBERON_0009871 pheno_slim UBERON:0007214 biolink:AnatomicalEntity mesenchyme derived from trunk neural crest Mesenchyme that develops_from a trunk neural crest. EHDAA2:0002093|EMAPA:16182|ZFA:0000999|TAO:0000999 hp.json trunk neural crest derived mesenchyme|trunk mesenchyme from neural crest http://purl.obolibrary.org/obo/UBERON_0007214 vertebrate_core HP:0034063 biolink:PhenotypicFeature Anti-islet antigen-2 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2. hp.json Anti-IA2A|Anti-IA2 antibody positivity|ICA512 http://purl.obolibrary.org/obo/HP_0034063 HP:0034062 biolink:PhenotypicFeature Anti-insulin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against insulin. hp.json Insulin autoantibodies|IAA positivity http://purl.obolibrary.org/obo/HP_0034062 HP:0034065 biolink:PhenotypicFeature Anti-Zinc transporter 8 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8. hp.json Anti ZnT8 autoantibodies http://purl.obolibrary.org/obo/HP_0034065 HP:0034064 biolink:PhenotypicFeature Anti-salivary protein antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein. hp.json Anti-SP1 antibody positivity http://purl.obolibrary.org/obo/HP_0034064 HP:0034061 biolink:PhenotypicFeature Anti-steroid 17alpha-hydroxylase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase. hp.json Anti-P450C17 http://purl.obolibrary.org/obo/HP_0034061 HP:0034060 biolink:PhenotypicFeature Triggered by fava bean ingestion Applies to a sign or symptom that is provoked or brought about by eating fava beans. hp.json http://purl.obolibrary.org/obo/HP_0034060 CL:0000457 biolink:Cell biogenic amine secreting cell hp.json http://purl.obolibrary.org/obo/CL_0000457 CL:0000458 biolink:Cell serotonin secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). hp.json 5-Hydroxytryptamine secreting cell|5-HT secreting cell http://purl.obolibrary.org/obo/CL_0000458 CL:0000459 biolink:Cell noradrenergic cell A cell capable of producting norepiniphrine. Norepiniphrine is a catecholamine with multiple roles including as a hormone and a neurotransmitter. In addition, epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme. hp.json noradrenaline secreting cell|norepinephrine secreting cell|norepinephrin secreting cell http://purl.obolibrary.org/obo/CL_0000459 HP:0034067 biolink:PhenotypicFeature Tonofilament clumping Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes. hp.json Clumping of the keratin tonofilaments http://purl.obolibrary.org/obo/HP_0034067 UBERON:0010850 biolink:AnatomicalEntity tibia pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a tibia. EHDAA2:0002036 hp.json http://purl.obolibrary.org/obo/UBERON_0010850 HP:0034066 biolink:PhenotypicFeature Anti-carbonic anhydrase VI antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI. hp.json Anti-CA6 antibody positivity http://purl.obolibrary.org/obo/HP_0034066 UBERON:0010851 biolink:AnatomicalEntity fibula cartilage element A cartilaginous condensation that has the potential to develop into a fibula. EMAPA:18154 hp.json fibulal cartilage condensation|fibular cartilage condensation|fibulra cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010851 HP:0034069 biolink:PhenotypicFeature Anti-parotid secretory protein antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein. hp.json Anti-PSP antibody positivity http://purl.obolibrary.org/obo/HP_0034069 HP:0034068 biolink:PhenotypicFeature Anti-plasminogen binding peptide antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide. hp.json Anti-PBP antibody positivity http://purl.obolibrary.org/obo/HP_0034068 UBERON:0010843 biolink:AnatomicalEntity clavicle cartilage element A cartilaginous condensation that has the potential to develop into a clavicle. EMAPA:18342 hp.json http://purl.obolibrary.org/obo/UBERON_0010843 UBERON:0010844 biolink:AnatomicalEntity clavicle pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a clavicle. EMAPA:18026 hp.json http://purl.obolibrary.org/obo/UBERON_0010844 CL:0000451 biolink:Cell dendritic cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). CALOHA:TS-0194|FMA:83036|BTO:0002042 hp.json interdigitating cell|veiled cell http://purl.obolibrary.org/obo/CL_0000451 UBERON:0010842 biolink:AnatomicalEntity calcaneum cartilage element A calcaneum endochondral element that is composed primarily of cartilage tissue. EMAPA:18143 hp.json calcaneous cartilage element http://purl.obolibrary.org/obo/UBERON_0010842 CL:0000453 biolink:Cell Langerhans cell Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus. FMA:63072|CALOHA:TS-2375|BTO:0000705 hp.json LC|Langerhans' cell http://purl.obolibrary.org/obo/CL_0000453 UBERON:0010847 biolink:AnatomicalEntity ulna pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a ulna. EHDAA:6226|EHDAA2:0002100 hp.json http://purl.obolibrary.org/obo/UBERON_0010847 CL:0000454 biolink:Cell epinephrine secreting cell A cell capable of producing epinephrine. Epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme, which is expressed in the adrenal glands, androgenic neurons, and in other cell types. hp.json epinephrin secreting cell|adrenaline secreting cell http://purl.obolibrary.org/obo/CL_0000454 UBERON:0010848 biolink:AnatomicalEntity radius-ulna cartilage element A radius-ulna endochondral element that is composed primarily of cartilage tissue. EMAPA:17711 hp.json radio-ulna cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010848 UBERON:0010846 biolink:AnatomicalEntity radius pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a radius bone. EHDAA2:0001586 hp.json http://purl.obolibrary.org/obo/UBERON_0010846 UBERON:0010849 biolink:AnatomicalEntity tibia cartilage element A cartilaginous condensation that has the potential to develop into a tibia. EMAPA:18155 hp.json http://purl.obolibrary.org/obo/UBERON_0010849 UBERON:0007204 biolink:AnatomicalEntity brachiocephalic vasculature The vasculature consisting of brachiocephalic arteries and veins. hp.json http://purl.obolibrary.org/obo/UBERON_0007204 HP:0034074 biolink:PhenotypicFeature Increased fetal long bone echogenicity An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization. hp.json http://purl.obolibrary.org/obo/HP_0034074 HP:0034073 biolink:PhenotypicFeature Reduced fetal long bone echogenicity An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis. hp.json http://purl.obolibrary.org/obo/HP_0034073 HP:0034076 biolink:PhenotypicFeature Anti-ribosome Po antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po. hp.json http://purl.obolibrary.org/obo/HP_0034076 HP:0034075 biolink:PhenotypicFeature Decreased circulating apolipoprotein B concentration Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. hp.json http://purl.obolibrary.org/obo/HP_0034075 CHEBI:52214 biolink:ChemicalSubstance ligand Any molecule or ion capable of binding to a central metal atom to form coordination complexes. Wikipedia:Ligand hp.json ligands http://purl.obolibrary.org/obo/CHEBI_52214 3_STAR HP:0034070 biolink:PhenotypicFeature Anti-enterocyte antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes. hp.json AEA http://purl.obolibrary.org/obo/HP_0034070 CHEBI:52215 biolink:ChemicalSubstance photochemical role A chemical role played by the molecular entity or part thereof in a photochemical process. hp.json photochemical roles http://purl.obolibrary.org/obo/CHEBI_52215 3_STAR HP:0034072 biolink:PhenotypicFeature Abnormal fetal long-bone echogenicity Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging. hp.json http://purl.obolibrary.org/obo/HP_0034072 CHEBI:52217 biolink:ChemicalSubstance pharmaceutical Any substance introduced into a living organism with therapeutic or diagnostic purpose. hp.json pharmaceuticals|medicament|farmaco http://purl.obolibrary.org/obo/CHEBI_52217 3_STAR HP:0034071 biolink:PhenotypicFeature Anti-21-hydroxylase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase. hp.json Anti-P450c21 http://purl.obolibrary.org/obo/HP_0034071 HP:0034078 biolink:PhenotypicFeature Anti-centromere protein A antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A. hp.json Anti-CENP-A antibody positivity http://purl.obolibrary.org/obo/HP_0034078 HP:0034077 biolink:PhenotypicFeature Anti-complement component C1q antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q. hp.json Anti-C1q antibody positivity http://purl.obolibrary.org/obo/HP_0034077 HP:0034079 biolink:PhenotypicFeature Anti-centromere protein B antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B. hp.json Anti-CENP-B antibody positivity http://purl.obolibrary.org/obo/HP_0034079 UBERON:0009854 biolink:AnatomicalEntity digestive tract diverticulum Branch or outpocketing of the digestive tract. FBbt:00100316 hp.json intestinal pouch|diverticulum of gut http://purl.obolibrary.org/obo/UBERON_0009854 UBERON:0009856 biolink:AnatomicalEntity sac galen:Diverticulum hp.json pouch|diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 UBERON:0009857 biolink:AnatomicalEntity cavum septum pellucidum A space enclosed within the laminae of the septum pelludicum, the membranous partition that seperates the frontal horns of the ventricle. contains cerebrospinal fluid (CSF) that filters from the ventricles through the septal laminae. bounded anteriorly by the genu of the corpus callosum; superiorly by the body of the corpus callosum; posteriorly by the anterior limb and pillars of the fornix; inferiorly by the anterior commissure and the rostrum of the corpus callosum; and laterally by the leaflets of the septum pellucidum. NCIT:C32602|UMLS:C0228158|BAMS:CSP|FMA:61874|DHBA:12099|BTO:0003447 hp.json ventriculus septi pellucidi|cavum septi pellucidi|septum pellucidum cave|fifth ventricle|cave of septum pellucidum|cavum of septum pellucidum|cavum septi pellucidi http://purl.obolibrary.org/obo/UBERON_0009857 UBERON:0009859 biolink:AnatomicalEntity endosteum A thin layer of connective tissue that lines the surface of the bony tissue that forms the medullary cavity of long bones. NCIT:C13183|FMA:32692|UMLS:C0222658 hp.json http://purl.obolibrary.org/obo/UBERON_0009859 pheno_slim CHEBI:52210 biolink:ChemicalSubstance pharmacological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. hp.json http://purl.obolibrary.org/obo/CHEBI_52210 3_STAR CHEBI:52211 biolink:ChemicalSubstance physiological role hp.json http://purl.obolibrary.org/obo/CHEBI_52211 1_STAR HP:0034085 biolink:PhenotypicFeature Anti-PM-Scl100 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100. hp.json http://purl.obolibrary.org/obo/HP_0034085 CHEBI:52208 biolink:ChemicalSubstance biophysical role hp.json http://purl.obolibrary.org/obo/CHEBI_52208 1_STAR HP:0034084 biolink:PhenotypicFeature Anti-phosphatidyl ethanolamine antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine. hp.json http://purl.obolibrary.org/obo/HP_0034084 HP:0034087 biolink:PhenotypicFeature Anti-U11/U12 RNP antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP. hp.json http://purl.obolibrary.org/obo/HP_0034087 CHEBI:52209 biolink:ChemicalSubstance aetiopathogenetic role A role played by the molecular entity or part thereof which causes the development of a pathological process. hp.json etiopathogenetic role|etiopathogenetic agent http://purl.obolibrary.org/obo/CHEBI_52209 3_STAR HP:0034086 biolink:PhenotypicFeature Anti-PM-Scl75 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75. hp.json http://purl.obolibrary.org/obo/HP_0034086 HP:0034081 biolink:PhenotypicFeature Anti-Th/To antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To. hp.json http://purl.obolibrary.org/obo/HP_0034081 UBERON:5002389 biolink:AnatomicalEntity manual digit plus metapodial segment A subdivision of the autopod consisting of manual digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json manual digit ( phalanges plus metapodial) plus soft tissue|manual digit ray|manual digit digitopodial subdivision|manual digit http://purl.obolibrary.org/obo/UBERON_5002389 HP:0034080 biolink:PhenotypicFeature Anti-U3 RNP antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP. hp.json Anti-fibrillarin antibody positivity http://purl.obolibrary.org/obo/HP_0034080 HP:0034083 biolink:PhenotypicFeature Anti-nucleolus-organizing region antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90. hp.json Anti-Nor90 antibody positivity http://purl.obolibrary.org/obo/HP_0034083 HP:0034082 biolink:PhenotypicFeature Anti-bicaudal D2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2. hp.json Anti-BICD2 antibody positivity http://purl.obolibrary.org/obo/HP_0034082 CHEBI:52206 biolink:ChemicalSubstance biochemical role A biological role played by the molecular entity or part thereof within a biochemical context. hp.json http://purl.obolibrary.org/obo/CHEBI_52206 3_STAR CHEBI:27266 biolink:ChemicalSubstance valine A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isopropyl group. CAS:516-06-3|CAS:516-06-3|Wikipedia:Valine|Beilstein:506689|PMID:22770225|Reaxys:506689|KEGG:C16436|PMID:17190852|Gmelin:49877|CAS:516-06-3 hp.json valine|2-amino-3-methylbutanoic acid|valina|Hval|Valin|DL-valine http://purl.obolibrary.org/obo/CHEBI_27266 3_STAR CL:0000438 biolink:Cell luteinizing hormone secreting cell A peptide hormone secreting cell pituitary that produces luteinizing hormone. hp.json http://purl.obolibrary.org/obo/CL_0000438 CL:0000439 biolink:Cell prolactin secreting cell A peptide hormone cell that secretes prolactin. hp.json http://purl.obolibrary.org/obo/CL_0000439 HP:0034089 biolink:PhenotypicFeature Anti-B23 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23. hp.json http://purl.obolibrary.org/obo/HP_0034089 HP:0034088 biolink:PhenotypicFeature Anti-Ku antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku. hp.json http://purl.obolibrary.org/obo/HP_0034088 UBERON:0009843 biolink:AnatomicalEntity prostate epithelial cord A solid cord of prostate epithelium. hp.json cord of prostate epithelium|epithelial cord of prostate http://purl.obolibrary.org/obo/UBERON_0009843 UBERON:0009844 biolink:AnatomicalEntity urogenital sinus lumen An anatomical space that surrounded_by a primitive urogenital sinus. EHDAA2:0002142 hp.json http://purl.obolibrary.org/obo/UBERON_0009844 UBERON:0009845 biolink:AnatomicalEntity urogenital sinus mesenchyme Mesenchyme that surrounds primitive urogenital sinus. EMAPA:31500 hp.json UGM http://purl.obolibrary.org/obo/UBERON_0009845 UBERON:0009846 biolink:AnatomicalEntity embryonic cloacal epithelium An epithelium that is part of a embryonic cloaca. EHDAA2:0004585 hp.json cloacal epithelium http://purl.obolibrary.org/obo/UBERON_0009846 UBERON:0009847 biolink:AnatomicalEntity prostate field A specific region of the urogenital sinus epithelium into the area in which the prostate gland will develop. hp.json prostate primordium http://purl.obolibrary.org/obo/UBERON_0009847 CL:0000432 biolink:Cell reticular cell Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum. FMA:62877 hp.json reticulum cell http://purl.obolibrary.org/obo/CL_0000432 HP:0034090 biolink:PhenotypicFeature Anti-RuvBL1/2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2. hp.json http://purl.obolibrary.org/obo/HP_0034090 UBERON:0009842 biolink:AnatomicalEntity glandular acinus The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. Wikipedia:Acinus|FMA:55588 hp.json acini|acinus|acini http://purl.obolibrary.org/obo/UBERON_0009842 HP:0010041 biolink:PhenotypicFeature Short 3rd metacarpal Short third metacarpal bone. UMLS:C1850631 hp.json Small 3rd metacarpals|Shortened 3rd long bone of hand|Short third metacarpals|Hypoplastic 3rd metacarpal http://purl.obolibrary.org/obo/HP_0010041 HP:0010040 biolink:PhenotypicFeature Aplasia of the 3rd metacarpal Absence of the third long bone of the hand. UMLS:C4024088 hp.json Absent 3rd long bone of hand http://purl.obolibrary.org/obo/HP_0010040 HP:0009051 biolink:PhenotypicFeature Increased muscle glycogen content An increased amount of glycogen in muscle tissue. UMLS:C1968729 hp.json http://purl.obolibrary.org/obo/HP_0009051 HP:0034010 biolink:PhenotypicFeature Increased megakaryocyte colony forming unit count Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow. hp.json http://purl.obolibrary.org/obo/HP_0034010 HP:0009054 biolink:PhenotypicFeature Scapuloperoneal myopathy UMLS:C2931268|MSH:C536624 hp.json http://purl.obolibrary.org/obo/HP_0009054 HP:0009053 biolink:PhenotypicFeature Distal lower limb muscle weakness Reduced strength of the distal musculature of the legs. UMLS:C1836450 hp.json Distal muscle weakness in lower limbs|Muscle weakness, lower limb, distal http://purl.obolibrary.org/obo/HP_0009053 HP:0009050 biolink:PhenotypicFeature Quadriceps muscle atrophy Muscular atrophy involving the quadriceps muscle. UMLS:C4024603 hp.json Wasting of quad muscles http://purl.obolibrary.org/obo/HP_0009050 HP:0034016 biolink:PhenotypicFeature Anti-HLA antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA). hp.json Anti-human leukocyte antigen antibody positivity http://purl.obolibrary.org/obo/HP_0034016 HP:0010049 biolink:PhenotypicFeature Short metacarpal Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. UMLS:C1837084 hp.json Brachymetacarpalia|Short metacarpals|Shortening of metacarpals|Shortened long bones of hand|Shortened long bone of hand|Hypoplastic metacarpal|Shortened metacarpals|Short metacarpal bones|Metacarpal hypoplasia http://purl.obolibrary.org/obo/HP_0010049 hposlim_core HP:0034015 biolink:PhenotypicFeature Cavitating pulmonary nodule Thick-walled abnormal gas-filled interstitial nodule within a lung. hp.json http://purl.obolibrary.org/obo/HP_0034015 HP:0010048 biolink:PhenotypicFeature Aplasia of metacarpal bones Developmental defect associated with absence of one or more metacarpal bones. UMLS:C1846473 hp.json Absent long bone of hand|Absent metacarpal|Absent metacarpals http://purl.obolibrary.org/obo/HP_0010048 hposlim_core HP:0010047 biolink:PhenotypicFeature Short 5th metacarpal Short fifth metacarpal bone. UMLS:C1861388 hp.json Shortened 5th long bone of hand|Hypoplastic 5th metacarpal|Fifth metacarpal hypoplasia|Short fifth metacarpals|Short fifth metacarpal http://purl.obolibrary.org/obo/HP_0010047 HP:0034018 biolink:PhenotypicFeature Anti-class II HLA antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR). hp.json http://purl.obolibrary.org/obo/HP_0034018 HP:0010046 biolink:PhenotypicFeature Aplasia of the 5th metacarpal Absence of the fifth long bone of the hand. UMLS:C1867929 hp.json Absent 5th long bone of hand|Absent 5th metacarpal http://purl.obolibrary.org/obo/HP_0010046 HP:0034017 biolink:PhenotypicFeature Anti-class I HLA antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C). hp.json http://purl.obolibrary.org/obo/HP_0034017 HP:0010045 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 5th metacarpal Aplasia or Hypoplasia affecting the 5th metacarpal. UMLS:C4024085 hp.json Absent/small 5th long bone of hand|Absent/underdeveloped 5th long bone of hand http://purl.obolibrary.org/obo/HP_0010045 HP:0034012 biolink:PhenotypicFeature Palmoplantar hypohidrosis Decreased sweating on the palms and soles. hp.json http://purl.obolibrary.org/obo/HP_0034012 HP:0010044 biolink:PhenotypicFeature Short 4th metacarpal Short fourth metacarpal bone. UMLS:C1840309 hp.json Shortened 4th long bone of hand|Short fourth metacarpals|Hypoplastic fourth metacarpal|Short 4th metacarpals http://purl.obolibrary.org/obo/HP_0010044 HP:0034011 biolink:PhenotypicFeature Reduced progressive sperm motility A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion. hp.json Non-progressive sperm motility http://purl.obolibrary.org/obo/HP_0034011 HP:0010043 biolink:PhenotypicFeature Aplasia of the 4th metacarpal Absence of the fourth long bone of the hand. UMLS:C4024086 hp.json Absent 4th long bone of hand http://purl.obolibrary.org/obo/HP_0010043 HP:0034014 biolink:PhenotypicFeature Tubulonodular pericallosal lipoma A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles. hp.json http://purl.obolibrary.org/obo/HP_0034014 HP:0034013 biolink:PhenotypicFeature Curvilinear pericallosal lipoma A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum. hp.json http://purl.obolibrary.org/obo/HP_0034013 HP:0010042 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 4th metacarpal Aplasia or Hypoplasia affecting the 4th metacarpal. UMLS:C4024087 hp.json Absent/small 4th long bone of hand|Absent/underdeveloped 4th long bone of hand http://purl.obolibrary.org/obo/HP_0010042 HP:0034019 biolink:PhenotypicFeature Anti-HLA-A antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A). hp.json http://purl.obolibrary.org/obo/HP_0034019 HP:0009049 biolink:PhenotypicFeature Peroneal muscle atrophy Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). UMLS:C1389118 hp.json Peroneal atrophy http://purl.obolibrary.org/obo/HP_0009049 HP:0009045 biolink:PhenotypicFeature Exercise-induced rhabdomyolysis Rhabdomyolysis induced by exercise. UMLS:C4021526 hp.json Rhabdomyolysis with exercise http://purl.obolibrary.org/obo/HP_0009045 HP:0009044 biolink:PhenotypicFeature obsolete Hypoplasia of deltoid muscle hp.json http://purl.obolibrary.org/obo/HP_0009044 HP:0009046 biolink:PhenotypicFeature Difficulty running Reduced ability to run. SNOMEDCT_US:282479002|UMLS:C0560346 hp.json Difficulty running http://purl.obolibrary.org/obo/HP_0009046 HP:0010030 biolink:PhenotypicFeature Osteolytic defects of the 1st metacarpal Dissolution or degeneration of bone tissue of the 1st metacarpal. UMLS:C4024094 hp.json http://purl.obolibrary.org/obo/HP_0010030 HP:0012693 biolink:PhenotypicFeature Abnormal thalamic size Deviation from the normal range of size of the thalamus. UMLS:C4022773 hp.json http://purl.obolibrary.org/obo/HP_0012693 HP:0009063 biolink:PhenotypicFeature Progressive distal muscle weakness Progressively reduced strength of the distal musculature. UMLS:C1836609 hp.json Muscle weakness, distal, progressive|Muscle weakness, progressive, distal http://purl.obolibrary.org/obo/HP_0009063 HP:0009062 biolink:PhenotypicFeature Infantile axial hypotonia Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. UMLS:C3806604 hp.json Hypotonia, axial, in infancy http://purl.obolibrary.org/obo/HP_0009062 HP:0012694 biolink:PhenotypicFeature Enlarged thalamic volume An increase in the quantity of space occupied by the thalamus. UMLS:C4022772 hp.json http://purl.obolibrary.org/obo/HP_0012694 HP:0034021 biolink:PhenotypicFeature Anti-HLA-A IgG3 antibody positivity The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A). hp.json http://purl.obolibrary.org/obo/HP_0034021 HP:0012695 biolink:PhenotypicFeature Decreased thalamic volume A reduction in the quantity of space occupied by the thalamus. UMLS:C4022771 hp.json http://purl.obolibrary.org/obo/HP_0012695 HP:0009064 biolink:PhenotypicFeature Generalized lipodystrophy Generalized degenerative changes of the fat tissue. UMLS:C0221032|SNOMEDCT_US:284449005|MSH:D052497|SNOMEDCT_US:86907008 hp.json Generalised lipodystrophy|Lipodystrophy, generalized|Lipodystrophy, generalised http://purl.obolibrary.org/obo/HP_0009064 HP:0034020 biolink:PhenotypicFeature Anti-HLA-A IgG1 antibody positivity The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A). hp.json http://purl.obolibrary.org/obo/HP_0034020 HP:0012696 biolink:PhenotypicFeature Abnormal thalamic MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. UMLS:C4022770 hp.json http://purl.obolibrary.org/obo/HP_0012696 HP:0012697 biolink:PhenotypicFeature Small basal ganglia Decreased size of the basal ganglia. UMLS:C4022769 hp.json http://purl.obolibrary.org/obo/HP_0012697 HP:0012698 biolink:PhenotypicFeature Cerebellar gliosis Focal proliferation of glial cells in the cerebellum. UMLS:C4022768 hp.json http://purl.obolibrary.org/obo/HP_0012698 HP:0012699 biolink:PhenotypicFeature Anomaly of lower limb diaphyses A structural abnormality of a diaphysis of the leg. UMLS:C4022767 hp.json Anomaly of shaft of long bone of lower limb http://purl.obolibrary.org/obo/HP_0012699 HP:0009060 biolink:PhenotypicFeature Scapular muscle atrophy Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. UMLS:C3805969 hp.json http://purl.obolibrary.org/obo/HP_0009060 HP:0034027 biolink:PhenotypicFeature Abnormal urinary non-proteinogenic amino acid level Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. hp.json http://purl.obolibrary.org/obo/HP_0034027 HP:0010038 biolink:PhenotypicFeature Short 2nd metacarpal Short second metacarpal bone because of developmental hypoplasia. UMLS:C4020774|UMLS:C1969397 hp.json Shortened 2nd long bone of hand|Rudimentary 2nd metacarpal|Hypoplastic 2nd metacarpal http://purl.obolibrary.org/obo/HP_0010038 HP:0010037 biolink:PhenotypicFeature Aplasia of the 2nd metacarpal Absence of the second long bone of the hand. UMLS:C4024090 hp.json Absent 2nd long bone of hand http://purl.obolibrary.org/obo/HP_0010037 HP:0034026 biolink:PhenotypicFeature Elevated circulating sacchoropine concentration An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine. hp.json http://purl.obolibrary.org/obo/HP_0034026 HP:0034029 biolink:PhenotypicFeature Hepatic foam cells The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver. hp.json http://purl.obolibrary.org/obo/HP_0034029 HP:0010036 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 2nd metacarpal Aplasia or Hypoplasia affecting the 2nd metacarpal. UMLS:C4024091 hp.json Absent/small 2nd long bone of hand|Absent/underdeveloped 2nd long bone of hand http://purl.obolibrary.org/obo/HP_0010036 HP:0034028 biolink:PhenotypicFeature Saccharopinuria Presence of saccharopine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0034028 HP:0010035 biolink:PhenotypicFeature Aplasia of the 1st metacarpal Absent first metacarpal (long bone) of the hand. UMLS:C1838610 hp.json Absent 1st long bone of hand|Absent first metacarpal http://purl.obolibrary.org/obo/HP_0010035 HP:0010034 biolink:PhenotypicFeature Short 1st metacarpal A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. UMLS:C1849311 hp.json First metacarpals hypoplastic|Short first metacarpals|Short first metacarpal|Shortened 1st long bone of hand|Hypoplastic 1st metacarpal|First metacarpal hypoplasia http://purl.obolibrary.org/obo/HP_0010034 hposlim_core HP:0034023 biolink:PhenotypicFeature Anti-HLA-B IgG1 antibody positivity The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B). hp.json http://purl.obolibrary.org/obo/HP_0034023 HP:0012690 biolink:PhenotypicFeature T2 hypointense thalamus A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. UMLS:C4022776 hp.json http://purl.obolibrary.org/obo/HP_0012690 HP:0010033 biolink:PhenotypicFeature Triangular shaped 1st metacarpal This term applies to a triangular shaped 1st metacarpal. UMLS:C4024092 hp.json Triangular shaped 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010033 HP:0034022 biolink:PhenotypicFeature Anti-HLA-B antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B). hp.json http://purl.obolibrary.org/obo/HP_0034022 HP:0034025 biolink:PhenotypicFeature Abnormal circulating GABA concentration Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0034025 HP:0012691 biolink:PhenotypicFeature Focal T2 hypointense thalamic lesion A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus. UMLS:C4022775 hp.json http://purl.obolibrary.org/obo/HP_0012691 HP:0010031 biolink:PhenotypicFeature Patchy sclerosis of the 1st metacarpal Uneven increase in bone density within the 1st metacarpal. UMLS:C4024093 hp.json Uneven increase in bone density in 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010031 HP:0012692 biolink:PhenotypicFeature Focal T2 hyperintense thalamic lesion A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. UMLS:C4022774 hp.json http://purl.obolibrary.org/obo/HP_0012692 HP:0034024 biolink:PhenotypicFeature Anti-HLA-B IgG3 antibody positivity The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B). hp.json http://purl.obolibrary.org/obo/HP_0034024 HP:0010039 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 3rd metacarpal Aplasia or Hypoplasia affecting the 3rd metacarpal. UMLS:C4024089 hp.json Absent/underdeveloped 3rd long bone of hand|Absent/small 3rd long bone of hand http://purl.obolibrary.org/obo/HP_0010039 HP:0009059 biolink:PhenotypicFeature Congenital generalized lipodystrophy SNOMEDCT_US:86907008|UMLS:C0221032|SNOMEDCT_US:284449005|MSH:D052497 hp.json Congenital generalised lipodystrophy http://purl.obolibrary.org/obo/HP_0009059 HP:0009056 biolink:PhenotypicFeature Loss of subcutaneous adipose tissue from upper limbs UMLS:C4024602 hp.json Loss of fat tissue below the skin from upper limbs http://purl.obolibrary.org/obo/HP_0009056 HP:0009055 biolink:PhenotypicFeature Generalized limb muscle atrophy Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. UMLS:C1838114 hp.json Generalised muscle atrophy, proximal and distal|Generalized muscle wasting|Generalised muscle wasting|Generalized muscle atrophy, proximal and distal|Generalised limb muscle atrophy http://purl.obolibrary.org/obo/HP_0009055 HP:0009058 biolink:PhenotypicFeature Increased muscle lipid content An abnormal accumulation of lipids in skeletal muscle. UMLS:C1837262 hp.json Increased muscle lipid content|Lipid accumulation in skeletal muscle|Muscle lipidosis|Fat accumulation in muscle fibres|Fat deposits in muscle fibres|Fat accumulation in muscle fibers|Skeletal muscle lipid accumulation|Fat deposits in muscle fibers http://purl.obolibrary.org/obo/HP_0009058 GO:1990009 biolink:BiologicalProcess retinal cell apoptotic process Any apoptotic process in a retinal cell. hp.json induction of retinal programmed cell death http://purl.obolibrary.org/obo/GO_1990009 HP:0012682 biolink:PhenotypicFeature Pineal gland calcification Accumulation of calcium salts in the pineal gland. UMLS:C1398718 hp.json http://purl.obolibrary.org/obo/HP_0012682 HP:0034030 biolink:PhenotypicFeature Lip cyanosis Bluish discoloration of the lips. hp.json Cyanotic lips|Labial cyanosis|Bluish lips http://purl.obolibrary.org/obo/HP_0034030 HP:0012683 biolink:PhenotypicFeature Pineal cyst A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland. SNOMEDCT_US:413099000|UMLS:C1335411 hp.json http://purl.obolibrary.org/obo/HP_0012683 HP:0034032 biolink:PhenotypicFeature Central cyanosis Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin. hp.json http://purl.obolibrary.org/obo/HP_0034032 HP:0012684 biolink:PhenotypicFeature Abnormal pineal volume An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland. UMLS:C4022781 hp.json http://purl.obolibrary.org/obo/HP_0012684 HP:0009031 biolink:PhenotypicFeature Amyotrophy of ankle musculature Atrophy of the muscles of the ankle. UMLS:C4024604 hp.json http://purl.obolibrary.org/obo/HP_0009031 HP:0034031 biolink:PhenotypicFeature Facial cyanosis Bluish discoloration of one or more regions of the face. hp.json Bluish face|Cyanotic face http://purl.obolibrary.org/obo/HP_0034031 HP:0012685 biolink:PhenotypicFeature Decreased pineal volume An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland. UMLS:C4022780 hp.json http://purl.obolibrary.org/obo/HP_0012685 HP:0012686 biolink:PhenotypicFeature Increased pineal volume An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland. UMLS:C4022779 hp.json http://purl.obolibrary.org/obo/HP_0012686 GO:1990010 biolink:BiologicalProcess compound eye retinal cell apoptotic process Any apoptotic process in a compound eye retinal cell. hp.json http://purl.obolibrary.org/obo/GO_1990010 HP:0012687 biolink:PhenotypicFeature Agenesis of pineal gland Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. UMLS:C3553078 hp.json http://purl.obolibrary.org/obo/HP_0012687 HP:0012688 biolink:PhenotypicFeature Abnormality of pineal physiology A functional abnormality of the pineal gland. UMLS:C4022778 hp.json http://purl.obolibrary.org/obo/HP_0012688 HP:0012689 biolink:PhenotypicFeature Abnormal pineal melatonin secretion An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland. UMLS:C4022777 hp.json http://purl.obolibrary.org/obo/HP_0012689 HP:0010027 biolink:PhenotypicFeature Broad 1st metacarpal Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. UMLS:C4024097 hp.json Wide 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010027 HP:0034038 biolink:PhenotypicFeature Silent hypoxemia Abnormally low blood oxygen level without the presence of dyspnea. hp.json http://purl.obolibrary.org/obo/HP_0034038 HP:0010026 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 1st metacarpal Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). UMLS:C4024098 hp.json Absent/underdeveloped 1st long bone of hand|Absent/small 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010026 HP:0034037 biolink:PhenotypicFeature Pseudo-chilblains on fingers Inflammatory chilblain-like nodules on the hands and/or fingers. hp.json COVID finger|COVID fingers http://purl.obolibrary.org/obo/HP_0034037 HP:0010025 biolink:PhenotypicFeature Triangular epiphysis of the 1st metacarpal UMLS:C4024099 hp.json Triangular end part of the 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010025 HP:0010024 biolink:PhenotypicFeature Epiphyseal stippling of the first metacarpal The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone. UMLS:C4021345 hp.json Stippling of the epiphysis of the 1st metacarpal|Speckled calcifications in the end part of the first long bone of hand http://purl.obolibrary.org/obo/HP_0010024 HP:0034039 biolink:PhenotypicFeature Ventricular couplet Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats. hp.json Doublet premature ventricular contractions http://purl.obolibrary.org/obo/HP_0034039 HP:0034034 biolink:PhenotypicFeature Differential cyanosis Differential degree of bluish discoloration between the upper and lower extremities. hp.json http://purl.obolibrary.org/obo/HP_0034034 HP:0010023 biolink:PhenotypicFeature Small epiphysis of the 1st metacarpal Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms. UMLS:C4024100 hp.json Small end part of the 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010023 HP:0034033 biolink:PhenotypicFeature Peripheral cyanosis Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved. hp.json http://purl.obolibrary.org/obo/HP_0034033 HP:0010022 biolink:PhenotypicFeature Pseudoepiphysis of the 1st metacarpal The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal. UMLS:C4024101 hp.json http://purl.obolibrary.org/obo/HP_0010022 HP:0010021 biolink:PhenotypicFeature Ivory epiphysis of the 1st metacarpal The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. UMLS:C4024102 hp.json Increased bone density of end part of the 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010021 HP:0034036 biolink:PhenotypicFeature Pseudo-chilblains on toes Inflammatory chilblain-like nodules on the feet and/or toes. hp.json Chilblain-like toe lesions|Chilblain-like toes|COVID toe http://purl.obolibrary.org/obo/HP_0034036 HP:0012680 biolink:PhenotypicFeature Abnormality of the pineal gland An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin. UMLS:C4022783 hp.json http://purl.obolibrary.org/obo/HP_0012680 HP:0012681 biolink:PhenotypicFeature Abnormal pineal morphology A structural abnormality of the pineal gland. UMLS:C4022782 hp.json Abnormality of pineal morphology http://purl.obolibrary.org/obo/HP_0012681 HP:0034035 biolink:PhenotypicFeature Pharyngeal exudate Fluid exuded from the posterior wall of the pharynx. hp.json Pharyngeal fluid|Fluid from the pharynx http://purl.obolibrary.org/obo/HP_0034035 HP:0010020 biolink:PhenotypicFeature Irregular epiphysis of the 1st metacarpal Uneven radiographic opacity of the epiphysis of the 1st metacarpal. UMLS:C4024103 hp.json Irregular end part of the 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010020 HP:0000692 biolink:PhenotypicFeature Tooth malposition Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. UMLS:C1852504|UMLS:C4280610 hp.json Teeth, malposition|Abnormal dental position|Malposition of teeth|Abnormality of position of teeth|Abnormality of alignment of teeth|Abnormality of teeth spacing|Malpositioned teeth|Malaligned teeth|Crooked teeth|Misalignment of teeth|Abnormal teeth spacing http://purl.obolibrary.org/obo/HP_0000692 HP:0000695 biolink:PhenotypicFeature Natal tooth A tooth present at birth or erupting within the first month of life. UMLS:C0027443|SNOMEDCT_US:58748004|SNOMEDCT_US:21995002|MSH:D009306 hp.json Teeth present at birth|Natal teeth|Born with teeth|Neonatal teeth http://purl.obolibrary.org/obo/HP_0000695 hposlim_core HP:0000694 biolink:PhenotypicFeature Odontodysplasia The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin. SNOMEDCT_US:67504007|UMLS:C2981132 hp.json Shell teeth|Teeth with dentinal dysplasia|Ghost teeth|Teeth with type iii dentinogenesis imperfecta|Teeth with thin dentin and large pulp chambers http://purl.obolibrary.org/obo/HP_0000694 HP:0000696 biolink:PhenotypicFeature Delayed eruption of permanent teeth Delayed tooth eruption affecting the secondary dentition. UMLS:C1849540 hp.json Delayed eruption of secondary teeth|Delayed eruption of permanent teeth|Delayed eruption of adult teeth|Delayed eruption of secondary dentition|Delayed permanent dentition http://purl.obolibrary.org/obo/HP_0000696 HP:0000699 biolink:PhenotypicFeature Diastema Increased space between two adjacent teeth in the same dental arch. UMLS:C0011998|SNOMEDCT_US:35591002|MSH:D003970 hp.json Gaps between teeth|Dental diastasis|Dental diastema|Gap between teeth|Diastasis of the teeth|Diastema of the teeth http://purl.obolibrary.org/obo/HP_0000699 hposlim_core HP:0010029 biolink:PhenotypicFeature Curved 1st metacarpal A deviation from the normal straight shape of the first metacarpal. UMLS:C4024095 hp.json Curved 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010029 HP:0000698 biolink:PhenotypicFeature Conical tooth An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. UMLS:C4012359|SNOMEDCT_US:29553002|UMLS:C0266037 hp.json Conical teeth|Peg tooth|Pointed tooth|Conoid tooth|Peg shaped teeth|Peg-shaped teeth|Shark tooth|Cone shaped tooth|Peg shaped tooth http://purl.obolibrary.org/obo/HP_0000698 hposlim_core HP:0010028 biolink:PhenotypicFeature Bullet-shaped 1st metacarpal The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped"). UMLS:C4024096 hp.json Bullet-shaped 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010028 HP:0009027 biolink:PhenotypicFeature Foot dorsiflexor weakness Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. UMLS:C1866141|UMLS:C0085684|SNOMEDCT_US:6077001 hp.json Inability to walk on heels|Inability to heel walk|Foot extensor weakness|Footdrop|Foot drop http://purl.obolibrary.org/obo/HP_0009027 CHEBI:78840 biolink:ChemicalSubstance olefinic compound Any organic molecular entity that contains at least one C=C bond. hp.json olefinic compounds http://purl.obolibrary.org/obo/CHEBI_78840 3_STAR HP:0009026 biolink:PhenotypicFeature Hypoplasia of latissimus dorsi muscle Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula. UMLS:C3805860 hp.json http://purl.obolibrary.org/obo/HP_0009026 HP:0009028 biolink:PhenotypicFeature Generalized weakness of limb muscles Generalized weakness of the muscles of the arms and legs. UMLS:C4024605 hp.json Generalised weakness of limb muscles http://purl.obolibrary.org/obo/HP_0009028 HP:0009023 biolink:PhenotypicFeature Abdominal wall muscle weakness Decreased strength of the abdominal musculature. UMLS:C4021527 hp.json Lax abdominal musculature http://purl.obolibrary.org/obo/HP_0009023 HP:0009025 biolink:PhenotypicFeature Increased connective tissue The presence of an abnormally increased amount of connective tissue. UMLS:C1866021 hp.json http://purl.obolibrary.org/obo/HP_0009025 HP:0000691 biolink:PhenotypicFeature Microdontia Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. SNOMEDCT_US:32337007|UMLS:C0240340|UMLS:C4280612|UMLS:C4280611 hp.json Small tooth|Small teeth|Tooth hypoplasia|Underdeveloped tooth|Decreased size of tooth|Decreased width of tooth|Hypotrophic tooth|Tooth hypotrophy http://purl.obolibrary.org/obo/HP_0000691 hposlim_core HP:0000690 biolink:PhenotypicFeature Agenesis of maxillary lateral incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. UMLS:C4083046|UMLS:C1849950 hp.json Absent upper lateral incisors|Absence of maxillary lateral incisor|Absence of upper lateral incisor|Missing maxillary lateral incisor|Failure of development of maxillary lateral incisor|Missing upper lateral incisor http://purl.obolibrary.org/obo/HP_0000690 HP:0034041 biolink:PhenotypicFeature Ventricular ectopy Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy. hp.json http://purl.obolibrary.org/obo/HP_0034041 HP:0012671 biolink:PhenotypicFeature Abulia Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency. UMLS:C0919974 hp.json Aboulia http://purl.obolibrary.org/obo/HP_0012671 HP:0012672 biolink:PhenotypicFeature Akinetic mutism Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking. SNOMEDCT_US:53333005|MSH:D000405|UMLS:C0001889 hp.json http://purl.obolibrary.org/obo/HP_0012672 HP:0034040 biolink:PhenotypicFeature Bidirectional ventricular tachycardia Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm. hp.json http://purl.obolibrary.org/obo/HP_0034040 HP:0034043 biolink:PhenotypicFeature Increased fecal bile acid Elevated amount of bile acids in the feces. hp.json http://purl.obolibrary.org/obo/HP_0034043 HP:0012673 biolink:PhenotypicFeature Aplasia of the upper vagina A failure to develop of the upper vagina. UMLS:C4022788 hp.json Absent upper vagina http://purl.obolibrary.org/obo/HP_0012673 HP:0012674 biolink:PhenotypicFeature Aplasia of the lower vagina A failure to develop of the lower part of the vagina. SNOMEDCT_US:253834007|UMLS:C0431646 hp.json Absent lower vagina|Agenesis of the lower vagina http://purl.obolibrary.org/obo/HP_0012674 HP:0009042 biolink:PhenotypicFeature obsolete Marked muscular hypertrophy hp.json http://purl.obolibrary.org/obo/HP_0009042 HP:0034042 biolink:PhenotypicFeature Dorsal hirsutism Abnormally increased hair growth in the lskin of the back. hp.json http://purl.obolibrary.org/obo/HP_0034042 HP:0012675 biolink:PhenotypicFeature Iron accumulation in brain An abnormal build up of iron (Fe) in brain tissue. UMLS:C4021076 hp.json Brain iron deposition|Iron accumulation in brain http://purl.obolibrary.org/obo/HP_0012675 HP:0012676 biolink:PhenotypicFeature Copper accumulation in brain An anomalous build up of copper (Cu) in the brain. UMLS:C4022787 hp.json Copper accumulation in brain|Brain copper accumulation http://purl.obolibrary.org/obo/HP_0012676 HP:0012677 biolink:PhenotypicFeature obsolete Iron accumulation in globus pallidus hp.json http://purl.obolibrary.org/obo/HP_0012677 HP:0012678 biolink:PhenotypicFeature Iron accumulation in substantia nigra An anomalous build up of iron (Fe) in the substantia nigra. UMLS:C4022785 hp.json http://purl.obolibrary.org/obo/HP_0012678 HP:0034049 biolink:PhenotypicFeature Elevated urinary prostaglandin E2 level An increased amount of prostaglandin E2 in the urine. hp.json Elevated urinary PGE2 level http://purl.obolibrary.org/obo/HP_0034049 HP:0010016 biolink:PhenotypicFeature Bracket epiphysis of the 1st metacarpal An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate. UMLS:C4024107 hp.json Bracket shaped end part of 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010016 CHEBI:66873 biolink:ChemicalSubstance C4-dicarboxylic acid Any dicarboxylic acid that contains four carbon atoms. hp.json C4-dicarboxylic acids http://purl.obolibrary.org/obo/CHEBI_66873 3_STAR HP:0034048 biolink:PhenotypicFeature Decreased circulating chenodeoxycholic acid concentration A reduced concentration of chenodeoxycholic acid in the blood circulation. hp.json Decreased circulating chenodiol concentration http://purl.obolibrary.org/obo/HP_0034048 CHEBI:66874 biolink:ChemicalSubstance carnosinate An N-acyl-L-alpha-amino acid anion that is the conjugate base of carnosine, obtained by deprotonation of the carboxy group. Reaxys:6337985 hp.json carnosinate anion|carnosinate(1-)|N(alpha)-(beta-alanyl)-L-histidinate|(2S)-2-(beta-alanylamino)-3-(1H-imidazol-4-yl)propanoate http://purl.obolibrary.org/obo/CHEBI_66874 3_STAR HP:0010015 biolink:PhenotypicFeature Absent epiphysis of the 1st metacarpal UMLS:C4024108 hp.json Absent end part of the 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010015 HP:0010014 biolink:PhenotypicFeature Abnormality of the epiphysis of the 1st metacarpal In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays. UMLS:C4024109 hp.json Abnormality of the end part of the 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010014 HP:0010013 biolink:PhenotypicFeature Abnormal 5th metacarpal morphology Any abnormality of the fifth metacarpal bone. UMLS:C4024110 hp.json Abnormality of the 5th long bone of hand|Abnormality of the 5th metacarpal http://purl.obolibrary.org/obo/HP_0010013 HP:0034045 biolink:PhenotypicFeature Angulated muscle fibers Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip. hp.json Angular muscle fibers http://purl.obolibrary.org/obo/HP_0034045 HP:0010012 biolink:PhenotypicFeature Abnormal 4th metacarpal morphology Any abnormality of the fourth metacarpal bone. UMLS:C4024111 hp.json Abnormality of the 4th long bone of hand|Abnormality of the 4th metacarpal http://purl.obolibrary.org/obo/HP_0010012 HP:0010011 biolink:PhenotypicFeature Abnormal 3rd metacarpal morphology Any abnormality of the third metacarpal bone. UMLS:C4024112 hp.json Abnormality of the 3rd metacarpal|Abnormality of the 3rd long bone of hand http://purl.obolibrary.org/obo/HP_0010011 HP:0034044 biolink:PhenotypicFeature Trident pelvis Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident. hp.json Trident sign http://purl.obolibrary.org/obo/HP_0034044 HP:0034047 biolink:PhenotypicFeature Rib osteolysis Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib. hp.json http://purl.obolibrary.org/obo/HP_0034047 HP:0010010 biolink:PhenotypicFeature Abnormal 2nd metacarpal morphology Any abnormality of the second metacarpal bone. UMLS:C4024113 hp.json Abnormality of the 2nd long bone of hand|Abnormality of the 2nd metacarpal http://purl.obolibrary.org/obo/HP_0010010 HP:0034046 biolink:PhenotypicFeature Mandibular osteolysis Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible. hp.json http://purl.obolibrary.org/obo/HP_0034046 HP:0012670 biolink:PhenotypicFeature Orthostatic syncope Syncope following a quick change in position from lying down to standing. UMLS:C0749201 hp.json http://purl.obolibrary.org/obo/HP_0012670 HP:0010019 biolink:PhenotypicFeature Fragmentation of the epiphysis of the 1st metacarpal Epiphysis of the 1st metacarpal having multiple bony fragments. UMLS:C4024104 hp.json Fragmentation of the end part of the 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010019 HP:0010018 biolink:PhenotypicFeature Enlarged epiphysis of the 1st metacarpal Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms. UMLS:C4024105 hp.json Enlarged end part of the 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010018 HP:0010017 biolink:PhenotypicFeature Cone-shaped epiphysis of the 1st metacarpal A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. UMLS:C4024106 hp.json Cone-shaped end part of the 1st long bone of hand http://purl.obolibrary.org/obo/HP_0010017 HP:0012679 biolink:PhenotypicFeature Widened interpedicular distance An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. UMLS:C4022784 hp.json http://purl.obolibrary.org/obo/HP_0012679 HP:0009037 biolink:PhenotypicFeature Segmental spinal muscular atrophy UMLS:C1866774|MSH:C566670 hp.json http://purl.obolibrary.org/obo/HP_0009037 HP:0010085 biolink:PhenotypicFeature Aplasia/Hypoplasia of the proximal phalanx of the hallux UMLS:C4024061 hp.json Absent/small innermost big toe bone|Absent/underdeveloped innermost big toe bone http://purl.obolibrary.org/obo/HP_0010085 HP:0010084 biolink:PhenotypicFeature Duplication of the distal phalanx of the hallux UMLS:C4021339 hp.json Duplication of the outermost bone of big toe|Partial/complete duplication of the distal phalanx of the hallux http://purl.obolibrary.org/obo/HP_0010084 HP:0010083 biolink:PhenotypicFeature Triangular shaped distal phalanx of the hallux UMLS:C4024062 hp.json Triangular shaped outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010083 HP:0009098 biolink:PhenotypicFeature Chronic oral candidiasis Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. UMLS:C4024599 hp.json Chronic oral thrush http://purl.obolibrary.org/obo/HP_0009098 HP:0010082 biolink:PhenotypicFeature Symphalangism affecting the distal phalanx of the hallux UMLS:C4024063 hp.json Fused outermost bone of big toe http://purl.obolibrary.org/obo/HP_0010082 CHEBI:76206 biolink:ChemicalSubstance xenobiotic metabolite Any metabolite produced by metabolism of a xenobiotic compound. hp.json xenobiotic metabolites http://purl.obolibrary.org/obo/CHEBI_76206 3_STAR HP:0010081 biolink:PhenotypicFeature Patchy sclerosis of the distal phalanx of the hallux UMLS:C4024064 hp.json Uneven increase in bone density in the outermost bone of big toe http://purl.obolibrary.org/obo/HP_0010081 HP:0009092 biolink:PhenotypicFeature Progressive alveolar ridge hypertropy UMLS:C4280407|UMLS:C1854934 hp.json Progressive hypertrophy of alveolar process of jaw|Increasing overgrowth of gum ridge|Increasing size of gum ridge http://purl.obolibrary.org/obo/HP_0009092 HP:0010080 biolink:PhenotypicFeature Osteolytic defects of the distal phalanx of the hallux UMLS:C4024065 hp.json http://purl.obolibrary.org/obo/HP_0010080 HP:0009094 biolink:PhenotypicFeature Cleft lower alveolar ridge UMLS:C4280406|UMLS:C4280405|UMLS:C1849350|UMLS:C4280404 hp.json Notch of lower gum ridge|Notch of mandibular alveolar ridge|Cleft of lower gum ridge|Notch of lower alveolar ridge|Notch of mandibular alveolar process|Cleft of lower alveolar process|Cleft of mandibular alveolar process|Cleft of lower gingiva|Cleft of mandibular gingiva|Notch of lower alveolar process http://purl.obolibrary.org/obo/HP_0009094 CHEBI:66884 biolink:ChemicalSubstance N-alkylglycine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of any N-alkylglycine; major species at pH 7.3. MetaCyc:N-Alkylglycine|PMID:9989229 hp.json an N-alkylglycine http://purl.obolibrary.org/obo/CHEBI_66884 3_STAR HP:0009090 biolink:PhenotypicFeature obsolete Facial diplegic appearance hp.json http://purl.obolibrary.org/obo/HP_0009090 HP:0010089 biolink:PhenotypicFeature Osteolytic defects of the proximal phalanx of the hallux UMLS:C4024058 hp.json http://purl.obolibrary.org/obo/HP_0010089 HP:0010088 biolink:PhenotypicFeature Curved proximal phalanx of the hallux A deviation from the normal straight form of the proximal phalanx of the big toe. UMLS:C4024059 hp.json Curved innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010088 HP:0010087 biolink:PhenotypicFeature Bullet-shaped proximal phalanx of the hallux An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4024060 hp.json Bullet-shaped innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010087 HP:0010086 biolink:PhenotypicFeature Broad proximal phalanx of the hallux Increased width of proximal phalanx of big toe. UMLS:C4021338 hp.json Broad innermost bone of the big toe|Broad proximal phalanx of the big toe http://purl.obolibrary.org/obo/HP_0010086 HP:0009088 biolink:PhenotypicFeature Speech articulation difficulties Impairment in the physical production of speech sounds. UMLS:C1865313 hp.json http://purl.obolibrary.org/obo/HP_0009088 HP:0010074 biolink:PhenotypicFeature Triangular shaped 1st metatarsal UMLS:C4024070 hp.json Triangular shaped 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010074 HP:0010073 biolink:PhenotypicFeature Synostosis involving the 1st metatarsal UMLS:C4024071 hp.json Fusion involving the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010073 HP:0010072 biolink:PhenotypicFeature Patchy sclerosis of the 1st metatarsal UMLS:C4024072 hp.json Uneven increase in bone density of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010072 HP:0010071 biolink:PhenotypicFeature Osteolytic defects of the 1st metatarsal Dissolution or degeneration of bone tissue of the first metatarsal. UMLS:C4024073 hp.json http://purl.obolibrary.org/obo/HP_0010071 HP:0010070 biolink:PhenotypicFeature Curved 1st metatarsal A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone. UMLS:C4024074 hp.json Curved 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010070 HP:0010079 biolink:PhenotypicFeature Curved distal phalanx of the hallux A deviation from the normal straight form of the distal phalanx of the big toe. UMLS:C4024066 hp.json Curved outermost bone of big toe http://purl.obolibrary.org/obo/HP_0010079 HP:0010078 biolink:PhenotypicFeature Bullet-shaped distal phalanx of the hallux An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4024067 hp.json Bullet-shaped outermost bone of big toe http://purl.obolibrary.org/obo/HP_0010078 HP:0010077 biolink:PhenotypicFeature Broad distal phalanx of the hallux An increase in width of the distal phalanx of the big toe. UMLS:C4024068 hp.json Wide outermost bone of big toe|Broad outermost bone of big toe http://purl.obolibrary.org/obo/HP_0010077 HP:0010076 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanx of the hallux UMLS:C4024069 hp.json Absent/underdeveloped outermost big toe bone|Absent/small outermost big toe bone http://purl.obolibrary.org/obo/HP_0010076 UBERON:6000137 biolink:AnatomicalEntity embryonic tagma Any tagma (UBERON:6000002) that is part of some embryo (UBERON:6000052). FBbt:00000137 hp.json http://purl.obolibrary.org/obo/UBERON_6000137 HP:0010075 biolink:PhenotypicFeature Duplication of the 1st metatarsal A developmental defect consisting in the duplication of the first metatarsal bone. UMLS:C1851855 hp.json Duplicated first metatarsals|Duplicated 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010075 HP:0009099 biolink:PhenotypicFeature Median cleft palate Cleft palate of the midline of the palate. UMLS:C1850968 hp.json Central cleft palate|Midline cleft palate http://purl.obolibrary.org/obo/HP_0009099 HP:0010063 biolink:PhenotypicFeature Patchy sclerosis of hallux phalanx Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4021340 hp.json Patchy sclerosis of the phalanges of the hallux|Uneven increase in bone density in big toe bone http://purl.obolibrary.org/obo/HP_0010063 HP:0009073 biolink:PhenotypicFeature Progressive proximal muscle weakness Lack of strength of the proximal muscles that becomes progressively more severe. UMLS:C1836156 hp.json Muscle weakness, progressive, proximal http://purl.obolibrary.org/obo/HP_0009073 HP:0010062 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the hallux UMLS:C4024078 hp.json http://purl.obolibrary.org/obo/HP_0010062 HP:0010061 biolink:PhenotypicFeature Curved hallux phalanx A deviation from the normal straight form of one or more phalanges of the big toe. UMLS:C4021341 hp.json Curved phalanges of the hallux|Curve bones of big toe http://purl.obolibrary.org/obo/HP_0010061 HP:0010060 biolink:PhenotypicFeature Bullet-shaped hallux phalanx An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4021342 hp.json Bullet-shaped phalanges of the hallux|Bullet-shaped bone of big toe http://purl.obolibrary.org/obo/HP_0010060 HP:0009072 biolink:PhenotypicFeature Decreased Achilles reflex Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. UMLS:C1837323 hp.json Hyporeflexia at ankle joints http://purl.obolibrary.org/obo/HP_0009072 HP:0009071 biolink:PhenotypicFeature Inflammatory myopathy Chronic muscle inflammation accompanied by muscle weakness. MSH:D009220|UMLS:C0027121|SNOMEDCT_US:26889001|SNOMEDCT_US:128496001 hp.json http://purl.obolibrary.org/obo/HP_0009071 HP:0010069 biolink:PhenotypicFeature Bullet-shaped 1st metatarsal An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction. UMLS:C4024075 hp.json Bullet-shaped 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010069 HP:0010068 biolink:PhenotypicFeature Broad first metatarsal Increased side-to-side width of the first metatarsal bone. UMLS:C1855899 hp.json Wide 1st long bone of foot|Enlarged first metatarsal|Broad 1st metatarsal http://purl.obolibrary.org/obo/HP_0010068 HP:0010067 biolink:PhenotypicFeature Aplasia/hypoplasia of the 1st metatarsal Absence or underdevelopment of the first metatarsal bone. UMLS:C4024076 hp.json Absent/small 1st long bone of foot|Absent/underdeveloped 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010067 HP:0010066 biolink:PhenotypicFeature Duplication of phalanx of hallux Partial or complete duplication of one or more phalanx of big toe. UMLS:C4020691|UMLS:C1860164 hp.json Duplicated hallux|Partial/complete duplication of the phalanges of the hallux|Hallucal duplication|Duplication of phalanx of big toe|Duplication of big toe bone|Duplication of great toes http://purl.obolibrary.org/obo/HP_0010066 HP:0010065 biolink:PhenotypicFeature Triangular shaped phalanges of the hallux UMLS:C4024077 hp.json Triangular shaped bones of big toe http://purl.obolibrary.org/obo/HP_0010065 HP:0010064 biolink:PhenotypicFeature Symphalangism affecting the phalanges of the hallux UMLS:C1836216 hp.json Fused big toe bones|hallucal symphalangism http://purl.obolibrary.org/obo/HP_0010064 CHEBI:52290 biolink:ChemicalSubstance mitogen A chemical substance that encourages a cell to commence cell division, triggering mitosis. hp.json mitogens http://purl.obolibrary.org/obo/CHEBI_52290 3_STAR HP:0009067 biolink:PhenotypicFeature Progressive spinal muscular atrophy Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. UMLS:C4082951 hp.json Progressive spinal muscle degeneration|Progressive spinal muscle wasting http://purl.obolibrary.org/obo/HP_0009067 HP:0009069 biolink:PhenotypicFeature Lethal infantile mitochondrial myopathy UMLS:C1838876|MSH:C564017 hp.json http://purl.obolibrary.org/obo/HP_0009069 HP:0009085 biolink:PhenotypicFeature Alveolar ridge overgrowth Increased width of the alveolar ridges. UMLS:C1856164|UMLS:C1865598 hp.json Thickened alveolar ridges|Increased size of alveolar ridge|Hypertrophied alveolar ridge|Hyperplasia of alveolar process of jaw|Increased size of gum ridge|Thick alveolar ridges|Overgrowth of gum ridge|Alveolar ridge excess|Enlarged alveolar ridge|Overgrowth of alveolar ridge|Hyperplasia of alveolar ridge http://purl.obolibrary.org/obo/HP_0009085 hposlim_core HP:0010052 biolink:PhenotypicFeature Abnormal morphology of the proximal phalanx of the hallux An abnormal shape or form of the proximal phalanx of the big toe. UMLS:C4024084 hp.json Abnormal innermost big toe bone|Abnormality of the proximal phalanx of the hallux http://purl.obolibrary.org/obo/HP_0010052 HP:0010051 biolink:PhenotypicFeature Deviation of the hallux Displacement of the big toe from its normal position. UMLS:C4021344 hp.json Displacement of the hallux|Displacement of big toe http://purl.obolibrary.org/obo/HP_0010051 HP:0009084 biolink:PhenotypicFeature Midline notch of upper alveolar ridge UMLS:C1851853 hp.json Midline cleft of maxillary alveolar process|Midline notch of maxillary alveolar process|Midline cleft of upper alveolar ridge|Midline notch of upper gum ridge|Midline notch of maxillary alveolar ridge http://purl.obolibrary.org/obo/HP_0009084 HP:0009087 biolink:PhenotypicFeature Posteriorly placed tongue UMLS:C4024600 hp.json Posteriorly placed tongue http://purl.obolibrary.org/obo/HP_0009087 HP:0034005 biolink:PhenotypicFeature Decreased dendritic spine number An abnormal reduction in the amount of spines on a given dendrite. hp.json http://purl.obolibrary.org/obo/HP_0034005 HP:0010059 biolink:PhenotypicFeature Broad hallux phalanx An increase in width in one or more phalanges of the big toe. UMLS:C4021343 hp.json Broad phalanges of the hallux|Wide bone of big toe|Broad bone of big toe http://purl.obolibrary.org/obo/HP_0010059 HP:0034004 biolink:PhenotypicFeature Parosmia Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli. hp.json http://purl.obolibrary.org/obo/HP_0034004 HP:0010058 biolink:PhenotypicFeature Aplasia/Hypoplasia of the phalanges of the hallux UMLS:C4024079 hp.json Absent/small big toe bone|Absent/underdeveloped big toe bone http://purl.obolibrary.org/obo/HP_0010058 HP:0034007 biolink:PhenotypicFeature Posterior atrophy of corpus callosum The presence of atrophy (wasting) of the posterior portion of the corpus callosum. hp.json http://purl.obolibrary.org/obo/HP_0034007 HP:0034006 biolink:PhenotypicFeature Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation. hp.json http://purl.obolibrary.org/obo/HP_0034006 HP:0010057 biolink:PhenotypicFeature Abnormal hallux phalanx morphology UMLS:C4024080 hp.json Abnormality of the phalanges of the hallux|Abnormal big toe bones http://purl.obolibrary.org/obo/HP_0010057 HP:0010056 biolink:PhenotypicFeature Abnormality of the epiphyses of the hallux UMLS:C4024081 hp.json Abnormality of the end part of the big toe bone http://purl.obolibrary.org/obo/HP_0010056 HP:0034001 biolink:PhenotypicFeature Anti-Complement factor H antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H. hp.json CFH autoantibodies http://purl.obolibrary.org/obo/HP_0034001 HP:0010055 biolink:PhenotypicFeature Broad hallux Visible increase in width of the hallux without an increase in the dorso-ventral dimension. UMLS:C1867131 hp.json Broad halluces|Broad great toes|Broad great toe|Wide big toe|Abnormally broad great toes|Broad big toe http://purl.obolibrary.org/obo/HP_0010055 hposlim_core HP:0034000 biolink:PhenotypicFeature Tracheal hemorrhage Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy. hp.json Tracheal bleeding http://purl.obolibrary.org/obo/HP_0034000 HP:0034003 biolink:PhenotypicFeature Broad medial eyebrow Regional increase in the width (height) of the middle portion of the eyebrow. hp.json Medial broadening of eyebrows http://purl.obolibrary.org/obo/HP_0034003 HP:0010054 biolink:PhenotypicFeature Abnormality of the first metatarsal bone An anomaly of the first metatarsal bone. UMLS:C4024082 hp.json Abnormality of the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0010054 HP:0034002 biolink:PhenotypicFeature Anti-phospholipase A2 receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor. hp.json Anti-PLA2R antibody positivity http://purl.obolibrary.org/obo/HP_0034002 HP:0010053 biolink:PhenotypicFeature Abnormality of the distal phalanx of the hallux UMLS:C4024083 hp.json Abnormality of the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0010053 CHEBI:545959 biolink:ChemicalSubstance homovanillic acid A monocarboxylic acid that is the 3-O-methyl ether of (3,4-dihydroxyphenyl)acetic acid. It is a catecholamine metabolite. KEGG:C05582|CAS:306-08-1|PMID:8353435|CAS:306-08-1|PMID:24007816|MetaCyc:CPD-7651|KNApSAcK:C00029504|PMID:24423636|Wikipedia:Homovanillic_acid|PMID:14688447|PMID:24416192|HMDB:HMDB0000118|Reaxys:2213447 hp.json 2-(4-hydroxy-3-methoxyphenyl)acetic acid|Vanillacetic acid|Homovanillic acid|3-Methoxy-4-hydroxyphenylacetate|(4-hydroxy-3-methoxyphenyl)acetic acid|4-Hydroxy-3-methoxybenzeneacetic acid|3-Methoxy-4-hydroxyphenylacetic acid|HVA http://purl.obolibrary.org/obo/CHEBI_545959 3_STAR HP:0034009 biolink:PhenotypicFeature Pelvic lipomatosis Overgrowth of fat in the perivesical and perirectal area. hp.json http://purl.obolibrary.org/obo/HP_0034009 HP:0034008 biolink:PhenotypicFeature Opto-chiasmatic atrophy Wasting (atrophy) of the optic chiasm. hp.json http://purl.obolibrary.org/obo/HP_0034008 HP:0009077 biolink:PhenotypicFeature Weakness of long finger extensor muscles UMLS:C4024601 hp.json http://purl.obolibrary.org/obo/HP_0009077 GO:0062094 biolink:BiologicalProcess stomach development The process whose specific outcome is the progression of the stomach over time, from its formation to the mature structure. The stomach is an expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. hp.json http://purl.obolibrary.org/obo/GO_0062094 CHEBI:30807 biolink:ChemicalSubstance tetradecanoate A long-chain fatty acid anion that is the conjugate base of myristic acid; major species at pH 7.3. Reaxys:3589340|Gmelin:335122|Beilstein:3589340|KEGG:C06424 hp.json n-tetradecan-1-oate|myristate|Tetradecanoate|1-tetradecanecarboxylate|tetradecanoate|tetradecoate|n-tetradecoate|tetradecanoate|CH3-[CH2]12-COO(-) http://purl.obolibrary.org/obo/CHEBI_30807 3_STAR CHEBI:17822 biolink:ChemicalSubstance serine An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group. Reaxys:1721402|Beilstein:1721402|Wikipedia:Serine|CAS:302-84-1|Gmelin:26429|KNApSAcK:C00001393|CAS:302-84-1|CAS:302-84-1|KEGG:C00716 hp.json 2-Amino-3-hydroxypropionic acid|2-amino-3-hydroxypropanoic acid|serine|Serine|3-Hydroxyalanine|Serin http://purl.obolibrary.org/obo/CHEBI_17822 3_STAR CHEBI:17823 biolink:ChemicalSubstance calcitriol A hydroxycalciol that is calcidiol in which the pro-S hydrogen of calcidiol is replaced by a hydroxy group. It is the active form of vitamin D3, produced fom calciol via hydoxylation in the liver to form calcidiol, which is subsequently oxidised in the kidney to give calcitriol. DrugBank:DB00136|Wikipedia:Calcitriol|PMID:20599255|MetaCyc:CALCITRIOL|PDBeChem:VDX|PMID:10217585|KEGG:D00129|LIPID_MAPS_instance:LMST03020258|PMID:15928596|PMID:6687801|PMID:23144765|PMID:19429426|KEGG:C01673|PMID:22905919|Drug_Central:466|CAS:32222-06-3|Reaxys:2227647|Beilstein:2227647|CAS:32222-06-3|PMID:23103122 hp.json Rocaltrol|1alpha,25-dihydroxyvitamin D3|calcitriol|1-alpha-25-Dihydroxyvitamin D3|1alpha,25-dihydroxycholecalciferol|Decostriol|5-{2-[1-(5-HYDROXY-1,5-DIMETHYL-HEXYL)-7A-METHYL-OCTAHYDRO-INDEN-4-YLIDENE]-ETHYLIDENE}-4-METHYLENE-CYCLOHEXANE-1,3-DIOL|Calcitriol|calcitriol|(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol|(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol|calcitriolum|1,25-DHCC|calcitriol|1alpha,25(OH)2D3|Calcijex|(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol|(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol http://purl.obolibrary.org/obo/CHEBI_17823 3_STAR HP:0000403 biolink:PhenotypicFeature Recurrent otitis media Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. UMLS:C0747085 hp.json Recurrent middle ear infection|Multiple episodes of otitis media|Susceptibility to otitis media|Recurrent episodes of otitis media|Otitis media, recurrent|Frequent otitis media http://purl.obolibrary.org/obo/HP_0000403 HP:0000405 biolink:PhenotypicFeature Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. MSH:D006314|UMLS:C0018777|SNOMEDCT_US:44057004 hp.json Conductive deafness|Conduction deafness|Hearing loss, conductive|Conductive hearing loss http://purl.obolibrary.org/obo/HP_0000405 hposlim_core UBERON:0010498 biolink:AnatomicalEntity pseudostratified columnar epithelium A simple columnar epithelium that looks stratified but is not, because its cells are arranged with their nuclei at different levels. UMLS:C1514590|FMA:45572|NCIT:C49316|UMLS:C0836138|Wikipedia:Pseudostratified_columnar_epithelium|NCIT:C33419 hp.json http://purl.obolibrary.org/obo/UBERON_0010498 HP:0000408 biolink:PhenotypicFeature Progressive sensorineural hearing impairment A progressive form of sensorineural hearing impairment. UMLS:C1843156 hp.json Hearing loss, sensorineural, progressive|Sensorineural hearing loss, progressive|Bilateral progressive sensorineural hearing loss|Hearing loss, progressive sensorineural|Progressive bilateral sensorineural hearing loss|Hearing loss, sensorineural, bilateral, progressive http://purl.obolibrary.org/obo/HP_0000408 HP:0000407 biolink:PhenotypicFeature Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. SNOMEDCT_US:60700002|UMLS:C0018784|MSH:D006319 hp.json Sensorineural hearing loss|Sensorineural deafness|Hearing loss, sensorineural http://purl.obolibrary.org/obo/HP_0000407 hposlim_core UBERON:0010499 biolink:AnatomicalEntity pseudostratified ciliated columnar epithelium Epithelium composed of a single layer of cells, appearing as layered because the column-shaped cells vary in height so the nuclei are at different levels. The basal portions of all the cells are in contact with the basement membrane. It lines the respiratory system and the male reproductive tract. The cilia in the respiratory tract are motile, while the stereocilia in the male reproductive tract are immobile. FMA:13146|UMLS:C0506992|NCIT:C13181 hp.json epithelium pseudostratificatum columnare ciliatum (trachea et bronchi) http://purl.obolibrary.org/obo/UBERON_0010499 HP:0000400 biolink:PhenotypicFeature Macrotia Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). UMLS:C1848570|SNOMEDCT_US:69056000|UMLS:C1850189|UMLS:C0554972|UMLS:C1860838|SNOMEDCT_US:275480001|UMLS:C1855062|UMLS:C1835581|UMLS:C0152421 hp.json Large ears|Large pinnae http://purl.obolibrary.org/obo/HP_0000400 hposlim_core HP:0000402 biolink:PhenotypicFeature Stenosis of the external auditory canal An abnormal narrowing of the external auditory canal. SNOMEDCT_US:300127002|SNOMEDCT_US:301061006|UMLS:C0576860|UMLS:C0395837 hp.json Narrow external auditory meatus|Narrow external auditory canals|External auditory canal stenosis|Narrow ear canal|Narrow auditory canals|Narrowing of passageway from outer ear to middle ear|Stenotic external auditory canal http://purl.obolibrary.org/obo/HP_0000402 hposlim_core UBERON:0009494 biolink:AnatomicalEntity pharyngeal arch mesenchymal region A portion of mesenchymal tissue associated with an individual pharyngeal arch. FMA:295694|EMAPA:32755 hp.json pharyngeal arch mesenchyme|branchial arch mesenchyme|pharyngeal arch mesenchyme http://purl.obolibrary.org/obo/UBERON_0009494 pheno_slim UBERON:0009497 biolink:AnatomicalEntity epithelium of foregut-midgut junction An epithelium that is part of a foregut-midgut junction. EHDAA2:0000573|EMAPA:16564 hp.json http://purl.obolibrary.org/obo/UBERON_0009497 emapa_ehdaa2 GO:0086070 biolink:BiologicalProcess SA node cell to atrial cardiac muscle cell communication The process that mediates interactions between an SA node cardiomyocyte and its surroundings that contributes to the process of the SA node cardiomyocyte communicating with an atrial cardiomyocyte in cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. hp.json sinoatrial node cardiomyocyte to atrial cardiomyocyte communication|SA node cardiomyocyte to atrial cardiomyocyte communication|SA node cardiac muscle cell to atrial cardiac muscle cell communication|sinus node cardiomyocyte to atrial cardiomyocyte communication|SAN cardiomyocyte to atrial cardiomyocyte communication http://purl.obolibrary.org/obo/GO_0086070 UBERON:0009480 biolink:AnatomicalEntity endoderm of buccopharyngeal membrane An endoderm that is part of a buccopharyngeal membrane. EHDAA2:0000191|EMAPA:16261 hp.json http://purl.obolibrary.org/obo/UBERON_0009480 emapa_ehdaa2 UBERON:0009482 biolink:AnatomicalEntity associated mesenchyme of foregut-midgut junction Mesenchyme that is part of a foregut-midgut junction. EHDAA2:0000570|EMAPA:16364 hp.json http://purl.obolibrary.org/obo/UBERON_0009482 emapa_ehdaa2 BSPO:0015101 biolink:NamedThing in dorsal side of X dorsal side of Y <=> if Y is subdivided into two dorsal and ventral portions, X is part of the dorsal portion. BSPO:0015101 hp.json http://purl.obolibrary.org/obo/BSPO_0015101 BSPO:0015102 biolink:NamedThing in ventral side of X ventral side of Y <=> if Y is subdivided into two dorsal and ventral portions, X is part of the ventral portion. BSPO:0015102 hp.json http://purl.obolibrary.org/obo/BSPO_0015102 GO:0086068 biolink:BiologicalProcess Purkinje myocyte to ventricular cardiac muscle cell communication The process that mediates interactions between a Purkinje myocyte and its surroundings that contributes to the process of the Purkinje myocyte communicating with a ventricular cardiac muscle cell in cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. hp.json http://purl.obolibrary.org/obo/GO_0086068 GO:0086067 biolink:BiologicalProcess AV node cell to bundle of His cell communication The process that mediates interactions between an AV node cell and its surroundings that contributes to the process of the AV node cell communicating with a bundle of His cell in cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. hp.json atrioventricular node cell to bundle of His cell communication http://purl.obolibrary.org/obo/GO_0086067 GO:0086065 biolink:BiologicalProcess cell communication involved in cardiac conduction Any process that mediates interactions between a cell and its surroundings that contributes to the process of cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. hp.json http://purl.obolibrary.org/obo/GO_0086065 UBERON:0009483 biolink:AnatomicalEntity mesentery of foregut-midgut junction A mesentery that is part of a foregut-midgut junction. VHOG:0000430|EMAPA:16365|EHDAA2:0000575 hp.json foregut-midgut junction mesentery http://purl.obolibrary.org/obo/UBERON_0009483 emapa_ehdaa2 HP:0012420 biolink:PhenotypicFeature Meconium stained amniotic fluid Amniotic fluid containing the earliest stools of a mammalian infant. UMLS:C0426209|SNOMEDCT_US:168092006|SNOMEDCT_US:249135009 hp.json Meconium-stained amniotic fluid|Meconium staining of amniotic fluid http://purl.obolibrary.org/obo/HP_0012420 HP:0012421 biolink:PhenotypicFeature Congenital absence of foreskin Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis. UMLS:C0577242|SNOMEDCT_US:300519001 hp.json Absent foreskin|Aposthia http://purl.obolibrary.org/obo/HP_0012421 HP:0012422 biolink:PhenotypicFeature Villous hypertrophy of choroid plexus Overgrowth of the choroid plexus. UMLS:C4021089|UMLS:C4020728 hp.json Diffuse villous hypertrophy of choroid plexus|Choroid plexus hypertrophy http://purl.obolibrary.org/obo/HP_0012422 HP:0012423 biolink:PhenotypicFeature Colonic inertia The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days. UMLS:C1257861|MSH:D003248 hp.json http://purl.obolibrary.org/obo/HP_0012423 HP:0012424 biolink:PhenotypicFeature Chorioretinitis An inflammation of the choroid and retina. UMLS:C0008513|MSH:D002825|SNOMEDCT_US:46627006 hp.json http://purl.obolibrary.org/obo/HP_0012424 HP:0012425 biolink:PhenotypicFeature Stercoral ulcer An ulcer of the colon due to pressure and irritation from retained fecal masses. SNOMEDCT_US:38084005|UMLS:C0267491|SNOMEDCT_US:46040000|UMLS:C0333302|SNOMEDCT_US:235766003 hp.json Colon ulcer|Recto-sigmoid colon stercoral ulcer http://purl.obolibrary.org/obo/HP_0012425 HP:0000437 biolink:PhenotypicFeature Depressed nasal tip Decreased distance from the nasal tip to the nasal base. UMLS:C1859717 hp.json Caved in nasal tip|Nasal tip, retruded|Flat tip of nose|Flat nasal tip|Retruded tip of nose|Flattened nasal tip|Depressed tip of nose|Nasal tip, recessed|Depressed nasal tip|Nasal tip, depressed http://purl.obolibrary.org/obo/HP_0000437 hposlim_core HP:0000436 biolink:PhenotypicFeature Abnormality of the nasal tip An abnormality of the nasal tip. UMLS:C4025852 hp.json Deformity of the nasal tip|Malformation of the nasal tip|Deformity of tip of nose|Malformation of tip of nose|Abnormality of tip of nose|Abnormality of the nasal tip http://purl.obolibrary.org/obo/HP_0000436 hposlim_core HP:0000431 biolink:PhenotypicFeature Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root). SNOMEDCT_US:249321001|UMLS:C1839764|UMLS:C1849367 hp.json Nasal bridge broad|Increased width of nasal bridge|Nasal bridge, wide|Increased breadth of bridge of nose|Broad flat nasal bridge|Broad nasal bridge|Wide nasal bridge|Increased width of bridge of nose|Increased breadth of nasal bridge|Broad nasal root|Broadened nasal bridge|Widened nasal bridge|Wide bridge of nose http://purl.obolibrary.org/obo/HP_0000431 HP:0000430 biolink:PhenotypicFeature Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi. UMLS:C1834055 hp.json Hypoplastic alar cartilage|Small nasal alae|Hypoplastic nasal alae|Hypoplastic nasal wings|Hypoplastic alae nasae|Thin hypoplastic alae nasi|Decreased size of nasal alae|Hypoplastic nostrils|Hypoplastic alar nasae|Nasal cartilage hypoplasia|Alar cartilage hypoplasia|Hypoplastic nares|Underdeveloped tissue around nostril|Ala nasi, underdeveloped|Hypoplastic alae nasi http://purl.obolibrary.org/obo/HP_0000430 hposlim_core HP:0000433 biolink:PhenotypicFeature Abnormal nasal mucosa morphology UMLS:C4025854 hp.json Abnormality of mucous membrane of nose|Abnormality of nasal mucous membrane|Abnormality of mucosa of nose|Abnormality of the nasal mucosa http://purl.obolibrary.org/obo/HP_0000433 HP:0000434 biolink:PhenotypicFeature Nasal mucosa telangiectasia Telangiectasia of the nasal mucosa. UMLS:C4025853 hp.json Spider veins of mucous membrane of nose|Telangiectasia of mucous membrane of nose|Spider veins of nasal mucous membrane|Telangiectasia of nasal mucous membrane|Telangiectasia of mucosa of nose|Nasal mucous membrane telangiectasia|Spider veins of mucosa of nose|Angioectasia of mucosa of nose|Angioectasia of mucous membrane of nose|Angioectasia of nasal mucous membrane http://purl.obolibrary.org/obo/HP_0000434 HP:0012426 biolink:PhenotypicFeature Optic disc drusen Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. MSH:D015594|UMLS:C0029128|SNOMEDCT_US:33629003 hp.json Optic nerve head drusen http://purl.obolibrary.org/obo/HP_0012426 HP:0012427 biolink:PhenotypicFeature Increased femoral anteversion An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. UMLS:C4022909 hp.json Increased femoral neck anteversion|Excessive femoral anteversion|Internally rotated hips http://purl.obolibrary.org/obo/HP_0012427 HP:0012428 biolink:PhenotypicFeature Prominent calcaneus Protruding heel bone, or calcaneus. UMLS:C4021088 hp.json Prominent heel bone http://purl.obolibrary.org/obo/HP_0012428 HP:0012429 biolink:PhenotypicFeature Aplasia/Hypoplasia of the cerebral white matter Absence or underdevelopment of the cerebral white matter. UMLS:C4021844 hp.json Absent/underdeveloped cerebral white matter|Absent/small cerebral white matter http://purl.obolibrary.org/obo/HP_0012429 HP:0012410 biolink:PhenotypicFeature Pure red cell aplasia A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. UMLS:C0034902|MSH:D012010|SNOMEDCT_US:50715003 hp.json Red cell aplasia http://purl.obolibrary.org/obo/HP_0012410 HP:0012411 biolink:PhenotypicFeature Premature pubarche The onset of growth of pubic hair at an earlier age than normal. UMLS:C0342541|SNOMEDCT_US:237815000 hp.json Premature pubic hair growth http://purl.obolibrary.org/obo/HP_0012411 HP:0012412 biolink:PhenotypicFeature Premature adrenarche Onset of adrenarche at an earlier age than usual. SNOMEDCT_US:103021001|UMLS:C0342546 hp.json http://purl.obolibrary.org/obo/HP_0012412 HP:0012413 biolink:PhenotypicFeature Notched primary central incisor The presence of a V-shaped indentation (notch) in the primary central incisor. UMLS:C0020186|MSH:D013590|SNOMEDCT_US:86443005|UMLS:C4022912|UMLS:C1444627|SNOMEDCT_US:410500004 hp.json Notched front deciduous tooth|Notched front baby tooth|Notched front primary tooth|Syphilitic primary incisor http://purl.obolibrary.org/obo/HP_0012413 HP:0012414 biolink:PhenotypicFeature Duodenal atrophy Wasting or decrease in size of all or part of the duodenum. UMLS:C4022911 hp.json http://purl.obolibrary.org/obo/HP_0012414 HP:0000448 biolink:PhenotypicFeature Prominent nose Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. UMLS:C0426415|SNOMEDCT_US:249311009|UMLS:C4280629|UMLS:C1400105 hp.json Disproportionately large nose|Prominent nose|Hyperplasia of nose|Increased size of nose|Nasal hyperplasia|Pronounced nose|Large nose|Hypertrophy of nose|Increased nasal size|Nasal hypertrophy|Big nose http://purl.obolibrary.org/obo/HP_0000448 hposlim_core HP:0000447 biolink:PhenotypicFeature Pear-shaped nose UMLS:C1853482 hp.json Pear-shaped nose http://purl.obolibrary.org/obo/HP_0000447 HP:0000444 biolink:PhenotypicFeature Convex nasal ridge Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. UMLS:C0240538 hp.json Hooked nose|Convex dorsum of nose|Beaklike protrusion|Polly beak nasal deformity|Beaked nose|Convex nasal dorsum http://purl.obolibrary.org/obo/HP_0000444 hposlim_core HP:0000446 biolink:PhenotypicFeature Narrow nasal bridge Decreased width of the bony bridge of the nose. UMLS:C4551564 hp.json Pinched nasal bridge|Nasal Bridge, Narrow|Nasal bridge, thin|Narrow bridge of nose|Pinched bridge of nose|Narrow nasal root|Narrow nasal bridge http://purl.obolibrary.org/obo/HP_0000446 hposlim_core HP:0000445 biolink:PhenotypicFeature Wide nose Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. UMLS:C0426421|SNOMEDCT_US:249321001 hp.json Broad nose|Wide nose|Increased breadth of nose|Increased nasal breadth|Increased width of nose|Increased nasal width http://purl.obolibrary.org/obo/HP_0000445 hposlim_core HP:0012415 biolink:PhenotypicFeature Abnormal blood gas level An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. SNOMEDCT_US:312391003|UMLS:C0476337 hp.json Abnormal blood gas level http://purl.obolibrary.org/obo/HP_0012415 HP:0012416 biolink:PhenotypicFeature Hypercapnia Abnormally elevated blood carbon dioxide (CO2) level. UMLS:C0020440|SNOMEDCT_US:29596007|MSH:D006935 hp.json High blood carbon dioxide level|Hypercarbia http://purl.obolibrary.org/obo/HP_0012416 HP:0012417 biolink:PhenotypicFeature Hypocapnia Abnormally reduced blood carbon dioxide (CO2) level. SNOMEDCT_US:61031008|UMLS:C0085383|MSH:D016857 hp.json Reduced carbon dioxide in the blood|Hypocarbia http://purl.obolibrary.org/obo/HP_0012417 HP:0012418 biolink:PhenotypicFeature Hypoxemia An abnormally low level of blood oxygen. UMLS:C0700292|SNOMEDCT_US:389087006|MSH:D000860 hp.json Hypoxia|Low blood oxygen level http://purl.obolibrary.org/obo/HP_0012418 HP:0012419 biolink:PhenotypicFeature Hyperoxemia An abnormally high level of blood oxygen. UMLS:C4022910 hp.json http://purl.obolibrary.org/obo/HP_0012419 CHEBI:78804 biolink:ChemicalSubstance Caenorhabditis elegans metabolite A nematode metabolite produced by Caenorhabditis elegans. hp.json C. elegans metabolites|Caenorhabditis elegans metabolites|C. elegans metabolite http://purl.obolibrary.org/obo/CHEBI_78804 3_STAR CHEBI:78803 biolink:ChemicalSubstance nematode metabolite An animal metabolite produced by any member of the phylum Nematoda. hp.json nematode metabolites http://purl.obolibrary.org/obo/CHEBI_78803 3_STAR HP:0012400 biolink:PhenotypicFeature Abnormal aldolase level An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. UMLS:C4022916 hp.json http://purl.obolibrary.org/obo/HP_0012400 HP:0012401 biolink:PhenotypicFeature Abnormal urine alpha-ketoglutarate concentration A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. UMLS:C4020902 hp.json Abnormal urinary 2-oxoglutarate level|Abnormality of urine alpha ketoglutarate concentration http://purl.obolibrary.org/obo/HP_0012401 HP:0012402 biolink:PhenotypicFeature Increased urine alpha-ketoglutarate concentration A greater than normal concentration of 2-oxoglutaric acid in the urine. UMLS:C4022915 hp.json Elevated urinary 2-oxoglutarate|Increased urine alpha-ketoglutarate concentration http://purl.obolibrary.org/obo/HP_0012402 HP:0012403 biolink:PhenotypicFeature Decreased urine alpha-ketoglutarate concentration A lower than normal concentration of 2-oxoglutaric acid in the urine. UMLS:C4022914 hp.json Decreased urinary 2-oxoglutarate http://purl.obolibrary.org/obo/HP_0012403 HP:0000415 biolink:PhenotypicFeature Abnormality of the choanae Abnormality of the choanae (the posterior nasal apertures). UMLS:C4025855 hp.json http://purl.obolibrary.org/obo/HP_0000415 HP:0000414 biolink:PhenotypicFeature Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose. UMLS:C1834118|UMLS:C1855751|MSH:C538354|UMLS:C0240543 hp.json Bulbous nose|Bulbous nasal tip|Potato nose http://purl.obolibrary.org/obo/HP_0000414 HP:0000417 biolink:PhenotypicFeature Slender nose UMLS:C1857645 hp.json Slender nose http://purl.obolibrary.org/obo/HP_0000417 HP:0000419 biolink:PhenotypicFeature Abnormality of the nasal septum An abnormality of the nasal septum. SNOMEDCT_US:95433000|UMLS:C0151790 hp.json Anomaly of septum of nose|Anomaly of nasal septum|Abnormality of the nasal septum|Abnormality of septum of nose http://purl.obolibrary.org/obo/HP_0000419 hposlim_core HP:0000418 biolink:PhenotypicFeature Narrow nasal ridge Decreased width of the nasal ridge. UMLS:C1837761 hp.json Thin nasal dorsum|Narrow nasal dorsum|Decreased width of nasal dorsum|Decreased width of nasal ridge|Narrow nasal ridge|Thin dorsum of nose|Thin nasal ridge|Narrow dorsum of nose|Decreased width of dorsum of nose|Pinched nose http://purl.obolibrary.org/obo/HP_0000418 HP:0000411 biolink:PhenotypicFeature Protruding ear Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). UMLS:C1305420|UMLS:C1855285|SNOMEDCT_US:275478007 hp.json Prominent ear|Protruding ears|Prominent ears http://purl.obolibrary.org/obo/HP_0000411 HP:0000410 biolink:PhenotypicFeature Mixed hearing impairment A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. UMLS:C0155552|SNOMEDCT_US:77507001|MSH:D046089 hp.json Mixed hearing loss|Hearing loss, mixed|Mixed hearing impairment http://purl.obolibrary.org/obo/HP_0000410 HP:0000413 biolink:PhenotypicFeature Atresia of the external auditory canal Absence or failure to form of the external auditory canal. UMLS:C1866190|UMLS:C1857079|UMLS:C1398325|UMLS:C1840305 hp.json Auditory canal atresia|External auditory meatal atresia|External acoustic meatus atresia|Absent auditory canals|Atretic auditory canals|Atretic external auditory canal|Absent ear canal|Atresia of the external auditory canals|Atretic external auditory canals|External auditory canal atresia|Absent external auditory canals|External auditory meatus atresia|Atretic auditory canal http://purl.obolibrary.org/obo/HP_0000413 hposlim_core HP:0012404 biolink:PhenotypicFeature Abnormal urine citrate concentration A deviation from normal of the concentration of citrate(3-) in the urine. UMLS:C4022913 hp.json Abnormal urine citrate concentration|Abnormal urine citric acid concentration http://purl.obolibrary.org/obo/HP_0012404 HP:0012405 biolink:PhenotypicFeature Hypocitraturia A lower than normal concentration of citrate(3-) in the urine. UMLS:C2673444 hp.json Decreased urine citrate concentration http://purl.obolibrary.org/obo/HP_0012405 HP:0012406 biolink:PhenotypicFeature Hypercitraturia A greater than normal concentration of citrate(3-) in the urine. UMLS:C4021090 hp.json Increased urine citrate concentration http://purl.obolibrary.org/obo/HP_0012406 HP:0012407 biolink:PhenotypicFeature Scissor gait A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. UMLS:C0231698|SNOMEDCT_US:22090007|MSH:D020233 hp.json Scissor walk|Scissor gait|Scissors gait http://purl.obolibrary.org/obo/HP_0012407 HP:0012408 biolink:PhenotypicFeature Medullary nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). SNOMEDCT_US:236447005|UMLS:C0403477 hp.json http://purl.obolibrary.org/obo/HP_0012408 HP:0012409 biolink:PhenotypicFeature Cortical nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). SNOMEDCT_US:236446001|UMLS:C0403476 hp.json http://purl.obolibrary.org/obo/HP_0012409 HP:0000426 biolink:PhenotypicFeature Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age. UMLS:C1854113|UMLS:C4230640 hp.json Elevated nasal bridge|Convex nasal bridge|Prominent nasal root|Prominent bridge of nose|Protruding bridge of nose|High nasal bridge|Convex bridge of nose|Prominent nasal bridge|Protruding nasal bridge http://purl.obolibrary.org/obo/HP_0000426 HP:0000429 biolink:PhenotypicFeature Abnormality of the nasal alae An abnormality of the Ala of nose. UMLS:C4021804|UMLS:C4280632|UMLS:C4280631|UMLS:C2227020 hp.json Deformity of the nasal alar cartilage|Malformation of the nasal alar cartilage|Abnormality of the nasal alar cartilage|Abnormality of the nasal ala|Deformity of the nasal ala|Malformation of the nasal ala http://purl.obolibrary.org/obo/HP_0000429 hposlim_core HP:0000420 biolink:PhenotypicFeature Short nasal septum Reduced superior to inferior length of the nasal septum. UMLS:C1844857 hp.json Short septum of nose|Decreased length of nasal septum|Short nasal septum|Decreased length of septum of nose http://purl.obolibrary.org/obo/HP_0000420 hposlim_core HP:0000422 biolink:PhenotypicFeature Abnormal nasal bridge morphology Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. UMLS:C4021805 hp.json Abnormality of the bridge of the nose|Abnormality of the nasal root|Abnormality of the nasal bridge|Malformation of the bridge of the nose|Deformity of the bridge of the nose|Deformity of the nasal bridge|Malformation of the nasal bridge http://purl.obolibrary.org/obo/HP_0000422 hposlim_core HP:0000421 biolink:PhenotypicFeature Epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. ICD10:R04.0|SNOMEDCT_US:12441001|EFO:0003895|SNOMEDCT_US:249366005|UMLS:C0014591|ICD9:784.7|MSH:D004844|COHD:318556|NCIT:C26766 hp.json Nose bleed|Frequent nosebleeds|Nasal hemorrhage|Nasal haemorrhage|Nosebleed|Nose bleeding|Bloody nose http://purl.obolibrary.org/obo/HP_0000421 CL:0000765 biolink:Cell erythroblast A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. BTO:0001571|CALOHA:TS-0289|FMA:83504 hp.json normoblast http://purl.obolibrary.org/obo/CL_0000765 CL:0000766 biolink:Cell myeloid leukocyte A cell of the monocyte, granulocyte, or mast cell lineage. hp.json http://purl.obolibrary.org/obo/CL_0000766 CL:0000767 biolink:Cell basophil Any of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A basophil is CD123-positive, CD193-positive, CD203c-positive, and FceRIa-positive. BTO:0000129|CALOHA:TS-0073|FMA:62862 hp.json basophilic leukocyte|polymorphonuclear leucocyte|basophilic leucocyte|polymorphonuclear leukocyte http://purl.obolibrary.org/obo/CL_0000767 UBERON:0010421 biolink:AnatomicalEntity spleen B cell corona The area of the (spleen) secondary B follicle that surrounds the germinal center and harbors the small recirculating B lymphocytes. EMAPA:37962 hp.json B cell domain of the spleen|spleen lymphocytic corona|splenic B cell corona|spleen B-cell corona|spleen B cell corona|splenic corona|spleen mantle zone|follicle mantle|B lymphocyte domain of the spleen|lymphocytic corona http://purl.obolibrary.org/obo/UBERON_0010421 pheno_slim|human_reference_atlas UBERON:0010422 biolink:AnatomicalEntity primary nodular lymphoid tissue A lymphoid follicle containing naive B cells. FMA:55223 hp.json primary lymphoid follicle|primary lymphoid nodule|primary follicle http://purl.obolibrary.org/obo/UBERON_0010422 GO:0062013 biolink:BiologicalProcess positive regulation of small molecule metabolic process Any process that activates or increases the frequency, rate or extent of a small molecule metabolic process. hp.json positive regulation of small molecule metabolism http://purl.obolibrary.org/obo/GO_0062013 UBERON:0010420 biolink:AnatomicalEntity lymph node germinal center mantle zone A part of the secondary follicle in which naive B cells reside along with some helper T cells, macrophages and follicular dendritic cells; these are displaced by the expanding germinal centre and form a 'mantle' around it. MA:0002990|EMAPA:37661 hp.json lymph node follicular mantle|lymph node follicular corona|germinal center mantle zone|mantle zone of lymph node germinal center|lymph node inactive zone|lymph node dark zone|lymph node peripheral zone|mantle zone of germinal center|lymph node B cell corona http://purl.obolibrary.org/obo/UBERON_0010420 pheno_slim|human_reference_atlas GO:0062012 biolink:BiologicalProcess regulation of small molecule metabolic process Any process that modulates the rate, frequency or extent of a small molecule metabolic process. hp.json regulation of small molecule metabolism http://purl.obolibrary.org/obo/GO_0062012 GO:0062014 biolink:BiologicalProcess negative regulation of small molecule metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of a small molecule metabolic process. hp.json negative regulation of small molecule metabolism http://purl.obolibrary.org/obo/GO_0062014 UBERON:0010412 biolink:AnatomicalEntity epididymal fat pad Encapsulated adipose tissue associated with the epididymis. MA:0002550|EMAPA:35316 hp.json periepididymal fat pad http://purl.obolibrary.org/obo/UBERON_0010412 pheno_slim UBERON:0010418 biolink:AnatomicalEntity urethral opening An orifice that is part of a lower urinary tract. MA:0002867|EMAPA:35965 hp.json urethral orifice http://purl.obolibrary.org/obo/UBERON_0010418 pheno_slim CL:0000763 biolink:Cell myeloid cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. CALOHA:TS-0647|BTO:0001441 hp.json http://purl.obolibrary.org/obo/CL_0000763 UBERON:0010416 biolink:AnatomicalEntity lymph node B cell domain A part of the lymph node cortex in which B lymphocytes home to primary follicles to survey follicular dendritic cells (FDCs); antigen stimulated B cells proliferate and differentiate within the follicles forming distinctive germinal centers. MA:0002851 hp.json nodular lymph node cortex|lymph node B-cell domain|lymph node B cell dependent cortex http://purl.obolibrary.org/obo/UBERON_0010416 pheno_slim UBERON:0010417 biolink:AnatomicalEntity lymph node T cell domain The paracortex and interfollicular cortex of the lymph node in which T lymphocytes home to survey dendritic cells. MA:0002852|EMAPA:37663 hp.json T cell zone of lymph node|lymph node T zone|T zone of lymph node|lymph node T-cell domain|lymph node deep cortex|lymph node T cell dependent paracortex http://purl.obolibrary.org/obo/UBERON_0010417 pheno_slim CL:0000764 biolink:Cell erythroid lineage cell A immature or mature cell in the lineage leading to and including erythrocytes. CALOHA:TS-0290|FMA:83516|FMA:62845 hp.json erythropoietic cell http://purl.obolibrary.org/obo/CL_0000764 GO:0003723 biolink:MolecularActivity RNA binding Binding to an RNA molecule or a portion thereof. Reactome:R-HSA-203922 hp.json base pairing with RNA|poly-A RNA binding|poly(A)-RNA binding|poly(A) RNA binding http://purl.obolibrary.org/obo/GO_0003723 goslim_plant|goslim_flybase_ribbon|goslim_drosophila|goslim_aspergillus|goslim_chembl|goslim_mouse|goslim_yeast|goslim_candida|goslim_agr|goslim_generic CHEBI:27247 biolink:ChemicalSubstance urocanate An monocarboxylic acid anion that is the conjugate base of urocanic acid. MetaCyc:UROCANATE|KEGG:C00785|ECMDB:ECMDB21396 hp.json 3-(1H-imidazol-4-yl)prop-2-enoate|urocanate http://purl.obolibrary.org/obo/CHEBI_27247 3_STAR CHEBI:88184 biolink:ChemicalSubstance metal allergen Any metal which causes the onset of an allergic reaction. hp.json allergenic metal|allergenic metals|metal allergens http://purl.obolibrary.org/obo/CHEBI_88184 3_STAR CHEBI:27248 biolink:ChemicalSubstance urocanic acid An alpha,beta-unsaturated monocarboxylic acid that is prop-2-enoic acid substituted by a 1H-imidazol-4-yl group at position 3. It is a metabolite of hidtidine. HMDB:HMDB0000301|PMID:11669511|MetaCyc:UROCANATE|Beilstein:8128219|Wikipedia:Urocanic_acid|Reaxys:8128219|ECMDB:ECMDB21396|CAS:104-98-3|PMID:24397532|PMID:24627570|PDBeChem:URO hp.json 3-(1H-imidazol-4-yl)-2-propenoic acid|3-imidazol-4-ylacrylic acid|3-(1H-imidazol-4-yl)prop-2-enoic acid http://purl.obolibrary.org/obo/CHEBI_27248 3_STAR CHEBI:88188 biolink:ChemicalSubstance drug allergen Any drug which causes the onset of an allergic reaction. hp.json allergenic drug http://purl.obolibrary.org/obo/CHEBI_88188 3_STAR CL:0000778 biolink:Cell mononuclear osteoclast A specialized mononuclear osteoclast associated with the absorption and removal of bone, precursor of multinuclear osteoclasts. hp.json http://purl.obolibrary.org/obo/CL_0000778 CL:0000779 biolink:Cell multinuclear osteoclast A specialized multinuclear osteoclast associated with the absorption and removal of bone. hp.json multinucleated osteoclast http://purl.obolibrary.org/obo/CL_0000779 UBERON:0010411 biolink:AnatomicalEntity retroperitoneal fat pad Encapsulated adipose tissue found on the dorsal side of the peritoneum. MA:0002549 hp.json retroperitoneal fat depot http://purl.obolibrary.org/obo/UBERON_0010411 pheno_slim UBERON:0010402 biolink:AnatomicalEntity epidermis suprabasal layer Any layer of the epidermis that is superior to the stratum basale. MA:0000808|EMAPA:35315 hp.json suprabasal layer|suprabasal layer of epidermis|suprabasal cell layer of skin http://purl.obolibrary.org/obo/UBERON_0010402 pheno_slim CL:0000771 biolink:Cell eosinophil Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive. FMA:62861|BTO:0000399|CALOHA:TS-0279 hp.json eosinocyte|polymorphonuclear leucocyte|eosinophilic leucocyte|polymorphonuclear leukocyte|eosinophilic granulocyte|eosinophilic leukocyte http://purl.obolibrary.org/obo/CL_0000771 UBERON:0010408 biolink:AnatomicalEntity ocular angle artery The angular artery is the terminal part of the facial artery; it ascends to the medial angle of the eye's orbit, imbedded in the fibers of the angular head of the Quadratus labii superioris, and accompanied by the angular vein. UMLS:C0226116|FMA:49583|MA:0002010|NCIT:C32076|EMAPA:37673 hp.json angular artery http://purl.obolibrary.org/obo/UBERON_0010408 human_reference_atlas CL:0000775 biolink:Cell neutrophil Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. FMA:62860|CALOHA:TS-0688|BTO:0000130 hp.json polynuclear neutrophilic leukocyte|neutrocyte|polymorphonuclear leucocyte|neutrophilic leucocyte|PMN|neutrophil leukocyte|polynuclear neutrophilic leucocyte|poly|polymorphonuclear neutrophil|neutrophilic leukocyte|polymorphonuclear leukocyte|neutrophil leucocyte http://purl.obolibrary.org/obo/CL_0000775 UBERON:0010409 biolink:AnatomicalEntity ocular surface region The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. EMAPA:35336|MA:0002486 hp.json ocular surface|eye surface|eye surface region http://purl.obolibrary.org/obo/UBERON_0010409 pheno_slim CHEBI:17893 biolink:ChemicalSubstance (2R)-2-hydroxy monocarboxylic acid A 2-hydroxy monocarboxylic acid having (2R)-configuration. KEGG:C02489|KEGG:C15487 hp.json (2R)-2-hydroxy monocarboxylic acids|(R)-2-Hydroxyacid|(R)-2-Hydroxycarboxylic acid|(2R)-Hydroxy-carboxylate http://purl.obolibrary.org/obo/CHEBI_17893 3_STAR CHEBI:17891 biolink:ChemicalSubstance donor A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. KEGG:C01351 hp.json Donor|Donator|donneur http://purl.obolibrary.org/obo/CHEBI_17891 3_STAR CHEBI:27216 biolink:ChemicalSubstance urate(2-) hp.json urate dianion http://purl.obolibrary.org/obo/CHEBI_27216 3_STAR CL:0000745 biolink:Cell retina horizontal cell A neuron that laterally connects other neurons in the inner nuclear layer of the retina. BTO:0004120 hp.json horizontal cell http://purl.obolibrary.org/obo/CL_0000745 CL:0000746 biolink:Cell cardiac muscle cell Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei. FMA:14067|BTO:0001539|CALOHA:TS-0115 hp.json cardiocyte|cardiac muscle fiber|heart muscle cell|cardiac myocyte|cardiomyocyte http://purl.obolibrary.org/obo/CL_0000746 GO:1904457 biolink:BiologicalProcess positive regulation of neuronal action potential Any process that activates or increases the frequency, rate or extent of neuronal action potential. hp.json activation of neuronal action potential|positive regulation of generation of action potential|up regulation of generation of action potential|upregulation of neuronal action potential|up-regulation of generation of action potential|up-regulation of neuronal action potential|activation of generation of action potential|upregulation of generation of action potential|up regulation of neuronal action potential http://purl.obolibrary.org/obo/GO_1904457 GO:0062033 biolink:BiologicalProcess positive regulation of mitotic sister chromatid segregation Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis. hp.json http://purl.obolibrary.org/obo/GO_0062033 CL:0000748 biolink:Cell retinal bipolar neuron A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the inner plexiform layer. hp.json http://purl.obolibrary.org/obo/CL_0000748 UBERON:0010400 biolink:AnatomicalEntity spleen trabecular vein One of the veins that feed the splenic vein. MA:0000760|NCIT:C49779|UMLS:C1710160 hp.json trabecular vein http://purl.obolibrary.org/obo/UBERON_0010400 pheno_slim|human_reference_atlas GO:1904456 biolink:BiologicalProcess negative regulation of neuronal action potential Any process that stops, prevents or reduces the frequency, rate or extent of neuronal action potential. hp.json inhibition of generation of action potential|down-regulation of neuronal action potential|downregulation of generation of action potential|down regulation of neuronal action potential|inhibition of neuronal action potential|down regulation of generation of action potential|downregulation of neuronal action potential|down-regulation of generation of action potential|negative regulation of generation of action potential http://purl.obolibrary.org/obo/GO_1904456 CL:0000740 biolink:Cell retinal ganglion cell The set of neurons that receives neural inputs via bipolar, horizontal and amacrine cells. The axons of these cells make up the optic nerve. BTO:0001800|FMA:67765 hp.json RGC|ganglion cell of retina|gangliocyte http://purl.obolibrary.org/obo/CL_0000740 CL:4028001 biolink:Cell pulmonary capillary endothelial cell Any capillary endothelial cell that is part of a lung. hp.json lung capillary endothelial cell http://purl.obolibrary.org/obo/CL_4028001 CHEBI:30861 biolink:ChemicalSubstance methylmalonate(1-) A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxylic acid groups of methylmalonic acid. Beilstein:5499681|Reaxys:5499681|Gmelin:142213 hp.json 2-carboxypropanoate http://purl.obolibrary.org/obo/CHEBI_30861 3_STAR CHEBI:30860 biolink:ChemicalSubstance methylmalonic acid A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group. PMID:15770414|CAS:516-05-2|KEGG:C02170|Gmelin:50008|PMID:22233538|CAS:516-05-2|PMID:22104738|PMID:22422209|PMID:22332180|CAS:516-05-2|LIPID_MAPS_instance:LMFA01170118|PMID:22770225|PMID:21802231|MetaCyc:CPD-546|PMID:21652239|PMID:22377700|PMID:22301932|PMID:11673368|PMID:22537172|PDBeChem:DXX|PMID:17190852|PMID:22509143|PMID:21687976|Wikipedia:Methylmalonic_acid|PMID:22424943|Beilstein:1756084|PMID:21896502|Reaxys:1756084|DrugBank:DB04183|PMID:21748409|PMID:21478039|HMDB:HMDB0000202 hp.json methylpropanedioic acid|2-methylmalonic acid|Isosuccinic acid|alpha-methylmalonic acid|Methylmalonic acid|METHYLMALONIC ACID|1,1-Ethanedicarboxylic acid http://purl.obolibrary.org/obo/CHEBI_30860 3_STAR CHEBI:30879 biolink:ChemicalSubstance alcohol A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. KEGG:C00069 hp.json an alcohol|Alcohol|alcohols http://purl.obolibrary.org/obo/CHEBI_30879 3_STAR CHEBI:29888 biolink:ChemicalSubstance diphosphoric acid An acyclic phosphorus acid anhydride obtained by condensation of two molecules of phosphoric acid. DrugBank:DB04160|ECMDB:ECMDB04142|Gmelin:82619|KNApSAcK:C00019561|CAS:2466-09-3|PMID:6291941|CAS:2466-09-3|CAS:2466-09-3|Reaxys:3942075|PDBeChem:PPV|KEGG:C00013 hp.json H4P2O7|[(HO)2P(O)OP(O)(OH)2]|Diphosphoric acid|Pyrophosphate|mu-oxido-bis(dihydroxidooxidophosphorus)|Pyrophosphorsaeure|1,5-dihydrido-2,4-dihydroxido-2,4-dioxido-1,3,5-trioxy-2,4-diphosphy-[5]catena|Pyrophosphoric acid|Diphosphorsaeure|acide diphosphorique|PYROPHOSPHATE|diphosphoric acid http://purl.obolibrary.org/obo/CHEBI_29888 3_STAR CHEBI:27226 biolink:ChemicalSubstance uric acid An oxopurine that is the final oxidation product of purine metabolism. HMDB:HMDB0000289|Wikipedia:Uric_acid hp.json uric acids http://purl.obolibrary.org/obo/CHEBI_27226 3_STAR NCBITaxon:3312 biolink:OrganismalEntity Coniferophyta GC_ID:1 hp.json conifers http://purl.obolibrary.org/obo/NCBITaxon_3312 GO:0062023 biolink:CellularComponent collagen-containing extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. hp.json http://purl.obolibrary.org/obo/GO_0062023 GO:0003707 biolink:MolecularActivity nuclear steroid receptor activity Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function. hp.json steroid hormone receptor activity http://purl.obolibrary.org/obo/GO_0003707 CHEBI:30848 biolink:ChemicalSubstance urate(1-) CAS:3106-08-9 hp.json uric acid, ion(1-)|uric acid monoanion|7,9-dihydro-1H-purine-2,6,8(3H)-trione, ion(1-) http://purl.obolibrary.org/obo/CHEBI_30848 3_STAR HGNC:1437 biolink:Gene CALCA (human) A protein coding gene CALCA in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1437 UBERON:0009471 biolink:AnatomicalEntity dorsum of tongue The superior surface of the tongue divided by the sulcus terminalis into an anterior two-thirds, the presulcal part (pars presulcalis). and a posterior one-third, the postsulcal part (pars postsulcalis). UMLS:C0226952|NCIT:C32482|FMA:54651|SCTID:66938003 hp.json dorsum linguae|dorsum linguae|tongue dorsum|dorsal tongue http://purl.obolibrary.org/obo/UBERON_0009471 CL:0000723 biolink:Cell somatic stem cell A stem cell that can give rise to cell types of the body other than those of the germ-line. CALOHA:TS-2086|FMA:63368 hp.json http://purl.obolibrary.org/obo/CL_0000723 GO:0086019 biolink:BiologicalProcess cell-cell signaling involved in cardiac conduction Any process that mediates the transfer of information from one cell to another and contributes to the heart process that regulates cardiac muscle contraction; beginning with the generation of an action potential in the sinoatrial node and ending with regulation of contraction of the myocardium. hp.json cell-cell signalling involved in cardiac conduction http://purl.obolibrary.org/obo/GO_0086019 GO:1904479 biolink:BiologicalProcess negative regulation of intestinal absorption Any process that stops, prevents or reduces the frequency, rate or extent of intestinal absorption. hp.json down regulation of intestinal absorption|downregulation of intestinal absorption|inhibition of intestinal absorption|down-regulation of intestinal absorption http://purl.obolibrary.org/obo/GO_1904479 GO:0086018 biolink:BiologicalProcess SA node cell to atrial cardiac muscle cell signaling Any process that mediates the transfer of information from an SA node cardiomyocyte to an atrial cardiomyocyte. hp.json sinoatrial node cardiomyocyte to atrial cardiomyocyte signalling|sinus node cardiomyocyte to atrial cardiomyocyte signalling|SAN cardiomyocyte to atrial cardiomyocyte signalling|SA node cardiac muscle cell to atrial cardiac muscle cell signalling|SA node cardiomyocyte to atrial cardiomyocyte signalling http://purl.obolibrary.org/obo/GO_0086018 GO:1904478 biolink:BiologicalProcess regulation of intestinal absorption Any process that modulates the frequency, rate or extent of intestinal absorption. hp.json http://purl.obolibrary.org/obo/GO_1904478 GO:0086017 biolink:BiologicalProcess Purkinje myocyte action potential An action potential that occurs in a Purkinje myocyte. hp.json http://purl.obolibrary.org/obo/GO_0086017 GO:0086016 biolink:BiologicalProcess AV node cell action potential An action potential that occurs in an atrioventricular node cardiac muscle cell. hp.json atrioventricular node cardiac muscle cell action potential|AV node cardiac muscle cell action potential http://purl.obolibrary.org/obo/GO_0086016 GO:0086015 biolink:BiologicalProcess SA node cell action potential An action potential that occurs in a sinoatrial node cardiac muscle cell. hp.json SA node cardiac muscle cell action potential|sinoatrial node cardiac muscle cell action potential|sinus node cardiac muscle cell action potential|SAN cardiac muscle cell action potential http://purl.obolibrary.org/obo/GO_0086015 GO:1904484 biolink:BiologicalProcess cloacal gland development The process whose specific outcome is the progression of a cloacal gland over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_1904484 GO:1904480 biolink:BiologicalProcess positive regulation of intestinal absorption Any process that activates or increases the frequency, rate or extent of intestinal absorption. hp.json up-regulation of intestinal absorption|up regulation of intestinal absorption|activation of intestinal absorption|upregulation of intestinal absorption http://purl.obolibrary.org/obo/GO_1904480 UBERON:0009472 biolink:AnatomicalEntity axilla The axilla is the area directly under the joint where the forelimb connects to the shoulder. NCIT:C12674|MESH:D001365|CALOHA:TS-2208|UMLS:C0004454|FMA:24864|EFO:0001395|galen:Axilla hp.json axillary region|axillary region|arm pit|oxter|regio axillaris|axillae|armpit|armpits|underarm|axilla http://purl.obolibrary.org/obo/UBERON_0009472 pheno_slim|efo_slim UBERON:0009477 biolink:AnatomicalEntity associated mesenchyme of otic placode Mesenchyme that is part of a otic placode. EMAPA:16196|EHDAA2:0001340 hp.json http://purl.obolibrary.org/obo/UBERON_0009477 emapa_ehdaa2 UBERON:0009479 biolink:AnatomicalEntity ectoderm of buccopharyngeal membrane An ectoderm that is part of a buccopharyngeal membrane. EMAPA:16260|EHDAA2:0000190 hp.json http://purl.obolibrary.org/obo/UBERON_0009479 emapa_ehdaa2 CHEBI:27207 biolink:ChemicalSubstance univalent carboacyl group A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. hp.json univalent acyl group|univalent carboxylic acyl groups|univalent carboacyl groups http://purl.obolibrary.org/obo/CHEBI_27207 3_STAR CHEBI:27208 biolink:ChemicalSubstance unsaturated fatty acid Any fatty acid containing at least one C=C or C#C bond. LIPID_MAPS_class:LMFA0103|PMID:5322381 hp.json alkene acid|olefinic acid|unsaturated fatty acids|unsaturated fatty acids http://purl.obolibrary.org/obo/CHEBI_27208 3_STAR CL:0000737 biolink:Cell striated muscle cell Muscle cell which has as its direct parts myofilaments organized into sarcomeres. CALOHA:TS-2157|BTO:0002916|FMA:86936 hp.json http://purl.obolibrary.org/obo/CL_0000737 CL:0000738 biolink:Cell leukocyte An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. FMA:62852|CALOHA:TS-0549|BTO:0000751 hp.json white blood cell|immune cell|leucocyte http://purl.obolibrary.org/obo/CL_0000738 CHEBI:17859 biolink:ChemicalSubstance glutaric acid An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid. CAS:110-94-1|DrugBank:DB03553|Gmelin:26809|KEGG:C00489|PMID:24587932|CAS:110-94-1|CAS:110-94-1|PMID:24900967|PDBeChem:GUA|KNApSAcK:C00001184|PMID:24297153|LIPID_MAPS_instance:LMFA01170046|Wikipedia:Glutaric_acid|Beilstein:1209725|HMDB:HMDB0000661|Reaxys:1209725 hp.json Pentanedioic acid|1,3-Propanedicarboxylic acid|1,5-pentanedioic acid|Glutaric acid|pentanedioic acid|Glutarsaeure|GLUTARIC ACID http://purl.obolibrary.org/obo/CHEBI_17859 3_STAR GO:0086001 biolink:BiologicalProcess cardiac muscle cell action potential An action potential that occurs in a cardiac muscle cell. hp.json http://purl.obolibrary.org/obo/GO_0086001 CHEBI:17855 biolink:ChemicalSubstance triglyceride Any glyceride resulting from the condensation of all three hydroxy groups of glycerol (propane-1,2,3-triol) with fatty acids. KEGG:C00422|PMID:2474544|LIPID_MAPS_class:LMGL0301 hp.json Triglyceride|a triacylglycerol|Triglyzerid|triacylglycerols|Triglycerid|triglycerides|triglycerides|Triacylglycerol http://purl.obolibrary.org/obo/CHEBI_17855 3_STAR GO:1904491 biolink:BiologicalProcess protein localization to ciliary transition zone A process in which a protein is transported to, or maintained in, a location within a ciliary transition zone. hp.json protein localization in ciliary transition zone|protein localisation to ciliary transition zone|protein localisation in ciliary transition zone http://purl.obolibrary.org/obo/GO_1904491 OIO:hasDbXref biolink:NamedThing database_cross_reference hp.json http://www.geneontology.org/formats/oboInOwl#hasDbXref UBERON:0010437 biolink:AnatomicalEntity zygomaticus muscle One of: zygomaticus major, zygomaticus minor. EMAPA:37703|UMLS:C1710708|NCIT:C53182|MA:0002404 hp.json m. zygomaticus|zygomaticus|m. levator nasii http://purl.obolibrary.org/obo/UBERON_0010437 grouping_class HGNC:10848 biolink:Gene SHH (human) A protein coding gene SHH in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10848 CHEBI:17883 biolink:ChemicalSubstance hydrogen chloride A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms. KEGG:D02057|PMID:15823700|Gmelin:322|CAS:7647-01-0|CAS:7647-01-0|PMID:17492841|Wikipedia:Hydrochloric_acid|KEGG:C01327|Drug_Central:4568|PMID:22804993|MetaCyc:HCL|Wikipedia:HCl|HMDB:HMDB0002306|Reaxys:1098214|CAS:7647-01-0 hp.json [HCl]|HCl|Hydrochloride|Hydrogenchlorid|hydrogen chloride|chlorane|chlorure d'hydrogene|Wasserstoffchlorid|hydrochloric acid|Chlorwasserstoff|Hydrogen chloride|chloridohydrogen|cloruro de hidrogeno http://purl.obolibrary.org/obo/CHEBI_17883 3_STAR CL:0000710 biolink:Cell neurecto-epithelial cell Epithelial cells derived from neural plate and neural crest. BTO:0004301|FMA:70557 hp.json neuroepithelial cell http://purl.obolibrary.org/obo/CL_0000710 CL:0000712 biolink:Cell stratum granulosum cell hp.json http://purl.obolibrary.org/obo/CL_0000712 GO:0086029 biolink:BiologicalProcess Purkinje myocyte to ventricular cardiac muscle cell signaling Any process that mediates the transfer of information from a Purkinje myocyte to a ventricular cardiac muscle cell. hp.json Purkinje myocyte to ventricular cardiac muscle cell signalling http://purl.obolibrary.org/obo/GO_0086029 CHEBI:30839 biolink:ChemicalSubstance orotate CAS:73-97-2|Gmelin:464718|Beilstein:3651747 hp.json orotate|2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carboxylate http://purl.obolibrary.org/obo/CHEBI_30839 3_STAR GO:0086027 biolink:BiologicalProcess AV node cell to bundle of His cell signaling Any process that mediates the transfer of information from an AV node cardiac muscle cell to a bundle of His cardiomyocyte. hp.json atrioventricular node to bundle of His cell signaling|AV node cell to bundle of His cell signalling http://purl.obolibrary.org/obo/GO_0086027 UBERON:0010425 biolink:AnatomicalEntity internal naris A naris that is located inside the nasal cavity and connects to the pharynx. NCIT:C32856 hp.json choanae|internal choana|internal nares|internal nostril|choana http://purl.obolibrary.org/obo/UBERON_0010425 pheno_slim UBERON:0010423 biolink:AnatomicalEntity primary lymphoid nodule of tonsil A primary nodular lymphoid tissue that is part of a tonsil. FMA:86018 hp.json lymphoid nodule of tonsil http://purl.obolibrary.org/obo/UBERON_0010423 UBERON:0010424 biolink:AnatomicalEntity distal segment of rib MA:0001397|MA:0001418|EMAPA:37492 hp.json distal rib segment|vertical segment of rib|distal part of rib|sternal rib|distal rib http://purl.obolibrary.org/obo/UBERON_0010424 UBERON:0010427 biolink:AnatomicalEntity ciliary processes The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. SCTID:280860001|FMA:76551|Wikipedia:Ciliary_processes hp.json processus ciliares|processus ciliares|ciliary process|set of ciliary processes|ciliary processes set|processus ciliares|ciliary processes|ciliary process http://purl.obolibrary.org/obo/UBERON_0010427 UBERON:0010428 biolink:AnatomicalEntity flat bone A bone that is shaped as a broad flat plate and composed of two thin layers of compact tissue enclosing between them a variable quantity of cancellous tissue, which is the location of red bone marrow. SCTID:332907008|FMA:7476|galen:FlatBone|UMLS:C0222649|Wikipedia:Flat_bone|NCIT:C32616 hp.json os planum|os planum http://purl.obolibrary.org/obo/UBERON_0010428 GO:0003674 biolink:MolecularActivity molecular_function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. These actions are described from two distinct but related perspectives: (1) biochemical activity, and (2) role as a component in a larger system/process. hp.json molecular function http://purl.obolibrary.org/obo/GO_0003674 goslim_pir|goslim_plant|goslim_aspergillus|goslim_metagenomics|goslim_chembl|goslim_candida|goslim_yeast GO:0003676 biolink:MolecularActivity nucleic acid binding Binding to a nucleic acid. hp.json base pairing http://purl.obolibrary.org/obo/GO_0003676 goslim_pir|goslim_plant|goslim_chembl|goslim_metagenomics GO:0003682 biolink:MolecularActivity chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. hp.json microtubule/chromatin interaction|lamin/chromatin binding|nuclear membrane vesicle binding to chromatin http://purl.obolibrary.org/obo/GO_0003682 goslim_pir|goslim_plant|goslim_drosophila|goslim_chembl|goslim_yeast OIO:consider biolink:NamedThing consider hp.json http://www.geneontology.org/formats/oboInOwl#consider GO:0015669 biolink:BiologicalProcess gas transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0015669 goslim_pir GO:0015630 biolink:CellularComponent microtubule cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. hp.json http://purl.obolibrary.org/obo/GO_0015630 goslim_aspergillus GO:0015631 biolink:MolecularActivity tubulin binding Binding to monomeric or multimeric forms of tubulin, including microtubules. hp.json http://purl.obolibrary.org/obo/GO_0015631 HP:0012396 biolink:PhenotypicFeature Biliary dyskinesia A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction. MSH:D001657|SNOMEDCT_US:197432008|UMLS:C0005416 hp.json http://purl.obolibrary.org/obo/HP_0012396 HP:0012397 biolink:PhenotypicFeature Aortic atherosclerotic lesion The presence of atheromas or atherosclerotic plaques in the aorta. SNOMEDCT_US:81817003|UMLS:C0155733 hp.json Aortic atherosclerosis|Atherosclerosis of the aorta|Plaque build-up in aorta artery|Atherosclerotic changes of aorta http://purl.obolibrary.org/obo/HP_0012397 HP:0012398 biolink:PhenotypicFeature Peripheral edema An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. SNOMEDCT_US:82014009|UMLS:C0085649|SNOMEDCT_US:271809000 hp.json Peripheral oedema http://purl.obolibrary.org/obo/HP_0012398 HP:0012399 biolink:PhenotypicFeature Pressure ulcer A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips. SNOMEDCT_US:399912005|MSH:D003668|UMLS:C0011127|SNOMEDCT_US:420226006 hp.json Bedsore|Pressure ulcer|Decubitus Ulcer|Pressure Sore http://purl.obolibrary.org/obo/HP_0012399 NCBITaxon:3398 biolink:OrganismalEntity Magnoliopsida GC_ID:1|PMID:25249442 hp.json angiosperms|Angiospermae|Magnoliophyta|flowering plants|flowering plants http://purl.obolibrary.org/obo/NCBITaxon_3398 HP:0012390 biolink:PhenotypicFeature Anal fissure A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus. MSH:D005401|SNOMEDCT_US:20928004|UMLS:C0016167|SNOMEDCT_US:30037006 hp.json Anal erosion http://purl.obolibrary.org/obo/HP_0012390 HP:0012391 biolink:PhenotypicFeature Hyporeflexia of upper limbs Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. UMLS:C1836835 hp.json http://purl.obolibrary.org/obo/HP_0012391 HP:0012392 biolink:PhenotypicFeature Jaw hyporeflexia Reduced intensity of muscle tendon reflexes in jaw. UMLS:C4022918 hp.json Mandibular hyporeflexia http://purl.obolibrary.org/obo/HP_0012392 HP:0012393 biolink:PhenotypicFeature Allergy An allergy is an immune response or reaction to substances that are usually not harmful. MSH:D006967|SNOMEDCT_US:419076005|UMLS:C1527304 hp.json Allergy http://purl.obolibrary.org/obo/HP_0012393 HP:0012394 biolink:PhenotypicFeature Iodine contrast allergy Allergy to iodine contrast media used in radiological studies. UMLS:C4022917 hp.json http://purl.obolibrary.org/obo/HP_0012394 HP:0012395 biolink:PhenotypicFeature Seasonal allergy An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction. UMLS:C0018621|SNOMEDCT_US:300910009|SNOMEDCT_US:367498001|SNOMEDCT_US:444316004|MSH:D006255|SNOMEDCT_US:21719001 hp.json Seasonal allergy http://purl.obolibrary.org/obo/HP_0012395 CHEBI:39150 biolink:ChemicalSubstance 4-oxopentanoate A member of the class of oxopentanoates that is the conjugate base of 4-oxopentanoic acid. Gmelin:325844|Reaxys:3537533|Beilstein:3537533 hp.json 4-oxopentanoate|levulinate|4-ketovalerate|4-oxovalerate|laevulinate|gamma-ketovalerate|beta-acetylpropionate|levulate|3-acetylpropionate http://purl.obolibrary.org/obo/CHEBI_39150 3_STAR GO:1904409 biolink:BiologicalProcess regulation of secretory granule organization Any process that modulates the frequency, rate or extent of secretory granule organization. hp.json regulation of secretory granule organisation|regulation of secretory granule organization and biogenesis http://purl.obolibrary.org/obo/GO_1904409 CHEBI:27162 biolink:ChemicalSubstance tryptamines Tryptamine and its substitution derivatives. hp.json http://purl.obolibrary.org/obo/CHEBI_27162 3_STAR GO:0015629 biolink:CellularComponent actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. hp.json http://purl.obolibrary.org/obo/GO_0015629 goslim_aspergillus UBERON:0009503 biolink:AnatomicalEntity mesenchyme of hindgut Mesenchyme that is part of a developing hindgut. EMAPA:16716|EHDAA2:0000780 hp.json hindgut associated mesenchyme http://purl.obolibrary.org/obo/UBERON_0009503 emapa_ehdaa2 CHEBI:27171 biolink:ChemicalSubstance organic heterobicyclic compound hp.json organic heterobicyclic compounds|heterobicyclic compounds http://purl.obolibrary.org/obo/CHEBI_27171 3_STAR UBERON:0009505 biolink:AnatomicalEntity mesenchyme of trachea Mesenchyme that is part of a developing trachea. EHDAA2:0002067|EMAPA:16854 hp.json trachea associated mesenchyme http://purl.obolibrary.org/obo/UBERON_0009505 emapa_ehdaa2 UBERON:0009506 biolink:AnatomicalEntity mesenchyme of middle ear Mesenchyme that is part of a developing middle ear. EMAPA:17001|EHDAA2:0001182 hp.json otic mesenchyme|middle ear associated mesenchyme http://purl.obolibrary.org/obo/UBERON_0009506 emapa_ehdaa2 CHEBI:39144 biolink:ChemicalSubstance Lewis base A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct. hp.json Lewis base|donneur d'une paire d'electrons|base de Lewis|electron donor|Lewis-Base http://purl.obolibrary.org/obo/CHEBI_39144 3_STAR CHEBI:39142 biolink:ChemicalSubstance Bronsted base A molecular entity capable of accepting a hydron from a donor (Bronsted acid). hp.json accepteur d'hydron|Bronsted base|base de Bronsted|Bronsted-Base|hydron acceptor http://purl.obolibrary.org/obo/CHEBI_39142 3_STAR CHEBI:39141 biolink:ChemicalSubstance Bronsted acid A molecular entity capable of donating a hydron to an acceptor (Bronsted base). hp.json donneur d'hydron|acide de Bronsted|hydron donor|Bronsted acid|Bronsted-Saeure http://purl.obolibrary.org/obo/CHEBI_39141 3_STAR UBERON:0009500 biolink:AnatomicalEntity periotic mesenchyme Anatomical region that surrounds the otic vesicle. EMAPA:16670|XAO:0004474|EHDAA2:0001343 hp.json otocyst associated mesenchyme|periotic region|otocyst mesenchyme http://purl.obolibrary.org/obo/UBERON_0009500 emapa_ehdaa2 UBERON:0009501 biolink:AnatomicalEntity mesenchyme of fronto-nasal process The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head. EMAPA:16683|FMA:295821|EHDAA2:0004109 hp.json frontonasal mesenchyme|naso-frontal mesenchyme http://purl.obolibrary.org/obo/UBERON_0009501 emapa_ehdaa2|pheno_slim CL:0000787 biolink:Cell memory B cell A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative. hp.json memory B lymphocyte|memory B-lymphocyte|memory B-cell http://purl.obolibrary.org/obo/CL_0000787 CL:0000788 biolink:Cell naive B cell A naive B cell is a mature B cell that has the phenotype surface IgD-positive, surface IgM-positive, CD20-positive, CD27-negative and that has not yet been activated by antigen in the periphery. hp.json naive B-cell|naive B lymphocyte|naive B-lymphocyte http://purl.obolibrary.org/obo/CL_0000788 CL:0000789 biolink:Cell alpha-beta T cell A T cell that expresses an alpha-beta T cell receptor complex. hp.json alpha-beta T lymphocyte|alpha-beta T-lymphocyte|alpha-beta T-cell http://purl.obolibrary.org/obo/CL_0000789 GO:1904414 biolink:BiologicalProcess positive regulation of cardiac ventricle development Any process that activates or increases the frequency, rate or extent of cardiac ventricle development. hp.json up-regulation of cardiac ventricle development|up regulation of cardiac ventricle development|activation of cardiac ventricle development|upregulation of cardiac ventricle development http://purl.obolibrary.org/obo/GO_1904414 CHEBI:27136 biolink:ChemicalSubstance triol A chemical compound containing three hydroxy groups. hp.json triols http://purl.obolibrary.org/obo/CHEBI_27136 3_STAR GO:1904413 biolink:BiologicalProcess negative regulation of cardiac ventricle development Any process that stops, prevents or reduces the frequency, rate or extent of cardiac ventricle development. hp.json inhibition of cardiac ventricle development|downregulation of cardiac ventricle development|down-regulation of cardiac ventricle development|down regulation of cardiac ventricle development http://purl.obolibrary.org/obo/GO_1904413 GO:1904412 biolink:BiologicalProcess regulation of cardiac ventricle development Any process that modulates the frequency, rate or extent of cardiac ventricle development. hp.json http://purl.obolibrary.org/obo/GO_1904412 GO:1904411 biolink:BiologicalProcess positive regulation of secretory granule organization Any process that activates or increases the frequency, rate or extent of secretory granule organization. hp.json up regulation of secretory granule organization|upregulation of secretory granule organization and biogenesis|activation of secretory granule organization and biogenesis|up-regulation of secretory granule organization|upregulation of secretory granule organisation|activation of secretory granule organization|positive regulation of secretory granule organisation|up-regulation of secretory granule organization and biogenesis|up regulation of secretory granule organisation|upregulation of secretory granule organization|up regulation of secretory granule organization and biogenesis|positive regulation of secretory granule organization and biogenesis|up-regulation of secretory granule organisation|activation of secretory granule organisation http://purl.obolibrary.org/obo/GO_1904411 CHEBI:29793 biolink:ChemicalSubstance hydridodioxygen(1+) Gmelin:508 hp.json HOO(+)|HO2(+)|[HO2](+)|hydridodioxygen(1+)|dioxidenium http://purl.obolibrary.org/obo/CHEBI_29793 3_STAR GO:1904410 biolink:BiologicalProcess negative regulation of secretory granule organization Any process that stops, prevents or reduces the frequency, rate or extent of secretory granule organization. hp.json down-regulation of secretory granule organization and biogenesis|negative regulation of secretory granule organization and biogenesis|down regulation of secretory granule organisation|inhibition of secretory granule organisation|down regulation of secretory granule organization and biogenesis|down-regulation of secretory granule organisation|downregulation of secretory granule organization|negative regulation of secretory granule organisation|downregulation of secretory granule organization and biogenesis|down regulation of secretory granule organization|inhibition of secretory granule organization|down-regulation of secretory granule organization|inhibition of secretory granule organization and biogenesis|downregulation of secretory granule organisation http://purl.obolibrary.org/obo/GO_1904410 CL:0000782 biolink:Cell myeloid dendritic cell A dendritic cell of the myeloid lineage. BTO:0004721 hp.json veiled cell|mDC|CD11c+CD123- DC|interdigitating cell http://purl.obolibrary.org/obo/CL_0000782 CL:0000785 biolink:Cell mature B cell A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. hp.json mature B-cell|mature B lymphocyte|mature B-lymphocyte http://purl.obolibrary.org/obo/CL_0000785 PR:Q12882 biolink:Protein dihydropyrimidine dehydrogenase [NADP(+)] (human) A dihydropyrimidine dehydrogenase [NADP(+)] that is encoded in the genome of human. UniProtKB:Q12882 hp.json DPYD|DPD (human)|hDPYD|DHPDHase (human)|dihydrouracil dehydrogenase (human)|dihydrothymine dehydrogenase (human) http://purl.obolibrary.org/obo/PR_Q12882 GO:0050000 biolink:BiologicalProcess chromosome localization Any process in which a chromosome is transported to, or maintained in, a specific location. hp.json establishment and maintenance of chromosome position|establishment and maintenance of chromosome localization|chromosome localisation http://purl.obolibrary.org/obo/GO_0050000 CL:0000798 biolink:Cell gamma-delta T cell A T cell that expresses a gamma-delta T cell receptor complex. hp.json gamma-delta T-cell|gamma-delta T lymphocyte|gamma-delta T-lymphocyte|gammadelta T cell|gd T cell http://purl.obolibrary.org/obo/CL_0000798 CL:0000799 biolink:Cell immature gamma-delta T cell A gamma-delta T cell that has an immature phenotype. hp.json immature gamma-delta T-lymphocyte|immature gamma-delta T-cell|immature gamma-delta T lymphocyte http://purl.obolibrary.org/obo/CL_0000799 CHEBI:88167 biolink:ChemicalSubstance N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide A glycotetraosylceramide having N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl component attached to the primary hydroxy function of a ceramide with undefined sphingoid base. hp.json globoside Gb4Cer|beta-D-GalpNAc-(1->3)-alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-(1<->1')-Cer|beta-D-GalNAc-(1->3)-alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer http://purl.obolibrary.org/obo/CHEBI_88167 3_STAR CL:0000790 biolink:Cell immature alpha-beta T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. hp.json immature alpha-beta T-lymphocyte|immature alpha-beta T-cell|immature alpha-beta T lymphocyte http://purl.obolibrary.org/obo/CL_0000790 CL:0000791 biolink:Cell mature alpha-beta T cell A alpha-beta T cell that has a mature phenotype. hp.json mature alpha-beta T-cell|mature alpha-beta T lymphocyte|mature alpha-beta T-lymphocyte http://purl.obolibrary.org/obo/CL_0000791 CL:0000792 biolink:Cell CD4-positive, CD25-positive, alpha-beta regulatory T cell A CD4-positive, CD25-positive, alpha-beta T cell that regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release. hp.json suppressor T-lymphocyte|CD4-positive, CD25-positive, alpha-beta regulatory T-cell|CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte|Treg|CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte|suppressor T cell|suppressor T-cell|suppressor T lymphocyte http://purl.obolibrary.org/obo/CL_0000792 CHEBI:27150 biolink:ChemicalSubstance trisaccharide Wikipedia:Trisaccharide hp.json trisaccharides http://purl.obolibrary.org/obo/CHEBI_27150 3_STAR CHEBI:30795 biolink:ChemicalSubstance malonate(1-) Gmelin:324637|Beilstein:3904186 hp.json HOOC-CH2-COO(-)|Malonic acid, conjugate base|carboxyacetate|Hmalo http://purl.obolibrary.org/obo/CHEBI_30795 3_STAR CHEBI:30794 biolink:ChemicalSubstance malonic acid An alpha,omega-dicarboxylic acid in which the two carboxy groups are separated by a single methylene group. MetaCyc:MALONATE|PDBeChem:MLA|KNApSAcK:C00001193|KEGG:C00383|CAS:141-82-2|LIPID_MAPS_instance:LMFA01170041|Gmelin:2550|HMDB:HMDB0000691|CAS:141-82-2|CAS:141-82-2|DrugBank:DB02175|Reaxys:1751370|Beilstein:1751370|PMID:22770225|Wikipedia:Malonic_acid hp.json HOOC-CH2-COOH|Malonic acid|Propanedioic acid|MALONIC ACID|H2malo|propanedioic acid http://purl.obolibrary.org/obo/CHEBI_30794 3_STAR HP:0012341 biolink:PhenotypicFeature Microprolactinoma A pituitary prolactin cell adenoma of less than 10 mm diameter. SNOMEDCT_US:253010003|MSH:D015175|UMLS:C0344452 hp.json http://purl.obolibrary.org/obo/HP_0012341 HP:0012342 biolink:PhenotypicFeature Macroprolactinoma A pituitary prolactin cell adenoma of more than 10 mm diameter. SNOMEDCT_US:253011004|MSH:D015175|UMLS:C0344453 hp.json http://purl.obolibrary.org/obo/HP_0012342 HP:0012343 biolink:PhenotypicFeature Decreased circulating ferritin concentration Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. UMLS:C0241012 hp.json Reduced serum ferritin|Decreased serum ferritin|Low ferritin level|Decreased plasma ferritin http://purl.obolibrary.org/obo/HP_0012343 HP:0012344 biolink:PhenotypicFeature Morphea Isolated patches of hardened skin (scleroderma). UMLS:C1527383|SNOMEDCT_US:201049004|MSH:D012594 hp.json http://purl.obolibrary.org/obo/HP_0012344 HP:0012345 biolink:PhenotypicFeature Abnormal glycosylation An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. UMLS:C4022946 hp.json http://purl.obolibrary.org/obo/HP_0012345 HP:0012346 biolink:PhenotypicFeature Abnormal protein glycosylation An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. UMLS:C4022945 hp.json http://purl.obolibrary.org/obo/HP_0012346 HP:0012347 biolink:PhenotypicFeature Abnormal protein N-linked glycosylation An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. UMLS:C4022944 hp.json http://purl.obolibrary.org/obo/HP_0012347 HP:0012348 biolink:PhenotypicFeature Decreased galactosylation of N-linked protein glycosylation A reduction in the amount of galactose residues of N-glycans. UMLS:C4022943 hp.json http://purl.obolibrary.org/obo/HP_0012348 NCBITaxon:119089 biolink:OrganismalEntity Chromadorea GC_ID:1 hp.json Adenophorea http://purl.obolibrary.org/obo/NCBITaxon_119089 HP:0000359 biolink:PhenotypicFeature Abnormality of the inner ear An abnormality of the inner ear. UMLS:C4021809 hp.json Inner ear abnormality|Abnormality of the inner ear http://purl.obolibrary.org/obo/HP_0000359 HP:0012340 biolink:PhenotypicFeature Decreased resting energy expenditure A reduction in the number of calories used per unit time. UMLS:C4022947 hp.json http://purl.obolibrary.org/obo/HP_0012340 HP:0000356 biolink:PhenotypicFeature Abnormality of the outer ear An abnormality of the external ear. UMLS:C1846460|UMLS:C0266589|SNOMEDCT_US:275259005 hp.json Malformed pinnae|External ear malformations|Ear anomalies|Outer ear abnormality|Abnormality of the outer ear|Abnormal pinnae|Abnormality of the external ear|Abnormality of the auricle http://purl.obolibrary.org/obo/HP_0000356 HP:0000358 biolink:PhenotypicFeature Posteriorly rotated ears A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). SNOMEDCT_US:253251006|UMLS:C0431478 hp.json Ear, posterior angulation, increased|Posteriorly angulated ears|Posteriorly rotated auricles|Posteriorly-angulated ears|Ears rotated toward back of head|Posteriorly-rotated ears|Posteriorly rotated http://purl.obolibrary.org/obo/HP_0000358 hposlim_core HP:0000357 biolink:PhenotypicFeature Abnormal location of ears Abnormal location of the ear. UMLS:C4021810 hp.json Abnormal location of ears|External ear position defect http://purl.obolibrary.org/obo/HP_0000357 HP:0012349 biolink:PhenotypicFeature Abnormal sialylation of N-linked protein glycosylation An anomaly of the addition of sialic acids to N-linked glycans. UMLS:C4022942 hp.json http://purl.obolibrary.org/obo/HP_0012349 HP:0000350 biolink:PhenotypicFeature Small forehead The presence of a forehead that is abnormally small. UMLS:C1845250|UMLS:C4280634|UMLS:C4280633 hp.json Small forehead|Hypoplasia of forehead|Hypotrophic forehead|Decreased size of forehead|Decreased size of frontal region of face http://purl.obolibrary.org/obo/HP_0000350 HP:0012330 biolink:PhenotypicFeature Pyelonephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. SNOMEDCT_US:45816000|MSH:D011704|UMLS:C0034186 hp.json http://purl.obolibrary.org/obo/HP_0012330 HP:0012331 biolink:PhenotypicFeature Abnormal autonomic nervous system morphology A structural abnormality of the autonomic nervous system. UMLS:C4022953 hp.json http://purl.obolibrary.org/obo/HP_0012331 HP:0012332 biolink:PhenotypicFeature Abnormal autonomic nervous system physiology A functional abnormality of the autonomic nervous system. UMLS:C4022952 hp.json Autonomic dysregulation|Autonomic dysfunction|Dysautonomia http://purl.obolibrary.org/obo/HP_0012332 HP:0012333 biolink:PhenotypicFeature Abnormal sudomotor regulation An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration. UMLS:C4021092 hp.json Sudomotor sympathetic dysfunction http://purl.obolibrary.org/obo/HP_0012333 HP:0012334 biolink:PhenotypicFeature Extrahepatic cholestasis Impairment of bile flow due to obstruction in large bile ducts outside the liver. MSH:D001651|SNOMEDCT_US:20719006|SNOMEDCT_US:8262006|UMLS:C0005398 hp.json http://purl.obolibrary.org/obo/HP_0012334 HP:0012335 biolink:PhenotypicFeature Abnormality of folate metabolism An abnormality of the metabolism of folic acid, which is also known as vitamin B9. UMLS:C4022951 hp.json http://purl.obolibrary.org/obo/HP_0012335 HP:0012336 biolink:PhenotypicFeature obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration hp.json http://purl.obolibrary.org/obo/HP_0012336 HP:0012337 biolink:PhenotypicFeature Abnormal homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. UMLS:C4022950|MP:0001764 hp.json http://purl.obolibrary.org/obo/HP_0012337 HP:0000363 biolink:PhenotypicFeature Abnormal earlobe morphology An abnormality of the lobule of pinna. UMLS:C4021808 hp.json Abnormal lobe of ear|Abnormality of auricular lobule|Abnormal earlobe|Abnormality of lobulus auriculae|Abnormality of ear lobe|Abnormality of earlobe http://purl.obolibrary.org/obo/HP_0000363 hposlim_core HP:0000362 biolink:PhenotypicFeature Otosclerosis In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss. MSH:D010040|UMLS:C0029899|SNOMEDCT_US:11543004 hp.json http://purl.obolibrary.org/obo/HP_0000362 hposlim_core HP:0000365 biolink:PhenotypicFeature Hearing impairment A decreased magnitude of the sensory perception of sound. SNOMEDCT_US:103276001|SNOMEDCT_US:343087000|SNOMEDCT_US:95828007|SNOMEDCT_US:15188001|Fyler:4868|MSH:D034381|UMLS:C0339789|UMLS:C0011053|MSH:D003638|UMLS:C0018772|UMLS:C1384666 hp.json Hearing impairment|Hypacusis|Hypoacusis|Hearing defect|Deafness|Hearing loss http://purl.obolibrary.org/obo/HP_0000365 HP:0000364 biolink:PhenotypicFeature Hearing abnormality An abnormality of the sensory perception of sound. UMLS:C4025860 hp.json Abnormal hearing|Hearing abnormality http://purl.obolibrary.org/obo/HP_0000364 HP:0000366 biolink:PhenotypicFeature Abnormality of the nose An abnormality of the nose. UMLS:C2235909|SNOMEDCT_US:128274005|UMLS:C0240547|UMLS:C0265736|SNOMEDCT_US:72089000 hp.json Nasal malformation|Nasal abnormality|Nasal anomaly|Anomaly of the nose|Abnormality of the nose|Deformity of the nose|Malformation of the nose|Nasal deformity http://purl.obolibrary.org/obo/HP_0000366 hposlim_core HP:0000369 biolink:PhenotypicFeature Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. UMLS:C0239234|SNOMEDCT_US:95515009 hp.json Melotia|Low set ears|Low-set ears|Lowset ears|Low-set pinnae http://purl.obolibrary.org/obo/HP_0000369 hposlim_core HP:0000368 biolink:PhenotypicFeature Low-set, posteriorly rotated ears Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358). UMLS:C1857486 hp.json Low-set posteriorly rotated ears http://purl.obolibrary.org/obo/HP_0000368 HP:0012338 biolink:PhenotypicFeature Abnormal energy expenditure Any anomaly in the utilization of energy (calories). UMLS:C4022949 hp.json Abnormal energy expenditure http://purl.obolibrary.org/obo/HP_0012338 HP:0012339 biolink:PhenotypicFeature Increased resting energy expenditure An increase in the number of calories used per unit time. UMLS:C4022948 hp.json http://purl.obolibrary.org/obo/HP_0012339 HP:0000361 biolink:PhenotypicFeature obsolete Pulsatile tinnitus (tympanic paraganglioma) hp.json http://purl.obolibrary.org/obo/HP_0000361 HP:0000360 biolink:PhenotypicFeature Tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. UMLS:C0040264|MSH:D014012|SNOMEDCT_US:162349004|SNOMEDCT_US:162352007|SNOMEDCT_US:60862001 hp.json Ringing in the ears|Ringing in ears http://purl.obolibrary.org/obo/HP_0000360 hposlim_core HP:0012320 biolink:PhenotypicFeature Absent pigmentation of the limbs Lack of skin pigmentation (coloring) of the arms and legs. UMLS:C4022955 hp.json http://purl.obolibrary.org/obo/HP_0012320 HP:0012321 biolink:PhenotypicFeature D-2-hydroxyglutaric aciduria An increased concentration of 2-hydroxyglutaric acid in the urine. SNOMEDCT_US:237960000|UMLS:C1833429 hp.json http://purl.obolibrary.org/obo/HP_0012321 HP:0012322 biolink:PhenotypicFeature Perifolliculitis Inflammation surrounding hair follicles. UMLS:C0263006|SNOMEDCT_US:83341004 hp.json Perifollicular inflammation http://purl.obolibrary.org/obo/HP_0012322 HP:0012323 biolink:PhenotypicFeature Sleep myoclonus Myoclonus that occurs during the initial phases of sleep. SNOMEDCT_US:34101000119105|MSH:D009207|UMLS:C0751352 hp.json http://purl.obolibrary.org/obo/HP_0012323 HP:0012324 biolink:PhenotypicFeature Myeloid leukemia A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. SNOMEDCT_US:188732008|SNOMEDCT_US:128934006|SNOMEDCT_US:37810007|MSH:D007951|UMLS:C0023470 hp.json Myeloid leukaemia http://purl.obolibrary.org/obo/HP_0012324 HP:0012325 biolink:PhenotypicFeature Chronic myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. UMLS:C0023480|SNOMEDCT_US:127225006|SNOMEDCT_US:128831004|MSH:D015477 hp.json Chronic myelomonocytic leukaemia http://purl.obolibrary.org/obo/HP_0012325 HP:0012326 biolink:PhenotypicFeature Abnormal celiac artery morphology An anomaly of the celiac artery. UMLS:C4022954 hp.json Abnormal coeliac artery morphology|Abnormality of the coeliac artery|Abnormality of the celiac artery http://purl.obolibrary.org/obo/HP_0012326 HP:0000338 biolink:PhenotypicFeature Hypomimic face A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. SNOMEDCT_US:248149005|UMLS:C4280635|UMLS:C1862474|UMLS:C0813217 hp.json Decreased facial muscle movement|Dull facial expression|Decreased facial expressions|Hypomimia http://purl.obolibrary.org/obo/HP_0000338 HP:0000337 biolink:PhenotypicFeature Broad forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. UMLS:C1849089 hp.json Increased width of the forehead|Intertemporal widening|Broad forehead|Wide forehead|Increased bitemporal dimension|Increased bitemporal width|Bitemporal widening http://purl.obolibrary.org/obo/HP_0000337 hposlim_core HP:0002999 biolink:PhenotypicFeature Patellar dislocation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. MSH:D031222|UMLS:C1135812|SNOMEDCT_US:263029007 hp.json Dislocation of patella|Dislocated patellae|Dislocated kneecap http://purl.obolibrary.org/obo/HP_0002999 HP:0000339 biolink:PhenotypicFeature Pugilistic facies Coarse facial features reminiscent of those of a boxer. UMLS:C1846011 hp.json Pugilistic facial appearance|Boxer-like facial appearance http://purl.obolibrary.org/obo/HP_0000339 HP:0002991 biolink:PhenotypicFeature Abnormality of fibula morphology An anomaly of the calf bone (fibula), one of the two bones of the calf. UMLS:C4025664 hp.json Abnormality of the calf bone http://purl.obolibrary.org/obo/HP_0002991 hposlim_core HP:0000331 biolink:PhenotypicFeature Short chin Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. UMLS:C1839323|UMLS:C3697248|SNOMEDCT_US:699439001 hp.json Vertical hypoplasia of chin|Short lower third of face|Vertical deficiency of chin|Decreased height of chin|Small chin|Short chin http://purl.obolibrary.org/obo/HP_0000331 HP:0002992 biolink:PhenotypicFeature Abnormality of tibia morphology Abnormality of the tibia (shinbone). UMLS:C4025663 hp.json Abnormality of the shankbone|Abnormality of the shinbone http://purl.obolibrary.org/obo/HP_0002992 HP:0002997 biolink:PhenotypicFeature obsolete Abnormality of the ulna hp.json http://purl.obolibrary.org/obo/HP_0002997 HP:0000336 biolink:PhenotypicFeature Prominent supraorbital ridges Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. UMLS:C4280639|UMLS:C1842060|UMLS:C4280638|UMLS:C4280637|UMLS:C4280636 hp.json Hyperplasia of supraorbital ridge|Prominent supraorbital margins|Hypertrophy of supraorbital margins|Prominent supraorbital ridge|Hypertrophy of supraorbital ridge|Protruding supraorbital ridge|Supraorbital hyperostosis|Prominent brow|Hyperplasia of supraorbital margins http://purl.obolibrary.org/obo/HP_0000336 hposlim_core HP:0002996 biolink:PhenotypicFeature Limited elbow movement UMLS:C1849955 hp.json Limited elbow mobility|Restricted elbow motion|Decreased elbow mobility|Limited elbow movement http://purl.obolibrary.org/obo/HP_0002996 HP:0012327 biolink:PhenotypicFeature Celiac artery compression Compression of the celiac artery. UMLS:C4020693|UMLS:C0152098|SNOMEDCT_US:9250002 hp.json Dunbar syndrome|Coeliac axis syndrome|Median arcuate ligament syndrome|Celiac axis syndrome|Coeliac artery compression http://purl.obolibrary.org/obo/HP_0012327 HP:0012328 biolink:PhenotypicFeature Cementoma An odontogenic tumor of the cementum of tooth. SNOMEDCT_US:37258009|MSH:D002485|UMLS:C0007659|SNOMEDCT_US:23255001 hp.json http://purl.obolibrary.org/obo/HP_0012328 HP:0012329 biolink:PhenotypicFeature Tufted angioma A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation. UMLS:C0346073|MSH:C536924|SNOMEDCT_US:705155008|SNOMEDCT_US:254786000 hp.json Tufted hemangioma|Angioblastoma of Nakagawa|Hypertrophic hemangioma|Angioblastoma|Progressive capillary hemangioma http://purl.obolibrary.org/obo/HP_0012329 HP:0002990 biolink:PhenotypicFeature Fibular aplasia Absence of the fibula. UMLS:C1836186|MEDDRA:10054882 hp.json Absent calf bone|Absent-hypoplastic fibulae|Absent fibulae http://purl.obolibrary.org/obo/HP_0002990 hposlim_core HP:0012310 biolink:PhenotypicFeature Abnormal monocyte count An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. SNOMEDCT_US:165540007|SNOMEDCT_US:165541006|UMLS:C0580319 hp.json Abnormal monocyte number http://purl.obolibrary.org/obo/HP_0012310 HP:0012311 biolink:PhenotypicFeature Monocytosis An increased number of circulating monocytes. UMLS:C0085702|SNOMEDCT_US:19636003 hp.json High blood monocyte number http://purl.obolibrary.org/obo/HP_0012311 HP:0012312 biolink:PhenotypicFeature Monocytopenia An decreased number of circulating monocytes. SNOMEDCT_US:165539005|UMLS:C0427544 hp.json Low blood monocyte number http://purl.obolibrary.org/obo/HP_0012312 HP:0012313 biolink:PhenotypicFeature Heberden's node Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. UMLS:C0018862|SNOMEDCT_US:371598009 hp.json http://purl.obolibrary.org/obo/HP_0012313 HP:0012314 biolink:PhenotypicFeature Bouchard's node Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. SNOMEDCT_US:20243008|UMLS:C0263780 hp.json http://purl.obolibrary.org/obo/HP_0012314 HP:0012315 biolink:PhenotypicFeature Histiocytoma A neoplasm containing histiocytes. MSH:D051642|SNOMEDCT_US:128741006|UMLS:C1509147|SNOMEDCT_US:302843004 hp.json http://purl.obolibrary.org/obo/HP_0012315 HP:0000349 biolink:PhenotypicFeature Widow's peak Frontal hairline with bilateral arcs to a low point in the midline of the forehead. UMLS:C1853486 hp.json Pointed hairline at front of head|Pointed frontal hairline|Hairline peak|V-shaped frontal hairline|Widow's peak|Hairline point http://purl.obolibrary.org/obo/HP_0000349 hposlim_core HP:0000348 biolink:PhenotypicFeature High forehead An abnormally increased height of the forehead. UMLS:C2677762|UMLS:C0239676 hp.json Tall forehead|High forehead http://purl.obolibrary.org/obo/HP_0000348 HP:0000341 biolink:PhenotypicFeature Narrow forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). UMLS:C1839758 hp.json Bitemporal narrowing|Temporal narrowness|Narrow bitemporal diameter|Bitemporal skull narrowing|Bitemporal narrowness|Narrow forehead|Decreased width of the forehead|Intertemporal narrowing|Narrow bitemporal width http://purl.obolibrary.org/obo/HP_0000341 hposlim_core HP:0000340 biolink:PhenotypicFeature Sloping forehead Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. UMLS:C1857679 hp.json Inclined forehead|Receding forehead|Sloping forehead|Posteriorly sloping forehead http://purl.obolibrary.org/obo/HP_0000340 hposlim_core HP:0000343 biolink:PhenotypicFeature Long philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. UMLS:C1865014 hp.json Increased vertical dimension of philtrum|Vertical hyperplasia of philtrum|Increased height of philtrum|Increased length of philtrum|Elongated philtrum http://purl.obolibrary.org/obo/HP_0000343 hposlim_core HP:0000347 biolink:PhenotypicFeature Micrognathia Developmental hypoplasia of the mandible. SNOMEDCT_US:32958008|Fyler:4163|UMLS:C1857130|MSH:D008844|UMLS:C0240295|UMLS:C0025990 hp.json Retrusion of lower jaw|Mandibular retrusion|Lower jaw hypoplasia|Robin mandible|Hypotrophic mandible|Decreased size of mandible|Micromandible|Decreased projection of lower jaw|Small lower jaw|Mandibular deficiency|Small jaw|Little lower jaw|Mandibular retrognathia|Decreased size of lower jaw|Decreased projection of mandible|Deficiency of lower jaw|Hypotrophic lower jaw|Hypoplastic mandible|Hypoplastic mandible condyle|Hypoplasia of mandible|Mandibular hypoplasia|Hypoplasia of lower jaw|Lower jaw retrusion|Lower jaw deficiency|Underdevelopment of mandible|Severe hypoplasia of mandible|Mandibular micrognathia|Little mandible|Micrognathia of lower jaw|Underdevelopment of lower jaw|Small mandible http://purl.obolibrary.org/obo/HP_0000347 hposlim_core HP:0000346 biolink:PhenotypicFeature Whistling appearance An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. UMLS:C1848473 hp.json Whistling facial appearance|Whistling appearance http://purl.obolibrary.org/obo/HP_0000346 HP:0012316 biolink:PhenotypicFeature Fibrous tissue neoplasm Any neoplasm composed of fibrous tissue. UMLS:C0206643|MSH:D018218 hp.json http://purl.obolibrary.org/obo/HP_0012316 HP:0012317 biolink:PhenotypicFeature Sacroiliac arthritis Inflammation of the sacroiliac joint, generally accompanied by lower back pain. MSH:C563037|UMLS:C0748473 hp.json Sacroiliitis http://purl.obolibrary.org/obo/HP_0012317 HP:0012318 biolink:PhenotypicFeature Occipital neuralgia A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side. UMLS:C0007863|SNOMEDCT_US:71760005 hp.json http://purl.obolibrary.org/obo/HP_0012318 HP:0012319 biolink:PhenotypicFeature Absent pigmentation of the abdomen Lack of skin pigmentation (coloring) of the abdomen. UMLS:C4022956 hp.json http://purl.obolibrary.org/obo/HP_0012319 HP:0012385 biolink:PhenotypicFeature Camptodactyly The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. UMLS:C0685409|SNOMEDCT_US:29271008 hp.json Permanent flexion of the finger or toe http://purl.obolibrary.org/obo/HP_0012385 hposlim_core HP:0012386 biolink:PhenotypicFeature Absent hallux Aplasia of the hallux, that is, a development defect such that the big toe does not develop. UMLS:C1841686 hp.json Missing big toe|Agenesis of the halluces|Absent big toe|Aplasia of the hallux http://purl.obolibrary.org/obo/HP_0012386 HP:0012387 biolink:PhenotypicFeature Bronchitis Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. SNOMEDCT_US:32398004|UMLS:C0006277|MSH:D001991 hp.json http://purl.obolibrary.org/obo/HP_0012387 HP:0012388 biolink:PhenotypicFeature Acute bronchitis Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness. UMLS:C0149514|SNOMEDCT_US:35301006|SNOMEDCT_US:10509002 hp.json http://purl.obolibrary.org/obo/HP_0012388 HP:0012389 biolink:PhenotypicFeature Appendicular hypotonia Muscular hypotonia of one or more limbs. UMLS:C4022919 hp.json http://purl.obolibrary.org/obo/HP_0012389 HP:0012380 biolink:PhenotypicFeature Reduced carnitine O-palmitoyltransferase level Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. UMLS:C4022921 hp.json http://purl.obolibrary.org/obo/HP_0012380 HP:0012381 biolink:PhenotypicFeature Delayed self-feeding during toddler years A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age). UMLS:C4022920 hp.json http://purl.obolibrary.org/obo/HP_0012381 HP:0012382 biolink:PhenotypicFeature Left-to-right shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. UMLS:C0428870|SNOMEDCT_US:66130006 hp.json http://purl.obolibrary.org/obo/HP_0012382 HP:0012383 biolink:PhenotypicFeature Bidirectional shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa. UMLS:C0428872|SNOMEDCT_US:13352000 hp.json http://purl.obolibrary.org/obo/HP_0012383 HP:0012384 biolink:PhenotypicFeature Rhinitis Inflammation of the nasal mucosa with nasal congestion. UMLS:C2718128|SNOMEDCT_US:70076002|MSH:D012220|UMLS:C0035455 hp.json Nasal inflammation http://purl.obolibrary.org/obo/HP_0012384 hposlim_core HP:0000396 biolink:PhenotypicFeature Overfolded helix A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. UMLS:C1837731 hp.json Over-folded helices|Overfolded ears|Overfolded helices http://purl.obolibrary.org/obo/HP_0000396 hposlim_core HP:0000395 biolink:PhenotypicFeature Prominent antihelix The presence of an abnormally prominent antihelix. UMLS:C1845272 hp.json http://purl.obolibrary.org/obo/HP_0000395 hposlim_core HP:0000399 biolink:PhenotypicFeature Prelingual sensorineural hearing impairment A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. UMLS:C4021806 hp.json Prelingual sensorineural deafness|Deafness, sensorineural, prelingual http://purl.obolibrary.org/obo/HP_0000399 GO:0015698 biolink:BiologicalProcess inorganic anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. hp.json http://purl.obolibrary.org/obo/GO_0015698 GO:0015695 biolink:BiologicalProcess organic cation transport The directed movement of organic cations into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic cations are atoms or small molecules with a positive charge which contain carbon in covalent linkage. hp.json http://purl.obolibrary.org/obo/GO_0015695 HP:0000391 biolink:PhenotypicFeature Thickened helices Increased thickness of the helix of the ear. UMLS:C1837732 hp.json Thick helix http://purl.obolibrary.org/obo/HP_0000391 hposlim_core HP:0000394 biolink:PhenotypicFeature Lop ear Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. SNOMEDCT_US:76223006|UMLS:C0266614 hp.json http://purl.obolibrary.org/obo/HP_0000394 hposlim_core HP:0012374 biolink:PhenotypicFeature obsolete Abnormal globe morphology hp.json http://purl.obolibrary.org/obo/HP_0012374 HP:0012375 biolink:PhenotypicFeature Chemosis Edema (swelling) of the bulbar conjunctiva. SNOMEDCT_US:8148005|UMLS:C0271298 hp.json http://purl.obolibrary.org/obo/HP_0012375 HP:0012376 biolink:PhenotypicFeature Microphakia Abnormal smallness of the lens. UMLS:C0266541|SNOMEDCT_US:35272001 hp.json Small lens http://purl.obolibrary.org/obo/HP_0012376 hposlim_core HP:0012377 biolink:PhenotypicFeature Hemianopia Partial or complete loss of vision in one half of the visual field of one or both eyes. MSH:D006423|SNOMEDCT_US:77674003|UMLS:C0018979 hp.json Hemianopsia http://purl.obolibrary.org/obo/HP_0012377 HP:0012378 biolink:PhenotypicFeature Fatigue A subjective feeling of tiredness characterized by a lack of energy and motivation. SNOMEDCT_US:84229001|MSH:D005221|UMLS:C0015672|SNOMEDCT_US:248274002 hp.json Tiredness|Tired|Fatigue http://purl.obolibrary.org/obo/HP_0012378 HP:0012379 biolink:PhenotypicFeature Abnormal enzyme/coenzyme activity An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. UMLS:C4022922 hp.json http://purl.obolibrary.org/obo/HP_0012379 HP:0012370 biolink:PhenotypicFeature Prominence of the zygomatic bone Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. UMLS:C4082245|UMLS:C1997760|SNOMEDCT_US:427888001|UMLS:C0375511 hp.json Prominence of cheekbone|Cheekbone prominence|Zygomatic bone excess|Malar hypertrophy|Zygomatic hypertrophy|Hyperplasia of cheekbone|Pronounced cheekbone|Hyperplasia of zygomatic bone|Cheekbone excess http://purl.obolibrary.org/obo/HP_0012370 hposlim_core HP:0012371 biolink:PhenotypicFeature Hyperplasia of midface Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face UMLS:C0240309 hp.json Midfacial excess|Midface hyperplasia|Hypertrophy of midface|Midfacial prominence|Big midface|Overgrowth of the midface|Large midface http://purl.obolibrary.org/obo/HP_0012371 hposlim_core HP:0012372 biolink:PhenotypicFeature Abnormal eye morphology A structural anomaly of the globe of the eye, or bulbus oculi. UMLS:C4022925|Fyler:4863 hp.json Abnormally shaped eye|Abnormal eye structure|Abnormality of the globe http://purl.obolibrary.org/obo/HP_0012372 HP:0012373 biolink:PhenotypicFeature Abnormal eye physiology A functional anomaly of the eye. UMLS:C4022924 hp.json Abnormal eye physiology http://purl.obolibrary.org/obo/HP_0012373 HP:0012363 biolink:PhenotypicFeature Decreased sialylation of O-linked protein glycosylation An reduced addition of sialic acids to O-linked glycans. UMLS:C4022928 hp.json http://purl.obolibrary.org/obo/HP_0012363 HP:0012364 biolink:PhenotypicFeature Decreased urinary potassium A decreased concentration of potassium(1+) in the urine. SNOMEDCT_US:54781007|UMLS:C0268024 hp.json Hypokaluria|Low urine potassium levels|Hypokaliuria|Decreased urinary K http://purl.obolibrary.org/obo/HP_0012364 HP:0012365 biolink:PhenotypicFeature Hypophosphaturia An abnormally decreased phosphate concentration in the urine. UMLS:C0268077|SNOMEDCT_US:91632005 hp.json Low urine phosphate levels http://purl.obolibrary.org/obo/HP_0012365 HP:0012366 biolink:PhenotypicFeature Basilar invagination Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). UMLS:C3887851 hp.json http://purl.obolibrary.org/obo/HP_0012366 HP:0012367 biolink:PhenotypicFeature Extra fontanelles Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull. UMLS:C4022927 hp.json http://purl.obolibrary.org/obo/HP_0012367 hposlim_core HP:0012368 biolink:PhenotypicFeature Flat face Absence of concavity or convexity of the face when viewed in profile. UMLS:C1853241 hp.json Flat facial profile|Flat facial shape|Flat face|Flat facies http://purl.obolibrary.org/obo/HP_0012368 hposlim_core HP:0012369 biolink:PhenotypicFeature obsolete Abnormal malar bone morphology hp.json http://purl.obolibrary.org/obo/HP_0012369 HP:0012360 biolink:PhenotypicFeature Decreased fucosylation of O-linked protein glycosylation A reduction of the addition of fucose sugar units to O-linked glycans. UMLS:C4022931 hp.json http://purl.obolibrary.org/obo/HP_0012360 HP:0012361 biolink:PhenotypicFeature Increased fucosylation of O-linked protein glycosylation Increased addition of fucose sugar units to O-linked glycans. UMLS:C4022930 hp.json http://purl.obolibrary.org/obo/HP_0012361 HP:0012362 biolink:PhenotypicFeature Abnormal sialylation of O-linked protein glycosylation An anomaly of the addition of sialic acids to O-linked glycans. UMLS:C4022929 hp.json http://purl.obolibrary.org/obo/HP_0012362 HP:0000376 biolink:PhenotypicFeature Incomplete partition of the cochlea type II With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. UMLS:C4025857|UMLS:C1857078 hp.json Mondini dysplasia|Mondini malformation|Mondini defect|Cochlear malformation defect (Mondini dysplasia) http://purl.obolibrary.org/obo/HP_0000376 HP:0000375 biolink:PhenotypicFeature Abnormal cochlea morphology An abnormality of the cochlea. UMLS:C4025858 hp.json Abnormality of cochlea http://purl.obolibrary.org/obo/HP_0000375 HP:0000378 biolink:PhenotypicFeature Cupped ear Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). UMLS:C1845447|UMLS:C4020892 hp.json Cupped ear|Capuchin ears|Simple, cup-shaped ears|Cupped ears|Cup-shaped ears http://purl.obolibrary.org/obo/HP_0000378 hposlim_core HP:0000377 biolink:PhenotypicFeature Abnormal pinna morphology An abnormality of the pinna, which is also referred to as the auricle or external ear. SNOMEDCT_US:253255002|UMLS:C0431483|UMLS:C0857379 hp.json Malformation of auricle|Deformed auricles|Minor malformation of the auricles|Malformed external ears|Dysplastic ears|Malformed ears|Malformed auricles|Abnormally shaped ears|Poorly defined conchae|Abnormal form of ears|Deformed ears|Auricular malformation http://purl.obolibrary.org/obo/HP_0000377 GO:0015671 biolink:BiologicalProcess oxygen transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0015671 HP:0000370 biolink:PhenotypicFeature Abnormality of the middle ear An abnormality of the middle ear. UMLS:C1861141 hp.json Middle ear abnormality|Middle ear abnormalities http://purl.obolibrary.org/obo/HP_0000370 hposlim_core HP:0000372 biolink:PhenotypicFeature Abnormality of the auditory canal An abnormality of the External acoustic tube (also known as the auditory canal). UMLS:C4021807 hp.json Auditory canal abnormality http://purl.obolibrary.org/obo/HP_0000372 HP:0000371 biolink:PhenotypicFeature Acute otitis media Acute otitis media is a short and generally painful infection of the middle ear. UMLS:C0271429|SNOMEDCT_US:3110003 hp.json Acute middle ear infection http://purl.obolibrary.org/obo/HP_0000371 HP:0012352 biolink:PhenotypicFeature Abnormal fucosylation of protein N-linked glycosylation An anomaly of the addition of fucose sugar units to N-linked glycans. UMLS:C4022939 hp.json http://purl.obolibrary.org/obo/HP_0012352 HP:0012353 biolink:PhenotypicFeature Decreased fucosylation of N-linked protein glycosylation Decreased addition of fucose sugar units to N-linked glycans. UMLS:C4022938 hp.json http://purl.obolibrary.org/obo/HP_0012353 HP:0012354 biolink:PhenotypicFeature Increased fucosylation of N-linked protein glycosylation Increased addition of fucose sugar units to N-linked glycans. UMLS:C4022937 hp.json http://purl.obolibrary.org/obo/HP_0012354 HP:0012355 biolink:PhenotypicFeature Abnormal mannosylation of N-linked protein glycosylation An anomaly of the addition of mannose to N-linked glycans. UMLS:C4022936 hp.json http://purl.obolibrary.org/obo/HP_0012355 HP:0012356 biolink:PhenotypicFeature Decreased mannosylation of N-linked protein glycosylation Reduced addition of mannose to N-linked glycans. UMLS:C4022935 hp.json http://purl.obolibrary.org/obo/HP_0012356 HP:0012357 biolink:PhenotypicFeature Increased mannosylation of N-linked protein glycosylation Increased addition of mannose to N-linked glycans. UMLS:C4022934 hp.json http://purl.obolibrary.org/obo/HP_0012357 HP:0012358 biolink:PhenotypicFeature Abnormal protein O-linked glycosylation An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. UMLS:C4022933 hp.json http://purl.obolibrary.org/obo/HP_0012358 HP:0012359 biolink:PhenotypicFeature Abnormal fucosylation of O-linked protein glycosylation An anomaly of the addition of fucose sugar units to O-linked glycans. UMLS:C4022932 hp.json http://purl.obolibrary.org/obo/HP_0012359 CHEBI:146306 biolink:ChemicalSubstance partially-defined glycan A member of the class of carbohydrates and carbohydrate derivatives that is any oligosaccharide or polysaccharide in which the identity of one or more of the individual monosaccharide units, their connectivity (position of attachment) or the stereochemistry (alpha- or beta-) of one or more of the glycosidic linkages is not known. hp.json partially defined glycan|partially-defined glycans|partially defined glycans http://purl.obolibrary.org/obo/CHEBI_146306 3_STAR HP:0012350 biolink:PhenotypicFeature Decreased sialylation of N-linked protein glycosylation Decreased addition of sialic acids to N-linked glycans. UMLS:C4022941 hp.json http://purl.obolibrary.org/obo/HP_0012350 HP:0012351 biolink:PhenotypicFeature Increased sialylation of N-linked protein glycosylation Increased addition of sialic acids to N-linked glycans. UMLS:C4022940 hp.json http://purl.obolibrary.org/obo/HP_0012351 HP:0000385 biolink:PhenotypicFeature Small earlobe Reduced volume of the earlobe. UMLS:C1842680 hp.json Small earlobe|Hypoplastic earlobes|Hypoplastic lobules|Small earlobes http://purl.obolibrary.org/obo/HP_0000385 hposlim_core HP:0000384 biolink:PhenotypicFeature Preauricular skin tag A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). UMLS:C1860816|UMLS:C4072826 hp.json Skin tag on the posterior cheek|Preauricular skin tags|Preauricular tag|Ear tag|Periauricular skin tag|Skin tag in front of the ear|Preauricular acrochordon|Preauricular fibroepithelial polyp|Preauricular tags http://purl.obolibrary.org/obo/HP_0000384 HP:0000387 biolink:PhenotypicFeature Absent earlobe Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. UMLS:C1849364 hp.json Absent ear lobes|Absent earlobe|Lobule aplasia|Lobeless ears|Earlobe, absent http://purl.obolibrary.org/obo/HP_0000387 hposlim_core HP:0000389 biolink:PhenotypicFeature Chronic otitis media Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. SNOMEDCT_US:21186006|UMLS:C0743359|UMLS:C0271441 hp.json Chronic middle ear infection|Chronic ear infection|Chronic infections of the middle ear|Otitis media, chronic http://purl.obolibrary.org/obo/HP_0000389 hposlim_core HP:0000388 biolink:PhenotypicFeature Otitis media Inflammation or infection of the middle ear. SNOMEDCT_US:65363002|UMLS:C0029882|MSH:D010033 hp.json Middle ear infection http://purl.obolibrary.org/obo/HP_0000388 HP:0000381 biolink:PhenotypicFeature Stapes ankylosis Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). UMLS:C1861326 hp.json Stapes fixation http://purl.obolibrary.org/obo/HP_0000381 hposlim_core HP:0000383 biolink:PhenotypicFeature Abnormal periauricular region morphology UMLS:C4025856 hp.json Anomaly of the periauricular region|Malformation of the periauricular region|Deformity of the periauricular region|Abnormality of periauricular region|Abnormality of the region around the ear http://purl.obolibrary.org/obo/HP_0000383 BFO:0000141 biolink:NamedThing immaterial entity hp.json http://purl.obolibrary.org/obo/BFO_0000141 HP:0012500 biolink:PhenotypicFeature Verrucous papule A wartlike (with multiple small elevated projections) papule. UMLS:C4022877 hp.json Papillomatous papule http://purl.obolibrary.org/obo/HP_0012500 HP:0012501 biolink:PhenotypicFeature Abnormal brainstem white matter morphology An anomaly of the white matter of brainstem. UMLS:C4022876 hp.json Abnormality of the brainstem white matter http://purl.obolibrary.org/obo/HP_0012501 HP:0012502 biolink:PhenotypicFeature Abnormality of the internal capsule An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus. UMLS:C4022875 hp.json http://purl.obolibrary.org/obo/HP_0012502 HP:0000514 biolink:PhenotypicFeature Slow saccadic eye movements An abnormally slow velocity of the saccadic eye movements. UMLS:C1321329|SNOMEDCT_US:404686001 hp.json Slow eye movements|Slow saccades|Slow visual tracking http://purl.obolibrary.org/obo/HP_0000514 hposlim_core HP:0000518 biolink:PhenotypicFeature Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. SNOMEDCT_US:128306009|SNOMEDCT_US:193570009|UMLS:C0086543|MSH:D002386|SNOMEDCT_US:247053007|Fyler:4865|UMLS:C1510497 hp.json Cloudy lens|Clouding of the lens of the eye|Lens opacity|Cataracts|Lens opacities http://purl.obolibrary.org/obo/HP_0000518 hposlim_core HP:0000517 biolink:PhenotypicFeature Abnormal lens morphology An abnormality of the lens. UMLS:C0023308|UMLS:C0549651|SNOMEDCT_US:10810001|MSH:D007905 hp.json Abnormality of the lens|Lens issue|Lens disease http://purl.obolibrary.org/obo/HP_0000517 HP:0000519 biolink:PhenotypicFeature Developmental cataract A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. UMLS:C0009691|UMLS:C3277059|SNOMEDCT_US:609587005|SNOMEDCT_US:79410001 hp.json Cataract, congenital|Congenital cataracts, bilateral|Congenital cataracts|Bilateral congenital cataracts|Clouding of the lens of the eye at birth|Congenital cataract http://purl.obolibrary.org/obo/HP_0000519 hposlim_core HP:0000510 biolink:PhenotypicFeature Rod-cone dystrophy An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. SNOMEDCT_US:28835009|UMLS:C0035334|MSH:D012174 hp.json Rod cone dystrophy|Retinitis pigmentosa http://purl.obolibrary.org/obo/HP_0000510 hposlim_core HP:0000512 biolink:PhenotypicFeature Abnormal electroretinogram Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. UMLS:C0476397|SNOMEDCT_US:274524001 hp.json Abnormal ERG|ERG abnormal|Abnormal electroretinography http://purl.obolibrary.org/obo/HP_0000512 hposlim_core HP:0000511 biolink:PhenotypicFeature Vertical supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. SNOMEDCT_US:246773002|UMLS:C1843369|UMLS:C0339652 hp.json Vertical gaze palsy http://purl.obolibrary.org/obo/HP_0000511 HP:0012503 biolink:PhenotypicFeature Abnormality of the pituitary gland An anomaly of the pituitary gland. SNOMEDCT_US:399244003|UMLS:C0032002|MSH:D010900 hp.json disorder of pituitary gland http://purl.obolibrary.org/obo/HP_0012503 HP:0012504 biolink:PhenotypicFeature Abnormal size of pituitary gland A deviation from the normal size of the pituitary gland. UMLS:C4022874 hp.json http://purl.obolibrary.org/obo/HP_0012504 HP:0012505 biolink:PhenotypicFeature Enlarged pituitary gland An abnormally increased size of the pituitary gland. UMLS:C0342422|SNOMEDCT_US:237718009 hp.json http://purl.obolibrary.org/obo/HP_0012505 HP:0012506 biolink:PhenotypicFeature Small pituitary gland An abnormally decreased size of the pituitary gland. UMLS:C4022873 hp.json http://purl.obolibrary.org/obo/HP_0012506 HP:0012507 biolink:PhenotypicFeature Weakness of orbicularis oculi muscle Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. UMLS:C1839030 hp.json Weakness of orbicularis oculi muscles http://purl.obolibrary.org/obo/HP_0012507 HP:0012508 biolink:PhenotypicFeature Metamorphopsia A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. MSH:D014786|UMLS:C0271185|SNOMEDCT_US:42134006 hp.json http://purl.obolibrary.org/obo/HP_0012508 HP:0012509 biolink:PhenotypicFeature Reduced thyroxin-binding globulin An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. UMLS:C4022872 hp.json http://purl.obolibrary.org/obo/HP_0012509 HP:0000525 biolink:PhenotypicFeature Abnormality iris morphology An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. UMLS:C4025845 hp.json Abnormality of the iris http://purl.obolibrary.org/obo/HP_0000525 hposlim_core HP:0000524 biolink:PhenotypicFeature Conjunctival telangiectasia The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. UMLS:C0239105|SNOMEDCT_US:231870008 hp.json Small dilated blood vessels near membrane covering front of eye and eyelids|Telangiectasia, conjunctival|Conjunctival telangiectases http://purl.obolibrary.org/obo/HP_0000524 hposlim_core HP:0000527 biolink:PhenotypicFeature Long eyelashes Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). UMLS:C1853738 hp.json Long eyelashes|Ciliary trichomegaly|Unusually long eyelashes|Increased length of eyelashes|Eyelash trichomegaly http://purl.obolibrary.org/obo/HP_0000527 hposlim_core HP:0000526 biolink:PhenotypicFeature Aniridia Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. MSH:D015783|SNOMEDCT_US:69278003|UMLS:C0003076 hp.json Absent iris http://purl.obolibrary.org/obo/HP_0000526 hposlim_core HP:0000529 biolink:PhenotypicFeature Progressive visual loss A reduction of previously attained ability to see. UMLS:C3277697|UMLS:C1839364 hp.json Slowly progressive visual loss|Decreased visual acuity, progressive|Loss of visual acuity|Progressive loss of vision|Vision loss, progressive|Progressive visual acuity loss|Progressive visual impairment|Progressive vision loss|Visual loss, progressive http://purl.obolibrary.org/obo/HP_0000529 hposlim_core HP:0000528 biolink:PhenotypicFeature Anophthalmia Absence of the globe or eyeball. UMLS:C0003119|SNOMEDCT_US:7183006|Fyler:4864|SNOMEDCT_US:204099004|MSH:D000853 hp.json Missing globe of eye|Missing eyeball|Absence of globes of eyes|Absence of eyeballs|No eyeball|No globe of eye|Failure of development of eyeball|Ocular absence|Clinical anophthalmia, unilateral/bilateral|Anophthalmia, clinical http://purl.obolibrary.org/obo/HP_0000528 hposlim_core HP:0000520 biolink:PhenotypicFeature Proptosis An eye that is protruding anterior to the plane of the face to a greater extent than is typical. UMLS:C1862425|UMLS:C1848490|UMLS:C0015300|SNOMEDCT_US:18265008|MSH:D005094|UMLS:C1837760 hp.json Protrusio bulbi|Anterior bulging of the globe of eye|Exophthalmos|Eyeballs bulging out|Bulging eye|Ocular proptosis|Anterior bulging of the globe|Prominent globes|Prominent eyes|Protruding eyes http://purl.obolibrary.org/obo/HP_0000520 hposlim_core HP:0000523 biolink:PhenotypicFeature Subcapsular cataract A cataract that affects the region of the lens directly beneath the capsule of the lens. UMLS:C0235259|SNOMEDCT_US:95723009 hp.json Subcapsular lenticular cataracts|Subcapsular opacities|Subcapsular cataracts http://purl.obolibrary.org/obo/HP_0000523 HP:0000522 biolink:PhenotypicFeature Alacrima Absence of tear secretion. SNOMEDCT_US:253215004|MSH:C562827|UMLS:C0344505 hp.json Absent lacrimal fluids|Absent tear secretion|Absence of tears in the eyes http://purl.obolibrary.org/obo/HP_0000522 hposlim_core HP:0000503 biolink:PhenotypicFeature Tortuosity of conjunctival vessels The presence of an increased number of twists and turns of the conjunctival blood vessels. UMLS:C1855391 hp.json http://purl.obolibrary.org/obo/HP_0000503 HP:0000502 biolink:PhenotypicFeature Abnormal conjunctiva morphology An abnormality of the conjunctiva. UMLS:C4025847 hp.json http://purl.obolibrary.org/obo/HP_0000502 hposlim_core HP:0000505 biolink:PhenotypicFeature Visual impairment Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. UMLS:C0042798|MSH:D014786|SNOMEDCT_US:246635007|SNOMEDCT_US:397540003|UMLS:C3665347|MSH:D015354|SNOMEDCT_US:7973008 hp.json Visual impairment|Impaired vision|Loss of eyesight|Poor vision http://purl.obolibrary.org/obo/HP_0000505 hposlim_core HP:0000504 biolink:PhenotypicFeature Abnormality of vision Abnormality of eyesight (visual perception). UMLS:C4025846 hp.json Abnormality of vision|Abnormality of sight|Vision issue http://purl.obolibrary.org/obo/HP_0000504 hposlim_core HP:0000506 biolink:PhenotypicFeature Telecanthus Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. MSH:C562941|SNOMEDCT_US:246803005|UMLS:C0423113 hp.json Increased distance between medial canthi|Dystopia canthorum|Corners of eye widely separated|Increased intercanthal distance http://purl.obolibrary.org/obo/HP_0000506 hposlim_core HP:0000509 biolink:PhenotypicFeature Conjunctivitis Inflammation of the conjunctiva. UMLS:C1864156|UMLS:C0009763|SNOMEDCT_US:9826008|MSH:D003231 hp.json Pink eye|Conjunctivitis, recurrent http://purl.obolibrary.org/obo/HP_0000509 hposlim_core HP:0000508 biolink:PhenotypicFeature Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). MSH:D001763|SNOMEDCT_US:11934000|UMLS:C0005745 hp.json Eye drop|Blepharoptosis|Drooping upper eyelid|Eyelid ptosis http://purl.obolibrary.org/obo/HP_0000508 hposlim_core HP:0000501 biolink:PhenotypicFeature Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. SNOMEDCT_US:23986001|MSH:D005901|UMLS:C0017601 hp.json http://purl.obolibrary.org/obo/HP_0000501 hposlim_core HP:0012540 biolink:PhenotypicFeature Axillary epidermoid cyst An epidermoid cyst in the armpit. UMLS:C4022859 hp.json Armpit cyst http://purl.obolibrary.org/obo/HP_0012540 HP:0012541 biolink:PhenotypicFeature Cephalohematoma Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum. UMLS:C0007722|SNOMEDCT_US:83095000|SNOMEDCT_US:206200000 hp.json Cephalohaematoma http://purl.obolibrary.org/obo/HP_0012541 HP:0012542 biolink:PhenotypicFeature Onychauxis Thickened nails without deformity. UMLS:C0263536|SNOMEDCT_US:30654002 hp.json http://purl.obolibrary.org/obo/HP_0012542 HP:0012543 biolink:PhenotypicFeature Hemosiderinuria The presence of hemosiderin in the urine. UMLS:C2721579 hp.json http://purl.obolibrary.org/obo/HP_0012543 HP:0012544 biolink:PhenotypicFeature Elevated aldolase level An increased concentration of fructose 1,6-bisphosphate aldolase in the serum. UMLS:C4022858 hp.json http://purl.obolibrary.org/obo/HP_0012544 HP:0012545 biolink:PhenotypicFeature Reduced aldolase level An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum. UMLS:C4022857 hp.json http://purl.obolibrary.org/obo/HP_0012545 HP:0012546 biolink:PhenotypicFeature Skewed maternal X inactivation A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells. UMLS:C4022856 hp.json http://purl.obolibrary.org/obo/HP_0012546 HP:0000558 biolink:PhenotypicFeature Rieger anomaly A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. UMLS:C0265341|SNOMEDCT_US:47507006|MSH:C535679 hp.json http://purl.obolibrary.org/obo/HP_0000558 HP:0000557 biolink:PhenotypicFeature Buphthalmos Diffusely large eye (with megalocornea) associated with glaucoma. MSH:D006871|UMLS:C4551507 hp.json Enlarged eyeball http://purl.obolibrary.org/obo/HP_0000557 hposlim_core HP:0000559 biolink:PhenotypicFeature Corneal scarring UMLS:C0349702|SNOMEDCT_US:95726001|MSH:D065306 hp.json http://purl.obolibrary.org/obo/HP_0000559 HP:0000550 biolink:PhenotypicFeature Undetectable electroretinogram Lack of any response to stimulation upon electroretinography. UMLS:C1855685 hp.json Absent electroretinogram|Extinguished electroretinogram|Extinction of electroretinogram|Undetectable ERG|No light-evoked response on electroretinogram|Abolished electroretinogram http://purl.obolibrary.org/obo/HP_0000550 HP:0000552 biolink:PhenotypicFeature Tritanomaly Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. UMLS:C1970167|SNOMEDCT_US:85049009|SNOMEDCT_US:51886007|MSH:D003117|UMLS:C0155017 hp.json Dyschromatopsia, blue-yellow|Blue/yellow colour vision defect|Blue yellow color blindness|Blue-yellow dyschromatopsia|Blue/yellow color vision defect|Blue yellow colour blindness http://purl.obolibrary.org/obo/HP_0000552 HP:0000551 biolink:PhenotypicFeature Color vision defect An anomaly in the ability to discriminate between or recognize colors. SNOMEDCT_US:367469000|SNOMEDCT_US:23289000|UMLS:C0234629|UMLS:C0009398|MSH:D003117|UMLS:C3552853 hp.json Colour vision defects|Loss in colour vision|Colour vision defect, severe|Disturbed color vision|Colour vision defect|Abnormal colour vision|Abnormal color vision|Color vision defects|Color vision defect, severe|Loss in color vision|Abnormality of colour vision|Abnormality of color vision http://purl.obolibrary.org/obo/HP_0000551 HP:0000554 biolink:PhenotypicFeature Uveitis Inflammation of one or all portions of the uveal tract. UMLS:C0042164|MSH:D014605|SNOMEDCT_US:128473001 hp.json http://purl.obolibrary.org/obo/HP_0000554 hposlim_core HP:0000553 biolink:PhenotypicFeature Abnormal uvea morphology An abnormality of the uvea, the vascular layer of the eyeball. UMLS:C4025842 hp.json Abnormality of the uvea http://purl.obolibrary.org/obo/HP_0000553 HP:0000556 biolink:PhenotypicFeature Retinal dystrophy Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. SNOMEDCT_US:314407005|UMLS:C0854723|MSH:D058499 hp.json Breakdown of light-sensitive cells in back of eye http://purl.obolibrary.org/obo/HP_0000556 HP:0000555 biolink:PhenotypicFeature Leukocoria An abnormal white reflection from the pupil rather than the usual black reflection. SNOMEDCT_US:1361009|UMLS:C0152458 hp.json White pupillary reflex|Leukokoria http://purl.obolibrary.org/obo/HP_0000555 HP:0012547 biolink:PhenotypicFeature Abnormal involuntary eye movements Anomalous movements of the eyes that occur without the subject wanting them to happen. UMLS:C4022855 hp.json http://purl.obolibrary.org/obo/HP_0012547 HP:0012548 biolink:PhenotypicFeature Fatty replacement of skeletal muscle Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers UMLS:C4021082 hp.json Skeletal muscle fatty infiltration http://purl.obolibrary.org/obo/HP_0012548 HP:0012549 biolink:PhenotypicFeature Conjunctival lipoma A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva. UMLS:C4022854|NCIT:C3192 hp.json http://purl.obolibrary.org/obo/HP_0012549 HP:0012530 biolink:PhenotypicFeature Abnormal number of dense granules A deviation from the normal count of dense granules per thrombocyte. UMLS:C4022861 hp.json http://purl.obolibrary.org/obo/HP_0012530 HP:0012531 biolink:PhenotypicFeature Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. SNOMEDCT_US:22253000|UMLS:C0030193|MSH:D010146 hp.json Pain http://purl.obolibrary.org/obo/HP_0012531 HP:0012532 biolink:PhenotypicFeature Chronic pain Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. MSH:D059350|UMLS:C0150055|SNOMEDCT_US:82423001 hp.json Chronic pain|Long-lasting pain http://purl.obolibrary.org/obo/HP_0012532 HP:0012533 biolink:PhenotypicFeature Allodynia Pain due to a stimulus that does not normally provoke pain. UMLS:C0458247|MSH:D006930|SNOMEDCT_US:247404004 hp.json http://purl.obolibrary.org/obo/HP_0012533 HP:0012534 biolink:PhenotypicFeature Dysesthesia Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. MSH:D010292|UMLS:C0392699|SNOMEDCT_US:279079003 hp.json Dysaesthesia|Hyperpathia|Dysesthesias|Hyperalgesia http://purl.obolibrary.org/obo/HP_0012534 HP:0012535 biolink:PhenotypicFeature Abnormal synaptic transmission An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. UMLS:C4021083 hp.json Abnormality of neurotransmitter metabolism http://purl.obolibrary.org/obo/HP_0012535 HP:0000568 biolink:PhenotypicFeature Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes. Fyler:4877|MSH:D008850|SNOMEDCT_US:204108000|SNOMEDCT_US:61142002|UMLS:C0026010|UMLS:C4280808|UMLS:C4280625 hp.json Abnormally small globe of eye|Decreased size of eyeball|Microphthalmos|Abnormally small eyeball|Nanophthalmos|Decreased size of globe of eye http://purl.obolibrary.org/obo/HP_0000568 hposlim_core HP:0000561 biolink:PhenotypicFeature Absent eyelashes Lack of eyelashes. UMLS:C4280627|UMLS:C4280626|UMLS:C1843005 hp.json Failure of development of eyelashes|Absent eyelashes|Agenesis of eyelashes|Aplasia of eyelashes|Atrichia of eyelashes http://purl.obolibrary.org/obo/HP_0000561 hposlim_core HP:0000563 biolink:PhenotypicFeature Keratoconus A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. MSH:D007640|SNOMEDCT_US:65636009|UMLS:C0022578 hp.json Conical cornea|Bulging cornea http://purl.obolibrary.org/obo/HP_0000563 hposlim_core HP:0000565 biolink:PhenotypicFeature Esotropia A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. MSH:D004948|SNOMEDCT_US:16596007|UMLS:C0014877 hp.json Inward turning cross eyed http://purl.obolibrary.org/obo/HP_0000565 hposlim_core HP:0000564 biolink:PhenotypicFeature Lacrimal duct atresia A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. SNOMEDCT_US:278530008|UMLS:C0344511 hp.json Nasolacrimal duct atresia|Imperforate nasolacrimal ducts|Unopened tear duct http://purl.obolibrary.org/obo/HP_0000564 HP:0000567 biolink:PhenotypicFeature Chorioretinal coloboma Absence of a region of the retina, retinal pigment epithelium, and choroid. SNOMEDCT_US:39302008|UMLS:C0240896 hp.json Birth defect that causes a hole in the innermost layer at the back of the eye|Choroid coloboma|Coloboma of choroid|Choroidal coloboma|Choroidoretinal coloboma http://purl.obolibrary.org/obo/HP_0000567 HP:0012536 biolink:PhenotypicFeature Maternal anticardiolipin antibody positive The presence of circulating autoantibodies to anticardiolipin in the mother. UMLS:C4022860 hp.json http://purl.obolibrary.org/obo/HP_0012536 HP:0012537 biolink:PhenotypicFeature Food intolerance A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. UMLS:C0149696|SNOMEDCT_US:235719002 hp.json Food intolerance|Non-allergic food hypersensitivity http://purl.obolibrary.org/obo/HP_0012537 HP:0012538 biolink:PhenotypicFeature Gluten intolerance A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease. SNOMEDCT_US:441831003|UMLS:C0850024|MSH:D002446|UMLS:C0007570|SNOMEDCT_US:396331005 hp.json Gluten intolerance|Gluten sensitivity http://purl.obolibrary.org/obo/HP_0012538 HP:0012539 biolink:PhenotypicFeature Non-Hodgkin lymphoma A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. MSH:D008228|SNOMEDCT_US:128929007|SNOMEDCT_US:118601006|SNOMEDCT_US:1929004|UMLS:C0024305|SNOMEDCT_US:188675007 hp.json http://purl.obolibrary.org/obo/HP_0012539 HP:0012520 biolink:PhenotypicFeature Dilation of Virchow-Robin spaces Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. UMLS:C1853618|UMLS:C4020719 hp.json Dilated Virchow-Robin spaces|Dilated cerebral perivascular spaces|Perivascular spaces http://purl.obolibrary.org/obo/HP_0012520 HP:0012521 biolink:PhenotypicFeature Optic nerve aplasia Congenital absence of the optic nerve. UMLS:C4021084 hp.json Absent optic nerve|Aplastic optic nerve http://purl.obolibrary.org/obo/HP_0012521 HP:0012522 biolink:PhenotypicFeature Spider hemangioma A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. UMLS:C4022867 hp.json http://purl.obolibrary.org/obo/HP_0012522 HP:0012523 biolink:PhenotypicFeature Oral aversion Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing). UMLS:C3665983 hp.json http://purl.obolibrary.org/obo/HP_0012523 HP:0012524 biolink:PhenotypicFeature Abnormal platelet shape A deviation from the normal discoid platelet shape. UMLS:C4022866 hp.json http://purl.obolibrary.org/obo/HP_0012524 OBO:uberon/core#channels_from biolink:NamedThing channels_from hp.json http://purl.obolibrary.org/obo/uberon/core#channels_from HP:0000535 biolink:PhenotypicFeature obsolete Sparse and thin eyebrow hp.json http://purl.obolibrary.org/obo/HP_0000535 HP:0000538 biolink:PhenotypicFeature Pseudopapilledema Apparent optic disc swelling in the absence of increased intracranial pressure. MSH:C562401|SNOMEDCT_US:57138009|UMLS:C0155300 hp.json http://purl.obolibrary.org/obo/HP_0000538 hposlim_core HP:0000537 biolink:PhenotypicFeature Epicanthus inversus A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. UMLS:C1303003|SNOMEDCT_US:400956000 hp.json http://purl.obolibrary.org/obo/HP_0000537 hposlim_core HP:0000539 biolink:PhenotypicFeature Abnormality of refraction An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. UMLS:C4025843 hp.json http://purl.obolibrary.org/obo/HP_0000539 HP:0000532 biolink:PhenotypicFeature Abnormal chorioretinal morphology An abnormality of the choroid and retina. UMLS:C4025844 hp.json Chorioretinal abnormality http://purl.obolibrary.org/obo/HP_0000532 HP:0000531 biolink:PhenotypicFeature Corneal crystals UMLS:C1096610 hp.json Corneal deposits http://purl.obolibrary.org/obo/HP_0000531 HP:0000534 biolink:PhenotypicFeature Abnormal eyebrow morphology An abnormality of the eyebrow. UMLS:C4011556 hp.json Abnormality of the eyebrow http://purl.obolibrary.org/obo/HP_0000534 hposlim_core HP:0000533 biolink:PhenotypicFeature Chorioretinal atrophy Atrophy of the choroid and retinal layers of the fundus. UMLS:C4048273|SNOMEDCT_US:95686007 hp.json Chorioretinal thinning http://purl.obolibrary.org/obo/HP_0000533 HP:0012525 biolink:PhenotypicFeature Abnormal alpha granule distribution An anomalous location and arrangement of platelet alpha granules. UMLS:C4022865 hp.json http://purl.obolibrary.org/obo/HP_0012525 HP:0012526 biolink:PhenotypicFeature Absence of alpha granules A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. UMLS:C4022864 hp.json Grey platelets|Gray platelets http://purl.obolibrary.org/obo/HP_0012526 HP:0012527 biolink:PhenotypicFeature Abnormal alpha granule content A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. UMLS:C4022863 hp.json http://purl.obolibrary.org/obo/HP_0012527 HP:0012528 biolink:PhenotypicFeature Abnormal number of alpha granules A deviation from the normal count of alpha granules per thrombocyte. UMLS:C4022862 hp.json http://purl.obolibrary.org/obo/HP_0012528 HP:0012529 biolink:PhenotypicFeature Abnormal dense granule content A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. UMLS:C4021839 hp.json http://purl.obolibrary.org/obo/HP_0012529 HP:0012510 biolink:PhenotypicFeature Extra-axial cerebrospinal fluid accumulation An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. UMLS:C4022871 hp.json Extra-axial CSF accumulation http://purl.obolibrary.org/obo/HP_0012510 HP:0012511 biolink:PhenotypicFeature Temporal optic disc pallor A pale yellow discoloration of the temporal (lateral) portion of the optic disc. UMLS:C0344299|SNOMEDCT_US:247220006 hp.json http://purl.obolibrary.org/obo/HP_0012511 HP:0012512 biolink:PhenotypicFeature Diffuse optic disc pallor A pale yellow discoloration of the entire optic disc. UMLS:C4022870 hp.json http://purl.obolibrary.org/obo/HP_0012512 HP:0012513 biolink:PhenotypicFeature Upper limb pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm. SNOMEDCT_US:102556003|UMLS:C0239377 hp.json Upper limb pain http://purl.obolibrary.org/obo/HP_0012513 HP:0000547 biolink:PhenotypicFeature obsolete Tapetoretinal degeneration hp.json Retinotapetal degeneration http://purl.obolibrary.org/obo/HP_0000547 HP:0000546 biolink:PhenotypicFeature Retinal degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. MSH:D012162|SNOMEDCT_US:95695004|UMLS:C0035304 hp.json Retina degeneration http://purl.obolibrary.org/obo/HP_0000546 hposlim_core HP:0000549 biolink:PhenotypicFeature Abnormal conjugate eye movement Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. UMLS:C1845274 hp.json Disconjugate eye movements http://purl.obolibrary.org/obo/HP_0000549 HP:0000548 biolink:PhenotypicFeature Cone/cone-rod dystrophy MSH:D012174 hp.json Cone-rod retinal dystrophy|Cone rod dystrophy http://purl.obolibrary.org/obo/HP_0000548 CHEBI:8504 biolink:ChemicalSubstance prostanoic acid A carbocyclic fatty acid composed of heptanoic acid having a (1S,2S)-2-octylcyclopentyl substituent at position 7. Reaxys:5744307|Beilstein:5744307|KEGG:C02064|LIPID_MAPS_instance:LMFA03010000|PMID:6234649 hp.json prostan-1-oic acid|7-[(1S,2S)-2-octylcyclopentyl]heptanoic acid|Prostanoic acid http://purl.obolibrary.org/obo/CHEBI_8504 3_STAR HP:0000541 biolink:PhenotypicFeature Retinal detachment Separation of the inner layers of the retina (neural retina) from the pigment epithelium. MSH:D012163|SNOMEDCT_US:42059000|UMLS:C0035305 hp.json Retinal detachment|Detached retina http://purl.obolibrary.org/obo/HP_0000541 hposlim_core HP:0000540 biolink:PhenotypicFeature Hypermetropia An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. UMLS:C0020490|MSH:D006956|SNOMEDCT_US:38101003 hp.json Long-sightedness|Hyperopia|Farsightedness http://purl.obolibrary.org/obo/HP_0000540 hposlim_core HP:0000543 biolink:PhenotypicFeature Optic disc pallor A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. UMLS:C0554970|SNOMEDCT_US:302200001 hp.json Disc pallor|Pale optic disk|Pale optic discs|Pale optic disc http://purl.obolibrary.org/obo/HP_0000543 hposlim_core HP:0000542 biolink:PhenotypicFeature Impaired ocular adduction Reduced ability to move the eye in the direction of the nose. UMLS:C1846463 hp.json http://purl.obolibrary.org/obo/HP_0000542 HP:0000545 biolink:PhenotypicFeature Myopia An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. UMLS:C0027092|MSH:D009216|SNOMEDCT_US:57190000 hp.json Near sightedness|Nearsightedness|Close sighted|Near sighted http://purl.obolibrary.org/obo/HP_0000545 hposlim_core HP:0000544 biolink:PhenotypicFeature External ophthalmoplegia Paralysis of the external ocular muscles. MSH:D017246|MSH:D009886|SNOMEDCT_US:19373007|UMLS:C0162292|UMLS:C0162674|SNOMEDCT_US:46252003 hp.json Progressive paralysis or weakness of muscles of eye movement|Paralysis or weakness of muscles within or surrounding outer part of eye|Chronic progressive external ophthalmoplegia|Progressive paralysis or weakness of muscles of eye motility|Ophthalmoplegia externa|CPEO http://purl.obolibrary.org/obo/HP_0000544 HP:0012514 biolink:PhenotypicFeature Lower limb pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. UMLS:C0023222|SNOMEDCT_US:10601006 hp.json Leg pain|Lower limb pain http://purl.obolibrary.org/obo/HP_0012514 HP:0012515 biolink:PhenotypicFeature Hip flexor weakness Reduced ability to flex the femur, that is, to pull the knee upward. UMLS:C3279725 hp.json http://purl.obolibrary.org/obo/HP_0012515 HP:0012516 biolink:PhenotypicFeature Tetralogy of Fallot with pulmonary atresia An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. SNOMEDCT_US:253513005|UMLS:C0344882 hp.json http://purl.obolibrary.org/obo/HP_0012516 HP:0012517 biolink:PhenotypicFeature Reduced catalase level An abnormally decreased amount of catalase level. UMLS:C4022869 hp.json http://purl.obolibrary.org/obo/HP_0012517 HP:0012518 biolink:PhenotypicFeature Abnormal circle of Willis morphology An anomaly of the circle of Willis, also known as the cerebral arterial circle. UMLS:C4022868 hp.json Abnormality of the cerebral arterial circle http://purl.obolibrary.org/obo/HP_0012518 HP:0012519 biolink:PhenotypicFeature Hypoplastic posterior communicating artery Underdeveloped posterior communicating artery. UMLS:C4020720 hp.json Hypoplastic posterior communicating arteries http://purl.obolibrary.org/obo/HP_0012519 CHEBI:30769 biolink:ChemicalSubstance citric acid A tricarboxylic acid that is propane-1,2,3-tricarboxylic acid bearing a hydroxy substituent at position 2. It is an important metabolite in the pathway of all aerobic organisms. PMID:17357118|BPDB:1359|PMID:19288211|PMID:18298573|PMID:22509852|PMID:22115968|HMDB:HMDB0000094|KEGG:C00158|Gmelin:4240|CAS:77-92-9|PMID:22264346|KEGG:D00037|Beilstein:782061|PMID:11762832|Drug_Central:666|PMID:17190852|DrugBank:DB04272|CAS:77-92-9|Reaxys:782061|CAS:77-92-9|MetaCyc:CIT|PMID:11782123|PMID:15311880|PMID:14537820|Wikipedia:Citric_Acid|PMID:22373571|PMID:16232627|PMID:11857437|KNApSAcK:C00007619|PDBeChem:CIT|PMID:22192423|PMID:17604395|PMID:18960216|PMID:15934243 hp.json Citronensaeure|2-hydroxypropane-1,2,3-tricarboxylic acid|Citric acid|E330|2-Hydroxytricarballylic acid|CITRIC ACID|2-Hydroxy-1,2,3-propanetricarboxylic acid|H3cit|3-Carboxy-3-hydroxypentane-1,5-dioic acid http://purl.obolibrary.org/obo/CHEBI_30769 3_STAR CHEBI:88071 biolink:ChemicalSubstance monosialodiglycosylceramide(1-) An anionic ganglioside in which the oligosaccharide portion is composed of a disaccharide, to which one sialic acid residue is attached. hp.json http://purl.obolibrary.org/obo/CHEBI_88071 3_STAR CHEBI:30768 biolink:ChemicalSubstance propionic acid A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group. CAS:79-09-4|Beilstein:506071|PDBeChem:PPI|PMID:1628870|Gmelin:1821|KEGG:D02310|PPDB:1341|KEGG:C00163|PMID:16763906|CAS:79-09-4|DrugBank:DB03766|LIPID_MAPS_instance:LMFA01010003|CAS:79-09-4|PMID:15868474 hp.json ethanecarboxylic acid|acide propanoique|acide propionique|metacetonic acid|Propanoic acid|Propionic acid|pseudoacetic acid|propioic acid|methylacetic acid|ethylformic acid|propoic acid|PROPANOIC ACID|propanoic acid|Propionsaeure|carboxyethane|CH3-CH2-COOH|propionic acid|PA http://purl.obolibrary.org/obo/CHEBI_30768 3_STAR GO:1904319 biolink:BiologicalProcess negative regulation of smooth muscle contraction involved in micturition Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle contraction involved in micturition. hp.json downregulation of smooth muscle contraction involved in urination|down regulation of urinary bladder smooth muscle contraction involved in micturition|down-regulation of smooth muscle contraction involved in micturition|inhibition of smooth muscle contraction involved in urination|downregulation of urinary bladder smooth muscle contraction involved in micturition|down regulation of smooth muscle contraction involved in micturition|down-regulation of smooth muscle contraction involved in urination|negative regulation of smooth muscle contraction involved in urination|inhibition of smooth muscle contraction involved in micturition|downregulation of smooth muscle contraction involved in micturition|inhibition of urinary bladder smooth muscle contraction involved in micturition|down regulation of smooth muscle contraction involved in urination|down-regulation of urinary bladder smooth muscle contraction involved in micturition|negative regulation of urinary bladder smooth muscle contraction involved in micturition http://purl.obolibrary.org/obo/GO_1904319 GO:1904318 biolink:BiologicalProcess regulation of smooth muscle contraction involved in micturition Any process that modulates the frequency, rate or extent of smooth muscle contraction involved in micturition. hp.json regulation of urinary bladder smooth muscle contraction involved in micturition|regulation of smooth muscle contraction involved in urination http://purl.obolibrary.org/obo/GO_1904318 CL:0000646 biolink:Cell basal cell Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament. BTO:0000939|FMA:62516 hp.json http://purl.obolibrary.org/obo/CL_0000646 UBERON:0010543 biolink:AnatomicalEntity acropodial skeleton The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. FMA:231315|VSAO:0005028 hp.json phalangeal skeleton|acropodial skeleton|acropodium|skeletal parts of acropodium|skeleton of digits|set of phalanges|skeletal parts of acropodial region|digits skeleton|acropodium skeleton|digital skeleton http://purl.obolibrary.org/obo/UBERON_0010543 CL:0000649 biolink:Cell prickle cell A cell with delicate radiating processes known as desmosomes that form intercellular bridges between other cells of this type. This cell type forms the stratum spinosum (prickle cell layer). A function of this cell is to generate keratin. FMA:69059 hp.json prickle cell of epidermis http://purl.obolibrary.org/obo/CL_0000649 UBERON:0010540 biolink:AnatomicalEntity tarsus pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a tarsal bone. EHDAA2:0001978 hp.json http://purl.obolibrary.org/obo/UBERON_0010540 UBERON:0010541 biolink:AnatomicalEntity tarsus cartilage element A cartilaginous condensation that has the potential to develop into a tarsal bone. EHDAA2:0001977 hp.json http://purl.obolibrary.org/obo/UBERON_0010541 UBERON:0010535 biolink:AnatomicalEntity primitive metanephric nephron A primitive nephron that is part of a metanephros. EHDAA2:0001516 hp.json primitive metanephric nephron|primitive nephron|developing metanephric nephron http://purl.obolibrary.org/obo/UBERON_0010535 GO:1904320 biolink:BiologicalProcess positive regulation of smooth muscle contraction involved in micturition Any process that activates or increases the frequency, rate or extent of smooth muscle contraction involved in micturition. hp.json up-regulation of urinary bladder smooth muscle contraction involved in micturition|up regulation of urinary bladder smooth muscle contraction involved in micturition|upregulation of smooth muscle contraction involved in urination|activation of smooth muscle contraction involved in urination|positive regulation of urinary bladder smooth muscle contraction involved in micturition|up-regulation of smooth muscle contraction involved in micturition|up regulation of smooth muscle contraction involved in micturition|activation of smooth muscle contraction involved in micturition|upregulation of urinary bladder smooth muscle contraction involved in micturition|activation of urinary bladder smooth muscle contraction involved in micturition|up-regulation of smooth muscle contraction involved in urination|up regulation of smooth muscle contraction involved in urination|upregulation of smooth muscle contraction involved in micturition|positive regulation of smooth muscle contraction involved in urination http://purl.obolibrary.org/obo/GO_1904320 UBERON:0010536 biolink:AnatomicalEntity nephron progenitor hp.json http://purl.obolibrary.org/obo/UBERON_0010536 UBERON:0010533 biolink:AnatomicalEntity metanephros cortex The metanephric cortex is the outer region of the metanephros[GO]. VHOG:0000714 hp.json http://purl.obolibrary.org/obo/UBERON_0010533 UBERON:0009559 biolink:AnatomicalEntity metacarpal/tarsal-phalangeal joint A skeletal joint that connects a mesopodium bone and connects a proximal phalanx. hp.json metapodial-phalangeal joint|metapodium-phalanx joint|metacarpo-tarsophalangeal joint|fetlock http://purl.obolibrary.org/obo/UBERON_0009559 UBERON:0010534 biolink:AnatomicalEntity primitive mesonephric nephron Anatomical cluster which give rise to mature mesonephric nephrons. Zebrafish continously generate new mesonephric nephrons. ZFA:0005584 hp.json primitive mesonephric nephron|developing mesonephric nephron http://purl.obolibrary.org/obo/UBERON_0010534 UBERON:0010537 biolink:AnatomicalEntity mesonephric nephron progenitor Cluster of cells comprising a portion of tissue which gives rise to new mesonephric nephrons. The cluster contains self-renewing stem cells. ZFA:0005587 hp.json http://purl.obolibrary.org/obo/UBERON_0010537 CL:0000642 biolink:Cell folliculostellate cell A supportive cell of the vertebrate pituitary that provides macromolecular transport and secretes hormones. hp.json http://purl.obolibrary.org/obo/CL_0000642 UBERON:0010538 biolink:AnatomicalEntity paired limb/fin segment An appendage segment that is part of a limb/fin. hp.json limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010538 homology_grouping UBERON:0009550 biolink:AnatomicalEntity endoderm of foregut-midgut junction An endoderm that is part of a foregut-midgut junction. EMAPA:18403|EHDAA2:0000572 hp.json http://purl.obolibrary.org/obo/UBERON_0009550 emapa_ehdaa2 UBERON:0009551 biolink:AnatomicalEntity distal segment of digit A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). hp.json tip of digit|digit tip|distal digit segment http://purl.obolibrary.org/obo/UBERON_0009551 UBERON:0009552 biolink:AnatomicalEntity distal segment of manual digit A segment of the manual digit containing the distal phalanx. OpenCyc:Mx4rvVjpf5wpEbGdrcN5Y29ycA hp.json finger distal segment|tip of finger|finger tip|forelimb digit tip|finger digit tip|fingertip http://purl.obolibrary.org/obo/UBERON_0009552 pheno_slim UBERON:0009553 biolink:AnatomicalEntity distal segment of pedal digit A segment of the pedal digit containing the distal phalanx. Note this class represents a digit segment and thus includes tissues in addition to bone. hp.json toe distal segment|tip of toe|P3 segment of pedal digit|toe digit tip|hindlimb digit tip|distalmost part of toe http://purl.obolibrary.org/obo/UBERON_0009553 CHEBI:30776 biolink:ChemicalSubstance hexanoic acid A C6, straight-chain saturated fatty acid. CAS:142-62-1|PMID:10685018|Beilstein:773837|KEGG:C01585|HMDB:HMDB0000535|PMID:24357269|Reaxys:773837|YMDB:YMDB01424|ECMDB:ECMDB21229|LIPID_MAPS_instance:LMFA01010006|MetaCyc:HEXANOATE|Gmelin:185066|KNApSAcK:C00001218|Wikipedia:Hexanoic_acid|CAS:142-62-1|PMID:24924750|CAS:142-62-1|PMID:1556177|PDBeChem:6NA hp.json 1-pentanecarboxylic acid|Hexylic acid|6:0|capronic acid|CH3-[CH2]4-COOH|n-Caproic acid|C6:0|n-hexylic acid|Hexanoic acid|hexoic acid|pentiformic acid|pentylformic acid|n-hexanoic acid|1-hexanoic acid|n-hexoic acid|HEXANOIC ACID|caproic acid|butylacetic acid|Hexanoate|Pentanecarboxylic acid|hexanoic acid http://purl.obolibrary.org/obo/CHEBI_30776 3_STAR CL:0000656 biolink:Cell primary spermatocyte A diploid cell that has derived from a spermatogonium and can subsequently begin meiosis and divide into two haploid secondary spermatocytes. CALOHA:TS-2194|BTO:0001115|FMA:72292 hp.json http://purl.obolibrary.org/obo/CL_0000656 CL:0000657 biolink:Cell secondary spermatocyte One of the two haploid cells into which a primary spermatocyte divides, and which in turn gives origin to spermatids. CALOHA:TS-2195|BTO:0000709|FMA:72293|FBbt:00004941 hp.json http://purl.obolibrary.org/obo/CL_0000657 UBERON:0010531 biolink:AnatomicalEntity metanephros induced blastemal cells VHOG:0001241|EHDAA:7007|EHDAA:8105|EHDAA2:0001143|EMAPA:17953|MA:0002998|EMAPA:27621 hp.json peripheral blastema|cap mesenchyme of metanephros of urinary system|induced blastemal cells|nephrogenic interstitium|nephrogenic interstitium of nephrogenic zone http://purl.obolibrary.org/obo/UBERON_0010531 UBERON:0010532 biolink:AnatomicalEntity primitive nephron An epithelial tube that is fated to become a nephron. hp.json presumptive nephron|primitive nephron|developing nephron|future nephron http://purl.obolibrary.org/obo/UBERON_0010532 GO:0062125 biolink:BiologicalProcess regulation of mitochondrial gene expression Any process that modulates the frequency, rate or extent of mitochondrial gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). hp.json http://purl.obolibrary.org/obo/GO_0062125 UBERON:0009548 biolink:AnatomicalEntity hepatic sinusoid of left of lobe of liver A hepatic sinusoid that is part of a left lobe of liver. EHDAA2:0001001|EMAPA:18309|VHOG:0000709 hp.json left lobe hepatic sinusoids http://purl.obolibrary.org/obo/UBERON_0009548 emapa_ehdaa2 UBERON:0010522 biolink:AnatomicalEntity replacement element Skeletal element that forms as a replacement or substitution of another element or tissue. ZFA:0005624|XAO:0004016|VSAO:0000135 hp.json http://purl.obolibrary.org/obo/UBERON_0010522 CL:0000650 biolink:Cell mesangial cell A cell type that encapsulates the capillaries and venules in the kidney. This cell secretes mesangial matrix that provides the structural support for the capillaries. FMA:70972|CALOHA:TS-0617|BTO:0000853 hp.json kidney mesangial cell http://purl.obolibrary.org/obo/CL_0000650 UBERON:0010523 biolink:AnatomicalEntity microcirculatory vessel A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. MESH:A07.231.432|TAO:0005251|MESH:D055806|ZFA:0005251 hp.json microcirculatory vessels http://purl.obolibrary.org/obo/UBERON_0010523 UBERON:0009549 biolink:AnatomicalEntity hepatic sinusoid of right of lobe of liver A hepatic sinusoid that is part of a right lobe of liver. VHOG:0000710|EMAPA:18316|EHDAA2:0001009 hp.json right lobe hepatic sinusoids http://purl.obolibrary.org/obo/UBERON_0009549 emapa_ehdaa2 UBERON:0010528 biolink:AnatomicalEntity pneumatic cavity of bone FMA:24028 hp.json air space of bone http://purl.obolibrary.org/obo/UBERON_0010528 CL:0000652 biolink:Cell pinealocyte This cell type produces and secretes melatonin and forms the pineal parenchyma. Extending from each cell body, which has a spherical, oval or lobulated mucleus, are one or more tortuous basophilic processes, containing parallel microtubules known as synaptic ribbons. These processes end in expanded terminal buds near capillaries or less, frequently, ependymal cells of the pineal recess. The terminal buds contain granular endoplasmic reticulum, mitochondria and electron-dense cored vesicles, which store monoamines and polypeptide hormones, release of which appears to require sympathetic innervation. BTO:0001068|FMA:83417 hp.json http://purl.obolibrary.org/obo/CL_0000652 UBERON:0010527 biolink:AnatomicalEntity cavity of bone organ An organ cavity that surrounded_by a bone. FMA:24021 hp.json bone organ cavity http://purl.obolibrary.org/obo/UBERON_0010527 CHEBI:30772 biolink:ChemicalSubstance butyric acid A straight-chain saturated fatty acid that is butane in which one of the terminal methyl groups has been oxidised to a carboxy group. CAS:107-92-6|PMID:22322557|PMID:22194341|PMID:19703412|PMID:19318247|PMID:11208715|PMID:15810631|HMDB:HMDB0000039|CAS:107-92-6|PMID:22038864|PMID:14962641|PMID:13678314|Wikipedia:Butyric_acid|CAS:107-92-6|PMID:11238216|PMID:12068484|PMID:15809727|MetaCyc:BUTYRIC_ACID|KNApSAcK:C00001180|PDBeChem:BUA|LIPID_MAPS_instance:LMFA01010004|PMID:22466881|PMID:11201044|DrugBank:DB03568|PMID:11305323|PMID:10956204|PMID:10736622|PMID:19366864|Beilstein:906770|PMID:21699495|Reaxys:906770|PMID:22339023|Gmelin:26242|PMID:1542095|KEGG:C00246|PMID:15938880 hp.json n-butanoic acid|1-butanoic acid|acide butyrique|4:0|Butanoic acid|1-butyric acid|propylformic acid|propanecarboxylic acid|Butanoate|C4:0|Butyric acid|butoic acid|butanic acid|BUTANOIC ACID|butanoic acid|acide butanoique|Buttersaeure|n-butyric acid|butyric acid|1-propanecarboxylic acid|ethylacetic acid|CH3-[CH2]2-COOH http://purl.obolibrary.org/obo/CHEBI_30772 3_STAR CHEBI:30745 biolink:ChemicalSubstance phenylacetic acid A monocarboxylic acid that is toluene in which one of the hydrogens of the methyl group has been replaced by a carboxy group. PMID:24631718|YMDB:YMDB00891|PMID:15057459|PMID:17622769|PMID:12147706|Drug_Central:4624|KEGG:C07086|KNApSAcK:C00000750|PMID:7544181|ECMDB:ECMDB04128|Beilstein:1099647|CAS:103-82-2|HMDB:HMDB0000209|Reaxys:1099647|Gmelin:68976|CAS:103-82-2|PMID:15646820|PMID:12569987|PDBeChem:PAC|CAS:103-82-2|PMID:24587751|MetaCyc:PHENYLACETATE|PMID:15506622|Wikipedia:Phenylacetic_acid|PMID:7716788|PMID:2083978 hp.json PA|2-Phenylethanoic acid|phenylacetic acid|benzeneacetic acid|Benzeneacetic acid|Phenylacetic acid|alpha-toluic acid|Omega-Phenylacetic acid|2-PHENYLACETIC ACID|omega-phenylacetic acid|Benzylformic acid http://purl.obolibrary.org/obo/CHEBI_30745 3_STAR UBERON:2005273 biolink:AnatomicalEntity intestinal mucosal muscle A thin layer of smooth muscle immediately beneath the base of the villi which permits the intestinal mucosa to dynamically move and fold. ZFA:0005273 hp.json intestinal lamina muscularis mucosae http://purl.obolibrary.org/obo/UBERON_2005273 CL:0000622 biolink:Cell acinar cell A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus). FMA:83625 hp.json acinous cell|acinic cell http://purl.obolibrary.org/obo/CL_0000622 CL:0000623 biolink:Cell natural killer cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. FMA:83601|BTO:0004716|FMA:63147|VHOG:0001697|CALOHA:TS-0664|BTO:0000914 hp.json large granular lymphocyte|NK cell|null cell http://purl.obolibrary.org/obo/CL_0000623 CL:0000624 biolink:Cell CD4-positive, alpha-beta T cell A mature alpha-beta T cell that expresses an alpha-beta T cell receptor and the CD4 coreceptor. hp.json CD4-positive, alpha-beta T-cell|CD4-positive, alpha-beta T lymphocyte|CD4-positive, alpha-beta T-lymphocyte http://purl.obolibrary.org/obo/CL_0000624 CL:0000625 biolink:Cell CD8-positive, alpha-beta T cell A T cell expressing an alpha-beta T cell receptor and the CD8 coreceptor. hp.json CD8-positive, alpha-beta T-cell|CD8-positive, alpha-beta T lymphocyte|CD8-positive, alpha-beta T-lymphocyte http://purl.obolibrary.org/obo/CL_0000625 CL:0000626 biolink:Cell olfactory granule cell Granule cell that is part of the olfactory bulb. hp.json http://purl.obolibrary.org/obo/CL_0000626 GO:1904343 biolink:BiologicalProcess positive regulation of colon smooth muscle contraction Any process that activates or increases the frequency, rate or extent of colon smooth muscle contraction. hp.json up-regulation of colon smooth muscle contraction|up regulation of colon smooth muscle contraction|activation of colon smooth muscle contraction|upregulation of colon smooth muscle contraction http://purl.obolibrary.org/obo/GO_1904343 GO:1904342 biolink:BiologicalProcess negative regulation of colon smooth muscle contraction Any process that stops, prevents or reduces the frequency, rate or extent of colon smooth muscle contraction. hp.json down regulation of colon smooth muscle contraction|downregulation of colon smooth muscle contraction|inhibition of colon smooth muscle contraction|down-regulation of colon smooth muscle contraction http://purl.obolibrary.org/obo/GO_1904342 UBERON:0009536 biolink:AnatomicalEntity vascular element of left lung A vascular plexus that is part of a left lung. EHDAA2:0000963|EMAPA:17660 hp.json http://purl.obolibrary.org/obo/UBERON_0009536 emapa_ehdaa2 GO:1904341 biolink:BiologicalProcess regulation of colon smooth muscle contraction Any process that modulates the frequency, rate or extent of colon smooth muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_1904341 UBERON:0009537 biolink:AnatomicalEntity vascular element of right lung A vascular plexus that is part of a right lung. EMAPA:17668|EHDAA2:0001757 hp.json http://purl.obolibrary.org/obo/UBERON_0009537 emapa_ehdaa2 UBERON:0009538 biolink:AnatomicalEntity mesenchyme of sublingual gland primordium Mesenchyme that is part of a sublingual gland primordium. EHDAA2:0001937|EMAPA:17754 hp.json http://purl.obolibrary.org/obo/UBERON_0009538 emapa_ehdaa2 UBERON:0009539 biolink:AnatomicalEntity mesenchyme of submandibular gland primordium Mesenchyme that is part of a submandibular gland primordium. EMAPA:17757|EHDAA2:0001941 hp.json submaxillary gland primordium mesenchyme http://purl.obolibrary.org/obo/UBERON_0009539 emapa_ehdaa2 UBERON:2005260 biolink:AnatomicalEntity fenestrated capillary Capillary that has pores in the endothelial cells (60-80 nm in diameter) that are spanned by a diaphragm of radially oriented fibrils and allow small molecules and limited amounts of protein to diffuse. NCIT:C32595|UMLS:C1179615|Wikipedia:Capillary#Types|ZFA:0005260|FMA:63196|TAO:0005260 hp.json fenestrated capillary vessel|fenestrated blood vessel endothelium http://purl.obolibrary.org/obo/UBERON_2005260 GO:0015807 biolink:BiologicalProcess L-amino acid transport The directed movement of L-enantiomer amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0015807 GO:1904349 biolink:BiologicalProcess positive regulation of small intestine smooth muscle contraction Any process that activates or increases the frequency, rate or extent of small intestine smooth muscle contraction. hp.json up-regulation of small intestine smooth muscle contraction|up regulation of small intestine smooth muscle contraction|activation of small intestine smooth muscle contraction|upregulation of small intestine smooth muscle contraction http://purl.obolibrary.org/obo/GO_1904349 GO:1904348 biolink:BiologicalProcess negative regulation of small intestine smooth muscle contraction Any process that stops, prevents or reduces the frequency, rate or extent of small intestine smooth muscle contraction. hp.json down regulation of small intestine smooth muscle contraction|inhibition of small intestine smooth muscle contraction|downregulation of small intestine smooth muscle contraction|down-regulation of small intestine smooth muscle contraction http://purl.obolibrary.org/obo/GO_1904348 CL:0000636 biolink:Cell Mueller cell Astrocyte-like radial glial cell that extends vertically throughout the retina, with the nucleus are usually in the middle of the inner nuclear layer. BTO:0003064 hp.json Muller glia|Müller cell http://purl.obolibrary.org/obo/CL_0000636 GO:1904347 biolink:BiologicalProcess regulation of small intestine smooth muscle contraction Any process that modulates the frequency, rate or extent of small intestine smooth muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_1904347 CL:0000637 biolink:Cell chromophil cell of anterior pituitary gland A cell that stains readily in the anterior pituitary gland. FMA:83089 hp.json http://purl.obolibrary.org/obo/CL_0000637 GO:1904346 biolink:BiologicalProcess positive regulation of gastric mucosal blood circulation Any process that activates or increases the frequency, rate or extent of gastric mucosal blood circulation. hp.json activation of stomach mucosal blood circulation|positive regulation of stomach mucosal blood circulation|up-regulation of gastric mucosal blood circulation|up regulation of gastric mucosal blood circulation|upregulation of stomach mucosal blood circulation|activation of gastric mucosal blood circulation|upregulation of gastric mucosal blood circulation|up-regulation of stomach mucosal blood circulation|up regulation of stomach mucosal blood circulation http://purl.obolibrary.org/obo/GO_1904346 CL:0000638 biolink:Cell acidophil cell of pars distalis of adenohypophysis An acidophilic chromophil cell that of the anterior pituitary gland. FMA:83093 hp.json acidophil cell of pars anterior of adenohypophysis|acidophil of pars anterior of adenohypophysis|acidophil of pars distalis of adenohypophysis|pituitary alpha cell http://purl.obolibrary.org/obo/CL_0000638 GO:1904345 biolink:BiologicalProcess negative regulation of gastric mucosal blood circulation Any process that stops, prevents or reduces the frequency, rate or extent of gastric mucosal blood circulation. hp.json inhibition of gastric mucosal blood circulation|downregulation of gastric mucosal blood circulation|negative regulation of stomach mucosal blood circulation|down-regulation of stomach mucosal blood circulation|down regulation of stomach mucosal blood circulation|down-regulation of gastric mucosal blood circulation|inhibition of stomach mucosal blood circulation|downregulation of stomach mucosal blood circulation|down regulation of gastric mucosal blood circulation http://purl.obolibrary.org/obo/GO_1904345 GO:1904344 biolink:BiologicalProcess regulation of gastric mucosal blood circulation Any process that modulates the frequency, rate or extent of gastric mucosal blood circulation. hp.json regulation of stomach mucosal blood circulation http://purl.obolibrary.org/obo/GO_1904344 GO:0086103 biolink:BiologicalProcess G protein-coupled receptor signaling pathway involved in heart process An G protein-coupled receptor signaling pathway which contributes to a circulatory system process carried out by the heart. hp.json GPCR signaling pathway involved in cardiac process|G-protein coupled receptor signaling pathway involved in heart process|G-protein coupled receptor signalling pathway involved in heart process|GPCR signaling pathway involved in heart process http://purl.obolibrary.org/obo/GO_0086103 GO:0015800 biolink:BiologicalProcess acidic amino acid transport The directed movement of acidic amino acids, amino acids with a pH below 7, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0015800 UBERON:0009526 biolink:AnatomicalEntity maxillary process mesenchyme Mesenchyme that is part of a maxillary prominence. FMA:312691|EMAPA:17361|EHDAA2:0001071 hp.json mesenchyme of maxillary process|mesenchyme of maxillary prominence http://purl.obolibrary.org/obo/UBERON_0009526 emapa_ehdaa2 CL:0000630 biolink:Cell supporting cell A cell whose primary function is to support other cell types. BTO:0002315 hp.json supportive cell http://purl.obolibrary.org/obo/CL_0000630 CHEBI:30751 biolink:ChemicalSubstance formic acid The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects. PMID:22280475|PMID:16222862|PMID:22622393|Reaxys:1209246|PMID:16230297|PMID:7361809|Beilstein:1209246|KEGG:C00058|Patent:CN101481304|PMID:16465784|LIPID_MAPS_instance:LMFA01010040|CAS:64-18-6|Gmelin:1008|PMID:22080171|PMID:22540994|PMID:15811469|MetaCyc:FORMATE|PMID:22304812|Wikipedia:Formic_acid|KNApSAcK:C00001182|DrugBank:DB01942|BPDB:1749|PMID:22483350|PMID:22499553|CAS:64-18-6|PMID:3946945|PMID:12591956|CAS:64-18-6|PMID:18034701|PMID:16120414|PMID:22447125|PDBeChem:FMT|PMID:22385261|PMID:14637377|PMID:16185830|PMID:22606986|HMDB:HMDB0000142|PMID:16445901|PMID:18397576 hp.json hydrogen carboxylic acid|H-COOH|Formic acid|HCO2H|Acide formique|aminic acid|FORMIC ACID|HCOOH|Methanoic acid|Ameisensaeure|bilorin|formylic acid|formic acid|methoic acid http://purl.obolibrary.org/obo/CHEBI_30751 3_STAR NCBITaxon:88770 biolink:OrganismalEntity Panarthropoda GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_88770 CHEBI:17792 biolink:ChemicalSubstance organohalogen compound A compound containing at least one carbon-halogen bond (where X is a halogen atom). MetaCyc:Organohalogen-Compounds|KEGG:C01322 hp.json organohalogen compounds|RX|organic halides|RX|organic halide http://purl.obolibrary.org/obo/CHEBI_17792 3_STAR UBERON:0009521 biolink:AnatomicalEntity anal membrane endodermal component An endoderm that is part of a anal region. EHDAA2:0004020|EMAPA:17177 hp.json http://purl.obolibrary.org/obo/UBERON_0009521 emapa_ehdaa2 GO:0003824 biolink:MolecularActivity catalytic activity Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. Wikipedia:Enzyme hp.json enzyme activity http://purl.obolibrary.org/obo/GO_0003824 goslim_pir|goslim_plant|goslim_flybase_ribbon|goslim_metagenomics|goslim_chembl|goslim_agr|goslim_generic UBERON:0009522 biolink:AnatomicalEntity lateral lingual swelling epithelium An epithelium that is part of a lateral lingual swelling. FMA:313717|EHDAA2:0000913|EMAPA:17190 hp.json http://purl.obolibrary.org/obo/UBERON_0009522 emapa_ehdaa2 CHEBI:17790 biolink:ChemicalSubstance methanol The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group. UM-BBD_compID:c0132|PMID:14760634|PMID:14012711|PMID:11430978|MetaCyc:METOH|PMID:19064074|PMID:19850112|Reaxys:1098229|Beilstein:1098229|PDBeChem:MOH|PMID:16705261|PMID:15906011|CAS:67-56-1|Gmelin:449|PMID:14678513|KEGG:C00132|HMDB:HMDB0001875|PMID:11684179|CAS:67-56-1|PMID:11489599|CAS:67-56-1|Wikipedia:Methanol|PMID:11141607|PMID:15172721|PMID:17451998|PMID:11680737|PMID:20314698|KEGG:D02309|PMID:17733096 hp.json wood alcohol|Methylalkohol|METHANOL|wood spirit|methanol|spirit of wood|methanol|CH3OH|carbinol|Methyl alcohol|wood naphtha|Methanol|MeOH http://purl.obolibrary.org/obo/CHEBI_17790 3_STAR UBERON:0009523 biolink:AnatomicalEntity mesenchyme of handplate Mesenchyme that is part of a handplate. EMAPA:17457|EMAPA:17248|EHDAA2:0000731 hp.json handplate mesenchyme|hand plate mesenchyme http://purl.obolibrary.org/obo/UBERON_0009523 emapa_ehdaa2 UBERON:0010582 biolink:AnatomicalEntity pedal digit 3 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 3 mesenchyme. EHDAA2:0002051|EMAPA:17730 hp.json foot digit 3 phalanx pre-cartilage condensation|pedal digit III phalanx pre-cartilage condensation|hind limb digit 3 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010582 UBERON:0010583 biolink:AnatomicalEntity pedal digit 4 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 4 mesenchyme. EHDAA2:0002056|EMAPA:17732 hp.json hind limb digit 4 phalanx pre-cartilage condensation|foot digit 4 phalanx pre-cartilage condensation|pedal digit IV phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010583 UBERON:0010580 biolink:AnatomicalEntity pedal digit 1 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 1 mesenchyme. EMAPA:17726|EHDAA2:0002041 hp.json foot digit 1 phalanx pre-cartilage condensation|pedal digit I phalanx pre-cartilage condensation|hind limb digit 1 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010580 UBERON:0010581 biolink:AnatomicalEntity pedal digit 2 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 2 mesenchyme. EMAPA:17728|EHDAA2:0002046 hp.json pedal digit II phalanx pre-cartilage condensation|foot digit 2 phalanx pre-cartilage condensation|hind limb digit 2 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010581 UBERON:0010586 biolink:AnatomicalEntity manual digit phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit mesenchyme. VHOG:0000954|EMAPA:32639 hp.json forelimb phalanx pre-cartilage condensation|hand digit phalanx pre-cartilage condensation|fore limb digit phalanx pre-cartilage condensation|hand phalanx pre-cartilage condensation|manus phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010586 CL:0000604 biolink:Cell retinal rod cell One of the two photoreceptor cell types of the vertebrate retina. In rods the photopigment is in stacks of membranous disks separate from the outer cell membrane. Rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision. CALOHA:TS-0870|FMA:67747|BTO:0001024 hp.json http://purl.obolibrary.org/obo/CL_0000604 UBERON:0010584 biolink:AnatomicalEntity pedal digit 5 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 5 mesenchyme. EMAPA:17734|EHDAA2:0002061 hp.json hind limb digit 5 phalanx pre-cartilage condensation|pedal digit V phalanx pre-cartilage condensation|foot digit 5 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010584 UBERON:0010585 biolink:AnatomicalEntity pedal digit phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit mesenchyme. VHOG:0000952|EMAPA:32950 hp.json foot digit phalanx pre-cartilage condensation|pes phalanx pre-cartilage condensation|foot phalanx pre-cartilage condensation|hind limb digit phalanx pre-cartilage condensation|hindlimb phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010585 UBERON:0010579 biolink:AnatomicalEntity manual digit 5 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 5 mesenchyme. EHDAA2:0000540|EMAPA:17723 hp.json fore limb digit 5 phalanx pre-cartilage condensation|manual digit V phalanx pre-cartilage condensation|hand digit 5 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010579 GO:1904364 biolink:NamedThing positive regulation of calcitonin secretion hp.json http://purl.obolibrary.org/obo/GO_1904364 UBERON:0010577 biolink:AnatomicalEntity manual digit 3 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 3 mesenchyme. EMAPA:17719|EHDAA2:0000528 hp.json manual digit III phalanx pre-cartilage condensation|hand digit 3 phalanx pre-cartilage condensation|fore limb digit 3 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010577 GO:1904363 biolink:NamedThing negative regulation of calcitonin secretion hp.json http://purl.obolibrary.org/obo/GO_1904363 UBERON:0010578 biolink:AnatomicalEntity manual digit 4 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 4 mesenchyme. EMAPA:17721|EHDAA2:0000534 hp.json manual digit IV phalanx pre-cartilage condensation|hand digit 4 phalanx pre-cartilage condensation|fore limb digit 4 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010578 GO:1904362 biolink:NamedThing regulation of calcitonin secretion hp.json http://purl.obolibrary.org/obo/GO_1904362 UBERON:0009580 biolink:AnatomicalEntity diencephalon mantle layer VHOG:0000912|EMAPA:16906|EHDAA2:0000397 hp.json mantle layer lateral wall diencephalon|diencephalon lateral wall mantle layer http://purl.obolibrary.org/obo/UBERON_0009580 UBERON:0009581 biolink:AnatomicalEntity midbrain mantle layer VHOG:0000910|EMAPA:16977|EHDAA2:0001172 hp.json mantle layer lateral wall mesencephalon|mantle layer lateral wall midbrain|midbrain lateral wall mantle layer http://purl.obolibrary.org/obo/UBERON_0009581 UBERON:0010571 biolink:AnatomicalEntity manual digit 2 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 2 mesenchyme. EMAPA:18070|EHDAA2:0000520 hp.json metacarpus 2 cartilage element|manual digit II metacarpus cartilage element|hand digit 2 metacarpus cartilage element|finger 2 metacarpus cartilage element|fore limb digit 2 metacarpus cartilage element http://purl.obolibrary.org/obo/UBERON_0010571 UBERON:0010572 biolink:AnatomicalEntity manual digit 3 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 3 mesenchyme. EMAPA:18075|EHDAA2:0000526 hp.json manual digit III metacarpus cartilage element|hand digit 3 metacarpus cartilage element|fore limb digit 3 metacarpus cartilage element|finger 3 metacarpus cartilage element|metacarpus 3 cartilage element http://purl.obolibrary.org/obo/UBERON_0010572 UBERON:0010570 biolink:AnatomicalEntity manual digit 1 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 1 mesenchyme. EHDAA2:0000514|EMAPA:18065 hp.json manual digit I metacarpus cartilage element|metacarpus 1 cartilage element|hand digit 1 metacarpus cartilage element|fore limb digit 1 metacarpus cartilage element|finger 1 metacarpus cartilage element http://purl.obolibrary.org/obo/UBERON_0010570 UBERON:0010575 biolink:AnatomicalEntity manual digit 1 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 1 mesenchyme. EMAPA:17715|EHDAA2:0000516 hp.json hand digit 1 phalanx pre-cartilage condensation|manual digit I phalanx pre-cartilage condensation|fore limb digit 1 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010575 UBERON:0010576 biolink:AnatomicalEntity manual digit 2 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 2 mesenchyme. EMAPA:17717|EHDAA2:0000522 hp.json manual digit II phalanx pre-cartilage condensation|hand digit 2 phalanx pre-cartilage condensation|fore limb digit 2 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010576 UBERON:0010573 biolink:AnatomicalEntity manual digit 4 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 4 mesenchyme. EMAPA:18080|EHDAA2:0000532 hp.json manual digit IV metacarpus cartilage element|finger 4 metacarpus cartilage condensation|hand digit 4 metacarpus cartilage element|fore limb digit 4 metacarpus cartilage element|metacarpus 4 cartilage element http://purl.obolibrary.org/obo/UBERON_0010573 CL:0000617 biolink:Cell GABAergic neuron A neuron that uses GABA as a vesicular neurotransmitter FMA:84788|WBbt:0005190 hp.json GABA-ergic neuron http://purl.obolibrary.org/obo/CL_0000617 UBERON:0010574 biolink:AnatomicalEntity manual digit 5 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 5 mesenchyme. EMAPA:18085|EHDAA2:0000538 hp.json hand digit 5 metacarpus cartilage element|finger 5 metacarpus cartilage condensation|fore limb digit 5 metacarpus cartilage element|metacarpus 5 cartilage element|manual digit V metacarpus cartilage element http://purl.obolibrary.org/obo/UBERON_0010574 GO:1904376 biolink:BiologicalProcess negative regulation of protein localization to cell periphery Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cell periphery. hp.json down-regulation of protein localization to cell periphery|downregulation of protein localization to cell periphery|down regulation of protein localization to cell periphery|inhibition of protein localization to cell periphery http://purl.obolibrary.org/obo/GO_1904376 UBERON:0010568 biolink:AnatomicalEntity manual digit 4 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 4 mesenchyme. EHDAA2:0000533|EMAPA:17720 hp.json metacarpal 4 pre-cartilage condensation|hand digit 4 metacarpus pre-cartilage condensation|fore limb digit 4 metacarpus pre-cartilage condensation|manual digit IV metacarpus pre-cartilage condensation|finger 4 metacarpus pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010568 UBERON:0010569 biolink:AnatomicalEntity manual digit 5 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 5 mesenchyme. EHDAA2:0000539|EMAPA:17722 hp.json hand digit 5 metacarpus pre-cartilage condensation|metacarpal 5 pre-cartilage condensation|finger 5 metacarpus pre-cartilage condensation|fore limb digit 5 metacarpus pre-cartilage condensation|manual digit V metacarpus pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010569 GO:1904375 biolink:BiologicalProcess regulation of protein localization to cell periphery Any process that modulates the frequency, rate or extent of protein localization to cell periphery. hp.json http://purl.obolibrary.org/obo/GO_1904375 UBERON:0010566 biolink:AnatomicalEntity manual digit 2 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 2 mesenchyme. EHDAA2:0000521|EMAPA:17716 hp.json metacarpal 2 pre-cartilage condensation|hand digit 2 metacarpus pre-cartilage condensation|manual digit II metacarpus pre-cartilage condensation|fore limb digit 2 metacarpus pre-cartilage condensation|finger 2 metacarpus pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010566 UBERON:0010567 biolink:AnatomicalEntity manual digit 3 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 3 mesenchyme. EMAPA:17718|EHDAA2:0000527 hp.json metacarpal 3 pre-cartilage condensation|finger 3 metacarpus pre-cartilage condensation|hand digit 3 metacarpus pre-cartilage condensation|manual digit III metacarpus pre-cartilage condensation|fore limb digit 3 metacarpus pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010567 UBERON:0009583 biolink:AnatomicalEntity spinal cord mantle layer VHOG:0000911|EMAPA:17580 hp.json mantle layer lateral wall spinal cord|spinal cord lateral wall mantle layer http://purl.obolibrary.org/obo/UBERON_0009583 UBERON:0009584 biolink:AnatomicalEntity 1st arch mandibular mesenchyme Mesenchyme that is part of a 1st arch mandibular component. EMAPA:16385|EHDAA2:0000034 hp.json mesenchymal region of mandibular component of first pharyngeal arch|mandibular component mesenchyme|mandibular mesenchyme|mesenchymal region of mandibular component of first pharyngeal arch|mesenchyme of mandibular component http://purl.obolibrary.org/obo/UBERON_0009584 UBERON:0009570 biolink:AnatomicalEntity spinal cord sulcus limitans A sulcus limitans of neural tube that is part of a future spinal cord. EMAPA:17584|VHOG:0001548|EHDAA2:0001265 hp.json spinal cord lateral wall sulcus limitans http://purl.obolibrary.org/obo/UBERON_0009570 UBERON:0010560 biolink:AnatomicalEntity pedal digit 4 metatarsal cartilage element A pedal digit metatarsal cartilage element that is part of a pedal digit 4 mesenchyme. EMAPA:18121 hp.json toe 4 metatarsal cartilage element|foot digit 4 metatarsal cartilage element|hind limb digit 4 metatarsal cartilage condensation|pedal digit IV metatarsal cartilage element http://purl.obolibrary.org/obo/UBERON_0010560 UBERON:0010561 biolink:AnatomicalEntity pedal digit 5 metatarsal cartilage element A pedal digit metatarsal cartilage element that is part of a pedal digit 5 mesenchyme. EMAPA:18126 hp.json hind limb digit 5 metatarsal cartilage element|toe 5 metatarsal cartilage element|pedal digit V metatarsal cartilage element|foot digit 5 metatarsal cartilage element http://purl.obolibrary.org/obo/UBERON_0010561 UBERON:0010564 biolink:AnatomicalEntity manual digit 1 mesenchyme Mesenchyme that is part of a developing manual digit 1. EHDAA2:0000513|EMAPA:17431 hp.json manual digit I mesenchyme|hand digit 1 mesenchyme|fore limb digit 1 mesenchyme http://purl.obolibrary.org/obo/UBERON_0010564 UBERON:0010565 biolink:AnatomicalEntity manual digit 1 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 1 mesenchyme. EMAPA:17714|EHDAA2:0000515 hp.json finger 1 metacarpus pre-cartilage condensation|hand digit 1 metacarpus pre-cartilage condensation|manual digit I metacarpus pre-cartilage condensation|fore limb digit 1 metacarpus pre-cartilage condensation|metacarpal 1 pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010565 UBERON:0010562 biolink:AnatomicalEntity pedal digit 1 mesenchyme Mesenchyme that is part of a developing pedal digit 1. EMAPA:17462|EHDAA2:0002039 hp.json foot digit 1 mesenchyme|pedal digit I mesenchyme|hind limb digit 1 mesenchyme http://purl.obolibrary.org/obo/UBERON_0010562 GO:1904377 biolink:BiologicalProcess positive regulation of protein localization to cell periphery Any process that activates or increases the frequency, rate or extent of protein localization to cell periphery. hp.json upregulation of protein localization to cell periphery|up regulation of protein localization to cell periphery|activation of protein localization to cell periphery|up-regulation of protein localization to cell periphery http://purl.obolibrary.org/obo/GO_1904377 UBERON:0010557 biolink:AnatomicalEntity pedal digit 1 metatarsal cartilage element A pedal digit metatarsal cartilage condensation that is part of a pedal digit 1 mesenchyme. EMAPA:18106 hp.json toe 1 metatarsal cartilage condensation|hind limb digit 1 metatarsal cartilage condensation|foot digit 1 metatarsal cartilage element|pedal digit I metatarsal cartilage element http://purl.obolibrary.org/obo/UBERON_0010557 UBERON:0010558 biolink:AnatomicalEntity pedal digit 2 metatarsal cartilage element A pedal digit metatarsal cartilage element that is part of a pedal digit 2 mesenchyme. EMAPA:18111 hp.json hind limb digit 2 metatarsal cartilage condensation|pedal digit II metatarsal cartilage element|toe 2 metatarsal cartilage element|foot digit 2 metatarsal cartilage element http://purl.obolibrary.org/obo/UBERON_0010558 UBERON:0010559 biolink:AnatomicalEntity pedal digit 3 metatarsal cartilage element A pedal digit metatarsal cartilage element that is part of a pedal digit 3 mesenchyme. EMAPA:18116 hp.json hind limb digit 3 metatarsal cartilage condensation|toe 3 metatarsal cartilage element|foot digit 3 metatarsal cartilage element|pedal digit III metatarsal cartilage element http://purl.obolibrary.org/obo/UBERON_0010559 UBERON:0009572 biolink:AnatomicalEntity lumen of central canal of spinal cord A cerebrospinal fluid-filled space that runs longitudinally through the length of the entire spinal cord. The central canal is contiguous with the ventricular system of the brain. The central canal represents the adult remainder of the neural tube. EMAPA:25042|FMA:242845 hp.json cavity of central canal of spinal cord|neural lumen|spinal cord lumen|central canal lumen http://purl.obolibrary.org/obo/UBERON_0009572 CHEBI:17761 biolink:ChemicalSubstance ceramide Ceramides (N-acyl-sphingoid bases) are a major subclass of sphingoid base derivatives with an amide-linked fatty acid. The fatty acids are typically saturated or monounsaturated with chain lengths from 14 to 26 carbon atoms; the presence of a hydroxyl group on carbon 2 is fairly common. Ceramides are generally precursors of more complex sphingolipids. In the illustrated generalised structure, R(1) = OH, OX (where X = acyl, glycosyl, phosphate, phosphonate, etc.), or H. KEGG:C00195|LIPID_MAPS_class:LMSP02|Wikipedia:Ceramide|PMID:7542630 hp.json ceramides|N-acylated sphingoid|a ceramide|Ceramide|Cer http://purl.obolibrary.org/obo/CHEBI_17761 3_STAR UBERON:0009576 biolink:AnatomicalEntity medulla oblongata sulcus limitans A sulcus limitans of neural tube that is part of a future medulla oblongata. EMAPA:17561|EHDAA2:0001100 hp.json http://purl.obolibrary.org/obo/UBERON_0009576 UBERON:0009577 biolink:AnatomicalEntity metencephalon sulcus limitans A sulcus limitans of neural tube that is part of a future metencephalon. EMAPA:17567|EHDAA2:0001161 hp.json http://purl.obolibrary.org/obo/UBERON_0009577 UBERON:0009578 biolink:AnatomicalEntity myelencephalon sulcus limitans A sulcus limitans of neural tube that is part of a future myelencephalon. EHDAA2:0001945 hp.json http://purl.obolibrary.org/obo/UBERON_0009578 UBERON:0010550 biolink:AnatomicalEntity pedal digit 4 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 4 mesenchyme. EHDAA2:0002055|EMAPA:17731 hp.json foot digit 4 metatarsal pre-cartilage condensation|hind limb digit 4 metatarsal pre-cartilage condensation|toe 4 metatarsal pre-cartilage condensation|pedal digit IV metatarsal pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010550 UBERON:0010551 biolink:AnatomicalEntity pedal digit 5 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 5 mesenchyme. EMAPA:17733|EHDAA2:0002060 hp.json foot digit 5 metatarsal pre-cartilage condensation|hind limb digit 5 metatarsal pre-cartilage condensation|pedal digit V metatarsal pre-cartilage condensation|toe 5 metatarsal pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010551 GO:1904398 biolink:BiologicalProcess positive regulation of neuromuscular junction development Any process that activates or increases the frequency, rate or extent of neuromuscular junction development. hp.json activation of neuromuscular junction organization|positive regulation of neuromuscular junction organization|activation of NMJ stability|upregulation of neuromuscular junction organization|up regulation of neuromuscular junction development|activation of neuromuscular junction stability|upregulation of neuromuscular junction stability|up-regulation of NMJ stability|up-regulation of neuromuscular junction development|activation of neuromuscular junction development|up regulation of NMJ stability|positive regulation of neuromuscular junction stability|up-regulation of neuromuscular junction organization|up regulation of neuromuscular junction stability|positive regulation of NMJ stability|up regulation of neuromuscular junction organization|upregulation of neuromuscular junction development|up-regulation of neuromuscular junction stability|upregulation of NMJ stability http://purl.obolibrary.org/obo/GO_1904398 UBERON:0010546 biolink:AnatomicalEntity metapodial skeleton Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. VSAO:0005025 hp.json skeletal parts of metapodium|metapodium|metapodial skeleton|metacarpal/metatarsal skeleton|skeleton of metapodium|metapodium skeleton http://purl.obolibrary.org/obo/UBERON_0010546 UBERON:0009568 biolink:AnatomicalEntity trunk region of vertebral column Subdivision of vertebral column that corresponds to the trunk of the body, containing the trunk/presacral vertebrae. In organisms that have a thoracic and lumbar distinction, this corresponds to the sum of both of these regions. NCIT:C92597|AAO:0000612|FMA:72066 hp.json trunk skeleton|trunk vertebral column|thoracolumbar vertebral column|trunk spine|trunk region|thoracolumbar column|thoracolumbar region|thoracolumbar region of vertebral column|thoracolumbar vertebrae set|trunk vertebrae series|presacral region http://purl.obolibrary.org/obo/UBERON_0009568 pheno_slim GO:1904397 biolink:BiologicalProcess negative regulation of neuromuscular junction development Any process that stops, prevents or reduces the frequency, rate or extent of neuromuscular junction development. hp.json down regulation of NMJ stability|down regulation of neuromuscular junction stability|negative regulation of neuromuscular junction organization|down-regulation of neuromuscular junction organization|down-regulation of neuromuscular junction stability|negative regulation of neuromuscular junction stability|downregulation of NMJ stability|downregulation of neuromuscular junction development|down regulation of neuromuscular junction organization|inhibition of neuromuscular junction stability|inhibition of neuromuscular junction organization|inhibition of NMJ stability|down regulation of neuromuscular junction development|downregulation of neuromuscular junction organization|inhibition of neuromuscular junction development|downregulation of neuromuscular junction stability|down-regulation of neuromuscular junction development|down-regulation of NMJ stability|negative regulation of NMJ stability http://purl.obolibrary.org/obo/GO_1904397 UBERON:0009569 biolink:AnatomicalEntity subdivision of trunk FMA:25054|SCTID:22943007 hp.json region of trunk|trunk subdivision http://purl.obolibrary.org/obo/UBERON_0009569 non_informative UBERON:0010547 biolink:AnatomicalEntity pedal digit 1 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 1 mesenchyme. EMAPA:17725|EHDAA2:0002040 hp.json pedal digit I metatarsal pre-cartilage condensation|toe 1 metatarsal pre-cartilage condensation|hind limb digit 1 metatarsal pre-cartilage condensation|foot digit 1 metatarsal pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010547 GO:1904396 biolink:BiologicalProcess regulation of neuromuscular junction development Any process that modulates the frequency, rate or extent of neuromuscular junction development. hp.json regulation of NMJ stability|regulation of neuromuscular junction organization|regulation of neuromuscular junction stability http://purl.obolibrary.org/obo/GO_1904396 UBERON:0010544 biolink:AnatomicalEntity metacarpus skeleton The metacarpus is the intermediate part of the manus skeleton that is located between the phalanges (bones of the fingers) distally and the carpus which forms the connection to the forearm. The metacarpus consists of metacarpal bones. The metacarpals form a transverse arch to which the rigid row of distal carpal bones are fixed. The peripheral metacarpals (those of the thumb and little finger) form the sides of the cup of the palmar gutter and as they are brought together they deepen this concavity. The index metacarpal is the most firmly fixed, while the thumb metacarpal articulates with the trapezium and acts independently from the others. The middle metacarpals are tightly united to the carpus by intrinsic interlocking bone elements at their bases. The ring metacarpal forms a transitional element of the semi-independent last metacarpal. [WP,unvetted]. FMA:71336|XAO:0003208|EMAPA:36158|AAO:0000946|VSAO:0005026|MESH:D050279 hp.json fore metapodial skeleton|metacarpals set|set of metacarpal bones|ossa metacarpi [I-V]|set of metacarpals [I-V]|metacarpalia|anterior metapodium|skeleton of metacarpus|ossa metacarpalia [I-V]|metacarpals [I-V]|set of metacarpals|metacarpal skeleton|anterior metapodial skeleton|fore metapodium|metacarpal bones http://purl.obolibrary.org/obo/UBERON_0010544 UBERON:0010545 biolink:AnatomicalEntity metatarsus skeleton Limb segment that consists of the long bones of the pes. The metatarsals are analogous to the metacarpal bones of the manus. XAO:0003212|OpenCyc:Mx4rva_rBJwpEbGdrcN5Y29ycA|AAO:0000221|FMA:71340|MESH:D008684|VSAO:0005027 hp.json ossa metatarsi[I-V]|metatarsal skeleton|posterior metapodium|set of metatarsals [I-V]|ossa metatarsalia [I-V]|metatarsal bones set|ossa metatarsalia|posterior metapodial skeleton|skeleton of metatarsus|metatarsals [I-V]|set of metatarsal bones|metatarsalia http://purl.obolibrary.org/obo/UBERON_0010545 CHEBI:17759 biolink:ChemicalSubstance cholesta-5,7-dien-3beta-ol Beilstein:2224615|LIPID_MAPS_instance:LMST01010069|KEGG:C01164|KNApSAcK:C00023747|CAS:434-16-2|CAS:434-16-2|Gmelin:893079|CAS:434-16-2 hp.json 7-Dehydrocholesterol|cholesta-5,7-dien-3beta-ol|Cholesta-5,7-dien-3beta-ol|7-dehydrocholesterol|5,7-cholestadien-3-beta-ol|5,7-cholestadien-3beta-ol|Provitamin D3|(3beta)-cholesta-5,7-dien-3-ol http://purl.obolibrary.org/obo/CHEBI_17759 3_STAR CHEBI:17754 biolink:ChemicalSubstance glycerol A triol with a structure of propane substituted at positions 1, 2 and 3 by hydroxy groups. KNApSAcK:C00001163|PDBeChem:GOL|PMID:558160|PMID:16664750|Reaxys:635685|PMID:16901854|PMID:19548674|PMID:17439666|PMID:15026783|PMID:16349488|CAS:56-81-5|PMID:24835191|Wikipedia:Glycerol|PMID:23562176|PMID:16319039|PMID:12689633|MetaCyc:GLYCEROL|PMID:15786693|PMID:11958517|PMID:11994365|PMID:11302662|PMID:17979222|PMID:25108762|CAS:56-81-5|PMID:14563847|Gmelin:26279|Drug_Central:1316|CAS:56-81-5|PMID:16475911|PMID:19795216|PMID:16244855|PMID:16258193|FooDB:FDB000756|PMID:7031247|PMID:19231894|PMID:24643482|PMID:6299616|PMID:16651733|UM-BBD_compID:c0066|PMID:15342117|PMID:15983192|LINCS:LSM-37180|HMDB:HMDB0000131|PMID:22705534|PMID:7392035|PMID:12672239|PMID:19460032|PDB:2AJS|PMID:12713573|PPDB:1317|KEGG:C00116|YMDB:YMDB00283|PMID:17336832|KEGG:D00028|PMID:14559393|PMID:23747440|PDB:2D03|PMID:12687625|DrugBank:DB04077|PMID:19956799|Beilstein:635685|Chemspider:733|PMID:19184438|ECMDB:ECMDB00131 hp.json 1,2,3-Propanetriol|glycyl alcohol|Glyceritol|Glyzerin|Glycerin|Propanetriol|1,2,3-Trihydroxypropane|Gro|Glycerol|glycerine|Trihydroxypropane|glycerol|propane-1,2,3-triol|GLYCEROL|glycerol|glycerol|Oelsuess|glycerolum http://purl.obolibrary.org/obo/CHEBI_17754 3_STAR UBERON:0010548 biolink:AnatomicalEntity pedal digit 2 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 2 mesenchyme. EHDAA2:0002045|EMAPA:17727 hp.json hind limb digit 2 metatarsal pre-cartilage condensation|foot digit 2 metatarsal pre-cartilage condensation|toe 2 metatarsal pre-cartilage condensation|pedal digit II metatarsal pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010548 CHEBI:17755 biolink:ChemicalSubstance cystathionine A modified amino acid generated by enzymic means from homocysteine and serine. PMID:12907234|Reaxys:2416815|PMID:22212096|PMID:15033753|PMID:22264337|CAS:535-34-2|KEGG:C00542|CAS:535-34-2 hp.json S-(2-amino-2-carboxyethyl)homocysteine|DL-Cystathionine|Cystathionine|2-amino-4-[(2-amino-2-carboxyethyl)sulfanyl]butanoic acid|cystathione http://purl.obolibrary.org/obo/CHEBI_17755 3_STAR UBERON:0010549 biolink:AnatomicalEntity pedal digit 3 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 3 mesenchyme. EHDAA2:0002050|EMAPA:17729 hp.json toe 3 metatarsal pre-cartilage condensation|pedal digit III metatarsal pre-cartilage condensation|foot digit 3 metatarsal pre-cartilage condensation|hind limb digit 3 metatarsal pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0010549 UBERON:0009564 biolink:AnatomicalEntity distal limb integumentary appendage A nail, hoof or claw. MESH:D006724 hp.json keratin plate|keratin sheath|hoof, claw or nail|unguis|hoof or claw http://purl.obolibrary.org/obo/UBERON_0009564 UBERON:0009565 biolink:AnatomicalEntity nail of manual digit A nail that is part of a manual digit. FMA:54327|NCIT:C32609|EMAPA:35349|UMLS:C0222001 hp.json nail plate of finger|nail of finger|manual claw|claw of hand|forelimb digit claw|fingernail|finger nail|claw of manus http://purl.obolibrary.org/obo/UBERON_0009565 pheno_slim UBERON:0009566 biolink:AnatomicalEntity intestinal submucosa A submucosa that is part of a intestine. FMA:15696 hp.json submucosa of intestine http://purl.obolibrary.org/obo/UBERON_0009566 UBERON:0009567 biolink:AnatomicalEntity nail of pedal digit A nail that is part of a pedal digit. EMAPA:36457|UMLS:C0222007|XAO:0003103|FMA:54328|NCIT:C33790 hp.json toe nail|nail of toe|nail of pes|hindlimb digit claw|claw of pes|claw of foot|pedal claw|nail plate of toe|hindlimb claw|toenail|claw of toe http://purl.obolibrary.org/obo/UBERON_0009567 pheno_slim CL:0009063 biolink:Cell enteroendocrine cell of anorectum An enteroendocrine cell that is located in the anorectum. hp.json anorectum enteroendocrine cell http://purl.obolibrary.org/obo/CL_0009063 location_grouping CHEBI:27081 biolink:ChemicalSubstance transition element atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. hp.json transition element|Uebergangsmetalle|metaux de transition|transition metal|metal de transicion|Uebergangselement|metal de transition|metales de transicion|transition metals|transition elements|transition element http://purl.obolibrary.org/obo/CHEBI_27081 3_STAR GO:0015774 biolink:BiologicalProcess polysaccharide transport The directed movement of polysaccharides into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A polysaccharide is a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. hp.json http://purl.obolibrary.org/obo/GO_0015774 CHEBI:27092 biolink:ChemicalSubstance tricarboxylic acid trianion hp.json tricarboxylate|tricarboxylates|tricarboxylic acid trianions http://purl.obolibrary.org/obo/CHEBI_27092 3_STAR CHEBI:27093 biolink:ChemicalSubstance tricarboxylic acid An oxoacid containing three carboxy groups. Wikipedia:Tricarboxylic_acid hp.json Tricarbonsaeure|tricarboxylic acids|Trikarbonsaeure http://purl.obolibrary.org/obo/CHEBI_27093 3_STAR CHEBI:78675 biolink:ChemicalSubstance fundamental metabolite Any metabolite produced by all living cells. hp.json fundamental metabolites|essential metabolite|essential metabolites http://purl.obolibrary.org/obo/CHEBI_78675 3_STAR CL:0009066 biolink:Cell stratified squamous epithelial cell of anal canal A stratified squamous epithelial cell that is part of the anal canal. hp.json anal canal stratified squamous epithelial cell http://purl.obolibrary.org/obo/CL_0009066 location_grouping CL:0009040 biolink:Cell stromal cell of lamina propria of colon A stromal cell found in the lamina propria of the colon. hp.json stromal cell of colon lamina propria http://purl.obolibrary.org/obo/CL_0009040 location_grouping CL:0009042 biolink:Cell enteroendocrine cell of colon An enteroendocrine cell that is located in the colon. hp.json colon enteroendocrine cell http://purl.obolibrary.org/obo/CL_0009042 location_grouping CHEBI:64049 biolink:ChemicalSubstance food acidity regulator A food additive that is used to change or otherwise control the acidity or alkalinity of foods. They may be acids, bases, neutralising agents or buffering agents. Wikipedia:Acidity_regulator hp.json pH control agent|pH control agents|food acidity regulators|acidity regulator|acidity regulators http://purl.obolibrary.org/obo/CHEBI_64049 3_STAR CHEBI:64047 biolink:ChemicalSubstance food additive Any substance which is added to food to preserve or enhance its flavour and/or appearance. Wikipedia:Food_additive hp.json food additives http://purl.obolibrary.org/obo/CHEBI_64047 3_STAR CL:0009038 biolink:Cell colon macrophage A macrophage that is located in the colon. hp.json macrophage of colon http://purl.obolibrary.org/obo/CL_0009038 location_grouping CL:0009051 biolink:Cell T cell of anorectum A T cell that is located in the anorectum. hp.json http://purl.obolibrary.org/obo/CL_0009051 location_grouping CL:0009052 biolink:Cell smooth muscle cell of anorectum A smooth muscle cell that is located in the anorectum. hp.json anorectum smooth muscle cell http://purl.obolibrary.org/obo/CL_0009052 location_grouping CL:0009053 biolink:Cell stromal cell of anorectum lamina propria A stromal cell found in the lamina propria of the anorectum. hp.json http://purl.obolibrary.org/obo/CL_0009053 location_grouping CL:0010021 biolink:Cell cardiac myoblast hp.json http://purl.obolibrary.org/obo/CL_0010021 CL:0010022 biolink:Cell cardiac neuron hp.json http://purl.obolibrary.org/obo/CL_0010022 CL:0010020 biolink:Cell cardiac glial cell hp.json http://purl.obolibrary.org/obo/CL_0010020 CL:0009048 biolink:Cell anorectum macrophage A macrophage that is located in the anorectum. hp.json macrophage of anorectum http://purl.obolibrary.org/obo/CL_0009048 location_grouping CL:0010012 biolink:Cell cerebral cortex neuron A CNS neuron of the cerebral cortex. BTO:0004102|FMA:84104 hp.json neuron of cerebral cortex|cortical neuron http://purl.obolibrary.org/obo/CL_0010012 CL:0000680 biolink:Cell muscle precursor cell A non-terminally differentiated cell that is capable of developing into a muscle cell. hp.json http://purl.obolibrary.org/obo/CL_0000680 CL:0000681 biolink:Cell radial glial cell A cell present in the developing CNS. Functions as both a precursor cell and as a scaffold to support neuronal migration. hp.json forebrain radial glial cell http://purl.obolibrary.org/obo/CL_0000681 UBERON:0009636 biolink:AnatomicalEntity prechordal cartilage Chondrocranium chondrification center that that forms anterior body of sphenoid, containing the sella turcica and posterior body of sphenoid. hp.json http://purl.obolibrary.org/obo/UBERON_0009636 UBERON:0009638 biolink:AnatomicalEntity orbitosphenoid ossification center hp.json orbitosphenoid center http://purl.obolibrary.org/obo/UBERON_0009638 CL:0009018 biolink:Cell lymphocyte of large intestine lamina propria A lymphocyte that resides in the lamina propria of the large intestine. hp.json lamina propria lymphocyte of large intestine http://purl.obolibrary.org/obo/CL_0009018 location_grouping CHEBI:76042 biolink:ChemicalSubstance aromatic amino-acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any aromatic amino-acid. MetaCyc:Aromatic-Amino-Acids hp.json aromatic amino-acid zwitterions|an aromatic amino-acid http://purl.obolibrary.org/obo/CHEBI_76042 3_STAR UBERON:0009639 biolink:AnatomicalEntity body of sphenoid The body of the sphenoid bone, more or less cubical in shape, is hollowed out in its interior to form two large cavities, the sphenoidal air sinuses, which are separated from each other by a septum. FMA:52867 hp.json body of sphenoidal bone|corpus (os sphenoidale)|corpus ossis sphenoidalis|Entire body of sphenoid bone|sphenoid body|central body of sphenoid http://purl.obolibrary.org/obo/UBERON_0009639 CL:0010017 biolink:Cell zygote A zygote in a plant or an animal. hp.json http://purl.obolibrary.org/obo/CL_0010017 CHEBI:39015 biolink:ChemicalSubstance apolipoprotein Protein component on the surface of lipoprotein. hp.json apolipoproteins http://purl.obolibrary.org/obo/CHEBI_39015 3_STAR GO:0001101 biolink:BiologicalProcess response to acid chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by the chemical structure of the anion portion of a dissociated acid (rather than the acid acting as a proton donor). The acid chemical may be in gaseous, liquid or solid form. hp.json response to acid anion|response to acid|response to oxoanion http://purl.obolibrary.org/obo/GO_0001101 gocheck_do_not_manually_annotate CL:0010003 biolink:Cell epithelial cell of alveolus of lung An epithelial cell that is part_of a alveolus of lung. hp.json alveolus of lung epithelial cell http://purl.obolibrary.org/obo/CL_0010003 GO:1990280 biolink:BiologicalProcess RNA localization to chromatin A process in which RNA is transported to and maintained in a part of a chromosome that is organized into chromatin. hp.json RNA localisation to chromatin http://purl.obolibrary.org/obo/GO_1990280 CL:0010004 biolink:Cell mononuclear cell of bone marrow A mononuclear cell that is part_of a bone marrow. hp.json bone marrow mononuclear cell http://purl.obolibrary.org/obo/CL_0010004 CL:0010001 biolink:Cell stromal cell of bone marrow A stromal cell that is part_of a bone marrow. hp.json bone marrow stromal cell http://purl.obolibrary.org/obo/CL_0010001 GO:0015749 biolink:BiologicalProcess monosaccharide transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. hp.json monosaccharide transport http://purl.obolibrary.org/obo/GO_0015749 UBERON:0009624 biolink:AnatomicalEntity lumbar nerve The lumbar nerves are the five spinal nerves emerging from the lumbar vertebrae. They are divided into posterior and anterior divisions. FMA:5861|NCIT:C33015|UMLS:C0228897 hp.json lumbar spinal nerve|nervus lumbalis|nervi lumbales http://purl.obolibrary.org/obo/UBERON_0009624 UBERON:0009625 biolink:AnatomicalEntity sacral nerve The five sacral nerves emerge from the sacrum. Although the vertebral components of the sacrum are fused into a single bone, the sacral vertebrae are still used to number the sacral nerves. Posteriorly, they emerge from the posterior sacral foramina, and form the posterior branches of sacral nerves. Anteriorly, they emerge from the anterior sacral foramina, and contribute to the sacral plexus (S1-S4) and coccygeal plexus. FMA:5862|UMLS:C0228922|NCIT:C33505 hp.json nervi sacrales|nervus sacralis|sacral spinal nerve http://purl.obolibrary.org/obo/UBERON_0009625 CL:0010009 biolink:Cell camera-type eye photoreceptor cell hp.json camera type eye photoreceptor cell http://purl.obolibrary.org/obo/CL_0010009 CL:0010007 biolink:Cell His-Purkinje system cell hp.json http://purl.obolibrary.org/obo/CL_0010007 CL:0000696 biolink:Cell PP cell A cell that stores and secretes pancreatic polypeptide hormone. FMA:62938|FMA:83409 hp.json type F enteroendocrine cell http://purl.obolibrary.org/obo/CL_0000696 CL:0010008 biolink:Cell cardiac endothelial cell hp.json http://purl.obolibrary.org/obo/CL_0010008 CL:0010006 biolink:Cell cardiac blood vessel endothelial cell hp.json http://purl.obolibrary.org/obo/CL_0010006 CHEBI:30697 biolink:ChemicalSubstance beta-D-glucosyl group A D-glucosyl group obtained by removing the hydroxy group from the hemiacetal function of beta-D-glucose and, by extension, of a lower oligosaccharide having beta-D-glucose at the reducing end. The unsubstituted parent of the class of beta-D-glucosyl groups. PMID:28979944 hp.json beta-D-glucosyl group|beta-D-glucosyl|beta-glucopyranosyl group|beta-D-glucopyranosyl|beta-glucosyl|beta-D-glucopyranosyl group http://purl.obolibrary.org/obo/CHEBI_30697 3_STAR CL:0009025 biolink:Cell mesothelial cell of colon A mesothelial cell that is part of the colon. hp.json mesothelial cell of large intestine http://purl.obolibrary.org/obo/CL_0009025 location_grouping CHEBI:39022 biolink:ChemicalSubstance inclusion compound A complex in which one component (the host) forms a cavity or, in the case of a crystal, a crystal lattice containing spaces in the shape of long tunnels or channels in which molecular entities of a second chemical species (the guest) are located. There is no covalent bonding between guest and host, the attraction being generally due to van der Waals forces. hp.json compuestos de inclusion|inclusion compounds|inclusion compound|compuesto de inclusion|inclusion complex|compose d'inclusion http://purl.obolibrary.org/obo/CHEBI_39022 3_STAR CL:0009021 biolink:Cell stromal cell of lamina propria of large intestine A stromal cell found in the lamina propria of the large intestine. hp.json http://purl.obolibrary.org/obo/CL_0009021 location_grouping CHEBI:39026 biolink:ChemicalSubstance low-density lipoprotein A class of lipoproteins of small size (18-25 nm) and low density (1.019-1.063 g/ml) particles with a core composed mainly of cholesterol esters and smaller amounts of triglycerides. The surface monolayer consists mostly of phospholipids, a single copy of apolipoprotein B-100, and free cholesterol molecules. The main function of LDL is to transport cholesterol and cholesterol esters from the liver. Excessive levels are associated with cardiovascular disease. PMID:19349632|PMID:28432662|PMID:15583011|PMID:28847800|PMID:28792690|PMID:15913955|PMID:28859941|PMID:28401639|Wikipedia:Low-density_lipoprotein|PMID:28827781|PMID:28870972|PMID:11082530 hp.json low-density lipoproteins|beta-lipoproteins|LDL http://purl.obolibrary.org/obo/CHEBI_39026 3_STAR UBERON:0009621 biolink:AnatomicalEntity tail somite A somite that is part of a tail. EMAPA:16860|XAO:0003143|AAO:0010383 hp.json http://purl.obolibrary.org/obo/UBERON_0009621 CHEBI:39024 biolink:ChemicalSubstance clathrate compound Inclusion compound in which the guest molecule is in a cage formed by the host molecule or by a lattice of host molecules. hp.json clathrates|Clathrat|clatrato|Clathratverbindung|clathrate compounds|compuesto de clatrato|Klathrat|cage compound|Klathratverbindung|clatratos|clathrate http://purl.obolibrary.org/obo/CHEBI_39024 3_STAR CL:0000667 biolink:Cell collagen secreting cell An extracellular matrix secreting cell that secretes collagen. hp.json http://purl.obolibrary.org/obo/CL_0000667 CL:0000669 biolink:Cell pericyte cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. BTO:0002441|FMA:63174 hp.json pericyte of Rouget|cell of Rouget|pericyte|ARC|adventitial reticular cell|adventitial cell http://purl.obolibrary.org/obo/CL_0000669 GO:0015718 biolink:BiologicalProcess monocarboxylic acid transport The directed movement of monocarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0015718 GO:0015711 biolink:BiologicalProcess organic anion transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. hp.json http://purl.obolibrary.org/obo/GO_0015711 UBERON:0009614 biolink:AnatomicalEntity hindbrain neural plate A neural plate that develops_from a presumptive hindbrain. ZFA:0007022|TAO:0007022 hp.json http://purl.obolibrary.org/obo/UBERON_0009614 UBERON:0009615 biolink:AnatomicalEntity midbrain hindbrain boundary neural plate TAO:0007044|ZFA:0007044 hp.json MHB neural plate|midbrain-hindbrain boundary neural plate|MHB neural plate http://purl.obolibrary.org/obo/UBERON_0009615 UBERON:0009616 biolink:AnatomicalEntity presumptive midbrain A presumptive structure that has the potential to develop into a midbrain. EHDAA2:0000615|ZFA:0000148|TAO:0000148|EMAPA:16140|BAMS:MES|Wikipedia:Mesencephalon|EFO:0003432 hp.json early midbrain|future midbrain|early midbrain|future midbrain|presumptive mesencephalon|mesencephalon http://purl.obolibrary.org/obo/UBERON_0009616 efo_slim UBERON:0009617 biolink:AnatomicalEntity head paraxial mesoderm Bilateral mesenchymal mesoderm parallel and immediately adjacent to the neural tube/notochord; it generates a subset of extra-ocular, and other head, muscles. EHDAA2:0000736|EHDAA:364|EMAPA:16171 hp.json head paraxial mesenchyme|head paraxial mesenchyme|cranial paraxial mesoderm|cephalic paraxial mesenchyme|cranial paraxial mesenchyme|cephalic paraxial mesoderm|somitomeric mesoderm|somitomere|cranial paraxial mesenchyme|cephalic paraxial mesoderm|cranial paraxial mesoderm|cephalic paraxial mesenchyme http://purl.obolibrary.org/obo/UBERON_0009617 UBERON:0009618 biolink:AnatomicalEntity trunk paraxial mesoderm EHDAA2:0002094 hp.json trunk and cervical paraxial mesenchyme|trunk paraxial mesenchyme|trunk paraxial mesenchyme http://purl.obolibrary.org/obo/UBERON_0009618 CHEBI:30661 biolink:ChemicalSubstance thyronine A tyrosine derivative where the phenolic hydrogen of tyrosine is substituted by 4-hydroxyphenyl. CAS:1034-10-2|Reaxys:2947040|Beilstein:2947040|PMID:15643926|Gmelin:419747 hp.json thyronine|2-amino-3-[4-(4-hydroxyphenoxy)phenyl]propanoic acid|O-(4-hydroxyphenyl)-DL-tyrosine http://purl.obolibrary.org/obo/CHEBI_30661 3_STAR CHEBI:30660 biolink:ChemicalSubstance thyroxine An iodothyronine compound having iodo substituents at the 3-, 3'-, 5- and 5'-positions. Beilstein:2228514|PMID:15206581|PMID:9824273|PMID:24375501|CAS:300-30-1 hp.json Thx|O-(4-Hydroxy-3,5-diiodophenyl)-3,5-diiodo-DL-tyrosine|thyroxine|DL-Thyroxine|2-amino-3-[4-(4-hydroxy-3,5-diiodophenoxy)-3,5-diiodophenyl]propanoic acid http://purl.obolibrary.org/obo/CHEBI_30660 3_STAR UBERON:0009610 biolink:AnatomicalEntity forebrain neural plate A neural plate that develops_from a future forebrain. ZFA:0007018|TAO:0007018 hp.json http://purl.obolibrary.org/obo/UBERON_0009610 UBERON:0009611 biolink:AnatomicalEntity midbrain neural plate A neural plate that develops_from a presumptive midbrain. ZFA:0007019|TAO:0007019 hp.json http://purl.obolibrary.org/obo/UBERON_0009611 CHEBI:27027 biolink:ChemicalSubstance micronutrient Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Wikipedia:Micronutrient hp.json micronutrients|trace elements http://purl.obolibrary.org/obo/CHEBI_27027 3_STAR GO:1904306 biolink:BiologicalProcess positive regulation of gastro-intestinal system smooth muscle contraction Any process that activates or increases the frequency, rate or extent of gastro-intestinal system smooth muscle contraction. hp.json activation of gastro-intestinal system smooth muscle contraction|upregulation of gastro-intestinal system smooth muscle contraction|up regulation of gastro-intestinal system smooth muscle contraction|up-regulation of gastro-intestinal system smooth muscle contraction http://purl.obolibrary.org/obo/GO_1904306 CHEBI:27024 biolink:ChemicalSubstance toluenes Any member of the class of benzenes that is a substituted benzene in which the substituents include one (and only one) methyl group. hp.json http://purl.obolibrary.org/obo/CHEBI_27024 3_STAR GO:1904305 biolink:BiologicalProcess negative regulation of gastro-intestinal system smooth muscle contraction Any process that stops, prevents or reduces the frequency, rate or extent of gastro-intestinal system smooth muscle contraction. hp.json down regulation of gastro-intestinal system smooth muscle contraction|inhibition of gastro-intestinal system smooth muscle contraction|down-regulation of gastro-intestinal system smooth muscle contraction|downregulation of gastro-intestinal system smooth muscle contraction http://purl.obolibrary.org/obo/GO_1904305 CL:0000679 biolink:Cell glutamatergic neuron WBbt:0006829 hp.json http://purl.obolibrary.org/obo/CL_0000679 CHEBI:27026 biolink:ChemicalSubstance toxin Poisonous substance produced by a biological organism such as a microbe, animal or plant. Wikipedia:Toxin hp.json toxin|toxins http://purl.obolibrary.org/obo/CHEBI_27026 3_STAR GO:1904304 biolink:BiologicalProcess regulation of gastro-intestinal system smooth muscle contraction Any process that modulates the frequency, rate or extent of gastro-intestinal system smooth muscle contraction. hp.json http://purl.obolibrary.org/obo/GO_1904304 UBERON:0009602 biolink:AnatomicalEntity left lung associated mesenchyme Mesenchyme that is part of a developing left lung. EHDAA2:0000944|EMAPA:16730|EMAPA:17654 hp.json left lung mesenchyme http://purl.obolibrary.org/obo/UBERON_0009602 CL:0000670 biolink:Cell primordial germ cell A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells. FMA:70567 hp.json gonocyte|primitive germ cell http://purl.obolibrary.org/obo/CL_0000670 UBERON:0009603 biolink:AnatomicalEntity right lung associated mesenchyme Mesenchyme that is part of a developing right lung. EMAPA:17662|EHDAA2:0001739 hp.json right lung mesenchyme http://purl.obolibrary.org/obo/UBERON_0009603 CL:0000675 biolink:Cell female gamete A mature sexual reproductive cell of the female germline. hp.json http://purl.obolibrary.org/obo/CL_0000675 GO:0015721 biolink:NamedThing bile acid and bile salt transport hp.json http://purl.obolibrary.org/obo/GO_0015721 CL:0009004 biolink:Cell retinal cell Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. PMID:10702418 hp.json http://purl.obolibrary.org/obo/CL_0009004 CL:0009000 biolink:Cell sensory neuron of spinal nerve A sensory neuron of the spinal nerve that senses body position and sends information about how much the muscle is stretched to the spinal cord. hp.json spinal sensory neuron http://purl.obolibrary.org/obo/CL_0009000 CL:0009001 biolink:Cell compound eye retinal cell Any cell in the compound eye, a light sensing organ composed of ommatidia. GOC:pr|PMID:12021768 hp.json http://purl.obolibrary.org/obo/CL_0009001 HP:0012462 biolink:PhenotypicFeature Chin myoclonus Involuntary and irregular twitches of the chin. UMLS:C1860972|MSH:C537682 hp.json Geniospasm|Chin spasms http://purl.obolibrary.org/obo/HP_0012462 GO:1990234 biolink:CellularComponent transferase complex A protein complex capable of catalyzing the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). hp.json http://purl.obolibrary.org/obo/GO_1990234 HP:0012463 biolink:PhenotypicFeature Elevated transferrin saturation An above normal level of saturation of serum transferrin with iron. UMLS:C4022892 hp.json http://purl.obolibrary.org/obo/HP_0012463 HP:0012464 biolink:PhenotypicFeature Decreased transferrin saturation A below normal level of saturation of serum transferrin with iron. UMLS:C0919785 hp.json http://purl.obolibrary.org/obo/HP_0012464 HP:0012465 biolink:PhenotypicFeature Elevated hepatic iron concentration An increased level of iron in liver tissues. UMLS:C4022891 hp.json Increased iron concentration in liver|Increased liver iron level http://purl.obolibrary.org/obo/HP_0012465 HP:0012466 biolink:PhenotypicFeature Chronic respiratory acidosis Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L). UMLS:C0268048|SNOMEDCT_US:8764008 hp.json http://purl.obolibrary.org/obo/HP_0012466 HP:0012467 biolink:PhenotypicFeature Acute respiratory acidosis Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35). SNOMEDCT_US:70644008|UMLS:C0268047 hp.json http://purl.obolibrary.org/obo/HP_0012467 HP:0012468 biolink:PhenotypicFeature Chronic acidosis Longstanding abnormal acid accumulation or depletion of base. UMLS:C1735903 hp.json http://purl.obolibrary.org/obo/HP_0012468 HP:0012469 biolink:PhenotypicFeature Infantile spasms Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). UMLS:C3887898 hp.json http://purl.obolibrary.org/obo/HP_0012469 HP:0012460 biolink:PhenotypicFeature Dysmorphic inferior cerebellar vermis A structural anomaly of the inferior portion of the vermis of cerebellum. UMLS:C4022893 hp.json http://purl.obolibrary.org/obo/HP_0012460 HP:0012461 biolink:PhenotypicFeature Bacteriuria The presence of bacteria in the urine. UMLS:C0004659|SNOMEDCT_US:61373006|MSH:D001437 hp.json Bacteria in urine|High urine bacteria http://purl.obolibrary.org/obo/HP_0012461 HP:0000473 biolink:PhenotypicFeature Torticollis Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. UMLS:C0152116|UMLS:C0949445|SNOMEDCT_US:70070008|MSH:D014103|UMLS:C0040485|SNOMEDCT_US:270476009|SNOMEDCT_US:74333002 hp.json Cervical dystonia|Spasmodic torticollis|Wry neck|Loxia http://purl.obolibrary.org/obo/HP_0000473 HP:0000472 biolink:PhenotypicFeature Long neck Increased inferior-superior length of the neck. UMLS:C1839816 hp.json Long neck|Increased cervical length|Elongated neck|Increased length of neck|Cervical elongation http://purl.obolibrary.org/obo/HP_0000472 hposlim_core HP:0000475 biolink:PhenotypicFeature Broad neck Increased side-to-side width of the neck. UMLS:C1853638 hp.json Increased width of neck|Thick neck|Broad neck|Wide neck http://purl.obolibrary.org/obo/HP_0000475 hposlim_core BFO:0000050 biolink:NamedThing part of a core relation that holds between a part and its whole BFO:0000050 hp.json http://purl.obolibrary.org/obo/BFO_0000050 http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_gp2term|http://purl.obolibrary.org/obo/valid_for_go_ontology HP:0000474 biolink:PhenotypicFeature Thickened nuchal skin fold A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. UMLS:C1836940 hp.json Increased nuchal fold thickness|Increased nuchal fold|Excess nuchal skin|Thickened skin over the neck|Thickened skin folds of neck|Thick nuchal fold|Thickened nuchal skin http://purl.obolibrary.org/obo/HP_0000474 hposlim_core HP:0000476 biolink:PhenotypicFeature Cystic hygroma A cystic lymphatic lesion of the neck. MSH:D018191|SNOMEDCT_US:423984004|SNOMEDCT_US:40225001|SNOMEDCT_US:399882002|NCIT:C8965|UMLS:C0206620 hp.json Cystic hygroma of the neck http://purl.obolibrary.org/obo/HP_0000476 HP:0000479 biolink:PhenotypicFeature Abnormal retinal morphology A structural abnormality of the retina. UMLS:C0035309|SNOMEDCT_US:29555009|MSH:D012164|UMLS:C0035300 hp.json Abnormal retina|Retina issue|Retinal disease|Abnormality of the retina|Anomaly of the retina http://purl.obolibrary.org/obo/HP_0000479 hposlim_core HP:0000478 biolink:PhenotypicFeature Abnormality of the eye Any abnormality of the eye, including location, spacing, and intraocular abnormalities. SNOMEDCT_US:371405004|UMLS:C0015393|SNOMEDCT_US:371409005|MSH:D005128|SNOMEDCT_US:19416009|MSH:D005124|UMLS:C0015397 hp.json Eye disease|Abnormal eye|Abnormality of the eye http://purl.obolibrary.org/obo/HP_0000478 hposlim_core BFO:0000051 biolink:NamedThing has part Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. BFO:0000051 hp.json http://purl.obolibrary.org/obo/BFO_0000051 http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_ontology GO:1990239 biolink:MolecularActivity steroid hormone binding Binding to a steroid hormone. hp.json http://purl.obolibrary.org/obo/GO_1990239 HP:0000471 biolink:PhenotypicFeature Gastrointestinal angiodysplasia Dysplasia affecting the vasculature of the gastrointestinal tract. UMLS:C0854242 hp.json GI angiodysplasia http://purl.obolibrary.org/obo/HP_0000471 HP:0000470 biolink:PhenotypicFeature Short neck Diminished length of the neck. UMLS:C0521525|SNOMEDCT_US:95427009 hp.json Decreased length of neck|Cervical shortening|Decreased cervical height|Decreased cervical length|Short neck http://purl.obolibrary.org/obo/HP_0000470 hposlim_core HP:0012451 biolink:PhenotypicFeature Acute constipation Constipation of sudden onset and lasting for less than three months. UMLS:C0401148|SNOMEDCT_US:197119006 hp.json http://purl.obolibrary.org/obo/HP_0012451 HP:0012452 biolink:PhenotypicFeature Restless legs A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia). SNOMEDCT_US:32914008|MSH:D012148|UMLS:C0035258 hp.json Wittmaack-Ekbom syndrome|Willis-Ekbom disease|Restless legs syndrome http://purl.obolibrary.org/obo/HP_0012452 HP:0012453 biolink:PhenotypicFeature Bilateral wrist flexion contracture A chronic loss of wrist joint motion on the right and left sides. UMLS:C4020723|UMLS:C4022899 hp.json Bilateral wrist contracture http://purl.obolibrary.org/obo/HP_0012453 HP:0012454 biolink:PhenotypicFeature Unilateral wrist flexion contracture A chronic loss of wrist joint motion on one side only. UMLS:C4020722|UMLS:C4022898 hp.json Unilateral wrist contracture http://purl.obolibrary.org/obo/HP_0012454 HP:0012455 biolink:PhenotypicFeature obsolete Large artery calcification hp.json http://purl.obolibrary.org/obo/HP_0012455 HP:0012456 biolink:PhenotypicFeature Medial arterial calcification Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries. UMLS:C4022896 hp.json http://purl.obolibrary.org/obo/HP_0012456 HP:0012457 biolink:PhenotypicFeature Medial calcification of medium-sized arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries. UMLS:C4022895 hp.json http://purl.obolibrary.org/obo/HP_0012457 HP:0012458 biolink:PhenotypicFeature Medial calcification of small arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries. UMLS:C4022894 hp.json http://purl.obolibrary.org/obo/HP_0012458 HP:0012450 biolink:PhenotypicFeature Chronic constipation Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. UMLS:C0401149|SNOMEDCT_US:236069009 hp.json Infrequent bowel movements|Chronic constipation http://purl.obolibrary.org/obo/HP_0012450 HP:0000484 biolink:PhenotypicFeature Hyperopic astigmatism A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. SNOMEDCT_US:449734001|UMLS:C1847524 hp.json http://purl.obolibrary.org/obo/HP_0000484 HP:0000483 biolink:PhenotypicFeature Astigmatism A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. UMLS:C0004106|MSH:D001251|SNOMEDCT_US:82649003 hp.json Astigmatism|Abnormal curving of the cornea or lens of the eye http://purl.obolibrary.org/obo/HP_0000483 hposlim_core HP:0000486 biolink:PhenotypicFeature Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. SNOMEDCT_US:22066006|MSH:D013285|SNOMEDCT_US:128602000|UMLS:C0038379 hp.json Squint|Cross-eyed|Squint eyes http://purl.obolibrary.org/obo/HP_0000486 hposlim_core HP:0000485 biolink:PhenotypicFeature Megalocornea An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. UMLS:C1167712|SNOMEDCT_US:204118005|MSH:C562829|UMLS:C0344530|SNOMEDCT_US:268158009 hp.json Macrocornea|Anterior megalophthalmos|Enlarged cornea|Increased corneal diameter http://purl.obolibrary.org/obo/HP_0000485 hposlim_core HP:0000488 biolink:PhenotypicFeature Retinopathy Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. SNOMEDCT_US:29555009|MSH:D012164|UMLS:C0035309 hp.json Noninflammatory retina disease http://purl.obolibrary.org/obo/HP_0000488 hposlim_core HP:0000487 biolink:PhenotypicFeature obsolete Congenital strabismus hp.json http://purl.obolibrary.org/obo/HP_0000487 HP:0000489 biolink:PhenotypicFeature obsolete Abnormality of globe location or size hp.json http://purl.obolibrary.org/obo/HP_0000489 HP:0012459 biolink:PhenotypicFeature Hypnic headache A headache disorder that occurs exclusively at night, waking the affected individual from sleep. SNOMEDCT_US:122711000119109|UMLS:C0752150|MSH:D051270 hp.json Alarm clock headache http://purl.obolibrary.org/obo/HP_0012459 HP:0000480 biolink:PhenotypicFeature Retinal coloboma A notch or cleft of the retina. UMLS:C3540764 hp.json Hole in the back of the eye http://purl.obolibrary.org/obo/HP_0000480 hposlim_core BFO:0000040 biolink:NamedThing material entity An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. hp.json http://purl.obolibrary.org/obo/BFO_0000040 HP:0000482 biolink:PhenotypicFeature Microcornea A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. SNOMEDCT_US:26098002|UMLS:C0266544|UMLS:C1167713 hp.json Decreased corneal diameter|Cornea of eye less than 10mm in diameter http://purl.obolibrary.org/obo/HP_0000482 hposlim_core HP:0000481 biolink:PhenotypicFeature Abnormal cornea morphology Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. UMLS:C4020889|UMLS:C1855670 hp.json Corneal abnormality|Corneal abnormalities|Cornela disease|Abnormality of the cornea http://purl.obolibrary.org/obo/HP_0000481 hposlim_core HP:0012440 biolink:PhenotypicFeature Abnormal biliary tract morphology A structural abnormality of the biliary tree. UMLS:C4021086 hp.json Anomaly of the biliary tract http://purl.obolibrary.org/obo/HP_0012440 HP:0012441 biolink:PhenotypicFeature Sphincter of Oddi dyskinesia Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum. UMLS:C4048750|MSH:D046628|SNOMEDCT_US:430887001|UMLS:C0878588 hp.json Sphincter of Oddi dysfunction http://purl.obolibrary.org/obo/HP_0012441 HP:0012442 biolink:PhenotypicFeature Gallbladder dyskinesia Reduced motility of the gallbladder with reduced emptying fraction. MSH:D001657|UMLS:C1449631 hp.json http://purl.obolibrary.org/obo/HP_0012442 HP:0012443 biolink:PhenotypicFeature Abnormality of brain morphology A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. UMLS:C4021085 hp.json Abnormality of the brain|Abnormal shape of brain http://purl.obolibrary.org/obo/HP_0012443 HP:0012444 biolink:PhenotypicFeature Brain atrophy Partial or complete wasting (loss) of brain tissue that was once present. SNOMEDCT_US:278849000|SNOMEDCT_US:52522001|UMLS:C0235946|UMLS:C0154671|SNOMEDCT_US:418143002 hp.json Brain degeneration|Brain wasting http://purl.obolibrary.org/obo/HP_0012444 CHEBI:78608 biolink:ChemicalSubstance alpha-amino acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3. MetaCyc:Alpha-Amino-Acids hp.json an alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_78608 3_STAR HP:0012446 biolink:PhenotypicFeature Decreased CSF 5-methyltetrahydrofolate concentration A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. MSH:C567791|SNOMEDCT_US:711403001|UMLS:C2751584|UMLS:C4022901 hp.json Reduced CSF 5-methyltetrahydrofolate concentration|Cerebral folate deficiency|Low CSF 5-methyltetrahydrofolate http://purl.obolibrary.org/obo/HP_0012446 HP:0012447 biolink:PhenotypicFeature Abnormal myelination Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. UMLS:C1857704 hp.json http://purl.obolibrary.org/obo/HP_0012447 HP:0000458 biolink:PhenotypicFeature Anosmia An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. MSH:D000857|SNOMEDCT_US:44169009|UMLS:C0003126 hp.json Lost smell|Loss of smell http://purl.obolibrary.org/obo/HP_0000458 hposlim_core HP:0000451 biolink:PhenotypicFeature Triangular nasal tip UMLS:C1839765 hp.json Triangular nasal tip|Triangular shaped tip of nose http://purl.obolibrary.org/obo/HP_0000451 HP:0000453 biolink:PhenotypicFeature Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. MSH:D002754|UMLS:C0008297|SNOMEDCT_US:204508009|Fyler:4203 hp.json Blockage of the rear opening of the nasal cavity http://purl.obolibrary.org/obo/HP_0000453 hposlim_core HP:0000452 biolink:PhenotypicFeature Choanal stenosis Abnormal narrowing of the choana (the posterior nasal aperture). UMLS:C0584837|SNOMEDCT_US:306963008 hp.json Narrowing of the rear opening of the nasal cavity|Coanal stenosis http://purl.obolibrary.org/obo/HP_0000452 hposlim_core HP:0000455 biolink:PhenotypicFeature Broad nasal tip Increase in width of the nasal tip. UMLS:C0426429|SNOMEDCT_US:249327002 hp.json Increased breadth of nasal tip|Nasal tip, wide|Wide tip of nose|Broad tip of nose|Broad upturned nose|Broad nasal tip|Nasal tip, broad|Increased width of tip of nose|Broad, upturned nose|Increased width of nasal tip|Increased breadth of tip of nose http://purl.obolibrary.org/obo/HP_0000455 HP:0000454 biolink:PhenotypicFeature Flared nostrils SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873 hp.json Flared nostrils|Flared nasal alae http://purl.obolibrary.org/obo/HP_0000454 HP:0000457 biolink:PhenotypicFeature Depressed nasal ridge Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. UMLS:C1842876 hp.json Recessed dorsum of nose|Retruded nasal dorsum|Depressed nasal dorsum|Recessed nasal ridge|Flat dorsum of nose|Flat nose|Recessed nasal dorsum|Retruded nasal ridge|Retruded dorsum of nose|Flat nasal dorsum|Depressed dorsum of nose http://purl.obolibrary.org/obo/HP_0000457 hposlim_core CHEBI:52090 biolink:ChemicalSubstance methoxide An organic anion that is the conjugate base of methanol. Reaxys:1839368 hp.json methoxide ion http://purl.obolibrary.org/obo/CHEBI_52090 3_STAR HP:0000456 biolink:PhenotypicFeature Bifid nasal tip A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. SNOMEDCT_US:249326006|UMLS:C4020890|UMLS:C0426428 hp.json Cleft tip of nose|Notched tip of nose|Notched nasal tip|Bifid tip of nose|Cleft nasal tip http://purl.obolibrary.org/obo/HP_0000456 HP:0012448 biolink:PhenotypicFeature Delayed myelination Delayed myelination. UMLS:C1277241|SNOMEDCT_US:135810007 hp.json http://purl.obolibrary.org/obo/HP_0012448 HP:0012449 biolink:PhenotypicFeature Sacroiliac joint synovitis Inflammation of the synovial membrane of the sacroiliac joint. UMLS:C4022900 hp.json http://purl.obolibrary.org/obo/HP_0012449 GO:1990266 biolink:BiologicalProcess neutrophil migration The movement of a neutrophil within or between different tissues and organs of the body. hp.json http://purl.obolibrary.org/obo/GO_1990266 HP:0012430 biolink:PhenotypicFeature Cerebral white matter hypoplasia Underdevelopment of the cerebral white matter. UMLS:C4022908|UMLS:C4020727 hp.json Paucity of cerebral white matter http://purl.obolibrary.org/obo/HP_0012430 CHEBI:78616 biolink:ChemicalSubstance carbohydrates and carbohydrate derivatives Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. hp.json carbohydrates and derivatives|carbohydrates and their derivatives http://purl.obolibrary.org/obo/CHEBI_78616 3_STAR HP:0012431 biolink:PhenotypicFeature Episodic fatigue Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation. UMLS:C4022907 hp.json http://purl.obolibrary.org/obo/HP_0012431 HP:0012432 biolink:PhenotypicFeature Chronic fatigue Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. UMLS:C0518656 hp.json Chronic fatigue|Chronic extreme exhaustion http://purl.obolibrary.org/obo/HP_0012432 HP:0012433 biolink:PhenotypicFeature Abnormal social behavior An abnormality of actions or reactions of a person taking place during interactions with others. UMLS:C4021087|UMLS:C4020726 hp.json Abnormal social behavior|Abnormal social interactions|Abnormal social behaviour http://purl.obolibrary.org/obo/HP_0012433 HP:0012434 biolink:PhenotypicFeature Delayed social development A failure to meet one or more age-related milestones of social behavior. UMLS:C4022906 hp.json Delayed social development http://purl.obolibrary.org/obo/HP_0012434 HP:0012435 biolink:PhenotypicFeature Ventral shortening of foreskin Reduction in length of the ventral (lower) skin of prepuce of penis. UMLS:C4022905 hp.json http://purl.obolibrary.org/obo/HP_0012435 HP:0012436 biolink:PhenotypicFeature Nonocclusive coronary artery atherosclerosis Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries. UMLS:C4020724|UMLS:C4020725 hp.json Non-occlusive coronary artery stenosis|Non-occlusive coronary artery disease|Nonocclusive coronary artery stenosis|Nonocclusive coronary artery disease http://purl.obolibrary.org/obo/HP_0012436 HP:0000464 biolink:PhenotypicFeature Abnormality of the neck An abnormality of the neck. UMLS:C4280628|UMLS:C0266623|UMLS:C0575167|SNOMEDCT_US:40052002|SNOMEDCT_US:298390003 hp.json Anomaly of the neck|Abnormality of the neck|Deformity of the neck|Malformation of the neck http://purl.obolibrary.org/obo/HP_0000464 hposlim_core HP:0000463 biolink:PhenotypicFeature Anteverted nares Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). SNOMEDCT_US:708670007|UMLS:C1840077 hp.json Upturned nasal tip|Upturned nose|Anteverted nostrils|Upturned nasal tips|Upturned nostrils|Upturned nares|Nostrils anteverted|Nasal tip, upturned|Anteverted nose http://purl.obolibrary.org/obo/HP_0000463 HP:0000466 biolink:PhenotypicFeature Limited neck range of motion UMLS:C1859212 hp.json Limited neck range of motion|Limited cervical range of motion http://purl.obolibrary.org/obo/HP_0000466 HP:0000465 biolink:PhenotypicFeature Webbed neck Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. UMLS:C0221217|SNOMEDCT_US:11731003 hp.json Pterygium colli|Neck webbing|Webbed neck http://purl.obolibrary.org/obo/HP_0000465 hposlim_core HP:0000468 biolink:PhenotypicFeature Increased adipose tissue around the neck An increased amount of subcutaneous fat tissue around the neck. UMLS:C4025850 hp.json Increased fat around the neck http://purl.obolibrary.org/obo/HP_0000468 HP:0000467 biolink:PhenotypicFeature Neck muscle weakness Decreased strength of the neck musculature. UMLS:C0240479 hp.json Flaccid neck|Neck muscle weakness|Floppy neck http://purl.obolibrary.org/obo/HP_0000467 BFO:0000066 biolink:NamedThing occurs in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t BFO:0000066 hp.json http://purl.obolibrary.org/obo/BFO_0000066 http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_ontology HP:0012437 biolink:PhenotypicFeature Abnormal gallbladder morphology A structural anomaly of the gallbladder. UMLS:C4022904 hp.json Abnormal shape of gallbladder|Abnormal gallbladder structure http://purl.obolibrary.org/obo/HP_0012437 HP:0012438 biolink:PhenotypicFeature Abnormal gallbladder physiology A functional anomaly of the gallbladder. UMLS:C4022903 hp.json http://purl.obolibrary.org/obo/HP_0012438 BFO:0000067 biolink:NamedThing contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t BFO:0000067 hp.json http://purl.obolibrary.org/obo/BFO_0000067 HP:0012439 biolink:PhenotypicFeature Abnormal biliary tract physiology A functional abnormality of the biliary tree. UMLS:C4022902 hp.json http://purl.obolibrary.org/obo/HP_0012439 BFO:0000062 biolink:NamedThing preceded by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) BFO:0000062 hp.json takes place after|is preceded by http://purl.obolibrary.org/obo/BFO_0000062 ro-eco BFO:0000063 biolink:NamedThing precedes x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. BFO:0000063 hp.json http://purl.obolibrary.org/obo/BFO_0000063 ro-eco HP:0000460 biolink:PhenotypicFeature Narrow nose Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. SNOMEDCT_US:249322008|UMLS:C0426422 hp.json Thin nose|Narrow nose|Decreased nasal width|Decreased nasal breadth http://purl.obolibrary.org/obo/HP_0000460 BFO:0000019 biolink:NamedThing quality hp.json http://purl.obolibrary.org/obo/BFO_0000019 BFO:0000015 biolink:NamedThing process An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. hp.json http://purl.obolibrary.org/obo/BFO_0000015 BFO:0000016 biolink:NamedThing disposition hp.json http://purl.obolibrary.org/obo/BFO_0000016 BFO:0000017 biolink:NamedThing realizable entity A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. hp.json http://purl.obolibrary.org/obo/BFO_0000017 HP:0012495 biolink:PhenotypicFeature Posterior cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery. UMLS:C1504569 hp.json http://purl.obolibrary.org/obo/HP_0012495 HP:0012496 biolink:PhenotypicFeature Reduced maximal inspiratory pressure A decrease in the maximum amount of negative pressure a person can generate during an inhalation. UMLS:C4022880 hp.json http://purl.obolibrary.org/obo/HP_0012496 HP:0012497 biolink:PhenotypicFeature Reduced maximal expiratory pressure A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration. UMLS:C4022879 hp.json http://purl.obolibrary.org/obo/HP_0012497 HP:0012498 biolink:PhenotypicFeature Nuchal cord A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. SNOMEDCT_US:302929008|MSH:D053589|UMLS:C0405124 hp.json http://purl.obolibrary.org/obo/HP_0012498 HP:0012499 biolink:PhenotypicFeature Descending aortic dissection A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. UMLS:C4022878 hp.json Type B aortic dissection http://purl.obolibrary.org/obo/HP_0012499 BFO:0000004 biolink:NamedThing independent continuant b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002]) hp.json http://purl.obolibrary.org/obo/BFO_0000004 BFO:0000006 biolink:NamedThing spatial region hp.json http://purl.obolibrary.org/obo/BFO_0000006 HP:0012490 biolink:PhenotypicFeature Panniculitis Inflammation of adipose tissue. UMLS:C0030326|MSH:D015434|SNOMEDCT_US:22125009 hp.json Inflammation of adipose tissue|Inflammation of fat tissue http://purl.obolibrary.org/obo/HP_0012490 HP:0012491 biolink:PhenotypicFeature Abnormal dense tubular system An anomaly of the intracellular membrane complexes known as the dense tubular system. UMLS:C4022881 hp.json http://purl.obolibrary.org/obo/HP_0012491 HP:0012492 biolink:PhenotypicFeature Cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of a cerebral artery. UMLS:C1504438 hp.json Narrowing of a cerebral artery http://purl.obolibrary.org/obo/HP_0012492 HP:0012493 biolink:PhenotypicFeature Middle cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery. UMLS:C1504568|SNOMEDCT_US:21290001000004104 hp.json http://purl.obolibrary.org/obo/HP_0012493 HP:0012494 biolink:PhenotypicFeature Anterior cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery. UMLS:C1504567 hp.json http://purl.obolibrary.org/obo/HP_0012494 CHEBI:78631 biolink:ChemicalSubstance chroman-6-ol A chromanol that is chromane in which the hydrogen at position 6 is replaced by a hydroxy group. Reaxys:1283166 hp.json 3,4-dihydrobenzopyran-6-ol|3,4-dihydro-2H-chromen-6-ol http://purl.obolibrary.org/obo/CHEBI_78631 3_STAR BFO:0000001 biolink:NamedThing entity hp.json http://purl.obolibrary.org/obo/BFO_0000001 BFO:0000002 biolink:NamedThing continuant An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. hp.json http://purl.obolibrary.org/obo/BFO_0000002 BFO:0000003 biolink:NamedThing occurrent An entity that has temporal parts and that happens, unfolds or develops through time. hp.json http://purl.obolibrary.org/obo/BFO_0000003 HP:0012484 biolink:PhenotypicFeature Abnormal dense granules Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. UMLS:C4022885 hp.json http://purl.obolibrary.org/obo/HP_0012484 HP:0012485 biolink:PhenotypicFeature Abnormal surface-connected open canalicular system An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction. UMLS:C4021840 hp.json http://purl.obolibrary.org/obo/HP_0012485 CL:0009084 biolink:Cell epithelial cell of endometrial gland An epithelial cell that is part of an endometrial gland. EFO:0010710 hp.json endometrial glandular epithelial cell http://purl.obolibrary.org/obo/CL_0009084 location_grouping HP:0012486 biolink:PhenotypicFeature Myelitis Inflammation of the spinal cord. UMLS:C0026975|SNOMEDCT_US:41370002|MSH:D009187 hp.json Inflammation of spinal cord http://purl.obolibrary.org/obo/HP_0012486 HP:0012487 biolink:PhenotypicFeature Cerebellopontine angle arachnoid cyst An arachnoid cyst located at the margin of the cerebellum and pons. UMLS:C4022884 hp.json http://purl.obolibrary.org/obo/HP_0012487 HP:0012488 biolink:PhenotypicFeature Intraventricular arachnoid cyst An arachnoid cyst located within the ventricular system. UMLS:C4022883 hp.json http://purl.obolibrary.org/obo/HP_0012488 HP:0012489 biolink:PhenotypicFeature Suprasellar arachnoid cyst An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. UMLS:C4022882 hp.json http://purl.obolibrary.org/obo/HP_0012489 HP:0012480 biolink:PhenotypicFeature Abnormal cerebral vein morphology An anomaly of cerebral veins. UMLS:C4022888 hp.json Abnormality of cerebral veins http://purl.obolibrary.org/obo/HP_0012480 HP:0012481 biolink:PhenotypicFeature Cerebral venous angioma A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. MSH:D020787|UMLS:C1956261 hp.json Developmental Venous Anomaly http://purl.obolibrary.org/obo/HP_0012481 HP:0012482 biolink:PhenotypicFeature Frontal venous angioma A venous angioma of the frontal lobe of the brain. UMLS:C4022887 hp.json http://purl.obolibrary.org/obo/HP_0012482 HP:0012483 biolink:PhenotypicFeature Abnormal alpha granules Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. UMLS:C4022886 hp.json http://purl.obolibrary.org/obo/HP_0012483 HP:0000495 biolink:PhenotypicFeature Recurrent corneal erosions The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. MSH:D003320|UMLS:C0010043|SNOMEDCT_US:91514001|UMLS:C4020888|UMLS:C0155119|SNOMEDCT_US:2055003 hp.json Recurrent corneal ulceration|Corneal erosions, recurrent|Recurrent breakdown of clear protective layer of eye|Epithelial corneal erosions|Recurrent corneal ulcerations http://purl.obolibrary.org/obo/HP_0000495 HP:0000494 biolink:PhenotypicFeature Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean. UMLS:C0423110|SNOMEDCT_US:246800008 hp.json Downward slanting palpebral fissures|Downslanting palpebral fissures|Antimongoloid slant of palpebral fissures|Downward slanted palpebral fissures|Downward slanting of the opening between the eyelids|Antimongoloid slanted palpebral fissures|Downslanting palpebral fissure|Down-slanting palpebral fissures|Down slanting palpebral fissures|Down-slanted palpebral fissures|Downward-slanting palpebral fissures|Antimongoloid eye slant|Down-slanting palpebral fissure|Palpebral fissures down-slanted http://purl.obolibrary.org/obo/HP_0000494 hposlim_core HP:0000497 biolink:PhenotypicFeature Globe retraction and deviation on abduction UMLS:C4025848 hp.json http://purl.obolibrary.org/obo/HP_0000497 HP:0000496 biolink:PhenotypicFeature Abnormality of eye movement An abnormality in voluntary or involuntary eye movements or their control. UMLS:C0497202|SNOMEDCT_US:103252009 hp.json Eye movement issue|Abnormal eye movement|Abnormal extraocular movement|Abnormal ocular movements|Abnormal movement of the globe of the eye|Eye movement abnormalities|Abnormal extraocular movements|Ocular movement abnormalities|Oculomotor abnormalities|Abnormality of eye movement|Abnormal eye movements|Abnormal motility of the globe of the eye|Abnormal eye motility http://purl.obolibrary.org/obo/HP_0000496 hposlim_core HP:0000499 biolink:PhenotypicFeature Abnormal eyelash morphology An abnormality of the eyelashes. UMLS:C2675111 hp.json Eyelash abnormality|Abnormal eyelashes|Abnormality of the eyelashes http://purl.obolibrary.org/obo/HP_0000499 hposlim_core HP:0000498 biolink:PhenotypicFeature Blepharitis Inflammation of the eyelids. MSH:D001762|SNOMEDCT_US:41446000|UMLS:C0339063|SNOMEDCT_US:231796003|UMLS:C0005741 hp.json Cellulitis of eyelids|Inflammation of eyelids http://purl.obolibrary.org/obo/HP_0000498 hposlim_core BFO:0000034 biolink:NamedThing function hp.json http://purl.obolibrary.org/obo/BFO_0000034 HP:0000491 biolink:PhenotypicFeature Keratitis Inflammation of the cornea. MSH:D007634|SNOMEDCT_US:5888003|UMLS:C0022568 hp.json Corneal inflammation http://purl.obolibrary.org/obo/HP_0000491 hposlim_core HP:0000490 biolink:PhenotypicFeature Deeply set eye An eye that is more deeply recessed into the plane of the face than is typical. SNOMEDCT_US:80093006|SNOMEDCT_US:246923005|UMLS:C0423224|UMLS:C0014306|MSH:D015841 hp.json Ocular depression|Sunken eyes|Deep-set eyes|Deep set eye|Enophthalmos|Deeply set eye|Sunken eye http://purl.obolibrary.org/obo/HP_0000490 hposlim_core BFO:0000030 biolink:NamedThing object hp.json http://purl.obolibrary.org/obo/BFO_0000030 HP:0000493 biolink:PhenotypicFeature Abnormal foveal morphology An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. UMLS:C4025849 hp.json Abnormality of the fovea http://purl.obolibrary.org/obo/HP_0000493 HP:0000492 biolink:PhenotypicFeature Abnormal eyelid morphology An abnormality of the eyelids. UMLS:C4021803 hp.json Abnormality of the eyelid|Abnormality of the eyelids http://purl.obolibrary.org/obo/HP_0000492 hposlim_core HP:0012473 biolink:PhenotypicFeature Tongue atrophy Wasting of the tongue. UMLS:C0241423|SNOMEDCT_US:249382006|SNOMEDCT_US:50805004|UMLS:C0426494 hp.json Atrophy of the tongue|Lingual wasting|Wasting of the tongue|Lingual atrophy http://purl.obolibrary.org/obo/HP_0012473 HP:0012474 biolink:PhenotypicFeature Carotid artery occlusion Complete obstruction of a carotid artery. SNOMEDCT_US:69798007|UMLS:C0265101|SNOMEDCT_US:266254007 hp.json Obstructed carotid artery http://purl.obolibrary.org/obo/HP_0012474 CL:0009095 biolink:Cell endothelial cell of uterus An endothelial cell that is part of a uterus. EFO:0010711 hp.json uterine endothelial cell http://purl.obolibrary.org/obo/CL_0009095 location_grouping HP:0012475 biolink:PhenotypicFeature Decreased circulating level of specific antibody The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism. UMLS:C0398711|SNOMEDCT_US:234556002 hp.json Abnormal specific antibody response|Decreased specific antibody in blood|Specific antibody deficiency http://purl.obolibrary.org/obo/HP_0012475 HP:0012476 biolink:PhenotypicFeature Decreased specific pneumococcal antibody level The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci. UMLS:C4022890 hp.json Low pneumococcal antibody titer|Specific pneumococcal antibody deficiency http://purl.obolibrary.org/obo/HP_0012476 HP:0012477 biolink:PhenotypicFeature Vocal tremor A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability. UMLS:C4022889 hp.json Shakey voice|Vocal tremor http://purl.obolibrary.org/obo/HP_0012477 HP:0012478 biolink:PhenotypicFeature Temporomandibular joint ankylosis Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. UMLS:C0685924|SNOMEDCT_US:50603008|SNOMEDCT_US:298231004|MSH:C536957|SNOMEDCT_US:91866004|UMLS:C2931375|UMLS:C0575010 hp.json Ankylosis of temporomandibular joint|Adhesion of the temporomandibular joint|Rigidity of the temporomandibular joint|Freezing of the temporomandibular joint|Temporomandibular joint fusion|Freezing of jaw joint http://purl.obolibrary.org/obo/HP_0012478 CL:0009092 biolink:Cell endothelial cell of placenta An endothelial cell that is part of a placenta. EFO:0010708 hp.json placental endothelial cell http://purl.obolibrary.org/obo/CL_0009092 location_grouping HP:0012479 biolink:PhenotypicFeature Temporomandibular joint crepitus Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. SNOMEDCT_US:298377005|UMLS:C4280315|UMLS:C4280314|UMLS:C4280313|UMLS:C0575154 hp.json Jaw joint noise|Temporomandibular joint grating sound|Temporomandibular joint popping sound|Jaw joint clicking sound|Temporomandibular joint clicking sound|Jaw joint grating sound|Jaw joint popping sound|Jaw joint sounds|Temporomandibular joint sounds|Temporomandibular joint noise|Jaw joint crepitus http://purl.obolibrary.org/obo/HP_0012479 UBERON:5002544 biolink:AnatomicalEntity digit plus metapodial segment A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json digit|digit digitopodial subdivision|digit ( phalanges plus metapodial) plus soft tissue|digit ray http://purl.obolibrary.org/obo/UBERON_5002544 CL:0009093 biolink:Cell smooth muscle cell of placenta A smooth muscle cell that is part of a placenta. EFO:0010709 hp.json placental smooth muscle cell http://purl.obolibrary.org/obo/CL_0009093 location_grouping HP:0012470 biolink:PhenotypicFeature Setting-sun eye phenomenon An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. UMLS:C0423128|UMLS:C4020721|SNOMEDCT_US:63342001 hp.json Setting-sun eye phenomenon|Sun setting eyes|Sunsetting eye|Eyes fixed downward http://purl.obolibrary.org/obo/HP_0012470 HP:0012471 biolink:PhenotypicFeature Thick vermilion border Increased width of the skin of vermilion border region of upper lip. UMLS:C1836543 hp.json Prominent lips|Plump lips|Increased volume of lip|Thick lips|Full lips|Increased volume of lip vermillion http://purl.obolibrary.org/obo/HP_0012471 HP:0012472 biolink:PhenotypicFeature Eclabion A turning outward of the lip or lips, that is, eversion of the lips. UMLS:C3550430 hp.json Outward turned lips|Everted lips|Eclabium http://purl.obolibrary.org/obo/HP_0012472 BFO:0000023 biolink:NamedThing role A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. hp.json http://purl.obolibrary.org/obo/BFO_0000023 BFO:0000020 biolink:NamedThing specifically dependent continuant A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. hp.json http://purl.obolibrary.org/obo/BFO_0000020 HP:0100488 biolink:PhenotypicFeature Synostosis of the proximal phalanx of the hallux with the 1st metatarsal UMLS:C4022043 hp.json Fusion of the innermost big toe bone with the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0100488 HP:0100489 biolink:PhenotypicFeature Proximal/middle symphalangism of 2nd toe Bony fusion of the middle and proximal phalanges of the 2nd toe. UMLS:C4020972 hp.json Symphalangism of the middle and proximal phalanges of the 2nd toe|Fused middle and innermost bones of 2nd toe http://purl.obolibrary.org/obo/HP_0100489 GO:0032438 biolink:BiologicalProcess melanosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. hp.json melanosome organisation|melanosome organization and biogenesis http://purl.obolibrary.org/obo/GO_0032438 HP:0100486 biolink:PhenotypicFeature Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal UMLS:C4022045 hp.json Fused innermost pinky toe bone with the 5th long bone of foot http://purl.obolibrary.org/obo/HP_0100486 HP:0100487 biolink:PhenotypicFeature Triangular shaped distal phalanx of the 5th toe UMLS:C4022044 hp.json Triangular shaped outermost bone of the pinky toe|Triangular shaped outermost bone of the little toe|Triangular shaped outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100487 HP:0100484 biolink:PhenotypicFeature Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal UMLS:C4022047 hp.json Fused innermost bones of third toe with 3rd long bone of foot http://purl.obolibrary.org/obo/HP_0100484 HP:0100485 biolink:PhenotypicFeature Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal UMLS:C4022046 hp.json Fused innermost bone of the 4th toe with 4th long bone of foot http://purl.obolibrary.org/obo/HP_0100485 HP:0100482 biolink:PhenotypicFeature Proximal/middle symphalangism of 5th toe Bony fusion of the middle and proximal phalanges of the 5th toe. UMLS:C4020973 hp.json Symphalangism of the middle and proximal phalanges of the 5th toe|Fused innermost and middle pinkie toe bones|Fused innermost and middle pinky toe bones|Fused innermost and middle little toe bones http://purl.obolibrary.org/obo/HP_0100482 HP:0100483 biolink:PhenotypicFeature Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal UMLS:C4022048 hp.json Fused innermost bone of 2nd toe with the 2nd long bone of foot http://purl.obolibrary.org/obo/HP_0100483 HP:0100480 biolink:PhenotypicFeature Proximal/middle symphalangism of 3rd toe Bony fusion of the middle and proximal phalanges of the 3rd toe. UMLS:C4020975 hp.json Fused innermost and middle bones of 3rd toe|Symphalangism of the middle and proximal phalanges of the 3rd toe http://purl.obolibrary.org/obo/HP_0100480 HP:0100481 biolink:PhenotypicFeature Proximal/middle symphalangism of 4th toe Bony fusion of the middle and proximal phalanges of the 4th toe. UMLS:C4020974 hp.json Symphalangism of the middle and proximal phalanges of the 4th toe|Fused innermost and middle bones of 4th toe http://purl.obolibrary.org/obo/HP_0100481 GO:0032432 biolink:NamedThing actin filament bundle hp.json http://purl.obolibrary.org/obo/GO_0032432 HP:0100499 biolink:PhenotypicFeature Tibial deviation of toes UMLS:C3806533 hp.json Medial deviation of toes http://purl.obolibrary.org/obo/HP_0100499 HP:0100497 biolink:PhenotypicFeature Vitamin B3 deficiency SNOMEDCT_US:418279001|UMLS:C0030783|MSH:D010383|SNOMEDCT_US:418186002 hp.json Vitamin B3 deficiency http://purl.obolibrary.org/obo/HP_0100497 HP:0100498 biolink:PhenotypicFeature Deviation of toes UMLS:C4022039 hp.json http://purl.obolibrary.org/obo/HP_0100498 HP:0100495 biolink:PhenotypicFeature Mastocytosis The presence of an increased number of mast cells and CD34+ mast cell precursors in the body. SNOMEDCT_US:125541005|UMLS:C0024899|MSH:D008415|SNOMEDCT_US:397007003 hp.json http://purl.obolibrary.org/obo/HP_0100495 HP:0100496 biolink:PhenotypicFeature Abnormality of the vitamin B3 metabolism UMLS:C4022040 hp.json Abnormality of the vitamin B3 metabolism http://purl.obolibrary.org/obo/HP_0100496 HP:0100493 biolink:PhenotypicFeature Hypoammonemia A decreased concentration of ammonia in the blood. UMLS:C4022041 hp.json http://purl.obolibrary.org/obo/HP_0100493 HP:0100494 biolink:PhenotypicFeature Abnormal mast cell morphology Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. SNOMEDCT_US:397017008|UMLS:C1301149 hp.json Abnormality of mastocytes|Abnormality of mast cells http://purl.obolibrary.org/obo/HP_0100494 CHEBI:140785 biolink:ChemicalSubstance R-cob(III)alamin MetaCyc:CPD-20938 hp.json an R-cob(III)alamin http://purl.obolibrary.org/obo/CHEBI_140785 2_STAR HP:0100491 biolink:PhenotypicFeature Abnormality of lower limb joint UMLS:C4020971 hp.json Abnormality of lower limb joint|Abnormality of the joints of the lower limbs http://purl.obolibrary.org/obo/HP_0100491 HP:0100492 biolink:PhenotypicFeature obsolete Joint contractures involving the joints of the feet hp.json http://purl.obolibrary.org/obo/HP_0100492 HP:0100490 biolink:PhenotypicFeature Camptodactyly of finger The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. SNOMEDCT_US:202281000|UMLS:C0409348 hp.json Camptodactyly of hands|Camptodactyly of proximal interphalangeal joint|Contractures of the proximal interphalangeal joints of the fingers|Permanent flexion of the finger|Proximal interphalangeal finger joint contractures|Flexion contractures of proximal interphalangeal joints http://purl.obolibrary.org/obo/HP_0100490 GO:0007492 biolink:BiologicalProcess endoderm development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. hp.json http://purl.obolibrary.org/obo/GO_0007492 GO:0032418 biolink:BiologicalProcess lysosome localization Any process in which a lysosome is transported to, and/or maintained in, a specific location. hp.json lysosome localisation http://purl.obolibrary.org/obo/GO_0032418 GO:0019438 biolink:BiologicalProcess aromatic compound biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. hp.json aromatic compound formation|aromatic compound biosynthesis|aromatic hydrocarbon biosynthesis|aromatic hydrocarbon biosynthetic process|aromatic compound anabolism|aromatic compound synthesis http://purl.obolibrary.org/obo/GO_0019438 GO:0032402 biolink:BiologicalProcess melanosome transport The directed movement of melanosomes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0032402 PATO:0002212 biolink:NamedThing slender A shape quality inhering in a bearer by virtue of the bearer's being small or narrow in circumference or width in proportion to length or height. hp.json gracile http://purl.obolibrary.org/obo/PATO_0002212 value_slim GO:0044458 biolink:BiologicalProcess motile cilium assembly The aggregation, arrangement and bonding together of a set of components to form a motile cilium. hp.json motile primary cilia formation|nodal cilium formation|motile primary cilium assembly|motile primary cilium formation|nodal cilium assembly|motile primary cilia assembly http://purl.obolibrary.org/obo/GO_0044458 GO:0032401 biolink:BiologicalProcess establishment of melanosome localization The directed movement of a melanosome to a specific location. hp.json establishment of melanosome localisation http://purl.obolibrary.org/obo/GO_0032401 GO:0032400 biolink:BiologicalProcess melanosome localization Any process in which a melanosome is transported to, and/or maintained in, a specific location within the cell. hp.json melanosome localisation http://purl.obolibrary.org/obo/GO_0032400 GO:0007439 biolink:BiologicalProcess ectodermal digestive tract development The process whose specific outcome is the progression of the ectodermal digestive tract over time, from its formation to the mature structure. The ectodermal digestive tract includes those portions that are derived from ectoderm. hp.json ectodermal gut development http://purl.obolibrary.org/obo/GO_0007439 GO:0007442 biolink:BiologicalProcess hindgut morphogenesis The process in which the anatomical structures of the hindgut are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0007442 GO:0007440 biolink:BiologicalProcess foregut morphogenesis The process in which the anatomical structures of the foregut are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0007440 GO:0007417 biolink:BiologicalProcess central nervous system development The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. Wikipedia:Neural_development hp.json CNS development http://purl.obolibrary.org/obo/GO_0007417 GO:0007416 biolink:BiologicalProcess synapse assembly The aggregation, arrangement and bonding together of a set of components to form a synapse. This process ends when the synapse is mature (functional). Wikipedia:Synaptogenesis hp.json synapse biogenesis|synaptogenesis http://purl.obolibrary.org/obo/GO_0007416 goslim_synapse GO:0007423 biolink:BiologicalProcess sensory organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. hp.json sense organ development http://purl.obolibrary.org/obo/GO_0007423 goslim_drosophila GO:0007422 biolink:BiologicalProcess peripheral nervous system development The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. hp.json http://purl.obolibrary.org/obo/GO_0007422 GO:0007420 biolink:BiologicalProcess brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). hp.json http://purl.obolibrary.org/obo/GO_0007420 HP:0100402 biolink:PhenotypicFeature Duplication of the middle phalanx of the 4th toe Partial or complete duplication of middle phalanx of fourth toe. UMLS:C4020995 hp.json Partial/complete duplication of the middle phalanx of the 4th toe|Duplication of the middle phalanx of the fourth toe|Duplication of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100402 HP:0100403 biolink:PhenotypicFeature Duplication of the middle phalanx of the 5th toe Partial or complete duplication of the middle phalanx of the 5th toe. UMLS:C4020994 hp.json Partial/complete duplication of the middle phalanx of the 5th toe|Duplication of the middle bone of the little toe|Duplication of the middle bone of the pinkie toe|Duplication of the middle bone of the pinky toe|Duplication of the middle phalanx of the fifth toe http://purl.obolibrary.org/obo/HP_0100403 HP:0100400 biolink:PhenotypicFeature Duplication of the distal phalanx of the 5th toe Partial or complete duplication of the distal phalanx of little toe. UMLS:C4020997 hp.json Duplication of the outermost bone of the pinky toe|Duplication of the outermost bone of the little toe|Duplication of the distal phalanx of the fifth toe|Duplication of the outermost bone of the pinkie toe|Duplication of the outermost bone of the fifth toe|Partial/complete duplication of the distal phalanx of the 5th toe http://purl.obolibrary.org/obo/HP_0100400 HP:0100401 biolink:PhenotypicFeature Duplication of the middle phalanx of the 3rd toe Partial or complete duplication of middle phalanx of third toe. UMLS:C4020996 hp.json Partial/complete duplication of the middle phalanx of the 3rd toe|Duplication of the middle bone of the 3rd toe|Duplication of the middle phalanx of the third toe http://purl.obolibrary.org/obo/HP_0100401 CHEBI:67011 biolink:ChemicalSubstance folates An N-acyl-L-alpha-amino acid anion obtained by deprotonation of any folic acid. hp.json folate|folate anion|folate anions http://purl.obolibrary.org/obo/CHEBI_67011 3_STAR CHEBI:67016 biolink:ChemicalSubstance tetrahydrofolate A folate obtained by deprotonation of any tetrahydrofolic acid. hp.json tetrahydrofolates|tetrahydrofolate anions|tetrahydrofolate anion http://purl.obolibrary.org/obo/CHEBI_67016 3_STAR CHEBI:67013 biolink:ChemicalSubstance methyl-branched fatty acid anion Any branched-chain fatty acid anion containing methyl branches only. hp.json methyl-branched fatty acid anions http://purl.obolibrary.org/obo/CHEBI_67013 3_STAR HP:0100408 biolink:PhenotypicFeature Complete duplication of the distal phalanx of the 4th toe Complete duplication of the distal phalanx of fourth toe. UMLS:C4020989 hp.json Complete duplication of the distal phalanx of the fourth toe|Complete duplication of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100408 HP:0100409 biolink:PhenotypicFeature Complete duplication of the distal phalanx of the 5th toe Complete duplication of the distal phalanx of little toe. UMLS:C4020988 hp.json Complete duplication of the outermost bone of the little toe|Complete duplication of the outermost bone of the pinkie toe|Complete duplication of the distal phalanx of the fifth toe|Complete duplication of the outermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100409 HP:0100406 biolink:PhenotypicFeature Duplication of the proximal phalanx of the 5th toe Partial or complete duplication of the proximal phalanx of fifth toe. UMLS:C4020991 hp.json Duplication of the innermost bone of the little toe|Duplication of the proximal phalanx of the fifth toe|Duplication of the innermost bone of the pinkie toe|Duplication of the innermost bone of the pinky toe|Partial/complete duplication of the proximal phalanx of the 5th toe http://purl.obolibrary.org/obo/HP_0100406 HP:0100407 biolink:PhenotypicFeature Complete duplication of the distal phalanx of the 3rd toe Complete duplication of distal phalanx of third toe. UMLS:C4020990 hp.json Complete duplication of the distal phalanx of the third toe|Complete duplication of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100407 HP:0100404 biolink:PhenotypicFeature Duplication of the proximal phalanx of the 3rd toe Partial or complete duplication of proximal phalanx of third toe. UMLS:C4020993 hp.json Duplication of the proximal phalanx of the third toe|Duplication of the innermost 3rd toe bone|Partial/complete duplication of the proximal phalanx of the 3rd toe http://purl.obolibrary.org/obo/HP_0100404 HP:0100405 biolink:PhenotypicFeature Duplication of the proximal phalanx of the 4th toe Partial or complete duplication of the proximal phalanx of fourth toe. UMLS:C4020992 hp.json Duplication of the proximal phalanx of the fourth toe|Partial/complete duplication of the proximal phalanx of the 4th toe|Duplication of the innermost 4th toe bone http://purl.obolibrary.org/obo/HP_0100405 HP:0100413 biolink:PhenotypicFeature Complete duplication of the proximal phalanx of the 3rd toe Complete duplication of proximal phalanx of third toe. UMLS:C4022105 hp.json Complete duplication of the innermost 3rd toe bone http://purl.obolibrary.org/obo/HP_0100413 HP:0100414 biolink:PhenotypicFeature Complete duplication of the proximal phalanx of the 4th toe UMLS:C4022104 hp.json Complete duplication of the innermost 4th toe bone http://purl.obolibrary.org/obo/HP_0100414 HP:0100411 biolink:PhenotypicFeature Complete duplication of the middle phalanx of the 4th toe Complete duplication of middle phalanx of fourth toe. UMLS:C4020986 hp.json Complete duplication of the middle phalanx of the fourth toe|Complete duplication of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100411 HP:0100412 biolink:PhenotypicFeature Complete duplication of the middle phalanx of the 5th toe Complete duplication of the middle phalanx of the 5th toe. UMLS:C4020985 hp.json Complete duplication of the middle bone of the little toe|Complete duplication of the middle bone of the pinky toe|Complete duplication of the middle bone of the pinkie toe|Complete duplication of the middle phalanx of the fifth toe http://purl.obolibrary.org/obo/HP_0100412 HP:0100410 biolink:PhenotypicFeature Complete duplication of the middle phalanx of the 3rd toe Complete duplication of middle phalanx of third toe. UMLS:C4020987 hp.json Complete duplication of the middle bone of the 3rd toe|Complete duplication of the middle phalanx of the third toe http://purl.obolibrary.org/obo/HP_0100410 HP:0100419 biolink:PhenotypicFeature Partial duplication of the middle phalanx of the 3rd toe Partial duplication of middle phalanx of third toe. UMLS:C4020980 hp.json Partial duplication of the middle bone of 3rd toe|Partial duplication of the middle phalanx of the third toe http://purl.obolibrary.org/obo/HP_0100419 HP:0100417 biolink:PhenotypicFeature Partial duplication of the distal phalanx of the 4th toe Partial duplication of the distal phalanx of fourth toe. UMLS:C4020982 hp.json Partial duplication of the outermost bone of the fourth toe|Partial duplication of the distal phalanx of the fourth toe http://purl.obolibrary.org/obo/HP_0100417 HP:0100418 biolink:PhenotypicFeature Partial duplication of the distal phalanx of the 5th toe Partial duplication of the distal phalanx of little toe. UMLS:C4020981 hp.json Partial duplication of the outermost bone of the pinky toe|Partial duplication of the outermost bone of the little toe|Partial duplication of the outermost bone of the pinkie toe|Partial duplication of the distal phalanx of the fifth toe|Partial duplication of the outermost bone of the fifth toe http://purl.obolibrary.org/obo/HP_0100418 HP:0100415 biolink:PhenotypicFeature Complete duplication of the proximal phalanx of the 5th toe Complete duplication of the proximal phalanx of fifth toe. UMLS:C4020984 hp.json Complete duplication of the innermost bone of the little toe|Complete duplication of the innermost bone of the pinkie toe|Complete duplication of the proximal phalanx of the fifth toe|Complete duplication of the innermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100415 HP:0100416 biolink:PhenotypicFeature Partial duplication of the distal phalanx of the 3rd toe Partial duplication of distal phalanx of third toe. UMLS:C4020983 hp.json Partial duplication of the distal phalanx of the third toe|Partial duplication of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100416 HP:0100424 biolink:PhenotypicFeature Partial duplication of the proximal phalanx of the 5th toe Partial duplication of the proximal phalanx of fifth toe. UMLS:C4020976 hp.json Partial duplication of the proximal phalanx of the fifth toe|Partial duplication of the innermost bone of the pinkie toe|Partial duplication of the innermost bone of the pinky toe|Partial duplication of the innermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100424 HP:0100425 biolink:PhenotypicFeature Broad middle phalanx of the 3rd toe UMLS:C4022102 hp.json Broad middle 3rd toe bone http://purl.obolibrary.org/obo/HP_0100425 HP:0100422 biolink:PhenotypicFeature Partial duplication of the proximal phalanx of the 3rd toe Partial duplication of proximal phalanx of third toe. UMLS:C4020977 hp.json Partial duplication of the innermost bone of 3rd toe|Partial duplication of the proximal phalanx of the third toe http://purl.obolibrary.org/obo/HP_0100422 HP:0100423 biolink:PhenotypicFeature Partial duplication of the proximal phalanx of the 4th toe UMLS:C4022103 hp.json Partial duplication of the innermost bone of 4th toe http://purl.obolibrary.org/obo/HP_0100423 HP:0100420 biolink:PhenotypicFeature Partial duplication of the middle phalanx of the 4th toe Partial duplication of middle phalanx of fourth toe. UMLS:C4020979 hp.json Partial duplication of the middle bone of the 4th toe|Partial duplication of the middle phalanx of the fourth toe http://purl.obolibrary.org/obo/HP_0100420 HP:0100421 biolink:PhenotypicFeature Partial duplication of the middle phalanx of the 5th toe Partial duplication of the middle phalanx of the 5th toe. UMLS:C4020978 hp.json Partial duplication of the middle bone of the little toe|Partial duplication of the middle bone of the pinky toe|Partial duplication of the middle bone of the pinkie toe|Partial duplication of the middle phalanx of the fifth toe http://purl.obolibrary.org/obo/HP_0100421 CHEBI:82663 biolink:ChemicalSubstance elemental iron An elemental molecular entity in which all of the atoms have atomic number 26. hp.json http://purl.obolibrary.org/obo/CHEBI_82663 3_STAR HP:0100428 biolink:PhenotypicFeature Broad proximal phalanx of the 3rd toe UMLS:C4022099 hp.json Wide innermost bone of 3rd toe http://purl.obolibrary.org/obo/HP_0100428 HP:0100429 biolink:PhenotypicFeature Broad proximal phalanx of the 4th toe UMLS:C4022098 hp.json Wide innermost bone of 4th toe http://purl.obolibrary.org/obo/HP_0100429 HP:0100426 biolink:PhenotypicFeature Broad middle phalanx of the 4th toe UMLS:C4022101 hp.json Broad middle 4th toe bone http://purl.obolibrary.org/obo/HP_0100426 HP:0100427 biolink:PhenotypicFeature Broad middle phalanx of the 5th toe UMLS:C4022100 hp.json Broad middle bone of the pinkie toe|Broad middle bone of the pinky toe|Broad middle bone of the little toe http://purl.obolibrary.org/obo/HP_0100427 HP:0100435 biolink:PhenotypicFeature Bullet-shaped middle phalanx of the 4th toe An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022092 hp.json Bullet-shaped middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100435 HP:0100436 biolink:PhenotypicFeature Bullet-shaped middle phalanx of the 5th toe An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022091 hp.json Bullet-shaped middle bone of the little toe|Bullet-shaped middle bone of the pinkie toe|Bullet-shaped middle bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100436 HP:0100433 biolink:PhenotypicFeature Broad distal phalanx of the 5th toe UMLS:C4022094 hp.json Wide outermost bone of the pinky toe|Wide outermost bone of the little toe|Broad outermost bone of the 5th toe|Wide outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100433 HP:0100434 biolink:PhenotypicFeature Bullet-shaped middle phalanx of the 3rd toe An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022093 hp.json Bullet-shaped middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100434 HP:0100431 biolink:PhenotypicFeature Broad distal phalanx of the 3rd toe UMLS:C4022096 hp.json Broad outermost bone of the 3rd toe|Wide outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100431 HP:0100432 biolink:PhenotypicFeature Broad distal phalanx of the 4th toe UMLS:C4022095 hp.json Wide outermost bone of the 4th toe|Broad outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100432 HP:0100430 biolink:PhenotypicFeature Broad proximal phalanx of the 5th toe UMLS:C4022097 hp.json Broad innermost bone of the little toe|Broad innermost bone of the pinkie toe|Broad innermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100430 PR:000008730 biolink:Protein 4-hydroxyphenylpyruvate dioxygenase A protein that is a translation product of the human HPD gene or a 1:1 ortholog thereof. IUPHARobj:2621 hp.json HPPDase|F Alloantigen|4-hydroxyphenylpyruvic acid oxidase|4HPPD|HPD|PPD|F protein http://purl.obolibrary.org/obo/PR_000008730 CHEBI:79020 biolink:ChemicalSubstance alpha,beta-unsaturated monocarboxylic acid A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond. hp.json 2,3-unsaturated monocarboxylic acid|2,3-unsaturated monocarboxylic acids|alpha,beta-unsaturated monocarboxylic acids http://purl.obolibrary.org/obo/CHEBI_79020 3_STAR CHEBI:79026 biolink:ChemicalSubstance molybdenum cofactor(3-) An organic anionic group derived from molybdenum cofactor(3-). It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). hp.json molybdenum cofactor http://purl.obolibrary.org/obo/CHEBI_79026 3_STAR HP:0100439 biolink:PhenotypicFeature Bullet-shaped proximal phalanx of the 5th toe An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022088 hp.json Bullet-shaped innermost bone of pinky toe|Bullet-shaped innermost bone of little toe|Bullet-shaped innermost bone of pinkie toe http://purl.obolibrary.org/obo/HP_0100439 HP:0100437 biolink:PhenotypicFeature Bullet-shaped proximal phalanx of the 3rd toe An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022090 hp.json Bullet-shaped proximal bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100437 HP:0100438 biolink:PhenotypicFeature Bullet-shaped proximal phalanx of the 4th toe An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022089 hp.json Bullet-shaped proximal bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100438 HP:0100446 biolink:PhenotypicFeature Curved proximal phalanx of the 3rd toe A deviation from the normal straight form of the proximal phalanx of the third toe. UMLS:C4022081 hp.json Curved innermost bone of 3rd toe http://purl.obolibrary.org/obo/HP_0100446 HP:0100447 biolink:PhenotypicFeature Curved proximal phalanx of the 4th toe A deviation from the normal straight form of the proximal phalanx of the fourth toe. UMLS:C4022080 hp.json Curved innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100447 HP:0100444 biolink:PhenotypicFeature Curved middle phalanx of the 4th toe A deviation from the normal straight form of the middle phalanx of the fourth toe. UMLS:C4022083 hp.json Curved middle bone of 4th toe http://purl.obolibrary.org/obo/HP_0100444 HP:0100445 biolink:PhenotypicFeature Curved middle phalanx of the 5th toe A deviation from the normal straight form of the middle phalanx of the fifth toe. UMLS:C4022082 hp.json Curved middle bone of pinky toe|Curved middle bone of little toe|Curved middle bone of pinkie toe http://purl.obolibrary.org/obo/HP_0100445 HP:0100442 biolink:PhenotypicFeature Bullet-shaped distal phalanx of the 5th toe An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022085 hp.json Bullet-shaped outermost bone of the little toe|Bullet-shaped outermost bone of the pinky toe|Bullet-shaped outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100442 HP:0100443 biolink:PhenotypicFeature Curved middle phalanx of the 3rd toe A deviation from the normal straight form of the middle phalanx of the third toe. UMLS:C4022084 hp.json Curved middle bone of 3rd toe http://purl.obolibrary.org/obo/HP_0100443 HP:0100440 biolink:PhenotypicFeature Bullet-shaped distal phalanx of the 3rd toe An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022087 hp.json Bullet-shaped outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100440 HP:0100441 biolink:PhenotypicFeature Bullet-shaped distal phalanx of the 4th toe An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022086 hp.json Bullet-shaped outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100441 HP:0100448 biolink:PhenotypicFeature Curved proximal phalanx of the 5th toe A deviation from the normal straight form of the proximal phalanx of the fifth toe. UMLS:C4022079 hp.json Curved innermost little toe bone|Curved innermost pinky toe bone|Curved innermost pinkie toe bone http://purl.obolibrary.org/obo/HP_0100448 HP:0100449 biolink:PhenotypicFeature Curved distal phalanx of the 3rd toe A deviation from the normal straight form of the distal phalanx of the third toe. UMLS:C4022078 hp.json Curved outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100449 HP:0100457 biolink:PhenotypicFeature Osteolytic defects of the proximal phalanx of the 5th toe UMLS:C4022070 hp.json http://purl.obolibrary.org/obo/HP_0100457 HP:0100458 biolink:PhenotypicFeature Osteolytic defects of the distal phalanx of the 3rd toe UMLS:C4022069 hp.json Osteolytic defects of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100458 HP:0100455 biolink:PhenotypicFeature Osteolytic defects of the proximal phalanx of the 3rd toe UMLS:C4022072 hp.json http://purl.obolibrary.org/obo/HP_0100455 HP:0100456 biolink:PhenotypicFeature Osteolytic defects of the proximal phalanx of the 4th toe UMLS:C4022071 hp.json http://purl.obolibrary.org/obo/HP_0100456 HP:0100453 biolink:PhenotypicFeature Osteolytic defects of the middle phalanx of the 4th toe UMLS:C4022074 hp.json http://purl.obolibrary.org/obo/HP_0100453 HP:0100454 biolink:PhenotypicFeature Osteolytic defects of the middle phalanx of the 5th toe UMLS:C4022073 hp.json http://purl.obolibrary.org/obo/HP_0100454 HP:0100451 biolink:PhenotypicFeature Curved distal phalanx of the 5th toe A deviation from the normal straight form of the distal phalanx of the fifth toe. UMLS:C4022076 hp.json Curved outermost bone of the little toe|Curved outermost bone of the pinkie toe|Curved outermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100451 HP:0100452 biolink:PhenotypicFeature Osteolytic defects of the middle phalanx of the 3rd toe UMLS:C4022075 hp.json http://purl.obolibrary.org/obo/HP_0100452 HP:0100450 biolink:PhenotypicFeature Curved distal phalanx of the 4th toe A deviation from the normal straight form of the distal phalanx of the fourth toe. UMLS:C4022077 hp.json Curved outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100450 HP:0100459 biolink:PhenotypicFeature Osteolytic defects of the distal phalanx of the 4th toe UMLS:C4022068 hp.json Osteolytic defects of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100459 HP:0100468 biolink:PhenotypicFeature Patchy sclerosis of the distal phalanx of the 4th toe Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022059 hp.json Uneven increase in bone density in the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100468 HP:0100469 biolink:PhenotypicFeature Patchy sclerosis of the distal phalanx of the 5th toe Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022058 hp.json Uneven increase in bone density in the outermost pinky toe bone|Uneven increase in bone density in the outermost pinkie toe bone|Uneven increase in bone density in the outermost little toe bone http://purl.obolibrary.org/obo/HP_0100469 HP:0100466 biolink:PhenotypicFeature Patchy sclerosis of the proximal phalanx of the 5th toe Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022061 hp.json Uneven increase in bone density in the innermost bone of the pinkie toe|Uneven increase in bone density in the innermost bone of the pinky toe|Uneven increase in bone density in the innermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100466 HP:0100467 biolink:PhenotypicFeature Patchy sclerosis of the distal phalanx of the 3rd toe UMLS:C4022060 hp.json Uneven increase in bone density in the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100467 HP:0100464 biolink:PhenotypicFeature Patchy sclerosis of the proximal phalanx of the 3rd toe UMLS:C4022063 hp.json Uneven increase in bone density in the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100464 HP:0100465 biolink:PhenotypicFeature Patchy sclerosis of the proximal phalanx of the 4th toe Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022062 hp.json Uneven increase in bone density in the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100465 HP:0100462 biolink:PhenotypicFeature Patchy sclerosis of the middle phalanx of the 4th toe Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022065 hp.json Uneven increase in bone density in middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100462 HP:0100463 biolink:PhenotypicFeature Patchy sclerosis of the middle phalanx of the 5th toe Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022064 hp.json Uneven increase in bone density in the middle bone of the little toe|Uneven increase in bone density in the middle bone of the pinky toe|Uneven increase in bone density in the middle bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100463 HP:0100460 biolink:PhenotypicFeature Osteolytic defects of the distal phalanx of the 5th toe UMLS:C4022067 hp.json Osteolytic defects of the outermost bone of the 5th toe http://purl.obolibrary.org/obo/HP_0100460 HP:0100461 biolink:PhenotypicFeature Patchy sclerosis of the middle phalanx of the 3rd toe UMLS:C4022066 hp.json Uneven increase in bone density in the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100461 GO:0007498 biolink:BiologicalProcess mesoderm development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. hp.json http://purl.obolibrary.org/obo/GO_0007498 goslim_drosophila CHEBI:67079 biolink:ChemicalSubstance anti-inflammatory agent Any compound that has anti-inflammatory effects. hp.json anti-inflammatory agents|antiinflammatory agent|antiinflammatory agents http://purl.obolibrary.org/obo/CHEBI_67079 3_STAR GO:0007494 biolink:BiologicalProcess midgut development The process whose specific outcome is the progression of the midgut over time, from its formation to the mature structure. The midgut is the middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine. hp.json http://purl.obolibrary.org/obo/GO_0007494 GO:0044403 biolink:BiologicalProcess biological process involved in symbiotic interaction A process carried out by gene products in an organism that enable the organism to engage in a symbiotic relationship, a more or less intimate association, with another organism. The various forms of symbiosis include parasitism, in which the association is disadvantageous or destructive to one of the organisms; mutualism, in which the association is advantageous, or often necessary to one or both and not harmful to either; and commensalism, in which one member of the association benefits while the other is not affected. However, mutualism, parasitism, and commensalism are often not discrete categories of interactions and should rather be perceived as a continuum of interaction ranging from parasitism to mutualism. In fact, the direction of a symbiotic interaction can change during the lifetime of the symbionts due to developmental changes as well as changes in the biotic/abiotic environment in which the interaction occurs. Microscopic symbionts are often referred to as endosymbionts. hp.json symbiosis|symbiotic process|symbiotic interaction between host and organism|symbiosis, encompassing mutualism through parasitism|symbiotic interaction between organisms|host-pathogen interaction|commensalism|symbiotic interaction between species|parasitism|symbiotic interaction http://purl.obolibrary.org/obo/GO_0044403 goslim_chembl HP:0100477 biolink:PhenotypicFeature Symphalangism affecting the distal phalanx of the 4th toe UMLS:C4022050 hp.json Fused outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100477 HP:0100478 biolink:PhenotypicFeature Symphalangism affecting the distal phalanx of the 5th toe UMLS:C4022049 hp.json Fused outermost bones of the little toe|Fused outermost bones of the pinky toe|Fused outermost bones of the pinkie toe http://purl.obolibrary.org/obo/HP_0100478 HP:0100475 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanx of the 5th toe UMLS:C4022052 hp.json Fused innermost bone of pinkie toe|Fused innermost bone of pinky toe|Fused innermost bone of little toe http://purl.obolibrary.org/obo/HP_0100475 HP:0100476 biolink:PhenotypicFeature Symphalangism affecting the distal phalanx of the 3rd toe UMLS:C4022051 hp.json Fused outermost bone of 3rd toe http://purl.obolibrary.org/obo/HP_0100476 HP:0100473 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanx of the 3rd toe UMLS:C4022054 hp.json Fused innermost bone of 3rd toe http://purl.obolibrary.org/obo/HP_0100473 HP:0100474 biolink:PhenotypicFeature Symphalangism affecting the proximal phalanx of the 4th toe UMLS:C4022053 hp.json Fused innermost bones of 4th toe http://purl.obolibrary.org/obo/HP_0100474 HP:0100471 biolink:PhenotypicFeature Symphalangism affecting the middle phalanx of the 4th toe UMLS:C4022056 hp.json Fused middle bones of 4th toe http://purl.obolibrary.org/obo/HP_0100471 HP:0100472 biolink:PhenotypicFeature Symphalangism affecting the middle phalanx of the 5th toe UMLS:C4022055 hp.json Fused middle bones of 5th toe http://purl.obolibrary.org/obo/HP_0100472 HP:0100470 biolink:PhenotypicFeature Symphalangism affecting the middle phalanx of the 3rd toe UMLS:C4022057 hp.json Fused middle bones of 3rd toe http://purl.obolibrary.org/obo/HP_0100470 GO:0044419 biolink:BiologicalProcess biological process involved in interspecies interaction between organisms Any process evolved to enable an interaction with an organism of a different species. hp.json interspecies interaction with other organisms|interaction with another species|interspecies interaction|interspecies interaction between organisms http://purl.obolibrary.org/obo/GO_0044419 gocheck_do_not_annotate|goslim_pir|goslim_candida NBO:0000616 biolink:NamedThing eye contact "A nonverbal communication behavior that is characterised by the meeting the eyes between two individuals." [wikipedia:Eye_contact] hp.json http://purl.obolibrary.org/obo/NBO_0000616 NBO:0000613 biolink:NamedThing nonverbal communication behavior "Communication behavior related to the process of conveying meaning in the form of non-word messages through for example gesture, body language or posture; facial expression and eye contact etc." [wikipedia:.wikipedia.org/wiki/Nonverbal_communication] hp.json non-verbal communication behaviour|nonverbal communication behaviour http://purl.obolibrary.org/obo/NBO_0000613 CHEBI:57606 biolink:ChemicalSubstance 5-oxoprolinate The conjugate base of 5-oxoproline. Gmelin:327019|Beilstein:4135383 hp.json 5-oxoproline|Pyroglutamate|5-oxopyrrolidine-2-carboxylate|5-oxopyrrolidine-2-carboxylate|5-oxoprolinate anion http://purl.obolibrary.org/obo/CHEBI_57606 3_STAR UBERON:0016480 biolink:AnatomicalEntity interlobular stroma of liver FMA:17525 hp.json http://purl.obolibrary.org/obo/UBERON_0016480 pheno_slim NBO:0000612 biolink:NamedThing communication behavior "A social behavior related to the activity of conveying information." [wikipedia:Communication] hp.json communicating|signal exchange http://purl.obolibrary.org/obo/NBO_0000612 UBERON:0016481 biolink:AnatomicalEntity bronchial lymph node A lymph node that is part of a bronchus. NCIT:C32232|MA:0003078 hp.json http://purl.obolibrary.org/obo/UBERON_0016481 CHEBI:33635 biolink:ChemicalSubstance polycyclic compound hp.json polycyclic compounds http://purl.obolibrary.org/obo/CHEBI_33635 3_STAR CHEBI:33636 biolink:ChemicalSubstance bicyclic compound A molecule that features two fused rings. hp.json bicyclic compounds http://purl.obolibrary.org/obo/CHEBI_33636 3_STAR NBO:0000617 biolink:NamedThing laughing behavior hp.json http://purl.obolibrary.org/obo/NBO_0000617 HP:0004554 biolink:PhenotypicFeature Generalized hypertrichosis Generalized excessive, abnormal hairiness. UMLS:C3277940 hp.json Generalised hypertrichosis http://purl.obolibrary.org/obo/HP_0004554 HP:0004558 biolink:PhenotypicFeature Cervical platyspondyly A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. UMLS:C1856641 hp.json Flattened cervical vertebral bodies http://purl.obolibrary.org/obo/HP_0004558 HP:0004557 biolink:PhenotypicFeature Anterior vertebral fusion UMLS:C1969393 hp.json http://purl.obolibrary.org/obo/HP_0004557 HP:0004552 biolink:PhenotypicFeature Scarring alopecia of scalp UMLS:C3806301 hp.json Hair loss on scalp from scarring condition|Cicatricial alopecia http://purl.obolibrary.org/obo/HP_0004552 UBERON:0016475 biolink:AnatomicalEntity skin of forehead A zone of skin that is part of a forehead. EMAPA:37952|FMA:63883 hp.json forehead skin http://purl.obolibrary.org/obo/UBERON_0016475 pheno_slim NBO:0000623 biolink:NamedThing echolalia "Stereotypic behavior characterised by a tendency to repeat vocalizations." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000623 CHEBI:21663 biolink:ChemicalSubstance N-acylneuraminates hp.json N-acylneuraminate http://purl.obolibrary.org/obo/CHEBI_21663 3_STAR NBO:0000621 biolink:NamedThing selective mutism "A communication disorder in which a person, most often a child, who is normally capable of speech is unable to speak in given situations, or to specific people." [wikipedia:Selective_mutism] hp.json http://purl.obolibrary.org/obo/NBO_0000621 NBO:0000620 biolink:NamedThing frustration behavior "An emotional behavior that arises from the perceived resistance to the fulfillment of individual will." [wikipedia:Frustration] hp.json http://purl.obolibrary.org/obo/NBO_0000620 UBERON:0016476 biolink:AnatomicalEntity primary incisor tooth An incisor tooth that is part of a primary dentition. FMA:84200 hp.json deciduous incisor tooth|temporary incisor tooth http://purl.obolibrary.org/obo/UBERON_0016476 pheno_slim UBERON:0016479 biolink:AnatomicalEntity capsule of liver A collagenous capsule covering the external surface of the liver. FMA:15813 hp.json hepatic capsule|glisson's capsule|fibrous capsule of Glisson|liver capsule|tunica fibrosa hepatis|tunica fibrosa (hepar)|capsula fibrosa perivascularis|fibrous capsule of liver http://purl.obolibrary.org/obo/UBERON_0016479 UBERON:0016478 biolink:AnatomicalEntity liver stroma A stroma that is part of a liver. FMA:17553 hp.json hepatic stroma|stroma of liver http://purl.obolibrary.org/obo/UBERON_0016478 human_reference_atlas UBERON:0004495 biolink:AnatomicalEntity skeletal muscle tissue of diaphragm A portion of skeletal muscle tissue that is part of a diaphragm [Automatically generated definition]. FMA:261898 hp.json http://purl.obolibrary.org/obo/UBERON_0004495 OBO:pr#has_gene_template biolink:Protein has_gene_template hp.json http://purl.obolibrary.org/obo/pr#has_gene_template HP:0004566 biolink:PhenotypicFeature Pear-shaped vertebrae Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. UMLS:C1866731 hp.json Pear-shaped vertebral bodies http://purl.obolibrary.org/obo/HP_0004566 UBERON:0004493 biolink:AnatomicalEntity cardiac muscle tissue of myocardium A portion of cardiac muscle tissue that is part of a myocardium [Automatically generated definition]. EMAPA:32688|FMA:261726|MA:0002441 hp.json http://purl.obolibrary.org/obo/UBERON_0004493 pheno_slim HP:0004565 biolink:PhenotypicFeature Severe platyspondyly UMLS:C1850293 hp.json platyspondyly, extreme http://purl.obolibrary.org/obo/HP_0004565 UBERON:0004491 biolink:AnatomicalEntity cardiac muscle tissue of interatrial septum A portion of cardiac muscle tissue that is part of a interatrial septum [Automatically generated definition]. FMA:84083 hp.json interatrial septum myocardium|interatrial septum myocardium|interatrial septum heart muscle|interatrial septum heart muscle|interatrial septum cardiac muscle tissue|interatrial septum cardiac muscle tissue|interatrial septum muscle|interatrial septum muscle http://purl.obolibrary.org/obo/UBERON_0004491 UBERON:0004492 biolink:AnatomicalEntity cardiac muscle tissue of cardiac septum A portion of cardiac muscle tissue that is part of a cardiac septum [Automatically generated definition]. FMA:226279 hp.json cardiac septum cardiac muscle tissue|cardiac septum cardiac muscle tissue|cardiac septum muscle|cardiac septum muscle|cardiac septum myocardium|cardiac septum myocardium|cardiac septum heart muscle|cardiac septum heart muscle http://purl.obolibrary.org/obo/UBERON_0004492 HP:0004568 biolink:PhenotypicFeature Beaking of vertebral bodies Anterior tongue-like protrusions of the vertebral bodies. SNOMEDCT_US:19888007|UMLS:C0264112|UMLS:C1856599 hp.json Anterior beaking of vertebrae|Vertebral tongue-like protrusion|anterior beaking|Anterior beaking of vertebral bodies|Beaked vertebral bodies http://purl.obolibrary.org/obo/HP_0004568 hposlim_core UBERON:0004490 biolink:AnatomicalEntity cardiac muscle tissue of atrium A portion of cardiac muscle tissue that is part of an atrium [Automatically generated definition]. FMA:7283 hp.json cardiac atrium muscle|atrial heart muscle|atrial cardiac muscle tissue|atrial myocardium http://purl.obolibrary.org/obo/UBERON_0004490 HP:0004563 biolink:PhenotypicFeature Increased spinal bone density Increased bone density affecting the bones of the spine (vertebral column). UMLS:C4020828|UMLS:C4280515|UMLS:C4280514|UMLS:C4280513|UMLS:C4280254 hp.json Compact spinal bone|Concrete spinal bone|Sclerosis of spinal bone|Increased density of spinal bone|Increased spinal bone density Z-score|Ivory spinal bone|Dense spinal bone|Eburnation of spinal bone http://purl.obolibrary.org/obo/HP_0004563 UBERON:0004499 biolink:AnatomicalEntity skeletal muscle tissue of tibialis anterior A portion of skeletal muscle tissue that is part of a tibialis anterior [Automatically generated definition]. FMA:262004 hp.json http://purl.obolibrary.org/obo/UBERON_0004499 HP:0004562 biolink:PhenotypicFeature Beaking of vertebral bodies T12-L3 UMLS:C1854941 hp.json http://purl.obolibrary.org/obo/HP_0004562 UBERON:0004498 biolink:AnatomicalEntity skeletal muscle tissue of quadriceps femoris A portion of skeletal muscle tissue that is part of a quadriceps femoris [Automatically generated definition]. FMA:261998 hp.json http://purl.obolibrary.org/obo/UBERON_0004498 UBERON:0016462 biolink:AnatomicalEntity periorbital skin A zone of skin in the periorbital region of the face. FMA:59350|EMAPA:37937 hp.json skin of orbital part of face http://purl.obolibrary.org/obo/UBERON_0016462 pheno_slim UBERON:0016464 biolink:AnatomicalEntity dorsum of nose The midline prominence of the nose, extending from the nasal root to the tip. FMA:59517 hp.json nasal ridge|nasal dorsum http://purl.obolibrary.org/obo/UBERON_0016464 pheno_slim UBERON:0016466 biolink:AnatomicalEntity antihelix On the pinna, a curved prominence of cartilage, parallel with and in front of the helix, is called the antihelix, also known as the anthelix; this divides above into two crura, the crura antihelicis, between which is a triangular depression, the fossa triangularis. FMA:60995|NCIT:C32120 hp.json antihelix (auricula)|antihelix of pinna|antihelical part of pinna|anthelix http://purl.obolibrary.org/obo/UBERON_0016466 pheno_slim UBERON:0016467 biolink:AnatomicalEntity antitragus The antitragus is a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch. NCIT:C32121|FMA:61001 hp.json antitragal part of pinna http://purl.obolibrary.org/obo/UBERON_0016467 pheno_slim UBERON:0004482 biolink:AnatomicalEntity musculature of lower limb Any collection of muscles that is part of a hindlimb [Automatically generated definition]. FMA:50399 hp.json muscle group of free lower limb|free lower limb musculature|musculature of free lower limb|set of muscles of free lower limb http://purl.obolibrary.org/obo/UBERON_0004482 pheno_slim HP:0004532 biolink:PhenotypicFeature Sacral hypertrichosis Excessive, increased hair growth located in the sacral region. UMLS:C4025313 hp.json http://purl.obolibrary.org/obo/HP_0004532 UBERON:0004480 biolink:AnatomicalEntity musculature of limb Any collection of muscles that is part of a limb [Automatically generated definition]. EMAPA:32700|FMA:50188|EHDAA2:0000995 hp.json muscle group of limb|limb muscle system|limb musculature|set of muscles of limb http://purl.obolibrary.org/obo/UBERON_0004480 pheno_slim UBERON:0004481 biolink:AnatomicalEntity musculature of upper limb Any collection of muscles that is part of a forelimb [Automatically generated definition]. FMA:50396 hp.json muscle group of free upper limb|free upper limb musculature|musculature of free upper limb|set of muscles of free upper limb http://purl.obolibrary.org/obo/UBERON_0004481 pheno_slim HP:0004535 biolink:PhenotypicFeature Anterior cervical hypertrichosis Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. UMLS:C1838123|MSH:C538390 hp.json Hypertrichosis, congenital anterior cervical|Congenital cervical hypertrichosis http://purl.obolibrary.org/obo/HP_0004535 UBERON:0004488 biolink:AnatomicalEntity musculature of pes Any collection of muscles that is part of a foot [Automatically generated definition]. FMA:50214 hp.json foot musculature|set of muscles of foot|musculature of foot|muscle group of foot http://purl.obolibrary.org/obo/UBERON_0004488 pheno_slim UBERON:0004489 biolink:AnatomicalEntity musculature of manus Any collection of muscles that is part of a manus [Automatically generated definition]. FMA:42368 hp.json set of muscles of hand|musculature of hand|muscle group of hand|hand musculature http://purl.obolibrary.org/obo/UBERON_0004489 pheno_slim UBERON:0004486 biolink:AnatomicalEntity musculature of perineum Any collection of muscles that is part of a perineum [Automatically generated definition]. EMAPA:36629|FMA:71295 hp.json set of perineal muscles|musculi perinei|perineal muscles set|perineal muscles http://purl.obolibrary.org/obo/UBERON_0004486 UBERON:0004487 biolink:AnatomicalEntity musculature of forelimb zeugopod Any collection of muscles that is part of a lower arm [Automatically generated definition]. FMA:39089 hp.json musculature of forearm|set of muscles of forearm|muscle group of forearm http://purl.obolibrary.org/obo/UBERON_0004487 NBO:0000605 biolink:NamedThing sexual inhibition "A social behavior characterised by conscious or unconscious constraint or curtailment of behavior relating to specific sexual matters or practices." [wikipedia:Sexual_inhibition] hp.json http://purl.obolibrary.org/obo/NBO_0000605 NBO:0000604 biolink:NamedThing social inhibition "A social behavior characterised by conscious or unconscious constraint of a behavior that might be considered objectionable in a social setting." [wikipedia:Social_inhibition] hp.json http://purl.obolibrary.org/obo/NBO_0000604 UBERON:0016453 biolink:AnatomicalEntity lower secondary premolar tooth FMA:55717 hp.json lower permanent premolar tooth|mandibular secondary premolar tooth|permanent lower premolar tooth http://purl.obolibrary.org/obo/UBERON_0016453 pheno_slim NBO:0000603 biolink:NamedThing delusion "A belief that is either mistaken or not substantiated that is held with vehemence." [wikipedia:Delusion] hp.json http://purl.obolibrary.org/obo/NBO_0000603 UBERON:0016452 biolink:AnatomicalEntity upper secondary premolar tooth FMA:55716 hp.json secondary upper premolar tooth|upper permanent premolar tooth|permanent upper premolar tooth|maxillary secondary premolar tooth http://purl.obolibrary.org/obo/UBERON_0016452 pheno_slim NBO:0000602 biolink:NamedThing apathy "Exhibiting indifference, or suppression of emotions such as concern, excitement, motivation and passion." [wikipedia:Indifference_(emotion)] hp.json impassivity|perfunctoriness http://purl.obolibrary.org/obo/NBO_0000602 NBO:0000601 biolink:NamedThing emotional behavior phenotype "Observable characteristic of behavior related to the complex psychophysiological experience of an individual's state of mind as interacting with biochemical (internal) and environmental (external) influences." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000601 CHEBI:21644 biolink:ChemicalSubstance N-acyl-L-amino acid Any N-acylamino acid having L-configuration. hp.json http://purl.obolibrary.org/obo/CHEBI_21644 3_STAR UBERON:0016459 biolink:AnatomicalEntity posterior pole of lens The central point on the posterior surface of the lens. NCIT:C33375|FMA:58898 hp.json polus posterior (lens)|polus posterior lentis http://purl.obolibrary.org/obo/UBERON_0016459 pheno_slim UBERON:0016458 biolink:AnatomicalEntity esophageal hiatus A hole in the diaphragm through which the esophagus passes. FMA:58289 hp.json esophageal hiatus of diaphragm|oesophageal hiatus|oesophageal aperture http://purl.obolibrary.org/obo/UBERON_0016458 pheno_slim UBERON:0016455 biolink:AnatomicalEntity upper lateral secondary incisor tooth FMA:55724 hp.json maxillary lateral secondary incisor tooth|upper lateral permanent incisor tooth http://purl.obolibrary.org/obo/UBERON_0016455 pheno_slim NBO:0000608 biolink:NamedThing hallucination "Perception in the absence of a stimulus." [wikipedia:Hallucination] hp.json http://purl.obolibrary.org/obo/NBO_0000608 UBERON:0016454 biolink:AnatomicalEntity upper central secondary incisor tooth FMA:55722 hp.json permanent upper central incisor tooth|maxillary central secondary incisor tooth|maxillary central permanent incisor tooth|upper central permanent incisor tooth http://purl.obolibrary.org/obo/UBERON_0016454 pheno_slim NBO:0000607 biolink:NamedThing cognitive behavior "Behaviour related to cognitive processes." [NBO:JH] hp.json http://purl.obolibrary.org/obo/NBO_0000607 NBO:0000606 biolink:NamedThing forgetfulness "Loss of information already encoded and stored in an individual's long term memory." [wikipedia:Forgetting] hp.json retention loss|pathological forgetting http://purl.obolibrary.org/obo/NBO_0000606 UBERON:0004473 biolink:AnatomicalEntity musculature of face Any collection of muscles that is part of a face. FMA:71288 hp.json musculi faciei|entire facial musculature|facial muscles|entire facial musculature|set of muscles of face|muscle group of face|set of facial muscles http://purl.obolibrary.org/obo/UBERON_0004473 pheno_slim UBERON:0004474 biolink:AnatomicalEntity musculature of arm Any collection of muscles that is part of an arm [Automatically generated definition]. EHDAA2:0000141 hp.json muscle group of arm|arm musculature|arm muscle system|set of muscles of arm http://purl.obolibrary.org/obo/UBERON_0004474 pheno_slim HP:0004544 biolink:PhenotypicFeature obsolete Pointed frontal hairline hp.json http://purl.obolibrary.org/obo/HP_0004544 UBERON:0004471 biolink:AnatomicalEntity musculature of pectoral girdle A subdivision of the musculature of the body in the pectoral girdle region. Includes pectoral and shoulder muscles. AAO:0000423|FMA:33519|EMAPA:37857 hp.json muscle group of pectoral girdle|pectoral girdle musculature|pectoral girdle muscles|set of muscles of pectoral girdle http://purl.obolibrary.org/obo/UBERON_0004471 pheno_slim GO:0140353 biolink:BiologicalProcess lipid export from cell The directed movement of a lipid from a cell, into the extracellular region. hp.json lipid efflux http://purl.obolibrary.org/obo/GO_0140353 UBERON:0004470 biolink:AnatomicalEntity musculature of pelvic girdle Any collection of muscles that is part of a pelvic girdle [Automatically generated definition]. EMAPA:18184|EHDAA2:0001429|AAO:0000427|FMA:50205|FMA:50248 hp.json set of muscles of pelvis|set of muscles of pelvic girdle|pelvic girdle muscles|muscle group of pelvis|muscular system of pelvis|pelvic girdle muscle system|muscle group of pelvic girdle|pelvic girdle musculature http://purl.obolibrary.org/obo/UBERON_0004470 pheno_slim GO:0140352 biolink:BiologicalProcess export from cell The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. hp.json efflux http://purl.obolibrary.org/obo/GO_0140352 GO:0140354 biolink:BiologicalProcess lipid import into cell The directed movement of a lipid from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. hp.json lipid uptake http://purl.obolibrary.org/obo/GO_0140354 UBERON:0004479 biolink:AnatomicalEntity musculature of trunk Any collection of muscles that is part of a trunk [Automatically generated definition]. AAO:0011572|FMA:50187|EFO:0003531 hp.json muscle group of trunk|muscular system of trunk|set of muscles of trunk http://purl.obolibrary.org/obo/UBERON_0004479 pheno_slim|efo_slim HP:0004540 biolink:PhenotypicFeature Congenital, generalized hypertrichosis A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. UMLS:C1855900|MSH:C538388 hp.json Congenital generalised hypertrichosis|Congenital, generalised hypertrichosis|Hypertrichosis universalis|Congenital generalized hypertrichosis http://purl.obolibrary.org/obo/HP_0004540 UBERON:0004478 biolink:AnatomicalEntity musculature of larynx The collection of muscles that are part of the larynx. Wikipedia:Muscles_of_larynx|FMA:46616|MESH:D007821|FMA:264611 hp.json set of laryngeal muscles|muscle group of larynx|laryngeal muscles set|laryngeal muscles|set of muscles of larynx http://purl.obolibrary.org/obo/UBERON_0004478 UBERON:0004475 biolink:AnatomicalEntity musculature of hip The collection of muscles that form attachments to the hip skeleton. FMA:50227 hp.json muscle group of hip|hip musculature|set of muscles of hip http://purl.obolibrary.org/obo/UBERON_0004475 pheno_slim UBERON:0004476 biolink:AnatomicalEntity musculature of shoulder The collection of muscles that form attachments to the shoulder skeleton. FMA:50220 hp.json set of muscles of shoulder|muscle group of shoulder http://purl.obolibrary.org/obo/UBERON_0004476 pheno_slim PR:P00797 biolink:Protein renin (human) A renin that is encoded in the genome of human. UniProtKB:P00797 hp.json angiotensinogenase (human)|REN|hREN http://purl.obolibrary.org/obo/PR_P00797 NBO:0000656 biolink:NamedThing somatic sensation related behavior phenotype "A phenotype manifested by a behavior related to the sensations arising from the skin and from the muscles, tendons, and joints." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000656 NBO:0000655 biolink:NamedThing sensation behavior phenotype "Observable characteristic of behavior related any of the five senses -- vision, touch, smell, taste, and hearing." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000655 HP:0004599 biolink:PhenotypicFeature Absent or minimally ossified vertebral bodies UMLS:C1832983 hp.json http://purl.obolibrary.org/obo/HP_0004599 HP:0004598 biolink:PhenotypicFeature Supernumerary vertebral ossification centers Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. UMLS:C4025309 hp.json Supernumerary vertebral ossification centres http://purl.obolibrary.org/obo/HP_0004598 HP:0004592 biolink:PhenotypicFeature Thoracic platyspondyly A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. UMLS:C1862428 hp.json http://purl.obolibrary.org/obo/HP_0004592 HP:0004591 biolink:PhenotypicFeature Disc-like vertebral bodies UMLS:C1835444 hp.json http://purl.obolibrary.org/obo/HP_0004591 HP:0004590 biolink:PhenotypicFeature Hypoplastic sacrum UMLS:C1970816 hp.json Small sacrum http://purl.obolibrary.org/obo/HP_0004590 PATO:0002182 biolink:NamedThing molecular quality A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. hp.json relational molecular quality http://purl.obolibrary.org/obo/PATO_0002182 CHEBI:21619 biolink:ChemicalSubstance N-acetylneuraminates hp.json N-acetylneuraminate http://purl.obolibrary.org/obo/CHEBI_21619 3_STAR HP:0004594 biolink:PhenotypicFeature Hump-shaped mound of bone in central and posterior portions of vertebral endplate UMLS:C1839252 hp.json http://purl.obolibrary.org/obo/HP_0004594 PATO:0002180 biolink:NamedThing straight A shape quality inhering in a bearer by virtue of the bearer's being free of curves, bends, or angles. hp.json http://purl.obolibrary.org/obo/PATO_0002180 value_slim PATO:0002181 biolink:NamedThing displaced A positional quality inhering in a bearer by virtue the bearer's being changed in position. hp.json http://purl.obolibrary.org/obo/PATO_0002181 attribute_slim CHEBI:21622 biolink:ChemicalSubstance N-acetylneuraminic acids hp.json http://purl.obolibrary.org/obo/CHEBI_21622 3_STAR CHEBI:33608 biolink:ChemicalSubstance hydrogen molecular entity hp.json hydrogen compounds|hydrogen molecular entities http://purl.obolibrary.org/obo/CHEBI_33608 3_STAR PATO:0002198 biolink:NamedThing quality of a substance A quality inhering in a bearer by virtue of its constitution. hp.json http://purl.obolibrary.org/obo/PATO_0002198 attribute_slim HP:0100501 biolink:PhenotypicFeature Recurrent bronchiolitis An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis. UMLS:C4015136 hp.json http://purl.obolibrary.org/obo/HP_0100501 HP:0100502 biolink:PhenotypicFeature Vitamin B12 deficiency MSH:D014806|UMLS:C0042847|SNOMEDCT_US:190634004 hp.json Vitamin B12 deficiency http://purl.obolibrary.org/obo/HP_0100502 HP:0100500 biolink:PhenotypicFeature Fibular deviation of toes UMLS:C4020970 hp.json Lateral deviation of toes http://purl.obolibrary.org/obo/HP_0100500 HP:0004576 biolink:PhenotypicFeature Sclerotic vertebral endplates Sclerosis (increased density) affecting vertebral end plates. UMLS:C1859698 hp.json Endplate sclerosis http://purl.obolibrary.org/obo/HP_0004576 HP:0004575 biolink:PhenotypicFeature Fusion of midcervical facet joints UMLS:C1847394 hp.json http://purl.obolibrary.org/obo/HP_0004575 HP:0100509 biolink:PhenotypicFeature Abnormality of vitamin C metabolism UMLS:C4021863 hp.json Abnormality of vitamin C metabolism http://purl.obolibrary.org/obo/HP_0100509 HP:0004570 biolink:PhenotypicFeature Increased vertebral height Increased top to bottom height of vertebral bodies. UMLS:C1864853 hp.json Tall vertebral bodies http://purl.obolibrary.org/obo/HP_0004570 HP:0100507 biolink:PhenotypicFeature Reduced blood folate concentration A reduced circulating concentration of folic acid, which is also known as vitamin B9. UMLS:C0016412|MSH:D005494|SNOMEDCT_US:190633005 hp.json Vitamin B9 deficiency|Folate deficiency http://purl.obolibrary.org/obo/HP_0100507 HP:0100508 biolink:PhenotypicFeature Abnormality of vitamin metabolism An anomaly in the metabolism of a vitamin. UMLS:C4022036 hp.json Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0100508 HP:0100505 biolink:PhenotypicFeature Low levels of vitamin B5 A reduced concentration of vitamin B5. UMLS:C4022038 hp.json Vitamin B5 deficiency http://purl.obolibrary.org/obo/HP_0100505 HP:0004573 biolink:PhenotypicFeature Anterior wedging of T11 An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). UMLS:C4021652 hp.json Anterior wedging of the 11th thoracic vertebra|Wedge-shaped 11th thoracic vertebra http://purl.obolibrary.org/obo/HP_0004573 HP:0100506 biolink:PhenotypicFeature Low levels of vitamin B8 A reduced concentration of vitamin B8. UMLS:C4022037 hp.json Vitamin B8 deficiency http://purl.obolibrary.org/obo/HP_0100506 HP:0100503 biolink:PhenotypicFeature Low levels of vitamin B1 A reduced concentration of vitamin B1. UMLS:C0039841|SNOMEDCT_US:399357009|MSH:D013832 hp.json Vitamin B1 deficiency|Reduced blood thiamine level http://purl.obolibrary.org/obo/HP_0100503 HP:0004571 biolink:PhenotypicFeature Widening of cervical spinal canal UMLS:C3807591 hp.json http://purl.obolibrary.org/obo/HP_0004571 HP:0100504 biolink:PhenotypicFeature Low levels of vitamin B2 A reduced concentration of vitamin B2. UMLS:C0035528|MSH:D012257|SNOMEDCT_US:20307000 hp.json Riboflavin deficiency|Vitamin B2 deficiency http://purl.obolibrary.org/obo/HP_0100504 HP:0100512 biolink:PhenotypicFeature Low levels of vitamin D A reduced concentration of Vitamin D. SNOMEDCT_US:34713006|UMLS:C0042870|MSH:D014808 hp.json Deficient in vitamin D|Vitamin D deficiency http://purl.obolibrary.org/obo/HP_0100512 HP:0100513 biolink:PhenotypicFeature Low levels of vitamin E A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. MSH:D014811|UMLS:C0042875|SNOMEDCT_US:54137008 hp.json Alpha-tocopherol deficiency|Vitamin E deficiency http://purl.obolibrary.org/obo/HP_0100513 HP:0100510 biolink:PhenotypicFeature Low levels of vitamin C A reduced concentration of Vitamin C. MSH:D001206|SNOMEDCT_US:76169001|UMLS:C0003969 hp.json Vitamin C deficiency http://purl.obolibrary.org/obo/HP_0100510 HP:0100511 biolink:PhenotypicFeature Abnormality of vitamin D metabolism UMLS:C4022035 hp.json Abnormality of vitamin D metabolism http://purl.obolibrary.org/obo/HP_0100511 UBERON:0016491 biolink:AnatomicalEntity vertebral centrum element Skeletal element that functionally replaces the notochord[VSAP,modified]. VSAO:0000183 hp.json centrum|centrum of vertebra http://purl.obolibrary.org/obo/UBERON_0016491 UBERON:0016490 biolink:AnatomicalEntity auditory system Is the sensory system for the sense of hearing. FMA:7192|Wikipedia:Auditory_system|UMLS:C0587901|NCIT:C12889|EMAPA:36002|MA:0002443|NLXANAT:090817|OpenCyc:Mx4rvViwtJwpEbGdrcN5Y29ycA|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2888 hp.json http://purl.obolibrary.org/obo/UBERON_0016490 NBO:0000644 biolink:NamedThing voluntary movement behavior phenotype "Observable characteristic of behavior related to movements executed with intent." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000644 NBO:0000643 biolink:NamedThing involuntary movement behavior phenotype "Observable characteristic of behavior related to movements that occur independent of planning." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000643 OBO:chebi#is_enantiomer_of biolink:NamedThing is enantiomer of hp.json http://purl.obolibrary.org/obo/chebi#is_enantiomer_of HP:0004589 biolink:PhenotypicFeature Dysplasia of second lumbar vertebra UMLS:C4025310 hp.json http://purl.obolibrary.org/obo/HP_0004589 HP:0004586 biolink:PhenotypicFeature Biconcave vertebral bodies Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. UMLS:C1856087 hp.json Biconcave 'codfish' vertebrae|Scalloping of vertebral bodies|Codfish vertebrae|Fish vertebrae|Biconcave vertebrae http://purl.obolibrary.org/obo/HP_0004586 hposlim_core HP:0004581 biolink:PhenotypicFeature Increased anterior vertebral height UMLS:C1866732 hp.json http://purl.obolibrary.org/obo/HP_0004581 HP:0004580 biolink:PhenotypicFeature Anterior scalloping of vertebral bodies An excessive concavity of the anterior surface of one or more vertebral bodies. UMLS:C2673652 hp.json Anterior scalloping vertebral bodies http://purl.obolibrary.org/obo/HP_0004580 HP:0100518 biolink:PhenotypicFeature Dysuria Painful or difficult urination. MSH:D053159|UMLS:C0013428|SNOMEDCT_US:49650001 hp.json Dull burning sensation with urination|Painful or difficult urination http://purl.obolibrary.org/obo/HP_0100518 HP:0100519 biolink:PhenotypicFeature Anuria Absence of urine, clinically classified as below 50ml/day. UMLS:C0003460|SNOMEDCT_US:2472002|MSH:D001002 hp.json Absent urine output http://purl.obolibrary.org/obo/HP_0100519 HP:0100516 biolink:PhenotypicFeature Neoplasm of the ureter The presence of a neoplasm of the ureter. SNOMEDCT_US:126882009|UMLS:C0041955|NCIT:C3262|MSH:D014516|SNOMEDCT_US:363458004|UMLS:C0153619 hp.json ureter, cancer of|Neoplasia of the ureters http://purl.obolibrary.org/obo/HP_0100516 HP:0100517 biolink:PhenotypicFeature Neoplasm of the urethra The presence of a neoplasm of the urethra. SNOMEDCT_US:126883004|MSH:D014523|UMLS:C0041971|NCIT:C2974 hp.json Neoplasia of the urethra http://purl.obolibrary.org/obo/HP_0100517 HP:0100514 biolink:PhenotypicFeature Abnormality of vitamin E metabolism UMLS:C4022034 hp.json Abnormality of vitamin E metabolism http://purl.obolibrary.org/obo/HP_0100514 HP:0100515 biolink:PhenotypicFeature Pollakisuria Increased frequency of urination. SNOMEDCT_US:300471006|SNOMEDCT_US:162116003|UMLS:C0042023 hp.json Frequent urination|Constant urination http://purl.obolibrary.org/obo/HP_0100515 HP:0004582 biolink:PhenotypicFeature Irregularity of vertebral bodies UMLS:C4025311 hp.json http://purl.obolibrary.org/obo/HP_0004582 CHEBI:18085 biolink:ChemicalSubstance glycosaminoglycan Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Wikipedia:Glycosaminoglycan|KEGG:C02545 hp.json glycosaminoglycan|Glykosaminoglykan|Glycosaminoglycan|glycosaminoglycane|glycosaminoglycans|glicosaminoglicano http://purl.obolibrary.org/obo/CHEBI_18085 3_STAR GO:0044380 biolink:BiologicalProcess protein localization to cytoskeleton A process in which a protein is transported to, or maintained in, a location within the cytoskeleton. hp.json protein localisation to cytoskeleton http://purl.obolibrary.org/obo/GO_0044380 UBERON:0004419 biolink:AnatomicalEntity proximal epiphysis of phalanx of manual digit 3 A proximal epiphysis that is part of a manual digit 3 phalanx [Automatically generated definition]. FMA:37510 hp.json proximal epiphysis of phalanx of middle finger|base of phalanx of third finger|proximal epiphysis of phalanx of manual digit 3|basal epiphysis of phalanx of middle finger|base of phalanx of third digit of hand|base of phalanx of middle finger|proximal epiphysis of phalanx of manual digit III http://purl.obolibrary.org/obo/UBERON_0004419 UBERON:0004417 biolink:AnatomicalEntity proximal epiphysis of phalanx of manual digit 1 A proximal epiphysis that is part of a manual digit 1 phalanx [Automatically generated definition]. FMA:37489 hp.json basal epiphysis of phalanx of thumb|proximal epiphysis of phalanx of manual digit 1|base of phalanx of thumb|base of phalanx of first digit of hand|proximal epiphysis of phalanx of manual digit I|proximal epiphysis of phalanx of thumb http://purl.obolibrary.org/obo/UBERON_0004417 UBERON:0004418 biolink:AnatomicalEntity proximal epiphysis of phalanx of manual digit 2 A proximal epiphysis that is part of a manual digit 2 phalanx [Automatically generated definition]. FMA:37498 hp.json proximal epiphysis of phalanx of manual digit 2|basal epiphysis of phalanx of index finger|proximal epiphysis of phalanx of index finger|proximal epiphysis of phalanx of manual digit II|base of phalanx of second digit of hand|base of phalanx of index finger|base of phalanx of second finger http://purl.obolibrary.org/obo/UBERON_0004418 UBERON:0016404 biolink:AnatomicalEntity cervical vertebral arch joint A vertebral arch joint that is part of a cervical region of vertebral column. FMA:13668 hp.json cervical facet joint|zygapophyseal joint of cervical vertebrae|joint of cervical vertebral arch|joint of cervical vertebral articular process|zygapophysial joint of cervical vertebrae http://purl.obolibrary.org/obo/UBERON_0016404 pheno_slim UBERON:0016405 biolink:AnatomicalEntity pulmonary capillary A capillary that is part of a lung. FMA:14121 hp.json capillary of lung http://purl.obolibrary.org/obo/UBERON_0016405 pheno_slim|human_reference_atlas PATO:0002149 biolink:NamedThing ivory A quality inhering in a bearer by virtue of the bearer exhibiting increased density resulting in exhibiting increased degree of radiopacity (in X-rays). hp.json http://purl.obolibrary.org/obo/PATO_0002149 value_slim UBERON:0016400 biolink:AnatomicalEntity infrapatellar fat pad The infrapatellar fat pad, also known as Hoffa's fat pad, is a cylindrical piece of fat that is situated under and behind the patella bone within the knee. FMA:58772 hp.json http://purl.obolibrary.org/obo/UBERON_0016400 human_reference_atlas PATO:0002142 biolink:NamedThing bracket hp.json http://purl.obolibrary.org/obo/PATO_0002142 value_slim PATO:0002143 biolink:NamedThing sloped downward hp.json http://purl.obolibrary.org/obo/PATO_0002143 value_slim PATO:0002141 biolink:NamedThing irregular density A density quality which lacks pattern. hp.json http://purl.obolibrary.org/obo/PATO_0002141 value_slim UBERON:0004426 biolink:AnatomicalEntity proximal epiphysis of fifth metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 5 [Automatically generated definition]. FMA:42800 hp.json proximal epiphysis of metacarpal 5|base of fifth metacarpal bone|fifth metacarpal bone base|proximal end of fifth metacarpal bone http://purl.obolibrary.org/obo/UBERON_0004426 UBERON:0004427 biolink:AnatomicalEntity proximal epiphysis of first metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition]. FMA:42963 hp.json base of first metatarsal bone|proximal end of first metatarsal bone|proximal epiphysis of metatarsal 1 http://purl.obolibrary.org/obo/UBERON_0004427 UBERON:0004424 biolink:AnatomicalEntity proximal epiphysis of third metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 3 [Automatically generated definition]. FMA:42794 hp.json base of third metacarpal bone|third metacarpal bone base|proximal end of third metacarpal bone|proximal epiphysis of metacarpal 3 http://purl.obolibrary.org/obo/UBERON_0004424 UBERON:0004425 biolink:AnatomicalEntity proximal epiphysis of fourth metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 4 [Automatically generated definition]. FMA:42797 hp.json base of fourth metacarpal bone|proximal epiphysis of metacarpal 4|proximal end of fourth metacarpal bone|fourth metacarpal bone base http://purl.obolibrary.org/obo/UBERON_0004425 UBERON:0004422 biolink:AnatomicalEntity proximal epiphysis of first metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 1 [Automatically generated definition]. FMA:42788 hp.json first metacarpal bone base|proximal epiphysis of metacarpal 1|base of first metacarpal bone http://purl.obolibrary.org/obo/UBERON_0004422 UBERON:0004423 biolink:AnatomicalEntity proximal epiphysis of second metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 2 [Automatically generated definition]. FMA:42791 hp.json second metacarpal bone base|proximal end of second metacarpal bone|proximal epiphysis of metacarpal 2|base of second metacarpal bone http://purl.obolibrary.org/obo/UBERON_0004423 UBERON:0004420 biolink:AnatomicalEntity proximal epiphysis of phalanx of manual digit 4 A proximal epiphysis that is part of a manual digit 4 phalanx [Automatically generated definition]. FMA:37522 hp.json base of phalanx of ring finger|proximal epiphysis of phalanx of manual digit IV|proximal epiphysis of phalanx of ring finger|proximal epiphysis of phalanx of manual digit 4|basal epiphysis of phalanx of ring finger|base of phalanx of fourth finger|base of phalanx of fourth digit of hand http://purl.obolibrary.org/obo/UBERON_0004420 UBERON:0004421 biolink:AnatomicalEntity proximal epiphysis of phalanx of manual digit 5 A proximal epiphysis that is part of a manual digit 5 phalanx [Automatically generated definition]. FMA:37534 hp.json base of phalanx of fifth digit of hand|basal epiphysis of phalanx of little finger|basal epiphysis of phalanx of fifth finger|proximal epiphysis of phalanx of manual digit 5|base of phalanx of little finger|proximal epiphysis of phalanx of manual digit V|base of phalanx of fifth finger|proximal epiphysis of phalanx of little finger http://purl.obolibrary.org/obo/UBERON_0004421 GO:0007409 biolink:BiologicalProcess axonogenesis De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. hp.json axon growth|axon morphogenesis|neuron long process generation http://purl.obolibrary.org/obo/GO_0007409 GO:0007407 biolink:BiologicalProcess neuroblast activation A change in the morphology or behavior of a neuroblast resulting from exposure to an activating factor such as a cellular or soluble ligand. hp.json http://purl.obolibrary.org/obo/GO_0007407 GO:0007406 biolink:BiologicalProcess negative regulation of neuroblast proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of the proliferation of neuroblasts. hp.json down-regulation of neuroblast proliferation|suppression of neuroblast proliferation|downregulation of neuroblast proliferation|down regulation of neuroblast proliferation|inhibition of neuroblast proliferation http://purl.obolibrary.org/obo/GO_0007406 GO:0007405 biolink:BiologicalProcess neuroblast proliferation The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron. hp.json http://purl.obolibrary.org/obo/GO_0007405 UBERON:0004408 biolink:AnatomicalEntity distal epiphysis of ulna A distal epiphysis that is part of a ulna [Automatically generated definition]. FMA:33754 hp.json distal end of ulna|lower end of ulna http://purl.obolibrary.org/obo/UBERON_0004408 pheno_slim UBERON:0004409 biolink:AnatomicalEntity distal epiphysis of phalanx of manus A distal epiphysis that is part of a phalanx of manus [Automatically generated definition]. FMA:226577 hp.json ungual tuberosity of distal phalanx of finger|distal epiphysis of phalanx of hand|distal end of phalanx of hand|distal epiphysis of phalanx of finger|head of phalanx of hand|head of phalanx of finger http://purl.obolibrary.org/obo/UBERON_0004409 UBERON:0004406 biolink:AnatomicalEntity distal epiphysis of femur A distal epiphysis that is part of a femur [Automatically generated definition]. FMA:32844|AAO:0000893 hp.json distal head of femur|distal femoral epiphysis http://purl.obolibrary.org/obo/UBERON_0004406 pheno_slim UBERON:0004407 biolink:AnatomicalEntity distal epiphysis of radius A distal epiphysis that is part of a radius [Automatically generated definition]. FMA:33776 hp.json distal end of radius|lower end of radius http://purl.obolibrary.org/obo/UBERON_0004407 pheno_slim CHEBI:45696 biolink:ChemicalSubstance hydrogensulfate Gmelin:2121 hp.json HSO4(-)|hydrogentetraoxosulfate(VI)|hydroxidotrioxidosulfate(1-)|hydrogensulfate(1-)|hydrogensulfate|[SO3(OH)](-)|hydrogen(tetraoxidosulfate)(1-)|HYDROGEN SULFATE|hydrogentetraoxosulfate(1-) http://purl.obolibrary.org/obo/CHEBI_45696 3_STAR PATO:0002154 biolink:NamedThing splayed ventral A curvature quality inhering in a bearer by virtue of the bearer's being curved outwards the abdomen of an organism. hp.json splayed inferior (human head)|splayed anterior (human torso) http://purl.obolibrary.org/obo/PATO_0002154 value_slim CHEBI:57670 biolink:ChemicalSubstance N-acylglycinate A carboxylic acid anion obtained by deprotonation of the carboxy group of any N-acylglycine. hp.json an N-acylglycine http://purl.obolibrary.org/obo/CHEBI_57670 3_STAR PATO:0002157 biolink:NamedThing partially dislocated A positional quality inhering in a bearer by virtue of the bearer's being slightly out of its usual or proper place, or position. hp.json subluxation|partial dislocated towards|suluxated towards http://purl.obolibrary.org/obo/PATO_0002157 value_slim|relational_slim PATO:0002155 biolink:NamedThing medially rotated A rotation quality inhering in a bearer by virtue of being rotated towards the middle of an organism. hp.json internally rotated http://purl.obolibrary.org/obo/PATO_0002155 mpath_slim|value_slim PATO:0002156 biolink:NamedThing laterally rotated A rotation quality inhering in a bearer by virtue of being rotated towards the side of an organism. hp.json externally rotated http://purl.obolibrary.org/obo/PATO_0002156 value_slim|mpath_slim UBERON:0004415 biolink:AnatomicalEntity proximal epiphysis of metatarsal bone A proximal epiphysis that is part of a metatarsal bone [Automatically generated definition]. FMA:33817 hp.json basis ossis metatarsi|upper end of metatarsal bone|base of metatarsal bone|proximal end of metatarsal bone http://purl.obolibrary.org/obo/UBERON_0004415 UBERON:0004416 biolink:AnatomicalEntity proximal epiphysis of metacarpal bone A proximal epiphysis that is part of a metacarpal bone [Automatically generated definition]. FMA:33795 hp.json proximal end of metacarpal bone|metacarpal bone base|basis ossis metacarpi|upper end of metacarpal bone|base of metacarpal bone http://purl.obolibrary.org/obo/UBERON_0004416 UBERON:0004413 biolink:AnatomicalEntity proximal epiphysis of radius A proximal epiphysis that is part of a radius [Automatically generated definition]. FMA:39780 hp.json upper end of radius|proximal radial epiphysis|proximal end of radius http://purl.obolibrary.org/obo/UBERON_0004413 pheno_slim UBERON:0004414 biolink:AnatomicalEntity proximal epiphysis of phalanx of manus A proximal epiphysis that is part of a phalanx of manus [Automatically generated definition]. FMA:226482 hp.json proximal epiphysis of phalanx of hand|basis phalangis manus|basal epiphysis of phalanx of finger|proximal epiphysis of phalanx of finger|base of phalanx of finger http://purl.obolibrary.org/obo/UBERON_0004414 UBERON:0004411 biolink:AnatomicalEntity proximal epiphysis of humerus The upper extremity of the humerus (proximal humerus) consists of a large rounded head joined to the body by a constricted portion called the neck, and two eminences, the greater and lesser tubercles. FMA:23362 hp.json proximal humeral epiphysis|proximal humerus|head of the humerus|proximal end of humerus|upper extremity of humerus|humeral head|upper end of humerus http://purl.obolibrary.org/obo/UBERON_0004411 pheno_slim UBERON:0004412 biolink:AnatomicalEntity proximal epiphysis of femur A proximal epiphysis that is part of a femur [Automatically generated definition]. FMA:32841 hp.json capital femoral epiphysis|proximal femoral epiphysis http://purl.obolibrary.org/obo/UBERON_0004412 pheno_slim UBERON:0004410 biolink:AnatomicalEntity distal epiphysis of fibula A distal epiphysis that is part of a fibula [Automatically generated definition]. FMA:33732 hp.json distal end of fibula|lower end of fibula http://purl.obolibrary.org/obo/UBERON_0004410 pheno_slim CHEBI:33693 biolink:ChemicalSubstance oxygen hydride hp.json hydrides of oxygen|oxygen hydride|oxygen hydrides http://purl.obolibrary.org/obo/CHEBI_33693 3_STAR PATO:0002165 biolink:NamedThing drooping To bent or hang downwards. hp.json sagging http://purl.obolibrary.org/obo/PATO_0002165 value_slim CHEBI:33694 biolink:ChemicalSubstance biomacromolecule A macromolecule formed by a living organism. hp.json Biopolymere|biopolymers|biomacromolecules|biopolymer http://purl.obolibrary.org/obo/CHEBI_33694 3_STAR CHEBI:33695 biolink:ChemicalSubstance information biomacromolecule hp.json information macromolecules|information biomacromolecules|information macromolecule|genetically encoded biopolymers|information biopolymers|genetically encoded biomacromolecules http://purl.obolibrary.org/obo/CHEBI_33695 3_STAR PATO:0002162 biolink:NamedThing high-arched A concave quality inhering in a bearer by virtue of the bearer's forming or resembling an arch of an increased apical height. hp.json http://purl.obolibrary.org/obo/PATO_0002162 value_slim CHEBI:33696 biolink:ChemicalSubstance nucleic acid A macromolecule made up of nucleotide units and hydrolysable into certain pyrimidine or purine bases (usually adenine, cytosine, guanine, thymine, uracil), D-ribose or 2-deoxy-D-ribose and phosphoric acid. hp.json nucleic acids|acide nucleique|acidos nucleicos|Nukleinsaeure|NA|acido nucleico|acides nucleiques|Nukleinsaeuren http://purl.obolibrary.org/obo/CHEBI_33696 3_STAR PATO:0002163 biolink:NamedThing herniated into A quality inhering in a bearer by virtue of the bearer's bodily structure that has protruded through an abnormal opening in the wall that contains it into the surface or boundary of another entity. hp.json http://purl.obolibrary.org/obo/PATO_0002163 mpath_slim|relational_slim|value_slim CHEBI:33697 biolink:ChemicalSubstance ribonucleic acid High molecular weight, linear polymers, composed of nucleotides containing ribose and linked by phosphodiester bonds; RNA is central to the synthesis of proteins. CAS:63231-63-0 hp.json ribose nucleic acid|ribonucleic acid|yeast nucleic acid|RNS|RNA|RNA|pentosenucleic acids|ribonucleic acids|ribonucleic acids|Ribonukleinsaeure http://purl.obolibrary.org/obo/CHEBI_33697 3_STAR PATO:0002169 biolink:NamedThing split medially A shape quality inhering in a bearer by virtue of the bearer's being split along the median axis. hp.json http://purl.obolibrary.org/obo/PATO_0002169 value_slim PATO:0002166 biolink:NamedThing premature closure A duration quality of a process inhering in a bearer by virtue of the bearer's premature completion of the closure of the opening of an anatomical entity. hp.json http://purl.obolibrary.org/obo/PATO_0002166 value_slim UBERON:0004404 biolink:AnatomicalEntity distal epiphysis of humerus A distal epiphysis that is part of a humerus [Automatically generated definition]. FMA:32826 hp.json distal end of humerus|lower end of humerus http://purl.obolibrary.org/obo/UBERON_0004404 pheno_slim UBERON:0004405 biolink:AnatomicalEntity distal epiphysis of tibia A distal epiphysis that is part of a tibia [Automatically generated definition]. FMA:33116 hp.json distal end of tibia|lower end of tibia http://purl.obolibrary.org/obo/UBERON_0004405 pheno_slim UBERON:0004402 biolink:AnatomicalEntity bone tissue of proximal epiphysis A portion of bone tissue that is part of a proximal epiphysis [Automatically generated definition]. FMA:241372 hp.json http://purl.obolibrary.org/obo/UBERON_0004402 UBERON:0004403 biolink:AnatomicalEntity periosteum of epiphysis A periosteum that is part of a epiphysis [Automatically generated definition]. FMA:32687 hp.json epiphysis periosteum http://purl.obolibrary.org/obo/UBERON_0004403 UBERON:0004400 biolink:AnatomicalEntity bone tissue of epiphysis A portion of bone tissue that is part of a epiphysis [Automatically generated definition]. FMA:241364 hp.json http://purl.obolibrary.org/obo/UBERON_0004400 UBERON:0004401 biolink:AnatomicalEntity bone tissue of distal epiphysis A portion of bone tissue that is part of a distal epiphysis [Automatically generated definition]. FMA:241374 hp.json http://purl.obolibrary.org/obo/UBERON_0004401 PATO:0002161 biolink:NamedThing bicornuate Having two horns or horn-shaped branches. hp.json http://purl.obolibrary.org/obo/PATO_0002161 value_slim CHEBI:33692 biolink:ChemicalSubstance hydrides Hydrides are chemical compounds of hydrogen with other chemical elements. hp.json http://purl.obolibrary.org/obo/CHEBI_33692 3_STAR CHEBI:18095 biolink:ChemicalSubstance trans-4-hydroxy-L-proline An optically active form of 4-hydroxyproline having L-trans-configuration. PMID:17021603|PMID:590925|PMID:16096557|PMID:6783274|PMID:12148113|MetaCyc:4-HYDROXY-L-PROLINE|CAS:51-35-4|PMID:7283558|Drug_Central:4272|PMID:7446210|PMID:14995121|PDBeChem:HYP|PMID:1117843|PMID:7248905|PMID:1166829|PMID:15558350|CAS:51-35-4|PMID:899882|CAS:51-35-4|PMID:14104082|PMID:16665943|PMID:616023|PMID:946341|PMID:16662024|HMDB:HMDB0000725|PMID:16656634|Reaxys:81441|KEGG:C01157|PMID:19286848|PMID:6625779|PMID:6616407|KNApSAcK:C00001370 hp.json Hydroxyproline|(2S,4R)-trans-4-hydroxyproline|(4R)-4-hydroxy-L-proline|Hypro|trans-4-Hydroxy-L-proline|Hyp|L-4-Hydroxyproline|(2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid|L-threo-4-hydroxyproline|trans-L-Hydroxyproline|trans-Hydroxyproline|delta-hydroxyproline|trans-4-hydroxy-L-proline|Hydroxy-L-proline http://purl.obolibrary.org/obo/CHEBI_18095 3_STAR PATO:0002175 biolink:NamedThing deviation A spatial quality inhering in a bearer by virtue of the bearer's changed direction of position towards another entity. hp.json http://purl.obolibrary.org/obo/PATO_0002175 attribute_slim PATO:0002176 biolink:NamedThing deviation towards the lateral side A deviation quality inhering in a bearer by virtue of the bearer's changed direction of position towards the side. hp.json http://purl.obolibrary.org/obo/PATO_0002176 value_slim PATO:0002179 biolink:NamedThing mislocalised proximally A positional quality inhering in a bearer by virtue of the bearer's being positioned towards to point of attachment or origin. hp.json http://purl.obolibrary.org/obo/PATO_0002179 value_slim PATO:0002177 biolink:NamedThing deviation towards the medial side A deviation quality inhering in a bearer by virtue of the bearer's changed direction of position towards the middle. hp.json http://purl.obolibrary.org/obo/PATO_0002177 value_slim NCBITaxon:8457 biolink:OrganismalEntity Sauropsida GC_ID:1 hp.json sauropsids http://purl.obolibrary.org/obo/NCBITaxon_8457 CHEBI:18089 biolink:ChemicalSubstance N-benzoylglycine An N-acylglycine in which the acyl group is specified as benzoyl. MetaCyc:CPD-425|KEGG:C01586|PMID:16760132|CAS:495-69-2|PMID:19891605|PMID:17190852|CAS:495-69-2|CAS:495-69-2|PMID:19283696|PMID:9120876|PMID:9609721|PMID:14646363|PMID:15879000|PMID:8734460|PMID:7153346|Reaxys:1073987|KNApSAcK:C00030483|Wikipedia:Hippuric_acid|PMID:20405919|HMDB:HMDB0000714|PMID:22770225 hp.json N-Benzoylglycine|Hippursaeure|N-benzoylglycine|Benzamidoessigsaeure|N-benzoylglycine|Benzoylaminoessigsaeure|Benzoylaminoacetic acid|Benzamidoacetic acid|Phenylcarbonylaminoacetic acid|Hippuric acid|Hippurate http://purl.obolibrary.org/obo/CHEBI_18089 3_STAR CHEBI:57652 biolink:ChemicalSubstance chondroitin D-glucuronate anion Anionic form of chondroitin D-glucuronate arising from deprotonation of the carboxylic acid groups of the repeating units; major species at pH 7.3. hp.json chondroitin D-glucuronate|chondroitin D-glucuronate polyanion http://purl.obolibrary.org/obo/CHEBI_57652 3_STAR UBERON:0016440 biolink:AnatomicalEntity glabella region of bone A zone of the frontal bone that connects the supraorbital rirdges. FMA:52851|FMA:57136 hp.json glabellar surface of frontal bone|glabella http://purl.obolibrary.org/obo/UBERON_0016440 pheno_slim UBERON:0016442 biolink:AnatomicalEntity median palatine suture The line of junction between the horizontal parts of the palatine bones that extends from both sides of the skull to form the posterior part of the hard palate. FMA:52966 hp.json median palatine suture of skull|midpalatal suture of skull|middle palatine suture of skull http://purl.obolibrary.org/obo/UBERON_0016442 pheno_slim UBERON:0016447 biolink:AnatomicalEntity hair of trunk A strand of hair that is part of a trunk. FMA:54250 hp.json trunk hair http://purl.obolibrary.org/obo/UBERON_0016447 pheno_slim UBERON:0016446 biolink:AnatomicalEntity hair of head A strand of hair that is part of a head. FMA:54241 hp.json hair of scalp|head hair http://purl.obolibrary.org/obo/UBERON_0016446 pheno_slim UBERON:0004462 biolink:AnatomicalEntity musculature of body wall Any collection of muscles that is part of a body wall [Automatically generated definition]. BSA:0000058|FMA:86931|EMAPA:37853|WBbt:0005813|BTO:0001863 hp.json body wall musculature|body wall muscles http://purl.obolibrary.org/obo/UBERON_0004462 CHEBI:33671 biolink:ChemicalSubstance heteropolycyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. hp.json polyheterocyclic compounds|heteropolycyclic compounds http://purl.obolibrary.org/obo/CHEBI_33671 3_STAR UBERON:0004463 biolink:AnatomicalEntity musculature of hindlimb stylopod Any collection of muscles that is part of a hindlimb stylopod (upper leg / thigh)[Automatically generated definition]. FMA:50208 hp.json thigh musculature|musculature of thigh|set of muscles of thigh|muscle group of thigh http://purl.obolibrary.org/obo/UBERON_0004463 pheno_slim CHEBI:33672 biolink:ChemicalSubstance heterobicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. hp.json heterobicyclic compounds http://purl.obolibrary.org/obo/CHEBI_33672 3_STAR HP:0004510 biolink:PhenotypicFeature Pancreatic islet-cell hyperplasia Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. UMLS:C0597167 hp.json Islet of Langerhans hyperplasia|Pancreatic islet-cell hypertrophy|Hypertrophic pancreatic islets|Islets of langerhans hypertrophy|Hyperplastic islets of langerhans http://purl.obolibrary.org/obo/HP_0004510 UBERON:0004461 biolink:AnatomicalEntity skeletal musculature of head Any collection of skeletal muscles that is part of a head [Automatically generated definition]. FMA:71287|EMAPA:18171 hp.json set of muscles of head|muscles of head|muscle group of head|musculi capitis|head musculature http://purl.obolibrary.org/obo/UBERON_0004461 non_informative CHEBI:33674 biolink:ChemicalSubstance s-block molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. hp.json s-block molecular entity|s-block molecular entities|s-block compounds http://purl.obolibrary.org/obo/CHEBI_33674 3_STAR CHEBI:33675 biolink:ChemicalSubstance p-block molecular entity A main group molecular entity that contains one or more atoms of a p-block element. hp.json p-block compounds|p-block molecular entitiy|p-block molecular entities http://purl.obolibrary.org/obo/CHEBI_33675 3_STAR CHEBI:33676 biolink:ChemicalSubstance d-block molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. hp.json d-block molecular entity|d-block molecular entities|d-block compounds http://purl.obolibrary.org/obo/CHEBI_33676 3_STAR UBERON:0004468 biolink:AnatomicalEntity set of muscles of vertebral column FMA:33061 hp.json muscle group of vertebral column http://purl.obolibrary.org/obo/UBERON_0004468 UBERON:0004469 biolink:AnatomicalEntity musculature of back Any collection of muscles that is part of a back [Automatically generated definition]. FMA:71291 hp.json muscle group of back|musculi dorsi|set of muscles of back|muscles of back http://purl.obolibrary.org/obo/UBERON_0004469 UBERON:0004466 biolink:AnatomicalEntity musculature of leg Any collection of muscles that is part of a lower leg or upper leg [Automatically generated definition]. EHDAA2:0000973 hp.json leg muscle system http://purl.obolibrary.org/obo/UBERON_0004466 CHEBI:31011 biolink:ChemicalSubstance valerate A short-chain fatty acid anion that is the conjugate base of valeric acid; present in ester form as component of many steroid-based pharmaceuticals. PMID:17314444|Gmelin:325619|PMID:18783570|Beilstein:3903735|Reaxys:3903735|CAS:10023-74-2 hp.json pentanoate|CH3-[CH2]3-COO(-)|pentanoic acid, ion(1-)|pentanoate|n-propylacetate http://purl.obolibrary.org/obo/CHEBI_31011 3_STAR UBERON:0004467 biolink:AnatomicalEntity musculature of pharynx The collection of muscles that acts on the pharynx. FMA:264609|ZFA:0001307|TAO:0001307 hp.json pharyngeal musculature|set of muscles of pharynx http://purl.obolibrary.org/obo/UBERON_0004467 vertebrate_core UBERON:0004464 biolink:AnatomicalEntity musculature of thorax Any collection of muscles that is part of a thorax [Automatically generated definition]. FMA:71293|BTO:0000508|EMAPA:37260 hp.json musculi thoracis|set of muscles of thorax|thoracic musculature|muscles of thorax|muscle group of thorax http://purl.obolibrary.org/obo/UBERON_0004464 pheno_slim UBERON:0004465 biolink:AnatomicalEntity musculature of neck Any collection of muscles that is part of a neck [Automatically generated definition]. AAO:0000091|EMAPA:36050|MESH:D009334|FMA:71290 hp.json musculi colli|muscles of neck|muscle group of neck|musculi cervicis|neck musculature|set of muscles of neck|cervical muscles http://purl.obolibrary.org/obo/UBERON_0004465 pheno_slim CHEBI:33670 biolink:ChemicalSubstance heteromonocyclic compound hp.json heteromonocyclic compound|heteromonocyclic compounds http://purl.obolibrary.org/obo/CHEBI_33670 3_STAR UBERON:0016430 biolink:AnatomicalEntity palmar branch of median nerve The palmar branch of the median nerve is a branch of the median nerve which arises at the lower part of the forearm and innervates skin of proximal central palm and thenar eminence. FMA:44836 hp.json ramus palmaris nervus interossei antebrachii anterior|palmar branch of anterior interosseous nerve|ramus palmaris (nervus medianus)|palmar cutaneous branch of median nerve|median nerve palmar branch http://purl.obolibrary.org/obo/UBERON_0016430 pheno_slim PATO:0002118 biolink:NamedThing multiple A quality inhering in a bearer by virtue of the bearer's being present in more than two copies. hp.json http://purl.obolibrary.org/obo/PATO_0002118 value_slim|mpath_slim HP:0004529 biolink:PhenotypicFeature Atrophic, patchy alopecia UMLS:C4025314 hp.json http://purl.obolibrary.org/obo/HP_0004529 HP:0004528 biolink:PhenotypicFeature Generalized hypotrichosis Reduced or lacking hair growth in a generalized distribution. UMLS:C4021653 hp.json Hypotrichosis, generalized|Hypotrichosis, generalised|Generalised hypotrichosis http://purl.obolibrary.org/obo/HP_0004528 UBERON:0016435 biolink:AnatomicalEntity chest wall Subdivision of thorax which includes all structures from the skin to the costal pleura. Examples: There is only one chest wall. FMA:50060|NCIT:C62484|EMAPA:37233 hp.json http://purl.obolibrary.org/obo/UBERON_0016435 pheno_slim UBERON:0004451 biolink:AnatomicalEntity trunk or cervical vertebra A vertebra in the trunk or cervical region. Includes all cervical, thoracic and lumbar vertebrae, but excludes caudal vertebra. XAO:0003077|EMAPA:37722|MA:0002869 hp.json presacral vertebra http://purl.obolibrary.org/obo/UBERON_0004451 pheno_slim HP:0004523 biolink:PhenotypicFeature Long eyebrows Increased length of the hairs of the eyebrows. UMLS:C3280131 hp.json Increased horizontal length of eyebrow|Long eyebrows|Elongated eyebrow|Increased transverse length of eyebrow http://purl.obolibrary.org/obo/HP_0004523 UBERON:0004452 biolink:AnatomicalEntity carpal region A mesopodium that is part of a manus. Includes as parts the carpal skeleton and associated tissues[cjm]. The anatomical region surrounding the carpus including the distal parts of the bones of the forearm and the proximal parts of the metacarpus or five metacarpal bones and the series of joints between these bones, thus referred to as wrist joints. This region also includes the carpal tunnel, the anatomical snuff box, the flexor retinaculum, and the extensor retinaculum[WP,unvetted]. MESH:D014953|EMAPA:19122|GAID:59|NCIT:C111033|FMA:24922|EMAPA:32784|OpenCyc:Mx4rvVjncpwpEbGdrcN5Y29ycA|EHDAA:5196|EHDAA2:0000218|MA:0000039|galen:Wrist hp.json carpus|carpal limb segment|fore basipodium|fore mesopodium|carpal segment|regio carpalis|manus mesopodium|carpus of fore-paw|articulatio radiocarpea|wrist region|wrist|hand mesopodium http://purl.obolibrary.org/obo/UBERON_0004452 pheno_slim|uberon_slim HP:0004527 biolink:PhenotypicFeature Large clumps of pigment irregularly distributed along hair shaft UMLS:C4025315 hp.json Large clumps of pigment irregularly distributed along hair shaft http://purl.obolibrary.org/obo/HP_0004527 PATO:0002112 biolink:NamedThing perforate A structural quality inhering in a bearer by virtue of the bearer's having a hole or holes, especially a row or array of small holes. hp.json permeable|pierced http://purl.obolibrary.org/obo/PATO_0002112 value_slim|mpath_slim HP:0004524 biolink:PhenotypicFeature Temporal hypotrichosis Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). UMLS:C4025316 hp.json Reduced hair growth in temporal region http://purl.obolibrary.org/obo/HP_0004524 UBERON:0004455 biolink:AnatomicalEntity neurula embryo An embryo at the neurula stage. NCIT:C34229|BILA:0000061|BTO:0001766|UMLS:C1518306 hp.json neurula http://purl.obolibrary.org/obo/UBERON_0004455 UBERON:0004456 biolink:AnatomicalEntity entire sense organ system Sum of all sensory systems in an organism. FMA:78499 hp.json sense organ system http://purl.obolibrary.org/obo/UBERON_0004456 uberon_slim UBERON:0004453 biolink:AnatomicalEntity metacarpus region A metapodium region that is part of a manus. FMA:24925|MA:0000042|EMAPA:32654|CALOHA:TS-2218 hp.json metacarpal region|distal segment of hand proper|metacarpus|metacarpal part of manus|metacarpal part of hand|forelimb cannon region|forelimb equine cannon region http://purl.obolibrary.org/obo/UBERON_0004453 pheno_slim UBERON:0004454 biolink:AnatomicalEntity tarsal region Mesopodial segment of the pes, including the tarsal skeleton and associated tissues. EFO:0001409|MESH:D000842|FMA:9665|MA:0000043|OpenCyc:Mx4rvVi-R5wpEbGdrcN5Y29ycA|galen:Ankle|CALOHA:TS-2219|EMAPA:32783|GAID:41 hp.json ankle|hind basipodium|ankle region|tarsal limb segment|hock|hind mesopodium|articulatio talocruralis http://purl.obolibrary.org/obo/UBERON_0004454 pheno_slim|efo_slim|uberon_slim CHEBI:57630 biolink:ChemicalSubstance gamma-amino-beta-hydroxybutyric acid zwitterion Zwitterionic form of gamma-amino-beta-hydroxybutyric acid having an anionic carboxy group and a protonated amino group. hp.json 4-ammonio-3-hydroxybutanoate|4-azaniumyl-3-hydroxybutanoate|4-amino-3-hydroxybutanoate http://purl.obolibrary.org/obo/CHEBI_57630 3_STAR UBERON:0004439 biolink:AnatomicalEntity proximal epiphysis of middle phalanx of manual digit 5 A proximal epiphysis that is part of a middle phalanx of manual digit 5 [Automatically generated definition]. FMA:37538 hp.json basal epiphysis of middle phalanx of little finger|basal epiphysis of middle phalanx of fifth finger|proximal epiphysis of middle phalanx of little finger|base of middle phalanx of little finger|base of middle phalanx of fifth finger|proximal epiphysis of middle phalanx of manual digit V|base of middle phalanx of fifth digit of hand http://purl.obolibrary.org/obo/UBERON_0004439 UBERON:0016426 biolink:AnatomicalEntity proximal interphalangeal joint of little finger FMA:35324 hp.json http://purl.obolibrary.org/obo/UBERON_0016426 pheno_slim CHEBI:33658 biolink:ChemicalSubstance arene Any monocyclic or polycyclic aromatic hydrocarbon. hp.json arene|aromatic hydrocarbons|arenes http://purl.obolibrary.org/obo/CHEBI_33658 3_STAR UBERON:0016425 biolink:AnatomicalEntity epiphyseal plate of radius An epiphyseal plate that is part of a radius bone. FMA:34354 hp.json http://purl.obolibrary.org/obo/UBERON_0016425 pheno_slim CHEBI:33659 biolink:ChemicalSubstance organic aromatic compound hp.json organic aromatic compounds http://purl.obolibrary.org/obo/CHEBI_33659 3_STAR UBERON:0016422 biolink:AnatomicalEntity compact bone of long bone A compact bone tissue that is part of a bone tissue of long bone. FMA:32674 hp.json http://purl.obolibrary.org/obo/UBERON_0016422 pheno_slim UBERON:0016423 biolink:AnatomicalEntity compact bone of diaphysis A compact bone tissue that is part of a diaphysis. FMA:32678 hp.json http://purl.obolibrary.org/obo/UBERON_0016423 pheno_slim UBERON:0004440 biolink:AnatomicalEntity proximal epiphysis of proximal phalanx of manual digit 2 A proximal epiphysis that is part of a proximal phalanx of manual digit 2 [Automatically generated definition]. FMA:37499 hp.json base of proximal phalanx of second digit of hand|base of proximal phalanx of index finger|proximal epiphysis of proximal phalanx of index finger|base of proximal phalanx of second finger|proximal epiphysis of proximal phalanx of manual digit II http://purl.obolibrary.org/obo/UBERON_0004440 UBERON:0004441 biolink:AnatomicalEntity proximal epiphysis of proximal phalanx of manual digit 3 A proximal epiphysis that is part of a proximal phalanx of manual digit 3 [Automatically generated definition]. FMA:37511 hp.json proximal epiphysis of proximal phalanx of manual digit III|base of proximal phalanx of middle finger|base of proximal phalanx of third finger|base of proximal phalanx of third digit of hand|basal epiphysis of proximal phalanx of middle finger|proximal epiphysis of proximal phalanx of middle finger http://purl.obolibrary.org/obo/UBERON_0004441 PATO:0002124 biolink:NamedThing laminar A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. hp.json http://purl.obolibrary.org/obo/PATO_0002124 value_slim|mpath_slim UBERON:0016419 biolink:AnatomicalEntity bony part of vertebral arch FMA:29741 hp.json bony part of arch of vertebra http://purl.obolibrary.org/obo/UBERON_0016419 CHEBI:33653 biolink:ChemicalSubstance aliphatic compound Any acyclic or cyclic, saturated or unsaturated carbon compound, excluding aromatic compounds. hp.json aliphatic compounds http://purl.obolibrary.org/obo/CHEBI_33653 3_STAR UBERON:0016418 biolink:AnatomicalEntity nasion The intersection of the frontal and two nasal bones of the human skull. Its manifestation on the visible surface of the face is a distinctly depressed area directly between the eyes, just superior to the bridge of the nose. FMA:264779 hp.json http://purl.obolibrary.org/obo/UBERON_0016418 pheno_slim CHEBI:33655 biolink:ChemicalSubstance aromatic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. hp.json aromatic molecular entity|aromatics|aromatic compounds|aromatische Verbindungen http://purl.obolibrary.org/obo/CHEBI_33655 3_STAR UBERON:0004448 biolink:AnatomicalEntity distal epiphysis of phalanx A distal epiphysis that is part of a phalanx [Automatically generated definition]. hp.json head of phalanx http://purl.obolibrary.org/obo/UBERON_0004448 UBERON:0004449 biolink:AnatomicalEntity cerebral artery One of three main pairs of arteries and their branches, which irrigate the cerebrum of the brain. AAO:0010493|NCIT:C12691|CALOHA:TS-0126|EHDAA:5294|EMAPA:18613|XAO:0000367|UMLS:C0007770|MESH:D002536|SCTID:181308008|GAID:484|MA:0002562|EHDAA2:0000233|Wikipedia:Cerebral_artery|BTO:0005205 hp.json http://purl.obolibrary.org/obo/UBERON_0004449 pheno_slim UBERON:0004446 biolink:AnatomicalEntity epiphysis of phalanx An epiphysis that is part of a phalanx [Automatically generated definition]. hp.json http://purl.obolibrary.org/obo/UBERON_0004446 pheno_slim CHEBI:18059 biolink:ChemicalSubstance lipid 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. KEGG:C01356 hp.json Lipid|lipids http://purl.obolibrary.org/obo/CHEBI_18059 3_STAR UBERON:0004447 biolink:AnatomicalEntity proximal epiphysis of phalanx A proximal epiphysis that is part of a phalanx [Automatically generated definition]. hp.json http://purl.obolibrary.org/obo/UBERON_0004447 UBERON:0004444 biolink:AnatomicalEntity proximal epiphysis of distal phalanx of manual digit 1 A proximal epiphysis that is part of a distal phalanx of manual digit 1 [Automatically generated definition]. FMA:37493 hp.json base of distal phalanx of thumb|proximal epiphysis of distal phalanx of manual digit I|proximal epiphysis of distal phalanx of thumb http://purl.obolibrary.org/obo/UBERON_0004444 UBERON:0004445 biolink:AnatomicalEntity proximal epiphysis of proximal phalanx of manual digit 1 A proximal epiphysis that is part of a proximal phalanx of manual digit 1 [Automatically generated definition]. FMA:37490 hp.json basal epiphysis of proximal phalanx of thumb|proximal epiphysis of proximal phalanx of thumb|proximal epiphysis of proximal phalanx of manual digit I|base of proximal phalanx of thumb http://purl.obolibrary.org/obo/UBERON_0004445 UBERON:0004442 biolink:AnatomicalEntity proximal epiphysis of proximal phalanx of manual digit 4 A proximal epiphysis that is part of a proximal phalanx of manual digit 4 [Automatically generated definition]. FMA:37523 hp.json basal epiphysis of proximal phalanx of fourth finger|proximal epiphysis of proximal phalanx of manual digit IV|basal epiphysis of proximal phalanx of ring finger|base of proximal phalanx of fourth finger|proximal epiphysis of proximal phalanx of ring finger|base of proximal phalanx of ring finger|base of proximal phalanx of fourth digit of hand http://purl.obolibrary.org/obo/UBERON_0004442 UBERON:0004443 biolink:AnatomicalEntity proximal epiphysis of proximal phalanx of manual digit 5 A proximal epiphysis that is part of a proximal phalanx of manual digit 5 [Automatically generated definition]. FMA:37535 hp.json proximal epiphysis of proximal phalanx of little finger|proximal epiphysis of proximal phalanx of manual digit V|base of proximal phalanx of little finger|base of proximal phalanx of fifth digit of hand|base of proximal phalanx of fifth finger|basal epiphysis of proximal phalanx of little finger http://purl.obolibrary.org/obo/UBERON_0004443 UBERON:0004428 biolink:AnatomicalEntity proximal epiphysis of second metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 2 [Automatically generated definition]. FMA:42964 hp.json proximal end of second metatarsal bone|proximal epiphysis of metatarsal 2|base of second metatarsal bone http://purl.obolibrary.org/obo/UBERON_0004428 UBERON:0004429 biolink:AnatomicalEntity proximal epiphysis of third metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 3 [Automatically generated definition]. FMA:42965 hp.json proximal end of third metatarsal bone|proximal epiphysis of metatarsal 3|base of third metatarsal bone http://purl.obolibrary.org/obo/UBERON_0004429 UBERON:0016416 biolink:AnatomicalEntity anterior chest Subdivision of thorax which is anterior to the plane of the posterior boundary of the middle mediastinum. FMA:24816 hp.json front of chest|ventral chest|anterior thoracic region http://purl.obolibrary.org/obo/UBERON_0016416 pheno_slim CHEBI:45630 biolink:ChemicalSubstance 4-oxopentanoic acid An oxopentanoic acid with the oxo group in the 4-position. CAS:123-76-2|PMID:23627123|Gmelin:164703|PMID:13215009|PMID:16662002|LIPID_MAPS_instance:LMFA01060006|Beilstein:506796|Wikipedia:Levulinic_acid|HMDB:HMDB0000720|Reaxys:506796|PDBeChem:SHF|DrugBank:DB02239|PMID:19246769|CAS:123-76-2 hp.json 3-ketobutane-1-carboxylic acid|Levulinsaeure|4-oxopentanoic acid|4-oxovaleric acid|LEVA|gamma-ketovaleric acid|4-ketovaleric acid|beta-acetylpropionic acid|LAEVULINIC ACID|Laevulinsaeure|3-acetylpropionic acid|gamma-ketovaleric acid|levulic acid|levulinic acid http://purl.obolibrary.org/obo/CHEBI_45630 3_STAR UBERON:0016410 biolink:AnatomicalEntity male breast A breast that is part of a male organism. FMA:19901|NCIT:C33048 hp.json mamma masculina http://purl.obolibrary.org/obo/UBERON_0016410 pheno_slim UBERON:0016413 biolink:AnatomicalEntity medullary cavity of long bone FMA:24023 hp.json central medullary cavity of long bone http://purl.obolibrary.org/obo/UBERON_0016413 pheno_slim UBERON:0016412 biolink:AnatomicalEntity central part of body of bony vertebral centrum FMA:24003 hp.json central part of body of vertebra http://purl.obolibrary.org/obo/UBERON_0016412 pheno_slim UBERON:0004430 biolink:AnatomicalEntity proximal epiphysis of fourth metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 4 [Automatically generated definition]. FMA:42966 hp.json base of fourth metatarsal bone|proximal epiphysis of metatarsal 4|proximal end of fourth metatarsal bone http://purl.obolibrary.org/obo/UBERON_0004430 CHEBI:33661 biolink:ChemicalSubstance monocyclic compound hp.json monocyclic compounds http://purl.obolibrary.org/obo/CHEBI_33661 3_STAR NCBITaxon:8492 biolink:OrganismalEntity Archosauria GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_8492 CHEBI:33662 biolink:ChemicalSubstance annulene A mancude monocyclic hydrocarbon without side chains of the general formula CnHn (n is an even number) or CnHn+1 (n is an odd number). In systematic nomenclature an annulene with seven or more carbon atoms may be named [n]annulene, where n is the number of carbon atoms. hp.json annulene|annulenes http://purl.obolibrary.org/obo/CHEBI_33662 3_STAR CHEBI:33663 biolink:ChemicalSubstance cyclic hydrocarbon hp.json cyclic hydrocarbon|cyclic hydrocarbons http://purl.obolibrary.org/obo/CHEBI_33663 3_STAR UBERON:0016408 biolink:AnatomicalEntity corona of glans penis The circumference of the base of the glans forms a rounded projecting border, the corona of the glans penis, overhanging a deep retroglandular sulcus, behind which is the neck of the penis. FMA:19627 hp.json glans corona|corona glandis|corona of penis http://purl.obolibrary.org/obo/UBERON_0016408 pheno_slim CHEBI:33664 biolink:ChemicalSubstance monocyclic hydrocarbon hp.json monocyclic hydrocarbons|monocyclic hydrocarbons|monocyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33664 3_STAR PATO:0002135 biolink:NamedThing delayed closure A duration quality of a process inhering in a bearer by virtue of the bearer's delay to complete the closure of the opening of an anatomical entity. hp.json http://purl.obolibrary.org/obo/PATO_0002135 UBERON:0016409 biolink:AnatomicalEntity base of glans penis FMA:19649 hp.json glans penile base http://purl.obolibrary.org/obo/UBERON_0016409 pheno_slim HP:0004502 biolink:PhenotypicFeature Bilateral choanal atresia Bilateral absence (atresia) of the posterior nasal aperture (choana). UMLS:C4025317 hp.json Bilateral blockage of the rear opening of the nasal cavity|Bilateral obstruction of the rear opening of the nasal cavity http://purl.obolibrary.org/obo/HP_0004502 UBERON:0004437 biolink:AnatomicalEntity proximal epiphysis of middle phalanx of manual digit 3 A proximal epiphysis that is part of a middle phalanx of manual digit 3 [Automatically generated definition]. FMA:37514 hp.json base of middle phalanx of middle finger|base of middle phalanx of third finger|proximal epiphysis of middle phalanx of manual digit III|base of middle phalanx of third digit of hand|basal epiphysis of middle phalanx of middle finger|proximal epiphysis of middle phalanx of middle finger http://purl.obolibrary.org/obo/UBERON_0004437 UBERON:0004438 biolink:AnatomicalEntity proximal epiphysis of middle phalanx of manual digit 4 A proximal epiphysis that is part of a middle phalanx of manual digit 4 [Automatically generated definition]. FMA:37526 hp.json base of middle phalanx of ring finger|proximal epiphysis of middle phalanx of manual digit IV|basal epiphysis of middle phalanx of fourth finger|basal epiphysis of middle phalanx of ring finger|base of middle phalanx of fourth digit of hand|proximal epiphysis of middle phalanx of ring finger|base of middle phalanx of fourth finger http://purl.obolibrary.org/obo/UBERON_0004438 UBERON:0004435 biolink:AnatomicalEntity proximal epiphysis of distal phalanx of manual digit 5 A proximal epiphysis that is part of a distal phalanx of manual digit 5 [Automatically generated definition]. FMA:37541 hp.json proximal epiphysis of distal phalanx of manual digit V|base of distal phalanx of fifth digit of hand|basal epiphysis of distal phalanx of little finger|base of distal phalanx of fifth finger|proximal epiphysis of distal phalanx of little finger|base of distal phalanx of little finger|basal epiphysis of distal phalanx of fifth finger http://purl.obolibrary.org/obo/UBERON_0004435 UBERON:0004436 biolink:AnatomicalEntity proximal epiphysis of middle phalanx of manual digit 2 A proximal epiphysis that is part of a middle phalanx of manual digit 2 [Automatically generated definition]. FMA:37502 hp.json base of middle phalanx of index finger|base of middle phalanx of second finger|proximal epiphysis of middle phalanx of index finger|basal epiphysis of middle phalanx of index finger|base of middle phalanx of second digit of hand|proximal epiphysis of middle phalanx of manual digit II http://purl.obolibrary.org/obo/UBERON_0004436 UBERON:0004433 biolink:AnatomicalEntity proximal epiphysis of distal phalanx of manual digit 3 A proximal epiphysis that is part of a distal phalanx of manual digit 3 [Automatically generated definition]. FMA:37517 hp.json base of distal phalanx of middle finger|base of distal phalanx of third digit of hand|proximal epiphysis of distal phalanx of manual digit III|base of distal phalanx of third finger|proximal epiphysis of distal phalanx of middle finger http://purl.obolibrary.org/obo/UBERON_0004433 UBERON:0004434 biolink:AnatomicalEntity proximal epiphysis of distal phalanx of manual digit 4 A proximal epiphysis that is part of a distal phalanx of manual digit 4 [Automatically generated definition]. FMA:37529 hp.json basal epiphysis of distal phalanx of fourth finger|base of distal phalanx of fourth digit of hand|basal epiphysis of distal phalanx of ring finger|proximal epiphysis of distal phalanx of ring finger|base of distal phalanx of fourth finger|proximal epiphysis of distal phalanx of manual digit IV|base of distal phalanx of ring finger http://purl.obolibrary.org/obo/UBERON_0004434 UBERON:0004431 biolink:AnatomicalEntity proximal epiphysis of fifth metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition]. FMA:42967 hp.json proximal epiphysis of metatarsal 5|base of fifth metatarsal bone|proximal end of fifth metatarsal bone http://purl.obolibrary.org/obo/UBERON_0004431 UBERON:0004432 biolink:AnatomicalEntity proximal epiphysis of distal phalanx of manual digit 2 A proximal epiphysis that is part of a distal phalanx of manual digit 2 [Automatically generated definition]. FMA:37505 hp.json base of distal phalanx of second digit of hand|base of distal phalanx of index finger|proximal epiphysis of distal phalanx of manual digit II|proximal epiphysis of distal phalanx of index finger|basal epiphysis of distal phalanx of index finger|base of distal phalanx of second finger http://purl.obolibrary.org/obo/UBERON_0004432 HP:0100369 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanx of the 3rd toe UMLS:C4022122 hp.json Absent/small outermost 3rd toe bone|Absent/underdeveloped outermost 3rd toe bone http://purl.obolibrary.org/obo/HP_0100369 HP:0100367 biolink:PhenotypicFeature Short phalanx of the 4th toe Developmental hypoplasia of one or more phalanx of fourth toe. UMLS:C4021013 hp.json Short 4th toe bone|Short phalanx of the fourth toe|Hypoplastic/small phalanges of the 4th toe http://purl.obolibrary.org/obo/HP_0100367 HP:0100368 biolink:PhenotypicFeature Short phalanx of the 5th toe Developmental hypoplasia of one or more phalanx of little toe. UMLS:C4021012 hp.json Short pinky toe bone|Short phalanx of the fifth toe|Hypoplastic/small phalanges of the 5th toe|Short pinkie toe bone|Short little toe bone http://purl.obolibrary.org/obo/HP_0100368 HP:0100366 biolink:PhenotypicFeature Short phalanx of the 3rd toe Developmental hypoplasia of the phalanx of third toe. UMLS:C4021014 hp.json Short phalanx of the third toe|Short 3rd toe bone|Hypoplastic/small phalanges of the 3rd toe http://purl.obolibrary.org/obo/HP_0100366 HP:0100363 biolink:PhenotypicFeature Aplasia of the phalanges of the 4th toe UMLS:C4022124 hp.json Absent bones of the 4th toe http://purl.obolibrary.org/obo/HP_0100363 HP:0100364 biolink:PhenotypicFeature Aplasia of the phalanges of the 5th toe UMLS:C4022123 hp.json Absent little toe bones|Absent pinky toe bones|Absent pinkie toe bones http://purl.obolibrary.org/obo/HP_0100364 GO:0007599 biolink:BiologicalProcess hemostasis The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. Wikipedia:Hemostasis hp.json http://purl.obolibrary.org/obo/GO_0007599 HP:0100362 biolink:PhenotypicFeature Aplasia of the phalanges of the 3rd toe UMLS:C4022125 hp.json Absent digital bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100362 GO:0007598 biolink:BiologicalProcess blood coagulation, extrinsic pathway A protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. hp.json http://purl.obolibrary.org/obo/GO_0007598 GO:0007597 biolink:BiologicalProcess blood coagulation, intrinsic pathway A protein activation cascade that contributes to blood coagulation and consists of the interactions among high molecular weight kininogen, prekallikrein, and factor XII that lead to the activation of clotting factor X. hp.json http://purl.obolibrary.org/obo/GO_0007597 HP:0100360 biolink:PhenotypicFeature Upper-limb joint contracture A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. UMLS:C2750635 hp.json Contractures of the joints of the upper limbs http://purl.obolibrary.org/obo/HP_0100360 GO:0007596 biolink:BiologicalProcess blood coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. Wikipedia:Coagulation hp.json blood clotting http://purl.obolibrary.org/obo/GO_0007596 GO:0007595 biolink:NamedThing lactation hp.json http://purl.obolibrary.org/obo/GO_0007595 HP:0100378 biolink:PhenotypicFeature Absent distal phalanx of the 3rd toe Developmental aplasia of the distal phalanx of third toe. UMLS:C4021011 hp.json Absent outermost bone of the 3rd toe|Aplasia of the distal phalanx of the 3rd toe|Absent distal phalanx of the third toe http://purl.obolibrary.org/obo/HP_0100378 HP:0100379 biolink:PhenotypicFeature Aplasia of the distal phalanx of the 4th toe UMLS:C4022113 hp.json Absent distal phalanx of the 4th toe|Absent outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100379 HP:0100376 biolink:PhenotypicFeature Aplasia/hypoplasia of the proximal phalanx of the 4th toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe. UMLS:C4022115 hp.json Absent/small innermost 4th toe bone|Absent/underdeveloped innermost 4th toe bone http://purl.obolibrary.org/obo/HP_0100376 HP:0100377 biolink:PhenotypicFeature Aplasia/hypoplasia of the proximal phalanx of the 5th toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe. UMLS:C4022114 hp.json Absent/small innermost pinkie toe bone|Absent/small innermost little toe bone|Absent/underdeveloped innermost 5th toe bone|Absent/small innermost pinky toe bone http://purl.obolibrary.org/obo/HP_0100377 HP:0100374 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle phalanx of the 5th toe UMLS:C4022117 hp.json Absent/underdeveloped middle bone of little toe|Absent/underdeveloped middle bone of pinkie toe|Absent/small middle 5th toe bone|Absent/underdeveloped middle bone of pinky toe http://purl.obolibrary.org/obo/HP_0100374 HP:0100375 biolink:PhenotypicFeature Aplasia/hypoplasia of the proximal phalanx of the 3rd toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe. UMLS:C4022116 hp.json Absent/underdeveloped innermost bone of 3rd toe|Absent/small innermost bone of 3rd toe http://purl.obolibrary.org/obo/HP_0100375 HP:0100372 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle phalanx of the 3rd toe UMLS:C4022119 hp.json Absent/small middle 3rd toe bone|Absent/underdeveloped middle 3rd toe bone http://purl.obolibrary.org/obo/HP_0100372 HP:0100373 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle phalanx of the 4th toe UMLS:C4022118 hp.json Absent/underdeveloped middle bone of the 4th toe|Absent/small middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100373 HP:0100370 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanx of the 4th toe UMLS:C4022121 hp.json Absent/small outermost bone of 4th toe|Absent/underdeveloped outermost bone of 4th toe http://purl.obolibrary.org/obo/HP_0100370 HP:0100371 biolink:PhenotypicFeature Aplasia/Hypoplasia of the distal phalanx of the 5th toe UMLS:C4022120 hp.json Absent/small outermost pinkie toe bone|Absent/small outermost little toe bone|Absent/underdeveloped outermost pinky toe bone|Absent/small outermost pinky toe bone http://purl.obolibrary.org/obo/HP_0100371 PR:000018263 biolink:Protein amino acid chain An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. hp.json polypeptide|peptide http://purl.obolibrary.org/obo/PR_000018263 PR:000018264 biolink:Protein proteolytic cleavage product A protein that is produced as the result of proteolytic processing of a longer protein. hp.json ClvPrd|polypeptide|peptide http://purl.obolibrary.org/obo/PR_000018264 HP:0100389 biolink:PhenotypicFeature Short distal phalanx of the 3rd toe Developmental hypoplasia of the distal phalanx of third toe. UMLS:C4021008 hp.json Short distal phalanx of the third toe|Hypoplastic/small distal phalanx of the 3rd toe|Short outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100389 HP:0100387 biolink:PhenotypicFeature Aplasia of the middle phalanges of the toes UMLS:C4022107 hp.json Absent middle toe bones http://purl.obolibrary.org/obo/HP_0100387 HP:0100388 biolink:PhenotypicFeature Aplasia of the proximal phalanges of the toes UMLS:C4022106 hp.json Absent innermost toe bones http://purl.obolibrary.org/obo/HP_0100388 HP:0100385 biolink:PhenotypicFeature Aplasia of the proximal phalanx of the 4th toe UMLS:C4022109 hp.json Absent innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100385 HP:0100386 biolink:PhenotypicFeature Aplasia of the proximal phalanx of the 5th toe UMLS:C4022108 hp.json Absent innermost bone of the pinkie toe|Absent innermost bone of the pinky toe|Absent innermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100386 GO:0044566 biolink:BiologicalProcess chondrocyte activation A change in the morphology or behavior of a chondrocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. A chondrocyte is a polymorphic cell that forms cartilage. hp.json http://purl.obolibrary.org/obo/GO_0044566 HP:0100383 biolink:PhenotypicFeature Aplasia of the middle phalanx of the 5th toe UMLS:C4022110 hp.json Absent middle bone of little toe|Absent middle bone of pinkie toe|Absent middle bone of pinky toe http://purl.obolibrary.org/obo/HP_0100383 HP:0100384 biolink:PhenotypicFeature Absent proximal phalanx of the 3rd toe Absence of proximal phalanx of third toe, owing to a congenital defect of development. UMLS:C4021009 hp.json Absent innermost bone of the 3rd toe|Aplasia of the proximal phalanx of the 3rd toe http://purl.obolibrary.org/obo/HP_0100384 HP:0100381 biolink:PhenotypicFeature Absent middle phalanx of the 3rd toe Developmental aplasia of the middle phalanx of third toe. UMLS:C4021010 hp.json Aplasia of the middle phalanx of the 3rd toe|Absent middle bone of the 3rd toe|Absent middle phalanx of the third toe http://purl.obolibrary.org/obo/HP_0100381 HP:0100382 biolink:PhenotypicFeature Aplasia of the middle phalanx of the 4th toe UMLS:C4022111 hp.json Absent middle bone of 4th toe http://purl.obolibrary.org/obo/HP_0100382 GO:0044565 biolink:BiologicalProcess dendritic cell proliferation The expansion of a dendritic cell population by cell division. A dendritic cell is a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. hp.json http://purl.obolibrary.org/obo/GO_0044565 HP:0100380 biolink:PhenotypicFeature Aplasia of the distal phalanx of the 5th toe UMLS:C4022112 hp.json Absent outermost bone of the pinkie toe|Absent outermost bone of the pinky toe|Absent outermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100380 NCBITaxon:2605435 biolink:OrganismalEntity Evosea GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_2605435 NCBITaxon:8287 biolink:OrganismalEntity Sarcopterygii GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_8287 HP:0100398 biolink:PhenotypicFeature Duplication of the distal phalanx of the 3rd toe Partial or complete duplication of distal phalanx of third toe. UMLS:C4020999 hp.json Duplication of the distal phalanx of the third toe|Duplication of the outermost bone of the 3rd toe|Partial/complete duplication of the distal phalanx of the 3rd toe http://purl.obolibrary.org/obo/HP_0100398 HP:0100399 biolink:PhenotypicFeature Duplication of the distal phalanx of the 4th toe Partial or complete duplication of the distal phalanx of fourth toe. UMLS:C4020998 hp.json Duplication of the distal phalanx of the fourth toe|Duplication of the outermost bone of the 4th toe|Partial/complete duplication of the distal phalanx of the 4th toe http://purl.obolibrary.org/obo/HP_0100399 HP:0100396 biolink:PhenotypicFeature Short proximal phalanx of the 4th toe Developmental hypoplasia of the proximal phalanx of fourth toe. UMLS:C4021001 hp.json Short fourth toe proximal phalanx|Short proximal phalanx of the fourth toe|Hypoplastic/small proximal phalanx of the 4th toe http://purl.obolibrary.org/obo/HP_0100396 HP:0100397 biolink:PhenotypicFeature Short proximal phalanx of the 5th toe Developmental hypoplasia of the proximal phalanx of fifth toe. UMLS:C4021000 hp.json Short innermost bone of pinky toe|Short innermost bone of pinkie toe|Short proximal phalanx of the fifth toe|Hypoplastic/small proximal phalanx of the 5th toe|Short innermost bone of little toe http://purl.obolibrary.org/obo/HP_0100397 GO:0007589 biolink:BiologicalProcess body fluid secretion The controlled release of a fluid by a cell or tissue in an animal. hp.json http://purl.obolibrary.org/obo/GO_0007589 HP:0100394 biolink:PhenotypicFeature Short middle phalanx of the 5th toe Developmental hypoplasia of the middle phalanx of the 5th toe. UMLS:C4021003 hp.json Short middle bone of little toe|Hypoplastic/small middle phalanx of the 5th toe|Short middle bone of pinkie toe|Short middle phalanx of the fifth toe|Short middle bone of pinky toe http://purl.obolibrary.org/obo/HP_0100394 GO:0007588 biolink:BiologicalProcess excretion The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. Wikipedia:Excretion hp.json http://purl.obolibrary.org/obo/GO_0007588 gocheck_do_not_annotate|goslim_pir HP:0100395 biolink:PhenotypicFeature Short proximal phalanx of the 3rd toe Abnormal reduction in length of proximal phalanx of third toe. UMLS:C4021002 hp.json Hypoplastic/small proximal phalanx of the 3rd toe|Short proximal phalanx of the third toe http://purl.obolibrary.org/obo/HP_0100395 HP:0100392 biolink:PhenotypicFeature Short middle phalanx of the 3rd toe Developmental hypoplasia of the middle phalanx of third toe. UMLS:C4021005 hp.json Short middle phalanx of the third toe|Hypoplastic/small middle phalanx of the 3rd toe http://purl.obolibrary.org/obo/HP_0100392 GO:0007586 biolink:BiologicalProcess digestion The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. Wikipedia:Digestion hp.json http://purl.obolibrary.org/obo/GO_0007586 goslim_pir|goslim_chembl HP:0100393 biolink:PhenotypicFeature Short middle phalanx of the 4th toe Developmental hypoplasia of the middle phalanx of fourth toe. UMLS:C4021004 hp.json Short middle phalanx of the fourth toe|Short middle bone of 4th toe|Hypoplastic/small middle phalanx of the 4th toe http://purl.obolibrary.org/obo/HP_0100393 GO:0007585 biolink:BiologicalProcess respiratory gaseous exchange by respiratory system The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. hp.json breathing|respiration http://purl.obolibrary.org/obo/GO_0007585 goslim_chembl HP:0100390 biolink:PhenotypicFeature Short distal phalanx of the 4th toe Developmental hypoplasia of the distal phalanx of fourth toe. UMLS:C4021007 hp.json Hypoplastic/small distal phalanx of the 4th toe|Short outermost bone of the 4th toe|Short distal phalanx of the fourth toe http://purl.obolibrary.org/obo/HP_0100390 HP:0100391 biolink:PhenotypicFeature Short distal phalanx of the 5th toe Developmental hypoplasia of the distal phalanx of little toe. UMLS:C4021006 hp.json Short distal phalanx of the fifth toe|Short outermost bone of the little toe|Hypoplastic/small distal phalanx of the 5th toe|Short outermost bone of the pinkie toe|Short outermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100391 GO:0019538 biolink:BiologicalProcess protein metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. Wikipedia:Protein_metabolism hp.json multicellular organismal protein metabolic process|cellular protein metabolic process|protein metabolic process and modification|protein metabolism and modification|cellular protein metabolism|protein metabolism http://purl.obolibrary.org/obo/GO_0019538 goslim_mouse|goslim_agr|goslim_pir|goslim_plant|goslim_flybase_ribbon UBERON:0004503 biolink:AnatomicalEntity skeletal muscle tissue of digastric A portion of skeletal muscle tissue that is part of a digastric [Automatically generated definition]. FMA:261872 hp.json http://purl.obolibrary.org/obo/UBERON_0004503 UBERON:0004504 biolink:AnatomicalEntity skeletal muscle tissue of mylohyoid A portion of skeletal muscle tissue that is part of a mylohyoid [Automatically generated definition]. FMA:261878 hp.json http://purl.obolibrary.org/obo/UBERON_0004504 UBERON:0004502 biolink:AnatomicalEntity skeletal muscle tissue of biceps brachii A portion of skeletal muscle tissue that is part of a biceps brachii [Automatically generated definition]. FMA:261974 hp.json skeletal muscle tissue of biceps brachii muscle http://purl.obolibrary.org/obo/UBERON_0004502 UBERON:0004500 biolink:AnatomicalEntity skeletal muscle tissue of deltoid A portion of skeletal muscle tissue that is part of a deltoid [Automatically generated definition]. FMA:261732 hp.json skeletal muscle tissue of deltoid muscle http://purl.obolibrary.org/obo/UBERON_0004500 GO:0032504 biolink:BiologicalProcess multicellular organism reproduction The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. hp.json http://purl.obolibrary.org/obo/GO_0032504 goslim_drosophila GO:0032502 biolink:BiologicalProcess developmental process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. hp.json single-organism developmental process|development http://purl.obolibrary.org/obo/GO_0032502 goslim_agr|goslim_pir|goslim_flybase_ribbon|goslim_aspergillus GO:0032501 biolink:BiologicalProcess multicellular organismal process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. hp.json single-multicellular organism process|organismal physiological process http://purl.obolibrary.org/obo/GO_0032501 gocheck_do_not_annotate|goslim_pir GO:0007567 biolink:BiologicalProcess parturition The reproductive process in which the parent is separated from its offspring either by giving birth to live young or by laying eggs. hp.json egg laying|giving birth http://purl.obolibrary.org/obo/GO_0007567 GO:0007566 biolink:BiologicalProcess embryo implantation Attachment of the blastocyst to the uterine lining. hp.json blastocyst implantation http://purl.obolibrary.org/obo/GO_0007566 GO:0007565 biolink:BiologicalProcess female pregnancy The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. Wikipedia:Gestation hp.json gestation|carrying of young http://purl.obolibrary.org/obo/GO_0007565 goslim_chembl GO:0007548 biolink:BiologicalProcess sex differentiation The establishment of the sex of an organism by physical differentiation. Wikipedia:Sexual_differentiation hp.json http://purl.obolibrary.org/obo/GO_0007548 OBO:uberon/core#anteriorly_connected_to biolink:NamedThing anteriorly connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. hp.json http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to OBO:uberon/core#in_innermost_side_of biolink:NamedThing in_innermost_side_of hp.json http://purl.obolibrary.org/obo/uberon/core#in_innermost_side_of HP:0002094 biolink:PhenotypicFeature Dyspnea Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. MSH:D004417|SNOMEDCT_US:267036007|UMLS:C0013404|SNOMEDCT_US:230145002 hp.json Difficulty breathing|Shortness of breath|Trouble breathing|Dyspnoea|Breathing difficulty|Panting|Abnormal breathing|Difficult to breathe http://purl.obolibrary.org/obo/HP_0002094 NBO:0000586 biolink:NamedThing opisthotonus "A form of tetanic spasm in which the head, neck and spine are bent backward and the body is bowed forward." [JAX:] hp.json http://purl.obolibrary.org/obo/NBO_0000586 HP:0002092 biolink:PhenotypicFeature Pulmonary arterial hypertension Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. SNOMEDCT_US:11399002|SNOMEDCT_US:70995007|UMLS:C2973725|SNOMEDCT_US:697898008|MSH:D006976|UMLS:C0020542|UMLS:C3203102|MSH:D065627 hp.json Increased blood pressure in blood vessels of lungs|Pulmonary artery hypertension|Primary pulmonary hypertension http://purl.obolibrary.org/obo/HP_0002092 HP:0002093 biolink:PhenotypicFeature Respiratory insufficiency UMLS:C4020855|SNOMEDCT_US:409623005|UMLS:C0035229|MSH:D012131 hp.json Respiratory function loss|Respiratory impairment http://purl.obolibrary.org/obo/HP_0002093 HP:0002098 biolink:PhenotypicFeature Respiratory distress Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. UMLS:C0476273|MSH:D004417|SNOMEDCT_US:267036007|SNOMEDCT_US:271825005|UMLS:C0013404|SNOMEDCT_US:230145002 hp.json Labored breathing|Respiratory difficulties|Breathing difficulties http://purl.obolibrary.org/obo/HP_0002098 HP:0002099 biolink:PhenotypicFeature Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. SNOMEDCT_US:991000119106|UMLS:C3714497|MSH:D001249|UMLS:C0004096|SNOMEDCT_US:195967001 hp.json Bronchial asthma|Reactive airway disease|Asthma http://purl.obolibrary.org/obo/HP_0002099 HP:0002097 biolink:PhenotypicFeature Emphysema MSH:D011656|SNOMEDCT_US:87433001|UMLS:C0034067 hp.json Pulmonary emphysema http://purl.obolibrary.org/obo/HP_0002097 NBO:0000589 biolink:NamedThing tremor "An involuntary rhythmical, oscillatory movement of a body part." [NBO:GVG] hp.json quivering|shivering|trembling http://purl.obolibrary.org/obo/NBO_0000589 NBO:0000588 biolink:NamedThing spasm "A sudden, involuntary contraction of a muscle or group of muscles." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000588 NBO:0000587 biolink:NamedThing tetanic spasm "A sudden, involuntary contraction of a muscle or group of muscles associated with strychnine poisoning and tetanus." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000587 NBO:0000591 biolink:NamedThing motor coordination phenotype "Observable characteristic of behavior related to the coordination of combinations of body movements created with the kinematic (such as spatial direction) and kinetic (force) parameters that result in intended actions." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000591 HP:0100303 biolink:PhenotypicFeature Muscle fiber cytoplasmatic inclusion bodies The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. UMLS:C4022157 hp.json Muscle fibre cytoplasmatic inclusion bodies|Muscle fibre cytoplasmic bodies|Muscle fiber cytoplasmic bodies http://purl.obolibrary.org/obo/HP_0100303 HP:0100304 biolink:PhenotypicFeature Muscle fiber intranuclear inclusion bodies The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. UMLS:C4022156 hp.json Muscle fibre intranuclear inclusion bodies http://purl.obolibrary.org/obo/HP_0100304 HP:0100301 biolink:PhenotypicFeature Muscle fiber tubular inclusions Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. UMLS:C4021024 hp.json Muscle fiber tubular aggregates|Muscle fibre tubular inclusions|Muscle fibre tubular aggregates http://purl.obolibrary.org/obo/HP_0100301 HP:0100302 biolink:PhenotypicFeature Muscle fiber tubuloreticular inclusions UMLS:C4021023 hp.json Muscle fiber tubuloreticular aggregates|Muscle fibre tubuloreticular inclusions|Muscle fibre tubuloreticular aggregates http://purl.obolibrary.org/obo/HP_0100302 HP:0100300 biolink:PhenotypicFeature Desmin bodies UMLS:C4022158 hp.json http://purl.obolibrary.org/obo/HP_0100300 HP:0002080 biolink:PhenotypicFeature Intention tremor A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). SNOMEDCT_US:30721006|MSH:D014202|UMLS:C0234376|UMLS:C4020856 hp.json Cerebellar tremor|Terminal tremor http://purl.obolibrary.org/obo/HP_0002080 HP:0002078 biolink:PhenotypicFeature Truncal ataxia Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. UMLS:C0427190|MSH:D001259|SNOMEDCT_US:250067008 hp.json Instability or lack of coordination of central trunk muscles|Trunk ataxia http://purl.obolibrary.org/obo/HP_0002078 HP:0002079 biolink:PhenotypicFeature Hypoplasia of the corpus callosum Underdevelopment of the corpus callosum. SNOMEDCT_US:204043002|UMLS:C0344482 hp.json Corpus callosum hypoplasia|Hypoplasia of corpus callosum|Hypoplastic corpus callosum|Underdevelopment of part of brain called corpus callosum http://purl.obolibrary.org/obo/HP_0002079 HP:0002072 biolink:PhenotypicFeature Chorea Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. UMLS:C4020858|SNOMEDCT_US:271700006|UMLS:C0008489|MSH:D002819 hp.json Choreiform movements|Choreatic disease|Choreic movements http://purl.obolibrary.org/obo/HP_0002072 NBO:0000564 biolink:NamedThing social behavior phenotype "Observable characteristic of behavior that occurs predominantly or only, in individuals that are part of a group." [NBO:GVG] hp.json pathological social behaviour http://purl.obolibrary.org/obo/NBO_0000564 HP:0002073 biolink:PhenotypicFeature Progressive cerebellar ataxia SNOMEDCT_US:230233000|UMLS:C0393525 hp.json Progressive ataxia|Cerebellar ataxia, progressive http://purl.obolibrary.org/obo/HP_0002073 HP:0100309 biolink:PhenotypicFeature Subdural hemorrhage Hemorrhage occurring between the dura mater and the arachnoid mater. UMLS:C0018946|SNOMEDCT_US:35486000|MSH:D006408|SNOMEDCT_US:95453001 hp.json Subdural haemorrhage|Subdural haematoma|Subdural hematoma http://purl.obolibrary.org/obo/HP_0100309 HP:0002070 biolink:PhenotypicFeature Limb ataxia A kind of ataxia that affects movements of the extremities. UMLS:C0750937|MSH:D001259 hp.json Appendicular ataxia http://purl.obolibrary.org/obo/HP_0002070 HP:0002071 biolink:PhenotypicFeature Abnormality of extrapyramidal motor function A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). MSH:D001480|UMLS:C0234133|SNOMEDCT_US:43378000|UMLS:C0015371|SNOMEDCT_US:76349003 hp.json Extrapyramidal syndrome|Extrapyramidal tract signs|Extrapyramidal signs|Extrapyramidal dysfunction|Extrapyramidal symptoms http://purl.obolibrary.org/obo/HP_0002071 HP:0002076 biolink:PhenotypicFeature Migraine Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. UMLS:C0149931|MSH:D008881|UMLS:C0744641|SNOMEDCT_US:37796009 hp.json Migraine|Migraine headaches|Migraine headache|Intermittent migraine headaches http://purl.obolibrary.org/obo/HP_0002076 HP:0100307 biolink:PhenotypicFeature Cerebellar hemisphere hypoplasia UMLS:C4022154 hp.json http://purl.obolibrary.org/obo/HP_0100307 HP:0100308 biolink:PhenotypicFeature Cerebral cortical hemiatrophy Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. UMLS:C4022153 hp.json http://purl.obolibrary.org/obo/HP_0100308 HP:0002077 biolink:PhenotypicFeature Migraine with aura A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. SNOMEDCT_US:4473006|MSH:D020325|UMLS:C0154723 hp.json http://purl.obolibrary.org/obo/HP_0002077 HP:0002074 biolink:PhenotypicFeature Increased neuronal autofluorescent lipopigment Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. UMLS:C4020857|UMLS:C4025728 hp.json Neuronal lipopigments http://purl.obolibrary.org/obo/HP_0002074 HP:0100305 biolink:PhenotypicFeature Ring fibers Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation. SNOMEDCT_US:47913008|UMLS:C0333770 hp.json Ring fibres http://purl.obolibrary.org/obo/HP_0100305 HP:0002075 biolink:PhenotypicFeature Dysdiadochokinesis A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. SNOMEDCT_US:23133003|UMLS:C0234979 hp.json Dysdiadochokinesia|Difficulty performing quick and alternating movements http://purl.obolibrary.org/obo/HP_0002075 HP:0100306 biolink:PhenotypicFeature Muscle fiber hyaline bodies UMLS:C4022155 hp.json Muscle fibre hyaline bodies http://purl.obolibrary.org/obo/HP_0100306 HP:0100314 biolink:PhenotypicFeature Cerebral inclusion bodies Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. UMLS:C4022149 hp.json http://purl.obolibrary.org/obo/HP_0100314 HP:0100315 biolink:PhenotypicFeature Lewy bodies MSH:D016631|UMLS:C0752347|SNOMEDCT_US:312991009|MSH:D020961|SNOMEDCT_US:43127003|SNOMEDCT_US:80098002|UMLS:C0085200 hp.json Lewy body disease http://purl.obolibrary.org/obo/HP_0100315 HP:0100312 biolink:PhenotypicFeature Cerebral germinoma The presence of a germ cell tumor of the cerebrum. UMLS:C4022151|NCIT:C3708 hp.json http://purl.obolibrary.org/obo/HP_0100312 HP:0100313 biolink:PhenotypicFeature Cerebral granulomatosis Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. UMLS:C4022150 hp.json http://purl.obolibrary.org/obo/HP_0100313 HP:0100310 biolink:PhenotypicFeature Epidural hemorrhage Hemorrhage occurring between the dura mater and the skull. SNOMEDCT_US:82999001|SNOMEDCT_US:428268007|UMLS:C0238154|MSH:D006407 hp.json Extradural haematoma|Extradural hematoma|Epidural haemorrhage|Epidural hematoma|Epidural haematoma http://purl.obolibrary.org/obo/HP_0100310 NBO:0000568 biolink:NamedThing kinesthetic behavior phenotype "Observable characteristic of behavior related to the movement of the body's muscles, tendons, and joints." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000568 HP:0002090 biolink:PhenotypicFeature Pneumonia Inflammation of any part of the lung parenchyma. MSH:D011014|SNOMEDCT_US:233604007|UMLS:C0032285 hp.json Pneumonia http://purl.obolibrary.org/obo/HP_0002090 NBO:0000567 biolink:NamedThing stereotypic behavior "A pathological behavior associated with repetitive or ritualistic movement, posture, or utterance." [wikipedia:Stereotypy] hp.json stereotypic behaviour|stereotypy http://purl.obolibrary.org/obo/NBO_0000567 HP:0100311 biolink:PhenotypicFeature Cerebral ventricular adhesions Bands of scar-like tisssue that hve formed within a cerebral ventricle. UMLS:C4022152 hp.json http://purl.obolibrary.org/obo/HP_0100311 HP:0002091 biolink:PhenotypicFeature Restrictive ventilatory defect A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. UMLS:C3277226|SNOMEDCT_US:36485005|UMLS:C0085581 hp.json Spirometric restriction|Restrictive lung disease|Restrictive respiratory disease|Restrictive respiratory insufficiency|Stiff lung or chest wall causing decreased lung volume|Restrictive deficit on pulmonary function tests|Restrictive deficit on pulmonary function testing|Restrictive respiratory syndrome http://purl.obolibrary.org/obo/HP_0002091 HP:0002089 biolink:PhenotypicFeature Pulmonary hypoplasia UMLS:C0265783|SNOMEDCT_US:80825009 hp.json Underdeveloped lung|Small lung|Lung hypoplasia|Poorly developed lungs|Hypoplastic lung|Hypoplastic lungs http://purl.obolibrary.org/obo/HP_0002089 HP:0002083 biolink:PhenotypicFeature Migraine without aura Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. MSH:D020326|SNOMEDCT_US:56097005|UMLS:C0338480 hp.json http://purl.obolibrary.org/obo/HP_0002083 HP:0002084 biolink:PhenotypicFeature Encephalocele A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. SNOMEDCT_US:48777005|UMLS:C0014065|SNOMEDCT_US:55999004|SNOMEDCT_US:253101008|MSH:D004677 hp.json Bifid skull|Cranium bifidum http://purl.obolibrary.org/obo/HP_0002084 HP:0002087 biolink:PhenotypicFeature Abnormality of the upper respiratory tract An abnormality of the upper respiratory tract. UMLS:C4025727 hp.json Abnormality of the upper respiratory tract|Upper respiratory tract issues http://purl.obolibrary.org/obo/HP_0002087 HP:0100318 biolink:PhenotypicFeature Lafora bodies An intraneuronal inclusion body composed of acid mucopolysaccharides. SNOMEDCT_US:87554006|UMLS:C0333749 hp.json http://purl.obolibrary.org/obo/HP_0100318 HP:0002088 biolink:PhenotypicFeature Abnormal lung morphology Any structural anomaly of the lung. SNOMEDCT_US:19829001|MSH:D008171|UMLS:C4021760|UMLS:C0024115 hp.json Abnormally shaped lung|Abnormality of lung structure|Abnormality of the lungs|Unusal lung shape|Lung disease http://purl.obolibrary.org/obo/HP_0002088 HP:0100319 biolink:PhenotypicFeature Cerebral hyaline bodies Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance. UMLS:C4021021 hp.json Cerebral colloid bodies http://purl.obolibrary.org/obo/HP_0100319 HP:0002085 biolink:PhenotypicFeature Occipital encephalocele A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. SNOMEDCT_US:42376006|UMLS:C0014067|MSH:D004677 hp.json Brain tissue sticks out through back of skull|Occipital meningoencephalocele|Posterior encephalocele http://purl.obolibrary.org/obo/HP_0002085 HP:0100316 biolink:PhenotypicFeature Hirano bodies Intracellular aggregates of actin and actin-associated proteins within nerve cells. UMLS:C0521178|SNOMEDCT_US:57458003 hp.json http://purl.obolibrary.org/obo/HP_0100316 HP:0100317 biolink:PhenotypicFeature Argyrophilic inclusion bodies Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue. UMLS:C4021022 hp.json Agyrophilic inclusion bodies|Pick inclusion bodies http://purl.obolibrary.org/obo/HP_0100317 HP:0002086 biolink:PhenotypicFeature Abnormality of the respiratory system An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. UMLS:C4018871 hp.json Respiratory abnormality http://purl.obolibrary.org/obo/HP_0002086 HP:0100326 biolink:PhenotypicFeature Immunologic hypersensitivity Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. UMLS:C0237653 hp.json http://purl.obolibrary.org/obo/HP_0100326 HP:0100323 biolink:PhenotypicFeature Juvenile aseptic necrosis Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers. UMLS:C4020710|UMLS:C4022146 hp.json Aseptic epiphyseal necrosis http://purl.obolibrary.org/obo/HP_0100323 HP:0100324 biolink:PhenotypicFeature Scleroderma A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. UMLS:C1274865|SNOMEDCT_US:89155008|UMLS:C0011644|SNOMEDCT_US:403524003|MSH:D012594 hp.json Pseudoscleroderma|Progressive systemic scleroderma http://purl.obolibrary.org/obo/HP_0100324 HP:0100321 biolink:PhenotypicFeature Abnormal dentate nucleus morphology An abnormality of the dentate nucleus. UMLS:C4022148 hp.json Abnormality of the dentate nucleus http://purl.obolibrary.org/obo/HP_0100321 HP:0100322 biolink:PhenotypicFeature Aplasia of the pyramidal tract UMLS:C4022147 hp.json Absent pyramidal tract http://purl.obolibrary.org/obo/HP_0100322 HP:0100320 biolink:PhenotypicFeature Rosenthal fibers Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders. SNOMEDCT_US:84605001|UMLS:C0333731 hp.json Rosenthal fibres http://purl.obolibrary.org/obo/HP_0100320 NCBITaxon:32525 biolink:OrganismalEntity Theria GC_ID:1 hp.json Theria http://purl.obolibrary.org/obo/NCBITaxon_32525 NCBITaxon:32524 biolink:OrganismalEntity Amniota GC_ID:1 hp.json amniotes http://purl.obolibrary.org/obo/NCBITaxon_32524 NCBITaxon:32523 biolink:OrganismalEntity Tetrapoda GC_ID:1 hp.json tetrapods http://purl.obolibrary.org/obo/NCBITaxon_32523 HP:0100329 biolink:PhenotypicFeature Tarsometatarsal synostosis UMLS:C4022144 hp.json Fused bones of the midfoot http://purl.obolibrary.org/obo/HP_0100329 GO:0032594 biolink:BiologicalProcess protein transport within lipid bilayer The directed movement of a protein from one location to another within a lipid bilayer. hp.json protein translocation within membrane|receptor translocation within membrane|receptor transport within lipid bilayer http://purl.obolibrary.org/obo/GO_0032594 HP:0100327 biolink:PhenotypicFeature Cow milk allergy Hypersensitivity in form of an adverse immune reaction against cow milk protein. SNOMEDCT_US:15911003|UMLS:C0266815 hp.json IgE-mediated cow milk allergy|Immunoglobulin E-mediated cow milk allergy|Cow milk allergy|Milk allergy http://purl.obolibrary.org/obo/HP_0100327 HP:0100328 biolink:PhenotypicFeature Carpometacarpal synostosis Fusion involving carpal and metacarpal bones. UMLS:C4022145 hp.json Fused wrist bones and long bones of hand http://purl.obolibrary.org/obo/HP_0100328 HP:0100336 biolink:PhenotypicFeature Bilateral cleft lip A non-midline cleft of the upper lip on the left and right sides. SNOMEDCT_US:304068004|UMLS:C0392005 hp.json Bilateral cheiloschisis|Right and left cleft lip|Both sided cleft lip http://purl.obolibrary.org/obo/HP_0100336 hposlim_core HP:0100337 biolink:PhenotypicFeature Bilateral cleft palate Nonmidline cleft palate on the left and right sides. UMLS:C3553084 hp.json Bilateral palatoschisis|Right and left cleft palate http://purl.obolibrary.org/obo/HP_0100337 hposlim_core HP:0100334 biolink:PhenotypicFeature Unilateral cleft palate UMLS:C4022143 hp.json One sided cleft palate|Unilateral palatoschisis http://purl.obolibrary.org/obo/HP_0100334 HP:0100335 biolink:PhenotypicFeature Non-midline cleft lip Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. UMLS:C4021020 hp.json Paramedian cleft of the upper lip|Non-midline cleft of the upper lip http://purl.obolibrary.org/obo/HP_0100335 HP:0100333 biolink:PhenotypicFeature Unilateral cleft lip A non-midline cleft of the upper lip on one side only. UMLS:C0392006|SNOMEDCT_US:304067009 hp.json Unilateral cleft upper lip|Unilateral cheiloschisis|One sided cleft upper lip http://purl.obolibrary.org/obo/HP_0100333 GO:0032589 biolink:CellularComponent neuron projection membrane The portion of the plasma membrane surrounding a neuron projection. hp.json http://purl.obolibrary.org/obo/GO_0032589 HP:0100338 biolink:PhenotypicFeature Non-midline cleft palate UMLS:C4022142 hp.json Paramedian cleft palate http://purl.obolibrary.org/obo/HP_0100338 HP:0100339 biolink:PhenotypicFeature Abnormality of the os naviculare pedis UMLS:C4022141 hp.json http://purl.obolibrary.org/obo/HP_0100339 HP:0100347 biolink:PhenotypicFeature Tibial deviation of the 5th toe UMLS:C4022133 hp.json http://purl.obolibrary.org/obo/HP_0100347 HP:0100348 biolink:PhenotypicFeature Contracture of the proximal interphalangeal joint of the 2nd toe The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. UMLS:C4021019 hp.json Camptodactyly of the second toe|Camptodactyly of the 2nd toe http://purl.obolibrary.org/obo/HP_0100348 HP:0100345 biolink:PhenotypicFeature Tibial deviation of the 2nd toe UMLS:C4022135 hp.json http://purl.obolibrary.org/obo/HP_0100345 HP:0100346 biolink:PhenotypicFeature Fibular deviation of the 5th toe UMLS:C4022134 hp.json http://purl.obolibrary.org/obo/HP_0100346 HP:0100343 biolink:PhenotypicFeature Tibial deviation of the 3rd toe UMLS:C4022137 hp.json http://purl.obolibrary.org/obo/HP_0100343 HP:0100344 biolink:PhenotypicFeature Fibular deviation of the 2nd toe UMLS:C4022136 hp.json http://purl.obolibrary.org/obo/HP_0100344 HP:0100341 biolink:PhenotypicFeature Tibial deviation of the 4th toe UMLS:C4022139 hp.json http://purl.obolibrary.org/obo/HP_0100341 NBO:0000598 biolink:NamedThing dystonia "A locomotory disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures." [wikipedia:Dystonia] hp.json http://purl.obolibrary.org/obo/NBO_0000598 HP:0100342 biolink:PhenotypicFeature Fibular deviation of the 3rd toe UMLS:C4022138 hp.json http://purl.obolibrary.org/obo/HP_0100342 HP:0100340 biolink:PhenotypicFeature Fibular deviation of the 4th toe UMLS:C4022140 hp.json http://purl.obolibrary.org/obo/HP_0100340 CHEBI:176843 biolink:ChemicalSubstance vitamin B12 Any member of a group of cobalamin vitamers that exhibit biological activity against vitamin B12 deficiency. Vitamin B12 deficiency is associated with low red blood cell count and anemia. The vitamers are found in foods such as cereals, meat, fish, and poultry. The vitamers include adenosylcobalamin, hydroxocobalamin, cyanocobalamin, aquacobalamin, nitritocobalamin and methylcobabalamin (also includes their ionized, salt and phosphate derivatives). hp.json vitamins B12|vitamin B12 vitamers|vitamin B12 vitamer|vitamin B12|vitamin B-12 http://purl.obolibrary.org/obo/CHEBI_176843 3_STAR CHEBI:176842 biolink:ChemicalSubstance vitamin B9 Any B-vitamin that exhibits biological activity against vitamin B9 deficiency. Vitamin B9 refers to the many forms of folic acid and its derivatives, including tetrahydrofolic acid (the active form), methyltetrahydrofolate (the primary form found in blood), methenyltetrahydrofolate, folinic acid amongst others. They are present in abundance in green leafy vegetables, citrus fruits, and animal products. Lack of vitamin B9 leads to anemia, a condition in which the body cannot produce sufficient number of red blood cells. Symptoms of vitamin B9 deficiency include fatigue, muscle weakness, and pale skin. hp.json vitamins B9|vitamin B9 vitamers|vitamin B-9|vitamin B9 vitamer|vitamin B9|folate vitamers|folate vitamer http://purl.obolibrary.org/obo/CHEBI_176842 3_STAR HP:0100349 biolink:PhenotypicFeature Contracture of the proximal interphalangeal joint of the 3rd toe The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. UMLS:C4021018 hp.json Camptodactyly of the 3rd toe http://purl.obolibrary.org/obo/HP_0100349 HP:0100358 biolink:PhenotypicFeature Contracture of the metatarsophalangeal joint of the 4th toe The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively. UMLS:C4022127 hp.json http://purl.obolibrary.org/obo/HP_0100358 HP:0100359 biolink:PhenotypicFeature Contracture of the metatarsophalangeal joint of the 5th toe The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively. UMLS:C4022126 hp.json http://purl.obolibrary.org/obo/HP_0100359 HP:0100356 biolink:PhenotypicFeature Contracture of the metatarsophalangeal joint of the 2nd toe The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively. UMLS:C4022129 hp.json http://purl.obolibrary.org/obo/HP_0100356 HP:0100357 biolink:PhenotypicFeature Contracture of the metatarsophalangeal joint of the 3rd toe The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively. UMLS:C4022128 hp.json http://purl.obolibrary.org/obo/HP_0100357 HP:0100354 biolink:PhenotypicFeature Contracture of the distal interphalangeal joint of the 4th toe The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively. UMLS:C4022131 hp.json http://purl.obolibrary.org/obo/HP_0100354 HP:0100355 biolink:PhenotypicFeature Contractures of the distal interphalangeal joint of the 5th toe The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively. UMLS:C4022130 hp.json Contracture of the outermost hinge joint of the 5th toe http://purl.obolibrary.org/obo/HP_0100355 HP:0100352 biolink:PhenotypicFeature Contracture of the distal interphalangeal joint of the 2nd toe The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. UMLS:C4021015 hp.json Contracture of the distal interphalangeal joint of the second toe http://purl.obolibrary.org/obo/HP_0100352 HP:0100353 biolink:PhenotypicFeature Contracture of the distal interphalangeal joint of the 3rd toe The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. UMLS:C4022132 hp.json http://purl.obolibrary.org/obo/HP_0100353 HP:0100350 biolink:PhenotypicFeature Contracture of the proximal interphalangeal joint of the 4th toe The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively. UMLS:C4021017 hp.json Contracture of the innermost hinge joint of the 4th toe|Camptodactyly of the 4th toe|Camptodactyly of the fourth toe http://purl.obolibrary.org/obo/HP_0100350 HP:0100351 biolink:PhenotypicFeature Contractures of the proximal interphalangeal joint of the 5th toe The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively. UMLS:C4021016 hp.json Camptodactyly of the 5th toe|Camptodactyly of the fifth toe http://purl.obolibrary.org/obo/HP_0100351 PR:000008894 biolink:Protein iduronate 2-sulfatase A protein that is a translation product of the human IDS gene or a 1:1 ortholog thereof. hp.json idursulfase|SIDS|IDS|alpha-L-iduronate sulfate sulfatase http://purl.obolibrary.org/obo/PR_000008894 CHEBI:33515 biolink:ChemicalSubstance transition element cation hp.json transition metal cation|transition element cations http://purl.obolibrary.org/obo/CHEBI_33515 3_STAR HP:0002014 biolink:PhenotypicFeature Diarrhea Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. SNOMEDCT_US:62315008|MSH:D003967|UMLS:C0011991|SNOMEDCT_US:267060006 hp.json Watery stool|Diarrhoea|Diarrhea http://purl.obolibrary.org/obo/HP_0002014 HP:0002015 biolink:PhenotypicFeature Dysphagia Difficulty in swallowing. SNOMEDCT_US:40739000|SNOMEDCT_US:288939007|MEDDRA:10013950|UMLS:C0011168|MSH:D003680 hp.json Swallowing difficulty|Deglutition disorder|Swallowing difficulties|Difficulty swallowing|Poor swallowing http://purl.obolibrary.org/obo/HP_0002015 hposlim_core HP:0004676 biolink:PhenotypicFeature Prominent supraorbital arches in adult UMLS:C1834993 hp.json http://purl.obolibrary.org/obo/HP_0004676 HP:0002012 biolink:PhenotypicFeature Abnormality of the abdominal organs An abnormality of the viscera of the abdomen. UMLS:C4021764 hp.json Abnormality of the abdominal organs|Gastrointestinal tract defects http://purl.obolibrary.org/obo/HP_0002012 HP:0002013 biolink:PhenotypicFeature Vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. SNOMEDCT_US:422400008|MEDDRA:10047700|UMLS:C0042963|SNOMEDCT_US:300359004|SNOMEDCT_US:249497008|MSH:D014839 hp.json Throwing up|Emesis|Vomiting http://purl.obolibrary.org/obo/HP_0002013 hposlim_core HP:0002018 biolink:PhenotypicFeature Nausea A sensation of unease in the stomach together with an urge to vomit. MEDDRA:10028813|UMLS:C0027497|SNOMEDCT_US:422587007|MSH:D009325 hp.json Nausea http://purl.obolibrary.org/obo/HP_0002018 hposlim_core HP:0002019 biolink:PhenotypicFeature Constipation Infrequent or difficult evacuation of feces. SNOMEDCT_US:225595004|SNOMEDCT_US:14760008|MSH:D003248|UMLS:C0009806|UMLS:C0237326 hp.json Costiveness|Constipation|Dyschezia http://purl.obolibrary.org/obo/HP_0002019 HP:0004679 biolink:PhenotypicFeature Large tarsal bones UMLS:C1859116 hp.json Large ankle bones http://purl.obolibrary.org/obo/HP_0004679 HP:0002017 biolink:PhenotypicFeature Nausea and vomiting Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. UMLS:C0027498|SNOMEDCT_US:16932000 hp.json Nausea and vomiting http://purl.obolibrary.org/obo/HP_0002017 HP:0002010 biolink:PhenotypicFeature Narrow maxilla UMLS:C1851835 hp.json Decreased width of upper jaw bones|Transverse hypoplasia of maxilla|Narrow upper jaw bones|Transverse maxillary deficiency|Decreased width of maxilla|Transverse maxillary insufficiency|Decreased transverse dimension of maxilla|Decreased breadth of upper jaw bones http://purl.obolibrary.org/obo/HP_0002010 HP:0004673 biolink:PhenotypicFeature Decreased facial expression A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. UMLS:C1862474 hp.json Decreased facial expression http://purl.obolibrary.org/obo/HP_0004673 HP:0002011 biolink:PhenotypicFeature Morphological central nervous system abnormality A structural abnormality of the central nervous system. UMLS:C4021765|SNOMEDCT_US:23853001|UMLS:C0007682|MSH:D002493 hp.json Morphological abnormality of the CNS|Central nervous system disease|Morphological abnormality of the central nervous system|Abnormality of the central nervous system http://purl.obolibrary.org/obo/HP_0002011 NCBITaxon:32561 biolink:OrganismalEntity Sauria GC_ID:1 hp.json Diapsida|diapsids http://purl.obolibrary.org/obo/NCBITaxon_32561 HP:0004688 biolink:PhenotypicFeature Irregular tarsal bones UMLS:C1855240 hp.json Abnormal shape of ankle bones http://purl.obolibrary.org/obo/HP_0004688 HP:0002025 biolink:PhenotypicFeature Anal stenosis Abnormal narrowing of the anal opening. SNOMEDCT_US:69914001|MEDDRA:10002176|UMLS:C0262374|SNOMEDCT_US:250037002 hp.json Narrowing of anal opening http://purl.obolibrary.org/obo/HP_0002025 hposlim_core HP:0002023 biolink:PhenotypicFeature Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Fyler:4443|SNOMEDCT_US:204731006|MSH:D001006|MEDDRA:10002120|UMLS:C0003466|SNOMEDCT_US:204712000|Fyler:4402 hp.json Imperforate anus|Absent anus http://purl.obolibrary.org/obo/HP_0002023 hposlim_core HP:0004686 biolink:PhenotypicFeature Short third metatarsal Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone. UMLS:C4021650 hp.json Hypoplasia of the 3rd metatarsal bone|Short 3rd long bone of foot http://purl.obolibrary.org/obo/HP_0004686 HP:0002024 biolink:PhenotypicFeature Malabsorption Impaired ability to absorb one or more nutrients from the intestine. UMLS:C3714745 hp.json Intestinal malabsorption|Malabsorption http://purl.obolibrary.org/obo/HP_0002024 CHEBI:33521 biolink:ChemicalSubstance metal atom An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity. KEGG:C00050|PMID:21784043|Wikipedia:Metal hp.json metals|elemental metals|metal element|metal elements|elemental metal http://purl.obolibrary.org/obo/CHEBI_33521 3_STAR HP:0002027 biolink:PhenotypicFeature Abdominal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. UMLS:C0000737|MEDDRA:10000081|SNOMEDCT_US:21522001|MSH:D015746 hp.json Upset stomach|Gastrointestinal pain|Abdominal discomfort|Pain in stomach|Stomach pain|Abdominal pain|Gastro pain http://purl.obolibrary.org/obo/HP_0002027 hposlim_core HP:0002028 biolink:PhenotypicFeature Chronic diarrhea The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. UMLS:C0401151|SNOMEDCT_US:236071009 hp.json Diarrhea, recurrent|Chronic diarrhoea|Recurrent diarrhoea|Recurrent diarrhea|Chronic diarrhea http://purl.obolibrary.org/obo/HP_0002028 HP:0004689 biolink:PhenotypicFeature Short fourth metatarsal Short fourth metatarsal bone. UMLS:C1848514 hp.json Short fourth metatarsus|Short fourth metatarsals|Short 4th long bone of foot|Bilateral fourth metatarsal shortening http://purl.obolibrary.org/obo/HP_0004689 HP:0004684 biolink:PhenotypicFeature Talipes valgus Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. UMLS:C0152236|SNOMEDCT_US:79807003 hp.json http://purl.obolibrary.org/obo/HP_0004684 HP:0002021 biolink:PhenotypicFeature Pyloric stenosis Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. MSH:D011707|SNOMEDCT_US:367403001|MEDDRA:10037621|Fyler:4444|UMLS:C0034194 hp.json Infantile hypertrophic pyloric stenosis|Pylorus stenosis http://purl.obolibrary.org/obo/HP_0002021 hposlim_core HP:0004681 biolink:PhenotypicFeature Deep longitudinal plantar crease Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. UMLS:C1859223|UMLS:C4280508 hp.json Foot crease|Longitudinal groove on soles http://purl.obolibrary.org/obo/HP_0004681 hposlim_core HP:0002020 biolink:PhenotypicFeature Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. SNOMEDCT_US:698065002|MSH:D005764|UMLS:C0018834|MSH:D006356|SNOMEDCT_US:16331000|SNOMEDCT_US:235595009|UMLS:C0017168 hp.json Gastro-oesophageal reflux|Acid reflux disease|Heartburn|Gastroesophageal reflux disease|Gastro-esophageal reflux|GERD|Acid reflux http://purl.obolibrary.org/obo/HP_0002020 hposlim_core GO:0140241 biolink:BiologicalProcess translation at synapse Translation that occurs at the synapse. hp.json http://purl.obolibrary.org/obo/GO_0140241 goslim_synapse GO:0140243 biolink:BiologicalProcess regulation of translation at synapse Any process that regulates translation occurring at the synapse. hp.json http://purl.obolibrary.org/obo/GO_0140243 goslim_synapse GO:0140242 biolink:BiologicalProcess translation at postsynapse Translation that occurs at the postsynapse. hp.json http://purl.obolibrary.org/obo/GO_0140242 goslim_synapse GO:0140245 biolink:BiologicalProcess regulation of translation at postsynapse Any process that regulates translation occurring at the postsynapse. hp.json http://purl.obolibrary.org/obo/GO_0140245 goslim_synapse GO:0140244 biolink:BiologicalProcess regulation of translation at presynapse Any process that regulates translation occurring at the presynapse. hp.json http://purl.obolibrary.org/obo/GO_0140244 goslim_synapse UBERON:0016570 biolink:AnatomicalEntity lamina of gray matter of spinal cord http://neurolex.org/wiki/Category:Rexed_spinal_cord_parcellation_scheme_region|Wikipedia:Rexed_laminae|FMA:68861 hp.json rexed lamina http://purl.obolibrary.org/obo/UBERON_0016570 GO:0140236 biolink:BiologicalProcess translation at presynapse Translation that occurs at the presynapse. hp.json http://purl.obolibrary.org/obo/GO_0140236 goslim_synapse HGNC:5147 biolink:Gene HPD (human) A protein coding gene HPD in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5147 CHEBI:33504 biolink:ChemicalSubstance alkali metal cation hp.json alkali metal cations http://purl.obolibrary.org/obo/CHEBI_33504 3_STAR HP:0002009 biolink:PhenotypicFeature Potter facies A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. UMLS:C0266619|SNOMEDCT_US:24814002 hp.json http://purl.obolibrary.org/obo/HP_0002009 GO:0140237 biolink:BiologicalProcess translation at presynapse, modulating chemical synaptic transmission Translation that occurs at the presynapse, and that modulates chemical synaptic transmission. hp.json http://purl.obolibrary.org/obo/GO_0140237 goslim_synapse HP:0002003 biolink:PhenotypicFeature Large forehead UMLS:C4280584|UMLS:C4280583|UMLS:C1839783 hp.json Increased size of frontal region of face|Large forehead|Hyperplasia of forehead|Hypertrophy of forehead|Increased size of forehead http://purl.obolibrary.org/obo/HP_0002003 HP:0004664 biolink:PhenotypicFeature Facial midline hemangioma Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. UMLS:C1862496 hp.json http://purl.obolibrary.org/obo/HP_0004664 HP:0002002 biolink:PhenotypicFeature Deep philtrum Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. UMLS:C4020861|UMLS:C1839797 hp.json Philtrum, deep|Pronounced philtrum|Prominent philtrum|Depressed philtrum|Increased depth of philtrum http://purl.obolibrary.org/obo/HP_0002002 hposlim_core HP:0002007 biolink:PhenotypicFeature Frontal bossing Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. UMLS:C0221354|SNOMEDCT_US:90145001 hp.json Frontal protruberance|Skull bossing http://purl.obolibrary.org/obo/HP_0002007 hposlim_core UBERON:0004590 biolink:AnatomicalEntity sphincter muscle A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. UMLS:C1409894|FMA:75004|NCIT:C28381 hp.json sphincter|circular muscle http://purl.obolibrary.org/obo/UBERON_0004590 HP:0002006 biolink:PhenotypicFeature Facial cleft A congenital malformation with a cleft (gap or opening) in the face. SNOMEDCT_US:92821006|UMLS:C0685787 hp.json Facial clefts|Cleft of the face|Facial cleft|Tessier facial cleft http://purl.obolibrary.org/obo/HP_0002006 hposlim_core HP:0002000 biolink:PhenotypicFeature Short columella Reduced distance from the anterior border of the naris to the subnasale. UMLS:C1857479|UMLS:C4280585 hp.json Decreased length of columella|Columella, short|Hypoplasia of columella http://purl.obolibrary.org/obo/HP_0002000 hposlim_core HP:0004661 biolink:PhenotypicFeature Frontalis muscle weakness Reduced strength of the frontalis muscle (which is located on the forehead). UMLS:C1859438 hp.json Weakness of forehead muscle|Weak frontalis muscle http://purl.obolibrary.org/obo/HP_0004661 HP:0004660 biolink:PhenotypicFeature Hypoplasia of facial musculature Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). UMLS:C4280509|UMLS:C1834042|UMLS:C4280511|UMLS:C4280510 hp.json Small facial muscles|Hypotrophic facial musculature|Underdevelopment of facial muscles|Atrophy of facial musculature|Deficiency of facial musculature|Decreased size of facial muscles http://purl.obolibrary.org/obo/HP_0004660 NBO:0000539 biolink:NamedThing eating behavior phenotype "Observable characteristic of feeding behavior that relates to eating." [NBO:GVG] hp.json eating disorder http://purl.obolibrary.org/obo/NBO_0000539 HP:0002058 biolink:PhenotypicFeature Myopathic facies A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. UMLS:C0332615|SNOMEDCT_US:26432009 hp.json Myopathic face|Myopathic facial appearance http://purl.obolibrary.org/obo/HP_0002058 HP:0002059 biolink:PhenotypicFeature Cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. UMLS:C4020860|SNOMEDCT_US:278849000|UMLS:C0235946|SNOMEDCT_US:52522001|UMLS:C0154671|SNOMEDCT_US:418143002 hp.json Supratentorial atrophy|Degeneration of cerebrum http://purl.obolibrary.org/obo/HP_0002059 HP:0002056 biolink:PhenotypicFeature Abnormality of the glabella An abnormality of the glabella. UMLS:C4021763 hp.json Malformation of the area between the eyebrows|Deformity of the area between the eyebrows|Abnormality of the area between the eyebrows|Glabellar abnormality http://purl.obolibrary.org/obo/HP_0002056 HP:0002057 biolink:PhenotypicFeature Prominent glabella Forward protrusion of the glabella. UMLS:C1860247 hp.json Hyperplasia of glabella|Convex glabella|Protruding area between the eyebrows|Prominent area between the eyebrows http://purl.obolibrary.org/obo/HP_0002057 hposlim_core HP:0002050 biolink:PhenotypicFeature Macroorchidism, postpubertal UMLS:C1839782 hp.json http://purl.obolibrary.org/obo/HP_0002050 NBO:0000542 biolink:NamedThing polydipsia "A pathological drinking behavior characterised by large intake of fluids by mouth, usually due to excessive thirst that is relatively prolonged." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000542 NBO:0000541 biolink:NamedThing dipsosis "A pathological drinking behavior characterised by an excessive desire to drink." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000541 NBO:0000540 biolink:NamedThing drinking behavior phenotype "Observable characteristic of feeding behavior that relates to drinking." [NBO:GVG] hp.json pathological drinking behaviour|drinking disorder http://purl.obolibrary.org/obo/NBO_0000540 HP:0002054 biolink:PhenotypicFeature Heavy supraorbital ridges UMLS:C1845107 hp.json Heavy brow of the face|Heavy supraorbital ridge http://purl.obolibrary.org/obo/HP_0002054 PATO:0002062 biolink:NamedThing physical quality of a process hp.json http://purl.obolibrary.org/obo/PATO_0002062 attribute_slim HP:0002055 biolink:PhenotypicFeature Curved linear dimple below the lower lip UMLS:C1844572 hp.json http://purl.obolibrary.org/obo/HP_0002055 NBO:0000546 biolink:NamedThing polyphagia "A pathological eating behavior characterised by an abnormally large intake of food by mouth, usually due to excessive hunger that is relatively prolonged." [NBO:GVG] hp.json hyperphagia http://purl.obolibrary.org/obo/NBO_0000546 NBO:0000544 biolink:NamedThing aphagia "A pathological feeding behavior characterised by failure to eat." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000544 NBO:0000543 biolink:NamedThing hyperdipsia "A pathological drinking behavior characterised by an excessive relative temporal desire to drink." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000543 HP:0002069 biolink:PhenotypicFeature Bilateral tonic-clonic seizure A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. MSH:D012640|UMLS:C0494475|SNOMEDCT_US:54200006 hp.json Generalised convulsion|Bilateral convulsive seizures|Tonic-clonic convulsion|Generalised tonic-clonic seizure (without specification of onset)|Generalized convulsion|Seizures, tonic-clonic|Grand mal|Generalized tonic-clonic seizure (without specification of onset)|Tonic-clonic convulsions|Grand mal seizures http://purl.obolibrary.org/obo/HP_0002069 PATO:0002076 biolink:NamedThing movement behavioral quality A behavioral quality inhering in a bearer by virtue of the bearer's movement. hp.json movement behavioural quality http://purl.obolibrary.org/obo/PATO_0002076 attribute_slim HP:0002067 biolink:PhenotypicFeature Bradykinesia Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). UMLS:C0233565|SNOMEDCT_US:399317006|MSH:D018476 hp.json Slow movements|Slowness of movements http://purl.obolibrary.org/obo/HP_0002067 HP:0002068 biolink:PhenotypicFeature Neuromuscular dysphagia UMLS:C4025729 hp.json http://purl.obolibrary.org/obo/HP_0002068 PATO:0002078 biolink:NamedThing hollow A quality inhering in a bearer by virtue of the bearer's having an empty space or cavity within. hp.json http://purl.obolibrary.org/obo/PATO_0002078 value_slim HP:0002061 biolink:PhenotypicFeature Lower limb spasticity Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis SNOMEDCT_US:394679006|UMLS:C1271100 hp.json http://purl.obolibrary.org/obo/HP_0002061 HP:0002062 biolink:PhenotypicFeature Morphological abnormality of the pyramidal tract Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. UMLS:C4020859|UMLS:C4021761 hp.json Pyramidal tract disease|Abnormality of the pyramidal tracts http://purl.obolibrary.org/obo/HP_0002062 HP:0002060 biolink:PhenotypicFeature Abnormal cerebral morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. UMLS:C4021762 hp.json Abnormality of the cerebrum|Abnormality of the telencephalon|Cerebral lesion http://purl.obolibrary.org/obo/HP_0002060 HP:0002066 biolink:PhenotypicFeature Gait ataxia A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. MSH:D020234|UMLS:C0751837|SNOMEDCT_US:25136009 hp.json Inability to coordinate movements when walking|Ataxic gait|Ataxia of gait http://purl.obolibrary.org/obo/HP_0002066 HP:0002063 biolink:PhenotypicFeature Rigidity Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. MSH:D009127|UMLS:C0026837|SNOMEDCT_US:16046003 hp.json Rigidity|Muscle rigidity http://purl.obolibrary.org/obo/HP_0002063 HP:0002064 biolink:PhenotypicFeature Spastic gait Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. MSH:D020233|SNOMEDCT_US:9447003|UMLS:C0231687 hp.json Spastic walk http://purl.obolibrary.org/obo/HP_0002064 NBO:0000515 biolink:NamedThing depressive disorder hp.json depressive disorder not otherwise specified|DD-NOS http://purl.obolibrary.org/obo/NBO_0000515 HP:0002036 biolink:PhenotypicFeature Hiatus hernia The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. SNOMEDCT_US:84089009|MEDDRA:10020028|MSH:D006551|UMLS:C3489393 hp.json Stomach hernia|Hiatal hernia http://purl.obolibrary.org/obo/HP_0002036 hposlim_core HP:0004699 biolink:PhenotypicFeature Osteoporotic metatarsal Decrease in mass and density of the metatarsal bones. UMLS:C1836873 hp.json http://purl.obolibrary.org/obo/HP_0004699 PATO:0002087 biolink:NamedThing bullet-shaped A quality inhering in a bearer by virtue of the bearer's being short and wide and tapered distally. hp.json http://purl.obolibrary.org/obo/PATO_0002087 value_slim HP:0002037 biolink:PhenotypicFeature Inflammation of the large intestine Inflammation, or an inflammatory state in the large intestine. UMLS:C0021390|SNOMEDCT_US:24526004|SNOMEDCT_US:302168000|MSH:D015212|UMLS:C0578878 hp.json Inflammation of the large intestine|Inflammatory bowel disease http://purl.obolibrary.org/obo/HP_0002037 HP:0002034 biolink:PhenotypicFeature Abnormal rectum morphology An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. UMLS:C0266210|SNOMEDCT_US:86993003 hp.json Abnormality of the rectum|Anomaly of the rectum http://purl.obolibrary.org/obo/HP_0002034 HP:0002035 biolink:PhenotypicFeature Rectal prolapse Protrusion of the rectal mucous membrane through the anus. MSH:D012005|UMLS:C0034888|MEDDRA:10038077|SNOMEDCT_US:57773001 hp.json Rectal prolapsed|Rectum protrudes through anus http://purl.obolibrary.org/obo/HP_0002035 hposlim_core HP:0004696 biolink:PhenotypicFeature Talipes cavus equinovarus UMLS:C1832342 hp.json http://purl.obolibrary.org/obo/HP_0004696 HP:0002038 biolink:PhenotypicFeature Protein avoidance UMLS:C1839531 hp.json http://purl.obolibrary.org/obo/HP_0002038 PATO:0002089 biolink:NamedThing polycystic A structure quality inhering in a bearer by virtue of the bearer's body containing more than one cyst - formations of sac-like closed membranous structures not associated with neoplasia. hp.json multicystic http://purl.obolibrary.org/obo/PATO_0002089 value_slim HP:0002039 biolink:PhenotypicFeature Anorexia A lack or loss of appetite for food (as a medical condition). MSH:D000855|SNOMEDCT_US:79890006|UMLS:C0003123 hp.json Anorexia http://purl.obolibrary.org/obo/HP_0002039 HP:0004691 biolink:PhenotypicFeature 2-3 toe syndactyly Syndactyly with fusion of toes two and three. UMLS:C0432040|SNOMEDCT_US:205145001 hp.json partial or complete syndactyly 2nd-3rd toes|2-3 syndactyly of feet|2-3 toes syndactyly|Toe syndactyly, 2-3|Syndactyly of second and third toes|2-3 toe soft tissue syndactyly|Webbed 2nd and 3rd toes http://purl.obolibrary.org/obo/HP_0004691 HP:0004690 biolink:PhenotypicFeature Thickened Achilles tendon An abnormal thickening of the Achilles tendon. UMLS:C0919997 hp.json Thickened Achilles tendon http://purl.obolibrary.org/obo/HP_0004690 HP:0002032 biolink:PhenotypicFeature Esophageal atresia A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. MSH:D004933|SNOMEDCT_US:26179002|UMLS:C0014850|Fyler:4412 hp.json Birth defect in which part of esophagus did not develop|Birth defect in which part of oesophagus did not develop http://purl.obolibrary.org/obo/HP_0002032 PATO:0002083 biolink:NamedThing altered number of Having extra or fewer parts. hp.json http://purl.obolibrary.org/obo/PATO_0002083 relational_slim|attribute_slim HP:0004695 biolink:PhenotypicFeature Calcaneal epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. UMLS:C1861708 hp.json http://purl.obolibrary.org/obo/HP_0004695 HP:0002033 biolink:PhenotypicFeature Poor suck An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. UMLS:C1837142 hp.json Poor suck|Poor sucking|Sucking weakness http://purl.obolibrary.org/obo/HP_0002033 HP:0002031 biolink:PhenotypicFeature Abnormal esophagus morphology A structural abnormality of the esophagus. SNOMEDCT_US:69771008|UMLS:C0266126 hp.json Anomaly of the esophagus|Abnormality of oesophagus structure|Anomaly of the oesophagus|Abnormality of esophagus structure|Abnormal oesophagus morphology http://purl.obolibrary.org/obo/HP_0002031 HP:0004692 biolink:PhenotypicFeature 4-5 toe syndactyly Syndactyly with fusion of toes four and five. UMLS:C1837836 hp.json Symmetric syndactyly, toes 4 and 5|Syndactyly of toes 4 and 5|Webbed 4th-5th toes http://purl.obolibrary.org/obo/HP_0004692 HP:0002047 biolink:PhenotypicFeature Malignant hyperthermia Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. SNOMEDCT_US:213026003|MSH:D008305|SNOMEDCT_US:405501007|UMLS:C0024591 hp.json Malignant hyperthermia with anaesthesia|Malignant hyperthermia with anesthesia http://purl.obolibrary.org/obo/HP_0002047 HP:0002048 biolink:PhenotypicFeature Renal cortical atrophy Atrophy of the cortex of the kidney. UMLS:C4025730 hp.json http://purl.obolibrary.org/obo/HP_0002048 HP:0002045 biolink:PhenotypicFeature Hypothermia Reduced body temperature due to failed thermoregulation. SNOMEDCT_US:386689009|UMLS:C0020672|MSH:D007035 hp.json Hypothermia|Abnormally low body temperature http://purl.obolibrary.org/obo/HP_0002045 PATO:0002096 biolink:NamedThing neoplastic, non-malignant A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize. hp.json benign http://purl.obolibrary.org/obo/PATO_0002096 disposition_slim|value_slim|mpath_slim PATO:0002097 biolink:NamedThing neoplastic, malignant A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize. hp.json http://purl.obolibrary.org/obo/PATO_0002097 disposition_slim|value_slim|mpath_slim HP:0002046 biolink:PhenotypicFeature Heat intolerance The inability to maintain a comfortable body temperature in warm or hot weather. SNOMEDCT_US:69215007|UMLS:C0231274 hp.json Intolerance to heat and fevers|Heat intolerance http://purl.obolibrary.org/obo/HP_0002046 hposlim_core HP:0002049 biolink:PhenotypicFeature Proximal renal tubular acidosis A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. SNOMEDCT_US:24790002|MSH:D000141|UMLS:C0268435 hp.json Renal tubular acidosis, proximal|Proximal tubular acidosis|Renal tubular acidosis, type II http://purl.obolibrary.org/obo/HP_0002049 HP:0002040 biolink:PhenotypicFeature Esophageal varix Extreme dilation of the submucusoal veins in the lower portion of the esophagus. UMLS:C0014867|MEDDRA:10056091|SNOMEDCT_US:28670008|MSH:D004932 hp.json Enlarged vein in oesophagus|Esophageal varices|Enlarged vein in esophagus http://purl.obolibrary.org/obo/HP_0002040 hposlim_core PATO:0002094 biolink:NamedThing basophilic An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific pH conditions. hp.json http://purl.obolibrary.org/obo/PATO_0002094 disposition_slim|value_slim|mpath_slim HP:0002043 biolink:PhenotypicFeature Esophageal stricture A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. MSH:D004940|UMLS:C0014866|SNOMEDCT_US:63305008 hp.json Narrowing of esophagus due to inflammation and scar tissue|Narrowing of oesophagus due to inflammation and scar tissue http://purl.obolibrary.org/obo/HP_0002043 HP:0002044 biolink:PhenotypicFeature Zollinger-Ellison syndrome A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. MEDDRA:10048281|SNOMEDCT_US:53132006|MSH:D015043|UMLS:C0043515 hp.json http://purl.obolibrary.org/obo/HP_0002044 hposlim_core HP:0002041 biolink:PhenotypicFeature Intractable diarrhea UMLS:C0743178 hp.json Intractable diarrhoea http://purl.obolibrary.org/obo/HP_0002041 PATO:0002093 biolink:NamedThing ballooning A volume quality inhering in a degenerating cell by virtue of the bearer's exhibiting an increase in volume associated with cytoplasmic abnormalities. hp.json http://purl.obolibrary.org/obo/PATO_0002093 value_slim|mpath_slim GO:0007519 biolink:BiologicalProcess skeletal muscle tissue development The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers. hp.json myogenesis http://purl.obolibrary.org/obo/GO_0007519 GO:0007517 biolink:BiologicalProcess muscle organ development The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. hp.json http://purl.obolibrary.org/obo/GO_0007517 UBERON:0004538 biolink:AnatomicalEntity left kidney A kidney that is part of a left side of organism [Automatically generated definition]. UMLS:C0227614|EMAPA:36589|FMA:7205|MA:0001655|NCIT:C34006 hp.json http://purl.obolibrary.org/obo/UBERON_0004538 pheno_slim UBERON:0004539 biolink:AnatomicalEntity right kidney A kidney that is part of a right side of organism [Automatically generated definition]. NCIT:C34005|MA:0001683|EMAPA:36590|UMLS:C0227613|FMA:7204 hp.json http://purl.obolibrary.org/obo/UBERON_0004539 pheno_slim UBERON:0016525 biolink:AnatomicalEntity frontal lobe Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border. HBA:4009|EV:0100167|BAMS:Frontal_lobe|NCIT:C12352|UMLS:C0016733|BM:Tel-Cx-FR|CALOHA:TS-0389|BIRNLEX:928|MAT:0000505|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=56|FMA:61824|EFO:0000913|UMLS:C1268977|OpenCyc:Mx4rv3OJ8JwpEbGdrcN5Y29ycA|MESH:D005625|DHBA:12113|UMLS:C0016733 hp.json lobi frontales|frontal region|regio frontalis|frontal cortex|regio frontalis|lobus frontalis http://purl.obolibrary.org/obo/UBERON_0016525 human_reference_atlas|efo_slim UBERON:0016527 biolink:AnatomicalEntity white matter of cerebral lobe FMA:256176 hp.json http://purl.obolibrary.org/obo/UBERON_0016527 UBERON:0016526 biolink:AnatomicalEntity lobe of cerebral hemisphere Subdivision of telencephalon which is one of a number of subdivisions of each hemisphere separated by both real landmarks (sulci and fissures) and arbitrary boundaries[FMA,modified]. BTO:0000445|FMA:61823|BIRNLEX:922 hp.json lobe parts of cerebral cortex|lobe of cerebral cortex|segment of cerebral cortex|cerebral hemisphere lobe|lobes of the brain|cerebral lobe|lobi cerebri|cerebral cortical segment|regional organ part of cerebral cortex http://purl.obolibrary.org/obo/UBERON_0016526 UBERON:0016520 biolink:AnatomicalEntity epithelium of female urethra An epithelium that is part of a female urethra. EMAPA:30470|FMA:19774 hp.json urethral epithelium of female|female urethral epithelium http://purl.obolibrary.org/obo/UBERON_0016520 UBERON:0016522 biolink:AnatomicalEntity cavity of right atrium Luminal space of the right atrium of the heart. FMA:11359|EMAPA:26020 hp.json right atrial cavity http://purl.obolibrary.org/obo/UBERON_0016522 PATO:0002021 biolink:NamedThing conical A convex 3-D shape quality inhering in a bearer by virtue of the bearer's resembling a cone (a 3-D shape with a round cross section that tapers). Image:http://upload.wikimedia.org/wikipedia/commons/d/d2/Cone_3d.png hp.json cone-shaped http://purl.obolibrary.org/obo/PATO_0002021 value_slim CHEBI:33595 biolink:ChemicalSubstance cyclic compound Any molecule that consists of a series of atoms joined together to form a ring. Wikipedia:Cyclic_compound hp.json cyclic compounds http://purl.obolibrary.org/obo/CHEBI_33595 3_STAR CHEBI:57560 biolink:ChemicalSubstance long-chain fatty acid anion A fatty acid anion with a chain length of C13 to C22. hp.json a long-chain fatty acid|long-chain fatty acid anions|a long-chain carboxylate http://purl.obolibrary.org/obo/CHEBI_57560 3_STAR CHEBI:33597 biolink:ChemicalSubstance homocyclic compound A cyclic compound having as ring members atoms of the same element only. hp.json homocyclic compounds|homocyclic compound|isocyclic compounds http://purl.obolibrary.org/obo/CHEBI_33597 3_STAR CHEBI:33598 biolink:ChemicalSubstance carbocyclic compound A homocyclic compound in which all of the ring members are carbon atoms. hp.json carbocyclic compound|carbocycle|carbocyclic compounds http://purl.obolibrary.org/obo/CHEBI_33598 3_STAR PATO:0002026 biolink:NamedThing non-progressive A quality of a single process inhering in a bearer by virtue of the bearer's not increasing over time. hp.json http://purl.obolibrary.org/obo/PATO_0002026 value_slim|mpath_slim|hpo_slim UBERON:0016517 biolink:AnatomicalEntity lumen of jejunum An anatomical space that is part of a jejunum. FMA:14590|EMAPA:18729 hp.json jejunal lumen|jejunum lumen http://purl.obolibrary.org/obo/UBERON_0016517 UBERON:0004548 biolink:AnatomicalEntity left eye An eye that is part of a left side of organism [Automatically generated definition]. FMA:12515|MA:0002949|NCIT:C119334|SCTID:362503005|EMAPA:37362 hp.json left orbital part of face|left eyeball|left orbital region http://purl.obolibrary.org/obo/UBERON_0004548 pheno_slim UBERON:0004544 biolink:AnatomicalEntity epididymis epithelium The layer of secretory cells which lines the epididymis. MA:0002825|CALOHA:TS-2063|EMAPA:30445|BTO:0005768|FMA:19153 hp.json epididymis epithelium|epithelium of epididymis http://purl.obolibrary.org/obo/UBERON_0004544 pheno_slim GO:0007528 biolink:BiologicalProcess neuromuscular junction development A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction. hp.json NMJ stability|neuromuscular junction stability|neuromuscular junction organization http://purl.obolibrary.org/obo/GO_0007528 UBERON:0004529 biolink:AnatomicalEntity anatomical projection A projection or outgrowth of tissue from a larger body or organ. galen:Ridge|VSAO:0000180|AAO:0010278|FMA:67601|XAO:0004020|NCIT:C61549|HAO:0000822|TAO:0001834 hp.json spine|flange|laminae|processes|papilla|process|projection|protrusion|ridge|ridges|shelves|anatomical protrusion|anatomical process|shelf|organ process|projections|flanges|lamellae|lamina|lamella|processus|projection|process of organ http://purl.obolibrary.org/obo/UBERON_0004529 upper_level UBERON:0004527 biolink:AnatomicalEntity alveolar process of maxilla The thickened ridge of bone that contains the tooth sockets on the maxilla. FMA:52897|MA:0001492|AAO:0000396 hp.json alveolar margin of maxilla|alveolar process of maxilla|maxilla alveolar process|processus alveolaris (maxilla)|alveolar part of maxilla|pars dentalis of maxilla|posterior alveolar ridge|processus alveolaris maxillae|lower alveolar ridge|alveolar ridge of maxilla http://purl.obolibrary.org/obo/UBERON_0004527 pheno_slim UBERON:0004528 biolink:AnatomicalEntity alveolar ridge of mandible The thickened ridge of bone that contains the tooth sockets on the mandible. FMA:52832 hp.json anterior alveolar ridge|alveolar margin of mandible|alveolar arch of mandible|alveolar process of mandible|pars alveolaris mandibulae|pars alveolaris (mandibula)|upper alveolar ridge|alveolar part of mandible http://purl.obolibrary.org/obo/UBERON_0004528 pheno_slim HP:0004608 biolink:PhenotypicFeature Anteriorly placed odontoid process Anterior mislocalization of the dens of the axis. UMLS:C1844512 hp.json http://purl.obolibrary.org/obo/HP_0004608 UBERON:0016514 biolink:AnatomicalEntity cavity of left ventricle Luminal space of the left ventricle of the heart. EMAPA:26038|FMA:9466 hp.json left ventricular cavity http://purl.obolibrary.org/obo/UBERON_0016514 HP:0004607 biolink:PhenotypicFeature Anterior beaking of lower thoracic vertebrae Anterior tongue-like protrusions of the lower thoracic vertebral bodies. UMLS:C4025306 hp.json http://purl.obolibrary.org/obo/HP_0004607 UBERON:0016513 biolink:AnatomicalEntity cavity of left atrium Luminal space of the left atrium of the heart. EMAPA:26011|FMA:9465 hp.json left atrial cavity|left atrium lumen http://purl.obolibrary.org/obo/UBERON_0016513 HP:0004606 biolink:PhenotypicFeature Unossified vertebral bodies A lack of ossification of the vertebral bodies. UMLS:C1860202 hp.json http://purl.obolibrary.org/obo/HP_0004606 PATO:0002039 biolink:NamedThing biconcave A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. hp.json http://purl.obolibrary.org/obo/PATO_0002039 value_slim HP:0004605 biolink:PhenotypicFeature Absent vertebral body mineralization A lack of bone mineralization of the vertebral bodies. UMLS:C1860191 hp.json http://purl.obolibrary.org/obo/HP_0004605 UBERON:0016510 biolink:AnatomicalEntity epithelium of male urethra An epithelium that is part of a male urethra. EMAPA:30467|FMA:19684 hp.json urethral epithelium of male|male urethral epithelium http://purl.obolibrary.org/obo/UBERON_0016510 UBERON:0016512 biolink:AnatomicalEntity lumen of duodenum An anatomical space that is part of a duodenum. FMA:14589|EMAPA:19080 hp.json doudenal lumen|duodenal lumen http://purl.obolibrary.org/obo/UBERON_0016512 HP:0004609 biolink:PhenotypicFeature Patchy distortion of vertebrae UMLS:C4025305 hp.json http://purl.obolibrary.org/obo/HP_0004609 PATO:0002037 biolink:NamedThing degeneration A structural quality inhering in a bearer by virtue of the bearer exhibiting deterioration of its structure. hp.json http://purl.obolibrary.org/obo/PATO_0002037 scalar_slim|attribute_slim GO:0140297 biolink:MolecularActivity DNA-binding transcription factor binding Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. hp.json transcription activator binding|activating transcription factor binding|repressing transcription factor binding http://purl.obolibrary.org/obo/GO_0140297 HP:0004603 biolink:PhenotypicFeature Hyperconvex vertebral body endplates UMLS:C4025307 hp.json http://purl.obolibrary.org/obo/HP_0004603 HP:0004602 biolink:PhenotypicFeature Cervical C2/C3 vertebral fusion Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. SNOMEDCT_US:5601008|MSH:D007714|SNOMEDCT_US:388981000|UMLS:C0022738 hp.json Klippel-Feil syndrome|Fusion of cervical vertebrae c2-3|Klippel-Feil anomaly http://purl.obolibrary.org/obo/HP_0004602 PATO:0002034 biolink:NamedThing undivided A shape quality inhering in a bearer by virtue of the bearer's being unseparated into parts or divisions. hp.json unseparated http://purl.obolibrary.org/obo/PATO_0002034 value_slim UBERON:0016509 biolink:AnatomicalEntity cavity of right ventricle Luminal space of the right ventricle of the heart. FMA:9291|EMAPA:26047 hp.json right ventricle lumen|right ventricular cavity http://purl.obolibrary.org/obo/UBERON_0016509 HP:0004601 biolink:PhenotypicFeature Spina bifida occulta at L5 The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin. UMLS:C4025308 hp.json http://purl.obolibrary.org/obo/HP_0004601 UBERON:0004536 biolink:AnatomicalEntity lymph vasculature A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep. TAO:0005105|FMA:63815|ZFA:0005105 hp.json lymphatic vasculature|lymphatic vessels set|set of lymphatic vessels|lymphatic trunks and ducts|trunci et ductus lymphatici|lymphatic vessel network|lymph vessels http://purl.obolibrary.org/obo/UBERON_0004536 human_reference_atlas|vertebrate_core UBERON:0004537 biolink:AnatomicalEntity blood vasculature A vascular network consisting of blood vessels. TAO:0001079|ZFA:0001079 hp.json blood vessels|blood vascular network|blood system|blood vessel system|set of blood vessels http://purl.obolibrary.org/obo/UBERON_0004537 human_reference_atlas UBERON:0004534 biolink:AnatomicalEntity right testis A testis that is in the right side of the genitalia [Automatically generated definition]. OpenCyc:Mx4rvVjM25wpEbGdrcN5Y29ycA|UMLS:C0227997|MA:0001747|EMAPA:37371|FMA:7211|NCIT:C49326 hp.json right testicle http://purl.obolibrary.org/obo/UBERON_0004534 UBERON:0004535 biolink:AnatomicalEntity cardiovascular system Anatomical system that has as its parts the heart and blood vessels. MA:0000010|UMLS:C0007226|MIAA:0000016|BILA:0000016|TAO:0000010|EMAPA:16370|AAO:0011001|VHOG:0000302|FMA:7161|EHDAA:394|BTO:0000088|EFO:0000791|GAID:467|MESH:D002319|WikipediaCategory:Cardiovascular_system|OpenCyc:Mx4rvVjzG5wpEbGdrcN5Y29ycA|EMAPA:16104|SCTID:278198007|EHDAA2:0000216|XAO:0000100|CALOHA:TS-1297|EV:0100017|MAT:0000016|XAO:0001010|NCIT:C12686|ZFA:0000010 hp.json CV system|Herz und Gefaesssystem http://purl.obolibrary.org/obo/UBERON_0004535 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0004533 biolink:AnatomicalEntity left testis A testis that is in the left side of the genitalia [Automatically generated definition]. NCIT:C49323|MA:0001746|EMAPA:37370|FMA:7212|UMLS:C0227998 hp.json left testicle http://purl.obolibrary.org/obo/UBERON_0004533 UBERON:0004530 biolink:AnatomicalEntity bony projection Anatomical projection that is composed of bone tissue. FMA:75433|ZFA:0001637 hp.json bone process|projection of bone|bony projections http://purl.obolibrary.org/obo/UBERON_0004530 vertebrate_core UBERON:0004518 biolink:AnatomicalEntity muscle of vertebral column A muscle that is attached to a vertebra of the vertebral column. FMA:22594 hp.json vertebral column muscle http://purl.obolibrary.org/obo/UBERON_0004518 UBERON:0004519 biolink:AnatomicalEntity muscle of anal triangle Any muscle organ that is part of a anal part of perineum. FMA:77304 hp.json anal triangle muscle http://purl.obolibrary.org/obo/UBERON_0004519 UBERON:0004516 biolink:AnatomicalEntity smooth muscle tissue of terminal bronchiole A portion of smooth muscle tissue that is part of a terminal bronchiole [Automatically generated definition]. FMA:261051 hp.json http://purl.obolibrary.org/obo/UBERON_0004516 human_reference_atlas PATO:0002049 biolink:NamedThing lateral and rotional curvature A curvature quality inhering in a bearer by virtue of the bearer's being curved around an axis and towards the side. hp.json http://purl.obolibrary.org/obo/PATO_0002049 value_slim PATO:0002043 biolink:NamedThing increased anterior-posterior diameter An anterior-posterior diameter quality which is relatively large. hp.json high anterior-posterior diameter http://purl.obolibrary.org/obo/PATO_0002043 value_slim PATO:0002044 biolink:NamedThing trapezoid A shape quality inhering in a bearer by virtue of the bearer's being a quadrilateral with two parallel sides. hp.json trapezoidal http://purl.obolibrary.org/obo/PATO_0002044 value_slim PATO:0002041 biolink:NamedThing anterior-posterior diameter A diameter that is along the anterior-posterior axis. hp.json http://purl.obolibrary.org/obo/PATO_0002041 scalar_slim|attribute_slim CHEBI:33575 biolink:ChemicalSubstance carboxylic acid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. Wikipedia:Carboxylic_acid|PMID:18433345|PMID:17147560 hp.json Karbonsaeure|Carbonsaeuren|acido carboxilico|Carbonsaeure|acides carboxyliques|carboxylic acids|acide carboxylique|carboxylic acid|RC(=O)OH|acidos carboxilicos http://purl.obolibrary.org/obo/CHEBI_33575 3_STAR PATO:0002042 biolink:NamedThing decreased anterior-posterior diameter An anterior-posterior diameter quality which is relatively small. hp.json low anterior-posterior diameter http://purl.obolibrary.org/obo/PATO_0002042 value_slim CHEBI:33576 biolink:ChemicalSubstance sulfur-containing carboxylic acid Any carboxylic acid having a sulfur substituent. hp.json S-containing carboxylic acids|S-containing carboxylic acid|sulfur-containing carboxylic acids http://purl.obolibrary.org/obo/CHEBI_33576 3_STAR PATO:0002045 biolink:NamedThing dendritic A branched quality inhering in a bearer by virtue of the bearer's having smaller branches arising from larger branches. Resembling a tree in branching structure. hp.json dendriform|dendroid|dendroidal http://purl.obolibrary.org/obo/PATO_0002045 value_slim CHEBI:33579 biolink:ChemicalSubstance main group molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. hp.json main group compounds|main group molecular entities http://purl.obolibrary.org/obo/CHEBI_33579 3_STAR UBERON:0004521 biolink:AnatomicalEntity vasculature of muscle organ A vasculature that is part of a muscle organ [Automatically generated definition]. FMA:87123 hp.json muscular organ vasculature http://purl.obolibrary.org/obo/UBERON_0004521 UBERON:0004522 biolink:AnatomicalEntity vasculature of musculoskeletal system A vasculature that is part of a musculoskeletal system [Automatically generated definition]. FMA:239607 hp.json http://purl.obolibrary.org/obo/UBERON_0004522 PATO:0002040 biolink:NamedThing biconvex A shape quality inhering in a bearer by virtue of the bearer's being convex on both sides or surface. Image:http://www.thefreedictionary.com/_/viewer.aspx?path=hm&name=A4bicovx hp.json http://purl.obolibrary.org/obo/PATO_0002040 value_slim CHEBI:33570 biolink:ChemicalSubstance benzenediols hp.json http://purl.obolibrary.org/obo/CHEBI_33570 3_STAR UBERON:0004520 biolink:AnatomicalEntity striated muscle tissue of prostate A portion of striated muscle tissue that is part of a prostate gland [Automatically generated definition]. FMA:45716 hp.json http://purl.obolibrary.org/obo/UBERON_0004520 GO:0007507 biolink:BiologicalProcess heart development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. Wikipedia:Heart_development hp.json cardiac development|dorsal vessel development http://purl.obolibrary.org/obo/GO_0007507 UBERON:0004509 biolink:AnatomicalEntity skeletal muscle tissue of trapezius A portion of skeletal muscle tissue that is part of a trapezius [Automatically generated definition]. FMA:261938 hp.json skeletal muscle tissue of trapezius muscle http://purl.obolibrary.org/obo/UBERON_0004509 GO:0007506 biolink:BiologicalProcess gonadal mesoderm development The process whose specific outcome is the progression of the gonadal mesoderm over time, from its formation to the mature structure. The gonadal mesoderm is the middle layer of the three primary germ layers of the embryo which will go on to form the gonads of the organism. hp.json http://purl.obolibrary.org/obo/GO_0007506 UBERON:0004507 biolink:AnatomicalEntity skeletal muscle tissue of temporalis A portion of skeletal muscle tissue that is part of a temporalis [Automatically generated definition]. FMA:261740 hp.json http://purl.obolibrary.org/obo/UBERON_0004507 UBERON:0004508 biolink:AnatomicalEntity skeletal muscle tissue of levator palpebrae superioris A portion of skeletal muscle tissue that is part of a levator palpebrae superioris [Automatically generated definition]. FMA:261782 hp.json http://purl.obolibrary.org/obo/UBERON_0004508 UBERON:0004505 biolink:AnatomicalEntity skeletal muscle tissue of orbicularis oculi A portion of skeletal muscle tissue that is part of a orbicularis oculi [Automatically generated definition]. FMA:261812 hp.json http://purl.obolibrary.org/obo/UBERON_0004505 UBERON:0004506 biolink:AnatomicalEntity skeletal muscle tissue of masseter A portion of skeletal muscle tissue that is part of a masseter [Automatically generated definition]. FMA:261824 hp.json http://purl.obolibrary.org/obo/UBERON_0004506 CHEBI:45557 biolink:ChemicalSubstance sec-butyl group PDBeChem:NBU hp.json isoleucine side-chain|1-methylpropyl|-CH(CH3)-CH2-CH3|CH3-CH2-CH(CH3)-|butan-2-yl|SEC-BUTYL GROUP|butan-2-ido|sec-butyl|s-butyl|but-2-yl http://purl.obolibrary.org/obo/CHEBI_45557 3_STAR PATO:0002055 biolink:NamedThing increased fragility A fragility which is relatively high. hp.json http://purl.obolibrary.org/obo/PATO_0002055 disposition_slim|value_slim PATO:0002052 biolink:NamedThing decreased occurrence An occurrence which is relatively low. hp.json decreased incidence http://purl.obolibrary.org/obo/PATO_0002052 PATO:0002056 biolink:NamedThing decreased fragility A fragility which is relatively low. hp.json http://purl.obolibrary.org/obo/PATO_0002056 disposition_slim|value_slim UBERON:0004515 biolink:AnatomicalEntity smooth muscle tissue of bronchiole A portion of smooth muscle tissue that is part of a bronchiole [Automatically generated definition]. FMA:261081|FMA:261045 hp.json smooth muscle tissue of lobular bronchiole http://purl.obolibrary.org/obo/UBERON_0004515 UBERON:0004510 biolink:AnatomicalEntity skeletal muscle tissue of pectoralis major A portion of skeletal muscle tissue that is part of a pectoralis major [Automatically generated definition]. FMA:261968 hp.json skeletal muscle tissue of pectoralis major muscle http://purl.obolibrary.org/obo/UBERON_0004510 PATO:0002051 biolink:NamedThing increased occurrence An occurrence which is relatively high. hp.json increased incidence http://purl.obolibrary.org/obo/PATO_0002051 UBERON:0004511 biolink:AnatomicalEntity skeletal muscle tissue of rectus abdominis A portion of skeletal muscle tissue that is part of a rectus abdominis [Automatically generated definition]. FMA:261924 hp.json http://purl.obolibrary.org/obo/UBERON_0004511 CHEBI:33582 biolink:ChemicalSubstance carbon group molecular entity hp.json carbon group molecular entity|carbon group molecular entities http://purl.obolibrary.org/obo/CHEBI_33582 3_STAR CHEBI:33558 biolink:ChemicalSubstance alpha-amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. hp.json alpha-amino-acid anion|alpha-amino acid anions|alpha-amino-acid anions http://purl.obolibrary.org/obo/CHEBI_33558 3_STAR CHEBI:33559 biolink:ChemicalSubstance s-block element atom hp.json s-block elements|s-block element http://purl.obolibrary.org/obo/CHEBI_33559 3_STAR HP:0004639 biolink:PhenotypicFeature Elevated amniotic fluid alpha-fetoprotein An elevation of alpha-feto protein measured in the amniotic fluid. UMLS:C1839860 hp.json Elevated amniotic fluid alpha fetal protein|Elevated amniotic fluid alpha-fetoglobulin|Elevated amniotic fluid alpha-1-fetoprotein|Elevated amniotic fluid alpha foetal protein http://purl.obolibrary.org/obo/HP_0004639 UBERON:0016565 biolink:AnatomicalEntity cerebral blood vessel A blood vessel that is part of a cerebellum. hp.json http://purl.obolibrary.org/obo/UBERON_0016565 UBERON:0016566 biolink:AnatomicalEntity pit An roughly circular indentation in a surface. AEO:0000204 hp.json http://purl.obolibrary.org/obo/UBERON_0016566 upper_level HP:0004633 biolink:PhenotypicFeature Lower thoracic kyphosis Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. UMLS:C1864361 hp.json Round mid-back http://purl.obolibrary.org/obo/HP_0004633 CHEBI:33551 biolink:ChemicalSubstance organosulfonic acid An organic derivative of sulfonic acid in which the sulfo group is linked directly to carbon. hp.json sulfonic acids|organosulfonic acids http://purl.obolibrary.org/obo/CHEBI_33551 3_STAR HP:0004632 biolink:PhenotypicFeature Cervical segmentation defect An abnormality related to a defect of vertebral separation of cervical vertebrae during development. UMLS:C1862415 hp.json Cervical spine segmentation defect http://purl.obolibrary.org/obo/HP_0004632 UBERON:0004581 biolink:AnatomicalEntity systemic venous system The part of the venous system that drains the general body tissues[Kardong]. Wikipedia:Systemic_venous_system|FMA:45626 hp.json systemic venous circulatory system http://purl.obolibrary.org/obo/UBERON_0004581 HP:0004631 biolink:PhenotypicFeature Decreased cervical spine flexion due to contractures of posterior cervical muscles UMLS:C4280512|UMLS:C1839653 hp.json Contracture of post-cervical muscles|Inability to touch chin to chest http://purl.obolibrary.org/obo/HP_0004631 CHEBI:33552 biolink:ChemicalSubstance sulfonic acid derivative hp.json sulfonic acid derivatives|sulfonic acid derivative|derivatives of sulfonic acid http://purl.obolibrary.org/obo/CHEBI_33552 3_STAR UBERON:0004582 biolink:AnatomicalEntity venous system The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. BTO:0004692|SCTID:362060003|MA:0002720|EMAPA:16240|EHDAA:486|UMLS:C1267406|VHOG:0000277|NCIT:C33858|EHDAA2:0002171 hp.json vein system http://purl.obolibrary.org/obo/UBERON_0004582 HP:0004630 biolink:PhenotypicFeature Anterior beaking of thoracic vertebrae Anterior tongue-like protrusions of thoracic vertebral bodies. UMLS:C4025302 hp.json http://purl.obolibrary.org/obo/HP_0004630 HP:0004637 biolink:PhenotypicFeature Decreased cervical spine mobility UMLS:C1859692 hp.json Limited neck movement http://purl.obolibrary.org/obo/HP_0004637 CHEBI:33554 biolink:ChemicalSubstance organosulfonate oxoanion An organic anion obtained by deprotonation of the sufonate group(s) of any organosulfonic acid. hp.json organosulfonate|organosulfonate oxoanions|organosulfonates http://purl.obolibrary.org/obo/CHEBI_33554 3_STAR HP:0004635 biolink:PhenotypicFeature Cervical C5/C6 vertebrae fusion Fusion of the C5 and C6 cervical vertebrae. UMLS:C4025301 hp.json http://purl.obolibrary.org/obo/HP_0004635 HP:0004634 biolink:PhenotypicFeature Cuboid-shaped vertebral bodies UMLS:C2673653 hp.json Cuboid vertebral bodies http://purl.obolibrary.org/obo/HP_0004634 UBERON:0016550 biolink:AnatomicalEntity spinal cord column hp.json http://purl.obolibrary.org/obo/UBERON_0016550 UBERON:0016552 biolink:AnatomicalEntity phlegm Mucus produced in the respiratory tract. NCIT:C93171|UMLS:C0225378 hp.json http://purl.obolibrary.org/obo/UBERON_0016552 UBERON:0016551 biolink:AnatomicalEntity subdivision of spinal cord ventral column hp.json http://purl.obolibrary.org/obo/UBERON_0016551 non_informative CHEBI:33569 biolink:ChemicalSubstance noradrenaline A catecholamine in which C-1 of the aminoethyl side-chain is hydroxy-substituted. Gmelin:863925|Beilstein:2210994|CAS:138-65-8|LINCS:LSM-5181|CAS:138-65-8 hp.json 4-(2-amino-1-hydroxyethyl)benzene-1,2-diol|noradrenalina|norepinephrine http://purl.obolibrary.org/obo/CHEBI_33569 3_STAR UBERON:0016554 biolink:AnatomicalEntity white matter of midbrain A white matter that is part of the midbrain. HBA:265505382|FMA:83936|DHBA:10650 hp.json mesencephalic white matter http://purl.obolibrary.org/obo/UBERON_0016554 human_reference_atlas UBERON:0016553 biolink:AnatomicalEntity respiratory system mucus Any mucus produced by a mucosae of the respiratory system. This includes the mucus produced in the nasal cavity (nasal mucus) and mucus produced in the respiratory tract (phlegm). hp.json http://purl.obolibrary.org/obo/UBERON_0016553 UBERON:0004572 biolink:AnatomicalEntity arterial system The part of the cardiovascular system consisting of all arteries. SCTID:362030008|EMAPA:16201|VHOG:0000273|BTO:0004690|EMAPA:16371|EHDAA2:0000143|MA:0002719|EHDAA:396 hp.json http://purl.obolibrary.org/obo/UBERON_0004572 pheno_slim CHEBI:33561 biolink:ChemicalSubstance d-block element atom hp.json d-block elements|d-block element http://purl.obolibrary.org/obo/CHEBI_33561 3_STAR UBERON:0004573 biolink:AnatomicalEntity systemic artery An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. EMAPA:37126|Wikipedia:Artery#Systemic_arteries|FMA:66464 hp.json systemic arterial subtree http://purl.obolibrary.org/obo/UBERON_0004573 pheno_slim CHEBI:33563 biolink:ChemicalSubstance glycolipid Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent. Wikipedia:Glycolipids|KEGG:C05005 hp.json glycolipids|Glycolipid http://purl.obolibrary.org/obo/CHEBI_33563 3_STAR UBERON:0004571 biolink:AnatomicalEntity systemic arterial system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. Wikipedia:Systemic_circulation#Arteries|FMA:45623 hp.json systemic arterial circulatory system http://purl.obolibrary.org/obo/UBERON_0004571 pheno_slim GO:0140253 biolink:BiologicalProcess cell-cell fusion A cellular process in which two or more cells combine together, their plasma membrane fusing, producing a single cell. In some cases, nuclei fuse, producing a polyploid cell, while in other cases, nuclei remain separate, producing a syncytium. hp.json cell fusion|cell cell fusion http://purl.obolibrary.org/obo/GO_0140253 CHEBI:33566 biolink:ChemicalSubstance catechols Any compound containing an o-diphenol component. KEGG:C15571 hp.json a catechol|benzene-1,2-diols|1,2-benzenediols http://purl.obolibrary.org/obo/CHEBI_33566 3_STAR HP:0004646 biolink:PhenotypicFeature Hypoplasia of the nasal bone Underdevelopment of the nasal bone. UMLS:C4021651 hp.json Hypotrophic nasal bone|Decreased size of nasal bone|Deficiency of nasal bone|Small nasal bone|Nasal bone hypoplasia|Underdevelopment of nasal bone http://purl.obolibrary.org/obo/HP_0004646 CHEBI:33567 biolink:ChemicalSubstance catecholamine 4-(2-Aminoethyl)pyrocatechol [4-(2-aminoethyl)benzene-1,2-diol] and derivatives formed by substitution. KEGG:C02012 hp.json catecholamines|catecholamines|Catecholamine http://purl.obolibrary.org/obo/CHEBI_33567 3_STAR CHEBI:33568 biolink:ChemicalSubstance adrenaline A catecholamine in which the aminoethyl side-chain is hydroxy-substituted at C-1 and methylated on nitrogen. PMID:24252294|PMID:24719616|LINCS:LSM-4958|Drug_Central:4508|Gmelin:51559|PMID:10052027|Beilstein:2212160|Reaxys:2212160|CAS:329-65-7 hp.json 4-[1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol|racepinefrina|dl-adrenaline|2-(methylamino)-1-(3,4-dihydroxyphenyl)ethanol|epinephrine racemic|racepinefrinum|(+-)-epinephrine|(+-)-adrenaline|racepinefrine http://purl.obolibrary.org/obo/CHEBI_33568 3_STAR CHEBI:33560 biolink:ChemicalSubstance p-block element atom Any main group element atom belonging to the p-block of the periodic table. hp.json p-block element|p-block elements http://purl.obolibrary.org/obo/CHEBI_33560 3_STAR PATO:0002007 biolink:NamedThing convex 3-D shape A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave. Image:http://upload.wikimedia.org/wikipedia/commons/0/06/Convex_polygon_illustration1.png hp.json http://purl.obolibrary.org/obo/PATO_0002007 attribute_slim HP:0004619 biolink:PhenotypicFeature Lumbar kyphoscoliosis UMLS:C1834953 hp.json http://purl.obolibrary.org/obo/HP_0004619 PATO:0002008 biolink:NamedThing concave 3-D shape A complete three dimensional shape in which there is a line connecting pair of points on the object that lies outside the object. Or: a shape with cavities. Contrast: concave. Image:http://en.wikipedia.org/wiki/Image:Convex_polygon_illustration2.png hp.json http://purl.obolibrary.org/obo/PATO_0002008 attribute_slim HP:0004618 biolink:PhenotypicFeature Sandwich appearance of vertebral bodies UMLS:C1850134 hp.json http://purl.obolibrary.org/obo/HP_0004618 UBERON:0016549 biolink:AnatomicalEntity central nervous system white matter layer A layer of of the central nervous system that is composed of white matter. FMA:83898 hp.json CNS white matter layer|white matter layer|white matter layer of neuraxis http://purl.obolibrary.org/obo/UBERON_0016549 HP:0004617 biolink:PhenotypicFeature Butterfly vertebral arch Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. UMLS:C1861627 hp.json http://purl.obolibrary.org/obo/HP_0004617 PATO:0002005 biolink:NamedThing concavity Surface shape that refers to the inward or outward curvature of the surface. hp.json http://purl.obolibrary.org/obo/PATO_0002005 attribute_slim PATO:0002006 biolink:NamedThing 2-D shape A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. hp.json 2-D projection|cross-sectional http://purl.obolibrary.org/obo/PATO_0002006 attribute_slim UBERON:0016548 biolink:AnatomicalEntity central nervous system gray matter layer A layer of of the central nervous system that is part of gray matter. FMA:83142 hp.json CNS gray matter layer|grey matter layer of neuraxis|gray matter layer of neuraxis|CNS grey matter layer|grey matter layer http://purl.obolibrary.org/obo/UBERON_0016548 HP:0004616 biolink:PhenotypicFeature Cleft vertebral arch A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra. UMLS:C1859458 hp.json Cleft vertebral arches http://purl.obolibrary.org/obo/HP_0004616 UBERON:0016542 biolink:AnatomicalEntity limbic cortex FMA:242234 hp.json cortex of limbic lobe|gray matter of limbic lobe|limbic lobe cortex http://purl.obolibrary.org/obo/UBERON_0016542 PATO:0002009 biolink:NamedThing branchiness A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. hp.json http://purl.obolibrary.org/obo/PATO_0002009 attribute_slim|cell_quality UBERON:0016545 biolink:AnatomicalEntity pharyngeal ectoderm The external part of the developing pharynx that is made of ectoderm. During vertebrate development, pockets form in pharyngeal ectoderm between the pharyngeal arches. ZFA:0001379|TAO:0001379 hp.json http://purl.obolibrary.org/obo/UBERON_0016545 HP:0004611 biolink:PhenotypicFeature Anterior concavity of thoracic vertebrae UMLS:C1839822 hp.json Anteriorly concave vertebrae http://purl.obolibrary.org/obo/HP_0004611 PATO:0002000 biolink:NamedThing lacks all parts of type A quality of physical entities inhering in a bearer by virtue of the bearer's lacking a physical part as specified by the additional entity. OBO_REL:lacks_part hp.json lacks all physical parts of type http://purl.obolibrary.org/obo/PATO_0002000 relational_slim HP:0004610 biolink:PhenotypicFeature Lumbar spinal canal stenosis An abnormal narrowing of the lumbar spinal canal. UMLS:C0158288|SNOMEDCT_US:18347007 hp.json Lumbar spinal stenosis|Narrow lumbar spinal canal http://purl.obolibrary.org/obo/HP_0004610 HP:0004614 biolink:PhenotypicFeature Spina bifida occulta at S1 The closed form of spina bifida with incomplete closure of S1 with intact overlying skin. UMLS:C4025304 hp.json http://purl.obolibrary.org/obo/HP_0004614 PATO:0002001 biolink:NamedThing has fewer parts of type The bearer of this quality has_part < n AND has_part > 0 of the indicated entity type, where n is the normal amount for a comparable organism. Note that the bearer of the quality is the whole, not the part. Formally: If a bearer entity e has fewer parts of type X at time t, then the number of instances x of X at t such that x part_of e is < n, where n is either the normal number for comparable entities, or n is stated explicitly. hp.json has fewer physical parts of type|decreased number of|has decreased number of http://purl.obolibrary.org/obo/PATO_0002001 relational_slim PATO:0002002 biolink:NamedThing has extra parts of type The bearer of this quality has_part > n of the indicated entity type, where n is the normal amount for a comparable organism. Note that the bearer of the quality is the whole, not the part. hp.json has increased number of|having extra physical parts|having supernumerary physical parts|increased number of|has extra parts of http://purl.obolibrary.org/obo/PATO_0002002 relational_slim UBERON:0016530 biolink:AnatomicalEntity parietal cortex Gray matter of the parietal region of the neocortex, located in the parietal lobe of gyrencephalic animals. It is continuous anteriorly with the frontal cortex, posteriorly with the occipital cortex and medially with the insular cortex and with the temporal cortex on the posterior/inferior border. DHBA:10208|DMBA:16016|NLX:79282|MA:0000916|EMAPA:35667|FMA:242203 hp.json gray matter of parietal lobe|parietal lobe cortex|parietal neocortex|cortex of parietal lobe http://purl.obolibrary.org/obo/UBERON_0016530 pheno_slim UBERON:0004549 biolink:AnatomicalEntity right eye An eye that is part of a right side of organism [Automatically generated definition]. FMA:12514|NCIT:C119333|EMAPA:37363|SCTID:362502000|MA:0002950 hp.json right eyeball|right orbital part of face|right orbital region http://purl.obolibrary.org/obo/UBERON_0004549 pheno_slim UBERON:0016536 biolink:AnatomicalEntity white matter of limbic lobe A white matter of cerebral lobe that is part of a limbic lobe. FMA:261091 hp.json http://purl.obolibrary.org/obo/UBERON_0016536 HP:0004629 biolink:PhenotypicFeature Small cervical vertebral bodies Reduced size of cervical vertebrae. UMLS:C1851130 hp.json Small cervical vertebrae http://purl.obolibrary.org/obo/HP_0004629 UBERON:0016538 biolink:AnatomicalEntity temporal cortex Gray matter of the temporal region of the neocortex, located in the temporal lobe in gyrencephalic animals. BM:Tel-Cx-Te|NLX:94939|FMA:242201|MA:0000941|DHBA:10235|DMBA:16044 hp.json cortex of temporal lobe|gray matter of temporal lobe|temporal neocortex|temporal lobe cortex http://purl.obolibrary.org/obo/UBERON_0016538 UBERON:0016531 biolink:AnatomicalEntity white matter of parietal lobe A white matter of cerebral lobe that is part of a parietal lobe. FMA:256184 hp.json http://purl.obolibrary.org/obo/UBERON_0016531 UBERON:0016534 biolink:AnatomicalEntity white matter of temporal lobe A white matter of cerebral lobe that is part of a temporal lobe. FMA:256186 hp.json http://purl.obolibrary.org/obo/UBERON_0016534 HP:0004622 biolink:PhenotypicFeature Progressive intervertebral space narrowing A progressive form of decreased height of the intervertebral disk. UMLS:C1837670 hp.json http://purl.obolibrary.org/obo/HP_0004622 PATO:0002011 biolink:NamedThing neoplastic A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells. hp.json tumorous http://purl.obolibrary.org/obo/PATO_0002011 value_slim|mpath_slim|disposition_slim CHEBI:33540 biolink:ChemicalSubstance thiosulfuric acid hp.json sulfurothioic acid|thiosulfuric acid http://purl.obolibrary.org/obo/CHEBI_33540 3_STAR HP:0004621 biolink:PhenotypicFeature Enlarged vertebral pedicles Increased size of the vertebral pedicle. UMLS:C4025303 hp.json Hyperplastic vertebral pedicles http://purl.obolibrary.org/obo/HP_0004621 CHEBI:33541 biolink:ChemicalSubstance thiosulfate(1-) KEGG:C00320 hp.json HS2O3(-)|hydrogen sulfurothioate http://purl.obolibrary.org/obo/CHEBI_33541 3_STAR CHEBI:33543 biolink:ChemicalSubstance sulfonate The sulfur oxoanion formed by deprotonation of sulfonic acid. Gmelin:971569 hp.json hydridotrioxidosulfate(1-)|SHO3(-)|sulfonates|[SHO3](-) http://purl.obolibrary.org/obo/CHEBI_33543 3_STAR UBERON:0016529 biolink:AnatomicalEntity cortex of cerebral lobe Grey matter neocortex region of a lobe of the cerebral hemisphere. FMA:242197 hp.json neocortical part of cerebral hemisphere|cortex of lobe of cerebral hemisphere|gray matter of lobe of cerebral hemisphere|cortex of cerebral hemisphere lobe http://purl.obolibrary.org/obo/UBERON_0016529 PATO:0002014 biolink:NamedThing structure, cavities A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas. hp.json http://purl.obolibrary.org/obo/PATO_0002014 attribute_slim HP:0004626 biolink:PhenotypicFeature Lumbar scoliosis UMLS:C2748518 hp.json http://purl.obolibrary.org/obo/HP_0004626 UBERON:0016528 biolink:AnatomicalEntity white matter of frontal lobe A white matter of cerebral lobe that is part of a frontal lobe. FMA:256178 hp.json frontal lobe white matter http://purl.obolibrary.org/obo/UBERON_0016528 HP:0004625 biolink:PhenotypicFeature Biconvex vertebral bodies Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. UMLS:C1866675 hp.json http://purl.obolibrary.org/obo/HP_0004625 UBERON:0004554 biolink:AnatomicalEntity hindlimb digital artery A digital artery that is part of a hindlimb [Automatically generated definition]. MA:0001964|EMAPA:37214|FMA:69713 hp.json digital artery of foot|hindlimb digital arteries http://purl.obolibrary.org/obo/UBERON_0004554 UBERON:0004552 biolink:AnatomicalEntity digital artery An artery that is part of a digit [Automatically generated definition]. EMAPA:37076|MA:0001941 hp.json http://purl.obolibrary.org/obo/UBERON_0004552 UBERON:0004553 biolink:AnatomicalEntity forelimb digital artery A digital artery that is part of a forelimb [Automatically generated definition]. EMAPA:37210|MA:0001953 hp.json forelimb digital arteries|digital artery of manus|wing digital artery http://purl.obolibrary.org/obo/UBERON_0004553 HP:0100248 biolink:PhenotypicFeature Hemiballismus Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. SNOMEDCT_US:66637005|UMLS:C0221169|MSH:D020820 hp.json Ballismus http://purl.obolibrary.org/obo/HP_0100248 HP:0100249 biolink:PhenotypicFeature Calcification of muscles Deposition of calcium salts in muscle tissue. SNOMEDCT_US:446993003|UMLS:C2960760 hp.json Skeletal muscle calcinosis http://purl.obolibrary.org/obo/HP_0100249 HP:0100246 biolink:PhenotypicFeature Osteoma Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant. MSH:D010016|UMLS:C0029440|SNOMEDCT_US:302858007|SNOMEDCT_US:83612000|NCIT:C3296 hp.json http://purl.obolibrary.org/obo/HP_0100246 HP:0100247 biolink:PhenotypicFeature Recurrent singultus A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. MSH:D006606|SNOMEDCT_US:65958008|UMLS:C0744897|UMLS:C0019521 hp.json Hiccups|Recurrent hiccough|Recurrent synchronous diaphragmatic flutter|Hiccup|Recurrent hiccup http://purl.obolibrary.org/obo/HP_0100247 GO:0030017 biolink:CellularComponent sarcomere The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. Wikipedia:Sarcomere hp.json http://purl.obolibrary.org/obo/GO_0030017 HP:0100244 biolink:PhenotypicFeature Fibrosarcoma A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells. SNOMEDCT_US:443250000|NCIT:C6605|MSH:D005354|SNOMEDCT_US:53654007|UMLS:C0016057 hp.json http://purl.obolibrary.org/obo/HP_0100244 HP:0100245 biolink:PhenotypicFeature Desmoid tumors Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. SNOMEDCT_US:400055004|UMLS:C0079218|SNOMEDCT_US:399994005|SNOMEDCT_US:47284001|MSH:D018222|NCIT:C3042 hp.json Desmoid tumours http://purl.obolibrary.org/obo/HP_0100245 HP:0100242 biolink:PhenotypicFeature Sarcoma A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. SNOMEDCT_US:269469005|SNOMEDCT_US:424952003|UMLS:C1261473|SNOMEDCT_US:424413001|SNOMEDCT_US:2424003|MSH:D012509|NCIT:C9118 hp.json Malignant connective tissue tumor|Malignant connective tissue tumour|Cancer of connective tissue http://purl.obolibrary.org/obo/HP_0100242 HP:0100243 biolink:PhenotypicFeature Leiomyosarcoma A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma. SNOMEDCT_US:443719001|UMLS:C0023269|SNOMEDCT_US:51549004|NCIT:C3158|MSH:D007890 hp.json http://purl.obolibrary.org/obo/HP_0100243 GO:0030016 biolink:CellularComponent myofibril The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. Wikipedia:Myofibril hp.json http://purl.obolibrary.org/obo/GO_0030016 HP:0100240 biolink:PhenotypicFeature Synostosis of joints The abnormal fusion of neighboring bones across a joint. UMLS:C4022183 hp.json Fusion of joints|Bony ankylosis http://purl.obolibrary.org/obo/HP_0100240 HP:0100241 biolink:PhenotypicFeature Ectopic respiratory mucosa Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. UMLS:C4022182 hp.json http://purl.obolibrary.org/obo/HP_0100241 PATO:0002422 biolink:NamedThing acinar Pertaining to the individual parts making up an aggregate fruit like a many-lobed "berry," such as a raspberry. hp.json http://purl.obolibrary.org/obo/PATO_0002422 value_slim|mpath_slim GO:0030010 biolink:BiologicalProcess establishment of cell polarity The specification and formation of anisotropic intracellular organization or cell growth patterns. hp.json cell polarization|bud site selection/establishment of cell polarity http://purl.obolibrary.org/obo/GO_0030010 GO:0019693 biolink:BiologicalProcess ribose phosphate metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. hp.json ribose phosphate metabolism http://purl.obolibrary.org/obo/GO_0019693 HP:0100259 biolink:PhenotypicFeature Postaxial polydactyly A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. UMLS:C0220697|MSH:C562429 hp.json Postaxial hexadactyly|Polydactyly, postaxial http://purl.obolibrary.org/obo/HP_0100259 HP:0100257 biolink:PhenotypicFeature Ectrodactyly A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. SNOMEDCT_US:81208006|UMLS:C0265554|MSH:C574275|SNOMEDCT_US:13624003 hp.json Cleft hand|Lobster claw hand http://purl.obolibrary.org/obo/HP_0100257 hposlim_core HP:0100258 biolink:PhenotypicFeature Preaxial polydactyly A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. SNOMEDCT_US:205135003|UMLS:C0345354 hp.json Polydactyly, preaxial http://purl.obolibrary.org/obo/HP_0100258 HP:0100255 biolink:PhenotypicFeature Metaphyseal dysplasia The presence of dysplastic regions in metaphyseal regions. UMLS:C0265294|SNOMEDCT_US:27837003|MSH:C536252 hp.json http://purl.obolibrary.org/obo/HP_0100255 HP:0100256 biolink:PhenotypicFeature Senile plaques Senile plaques are extracellular deposits of amyloid in the gray matter of the brain. MSH:D058225|SNOMEDCT_US:38551001|UMLS:C0333463 hp.json Neuritic plaques|Senile druse|Braindruse http://purl.obolibrary.org/obo/HP_0100256 GO:0030004 biolink:BiologicalProcess cellular monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations at the level of a cell. hp.json http://purl.obolibrary.org/obo/GO_0030004 HP:0100253 biolink:PhenotypicFeature Abnormality of the medullary cavity of the long bones An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. UMLS:C4021027 hp.json Abnormality of the marrow cavity of the long bones http://purl.obolibrary.org/obo/HP_0100253 HP:0100254 biolink:PhenotypicFeature Stenosis of the medullary cavity of the long bones UMLS:C4022179 hp.json http://purl.obolibrary.org/obo/HP_0100254 HP:0100251 biolink:PhenotypicFeature Multiple central nervous system lipomas The presence of mulitple lipomas located in the central nervous system. UMLS:C4022180|NCIT:C3192 hp.json Lipomas of the central nervous system http://purl.obolibrary.org/obo/HP_0100251 HP:0100252 biolink:PhenotypicFeature Diaphyseal dysplasia SNOMEDCT_US:34643004|UMLS:C0011989|MSH:D003966|SNOMEDCT_US:318761000119105 hp.json http://purl.obolibrary.org/obo/HP_0100252 HP:0100250 biolink:PhenotypicFeature Meningeal calcification Calcium deposition affecting the Meninges. UMLS:C4022181 hp.json http://purl.obolibrary.org/obo/HP_0100250 GO:0017046 biolink:MolecularActivity peptide hormone binding Binding to a peptide with hormonal activity in animals. hp.json polypeptide hormone binding http://purl.obolibrary.org/obo/GO_0017046 GO:0030002 biolink:BiologicalProcess cellular anion homeostasis Any process involved in the maintenance of an internal steady state of anions at the level of a cell. hp.json http://purl.obolibrary.org/obo/GO_0030002 GO:0030003 biolink:BiologicalProcess cellular cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. hp.json http://purl.obolibrary.org/obo/GO_0030003 GO:0030001 biolink:BiologicalProcess metal ion transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json heavy metal ion transport|divalent metal ion transport|divalent metal ion export|metal ion export http://purl.obolibrary.org/obo/GO_0030001 HP:0100268 biolink:PhenotypicFeature Upper lip pit Depression located on the vermilion of the upper lip, usually paramedian. UMLS:C4022176 hp.json http://purl.obolibrary.org/obo/HP_0100268 HP:0100269 biolink:PhenotypicFeature Paramedian lip pit Depression located paramedially on the vermilion of a lip. UMLS:C4022175 hp.json Paramedian labial pits http://purl.obolibrary.org/obo/HP_0100269 HP:0100266 biolink:PhenotypicFeature Synostosis of carpals/tarsals The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. UMLS:C4021025 hp.json Wrist bone/ankle bone fusions|Fusion of carpal and tarsal bones|Carpal and tarsal fusions|Coalescence of carpal and tarsal bones http://purl.obolibrary.org/obo/HP_0100266 HP:0100267 biolink:PhenotypicFeature Lip pit A depression located on a lip. UMLS:C0341059 hp.json http://purl.obolibrary.org/obo/HP_0100267 hposlim_core HP:0100264 biolink:PhenotypicFeature Proximal symphalangism UMLS:C1861385|MSH:C536223 hp.json Cushing's symphalangism http://purl.obolibrary.org/obo/HP_0100264 HP:0100265 biolink:PhenotypicFeature Synostosis of metacarpals/metatarsals UMLS:C4022177 hp.json Fusion of long bones of hand/long bones of foot http://purl.obolibrary.org/obo/HP_0100265 HP:0100262 biolink:PhenotypicFeature Synostosis involving digits UMLS:C4022178 hp.json Fusion involving digits http://purl.obolibrary.org/obo/HP_0100262 HP:0100263 biolink:PhenotypicFeature Distal symphalangism UMLS:C1861401|MSH:C566099 hp.json Symphalangism, distal http://purl.obolibrary.org/obo/HP_0100263 HP:0100260 biolink:PhenotypicFeature Mesoaxial polydactyly The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. UMLS:C4020689|UMLS:C1848595 hp.json Intercalary polydactyly|Insertional polydactyly|Central polydactyly http://purl.obolibrary.org/obo/HP_0100260 HP:0100261 biolink:PhenotypicFeature Abnormal tendon morphology An abnormality of the structure or form of the tendons, also often called sinews. UMLS:C4021026 hp.json Abnormality of the sinew|Abnormal shape of tendon http://purl.obolibrary.org/obo/HP_0100261 PATO:0002444 biolink:NamedThing mineralized hp.json http://purl.obolibrary.org/obo/PATO_0002444 HP:0100279 biolink:PhenotypicFeature Ulcerative colitis A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon. UMLS:C0009324|MSH:D003093|SNOMEDCT_US:64766004 hp.json Colitis ulcerosa http://purl.obolibrary.org/obo/HP_0100279 HP:0100277 biolink:PhenotypicFeature Periauricular skin pits Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. UMLS:C4022171 hp.json Periauricular pits|Periauricular earpits|Pits around the ear|Periauricular sinus|Periauricular fistulas http://purl.obolibrary.org/obo/HP_0100277 HP:0100275 biolink:PhenotypicFeature Diffuse cerebellar atrophy Diffuse unlocalised atrophy affecting the cerebellum. UMLS:C1854699 hp.json http://purl.obolibrary.org/obo/HP_0100275 HP:0100276 biolink:PhenotypicFeature Skin pit A small, skin-lined tract that leads from the surface to deep within the tissues. UMLS:C4022172|UMLS:C4020712 hp.json Skin pit|Skin pits http://purl.obolibrary.org/obo/HP_0100276 HP:0100273 biolink:PhenotypicFeature Neoplasm of the colon MSH:D003110|NCIT:C3262|SNOMEDCT_US:126838000|UMLS:C0009375 hp.json Colon tumor|Colon tumour http://purl.obolibrary.org/obo/HP_0100273 RO:0002022 biolink:NamedThing directly regulated by hp.json http://purl.obolibrary.org/obo/RO_0002022 HP:0100274 biolink:PhenotypicFeature Gustatory lacrimation Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. UMLS:C1862052 hp.json http://purl.obolibrary.org/obo/HP_0100274 RO:0002023 biolink:NamedThing directly negatively regulated by Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1. hp.json http://purl.obolibrary.org/obo/RO_0002023 HP:0100271 biolink:PhenotypicFeature Hyponasal speech Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion. UMLS:C4022173 hp.json http://purl.obolibrary.org/obo/HP_0100271 RO:0002024 biolink:NamedThing directly positively regulated by Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1. hp.json http://purl.obolibrary.org/obo/RO_0002024 RO:0002025 biolink:NamedThing has effector activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. hp.json http://purl.obolibrary.org/obo/RO_0002025 HP:0100272 biolink:PhenotypicFeature Branchial sinus A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. UMLS:C0266624|SNOMEDCT_US:253259008 hp.json Branchial cleft sinus http://purl.obolibrary.org/obo/HP_0100272 HP:0100270 biolink:PhenotypicFeature Abnormality of dorsoventral patterning of the limbs An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs. UMLS:C4022174 hp.json http://purl.obolibrary.org/obo/HP_0100270 RO:0002021 biolink:NamedThing occurs across A relationship between a process and a barrier, where the process occurs in a region spanning the barrier. For cellular processes the barrier is typically a membrane. Examples include transport across a membrane and membrane depolarization. hp.json http://purl.obolibrary.org/obo/RO_0002021 RO:0002015 biolink:NamedThing has positive regulatory component activity A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B. hp.json http://purl.obolibrary.org/obo/RO_0002015 RO:0002017 biolink:NamedThing has component activity hp.json http://purl.obolibrary.org/obo/RO_0002017 RO:0002018 biolink:NamedThing has component process w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. hp.json http://purl.obolibrary.org/obo/RO_0002018 GO:0032642 biolink:BiologicalProcess regulation of chemokine production Any process that modulates the frequency, rate, or extent of chemokine production. hp.json regulation of chemokine secretion|regulation of chemokine biosynthetic process http://purl.obolibrary.org/obo/GO_0032642 HP:0100288 biolink:PhenotypicFeature EMG: myokymic discharges The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding. UMLS:C4022166 hp.json http://purl.obolibrary.org/obo/HP_0100288 HP:0100289 biolink:PhenotypicFeature Abnormality of pattern reversal visual evoked potentials UMLS:C4022165 hp.json Abnormality of pattern reversal VEP http://purl.obolibrary.org/obo/HP_0100289 HP:0100287 biolink:PhenotypicFeature EMG: slow motor conduction The presence of reduced conduction velocity of motor nerves on electromyography. UMLS:C4022167 hp.json http://purl.obolibrary.org/obo/HP_0100287 HP:0100284 biolink:PhenotypicFeature EMG: myotonic discharges High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. UMLS:C4022169 hp.json http://purl.obolibrary.org/obo/HP_0100284 HP:0100285 biolink:PhenotypicFeature EMG: impaired neuromuscular transmission An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). UMLS:C4022168 hp.json http://purl.obolibrary.org/obo/HP_0100285 RO:0002013 biolink:NamedThing has regulatory component activity A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B. RO:0002013 hp.json http://purl.obolibrary.org/obo/RO_0002013 HP:0100282 biolink:PhenotypicFeature Acute colitis An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum). UMLS:C2118460 hp.json http://purl.obolibrary.org/obo/HP_0100282 RO:0002014 biolink:NamedThing has negative regulatory component activity A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B. RO:0002014 hp.json http://purl.obolibrary.org/obo/RO_0002014 HP:0100283 biolink:PhenotypicFeature EMG: continuous motor unit activity at rest Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles. UMLS:C4022170 hp.json http://purl.obolibrary.org/obo/HP_0100283 HP:0100280 biolink:PhenotypicFeature Crohn's disease A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. MSH:D003424|UMLS:C0010346|SNOMEDCT_US:34000006 hp.json Morbus Crohn|Granulomatous enteritis and colitis http://purl.obolibrary.org/obo/HP_0100280 HP:0100281 biolink:PhenotypicFeature Chronic colitis A chronic inflammatory disease of the large intestine (colon, cecum and rectum). UMLS:C0267375|SNOMEDCT_US:54597004 hp.json http://purl.obolibrary.org/obo/HP_0100281 GO:0042044 biolink:NamedThing fluid transport hp.json http://purl.obolibrary.org/obo/GO_0042044 CHEBI:57485 biolink:ChemicalSubstance carnosine zwitterion Zwitterionic form of carnosine. Gmelin:397437|MetaCyc:CARNOSINE hp.json (2S)-2-[(3-azaniumylpropanoyl)amino]-3-(1H-imidazol-4-yl)propanoate|N(alpha)-(beta-alaniniumyl)-L-histidinate|carnosine http://purl.obolibrary.org/obo/CHEBI_57485 3_STAR RO:0002005 biolink:NamedThing innervated_by RO:0002005 hp.json http://purl.obolibrary.org/obo/RO_0002005 RO:0002007 biolink:NamedThing bounding layer of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 RO:0002007 hp.json http://purl.obolibrary.org/obo/RO_0002007 ro-eco UBERON:0006801 biolink:AnatomicalEntity proximal head of humerus Hemispherical structure on proximal epiphysis of humerus that articulates with glenoid cavity[WP,modified]. EMAPA:25050|UMLS:C0223683|FMA:13304|galen:HeadOfHumerus|AAO:0000835|NCIT:C32720 hp.json humeral head|head of humerus|caput humeri http://purl.obolibrary.org/obo/UBERON_0006801 pheno_slim UBERON:0006800 biolink:AnatomicalEntity anatomical line Non-material anatomical entity of one dimension, which forms a boundary of an anatomical surface or is a modulation of an anatomical surface. HAO:0000008|TAO:0001837|ZFA:0001689|FMA:9657|EHDAA2:0003008|XAO:0004003|TGMA:0001828|BILA:0000008|AEO:0000008|AAO:0010267|CARO:0000008 hp.json http://purl.obolibrary.org/obo/UBERON_0006800 upper_level HP:0100299 biolink:PhenotypicFeature Muscle fiber inclusion bodies UMLS:C4022159 hp.json Muscle fibre inclusion bodies http://purl.obolibrary.org/obo/HP_0100299 HP:0100297 biolink:PhenotypicFeature Increased endomysial connective tissue An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. UMLS:C4022161 hp.json Endomysial fibrosis http://purl.obolibrary.org/obo/HP_0100297 HP:0100298 biolink:PhenotypicFeature Motheaten muscle fibers UMLS:C4022160 hp.json Motheaten muscle fibres http://purl.obolibrary.org/obo/HP_0100298 RO:0002000 biolink:NamedThing 2D boundary of a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity hp.json http://purl.obolibrary.org/obo/RO_0002000 HP:0100295 biolink:PhenotypicFeature Muscle fiber atrophy UMLS:C0333751|SNOMEDCT_US:67867005 hp.json Muscle fibre degeneration|Muscle fiber degeneration|Muscle fibre atrophy http://purl.obolibrary.org/obo/HP_0100295 HP:0100296 biolink:PhenotypicFeature Perifascicular muscle fiber atrophy UMLS:C0333757|SNOMEDCT_US:87196003 hp.json Perifascicular muscle fibre atrophy http://purl.obolibrary.org/obo/HP_0100296 RO:0002002 biolink:NamedThing has 2D boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity RO:0002002 hp.json http://purl.obolibrary.org/obo/RO_0002002 HP:0100293 biolink:PhenotypicFeature Hypertrophied muscle fibers The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies. SNOMEDCT_US:42091004|UMLS:C0333759 hp.json Muscle fiber hypertrophy|Muscle fibre hypertrophy http://purl.obolibrary.org/obo/HP_0100293 GO:0042053 biolink:BiologicalProcess regulation of dopamine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving dopamine. hp.json regulation of dopamine metabolism http://purl.obolibrary.org/obo/GO_0042053 HP:0100291 biolink:PhenotypicFeature Abnormality of central somatosensory evoked potentials UMLS:C4022163 hp.json http://purl.obolibrary.org/obo/HP_0100291 HP:0100292 biolink:PhenotypicFeature Amyloidosis of peripheral nerves The presence of amyloid deposition in the nerves of the peripheral nervous system. UMLS:C4022162 hp.json http://purl.obolibrary.org/obo/HP_0100292 HP:0100290 biolink:PhenotypicFeature Abnormality of peripheral somatosensory evoked potentials UMLS:C4022164 hp.json http://purl.obolibrary.org/obo/HP_0100290 GO:0042060 biolink:BiologicalProcess wound healing The series of events that restore integrity to a damaged tissue, following an injury. Wikipedia:Wound_healing hp.json http://purl.obolibrary.org/obo/GO_0042060 goslim_generic PATO:0002403 biolink:NamedThing generalized Affecting all regions without specificity of distribution. hp.json generalised http://purl.obolibrary.org/obo/PATO_0002403 value_slim|mpath_slim|hpo_slim OBO:nbo#by_means biolink:NamedThing by_means hp.json http://purl.obolibrary.org/obo/nbo#by_means GO:0042069 biolink:BiologicalProcess regulation of catecholamine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving catecholamines. hp.json regulation of catecholamine metabolism http://purl.obolibrary.org/obo/GO_0042069 GO:0042063 biolink:BiologicalProcess gliogenesis The process that results in the generation of glial cells. This includes the production of glial progenitors and their differentiation into mature glia. hp.json glial cell generation http://purl.obolibrary.org/obo/GO_0042063 GO:0042065 biolink:BiologicalProcess glial cell growth Growth of glial cells, non-neuronal cells that provide support and nutrition, maintain homeostasis, form myelin, and participate in signal transmission in the nervous system. hp.json http://purl.obolibrary.org/obo/GO_0042065 CHEBI:33497 biolink:ChemicalSubstance transition element molecular entity A molecular entity containing one or more atoms of a transition element. hp.json transition metal molecular entity|transition element molecular entities http://purl.obolibrary.org/obo/CHEBI_33497 3_STAR GO:0019637 biolink:BiologicalProcess organophosphate metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. hp.json organophosphate metabolism http://purl.obolibrary.org/obo/GO_0019637 PATO:0002400 biolink:NamedThing fusiform Having a spindle-like shape that is wide in the middle and tapers at both ends. hp.json http://purl.obolibrary.org/obo/PATO_0002400 value_slim|mpath_slim GO:0042073 biolink:BiologicalProcess intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. Wikipedia:Intraflagellar_transport hp.json intraflagellar transport involved in cilium organization|intraflagellar transport|IFT|intraflagellar transport involved in microtubule-based flagellum organisation http://purl.obolibrary.org/obo/GO_0042073 GO:0032602 biolink:BiologicalProcess chemokine production The appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. All chemokines possess a number of conserved cysteine residues involved in intramolecular disulfide bond formation. Some chemokines are considered pro-inflammatory and can be induced during an immune response to recruit cells of the immune system to a site of infection, while others are considered homeostatic and are involved in controlling the migration of cells during normal processes of tissue maintenance or development. Chemokines are found in all vertebrates, some viruses and some bacteria. hp.json chemokine metabolic process|chemokine anabolism|chemokine synthesis|chemokine biosynthetic process|chemokine formation|chemokine secretion|chemokine biosynthesis http://purl.obolibrary.org/obo/GO_0032602 gocheck_do_not_annotate GO:0042078 biolink:BiologicalProcess germ-line stem cell division The self-renewing division of a germline stem cell to produce a daughter stem cell and a daughter germ cell, which will divide to form the gametes. hp.json germ-line stem cell renewal http://purl.obolibrary.org/obo/GO_0042078 PATO:0002418 biolink:NamedThing acidophilic An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for acidic dyes under specific pH conditions. hp.json http://purl.obolibrary.org/obo/PATO_0002418 value_slim|mpath_slim GO:0042074 biolink:BiologicalProcess cell migration involved in gastrulation The migration of individual cells within the blastocyst to help establish the multi-layered body plan of the organism (gastrulation). For example, the migration of cells from the surface to the interior of the embryo (ingression). hp.json http://purl.obolibrary.org/obo/GO_0042074 NBO:0000455 biolink:NamedThing attention behavior "The sustained focus of cognitive resources on information while filtering or ignoring extraneous information. Intended to encompass only attention to perceptual stimuli. " [wikipedia:Attention] hp.json http://purl.obolibrary.org/obo/NBO_0000455 HP:0004399 biolink:PhenotypicFeature Congenital pyloric atresia Congenital atresia of the pylorus. UMLS:C4025327 hp.json http://purl.obolibrary.org/obo/HP_0004399 hposlim_core HP:0004394 biolink:PhenotypicFeature Multiple gastric polyps SNOMEDCT_US:87252009|MSH:C562464|SNOMEDCT_US:78809005|UMLS:C0236048 hp.json http://purl.obolibrary.org/obo/HP_0004394 HP:0004392 biolink:PhenotypicFeature Prune belly A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. UMLS:C0033770|SNOMEDCT_US:5187006|MSH:D011535 hp.json Prune belly http://purl.obolibrary.org/obo/HP_0004392 GO:0030099 biolink:BiologicalProcess myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. hp.json http://purl.obolibrary.org/obo/GO_0030099 GO:0030097 biolink:BiologicalProcess hemopoiesis The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. Wikipedia:Haematopoiesis hp.json blood cell formation|hematopoiesis|blood cell biosynthesis|haemopoiesis http://purl.obolibrary.org/obo/GO_0030097 HP:0004398 biolink:PhenotypicFeature Peptic ulcer The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. UMLS:C0030920|SNOMEDCT_US:13200003|MSH:D010437 hp.json Sore in the lining of gastrointestinal tract http://purl.obolibrary.org/obo/HP_0004398 GO:0030098 biolink:BiologicalProcess lymphocyte differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. hp.json lymphocytic blood cell differentiation|lymphocyte cell differentiation|lymphocyte development http://purl.obolibrary.org/obo/GO_0030098 HP:0004397 biolink:PhenotypicFeature Ectopic anus Abnormal displacement or malposition of the anus. SNOMEDCT_US:5153001|UMLS:C0266231 hp.json Abnormal anus position|Anus malposition http://purl.obolibrary.org/obo/HP_0004397 hposlim_core HP:0004396 biolink:PhenotypicFeature Poor appetite A reduced desire to eat. UMLS:C0232462|SNOMEDCT_US:64379006 hp.json Poor appetite|Decreased appetite|No appetite|Loss of appetite http://purl.obolibrary.org/obo/HP_0004396 HP:0004395 biolink:PhenotypicFeature Malnutrition A deficiency in the intake of energy and nutrients. SNOMEDCT_US:47563007|MSH:D044342|SNOMEDCT_US:248325000|SNOMEDCT_US:2492009|SNOMEDCT_US:70241007|SNOMEDCT_US:65404009|UMLS:C0162429 hp.json Malnutrition http://purl.obolibrary.org/obo/HP_0004395 NBO:0000469 biolink:NamedThing stress related behavior "Behavior related to how the body reacts to a stressor ( a stimulus that causes stress), real or imagined." [wikipedia:Stress_(biological)] hp.json http://purl.obolibrary.org/obo/NBO_0000469 NBO:0000474 biolink:NamedThing circadian behavior phenotype hp.json pathological circadian behaviour http://purl.obolibrary.org/obo/NBO_0000474 NBO:0000473 biolink:NamedThing rhythmic behavior phenotype hp.json http://purl.obolibrary.org/obo/NBO_0000473 GO:0030072 biolink:BiologicalProcess peptide hormone secretion The regulated release of a peptide hormone from a cell. hp.json http://purl.obolibrary.org/obo/GO_0030072 HP:0004379 biolink:PhenotypicFeature Abnormality of alkaline phosphatase level An abnormality of alkaline phosphatase level. UMLS:C4025328|UMLS:C4020829 hp.json Abnormality of ALP level|Alkaline phosphatase abnormal|Abnormality of alkaline phosphatase activity http://purl.obolibrary.org/obo/HP_0004379 HP:0004378 biolink:PhenotypicFeature Abnormality of the anus Abnormality of the anal canal. UMLS:C4025329 hp.json Abnormality of the anus http://purl.obolibrary.org/obo/HP_0004378 HP:0004377 biolink:PhenotypicFeature Hematological neoplasm Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). SNOMEDCT_US:129154003|SNOMEDCT_US:269475001|UMLS:C0376545|MSH:D019337 hp.json Blood tumor|Blood tumour|Haematological neoplasm http://purl.obolibrary.org/obo/HP_0004377 HP:0004372 biolink:PhenotypicFeature Reduced consciousness/confusion UMLS:C0234428|SNOMEDCT_US:3006004 hp.json Disturbances of consciousness|Lowered consciousness|Reduced consciousness/confusion http://purl.obolibrary.org/obo/HP_0004372 HP:0004371 biolink:PhenotypicFeature Abnormality of glycosaminoglycan metabolism Abnormality of glycosaminoglycan metabolism. UMLS:C4025330 hp.json http://purl.obolibrary.org/obo/HP_0004371 HP:0004370 biolink:PhenotypicFeature Abnormality of temperature regulation An abnormality of temperature homeostasis. MSH:D001832|UMLS:C0005904|UMLS:C1832160 hp.json Abnormality of temperature regulation|Poor temperature regulation|Body temperature changes http://purl.obolibrary.org/obo/HP_0004370 HP:0004376 biolink:PhenotypicFeature Neuroblastic tumor A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. UMLS:C1334953 hp.json Neuroblastic tumour http://purl.obolibrary.org/obo/HP_0004376 HP:0004375 biolink:PhenotypicFeature Neoplasm of the nervous system A tumor (abnormal growth of tissue) of the nervous system. NCIT:C3262|SNOMEDCT_US:126950007|UMLS:C0027766|MSH:D009423 hp.json Tumour of the nervous system|Tumor of the nervous system|Neoplasia of the nervous system|Nervous system cancer http://purl.obolibrary.org/obo/HP_0004375 HP:0004374 biolink:PhenotypicFeature Hemiplegia/hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. UMLS:C0375206 hp.json Paralysis or weakness of one side of body http://purl.obolibrary.org/obo/HP_0004374 GO:0030073 biolink:NamedThing insulin secretion hp.json http://purl.obolibrary.org/obo/GO_0030073 HP:0004373 biolink:PhenotypicFeature Focal dystonia A type of dystonia that is localized to a specific part of the body. UMLS:C0743332|SNOMEDCT_US:445006008|MSH:D020821 hp.json http://purl.obolibrary.org/obo/HP_0004373 HP:0004390 biolink:PhenotypicFeature Hamartomatous polyposis Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. UMLS:C0334092|SNOMEDCT_US:27391005|UMLS:C3277418 hp.json Gastrointestinal hamartomatous polyps|Gastrointestinal hamartoma|Hamartomatous polyps http://purl.obolibrary.org/obo/HP_0004390 NBO:0000446 biolink:NamedThing visual pursuit "Selectively track a moving object." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000446 NBO:0000444 biolink:NamedThing eye movement hp.json http://purl.obolibrary.org/obo/NBO_0000444 UBERON:0004190 biolink:AnatomicalEntity renal glomerulus vasculature The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. hp.json glomerulus vasculature|renal glomerulus vasculature|renal glomerulus vascular network|vasculature of renal glomerulus|vascular network of renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004190 human_reference_atlas GO:0140513 biolink:CellularComponent nuclear protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together in the nucleus. hp.json nuclear complex http://purl.obolibrary.org/obo/GO_0140513 gocheck_do_not_annotate UBERON:0004198 biolink:AnatomicalEntity comma-shaped body The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron. ZFA:0005588|EMAPA:27681 hp.json CSB http://purl.obolibrary.org/obo/UBERON_0004198 pheno_slim UBERON:0004199 biolink:AnatomicalEntity S-shaped body The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron. ZFA:0005589|EMAPA:27756 hp.json stage II nephron|SSB http://purl.obolibrary.org/obo/UBERON_0004199 pheno_slim HP:0004389 biolink:PhenotypicFeature Intestinal pseudo-obstruction A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. UMLS:C0021847|MSH:D007418|SNOMEDCT_US:235825006|SNOMEDCT_US:715201005 hp.json Intestinal pseudoobstruction http://purl.obolibrary.org/obo/HP_0004389 HP:0004388 biolink:PhenotypicFeature Microcolon A colon of abnormally small caliber. SNOMEDCT_US:18389004|MSH:C562563|UMLS:C0266200|UMLS:C3553395 hp.json Microcolon on contrast enema http://purl.obolibrary.org/obo/HP_0004388 HP:0004383 biolink:PhenotypicFeature Hypoplastic left heart Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. MSH:D018636|UMLS:C0152101|SNOMEDCT_US:62067003 hp.json Underdeveloped left heart|Left ventricular hypoplasia|Heart left ventricle hypoplasia http://purl.obolibrary.org/obo/HP_0004383 HP:0004382 biolink:PhenotypicFeature Mitral valve calcification Abnormal calcification of the mitral valve. SNOMEDCT_US:473372009|UMLS:C0919718 hp.json http://purl.obolibrary.org/obo/HP_0004382 HP:0004381 biolink:PhenotypicFeature Supravalvular aortic stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. SNOMEDCT_US:268185002|UMLS:C0003499|MSH:D021921|Fyler:1430 hp.json http://purl.obolibrary.org/obo/HP_0004381 HP:0004380 biolink:PhenotypicFeature Aortic valve calcification Deposition of calcium salts in the aortic valve. MSH:C562942|SNOMEDCT_US:250978003|UMLS:C0428791 hp.json http://purl.obolibrary.org/obo/HP_0004380 HP:0004387 biolink:PhenotypicFeature Enterocolitis An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). MSH:D004760|UMLS:C0014356|SNOMEDCT_US:43752006 hp.json http://purl.obolibrary.org/obo/HP_0004387 HP:0004386 biolink:PhenotypicFeature Gastrointestinal inflammation Inflammation of the alimentary part of the gastrointestinal system. UMLS:C1535950 hp.json GI inflammation|Gastrointestinal inflammation http://purl.obolibrary.org/obo/HP_0004386 HP:0004385 biolink:PhenotypicFeature Protracted diarrhea UMLS:C0473133|SNOMEDCT_US:236077008 hp.json Protracted diarrhoea http://purl.obolibrary.org/obo/HP_0004385 HP:0004384 biolink:PhenotypicFeature Type I truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries. Fyler:510|UMLS:C1834934|Fyler:0510 hp.json Persistent truncus arteriosus type I|Type 1 truncus arteriosus http://purl.obolibrary.org/obo/HP_0004384 HP:0100204 biolink:PhenotypicFeature Cone-shaped epiphysis of the distal phalanx of the 5th toe UMLS:C4022217 hp.json Cone-shaped end part of the outermost bone of the little toe|Cone-shaped end part of the outermost bone of the pinkie toe|Cone-shaped end part of the outermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100204 HP:0100205 biolink:PhenotypicFeature Enlarged epiphysis of the distal phalanx of the 5th toe UMLS:C4022216 hp.json Enlarged end part of the outermost bone of the pinky toe|Enlarged end part of the outermost bone of the little toe|Enlarged end part of the outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100205 HP:0100202 biolink:PhenotypicFeature Absent epiphysis of the distal phalanx of the 5th toe UMLS:C4022219 hp.json Absent end part of the outermost bone of the pinky toe|Absent end part of the outermost bone of the little toe|Absent end part of the outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100202 HP:0100203 biolink:PhenotypicFeature Bracket epiphysis of the distal phalanx of the 5th toe UMLS:C4022218 hp.json Bracket shaped end part of the outermost bone of the pinkie toe|Bracket shaped end part of the outermost bone of the pinky toe|Bracket shaped end part of the outermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100203 HP:0100200 biolink:PhenotypicFeature Stippling of the epiphysis of the proximal phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe. UMLS:C4022221 hp.json Speckled calcifications in the end part of the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100200 HP:0100201 biolink:PhenotypicFeature Triangular epiphysis of the proximal phalanx of the 4th toe UMLS:C4022220 hp.json Triangular end part of the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100201 NBO:0000499 biolink:NamedThing NREM parasomnia "A type of parasomnia that occurs during NREM sleep." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000499 HP:0031980 biolink:PhenotypicFeature Abnormal urine carboxylic acid level Any deviation from the normal concentration of a carboxylic acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0031980 HP:0031981 biolink:PhenotypicFeature Elevated urine glycolate An increased concentration of glycolate in the urine. hp.json http://purl.obolibrary.org/obo/HP_0031981 HP:0031982 biolink:PhenotypicFeature Abnormal putamen morphology Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum. hp.json http://purl.obolibrary.org/obo/HP_0031982 HP:0031983 biolink:PhenotypicFeature Abnormal pulmonary thoracic imaging finding This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. hp.json Abnormal chest radiograph finding (lung) http://purl.obolibrary.org/obo/HP_0031983 HP:0031988 biolink:PhenotypicFeature obsolete Muscle spasm hp.json http://purl.obolibrary.org/obo/HP_0031988 HP:0031989 biolink:PhenotypicFeature Perioral spasm A sudden involuntary contraction of the musculature surrounding the mouth. hp.json http://purl.obolibrary.org/obo/HP_0031989 HP:0031984 biolink:PhenotypicFeature Esophageal food impaction A piece of food that has gotten stuck in the esophagus and prevents further swallowing. hp.json http://purl.obolibrary.org/obo/HP_0031984 HP:0031985 biolink:PhenotypicFeature Esophageal exudate An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa. hp.json http://purl.obolibrary.org/obo/HP_0031985 HP:0031986 biolink:PhenotypicFeature Polyminimyoclonus Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant. hp.json http://purl.obolibrary.org/obo/HP_0031986 HP:0031987 biolink:PhenotypicFeature Diminished ability to concentrate Being unable to focus one's attention or mental effort on a particular object or activity. hp.json Lack of concentration|Concentration problems|Poor concentration http://purl.obolibrary.org/obo/HP_0031987 HP:0100208 biolink:PhenotypicFeature Ivory epiphysis of the distal phalanx of the 5th toe UMLS:C4022213 hp.json Increased bone density of end part of the outermost bone of the little toe|Increased bone density of end part of the outermost bone of the pinkie toe|Increased bone density of end part of the outermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100208 HP:0100209 biolink:PhenotypicFeature Pseudoepiphysis of the distal phalanx of the 5th toe UMLS:C4022212 hp.json http://purl.obolibrary.org/obo/HP_0100209 GO:0030054 biolink:CellularComponent cell junction A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. Wikipedia:Cell_junction hp.json http://purl.obolibrary.org/obo/GO_0030054 goslim_agr|goslim_flybase_ribbon|goslim_drosophila HP:0100206 biolink:PhenotypicFeature Fragmentation of the epiphysis of the distal phalanx of the 5th toe UMLS:C4022215 hp.json Fragmentation of the end part of the outermost bone of the pinky toe|Fragmentation of the end part of the outermost bone of the little toe|Fragmentation of the end part of the outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100206 HP:0100207 biolink:PhenotypicFeature Irregular epiphysis of the distal phalanx of the 5th toe UMLS:C4022214 hp.json Irregular end part of the outermost bone of the pinky toe|Irregular end part of the outermost bone of the little toe|Irregular end part of the outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100207 HP:0100215 biolink:PhenotypicFeature Cone-shaped epiphysis of the middle phalanx of the 5th toe UMLS:C4022206 hp.json Cone-shaped end part of the middle bone of the pinky toe|Cone-shaped end part of the middle bone of the little toe|Cone-shaped end part of the middle bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100215 HP:0100216 biolink:PhenotypicFeature Enlarged epiphysis of the middle phalanx of the 5th toe UMLS:C4022205 hp.json Enlarged end part of the middle bone of the little toe|Enlarged end part of the middle bone of the pinkie toe|Enlarged end part of the middle bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100216 HP:0100213 biolink:PhenotypicFeature Absent epiphysis of the middle phalanx of the 5th toe UMLS:C4022208 hp.json Absent end part of the middle bone of the pinky toe|Absent end part of the middle bone of the pinkie toe|Absent end part of the middle bone of the little toe http://purl.obolibrary.org/obo/HP_0100213 HP:0100214 biolink:PhenotypicFeature Bracket epiphysis of the middle phalanx of the 5th toe UMLS:C4022207 hp.json Bracket shaped end part of the middle bone of the pinkie toe|Bracket shaped end part of the middle bone of the pinky toe|Bracket shaped end part of the middle bone of the little toe http://purl.obolibrary.org/obo/HP_0100214 HP:0100211 biolink:PhenotypicFeature Stippling of the epiphysis of the distal phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe. UMLS:C4022210 hp.json Speckled calcifications in the end part of the outermost bone of the little toe|Speckled calcifications in the end part of the outermost bone of the pinky toe|Speckled calcifications in the end part of the outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100211 HP:0100212 biolink:PhenotypicFeature Triangular epiphysis of the distal phalanx of the 5th toe UMLS:C4022209 hp.json Triangular end part of the outermost bone of the little toe|Triangular end part of the outermost bone of the pinky toe|Triangular end part of the outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100212 HP:0100210 biolink:PhenotypicFeature Small epiphysis of the distal phalanx of the 5th toe UMLS:C4022211 hp.json Small end part of the outermost bone of the little toe|Small end part of the outermost bone of the pinky toe|Small end part of the outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100210 HP:0031991 biolink:PhenotypicFeature Increased urinary excretion of galactosyl hydroxylysine An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption. hp.json http://purl.obolibrary.org/obo/HP_0031991 HP:0031992 biolink:PhenotypicFeature Apical hypertrophic cardiomyopathy Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity. hp.json http://purl.obolibrary.org/obo/HP_0031992 HP:0031993 biolink:PhenotypicFeature Hoffmann sign A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. hp.json Hoffmann's sign http://purl.obolibrary.org/obo/HP_0031993 HP:0031994 biolink:PhenotypicFeature Bronchial breath sound Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy. hp.json http://purl.obolibrary.org/obo/HP_0031994 HP:0031990 biolink:PhenotypicFeature Chvostek sign A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve. hp.json http://purl.obolibrary.org/obo/HP_0031990 HP:0031999 biolink:PhenotypicFeature Expiratory crackles Crackles that occur during expiration. hp.json http://purl.obolibrary.org/obo/HP_0031999 HP:0031995 biolink:PhenotypicFeature Squawks Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles. hp.json http://purl.obolibrary.org/obo/HP_0031995 HP:0031996 biolink:PhenotypicFeature Inspiratory crackles Crackles that are heard during the inspiratory phase. hp.json http://purl.obolibrary.org/obo/HP_0031996 HP:0031997 biolink:PhenotypicFeature Early inspiratory crackles Crackles that appear at the beginning of inspiration and end before mid-inspiration. hp.json http://purl.obolibrary.org/obo/HP_0031997 HP:0031998 biolink:PhenotypicFeature Late inspiratory crackles Crackles that appear any time after the beginning of inspiration and last till the end of inspiration. hp.json http://purl.obolibrary.org/obo/HP_0031998 HP:0100219 biolink:PhenotypicFeature Ivory epiphysis of the middle phalanx of the 5th toe UMLS:C4022202 hp.json Increased bone density of end part of the middle bone of the pinkie toe|Increased bone density of end part of the middle bone of the pinky toe|Increased bone density of end part of the middle bone of the little toe http://purl.obolibrary.org/obo/HP_0100219 GO:0017085 biolink:BiologicalProcess response to insecticide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insecticide stimulus. Insecticides are chemicals used to kill insects. hp.json insecticide susceptibility/resistance|insecticide resistance http://purl.obolibrary.org/obo/GO_0017085 HP:0100217 biolink:PhenotypicFeature Fragmentation of the epiphysis of the middle phalanx of the 5th toe UMLS:C4022204 hp.json Fragmentation of the end part of the middle bone of the little toe|Fragmentation of the end part of the middle bone of the pinkie toe|Fragmentation of the end part of the middle bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100217 HP:0100218 biolink:PhenotypicFeature Irregular epiphysis of the middle phalanx of the 5th toe UMLS:C4022203 hp.json Irregular end part of the middle bone of the little toe|Irregular end part of the middle bone of the pinkie toe|Irregular end part of the middle bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100218 HP:0100226 biolink:PhenotypicFeature Cone-shaped epiphysis of the proximal phalanx of the 5th toe UMLS:C4022195 hp.json Cone-shaped end part of the innermost bone of the pinky toe|Cone-shaped end part of the innermost bone of the little toe|Cone-shaped end part of the innermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100226 HP:0100227 biolink:PhenotypicFeature Enlarged epiphysis of the proximal phalanx of the 5th toe UMLS:C4022194 hp.json Enlarged end part of the innermost bone of the pinkie toe|Enlarged end part of the innermost bone of the pinky toe|Enlarged end part of the innermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100227 HP:0100224 biolink:PhenotypicFeature Absent epiphysis of the proximal phalanx of the 5th toe UMLS:C4022197 hp.json Absent end part of the innermost bone of the little toe|Absent end part of the innermost bone of the pinkie toe|Absent end part of the innermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100224 HP:0100225 biolink:PhenotypicFeature Bracket epiphysis of the proximal phalanx of the 5th toe UMLS:C4022196 hp.json Bracket shaped end part of the innermost bone of the little toe|Bracket shaped end part of the innermost bone of the pinky toe|Bracket shaped end part of the innermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100225 HP:0100222 biolink:PhenotypicFeature Stippling of the epiphysis of the middle phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe. UMLS:C4022199 hp.json Speckled calcifications in end part of the innermost bone of the pinkie toe|Speckled calcifications in middle part of the innermost bone of the little toe|Speckled calcifications in middle part of the innermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100222 HP:0100223 biolink:PhenotypicFeature Triangular epiphysis of the middle phalanx of the 5th toe UMLS:C4022198 hp.json Triangular end part of the middle bone of the pinkie toe|Triangular end part of the middle bone of the pinky toe|Triangular end part of the middle bone of the little toe http://purl.obolibrary.org/obo/HP_0100223 HP:0100220 biolink:PhenotypicFeature Pseudoepiphysis of the middle phalanx of the 5th toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe. UMLS:C4022201 hp.json http://purl.obolibrary.org/obo/HP_0100220 HP:0100221 biolink:PhenotypicFeature Small epiphysis of the middle phalanx of the 5th toe UMLS:C4022200 hp.json Small end part of the middle bone of the pinkie toe|Small end part of the middle bone of the pinky toe|Small end part of the middle bone of the little toe http://purl.obolibrary.org/obo/HP_0100221 GO:0030036 biolink:BiologicalProcess actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. hp.json actin cytoskeleton organization and biogenesis|actin cytoskeleton organisation|actin modulating activity http://purl.obolibrary.org/obo/GO_0030036 goslim_pombe GO:0030031 biolink:BiologicalProcess cell projection assembly Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. hp.json cell projection biogenesis|formation of a cell surface projection http://purl.obolibrary.org/obo/GO_0030031 HP:0100228 biolink:PhenotypicFeature Fragmentation of the epiphysis of the proximal phalanx of the 5th toe UMLS:C4022193 hp.json Fragmentation of the end part of the innermost bone of the pinky toe|Fragmentation of the end part of the innermost bone of the pinkie toe|Fragmentation of the end part of the innermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100228 GO:0030030 biolink:BiologicalProcess cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. hp.json cell surface structure organization and biogenesis|cell projection organisation|cell projection organization and biogenesis http://purl.obolibrary.org/obo/GO_0030030 HP:0100229 biolink:PhenotypicFeature Irregular epiphysis of the proximal phalanx of the 5th toe UMLS:C4022192 hp.json Irregular end part of the innermost bone of the pinky toe|Irregular end part of the innermost bone of the pinkie toe|Irregular end part of the innermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100229 HP:0100237 biolink:PhenotypicFeature Proximal foot symphalangism UMLS:C4022185 hp.json http://purl.obolibrary.org/obo/HP_0100237 CHEBI:139590 biolink:ChemicalSubstance primary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a -CH2 (methylene) group. hp.json primary alpha-hydroxy ketones|primary alpha-hydroxy-ketone|primary alpha-hydroxyketones|primary alpha-hydroxyketone|primary alpha-hydroxy-ketones http://purl.obolibrary.org/obo/CHEBI_139590 3_STAR HP:0100238 biolink:PhenotypicFeature Synostosis involving bones of the upper limbs An abnormal union between bones or parts of bones of the upper limbs. UMLS:C4022184 hp.json Fusion involving bones of the upper limbs http://purl.obolibrary.org/obo/HP_0100238 HP:0100235 biolink:PhenotypicFeature Synostosis involving bones of the toes UMLS:C4022186 hp.json Fusion involving bones of the toes http://purl.obolibrary.org/obo/HP_0100235 CHEBI:139592 biolink:ChemicalSubstance tertiary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. hp.json tertiary alpha-hydroxy-ketones|tertiary alpha-hydroxy ketones|tertiary alpha-hydroxy-ketone|tertiary alpha-hydroxyketones|tertiary alpha-hydroxyketone http://purl.obolibrary.org/obo/CHEBI_139592 3_STAR HP:0100233 biolink:PhenotypicFeature Stippling of the epiphysis of the proximal phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe. UMLS:C4022188 hp.json Speckled calcifications in the end part of the innermost bone of the pinkie toe|Speckled calcifications in the end part of the innermost bone of the pinky toe|Speckled calcifications in the end part of the innermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100233 GO:0030029 biolink:BiologicalProcess actin filament-based process Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. hp.json microfilament-based process http://purl.obolibrary.org/obo/GO_0030029 HP:0100234 biolink:PhenotypicFeature Triangular epiphysis of the proximal phalanx of the 5th toe UMLS:C4022187 hp.json Triangular end part of the innermost bone of the pinkie toe|Triangular end part of the innermost bone of the pinky toe|Triangular end part of the innermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100234 HP:0100231 biolink:PhenotypicFeature Pseudoepiphysis of the proximal phalanx of the 5th toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe. UMLS:C4022190 hp.json http://purl.obolibrary.org/obo/HP_0100231 HP:0100232 biolink:PhenotypicFeature Small epiphysis of the proximal phalanx of the 5th toe UMLS:C4022189 hp.json Small end part of the innermost bone of the pinkie toe|Small end part of the innermost bone of the pinky toe|Small end part of the innermost bone of the little toe http://purl.obolibrary.org/obo/HP_0100232 OBO:uberon/core#transitively_distally_connected_to biolink:NamedThing transitively distally connected to . hp.json http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to HP:0100230 biolink:PhenotypicFeature Ivory epiphysis of the proximal phalanx of the 5th toe UMLS:C4022191 hp.json Increased bone density of end part of the innermost bone of the pinky toe|Increased bone density of end part of the innermost bone of the little toe|Increased bone density of end part of the innermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100230 CHEBI:139588 biolink:ChemicalSubstance alpha-hydroxy ketone An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. PMID:23295224|PMID:15326516|PMID:20382022|PMID:19908854 hp.json alpha-hydroxyketone|alpha-hydroxy-ketones|alpha-hydroxy ketones|alpha-hydroxy-ketone|alpha-hydroxyketones http://purl.obolibrary.org/obo/CHEBI_139588 3_STAR NBO:0000493 biolink:NamedThing parasomnia "A sleeping behavior phenotype that involve abnormal and unnatural movements, emotions, perceptions, and dreams that occur while falling asleep, sleeping, between sleep stages, or during arousal from sleep." [wikipedia:Parasomnia] hp.json http://purl.obolibrary.org/obo/NBO_0000493 GO:0032682 biolink:BiologicalProcess negative regulation of chemokine production Any process that stops, prevents, or reduces the frequency, rate, or extent of chemokine production. hp.json down regulation of chemokine production|inhibition of chemokine production|down-regulation of chemokine production|negative regulation of chemokine biosynthetic process|downregulation of chemokine production|negative regulation of chemokine secretion http://purl.obolibrary.org/obo/GO_0032682 HP:0004319 biolink:PhenotypicFeature Decreased circulating aldosterone level Abnormally reduced levels of aldosterone. SNOMEDCT_US:60086000|UMLS:C0020595|MSH:D006994|UMLS:C0857899|UMLS:C1846226 hp.json Mineralocorticoid insufficiency|Decreased aldosterone production|Decreased serum aldosterone|Low blood aldosterone level|Hypoaldosteronism|Decreased aldosterone http://purl.obolibrary.org/obo/HP_0004319 UBERON:0004264 biolink:AnatomicalEntity lower leg skin A zone of skin that is part of a lower leg [Automatically generated definition]. EMAPA:18156|MA:0000680 hp.json hind limb zeugopod skin|hind limb middle limb segment skin http://purl.obolibrary.org/obo/UBERON_0004264 HP:0031944 biolink:PhenotypicFeature Pleural thickening An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. hp.json Pleural incrassation http://purl.obolibrary.org/obo/HP_0031944 HP:0006977 biolink:PhenotypicFeature Grammar-specific speech disorder UMLS:C4024956 hp.json Grammar-specific speech disorder http://purl.obolibrary.org/obo/HP_0006977 HP:0004313 biolink:PhenotypicFeature Decreased circulating antibody level An abnormally decreased level of immunoglobulin in blood. MSH:D000361|SNOMEDCT_US:119250001|UMLS:C4048270|UMLS:C0086438 hp.json Decreased immunoglobulin level|Decreased antibody level in blood|Reduced immunoglobulin levels|Hypogammaglobulinemia|Immunoglobulin deficiency|Decreased serum immunoglobulin http://purl.obolibrary.org/obo/HP_0004313 HP:0006978 biolink:PhenotypicFeature Dysmyelinating leukodystrophy UMLS:C3278204 hp.json http://purl.obolibrary.org/obo/HP_0006978 UBERON:0004265 biolink:AnatomicalEntity outflow tract myocardium A myocardium that is part of a outflow tract [Automatically generated definition]. MA:0000489|EHDAA2:0001358|VHOG:0000603|EMAPA:35623 hp.json cardiac muscle of outflow tract|heart myocardium of outflow tract|outflow tract muscle of heart|heart muscle of outflow tract|outflow tract heart muscle|muscle of heart of outflow tract|myocardium of outflow tract|outflow tract heart myocardium|outflow tract cardiac muscle http://purl.obolibrary.org/obo/UBERON_0004265 HP:0031945 biolink:PhenotypicFeature Elevated circulating N,N-dimethylglycine concentration An increased concentration of N,N-dimethylglycine in the circulation. hp.json Elevated N,N-dimethylglycine level http://purl.obolibrary.org/obo/HP_0031945 HP:0004312 biolink:PhenotypicFeature Abnormal reticulocyte morphology A reticulocyte abnormality. UMLS:C4025358 hp.json Abnormality of reticulocytes http://purl.obolibrary.org/obo/HP_0004312 UBERON:0004262 biolink:AnatomicalEntity upper leg skin A zone of skin that is part of a hindlimb stylopod [Automatically generated definition]. EMAPA:18159|MA:0000686|FMA:37790 hp.json thigh skin|hind limb stylopod skin|skin of thigh|hindlimb stylopod skin|skin of upper leg http://purl.obolibrary.org/obo/UBERON_0004262 HP:0031946 biolink:PhenotypicFeature Elevated urinary N,N-dimethylglycine level An increased concentration of N,N-dimethylglycine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0031946 HP:0006979 biolink:PhenotypicFeature Sleep-wake cycle disturbance Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake. UMLS:C1833362 hp.json Sleep-wake cycle disturbance http://purl.obolibrary.org/obo/HP_0006979 UBERON:0004263 biolink:AnatomicalEntity upper arm skin A zone of skin that is part of a forelimb stylopod [Automatically generated definition]. FMA:37721|MA:0000608|EMAPA:18062 hp.json skin of arm stylopod|arm stylopod skin|skin of upper arm http://purl.obolibrary.org/obo/UBERON_0004263 HP:0004311 biolink:PhenotypicFeature Abnormal macrophage morphology An abnormality of macrophages. UMLS:C4021661 hp.json Abnormality of macrophages|Abnormality of histiocytes http://purl.obolibrary.org/obo/HP_0004311 HP:0031947 biolink:PhenotypicFeature Tongue tremor An unintentional, oscillating to-and-fro muscle movement affecting the tongue. hp.json Jerky movements of the tongue http://purl.obolibrary.org/obo/HP_0031947 UBERON:0004260 biolink:AnatomicalEntity upper arm blood vessel A blood vessel that is part of a forelimb stylopod [Automatically generated definition]. EMAPA:37294|MA:0000603 hp.json forelimb stylopod blood vessel http://purl.obolibrary.org/obo/UBERON_0004260 HP:0031941 biolink:PhenotypicFeature Abnormal portal venous system morphology Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins. hp.json http://purl.obolibrary.org/obo/HP_0031941 UBERON:0004261 biolink:AnatomicalEntity lower leg blood vessel A blood vessel that is part of a lower leg [Automatically generated definition]. MA:0000675|EMAPA:37300 hp.json hindlimb zeugopod blood vessel http://purl.obolibrary.org/obo/UBERON_0004261 HP:0031942 biolink:PhenotypicFeature Congenital absence of portal vein Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts. hp.json Missing portal vein|CAPV http://purl.obolibrary.org/obo/HP_0031942 HP:0006976 biolink:PhenotypicFeature Necrotizing encephalopathy A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue. UMLS:C1396481 hp.json http://purl.obolibrary.org/obo/HP_0006976 HP:0004315 biolink:PhenotypicFeature Decreased circulating IgG level An abnormally decreased level of immunoglobulin G (IgG) in blood. SNOMEDCT_US:190981001|SNOMEDCT_US:123785006|UMLS:C0162539|MSH:D017099 hp.json Decreased immunoglobulin G|IgG deficiency|Decreased IgG level in blood|Decreased gamma-globin expression|Reduced IgG levels|Decreased serum IgG|Decreased IgG level http://purl.obolibrary.org/obo/HP_0004315 HP:0031943 biolink:PhenotypicFeature Akathisia A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria. hp.json http://purl.obolibrary.org/obo/HP_0031943 HP:0006970 biolink:PhenotypicFeature Periventricular leukomalacia Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia. SNOMEDCT_US:230769007|UMLS:C0023529|MSH:D007969 hp.json PVL http://purl.obolibrary.org/obo/HP_0006970 PR:P22304 biolink:Protein iduronate 2-sulfatase (human) An iduronate 2-sulfatase that is encoded in the genome of human. UniProtKB:P22304 hp.json IDS|alpha-L-iduronate sulfate sulfatase (human)|SIDS|idursulfase (human)|hIDS http://purl.obolibrary.org/obo/PR_P22304 HP:0031948 biolink:PhenotypicFeature Snowball lesion of corpus callosum Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome. hp.json http://purl.obolibrary.org/obo/HP_0031948 UBERON:0004268 biolink:AnatomicalEntity lower arm connective tissue A portion of connective tissue that is part of a lower arm [Automatically generated definition]. MA:0000599|EMAPA:37319 hp.json http://purl.obolibrary.org/obo/UBERON_0004268 UBERON:0004269 biolink:AnatomicalEntity upper arm connective tissue A portion of connective tissue that is part of a forelimb stylopod [Automatically generated definition]. MA:0000605|EMAPA:37317 hp.json http://purl.obolibrary.org/obo/UBERON_0004269 HP:0031949 biolink:PhenotypicFeature Recurrent bacterial upper respiratory tract infections An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). hp.json Recurrent bacterial URI http://purl.obolibrary.org/obo/HP_0031949 UBERON:0004266 biolink:AnatomicalEntity upper leg connective tissue A portion of connective tissue that is part of a hindlimb stylopod [Automatically generated definition]. MA:0000683|EMAPA:37325 hp.json http://purl.obolibrary.org/obo/UBERON_0004266 UBERON:0004267 biolink:AnatomicalEntity back connective tissue A portion of connective tissue that is part of a back [Automatically generated definition]. EMAPA:37256|MA:0000495 hp.json mesenchyne of back http://purl.obolibrary.org/obo/UBERON_0004267 CHEBI:33405 biolink:ChemicalSubstance hydracid A hydracid is a compound which contains hydrogen that is not bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). hp.json hydracid|hydracids http://purl.obolibrary.org/obo/CHEBI_33405 3_STAR HP:0031950 biolink:PhenotypicFeature Usual interstitial pneumonia Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. hp.json http://purl.obolibrary.org/obo/HP_0031950 CHEBI:33408 biolink:ChemicalSubstance pnictogen oxoacid hp.json pnictogen oxoacids http://purl.obolibrary.org/obo/CHEBI_33408 3_STAR HP:0004325 biolink:PhenotypicFeature Decreased body weight Abnormally low body weight. UMLS:C1262477|UMLS:C1844806|MSH:D013851|SNOMEDCT_US:89362005|SNOMEDCT_US:262285001|MSH:D015431|SNOMEDCT_US:248342006|UMLS:C0041667|SNOMEDCT_US:161832001 hp.json Low body weight|Weight less than 3rd percentile|Low weight|Decreased weight|Decreased body weight http://purl.obolibrary.org/obo/HP_0004325 HP:0006988 biolink:PhenotypicFeature Alobar holoprosencephaly A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. SNOMEDCT_US:253137003|UMLS:C0431363|MSH:D016142 hp.json http://purl.obolibrary.org/obo/HP_0006988 UBERON:0004253 biolink:AnatomicalEntity skin muscle Any muscle organ that is part of a skin of body [Automatically generated definition]. EMAPA:35776|MA:0002710|MA:0003139|EMAPA:18187 hp.json skin muscle organ|integumental system muscle|muscle of integumental system|muscle organ of skin http://purl.obolibrary.org/obo/UBERON_0004253 HP:0031955 biolink:PhenotypicFeature Antalgic gait To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. hp.json Limp http://purl.obolibrary.org/obo/HP_0031955 UBERON:0004254 biolink:AnatomicalEntity forelimb zeugopod muscle Any muscle organ that is part of a forelimb zeugopod (lower arm)[Automatically generated definition]. MA:0000600|FMA:37371|EMAPA:32622 hp.json lower arm muscle|wing zeugopod muscle|muscle of forearm|forearm muscle http://purl.obolibrary.org/obo/UBERON_0004254 HP:0006989 biolink:PhenotypicFeature Dysplastic corpus callosum Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. UMLS:C0431369 hp.json Dysgenesis of corpus callosum|Dysplasia of corpus callosum http://purl.obolibrary.org/obo/HP_0006989 HP:0004324 biolink:PhenotypicFeature Increased body weight Abnormally increased body weight. SNOMEDCT_US:8943002|MSH:D015430|SNOMEDCT_US:161831008|SNOMEDCT_US:262286000|UMLS:C0043094 hp.json Increased body weight|Weight gain http://purl.obolibrary.org/obo/HP_0004324 HP:0031956 biolink:PhenotypicFeature Elevated circulating aspartate aminotransferase concentration An abnormally high concentration in the circulation of aspartate aminotransferase (AST). hp.json Aspartate aminotransferase increased|Elevated serum AST|Elevated serum glutamic oxaloacetic transaminase|Elevated serum aspartate aminotransferase http://purl.obolibrary.org/obo/HP_0031956 UBERON:0004251 biolink:AnatomicalEntity hindlimb zeugopod bone A bone that is part of a lower leg [Automatically generated definition]. MA:0000676|EMAPA:35519 hp.json bone of middle limb segment of hindlimb|zeugopod of hind limb bone|bone of zeugopod of leg|zeugopod of inferior member bone organ|bone organ of inferior member zeugopod|bone of hind limb zeugopod|intermediate segment of free lower limb bone organ|intermediate segment of free lower limb bone|bone of inferior member zeugopod|bone organ of middle limb segment of hindlimb|zeugopod of inferior member bone|bone organ of zeugopod of leg|bone of intermediate segment of free lower limb|middle limb segment of hind limb bone organ|middle limb segment of hindlimb bone organ|zeugopod of leg bone organ|bone of zeugopod of inferior member|bone organ of zeugopod of hindlimb|zeugopod of leg bone|middle limb segment of inferior member bone organ|bone of zeugopod of hind limb|middle limb segment of hind limb bone|bone organ of intermediate segment of free lower limb|bone of lower leg|middle limb segment of hindlimb bone|bone organ of zeugopod of inferior member|bone of zeugopod of hindlimb|middle limb segment of inferior member bone|bone organ of lower leg|bone organ of zeugopod of hind limb|bone organ of middle limb segment of inferior member|zeugopod of hindlimb bone organ|bone of middle limb segment of inferior member|bone organ of middle limb segment of hind limb|bone of middle limb segment of hind limb|zeugopod of hindlimb bone|lower extremity middle limb segment bone organ|bone of inferior member middle limb segment|lower extremity middle limb segment bone|inferior member zeugopod bone organ|bone of hind limb middle limb segment|bone organ of inferior member middle limb segment|bone organ of hind limb middle limb segment|bone of zeugopod of lower extremity|bone of hindlimb zeugopod|inferior member zeugopod bone|hind limb zeugopod bone organ|bone organ of hindlimb zeugopod|hind limb zeugopod bone|bone organ of zeugopod of lower extremity|hindlimb middle limb segment bone organ|hindlimb middle limb segment bone|bone organ of middle limb segment of lower extremity|bone organ of lower extremity zeugopod|hindlimb zeugopod bone organ|zeugopod of lower extremity bone organ|zeugopod of lower extremity bone|bone of middle limb segment of lower extremity|bone of lower extremity zeugopod|hindlimb zeugopod bone|hind limb middle limb segment bone organ|inferior member middle limb segment bone organ|hind limb middle limb segment bone|bone of lower extremity middle limb segment|inferior member middle limb segment bone|middle limb segment of lower extremity bone organ|bone organ of lower extremity middle limb segment|lower extremity zeugopod bone organ|lower leg bone|bone organ of hindlimb middle limb segment|lower extremity zeugopod bone|middle limb segment of lower extremity bone|bone of hindlimb middle limb segment|zeugopod of hind limb bone organ|bone organ of hind limb zeugopod http://purl.obolibrary.org/obo/UBERON_0004251 HP:0004323 biolink:PhenotypicFeature Abnormality of body weight An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. UMLS:C4025357|UMLS:C0878621 hp.json Abnormality of habitus|Abnormality of body weight http://purl.obolibrary.org/obo/HP_0004323 HP:0031957 biolink:PhenotypicFeature Spastic hemiparetic gait Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster. hp.json Wernicke-Mann gait http://purl.obolibrary.org/obo/HP_0031957 UBERON:0004252 biolink:AnatomicalEntity hindlimb stylopod muscle Any muscle organ that is part of a hindlimb stylopod (upper leg)[Automatically generated definition]. FMA:22470|MA:0000684|EMAPA:19144|BTO:0001367 hp.json upper leg muscle|muscle of thigh|thigh muscle http://purl.obolibrary.org/obo/UBERON_0004252 pheno_slim HP:0031958 biolink:PhenotypicFeature Spastic paraparetic gait A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait. hp.json http://purl.obolibrary.org/obo/HP_0031958 HP:0004322 biolink:PhenotypicFeature Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). SNOMEDCT_US:237836003|UMLS:C0349588 hp.json Height less than 3rd percentile|Short stature|Stature below 3rd percentile|Small stature|Decreased body height http://purl.obolibrary.org/obo/HP_0004322 HP:0031951 biolink:PhenotypicFeature Nocturnal seizures Seizures that occur while the affected individual is sleeping. hp.json Sleep seizures http://purl.obolibrary.org/obo/HP_0031951 HP:0004329 biolink:PhenotypicFeature Abnormal posterior eye segment morphology UMLS:C4025354 hp.json Abnormality of the posterior segment of the globe|Abnormal morphology of the posterior segment of the globe|Abnormality of the posterior segment of the eye|Abnormality of the posterior segment of the eyeball http://purl.obolibrary.org/obo/HP_0004329 HP:0006984 biolink:PhenotypicFeature obsolete Distal sensory loss of all modalities hp.json http://purl.obolibrary.org/obo/HP_0006984 UBERON:0004250 biolink:AnatomicalEntity upper arm bone A bone that is part of a forelimb stylopod [Automatically generated definition]. MA:0000604|EMAPA:35892 hp.json humerus http://purl.obolibrary.org/obo/UBERON_0004250 GO:0140572 biolink:BiologicalProcess vacuole fission The division of a vacuole within a cell to form two or more separate vacuoles. hp.json http://purl.obolibrary.org/obo/GO_0140572 HP:0031952 biolink:PhenotypicFeature Neurogenic claudication Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine. hp.json http://purl.obolibrary.org/obo/HP_0031952 HP:0004328 biolink:PhenotypicFeature Abnormal anterior eye segment morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). UMLS:C4025355 hp.json Abnormality of the anterior segment of the eye|Abnormality of the anterior segment of the eyeball|Abnormality of the anterior segment of the globe|Abnormal anterior segment morphology http://purl.obolibrary.org/obo/HP_0004328 HP:0004327 biolink:PhenotypicFeature Abnormal vitreous humor morphology Any structural anomaly of the vitreous body. UMLS:C4025356 hp.json Abnormal vitreous humour morphology http://purl.obolibrary.org/obo/HP_0004327 hposlim_core HP:0006986 biolink:PhenotypicFeature Upper limb spasticity UMLS:C1273957|SNOMEDCT_US:394680009 hp.json Uncontrollable movement in upper arms http://purl.obolibrary.org/obo/HP_0006986 HP:0031953 biolink:PhenotypicFeature Cautious gait Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen. hp.json Senile gait http://purl.obolibrary.org/obo/HP_0031953 CHEBI:33402 biolink:ChemicalSubstance sulfur oxoacid hp.json sulfur oxoacids|oxoacids of sulfur http://purl.obolibrary.org/obo/CHEBI_33402 3_STAR HP:0004326 biolink:PhenotypicFeature Cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. SNOMEDCT_US:238108007|SNOMEDCT_US:285384003|UMLS:C0006625|MSH:D002100 hp.json Wasting syndrome http://purl.obolibrary.org/obo/HP_0004326 HP:0031954 biolink:PhenotypicFeature Dystonic gait Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients. hp.json http://purl.obolibrary.org/obo/HP_0031954 HP:0006980 biolink:PhenotypicFeature Progressive leukoencephalopathy Leukoencephalopathy that gets more severe with time. UMLS:C1855010 hp.json Leukoencephalopathy, progressive http://purl.obolibrary.org/obo/HP_0006980 UBERON:0004259 biolink:AnatomicalEntity lower arm blood vessel A blood vessel that is part of a lower arm [Automatically generated definition]. EMAPA:37295|MA:0000597 hp.json forelimb zeugopod blood vessel http://purl.obolibrary.org/obo/UBERON_0004259 HP:0006983 biolink:PhenotypicFeature obsolete Slowly progressive spastic quadriparesis hp.json http://purl.obolibrary.org/obo/HP_0006983 HP:0004321 biolink:PhenotypicFeature Bladder fistula The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin. MSH:D001747|SNOMEDCT_US:68666001|UMLS:C0005690 hp.json http://purl.obolibrary.org/obo/HP_0004321 UBERON:0004257 biolink:AnatomicalEntity upper leg blood vessel A blood vessel that is part of a hindlimb stylopod [Automatically generated definition]. EMAPA:37299|MA:0000681 hp.json thigh blood vessel|blood vessel of stylopod of hind limb|blood vessel of thigh|blood vessel of stylopod of hindlimb|hind limb stylopod blood vessel|hindlimb stylopod blood vessel|blood vessel of upper leg http://purl.obolibrary.org/obo/UBERON_0004257 HP:0031959 biolink:PhenotypicFeature Leg dystonia A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs. hp.json http://purl.obolibrary.org/obo/HP_0031959 UBERON:0004258 biolink:AnatomicalEntity back blood vessel A blood vessel that is part of a back [Automatically generated definition]. MA:0000493|EMAPA:37243 hp.json blood vessel of back http://purl.obolibrary.org/obo/UBERON_0004258 HP:0004320 biolink:PhenotypicFeature Vaginal fistula The presence of a fistula of the vagina. UMLS:C0042253|SNOMEDCT_US:45135002|MSH:D014624 hp.json http://purl.obolibrary.org/obo/HP_0004320 UBERON:0004255 biolink:AnatomicalEntity forelimb stylopod muscle Any muscle organ that is part of a forelimb stylopod (upper arm)[Automatically generated definition]. MA:0000606|EMAPA:19107|FMA:37370 hp.json muscle of arm|muscle of upper arm|upper arm muscle|skeletal muscle of upper arm|wing stylopod muscle http://purl.obolibrary.org/obo/UBERON_0004255 pheno_slim UBERON:0004256 biolink:AnatomicalEntity hindlimb zeugopod muscle Any muscle organ that is part of a hindlimb zeugopod (lower leg) [Automatically generated definition]. EMAPA:19318|MA:0000678|FMA:22471 hp.json calf muscle|lower leg muscle|muscle of leg http://purl.obolibrary.org/obo/UBERON_0004256 pheno_slim HP:0031960 biolink:PhenotypicFeature Arm dystonia A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. hp.json http://purl.obolibrary.org/obo/HP_0031960 HP:0031961 biolink:PhenotypicFeature Abnormal serum anion gap Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration. hp.json http://purl.obolibrary.org/obo/HP_0031961 HP:0006959 biolink:PhenotypicFeature Proximal spinal muscular atrophy Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. UMLS:C4024957 hp.json http://purl.obolibrary.org/obo/HP_0006959 UBERON:0004242 biolink:AnatomicalEntity bronchus smooth muscle A portion of smooth muscle tissue that is part of a bronchus [Automatically generated definition]. NCIT:C49213|BTO:0004401|UMLS:C1707055|MA:0001840|EMAPA:35195 hp.json bronchial trunk smooth muscle|involuntary muscle of bronchi|non-striated muscle of bronchi|involuntary muscle of bronchial trunk|bronchial smooth muscle|non-striated muscle of bronchial trunk|bronchus involuntary muscle|bronchial trunk involuntary muscle|non-striated muscle of bronchus|bronchi involuntary muscle|involuntary muscle of bronchus|bronchus smooth muscle tissue|bronchial trunk smooth muscle tissue|smooth muscle of bronchus|smooth muscle tissue of bronchus|bronchi smooth muscle tissue|bronchi non-striated muscle|bronchial trunk non-striated muscle|smooth muscle tissue of bronchi|smooth muscle of bronchi|bronchus non-striated muscle|smooth muscle tissue of bronchial trunk|bronchi smooth muscle|smooth muscle of bronchial trunk http://purl.obolibrary.org/obo/UBERON_0004242 human_reference_atlas HP:0006955 biolink:PhenotypicFeature Olivopontocerebellar hypoplasia Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. UMLS:C1859341 hp.json http://purl.obolibrary.org/obo/HP_0006955 HP:0006956 biolink:PhenotypicFeature Lateral ventricle dilatation UMLS:C1856409 hp.json Lateral ventricle dilatation|Dilation of lateral ventricles|Enlarged lateral ventricles|Dilatation of lateral cerebral ventricles http://purl.obolibrary.org/obo/HP_0006956 UBERON:0004243 biolink:AnatomicalEntity prostate gland smooth muscle A portion of smooth muscle tissue that is part of a prostate gland [Automatically generated definition]. EMAPA:35713|FMA:74245|BTO:0003159|MA:0001741 hp.json prostate smooth muscle|non-striated muscle of prostate gland|involuntary muscle of prostate gland|non-striated muscle of prostate|involuntary muscle of prostate|prostate involuntary muscle|smooth muscle of prostate gland|substantia muscularis prostatae|smooth muscle tissue of prostate gland|smooth muscle of prostate|prostate gland involuntary muscle|smooth muscle tissue of prostate|prostate smooth muscle tissue|muscular tissue of prostate|prostate gland non-striated muscle|prostate gland smooth muscle tissue|prostate non-striated muscle http://purl.obolibrary.org/obo/UBERON_0004243 HP:0031967 biolink:PhenotypicFeature Cloudy urine The appearance of the urine having visible material in suspension, i.e., appearing cloudy. hp.json Turbid urine http://purl.obolibrary.org/obo/HP_0031967 UBERON:0004240 biolink:AnatomicalEntity gall bladder smooth muscle A portion of smooth muscle tissue that is part of a gallbladder [Automatically generated definition]. UMLS:C1708179|MA:0001635|NCIT:C49483|EMAPA:35373 hp.json gall bladder non-striated muscle|gall bladder smooth muscle tissue|biliary smooth muscle|gallbladder non-striated muscle|smooth muscle tissue of gallbladder|non-striated muscle of gall bladder|smooth muscle of gallbladder|involuntary muscle of gall bladder|gallbladder smooth muscle|gallbladder involuntary muscle|involuntary muscle of gallbladder|smooth muscle of gall bladder|non-striated muscle of gallbladder|smooth muscle tissue of gall bladder|gall bladder involuntary muscle|gallbladder smooth muscle tissue http://purl.obolibrary.org/obo/UBERON_0004240 HP:0006957 biolink:PhenotypicFeature obsolete Loss of ability to walk hp.json http://purl.obolibrary.org/obo/HP_0006957 HP:0006958 biolink:PhenotypicFeature Abnormal auditory evoked potentials An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. SNOMEDCT_US:102971006|UMLS:C0522216 hp.json Abnormal brainstem auditory-evoked potentials http://purl.obolibrary.org/obo/HP_0006958 HP:0031969 biolink:PhenotypicFeature Reduced blood urea nitrogen An abnormally low concentration of urea nitrogen in the blood. hp.json Reduced BUN http://purl.obolibrary.org/obo/HP_0031969 HP:0006951 biolink:PhenotypicFeature Retrocerebellar cyst UMLS:C1845370 hp.json http://purl.obolibrary.org/obo/HP_0006951 HP:0031962 biolink:PhenotypicFeature Elevated serum anion gap An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). hp.json http://purl.obolibrary.org/obo/HP_0031962 HP:0031963 biolink:PhenotypicFeature Decreased serum anion gap An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). hp.json http://purl.obolibrary.org/obo/HP_0031963 HP:0031964 biolink:PhenotypicFeature Elevated circulating alanine aminotransferase concentration An abnormally high concentration in the circulation of alanine aminotransferase (ALT). hp.json Elevated serum ALT|Alanine aminotransferase increased|Elevated serum alanine aminotransferase|Elevated serum glutamic-pyruvic transaminase http://purl.obolibrary.org/obo/HP_0031964 HP:0031965 biolink:PhenotypicFeature Increased RBC distribution width Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. hp.json Increased red blood cell distribution width http://purl.obolibrary.org/obo/HP_0031965 UBERON:0004248 biolink:AnatomicalEntity pedal digit bone A bone that is part of a hindlimb digit. Typically phalanges but may include sesamoids. MA:0000646|EMAPA:37309 hp.json foot digit bone organ|toe bone|digital bone of pes|foot digit bone|bone of digit of foot|foot digit bone|digital bone of foot|digitus pedis bone organ|digit of foot bone|digitus pedis bone|hind limb digit bone|toe bone organ http://purl.obolibrary.org/obo/UBERON_0004248 UBERON:0004249 biolink:AnatomicalEntity manual digit bone A bone that is part of a forelimb digit. Typically phalanges but may include sesamoids. EMAPA:37305|MA:0000622 hp.json finger bone|hand digit bone|hand digit bone|digital bone of hand|digital bone of manus|fore limb digit bone http://purl.obolibrary.org/obo/UBERON_0004249 UBERON:0004246 biolink:AnatomicalEntity outflow tract smooth muscle A portion of smooth muscle tissue that is part of a outflow tract [Automatically generated definition]. MA:0000492|EMAPA:37708 hp.json outflow tract non-striated muscle|outflow tract involuntary muscle|smooth muscle tissue of outflow tract|smooth muscle of outflow tract|outflow tract smooth muscle tissue|involuntary muscle of outflow tract|non-striated muscle of outflow tract http://purl.obolibrary.org/obo/UBERON_0004246 UBERON:0004247 biolink:AnatomicalEntity bone of dorsum A bone that is part of the dorsal region of an animal. MA:0000494|EMAPA:37248 hp.json dorsal region bone|dorsal region bone|back bone|bone of back http://purl.obolibrary.org/obo/UBERON_0004247 grouping_class UBERON:0004245 biolink:AnatomicalEntity oviduct smooth muscle A portion of smooth muscle tissue that is part of a fallopian tube [Automatically generated definition]. MA:0001721|EMAPA:29046 hp.json involuntary muscle of fallopian tube|fallopian tube smooth muscle tissue|smooth muscle of fallopian tube|smooth muscle tissue of fallopian tube|fallopian tube non-striated muscle|fallopian tube smooth muscle|fallopian tube involuntary muscle|non-striated muscle of fallopian tube http://purl.obolibrary.org/obo/UBERON_0004245 HP:0031970 biolink:PhenotypicFeature Abnormal blood urea nitrogen concentration Any deviation from the normal concentration of urea nitrogen in the blood. hp.json Abnormal BUN concentration http://purl.obolibrary.org/obo/HP_0031970 HP:0004309 biolink:PhenotypicFeature Ventricular preexcitation An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. SNOMEDCT_US:195060002|UMLS:C0559106 hp.json Ventricular pre-excitation|Preexcitation|Pre-excitation syndrome http://purl.obolibrary.org/obo/HP_0004309 HP:0031971 biolink:PhenotypicFeature Subaortic ventricular septal bulge A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy. hp.json http://purl.obolibrary.org/obo/HP_0031971 HP:0031972 biolink:PhenotypicFeature Presyncope Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. hp.json http://purl.obolibrary.org/obo/HP_0031972 HP:0004308 biolink:PhenotypicFeature Ventricular arrhythmia UMLS:C0085612|SNOMEDCT_US:44103008 hp.json Ventricular arrhythmias http://purl.obolibrary.org/obo/HP_0004308 UBERON:0004231 biolink:AnatomicalEntity anal region smooth muscle A portion of smooth muscle tissue that is part of an anal region [Automatically generated definition]. EMAPA:37394|MA:0001532 hp.json anal triangle non-striated muscle|anal part of perineum involuntary muscle|anal region smooth muscle tissue|anal part of perineum non-striated muscle|anal triangle involuntary muscle|smooth muscle tissue of anal triangle|smooth muscle of anal triangle|smooth muscle tissue of anal part of perineum|anal triangle smooth muscle|smooth muscle of anal part of perineum|anal region non-striated muscle|anal part of perineum smooth muscle tissue|anal triangle smooth muscle tissue|anal part of perineum smooth muscle|smooth muscle tissue of anal region|involuntary muscle of anal triangle|involuntary muscle of anal part of perineum|smooth muscle of anal region|non-striated muscle of anal triangle|non-striated muscle of anal part of perineum|involuntary muscle of anal region|non-striated muscle of anal region|anal region involuntary muscle http://purl.obolibrary.org/obo/UBERON_0004231 HP:0004303 biolink:PhenotypicFeature Abnormal muscle fiber morphology Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. UMLS:C4021663 hp.json Abnormality of muscle fibres|Abnormal muscle fibre morphology|Abnormal skeletal muscle fiber morphology|Abnormal skeletal muscle fibre morphology|Abnormality of muscle fibers http://purl.obolibrary.org/obo/HP_0004303 HP:0031977 biolink:PhenotypicFeature Increased vertical cup-to-disc ratio - 0.9 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). hp.json http://purl.obolibrary.org/obo/HP_0031977 UBERON:0004232 biolink:AnatomicalEntity lymphatic vessel smooth muscle A portion of smooth muscle tissue that is part of a lymphatic vessel [Automatically generated definition]. FMA:262026|EMAPA:36313|NCIT:C49260|UMLS:C1708791|MA:0000751 hp.json smooth muscle tissue of lymph vessel|lymphatic vessel non-striated muscle|lymph vessel involuntary muscle|lymphatic vessel involuntary muscle|lymph vessel non-striated muscle|lymph vessel smooth muscle tissue|non-striated muscle of lymphatic vessel|lymph vessel smooth muscle|lymphatic vessel smooth muscle tissue|involuntary muscle of lymphatic vessel|non-striated muscle of lymph vessel|smooth muscle of lymphatic vessel|involuntary muscle of lymph vessel|smooth muscle tissue of lymphatic vessel|smooth muscle of lymph vessel http://purl.obolibrary.org/obo/UBERON_0004232 pheno_slim HP:0031978 biolink:PhenotypicFeature Increased vertical cup-to-disc ratio - 1.0 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). hp.json http://purl.obolibrary.org/obo/HP_0031978 HP:0004302 biolink:PhenotypicFeature Functional motor deficit UMLS:C4025360 hp.json Functional motor problems http://purl.obolibrary.org/obo/HP_0004302 HP:0031979 biolink:PhenotypicFeature Abnormal urine carbohydrate level Any deviation from the normal concentration of a carbohydrate in the urine. hp.json http://purl.obolibrary.org/obo/HP_0031979 UBERON:0004230 biolink:AnatomicalEntity urinary bladder neck smooth muscle A portion of smooth muscle tissue that is part of a neck of urinary bladder [Automatically generated definition]. EMAPA:30123|FMA:67990|MA:0001699 hp.json trigonal muscle of urinary bladder|bladder neck smooth muscle tissue|smooth muscle tissue of neck of urinary bladder|smooth muscle of bladder neck|smooth muscle tissue of bladder neck|neck of bladder smooth muscle tissue|smooth muscle of neck of urinary bladder|non-striated muscle of vesical neck|non-striated muscle of urinary bladder neck|involuntary muscle of vesical neck|neck of urinary bladder smooth muscle|involuntary muscle of urinary bladder neck|neck of urinary bladder involuntary muscle|neck of bladder non-striated muscle|involuntary muscle of neck of urinary bladder|bladder neck non-striated muscle|non-striated muscle of neck of urinary bladder|smooth muscle of vesical neck|urinary bladder neck involuntary muscle|smooth muscle tissue of neck of bladder|smooth muscle of urinary bladder neck|smooth muscle tissue of vesical neck|smooth muscle tissue of urinary bladder neck|vesical neck involuntary muscle|smooth muscle of neck of bladder|neck of urinary bladder smooth muscle tissue|neck of bladder smooth muscle|bladder neck smooth muscle|urinary bladder neck muscle|vesical neck non-striated muscle|involuntary muscle of neck of bladder|urinary bladder neck smooth muscle tissue|trigonal muscle|vesical neck smooth muscle tissue|urinary bladder neck non-striated muscle|non-striated muscle of neck of bladder|non-striated muscle of bladder neck|bladder neck involuntary muscle|involuntary muscle of bladder neck|neck of bladder involuntary muscle|neck of urinary bladder non-striated muscle|vesical neck smooth muscle http://purl.obolibrary.org/obo/UBERON_0004230 HP:0031973 biolink:PhenotypicFeature Increased vertical cup-to-disc ratio An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. hp.json http://purl.obolibrary.org/obo/HP_0031973 HP:0006962 biolink:PhenotypicFeature Gait instability, worse in the dark UMLS:C1837016 hp.json Unstable walking, worse in the dark http://purl.obolibrary.org/obo/HP_0006962 HP:0004307 biolink:PhenotypicFeature Abnormal anatomic location of the heart Developmental defect characterized by an anomalous anatomic location of the heart. UMLS:C4025359 hp.json http://purl.obolibrary.org/obo/HP_0004307 HP:0004306 biolink:PhenotypicFeature Abnormal endocardium morphology An abnormality of the endocardium. UMLS:C4021662 hp.json Abnormality of the endocardium|Abnormality of the endomycoardium http://purl.obolibrary.org/obo/HP_0004306 HP:0031974 biolink:PhenotypicFeature Increased vertical cup-to-disc ratio - 0.6 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). hp.json http://purl.obolibrary.org/obo/HP_0031974 HP:0004305 biolink:PhenotypicFeature Involuntary movements Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. UMLS:C0235086|SNOMEDCT_US:102542000 hp.json Involuntary muscle contractions|Involuntary movements http://purl.obolibrary.org/obo/HP_0004305 HP:0031975 biolink:PhenotypicFeature Increased vertical cup-to-disc ratio - 0.7 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). hp.json http://purl.obolibrary.org/obo/HP_0031975 HP:0006964 biolink:PhenotypicFeature Cerebral cortical neurodegeneration UMLS:C1859863 hp.json http://purl.obolibrary.org/obo/HP_0006964 HP:0031976 biolink:PhenotypicFeature Increased vertical cup-to-disc ratio - 0.8 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). hp.json http://purl.obolibrary.org/obo/HP_0031976 HP:0006965 biolink:PhenotypicFeature Acute necrotizing encephalopathy UMLS:C1855020 hp.json http://purl.obolibrary.org/obo/HP_0006965 UBERON:0004239 biolink:AnatomicalEntity small intestine smooth muscle A portion of smooth muscle tissue that is part of a small intestine [Automatically generated definition]. MA:0001559|EMAPA:35783 hp.json smooth muscle tissue of small bowel|smooth muscle of small bowel|small bowel smooth muscle|small bowel smooth muscle tissue|involuntary muscle of small bowel|non-striated muscle of small bowel|small intestine non-striated muscle|small intestine involuntary muscle|smooth muscle tissue of small intestine|smooth muscle of small intestine|small intestine smooth muscle tissue|involuntary muscle of small intestine|non-striated muscle of small intestine|small bowel non-striated muscle|small bowel involuntary muscle http://purl.obolibrary.org/obo/UBERON_0004239 pheno_slim UBERON:0004237 biolink:AnatomicalEntity blood vessel smooth muscle Smooth muscle found within, and composing the majority of the wall of blood vessels. Wikipedia:Vascular_smooth_muscle|ZFA:0005321|CALOHA:TS-1107|TAO:0005321|BTO:0001431|MA:0000710|EMAPA:35177|MESH:D009131|NCIT:C33853|UMLS:C1519956 hp.json non-striated muscle of blood vessel|involuntary muscle of blood vessel|blood vessel involuntary muscle|smooth muscle of blood vessel|smooth muscle tissue of blood vessel|blood vessel smooth muscle tissue|blood vessel non-striated muscle|vascular smooth muscle tissue|vascular smooth muscle http://purl.obolibrary.org/obo/UBERON_0004237 pheno_slim HP:0006960 biolink:PhenotypicFeature Choroid plexus calcification The presence of calcium deposition in the choroid plexus. UMLS:C1863184 hp.json Calcified choroid plexus http://purl.obolibrary.org/obo/HP_0006960 UBERON:0004238 biolink:AnatomicalEntity spleen smooth muscle A portion of smooth muscle tissue that is part of a spleen [Automatically generated definition]. MA:0000757|EMAPA:35807 hp.json smooth muscle of spleen|smooth muscle tissue of spleen|spleen involuntary muscle|spleen non-striated muscle|spleen smooth muscle tissue|non-striated muscle of spleen|involuntary muscle of spleen http://purl.obolibrary.org/obo/UBERON_0004238 HP:0006961 biolink:PhenotypicFeature Jerky head movements UMLS:C1855568 hp.json Jerking head movements|Head jerking http://purl.obolibrary.org/obo/HP_0006961 UBERON:0004235 biolink:AnatomicalEntity mammary gland smooth muscle A portion of smooth muscle tissue that is part of a mammary gland [Automatically generated definition]. MA:0000795|EMAPA:37669 hp.json smooth muscle tissue of mammary gland http://purl.obolibrary.org/obo/UBERON_0004235 UBERON:0004236 biolink:AnatomicalEntity arteriole smooth muscle A portion of smooth muscle tissue that is part of an arteriole [Automatically generated definition]. FMA:312251|MA:0000706|EMAPA:36287 hp.json http://purl.obolibrary.org/obo/UBERON_0004236 UBERON:0004233 biolink:AnatomicalEntity lower respiratory tract smooth muscle A portion of smooth muscle tissue that is part of a lower respiratory tract [Automatically generated definition]. EMAPA:35520|MA:0002410 hp.json lower respiratory tract involuntary muscle|lower respiratory tract non-striated muscle|smooth muscle tissue of lower respiratory tract|smooth muscle of lower respiratory tract|lower respiratory tract smooth muscle tissue|involuntary muscle of lower respiratory tract|non-striated muscle of lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0004233 UBERON:0004234 biolink:AnatomicalEntity iris smooth muscle A portion of smooth muscle tissue that is part of a iris [Automatically generated definition]. BTO:0000655|EMAPA:35448|MA:0001270|FMA:312338 hp.json iris non-striated muscle|iridial smooth muscle|iridial smooth muscle|iris involuntary muscle|non-striated muscle of iris|involuntary muscle of iris|iris smooth muscle tissue|smooth muscle of iris|smooth muscle tissue of iris http://purl.obolibrary.org/obo/UBERON_0004234 NBO:0000417 biolink:NamedThing physiologic nystagmus "A form of involuntary eye movement that is part of the vestibulo-ocular reflex (VOR). It is characterized by alternating smooth pursuit in one direction and saccadic movement in the other direction." [wikipedia:Physiologic_nystagmus] hp.json http://purl.obolibrary.org/obo/NBO_0000417 NBO:0000416 biolink:NamedThing vestibulo-ocular reflex "A reflex eye movement that stabilizes images on the retina during head movement by producing an eye movement in the direction opposite to head movement, thus preserving the image on the center of the visual field." [wikipedia:Vestibulo-ocular_reflex] hp.json VOR|oculovestibular reflex|vestibuloocular reflex http://purl.obolibrary.org/obo/NBO_0000416 NBO:0000411 biolink:NamedThing cranial nerve related reflex "A reflex that involves cranial nerves." [wikipedia:Reflex] hp.json http://purl.obolibrary.org/obo/NBO_0000411 GO:0140546 biolink:BiologicalProcess defense response to symbiont Reactions triggered in response to the presence of a symbiont that act to protect the cell or organism from damage caused by that symbiont. hp.json http://purl.obolibrary.org/obo/GO_0140546 NBO:0000419 biolink:NamedThing sleeping behavior phenotype "Observable characteristic of behavior related to the readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000419 HP:0031900 biolink:PhenotypicFeature obsolete Abnormal serum tryptase concentration hp.json http://purl.obolibrary.org/obo/HP_0031900 HP:0004358 biolink:PhenotypicFeature Abnormality of superoxide metabolism UMLS:C4025340 hp.json http://purl.obolibrary.org/obo/HP_0004358 HP:0004357 biolink:PhenotypicFeature Abnormal circulating leucine concentration Any deviation from the normal circulation of leucine in the blood circulation. UMLS:C4025341 hp.json http://purl.obolibrary.org/obo/HP_0004357 HP:0031901 biolink:PhenotypicFeature Elevated total serum tryptase An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0031901 HP:0004356 biolink:PhenotypicFeature Abnormality of lysosomal metabolism UMLS:C4025342 hp.json http://purl.obolibrary.org/obo/HP_0004356 HP:0031902 biolink:PhenotypicFeature obsolete Decreased serum mast cell beta-tryptase concentration hp.json http://purl.obolibrary.org/obo/HP_0031902 HP:0031903 biolink:PhenotypicFeature Abnormal circulating selenium concentration Any deviation from the normal circulating concentration of selenium. hp.json Abnormal serum selenium concentration http://purl.obolibrary.org/obo/HP_0031903 HP:0004355 biolink:PhenotypicFeature obsolete Abnormality of proteoglycan metabolism hp.json http://purl.obolibrary.org/obo/HP_0004355 HP:0004359 biolink:PhenotypicFeature Abnormal circulating fatty-acid concentration A deviation from the normal concentration of a fatty acid in the blood circulation. UMLS:C4021656|UMLS:C4020830 hp.json Abnormality of fatty acid metabolism|Fatty acids abnormal http://purl.obolibrary.org/obo/HP_0004359 HP:0031908 biolink:PhenotypicFeature Micrographia Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task. hp.json http://purl.obolibrary.org/obo/HP_0031908 HP:0031909 biolink:PhenotypicFeature Unicornuate uterus A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. hp.json http://purl.obolibrary.org/obo/HP_0031909 NBO:0000420 biolink:NamedThing bruxism "A NREM parasomnia characterised by Involuntarily grinding of teeth while sleeping." [MBP:GVG] hp.json teeth grinding| http://purl.obolibrary.org/obo/NBO_0000420 HP:0031904 biolink:PhenotypicFeature Abnormal total hemolytic complement activity Any deviation from the normal total hemolytic complement activity in the circulation. hp.json Abnormal CH50 http://purl.obolibrary.org/obo/HP_0031904 HP:0004354 biolink:PhenotypicFeature Abnormal circulating carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. UMLS:C4025344 hp.json http://purl.obolibrary.org/obo/HP_0004354 HP:0004353 biolink:PhenotypicFeature Abnormal circulating pyrimidine concentration Any deviation from the normal concentration of a pyrimidine in the blood circulation. UMLS:C4025345 hp.json http://purl.obolibrary.org/obo/HP_0004353 HP:0031905 biolink:PhenotypicFeature Increased total hemolytic complement activity An abnormally elevated total hemolytic complement activity in the circulation. hp.json http://purl.obolibrary.org/obo/HP_0031905 HP:0031906 biolink:PhenotypicFeature Decreased total hemolytic complement activity An abnormally reduced total hemolytic complement activity in the circulation. hp.json http://purl.obolibrary.org/obo/HP_0031906 HP:0004352 biolink:PhenotypicFeature Abnormal circulating purine concentration Any deviation from the normal concentration of a purine in the blood circulation. UMLS:C4025346 hp.json Abnormal circulating purine level http://purl.obolibrary.org/obo/HP_0004352 HP:0031907 biolink:PhenotypicFeature Anti-mitochondrial M2 antibody positivity The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum. hp.json Anti-pyruvate dehydrogenase antibody positivity|AMA-M2 positive http://purl.obolibrary.org/obo/HP_0031907 UBERON:0004290 biolink:AnatomicalEntity dermomyotome The bilaminar epithelium formed from the myotome and dermatome. EMAPA:31109|EHDAA2:0003259|FMA:295654|AAO:0010572|AEO:0000214|VHOG:0000676|NCIT:C34140|UMLS:C1511786|ZFA:0001513|TAO:0001513 hp.json dermamyotome|dermomyotomes http://purl.obolibrary.org/obo/UBERON_0004290 HP:0004369 biolink:PhenotypicFeature Decreased circulating purine concentration Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. UMLS:C4025331 hp.json Decreased purine levels|Decreased purine level http://purl.obolibrary.org/obo/HP_0004369 HP:0031911 biolink:PhenotypicFeature Abnormal fifth cranial nerve physiology hp.json http://purl.obolibrary.org/obo/HP_0031911 UBERON:0004297 biolink:AnatomicalEntity respiratory system blood vessel smooth muscle A blood vessel smooth muscle that is part of a respiratory system [Automatically generated definition]. MA:0001806|EMAPA:37573 hp.json smooth muscle tissue of blood vessel of respiratory system http://purl.obolibrary.org/obo/UBERON_0004297 HP:0031912 biolink:PhenotypicFeature Trigeminal anesthesia Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth. hp.json Trigeminal anaesthesia http://purl.obolibrary.org/obo/HP_0031912 HP:0004368 biolink:PhenotypicFeature Increased circulating purine concentration Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. UMLS:C4025332 hp.json Increased purine level|Increased purine levels http://purl.obolibrary.org/obo/HP_0004368 UBERON:0004295 biolink:AnatomicalEntity sympathetic nerve trunk A nerve trunk that is part of a sympathetic nervous system [Automatically generated definition]. EHDAA2:0001970|EMAPA:35845|MA:0000227 hp.json nerve trunk of sympathetic nervous system|nerve trunk of sympathetic part of autonomic division of nervous system|sympathetic nervous system nerve trunk http://purl.obolibrary.org/obo/UBERON_0004295 pheno_slim HP:0031913 biolink:PhenotypicFeature Rhombencephalosynapsis Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. hp.json http://purl.obolibrary.org/obo/HP_0031913 HP:0004367 biolink:PhenotypicFeature obsolete Abnormality of glycoprotein metabolism hp.json http://purl.obolibrary.org/obo/HP_0004367 UBERON:0004296 biolink:AnatomicalEntity respiratory system lymphatic vessel smooth muscle A lymphatic vessel smooth muscle that is part of a respiratory system [Automatically generated definition]. MA:0001826|EMAPA:37582 hp.json smooth muscle of lymph vessel of respiratory system http://purl.obolibrary.org/obo/UBERON_0004296 human_reference_atlas HP:0031914 biolink:PhenotypicFeature Fluctuating Varying irregularly over time in severity, amount, or amplitude. hp.json http://purl.obolibrary.org/obo/HP_0031914 HP:0004366 biolink:PhenotypicFeature Abnormality of glycolysis An abnormality of glycolysis. UMLS:C4025334 hp.json http://purl.obolibrary.org/obo/HP_0004366 UBERON:0004293 biolink:AnatomicalEntity parasympathetic nerve A nerve that is part of a parasympathetic nervous system [Automatically generated definition]. MA:0000224|EHDAA2:0001401|EMAPA:17271|SCTID:276146002|VHOG:0000641 hp.json nerve of parasympathetic nervous system http://purl.obolibrary.org/obo/UBERON_0004293 UBERON:0004294 biolink:AnatomicalEntity glomerular capillary endothelium An endothelium that is part of a glomerular capillary. NCIT:C32522|UMLS:C0227647|MA:0001658 hp.json renal glomerulus capillary endothelium http://purl.obolibrary.org/obo/UBERON_0004294 pheno_slim|human_reference_atlas UBERON:0004291 biolink:AnatomicalEntity heart rudiment A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. TAO:0000115|ZFA:0000115 hp.json rudimentary heart|heart cone http://purl.obolibrary.org/obo/UBERON_0004291 UBERON:0004292 biolink:AnatomicalEntity cardiac skeleton Dense connective tissue that separates the atria from the ventricles and provides physical support for the heart. FMA:9496|Wikipedia:Cardiac_skeleton|EMAPA:36645 hp.json trigona fibrosa|trigonum fibrosum dextrum cordis|anulus fibrosus dexter cordis|heart fibrous skeleton|trigona fibrosa|trigonum fibrosum dextrum cordis|anulus fibrosus sinister cordis|skeleton of heart|fibrous skeleton of heart|anulus fibrosus sinister cordis|cardiac fibrous skeleton|trigonum fibrosum sinistrum cordis|trigonum fibrosum sinistrum cordis|anulus fibrosus dexter cordis http://purl.obolibrary.org/obo/UBERON_0004292 HP:0031910 biolink:PhenotypicFeature Abnormal cranial nerve physiology A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. hp.json http://purl.obolibrary.org/obo/HP_0031910 HP:0004361 biolink:PhenotypicFeature Abnormality of circulating leptin level An abnormal concentration of leptin in the blood. UMLS:C4025339 hp.json http://purl.obolibrary.org/obo/HP_0004361 HP:0031919 biolink:PhenotypicFeature Juvenile type ovarian granulosa cell tumor Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type. hp.json Ovarian juvenile granulosa cell tumour|Juvenile type ovarian granulosa cell tumour|Ovarian juvenile granulosa cell tumor http://purl.obolibrary.org/obo/HP_0031919 HP:0004360 biolink:PhenotypicFeature Abnormality of acid-base homeostasis An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. MSH:D000137|UMLS:C0001118 hp.json Acid base imbalance http://purl.obolibrary.org/obo/HP_0004360 HP:0004365 biolink:PhenotypicFeature Abnormal circulating tryptophan concentration Any deviation from the normal concentration of tryptophan in the blood circulation. UMLS:C4025335 hp.json Abnormality of tryptophan metabolism http://purl.obolibrary.org/obo/HP_0004365 HP:0031915 biolink:PhenotypicFeature Stable This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time. hp.json http://purl.obolibrary.org/obo/HP_0031915 HP:0004364 biolink:PhenotypicFeature Abnormal circulating nitrogen compound concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. UMLS:C4025336 hp.json http://purl.obolibrary.org/obo/HP_0004364 HP:0031917 biolink:PhenotypicFeature Digital ulcer An open sore on the surface of the skin of a finger or toe. hp.json http://purl.obolibrary.org/obo/HP_0031917 HP:0004363 biolink:PhenotypicFeature Abnormal circulating calcium concentration Any deviation from the normal concentration of calcium in the blood circulation. hp.json Abnormal circulating Ca2+ concentration|Abnormal blood calcium levels|Abnormal circulating Ca concentration|Abnormal blood calcium concentration http://purl.obolibrary.org/obo/HP_0004363 HP:0031918 biolink:PhenotypicFeature Ovarian sex cord-stromal tumor A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. hp.json Ovarian sex cord-stromal tumour http://purl.obolibrary.org/obo/HP_0031918 HP:0004362 biolink:PhenotypicFeature Abnormality of enteric ganglion morphology An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow. UMLS:C4025338 hp.json Abnormality of the enteric ganglia http://purl.obolibrary.org/obo/HP_0004362 HP:0031922 biolink:PhenotypicFeature Renal artery duplication The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body. hp.json Double renal artery|Accessory renal artery http://purl.obolibrary.org/obo/HP_0031922 HP:0004336 biolink:PhenotypicFeature Myelin outfoldings The presence of excessive redundant myelin in the peripheral nerve sheath. UMLS:C1843168 hp.json Irregular myelin foldings|Excessive focal folding of myelin sheaths http://purl.obolibrary.org/obo/HP_0004336 HP:0006999 biolink:PhenotypicFeature Basal ganglia gliosis Focal proliferation of glial cells in the basal ganglia. UMLS:C1864114|UMLS:C2750915 hp.json Gliosis in the basal ganglia http://purl.obolibrary.org/obo/HP_0006999 HP:0031923 biolink:PhenotypicFeature Hematocolpos Accumulation of blood in the vagina usually due to vaginal obstruction. hp.json Haematocolpos http://purl.obolibrary.org/obo/HP_0031923 HP:0004334 biolink:PhenotypicFeature Dermal atrophy Partial or complete wasting (atrophy) of the skin. MEDDRA:10040799|SNOMEDCT_US:400190005|SNOMEDCT_US:399979006|UMLS:C0151514 hp.json Skin atrophy|Atrophic skin|Skin degeneration http://purl.obolibrary.org/obo/HP_0004334 hposlim_core HP:0031924 biolink:PhenotypicFeature Rope sign The presence of linear erythematous palpable cords, often on the lateral trunk. hp.json http://purl.obolibrary.org/obo/HP_0031924 HP:0031925 biolink:PhenotypicFeature Rosette A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub. hp.json http://purl.obolibrary.org/obo/HP_0031925 HP:0004333 biolink:PhenotypicFeature Bone-marrow foam cells The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. UMLS:C1856560 hp.json Large vacuolated foam cells on bone marrow biopsy|Large vacuolated foam cells ('NP cells') on bone marrow biopsy|Bone marrow foam cells http://purl.obolibrary.org/obo/HP_0004333 HP:0004339 biolink:PhenotypicFeature Abnormal circulating sulfur amino acid concentration Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. UMLS:C4021660 hp.json Abnormality of sulfur-containing amino acids|Abnormal circulating sulphur amino acid concentration http://purl.obolibrary.org/obo/HP_0004339 HP:0031920 biolink:PhenotypicFeature Malignant ovarian granulosa cell tumor An aggressive granulosa cell tumor that arises from the ovary. hp.json Malignant ovarian granulosa cell tumour http://purl.obolibrary.org/obo/HP_0031920 HP:0004338 biolink:PhenotypicFeature Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. UMLS:C4025352 hp.json Abnormality of aromatic amino acid family metabolism http://purl.obolibrary.org/obo/HP_0004338 HP:0004337 biolink:PhenotypicFeature Abnormality of amino acid metabolism Abnormality of an amino acid metabolic process. UMLS:C1328440 hp.json Amino acid levels abnormal http://purl.obolibrary.org/obo/HP_0004337 HP:0031921 biolink:PhenotypicFeature Gastrocnemius myalgia Pain of the gastrocnemius muscle. hp.json Calf muscle pain|Calf myalgia http://purl.obolibrary.org/obo/HP_0031921 HP:0006992 biolink:PhenotypicFeature Anterior basal encephalocele UMLS:C1850961 hp.json http://purl.obolibrary.org/obo/HP_0006992 HP:0006994 biolink:PhenotypicFeature Diffuse leukoencephalopathy UMLS:C1868514 hp.json http://purl.obolibrary.org/obo/HP_0006994 HP:0004332 biolink:PhenotypicFeature Abnormal lymphocyte morphology An abnormality of lymphocytes. UMLS:C0427546|SNOMEDCT_US:250284007 hp.json Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage http://purl.obolibrary.org/obo/HP_0004332 HP:0031926 biolink:PhenotypicFeature Homer Wright rosette A type of rosette in which the central lumen or hub is filled with fiber-like processes. hp.json http://purl.obolibrary.org/obo/HP_0031926 HP:0004331 biolink:PhenotypicFeature Decreased skull ossification A reduction in the magnitude or amount of ossification of the skull. UMLS:C4280533|SNOMEDCT_US:253980008|UMLS:C0432073 hp.json Ossification defect of skull|Poorly ossified skull bones|Decreased calcification of skull|Poorly mineralized skull|Poorly ossified skull|Decreased mineralization of skull|Deficient skull ossification|Decreased bone formation of skull|Hypoossification of skull http://purl.obolibrary.org/obo/HP_0004331 hposlim_core HP:0031927 biolink:PhenotypicFeature Flexner-Wintersteiner rosette The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil. hp.json http://purl.obolibrary.org/obo/HP_0031927 HP:0004330 biolink:PhenotypicFeature Increased skull ossification An increase in the magnitude or amount of ossification of the skull. UMLS:C0020496|UMLS:C4072851|UMLS:C4072850|SNOMEDCT_US:17401000119104 hp.json Increased calcification of skull|Hyperostosis of skull|Sclerosis of skull|Hyperossification of skull|Sclerosis of bones of skull|Increased Mineralization of skull http://purl.obolibrary.org/obo/HP_0004330 hposlim_core UBERON:0004288 biolink:AnatomicalEntity skeleton Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. MIAA:0000032|Wikipedia:Skeleton|EMAPA:17213|EHDAA2:0001843|MA:0003006|GAID:177|galen:Skeleton|MESH:D012863|OpenCyc:Mx4rvVi1rpwpEbGdrcN5Y29ycA|EHDAA:5047|XAO:0004053|MAT:0000032|FMA:23875|VSAO:0000026|AEO:0000168|SCTID:361378004 hp.json set of bones of body|set of all bones http://purl.obolibrary.org/obo/UBERON_0004288 uberon_slim|pheno_slim|efo_slim HP:0031928 biolink:PhenotypicFeature True ependymal rosette A type of rosette in which a halo of cells surrounds an empty lumen. hp.json http://purl.obolibrary.org/obo/HP_0031928 HP:0006990 biolink:PhenotypicFeature Myelin-dependent gliosis A type of gliosis that occurs in the vicinity of injured neurons. UMLS:C4024954 hp.json http://purl.obolibrary.org/obo/HP_0006990 HP:0031929 biolink:PhenotypicFeature Perivascular pseudorosette A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel. hp.json http://purl.obolibrary.org/obo/HP_0031929 NBO:0000403 biolink:NamedThing voluntary movement behavior "Behavior related to movements executed with intent." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000403 UBERON:0004275 biolink:AnatomicalEntity third ventricle choroid plexus epithelium A choroid plexus epithelium that is part of a third ventricle [Automatically generated definition]. EMAPA:37055|MA:0000880|FMA:242821 hp.json third ventricle epithelium of chorioid plexus of cerebral hemisphere|third ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|epithelium of choroid plexus of third ventricle|epithelial tissue of chorioid plexus of cerebral hemisphere of third ventricle|choroid plexus epithelium of third ventricle|epithelial tissue of choroid plexus of third ventricle|chorioid plexus of cerebral hemisphere epithelium of third ventricle|third ventricle choroid plexus epithelial tissue|third ventricle chorioid plexus of cerebral hemisphere epithelial tissue|chorioid plexus of cerebral hemisphere epithelial tissue of third ventricle|choroid plexus epithelial tissue of third ventricle|third ventricle chorioid plexus of cerebral hemisphere epithelium|third ventricle epithelium of choroid plexus|third ventricle epithelial tissue of choroid plexus|epithelium of chorioid plexus of cerebral hemisphere of third ventricle http://purl.obolibrary.org/obo/UBERON_0004275 HP:0004347 biolink:PhenotypicFeature Weakness of muscles of respiration Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. UMLS:C4025347 hp.json http://purl.obolibrary.org/obo/HP_0004347 HP:0031933 biolink:PhenotypicFeature Aorto-right ventricular tunnel The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle. hp.json Right ventricle to aorta tunnel http://purl.obolibrary.org/obo/HP_0031933 UBERON:0004276 biolink:AnatomicalEntity fourth ventricle choroid plexus epithelium A choroid plexus epithelium that is part of a fourth ventricle [Automatically generated definition]. NCIT:C49230|MA:0000984|UMLS:C1707392|FMA:242823 hp.json fourth ventricle epithelium of choroid plexus|chorioid plexus of cerebral hemisphere epithelium of fourth ventricle|epithelial tissue of choroid plexus of fourth ventricle|fourth ventricle epithelium of chorioid plexus of cerebral hemisphere|choroid plexus epithelium of fourth ventricle|epithelium of choroid plexus of fourth ventricle|epithelial tissue of chorioid plexus of cerebral hemisphere of fourth ventricle|epithelium of chorioid plexus of cerebral hemisphere of fourth ventricle|fourth ventricle choroid plexus epithelial tissue|fourth ventricle chorioid plexus of cerebral hemisphere epithelium|fourth ventricle chorioid plexus of cerebral hemisphere epithelial tissue|fourth ventricle epithelial tissue of choroid plexus|choroid plexus epithelial tissue of fourth ventricle|fourth ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|chorioid plexus of cerebral hemisphere epithelial tissue of fourth ventricle http://purl.obolibrary.org/obo/UBERON_0004276 HP:0031934 biolink:PhenotypicFeature Abnormal descending aorta morphology A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen. hp.json http://purl.obolibrary.org/obo/HP_0031934 HP:0004345 biolink:PhenotypicFeature Ganglioside accumulation Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). UMLS:C4025348 hp.json http://purl.obolibrary.org/obo/HP_0004345 UBERON:0004273 biolink:AnatomicalEntity cartilaginous joint suture A cranial suture that is part of a cartilaginous joint [Automatically generated definition]. MA:0001498|EMAPA:37463 hp.json articulatio cartilaginea cranial sutures|cranial suture of cartilaginous joint|articulatio cartilaginea cranial suture|cartilaginous joint cranial sutures set|cranium suture of cartilaginous joint|cartilaginous joint suture of cranium|cartilaginous joint cranial sutures|cranial sutures set of articulatio cartilaginea|suture of cranium of articulatio cartilaginea|cranial sutures of cartilaginous joint|cranial sutures of articulatio cartilaginea|suture of cranium of cartilaginous joint|cranial sutures set of cartilaginous joint|cartilaginous joint cranium suture|cranium suture of articulatio cartilaginea|cartilaginous joint cranial suture|articulatio cartilaginea cranial sutures set|cranial suture of articulatio cartilaginea|articulatio cartilaginea cranium suture|articulatio cartilaginea suture of cranium http://purl.obolibrary.org/obo/UBERON_0004273 HP:0031935 biolink:PhenotypicFeature Ascending aorta hypoplasia Significant luminal narrowing of a long segment of or the entire ascending aorta. hp.json http://purl.obolibrary.org/obo/HP_0031935 UBERON:0004274 biolink:AnatomicalEntity lateral ventricle choroid plexus epithelium A choroid plexus epithelium that is part of a lateral ventricle [Automatically generated definition]. EHDAA2:0004450|MA:0000962|UMLS:C1711323|FMA:242815|NCIT:C49248 hp.json lateral ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|lateral ventricle epithelium of chorioid plexus of cerebral hemisphere|epithelium of choroid plexus of lateral ventricle|epithelial tissue of chorioid plexus of cerebral hemisphere of lateral ventricle|choroid plexus epithelium of lateral ventricle|epithelial tissue of choroid plexus of lateral ventricle|chorioid plexus of cerebral hemisphere epithelium of lateral ventricle|lateral ventricle choroid plexus epithelial tissue|lateral ventricle chorioid plexus of cerebral hemisphere epithelial tissue|chorioid plexus of cerebral hemisphere epithelial tissue of lateral ventricle|choroid plexus epithelial tissue of lateral ventricle|lateral ventricle chorioid plexus of cerebral hemisphere epithelium|lateral ventricle epithelial tissue of choroid plexus|lateral ventricle epithelium of choroid plexus|epithelium of chorioid plexus of cerebral hemisphere of lateral ventricle http://purl.obolibrary.org/obo/UBERON_0004274 HP:0031936 biolink:PhenotypicFeature Delayed ability to walk A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. hp.json Delayed walking http://purl.obolibrary.org/obo/HP_0031936 HP:0004344 biolink:PhenotypicFeature Abnormality of cerebrosidase metabolism UMLS:C4025349 hp.json http://purl.obolibrary.org/obo/HP_0004344 UBERON:0004271 biolink:AnatomicalEntity outflow tract pericardium A pericardium that is part of a outflow tract [Automatically generated definition]. EMAPA:37707|MA:0000491 hp.json pericardium of outflow tract http://purl.obolibrary.org/obo/UBERON_0004271 HP:0031930 biolink:PhenotypicFeature Neurocytic rosette A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular. hp.json Pineocytomatous rosette http://purl.obolibrary.org/obo/HP_0031930 HP:0004349 biolink:PhenotypicFeature Reduced bone mineral density A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. UMLS:C2674432 hp.json Low solidness and mass of the bones|Decreased bone mineral density Z score|Decreased bone mineral density http://purl.obolibrary.org/obo/HP_0004349 HP:0031931 biolink:PhenotypicFeature Ocular flutter Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. hp.json http://purl.obolibrary.org/obo/HP_0031931 UBERON:0004270 biolink:AnatomicalEntity lower leg connective tissue A portion of connective tissue that is part of a lower leg [Automatically generated definition]. MA:0000677|EMAPA:37327 hp.json http://purl.obolibrary.org/obo/UBERON_0004270 HP:0004348 biolink:PhenotypicFeature Abnormality of bone mineral density This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. UMLS:C4021657 hp.json Abnormality of bone mineralisation and ossification http://purl.obolibrary.org/obo/HP_0004348 HP:0031932 biolink:PhenotypicFeature Aorto-left ventricular tunnel Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity. hp.json Left ventricle to aorta tunnel http://purl.obolibrary.org/obo/HP_0031932 HP:0031937 biolink:PhenotypicFeature Tachylalia Extreme rapidity of speech. hp.json Tachylogia http://purl.obolibrary.org/obo/HP_0031937 HP:0004343 biolink:PhenotypicFeature Abnormal glycosphingolipid metabolism An abnormality of glycosphingolipid metabolism. UMLS:C4025350 hp.json Abnormality of glycosphingolipid metabolism http://purl.obolibrary.org/obo/HP_0004343 HP:0031938 biolink:PhenotypicFeature Abnormal conus terminalis morphology Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae). hp.json Abnormal conus medullaris morphology http://purl.obolibrary.org/obo/HP_0031938 HP:0004342 biolink:PhenotypicFeature Abnormality of galactoside metabolism Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose. UMLS:C4025351 hp.json http://purl.obolibrary.org/obo/HP_0004342 UBERON:0004277 biolink:AnatomicalEntity eye muscle A muscle that is part of the eye region. EMAPA:35335|OpenCyc:Mx8Ngx4rwKSh9pwpEbGdrcN5Y29ycB4rvViTvpwpEbGdrcN5Y29ycB4rvYA8cJwpEbGdrcN5Y29ycA|AAO:0000156|MA:0000271 hp.json http://purl.obolibrary.org/obo/UBERON_0004277 pheno_slim HP:0031939 biolink:PhenotypicFeature Conus terminalis arteriovenous malformation hp.json http://purl.obolibrary.org/obo/HP_0031939 HP:0004341 biolink:PhenotypicFeature Abnormality of vitamin B12 metabolism UMLS:C4021658 hp.json Abnormality of the vitamin B12 metabolism http://purl.obolibrary.org/obo/HP_0004341 HP:0004340 biolink:PhenotypicFeature Abnormality of vitamin B metabolism UMLS:C4021659 hp.json Abnormality of B-vitamin metabolism http://purl.obolibrary.org/obo/HP_0004340 UBERON:0006839 biolink:AnatomicalEntity dorsal ramus of spinal nerve Branch of spinal nerve that innervates the epaxial muscles. FMA:5983 hp.json ramus posterior|ramus posterior nervi spinalis|posterior branch of spinal nerve|posterior primary ramus|posterior ramus of spinal nerve|dorsal ramus http://purl.obolibrary.org/obo/UBERON_0006839 UBERON:0006838 biolink:AnatomicalEntity ventral ramus of spinal nerve Branch of spinal nerve that innervates the hypaxial muscles. FMA:5982 hp.json ramus anterior|ramus anterior nervi spinalis|anterior branch of spinal nerve|anterior primary ramus of spinal nerve|ventral ramus|anterior ramus of spinal nerve|ventral ramus of spinal nerve http://purl.obolibrary.org/obo/UBERON_0006838 GO:0007631 biolink:BiologicalProcess feeding behavior Behavior associated with the intake of food. Wikipedia:List_of_feeding_behaviours hp.json feeding from xylem of other organism|feeding from plant phloem|behavioral response to food|injection of substance into other organism during feeding on blood of other organism|feeding on blood of other organism|feeding on or from other organism|feeding from vascular tissue of another organism|hematophagy|feeding behaviour|feeding from tissue of other organism|eating|feeding from phloem of other organism|feeding on plant sap|behavioural response to food|taking of blood meal http://purl.obolibrary.org/obo/GO_0007631 CHEBI:3424 biolink:ChemicalSubstance carnitinium A quaternary ammonium ion that is the the conjugate acid of carnitine. CAS:406-76-8|KEGG:C00487|CAS:461-06-3 hp.json Carnitine|3-hydroxy-4-(trimethylammonio)butanoic acid|3-carboxy-2-hydroxy-N,N,N-trimethylpropan-1-aminium http://purl.obolibrary.org/obo/CHEBI_3424 3_STAR UBERON:0006847 biolink:AnatomicalEntity cerebellar commissure A nervous system commissure that connects a left hemisphere of cerebellum and connects a right hemisphere of cerebellum. TAO:0000490|BAMS:cbc|DMBA:17754|MBA:744|ZFA:0000490|FMA:77522 hp.json commissure of cerebellum|commissura cerebelli http://purl.obolibrary.org/obo/UBERON_0006847 vertebrate_core UBERON:0006846 biolink:AnatomicalEntity surface groove A furrow or an incomplete tube. AEO:0000161|EHDAA2_RETIRED:0003161 hp.json groove http://purl.obolibrary.org/obo/UBERON_0006846 grouping_class UBERON:0006844 biolink:AnatomicalEntity cusp of tooth A raised area of the biting surface of a tooth. FMA:56481|UMLS:C0226994|TAO:0001973|ZFA:0005434|NCIT:C94568 hp.json tooth cone|tooth cusp|cusp http://purl.obolibrary.org/obo/UBERON_0006844 vertebrate_core UBERON:0006841 biolink:AnatomicalEntity central vein of liver Vein that is central to a lobule in the liver. FMA:17544|ZFA:0005168|TAO:0005168|NCIT:C32281 hp.json vena centralis (hepar)|central vein|terminal hepatic venule|terminal branch of hepatic vein http://purl.obolibrary.org/obo/UBERON_0006841 vertebrate_core|human_reference_atlas HP:0006904 biolink:PhenotypicFeature Late-onset spinocerebellar degeneration UMLS:C1856604 hp.json http://purl.obolibrary.org/obo/HP_0006904 HP:0006906 biolink:PhenotypicFeature Congenital intracerebral calcification The presence of calcium deposition within brain structures that is present already at the time of birth. UMLS:C4024966 hp.json http://purl.obolibrary.org/obo/HP_0006906 CHEBI:33484 biolink:ChemicalSubstance chalcogen oxoacid hp.json chalcogen oxoacids|chalcogen oxoacid http://purl.obolibrary.org/obo/CHEBI_33484 3_STAR CHEBI:33485 biolink:ChemicalSubstance chalcogen oxoanion hp.json chalcogen oxoanion|chalcogen oxoanions http://purl.obolibrary.org/obo/CHEBI_33485 3_STAR HP:0006901 biolink:PhenotypicFeature obsolete Impaired thermal sensitivity hp.json http://purl.obolibrary.org/obo/HP_0006901 HP:0006903 biolink:PhenotypicFeature Congenital peripheral neuropathy UMLS:C4024967 hp.json http://purl.obolibrary.org/obo/HP_0006903 UBERON:0006834 biolink:AnatomicalEntity uterus or analog A subdivision of a the reproductive tract in a female organism that is the site of embryo development. FBbt:00004924|WBbt:0006760|TADS:0000421 hp.json uterus http://purl.obolibrary.org/obo/UBERON_0006834 grouping_class UBERON:0006833 biolink:AnatomicalEntity lumen of trachea An anatomical space that surrounded_by a trachea. FMA:7469 hp.json lumen of cartilaginous trachea|tracheal lumen http://purl.obolibrary.org/obo/UBERON_0006833 CHEBI:57433 biolink:ChemicalSubstance sarcosine zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of sarcosine; major species at pH 7.3. MetaCyc:SARCOSINE|Gmelin:323777 hp.json (methylazaniumyl)acetate|sarcosine|2-(methylazaniumyl)acetate|(methylammonio)acetate http://purl.obolibrary.org/obo/CHEBI_57433 3_STAR CHEBI:33482 biolink:ChemicalSubstance sulfur oxoanion hp.json sulfur oxoanions|sulfur oxoanion|oxoanions of sulfur http://purl.obolibrary.org/obo/CHEBI_33482 3_STAR GO:0007618 biolink:BiologicalProcess mating The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes. hp.json http://purl.obolibrary.org/obo/GO_0007618 GO:0007617 biolink:BiologicalProcess mating behavior The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes. Wikipedia:Mating_behaviour hp.json mating behaviour http://purl.obolibrary.org/obo/GO_0007617 GO:0007613 biolink:BiologicalProcess memory The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). Wikipedia:Memory hp.json http://purl.obolibrary.org/obo/GO_0007613 UBERON:0006815 biolink:AnatomicalEntity areolar connective tissue Loose connective tissue located at the outer and inner layers of organs. Examples: submucosal connective tissue, tunica adventitia of artery, papillary dermis, superficial fascia of dorsum of hand. SCTID:68477002|AAO:0000027|FMA:63897 hp.json loose connective tissue|loose areolar connective tissue|areolar tissue http://purl.obolibrary.org/obo/UBERON_0006815 GO:0007611 biolink:BiologicalProcess learning or memory The acquisition and processing of information and/or the storage and retrieval of this information over time. hp.json http://purl.obolibrary.org/obo/GO_0007611 GO:0007610 biolink:BiologicalProcess behavior The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. Wikipedia:Behavior hp.json behaviour|behavioural response to stimulus|single-organism behavior|behavioral response to stimulus http://purl.obolibrary.org/obo/GO_0007610 gocheck_do_not_manually_annotate|goslim_flybase_ribbon|goslim_agr CHEBI:33459 biolink:ChemicalSubstance pnictogen oxoanion hp.json pnictogen oxoanion|pnictogen oxoanions http://purl.obolibrary.org/obo/CHEBI_33459 3_STAR CHEBI:33452 biolink:ChemicalSubstance benzylic group Arylmethyl groups and derivatives formed by substitution: ArCR2-. hp.json benzylic group|benzylic groups|benzylic groups|groupe benzylique http://purl.obolibrary.org/obo/CHEBI_33452 3_STAR CHEBI:33457 biolink:ChemicalSubstance phosphorus oxoacid A pnictogen oxoacid which contains phosphorus and oxygen, at least one hydrogen atom bound to oxygen, and forms an ion by the loss of one or more protons. hp.json Oxosaeure des Phosphors|oxoacids of phosphorus|phosphorus oxoacid|phosphorus oxoacids http://purl.obolibrary.org/obo/CHEBI_33457 3_STAR UBERON:0006822 biolink:AnatomicalEntity proximal epiphysis of ulna The head of ulna presents an articular surface, part of which, of an oval or semilunar form, is directed downward, and articulates with the upper surface of the triangular articular disk which separates it from the wrist-joint; the remaining portion, directed lateralward, is narrow, convex, and received into the ulnar notch of the radius. FMA:33751|galen:HeadOfUlna hp.json caput ulnae|head of ulna|caput ulnae|upper end of ulna|proximal end of ulna http://purl.obolibrary.org/obo/UBERON_0006822 pheno_slim GO:0007626 biolink:BiologicalProcess locomotory behavior The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. hp.json locomotory behavioral response to stimulus|locomotory behavioural response to stimulus|behavior via locomotion|locomotion in response to stimulus|locomotory behaviour http://purl.obolibrary.org/obo/GO_0007626 goslim_drosophila UBERON:0006805 biolink:AnatomicalEntity sternal end of clavicle Medial end of the clavicle, which usually lies on the ventral side of the epicoracoid cartilage, just posterior to the epicoracoid bridge. FMA:23297|AAO:0000812 hp.json extremitas medialis|medial end|extremitas sternalis claviculae|medial end of clavicle|extremitas sternalis (clavicula)|proximal epyphysis of clavicle http://purl.obolibrary.org/obo/UBERON_0006805 GO:0007623 biolink:BiologicalProcess circadian rhythm Any biological process in an organism that recurs with a regularity of approximately 24 hours. Wikipedia:Circadian_rhythm hp.json response to circadian rhythm|circadian process|circadian response http://purl.obolibrary.org/obo/GO_0007623 goslim_plant|goslim_drosophila GO:0007622 biolink:BiologicalProcess rhythmic behavior The specific behavior of an organism that recur with measured regularity. hp.json rhythmic behavioural response to stimulus|rhythmic behavioral response to stimulus|rhythmic behaviour http://purl.obolibrary.org/obo/GO_0007622 GO:0007620 biolink:BiologicalProcess copulation The act of sexual union between male and female, involving the transfer of sperm. hp.json http://purl.obolibrary.org/obo/GO_0007620 UBERON:0006813 biolink:AnatomicalEntity nasal skeleton Structural framework that provides support to the nasal sacs and ducts. AAO:0000320|FMA:60116 hp.json skeleton of nose http://purl.obolibrary.org/obo/UBERON_0006813 pheno_slim UBERON:0006812 biolink:AnatomicalEntity mental foramen The mental foramen is one of two holes ('foramina') located on the anterior surface of the mandible. It permits passage of the mental nerve and vessels. The mental foramen descends slightly in edentulous individuals. AAO:0000298|MESH:D000080383|FMA:53171 hp.json mental foramina|foramen mentalis|foramen mentale http://purl.obolibrary.org/obo/UBERON_0006812 UBERON:0006810 biolink:AnatomicalEntity olecranon The olecranon is a large, thick, curved bony eminence of the forearm that projects behind the elbow. It is situated at the upper (proximal) end of the ulna, one of the two bones in the forearm. When the hand faces forward the olecranon faces towards the back (posteriorly). It is bent forward at the summit so as to present a prominent lip which is received into the olecranon fossa of the humerus in extension of the forearm. Its base is contracted where it joins the body and the narrowest part of the upper end of the ulna. Its posterior surface, directed backward, is triangular, smooth, subcutaneous, and covered by a bursa. Its superior surface is of quadrilateral form, marked behind by a rough impression for the insertion of the Triceps brachii; and in front, near the margin, by a slight transverse groove for the attachment of part of the posterior ligament of the elbow-joint. Its anterior surface is smooth, concave, and forms the upper part of the semilunar notch. Its borders present continuations of the groove on the margin of the superior surface; they serve for the attachment of ligaments, viz. , the back part of the ulnar collateral ligament medially, and the posterior ligament laterally. From the medial border a part of the Flexor carpi ulnaris arises; while to the lateral border the anconeus muscle is attached. FMA:39795|UMLS:C0223710|AAO:0000843|NCIT:C33200 hp.json olecranon process of ulna|olecranon process|ulnar process http://purl.obolibrary.org/obo/UBERON_0006810 pheno_slim CHEBI:33461 biolink:ChemicalSubstance phosphorus oxoanion hp.json oxoanions of phosphorus|phosphorus oxoanion|phosphorus oxoanions http://purl.obolibrary.org/obo/CHEBI_33461 3_STAR NCBITaxon:1329799 biolink:OrganismalEntity Archelosauria PMID:22839753|PMID:25450099|GC_ID:1 hp.json Testudines + Archosauria group|Archosauria-Testudines http://purl.obolibrary.org/obo/NCBITaxon_1329799 UBERON:0004219 biolink:AnatomicalEntity urethra smooth muscle layer A portion of smooth muscle tissue that is part of a urethra [Automatically generated definition]. EMAPA:36630|MA:0001691|FMA:76909 hp.json smooth muscle tissue of urethra|muscular layer of urethra|smooth muscle of urethra|muscle layer of urethra|urethral smooth muscle|urethra smooth muscle tissue|tunica muscularis urethrae|muscular coat of urethra http://purl.obolibrary.org/obo/UBERON_0004219 RO:0002090 biolink:NamedThing immediately_precedes RO:0002090 hp.json http://purl.obolibrary.org/obo/RO_0002090 ro-eco HP:0006937 biolink:PhenotypicFeature Impaired distal tactile sensation A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. UMLS:C4021583 hp.json Decreased distal touch sense|Decreased touch sensation in extremities http://purl.obolibrary.org/obo/HP_0006937 HP:0006938 biolink:PhenotypicFeature Impaired vibration sensation at ankles A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. UMLS:C1854372 hp.json Decreased vibration sense at ankles|Decreased vibration sense in feet|Impaired vibration sensation at ankles http://purl.obolibrary.org/obo/HP_0006938 UBERON:0004220 biolink:AnatomicalEntity large intestine smooth muscle A portion of smooth muscle tissue that is part of a large intestine [Automatically generated definition]. EMAPA:35469|MA:0001547 hp.json smooth muscle tissue of large intestine|smooth muscle of large intestine|involuntary muscle of large intestine|non-striated muscle of large intestine|large intestine involuntary muscle|large intestine smooth muscle tissue|large intestine non-striated muscle http://purl.obolibrary.org/obo/UBERON_0004220 UBERON:0004221 biolink:AnatomicalEntity intestine smooth muscle A portion of smooth muscle tissue that is part of a intestine [Automatically generated definition]. BTO:0000643|MA:0001539|NCIT:C49243|EMAPA:35443|EMAPA:35441|UMLS:C1708547 hp.json involuntary muscle of intestine|non-striated muscle of intestine|intestine smooth muscle tissue|bowel non-striated muscle|smooth muscle tissue of bowel|bowel involuntary muscle|smooth muscle of bowel|bowel smooth muscle|involuntary muscle of bowel|bowel smooth muscle tissue|non-striated muscle of bowel|intestine non-striated muscle|intestinal muscularis|smooth muscle tissue of intestine|intestinal smooth muscle|intestine involuntary muscle|smooth muscle of intestine http://purl.obolibrary.org/obo/UBERON_0004221 pheno_slim HP:0006934 biolink:PhenotypicFeature Congenital nystagmus Nystagmus dating from or present at birth. SNOMEDCT_US:64635004|MSH:D020417|UMLS:C0700501 hp.json Nystagmus, congenital http://purl.obolibrary.org/obo/HP_0006934 CHEBI:33431 biolink:ChemicalSubstance elemental chlorine hp.json http://purl.obolibrary.org/obo/CHEBI_33431 3_STAR CHEBI:33432 biolink:ChemicalSubstance monoatomic chlorine hp.json atomic chlorine http://purl.obolibrary.org/obo/CHEBI_33432 3_STAR CHEBI:33433 biolink:ChemicalSubstance monoatomic halogen hp.json monoatomic halogens http://purl.obolibrary.org/obo/CHEBI_33433 3_STAR CHEBI:33434 biolink:ChemicalSubstance elemental halogen hp.json elemental halogens|elemental halogen http://purl.obolibrary.org/obo/CHEBI_33434 3_STAR HP:0006930 biolink:PhenotypicFeature Frontoparietal cortical dysplasia The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. UMLS:C4024959 hp.json http://purl.obolibrary.org/obo/HP_0006930 HP:0006931 biolink:PhenotypicFeature Pericallosal lipoma Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain. UMLS:C1333160 hp.json Lipoma of corpus callosum http://purl.obolibrary.org/obo/HP_0006931 HP:0006932 biolink:PhenotypicFeature Transient psychotic episodes UMLS:C4024958 hp.json http://purl.obolibrary.org/obo/HP_0006932 UBERON:0004228 biolink:AnatomicalEntity urinary bladder smooth muscle A portion of smooth muscle tissue that is part of a urinary bladder [Automatically generated definition]. MA:0001697|CALOHA:TS-1087|EMAPA:37791|BTO:0001849 hp.json bladder smooth muscle tissue|smooth muscle of urinary bladder|urinary bladder involuntary muscle|urinary bladder muscle|bladder non-striated muscle|involuntary muscle of urinary bladder|non-striated muscle of urinary bladder|smooth muscle tissue of bladder|smooth muscle of bladder|urinary bladder smooth muscle tissue|bladder smooth muscle|involuntary muscle of bladder|non-striated muscle of bladder|bladder involuntary muscle|urinary bladder non-striated muscle|smooth muscle layer of bladder|smooth muscle tissue of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004228 UBERON:0004226 biolink:AnatomicalEntity gastrointestinal system smooth muscle A portion of smooth muscle tissue that is part of a digestive system [Automatically generated definition]. EMAPA:35117|MA:0001523 hp.json smooth muscle tissue of gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0004226 UBERON:0004227 biolink:AnatomicalEntity kidney pelvis smooth muscle The smooth muscle tissue surrounding the urothelium of the kidney pelvis. MA:0002631|EMAPA:28120|FMA:262022 hp.json renal pelvis smooth muscle|smooth muscle tissue of renal pelvis|kidney pelvis smooth muscle|pelvic smooth muscle http://purl.obolibrary.org/obo/UBERON_0004227 pheno_slim UBERON:0004224 biolink:AnatomicalEntity muscular coat of vas deferens A muscular coat that is part of a vas deferens [Automatically generated definition]. MA:0001750|EMAPA:29270|FMA:19239 hp.json muscle layer of vas deferens|tunica muscularis ductus deferentis|tunica muscularis (ductus deferens)|muscularis of vas deferens|muscular coat of ductus deferens|muscular layer of ductus deferens|muscle layer of deferent duct|muscle layer of ductus deferens http://purl.obolibrary.org/obo/UBERON_0004224 UBERON:0004225 biolink:AnatomicalEntity respiratory system smooth muscle A portion of smooth muscle tissue that is part of a respiratory system [Automatically generated definition]. EMAPA:35734|BTO:0001660|MA:0001830 hp.json respiratory smooth muscle|airway smooth muscle cell|airway smooth muscle|smooth muscle of respiratory system http://purl.obolibrary.org/obo/UBERON_0004225 UBERON:0004222 biolink:AnatomicalEntity stomach smooth muscle A portion of smooth muscle tissue that is part of a stomach [Automatically generated definition]. EMAPA:35823|MA:0001627|BTO:0001818 hp.json smooth muscle of stomach|gastric muscle|stomach smooth muscle tissue|ventriculus involuntary muscle|involuntary muscle of stomach|non-striated muscle of stomach|ventriculus smooth muscle tissue|stomach muscle|ventriculus non-striated muscle|smooth muscle tissue of ventriculus|smooth muscle of ventriculus|stomach involuntary muscle|ventriculus smooth muscle|stomach non-striated muscle|involuntary muscle of ventriculus|gastric smooth muscle|smooth muscle tissue of stomach|non-striated muscle of ventriculus http://purl.obolibrary.org/obo/UBERON_0004222 UBERON:0004223 biolink:AnatomicalEntity vagina smooth muscle A portion of smooth muscle tissue that is part of a vagina [Automatically generated definition]. EMAPA:30997|BTO:0004999|MA:0001733 hp.json smooth muscle of vagina|smooth muscle tissue of vagina|vaginal smooth muscle|vagina smooth muscle|vagina non-striated muscle|vagina involuntary muscle|vagina smooth muscle tissue|non-striated muscle of vagina|involuntary muscle of vagina http://purl.obolibrary.org/obo/UBERON_0004223 RO:0002081 biolink:NamedThing before or simultaneous with hp.json http://purl.obolibrary.org/obo/RO_0002081 ro-eco GO:0007606 biolink:BiologicalProcess sensory perception of chemical stimulus The series of events required for an organism to receive a sensory chemical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. hp.json chemosensory perception http://purl.obolibrary.org/obo/GO_0007606 GO:0007605 biolink:BiologicalProcess sensory perception of sound The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. Wikipedia:Hearing_(sense) hp.json perception of sound|hearing http://purl.obolibrary.org/obo/GO_0007605 RO:0002082 biolink:NamedThing simultaneous with RO:0002082 hp.json http://purl.obolibrary.org/obo/RO_0002082 ro-eco UBERON:0004208 biolink:AnatomicalEntity nephrogenic mesenchyme Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron. hp.json mesenchyme of nephron|nephron mesenchyme http://purl.obolibrary.org/obo/UBERON_0004208 GO:0007601 biolink:BiologicalProcess visual perception The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. Wikipedia:Visual_perception hp.json vision|sense of sight|sensory visual perception http://purl.obolibrary.org/obo/GO_0007601 GO:0007600 biolink:BiologicalProcess sensory perception The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. Wikipedia:Perception hp.json http://purl.obolibrary.org/obo/GO_0007600 goslim_drosophila UBERON:0004209 biolink:AnatomicalEntity renal vesicle The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. hp.json stage I nephron http://purl.obolibrary.org/obo/UBERON_0004209 PATO:0002359 biolink:NamedThing broad A quality inhering in a bearer by virtue of the bearer's width being notably higher than its length. hp.json http://purl.obolibrary.org/obo/PATO_0002359 value_slim PATO:0002358 biolink:NamedThing ridged hp.json http://purl.obolibrary.org/obo/PATO_0002358 HP:0006949 biolink:PhenotypicFeature Episodic peripheral neuropathy UMLS:C1848695 hp.json http://purl.obolibrary.org/obo/HP_0006949 RO:0002086 biolink:NamedThing ends after hp.json http://purl.obolibrary.org/obo/RO_0002086 ro-eco RO:0002087 biolink:NamedThing immediately preceded by X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) RO:0002087 hp.json is directly preceded by|is immediately preceded by|directly preceded by|starts_at_end_of http://purl.obolibrary.org/obo/RO_0002087 UBERON:0006872 biolink:AnatomicalEntity handplate apical ectodermal ridge An apical ectodermal ridge that is part of a handplate. EHDAA2:0000729|EMAPA:17247 hp.json http://purl.obolibrary.org/obo/UBERON_0006872 HP:0006944 biolink:PhenotypicFeature Abolished vibration sense A complete loss of the ability to perceive vibration. UMLS:C1837520 hp.json Apallesthesia http://purl.obolibrary.org/obo/HP_0006944 UBERON:0006871 biolink:AnatomicalEntity embryonic footplate The distal elements of the developing limb of vertebrates that will give rise to the pes (foot). FMA:296800|NCIT:C34177|EHDAA:5143|EMAPA:17249|EHDAA:6096|UMLS:C1517291 hp.json foot disk|foot plate|distal part of hindlimb bud|footplate http://purl.obolibrary.org/obo/UBERON_0006871 pheno_slim HP:0006946 biolink:PhenotypicFeature Recurrent meningitis An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. UMLS:C0746495 hp.json http://purl.obolibrary.org/obo/HP_0006946 HP:0006943 biolink:PhenotypicFeature Diffuse spongiform leukoencephalopathy UMLS:C1858857 hp.json http://purl.obolibrary.org/obo/HP_0006943 UBERON:0004217 biolink:AnatomicalEntity upper arm nerve A nerve that is part of a forelimb stylopod [Automatically generated definition]. EMAPA:37337|MA:0000607 hp.json http://purl.obolibrary.org/obo/UBERON_0004217 UBERON:0004218 biolink:AnatomicalEntity lower leg nerve A nerve that is part of a lower leg [Automatically generated definition]. EMAPA:37345|MA:0000679 hp.json http://purl.obolibrary.org/obo/UBERON_0004218 UBERON:0004215 biolink:AnatomicalEntity back nerve A nerve that is part of a back [Automatically generated definition]. MA:0000497|EMAPA:37268 hp.json nerve of back http://purl.obolibrary.org/obo/UBERON_0004215 UBERON:0004216 biolink:AnatomicalEntity lower arm nerve A nerve that is part of a lower arm [Automatically generated definition]. EMAPA:37338|MA:0000601 hp.json http://purl.obolibrary.org/obo/UBERON_0004216 UBERON:0006877 biolink:AnatomicalEntity vasculature of liver A vasculature that is part of a liver. EHDAA2:0003454|EMAPA:35501|FMA:73748 hp.json liver vascular system|hepatic vascular element|hepatic vasculature|liver vascular element http://purl.obolibrary.org/obo/UBERON_0006877 pheno_slim UBERON:0006876 biolink:AnatomicalEntity vasculature of organ A vasculature that is part of a organ. FMA:74612 hp.json organ vasculature|set of blood vessels of organ http://purl.obolibrary.org/obo/UBERON_0006876 non_informative UBERON:0004214 biolink:AnatomicalEntity upper leg nerve A nerve that is part of a hindlimb stylopod [Automatically generated definition]. MA:0000685|EMAPA:37344 hp.json lower extremity stylopod nerve|hindlimb stylopod nerve|hind limb stylopod nerve|thigh RELATED http://purl.obolibrary.org/obo/UBERON_0004214 UBERON:0006875 biolink:AnatomicalEntity embryonic handplate The distal elements of the developing limb of vertebrates that will give rise to the manus (hand). NCIT:C34185|EHDAA:6242|FMA:296794|EHDAA:4194|EMAPA:17245|UMLS:C1512334 hp.json distal part of forelimb bud|handplate|hand plate http://purl.obolibrary.org/obo/UBERON_0006875 UBERON:0004211 biolink:AnatomicalEntity nephron epithelium The nephron epithelium is a tissue that covers the surface of a nephron. hp.json nephron epithelial tissue|epithelium of nephron|epithelial tissue of nephron http://purl.obolibrary.org/obo/UBERON_0004211 UBERON:0004212 biolink:AnatomicalEntity glomerular capillary The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus. EMAPA:28245|MA:0002587|NCIT:C32684|UMLS:C0226356|FMA:274259|ZFA:0005284|TAO:0005284 hp.json capillary vessel of renal glomerulus|renal glomerulus blood capillary|capillary of renal glomerulus|glomerular capillaries|glomerular capillary system|renal glomerulus capillary vessel|blood capillary of renal glomerulus|renal glomerulus capillary http://purl.obolibrary.org/obo/UBERON_0004212 pheno_slim|human_reference_atlas|vertebrate_core GO:0007608 biolink:BiologicalProcess sensory perception of smell The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process. Wikipedia:Olfaction hp.json olfaction|smell perception|scent perception|sense of smell http://purl.obolibrary.org/obo/GO_0007608 HP:0006919 biolink:PhenotypicFeature Abnormal aggressive, impulsive or violent behavior UMLS:C4024963 hp.json Aggressive/violent behavior|Abnormal aggressive, impulsive or violent behaviour|Aggressive/violent behaviour http://purl.obolibrary.org/obo/HP_0006919 HP:0006915 biolink:PhenotypicFeature Inability to walk by childhood/adolescence UMLS:C1859200 hp.json Inability to walk by childhood/adolescence http://purl.obolibrary.org/obo/HP_0006915 HP:0006916 biolink:PhenotypicFeature Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. UMLS:C1832339|UMLS:C4024964 hp.json Intraaxonal accumulation of curvilinear profiles http://purl.obolibrary.org/obo/HP_0006916 HP:0006918 biolink:PhenotypicFeature Diffuse cerebral sclerosis MSH:D002549|UMLS:C0007795|SNOMEDCT_US:49692006 hp.json http://purl.obolibrary.org/obo/HP_0006918 UBERON:0006861 biolink:AnatomicalEntity diaphysis proper Subdivision of long bone which forms the part of the bone between two metaphyses. Note that the diaphysis includes the metaphyses, but the diaphysis proper excludes these. FMA:32688|MA:0002803 hp.json body proper of long bone|shaft proper of long bone|long bone diaphysis http://purl.obolibrary.org/obo/UBERON_0006861 pheno_slim HP:0006913 biolink:PhenotypicFeature Frontal cortical atrophy Atrophy of the frontal cortex. UMLS:C4024965 hp.json Frontal cortex degeneration http://purl.obolibrary.org/obo/HP_0006913 UBERON:0006868 biolink:AnatomicalEntity seminal fluid secreting gland A gland that secretes a seminal fluid. WBbt:0006870|FBbt:00004958 hp.json http://purl.obolibrary.org/obo/UBERON_0006868 organ_slim|grouping_class UBERON:0006867 biolink:AnatomicalEntity anal part of perineum The anal triangle is the posterior part of the perineum. It contains the anal canal. [WP,unvetted]. FMA:20347 hp.json anal region|anal triangle|regio analis http://purl.obolibrary.org/obo/UBERON_0006867 UBERON:0006866 biolink:AnatomicalEntity terminal part of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. WBbt:0005773|FBbt:00005756 hp.json terminal section of digestive tract|rectal part of digestive tract|rectum http://purl.obolibrary.org/obo/UBERON_0006866 UBERON:0004205 biolink:AnatomicalEntity inner medullary collecting duct The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla. MA:0002598|EMAPA:28370|BTO:0004544 hp.json kidney inner medulla collecting duct|papillary collecting duct|inner renal medulla collecting duct http://purl.obolibrary.org/obo/UBERON_0004205 human_reference_atlas UBERON:0006865 biolink:AnatomicalEntity metaphysis of femur A metaphysis that is part of a femur. FMA:32875|MA:0003052|EMAPA:37540 hp.json femoral metaphysis http://purl.obolibrary.org/obo/UBERON_0006865 pheno_slim UBERON:0004203 biolink:AnatomicalEntity cortical collecting duct The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex. MA:0002600|EMAPA:28130|BTO:0002643 hp.json renal cortex collecting duct|kidney cortex collecting duct http://purl.obolibrary.org/obo/UBERON_0004203 human_reference_atlas UBERON:0006864 biolink:AnatomicalEntity distal metaphysis of femur A distal metaphysis that is part of a femur. FMA:32881 hp.json http://purl.obolibrary.org/obo/UBERON_0006864 pheno_slim UBERON:0004200 biolink:AnatomicalEntity kidney pyramid Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. MA:0001654|UMLS:C1514613|NCIT:C33436|BTO:0003926|UMLS:C0227629|NCIT:C12886|FMA:258870 hp.json Malpighian pyramid|pyramis renalis|renal pyramid|Malphigian pyramid|medullary pyramid|Malpighian pyramid|pyramid of Malpighi|pyramides renales|pyramid of Malphigi|pyramid|renal medullary region http://purl.obolibrary.org/obo/UBERON_0004200 pheno_slim|human_reference_atlas UBERON:0006863 biolink:AnatomicalEntity proximal metaphysis of femur A proximal metaphysis that is part of a femur. FMA:32878 hp.json http://purl.obolibrary.org/obo/UBERON_0006863 pheno_slim UBERON:0006862 biolink:AnatomicalEntity diaphysis of femur A diaphysis that is part of a femur[Automatically generated definition]. EMAPA:37538|FMA:32847|MA:0003055|NCIT:C96209 hp.json shaft of femur|femoral diaphysis|body of femur|femoral shaft|corpus femoris http://purl.obolibrary.org/obo/UBERON_0006862 pheno_slim UBERON:0006849 biolink:AnatomicalEntity scapula Endochondral bone that is dorsoventrally compressed and provides attachment site for muscles of the pectoral appendage. CALOHA:TS-0897|VSAO:0000157|UMLS:C0036277|VHOG:0001398|EMAPA:18722|galen:Scapula|FMA:13394|ZFA:0000583|BTO:0001218|OpenCyc:Mx4rvVji0JwpEbGdrcN5Y29ycA|GAID:186|MA:0001330|TAO:0000583|NCIT:C12783|AAO:0000751|MESH:D012540|EFO:0001400 hp.json scapulae|shoulder blade|scapulas|scapula bone http://purl.obolibrary.org/obo/UBERON_0006849 uberon_slim|pheno_slim|efo_slim CHEBI:33429 biolink:ChemicalSubstance monoatomic monoanion hp.json monoatomic monoanions http://purl.obolibrary.org/obo/CHEBI_33429 3_STAR HP:0006926 biolink:PhenotypicFeature Metachromatic leukodystrophy variant UMLS:C4024961 hp.json http://purl.obolibrary.org/obo/HP_0006926 HP:0006927 biolink:PhenotypicFeature Unilateral polymicrogyria Excessive number of small gyri (convolutions) on the surface of one side of the brain. UMLS:C4024960|SNOMEDCT_US:715905006 hp.json http://purl.obolibrary.org/obo/HP_0006927 HP:0006929 biolink:PhenotypicFeature Hypoglycemic encephalopathy Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. UMLS:C0149877|SNOMEDCT_US:64624009 hp.json http://purl.obolibrary.org/obo/HP_0006929 NCBITaxon:6072 biolink:OrganismalEntity Eumetazoa GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_6072 CHEBI:33424 biolink:ChemicalSubstance sulfur oxoacid derivative hp.json sulfur oxoacid derivatives|sulfur oxoacid derivative http://purl.obolibrary.org/obo/CHEBI_33424 3_STAR HP:0006921 biolink:PhenotypicFeature Axial muscle stiffness Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. UMLS:C4024962 hp.json http://purl.obolibrary.org/obo/HP_0006921 UBERON:0006858 biolink:AnatomicalEntity adrenal/interrenal gland This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO]. VHOG:0001141 hp.json adrenal gland/interrenal tissue|adrenal gland - interrenal gland|adrenal - interrenal gland|suprarenal gland - interrenal gland http://purl.obolibrary.org/obo/UBERON_0006858 homology_grouping|organ_slim UBERON:0006855 biolink:AnatomicalEntity muscular coat of ureter A muscular coat that is part of a ureter. FMA:15893|MA:0002654|EMAPA:28811 hp.json muscularis of ureter|tunica muscularis ureteris|muscular layer of ureter|ureteral smooth muscle layer|muscular coat of ureter|tunica muscularis (ureter) http://purl.obolibrary.org/obo/UBERON_0006855 HP:0100127 biolink:PhenotypicFeature Irregular epiphysis of the proximal phalanx of the 2nd toe UMLS:C4022294 hp.json Irregular end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100127 HP:0100128 biolink:PhenotypicFeature Ivory epiphysis of the proximal phalanx of the 2nd toe UMLS:C4022293 hp.json Increased bone density of end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100128 HP:0100125 biolink:PhenotypicFeature Enlarged epiphysis of the proximal phalanx of the 2nd toe UMLS:C4022296 hp.json Enlarged end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100125 RO:0002170 biolink:NamedThing connected to a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b RO:0002170 hp.json http://purl.obolibrary.org/obo/RO_0002170 HP:0100126 biolink:PhenotypicFeature Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe UMLS:C4022295 hp.json Fragmentation of the end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100126 HP:0100123 biolink:PhenotypicFeature Bracket epiphysis of the proximal phalanx of the 2nd toe UMLS:C4022298 hp.json Bracket shaped end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100123 HP:0100124 biolink:PhenotypicFeature Cone-shaped epiphysis of the proximal phalanx of the 2nd toe UMLS:C4022297 hp.json Cone-shaped end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100124 HP:0100121 biolink:PhenotypicFeature Triangular epiphysis of the middle phalanx of the 2nd toe UMLS:C4022300 hp.json Triangular end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100121 HP:0100122 biolink:PhenotypicFeature Absent epiphysis of the proximal phalanx of the 2nd toe UMLS:C4022299 hp.json Absent end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100122 RO:0002176 biolink:NamedThing connects Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. RO:0002176 hp.json http://purl.obolibrary.org/obo/RO_0002176 PATO:0002304 biolink:NamedThing increased process quality A quality of a process that has a value that is increased compared to normal or average. hp.json http://purl.obolibrary.org/obo/PATO_0002304 PATO:0002305 biolink:NamedThing increased object quality A quality of an object that has a value that is increased compared to normal or average. hp.json http://purl.obolibrary.org/obo/PATO_0002305 HP:0100120 biolink:PhenotypicFeature Stippling of the epiphysis of the middle phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe. UMLS:C4022301 hp.json Speckled calcifications in of the end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100120 RO:0002177 biolink:NamedThing attached to part of a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. RO:0002177 hp.json http://purl.obolibrary.org/obo/RO_0002177 PATO:0002302 biolink:NamedThing decreased process quality A quality of a process that has a value that is decreased compared to normal or average. hp.json http://purl.obolibrary.org/obo/PATO_0002302 RO:0002178 biolink:NamedThing supplies Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy. RO:0002178 hp.json http://purl.obolibrary.org/obo/RO_0002178 PATO:0002303 biolink:NamedThing decreased object quality A quality of an object that has a value that is decreased compared to normal or average. hp.json http://purl.obolibrary.org/obo/PATO_0002303 RO:0002179 biolink:NamedThing drains Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. RO:0002179 hp.json drains from|drains blood from http://purl.obolibrary.org/obo/RO_0002179 GO:0044782 biolink:BiologicalProcess cilium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. hp.json microtubule-based flagellum organization http://purl.obolibrary.org/obo/GO_0044782 goslim_drosophila|goslim_generic PATO:0002309 biolink:NamedThing fiber shaped A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a by virtue of the bearer's exhibiting a consistently sized and approximately round cross-section along its length, which is many times larger than its diameter. hp.json http://purl.obolibrary.org/obo/PATO_0002309 value_slim GO:0005172 biolink:MolecularActivity vascular endothelial growth factor receptor binding Binding to a vascular endothelial growth factor receptor. hp.json VEGFR binding|vascular endothelial growth factor receptor ligand|vascular endothelial growth factor|VEGF receptor binding http://purl.obolibrary.org/obo/GO_0005172 GO:0005173 biolink:MolecularActivity stem cell factor receptor binding Binding to a stem cell factor receptor (SCFR), a type III transmembrane kinase receptor. hp.json stem cell factor receptor ligand|SCF|stem cell factor|KIT binding|SCFR binding http://purl.obolibrary.org/obo/GO_0005173 PATO:0002300 biolink:NamedThing increased quality A quality that has a value that is increased compared to normal or average. hp.json http://purl.obolibrary.org/obo/PATO_0002300 GO:0042127 biolink:BiologicalProcess regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation. hp.json regulation of cell proliferation http://purl.obolibrary.org/obo/GO_0042127 PATO:0002301 biolink:NamedThing decreased quality A quality that has a value that is decreased compared to normal or average. hp.json http://purl.obolibrary.org/obo/PATO_0002301 GO:0042129 biolink:BiologicalProcess regulation of T cell proliferation Any process that modulates the frequency, rate or extent of T cell proliferation. hp.json regulation of T-cell proliferation|regulation of T lymphocyte proliferation|regulation of T-lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0042129 GO:0017157 biolink:BiologicalProcess regulation of exocytosis Any process that modulates the frequency, rate or extent of exocytosis. hp.json http://purl.obolibrary.org/obo/GO_0017157 GO:0030133 biolink:CellularComponent transport vesicle Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. NIF_Subcellular:sao885490876 hp.json Golgi-vacuole transport vesicle|secretory vesicle|Golgi to vacuole transport vesicle|constitutive secretory pathway transport vesicle http://purl.obolibrary.org/obo/GO_0030133 HP:0100129 biolink:PhenotypicFeature Pseudoepiphysis of the proximal phalanx of the 2nd toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe. UMLS:C4022292 hp.json http://purl.obolibrary.org/obo/HP_0100129 GO:0032790 biolink:BiologicalProcess ribosome disassembly The disaggregation of a ribosome into its constituent components; includes the dissociation of ribosomal subunits. hp.json ribosome recycling|ribosome dissociation factor http://purl.obolibrary.org/obo/GO_0032790 HP:0100138 biolink:PhenotypicFeature Enlarged epiphysis of the distal phalanx of the 3rd toe UMLS:C4022283 hp.json Enlarged end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100138 HP:0100139 biolink:PhenotypicFeature Fragmentation of the epiphysis of the distal phalanx of the 3rd toe UMLS:C4022282 hp.json Fragmentation of the end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100139 HP:0100136 biolink:PhenotypicFeature Bracket epiphysis of the distal phalanx of the 3rd toe UMLS:C4022285 hp.json Bracket shaped end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100136 HP:0100137 biolink:PhenotypicFeature Cone-shaped epiphysis of the distal phalanx of the 3rd toe UMLS:C4022284 hp.json Cone-shaped end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100137 RO:0002160 biolink:Protein only in taxon U only_in_taxon T: U is a feature found in only in organisms of species of taxon T. The feature cannot be found in an organism of any species outside of (not subsumed by) that taxon. Down-propagates in U hierarchy, up-propagates in T hierarchy (species taxonomy). Implies applicable_to_taxon. RO:0002160 hp.json never_outside_taxon|specific_to|specific_to_taxon http://purl.obolibrary.org/obo/RO_0002160 HP:0100134 biolink:PhenotypicFeature Abnormality of the axillary hair Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty. UMLS:C4022287 hp.json http://purl.obolibrary.org/obo/HP_0100134 HP:0100135 biolink:PhenotypicFeature Absent epiphysis of the distal phalanx of the 3rd toe UMLS:C4022286 hp.json Absent end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100135 HP:0100132 biolink:PhenotypicFeature Triangular epiphysis of the proximal phalanx of the 2nd toe UMLS:C4022289 hp.json Triangular end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100132 HP:0100133 biolink:PhenotypicFeature Abnormality of the pubic hair Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. UMLS:C4022288 hp.json Abnormality of the pubic hair http://purl.obolibrary.org/obo/HP_0100133 GO:0032787 biolink:BiologicalProcess monocarboxylic acid metabolic process The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-). hp.json monocarboxylate metabolic process|monocarboxylic acid metabolism http://purl.obolibrary.org/obo/GO_0032787 goslim_yeast HP:0100130 biolink:PhenotypicFeature Small epiphysis of the proximal phalanx of the 2nd toe UMLS:C4022291 hp.json Small end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100130 HP:0100131 biolink:PhenotypicFeature Stippling of the epiphysis of the proximal phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe. UMLS:C4022290 hp.json Speckled calcifications in the end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100131 GO:0042130 biolink:BiologicalProcess negative regulation of T cell proliferation Any process that stops, prevents or reduces the rate or extent of T cell proliferation. hp.json negative regulation of T-cell proliferation|negative regulation of T lymphocyte proliferation|negative regulation of T-lymphocyte proliferation|downregulation of T cell proliferation|down regulation of T cell proliferation|inhibition of T cell proliferation|down-regulation of T cell proliferation http://purl.obolibrary.org/obo/GO_0042130 RO:0002162 biolink:NamedThing in taxon x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. RO:0002162 hp.json http://purl.obolibrary.org/obo/RO_0002162 ro-eco PATO:0002317 biolink:NamedThing parallelogram A convex quadrilateral is a parallelogram if and only if any one of the following statements are true: 1. Each diagonal divides the quadrilateral into two congruent triangles with the same orientation. 2. The opposite sides are congruent in pairs. 3. The diagonals bisect each other. 4. The opposite angles are congruent in pairs. 5. The sum of the squares of the sides equals the sum of the squares of the diagonals. (This is the parallelogram law) 6.It possesses rotational symmetry. 7.One pair of opposite sides are parallel and congruent. 8.Two pairs of adjacent angles are supplementary. hp.json http://purl.obolibrary.org/obo/PATO_0002317 value_slim RO:0002163 biolink:NamedThing spatially disjoint from A is spatially_disjoint_from B if and only if they have no parts in common hp.json http://purl.obolibrary.org/obo/RO_0002163 ro-eco PATO:0002318 biolink:NamedThing superelliptic A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt hp.json Lamé curve http://purl.obolibrary.org/obo/PATO_0002318 RO:0002158 biolink:NamedThing shares ancestor with two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a. RO:0002158 hp.json http://purl.obolibrary.org/obo/RO_0002158 RO:0002159 biolink:NamedThing serially homologous to RO:0002159 hp.json http://purl.obolibrary.org/obo/RO_0002159 UBERON:5102389 biolink:AnatomicalEntity manual digit digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit plus the associated metapodial element. hp.json manual digit skeleton|manual digit http://purl.obolibrary.org/obo/UBERON_5102389 HP:0100149 biolink:PhenotypicFeature Enlarged epiphysis of the middle phalanx of the 3rd toe UMLS:C4022272 hp.json Enlarged end part of the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100149 HP:0100147 biolink:PhenotypicFeature Bracket epiphysis of the middle phalanx of the 3rd toe UMLS:C4022274 hp.json Bracket shaped end part of the middle bone of 3rd toe http://purl.obolibrary.org/obo/HP_0100147 HP:0100148 biolink:PhenotypicFeature Cone-shaped epiphysis of the middle phalanx of the 3rd toe UMLS:C4022273 hp.json Cone-shaped end part of the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100148 HP:0100145 biolink:PhenotypicFeature Triangular epiphysis of the distal phalanx of the 3rd toe UMLS:C4022276 hp.json Triangular end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100145 HP:0100146 biolink:PhenotypicFeature Absent epiphysis of the middle phalanx of the 3rd toe UMLS:C4022275 hp.json Absent end part of the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100146 PR:Q05117 biolink:Protein tartrate-resistant acid phosphatase type 5 (mouse) A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of mouse. UniProtKB:Q05117 hp.json TrATPase (mouse)|mACP5|Acp5|TR-AP (mouse)|T5ap|type 5 acid phosphatase (mouse)|Trap|tartrate-resistant acid ATPase (mouse) http://purl.obolibrary.org/obo/PR_Q05117 HP:0100143 biolink:PhenotypicFeature Small epiphysis of the distal phalanx of the 3rd toe UMLS:C4022278 hp.json Small end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100143 HP:0100144 biolink:PhenotypicFeature Stippling of the epiphysis of the distal phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe. UMLS:C4022277 hp.json Speckled calcifications in the end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100144 PATO:0002326 biolink:NamedThing angle An orientation inhering in a bearer by virtue of the bearer's placement at an angle. hp.json http://purl.obolibrary.org/obo/PATO_0002326 relational_slim|attribute_slim HP:0100141 biolink:PhenotypicFeature Ivory epiphysis of the distal phalanx of the 3rd toe UMLS:C4022280 hp.json Increased bone density of end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100141 PATO:0002327 biolink:NamedThing increased angle to An angle which is relatively high. hp.json http://purl.obolibrary.org/obo/PATO_0002327 value_slim|relational_slim HP:0100142 biolink:PhenotypicFeature Pseudoepiphysis of the distal phalanx of the 3rd toe UMLS:C4022279 hp.json http://purl.obolibrary.org/obo/HP_0100142 PATO:0002324 biolink:NamedThing offset quality The temporal relation between the end of the process with respect to a reference process. hp.json completeness|extent http://purl.obolibrary.org/obo/PATO_0002324 attribute_slim RO:0002156 biolink:NamedThing derived by descent from d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a. hp.json http://purl.obolibrary.org/obo/RO_0002156 PATO:0002325 biolink:NamedThing onset quality The temporal relation between the start of the process with respect to a reference process. hp.json initiation http://purl.obolibrary.org/obo/PATO_0002325 attribute_slim HP:0100140 biolink:PhenotypicFeature Irregular epiphysis of the distal phalanx of the 3rd toe UMLS:C4022281 hp.json Irregular end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100140 RO:0002157 biolink:NamedThing has derived by descendant inverse of derived by descent from hp.json http://purl.obolibrary.org/obo/RO_0002157 RO:0002150 biolink:NamedThing continuous with X continuous_with Y if and only if X and Y share a fiat boundary. RO:0002150 hp.json http://purl.obolibrary.org/obo/RO_0002150 PATO:0002328 biolink:NamedThing decreased angle to An angle which is relatively low. hp.json http://purl.obolibrary.org/obo/PATO_0002328 value_slim|relational_slim PATO:0002323 biolink:NamedThing temporal distribution quality A temporal distribution pattern of process occurrences within a regulation/reference process. hp.json http://purl.obolibrary.org/obo/PATO_0002323 attribute_slim GO:0032774 biolink:BiologicalProcess RNA biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. hp.json RNA synthesis|RNA biosynthesis|RNA formation|RNA anabolism http://purl.obolibrary.org/obo/GO_0032774 PR:Q07763 biolink:Protein natural killer cell receptor 2B4 (mouse) A natural killer cell receptor 2B4 that is encoded in the genome of mouse. UniProtKB:Q07763 hp.json mCD244|NKR2B4 (mouse)|SLAM family member 4 (mouse)|signaling lymphocytic activation molecule 4 (mouse)|non-MHC restricted killing associated (mouse)|Nmrk|2b4|NK cell type I receptor protein 2B4 (mouse)|SLAMF4 (mouse)|Cd244|CD244 (mouse) http://purl.obolibrary.org/obo/PR_Q07763 HP:0100158 biolink:PhenotypicFeature Bracket epiphysis of the proximal phalanx of the 3rd toe UMLS:C4022263 hp.json Bracket shaped end part of the innermost bone of 3rd toe http://purl.obolibrary.org/obo/HP_0100158 HP:0100159 biolink:PhenotypicFeature Cone-shaped epiphysis of the proximal phalanx of the 3rd toe UMLS:C4022262 hp.json Cone-shaped end part of the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100159 HP:0100156 biolink:PhenotypicFeature Triangular epiphysis of the middle phalanx of the 3rd toe UMLS:C4022265 hp.json Triangular end part of the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100156 HP:0100157 biolink:PhenotypicFeature Absent epiphysis of the proximal phalanx of the 3rd toe UMLS:C4022264 hp.json Absent end part of the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100157 HP:0100154 biolink:PhenotypicFeature Small epiphysis of the middle phalanx of the 3rd toe UMLS:C4022267 hp.json Small end part of the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100154 GO:0030103 biolink:NamedThing vasopressin secretion hp.json http://purl.obolibrary.org/obo/GO_0030103 HP:0100155 biolink:PhenotypicFeature Stippling of the epiphysis of the middle phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe. UMLS:C4022266 hp.json Speckled calcifications in the end part of the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100155 GO:0030104 biolink:NamedThing water homeostasis hp.json http://purl.obolibrary.org/obo/GO_0030104 HP:0100152 biolink:PhenotypicFeature Ivory epiphysis of the middle phalanx of the 3rd toe UMLS:C4022269 hp.json Increased bone density of end part of the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100152 HP:0100153 biolink:PhenotypicFeature Pseudoepiphysis of the middle phalanx of the 3rd toe UMLS:C4022268 hp.json http://purl.obolibrary.org/obo/HP_0100153 HP:0100150 biolink:PhenotypicFeature Fragmentation of the epiphysis of the middle phalanx of the 3rd toe UMLS:C4022271 hp.json Fragmentation of the end part of the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100150 HP:0100151 biolink:PhenotypicFeature Irregular epiphysis of the middle phalanx of the 3rd toe UMLS:C4022270 hp.json Irregular end part of the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100151 OBO:chebi#is_conjugate_acid_of biolink:NamedThing is conjugate acid of hp.json http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of GO:0017148 biolink:BiologicalProcess negative regulation of translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. hp.json downregulation of protein biosynthetic process|negative regulation of protein anabolism|down regulation of protein biosynthetic process|negative regulation of protein synthesis|inhibition of protein biosynthetic process|protein biosynthetic process inhibitor activity|negative regulation of protein biosynthesis|down-regulation of protein biosynthetic process|protein biosynthesis inhibitor activity|negative regulation of protein biosynthetic process|negative regulation of protein formation http://purl.obolibrary.org/obo/GO_0017148 GO:0017145 biolink:BiologicalProcess stem cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. hp.json stem cell renewal http://purl.obolibrary.org/obo/GO_0017145 HP:0100169 biolink:PhenotypicFeature Absent epiphysis of the distal phalanx of the 4th toe UMLS:C4022252 hp.json Absent end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100169 UBERON:0006919 biolink:AnatomicalEntity tongue squamous epithelium A squamous epithelium that is part of a tongue. MA:0002786 hp.json squamous epithelium of tongue http://purl.obolibrary.org/obo/UBERON_0006919 pheno_slim HP:0100167 biolink:PhenotypicFeature Triangular epiphysis of the proximal phalanx of the 3rd toe UMLS:C4022254 hp.json Triangular end part of the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100167 HP:0100168 biolink:PhenotypicFeature Fragmented epiphyses Fragmented appearance of the epiphyses. UMLS:C4022253 hp.json Fragmented end part of bone http://purl.obolibrary.org/obo/HP_0100168 UBERON:0006916 biolink:AnatomicalEntity non-keratinized epithelium of tongue A non-keratinized stratified squamous epithelium that is part of a tongue. FMA:62130 hp.json http://purl.obolibrary.org/obo/UBERON_0006916 UBERON:0006915 biolink:AnatomicalEntity stratified squamous epithelium Multilaminar epithelium which consists of more than one layer of squamous cells only one layer of which is in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, epithelium of wall of esophagus.[FMA]. Wikipedia:Stratified_squamous_epithelium|UMLS:C0836131|FMA:45563|NCIT:C13180 hp.json epithelium stratificatum squamosum http://purl.obolibrary.org/obo/UBERON_0006915 pheno_slim HP:0100165 biolink:PhenotypicFeature Small epiphysis of the proximal phalanx of the 3rd toe UMLS:C4022256 hp.json Small end part of the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100165 UBERON:0006914 biolink:AnatomicalEntity squamous epithelium An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. BTO:0002072|Wikipedia:Squamous_epithelium|SCTID:40118003|NCIT:C12848|UMLS:C0221909 hp.json http://purl.obolibrary.org/obo/UBERON_0006914 HP:0100166 biolink:PhenotypicFeature Stippling of the epiphysis of the proximal phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe. UMLS:C4022255 hp.json Speckled calcifications in of the end part of the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100166 HP:0100163 biolink:PhenotypicFeature Ivory epiphysis of the proximal phalanx of the 3rd toe UMLS:C4022258 hp.json Increased bone density of end part of the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100163 HP:0100164 biolink:PhenotypicFeature Pseudoepiphysis of the proximal phalanx of the 3rd toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe. UMLS:C4022257 hp.json http://purl.obolibrary.org/obo/HP_0100164 RO:0002134 biolink:NamedThing innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. RO:0002134 hp.json http://purl.obolibrary.org/obo/RO_0002134 HP:0100161 biolink:PhenotypicFeature Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe UMLS:C4022260 hp.json Fragmentation of the end part of the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100161 GO:0042168 biolink:BiologicalProcess heme metabolic process The chemical reactions and pathways involving heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring. hp.json haem metabolic process|heme metabolism|haem metabolism http://purl.obolibrary.org/obo/GO_0042168 HP:0100162 biolink:PhenotypicFeature Irregular epiphysis of the proximal phalanx of the 3rd toe UMLS:C4022259 hp.json Irregular end part of the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100162 HP:0100160 biolink:PhenotypicFeature Enlarged epiphysis of the proximal phalanx of the 3rd toe UMLS:C4022261 hp.json Enlarged end part of the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100160 RO:0002131 biolink:NamedThing overlaps x overlaps y if and only if there exists some z such that x has part z and z part of y RO:0002131 hp.json http://purl.obolibrary.org/obo/RO_0002131 ro-eco|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension UBERON:0006924 biolink:AnatomicalEntity stomach glandular epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. FMA:63458|EMAPA:35814|EMAPA:17623|MA:0002784 hp.json gastric gland epithelium|epithelium of gastric gland http://purl.obolibrary.org/obo/UBERON_0006924 pheno_slim UBERON:0006923 biolink:AnatomicalEntity vagina squamous epithelium A squamous epithelium that is part of a vagina. NCIT:C49314|EMAPA:37794|UMLS:C1711259|MA:0001731 hp.json vaginal squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006923 UBERON:0006922 biolink:AnatomicalEntity cervix squamous epithelium The squamous epithelium of the cervical portio is similar to that of the vagina, except that it is generally smooth and lacks rete pegs. Colposcopically, it appears featureless except for a fine network of vessels which is sometimes visible. The relative opacity and pale pink coloration of the squamous epithelium derives from its multi-layered histology and the location of its supporting vessels below the basement membrane. UMLS:C1707351|MA:0001725|NCIT:C49219 hp.json cervical squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006922 pheno_slim|human_reference_atlas UBERON:0006921 biolink:AnatomicalEntity stomach squamous epithelium A squamous epithelium that is part of a stomach. EMAPA:35824|MA:0001611 hp.json http://purl.obolibrary.org/obo/UBERON_0006921 pheno_slim UBERON:0006920 biolink:AnatomicalEntity esophagus squamous epithelium A squamous epithelium that is part of a esophagus. BTO:0003635|NCIT:C49222|EMAPA:35324|MA:0001567|UMLS:C1707950|CALOHA:TS-1250 hp.json squamous epithelium of esophagus|squamous oesophageal epithelium|esophageal squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006920 pheno_slim UBERON:0006909 biolink:AnatomicalEntity lumen of digestive tract An anatomical space that surrounded_by a digestive tract. BTO:0000349|FMA:45677|EMAPA:32908 hp.json gut lumen|lumen of alimentary tract|digestive tract lumen|lumen of gut|lumen of digestive tract|lumen of alimentary tract|digestive tract lumen|gut cavity|lumen of digestive tract http://purl.obolibrary.org/obo/UBERON_0006909 UBERON:0006906 biolink:AnatomicalEntity ala of nose The lateral surface parts of the external nose, inferiorly, surrounding the naris[EoM]. FMA:59519 hp.json wing of nose|wing of the nose|wings of the nose|ala nasi|nasal ala|ala nasi|ala of the nose http://purl.obolibrary.org/obo/UBERON_0006906 pheno_slim HP:0100178 biolink:PhenotypicFeature Stippling of the epiphysis of the distal phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe. UMLS:C4022243 hp.json Speckled calcifications in the end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100178 UBERON:0006905 biolink:AnatomicalEntity mandibular process mesenchyme Mesenchyme that is part of a mandibular prominence. EHDAA:5873|EHDAA:5861|EHDAA2:0001062|EMAPA:17357 hp.json mesenchyme of mandibular process|mesenchyme of mandibular prominence|mesenchyme of mandibular prominence http://purl.obolibrary.org/obo/UBERON_0006905 HP:0100179 biolink:PhenotypicFeature Triangular epiphysis of the distal phalanx of the 4th toe UMLS:C4022242 hp.json Triangular end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100179 UBERON:0006904 biolink:AnatomicalEntity head mesenchyme from mesoderm A head mesenchyme that develops_from a mesoderm. VHOG:0000185|EHDAA2:0001118|EHDAA:655|EMAPA:16099|EFO:0003603|XAO:0000053|EFO:0003337|ZFA:0000998|AAO:0011051|EMAPA_RETIRED:16270|TAO:0000998|FMA:293859 hp.json head mesenchyme from mesoderm|mesenchyme derived from head mesoderm|head mesenchyme derived from mesoderm|head mesenchyme from head mesoderm|head mesoderm|mesenchyme from head mesoderm|cranial mesoderm http://purl.obolibrary.org/obo/UBERON_0006904 vertebrate_core|efo_slim HP:0100176 biolink:PhenotypicFeature Pseudoepiphysis of the distal phalanx of the 4th toe UMLS:C4022245 hp.json http://purl.obolibrary.org/obo/HP_0100176 HP:0100177 biolink:PhenotypicFeature Small epiphysis of the distal phalanx of the 4th toe UMLS:C4022244 hp.json Small end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100177 HP:0100174 biolink:PhenotypicFeature Irregular epiphysis of the distal phalanx of the 4th toe UMLS:C4022247 hp.json Irregular end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100174 HP:0100175 biolink:PhenotypicFeature Ivory epiphysis of the distal phalanx of the 4th toe UMLS:C4022246 hp.json Increased bone density of end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100175 HP:0100172 biolink:PhenotypicFeature Enlarged epiphysis of the distal phalanx of the 4th toe UMLS:C4022249 hp.json Enlarged end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100172 HP:0100173 biolink:PhenotypicFeature Fragmentation of the epiphysis of the distal phalanx of the 4th toe UMLS:C4022248 hp.json Fragmentation of the end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100173 HP:0100170 biolink:PhenotypicFeature Bracket epiphysis of the distal phalanx of the 4th toe UMLS:C4022251 hp.json Bracket shaped end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100170 HP:0100171 biolink:PhenotypicFeature Cone-shaped epiphysis of the distal phalanx of the 4th toe UMLS:C4022250 hp.json Cone-shaped end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100171 GO:0042175 biolink:CellularComponent nuclear outer membrane-endoplasmic reticulum membrane network The continuous network of membranes encompassing the nuclear outer membrane and the endoplasmic reticulum membrane. hp.json nuclear envelope-endoplasmic reticulum continuum|NE-ER network|nuclear envelope-ER network|nuclear membrane-ER network|NE-ER continuum|nuclear envelope-endoplasmic reticulum network|nuclear membrane-endoplasmic reticulum continuum http://purl.obolibrary.org/obo/GO_0042175 GO:0017126 biolink:BiologicalProcess nucleologenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. hp.json nucleolus biogenesis|nucleolus assembly http://purl.obolibrary.org/obo/GO_0017126 UBERON:0006913 biolink:AnatomicalEntity lip epithelium An epithelium that is part of a lip. ZFA:0005334|TAO:0005334|BTO:0004468 hp.json http://purl.obolibrary.org/obo/UBERON_0006913 GO:0042181 biolink:BiologicalProcess ketone biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. hp.json ketone formation|ketone anabolism|ketone synthesis|ketone biosynthesis http://purl.obolibrary.org/obo/GO_0042181 GO:0042180 biolink:BiologicalProcess cellular ketone metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. hp.json ketone metabolism http://purl.obolibrary.org/obo/GO_0042180 goslim_pir GO:0042182 biolink:BiologicalProcess ketone catabolic process The chemical reactions and pathways resulting in the breakdown of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. hp.json ketone breakdown|ketone catabolism|ketone degradation http://purl.obolibrary.org/obo/GO_0042182 HP:0100189 biolink:PhenotypicFeature Stippling of the epiphysis of the middle phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe. UMLS:C4022232 hp.json Speckled calcifications in the end part of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100189 HP:0100187 biolink:PhenotypicFeature Pseudoepiphysis of the middle phalanx of the 4th toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe. UMLS:C4022234 hp.json http://purl.obolibrary.org/obo/HP_0100187 HP:0100188 biolink:PhenotypicFeature Small epiphysis of the middle phalanx of the 4th toe UMLS:C4022233 hp.json Small end part of middle long bone of 4th toe http://purl.obolibrary.org/obo/HP_0100188 HP:0100185 biolink:PhenotypicFeature Irregular epiphysis of the middle phalanx of the 4th toe UMLS:C4022236 hp.json Irregular end part of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100185 HP:0100186 biolink:PhenotypicFeature Ivory epiphysis of the middle phalanx of the 4th toe UMLS:C4022235 hp.json Increased bone density of end part of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100186 HP:0100183 biolink:PhenotypicFeature Enlarged epiphysis of the middle phalanx of the 4th toe UMLS:C4022238 hp.json Enlarged end part of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100183 HP:0100184 biolink:PhenotypicFeature Fragmentation of the epiphysis of the middle phalanx of the 4th toe UMLS:C4022237 hp.json Fragmentation of the end part of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100184 HP:0100181 biolink:PhenotypicFeature Bracket epiphysis of the middle phalanx of the 4th toe UMLS:C4022240 hp.json Bracket shaped end part of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100181 HP:0100182 biolink:PhenotypicFeature Cone-shaped epiphysis of the middle phalanx of the 4th toe UMLS:C4022239 hp.json Cone-shaped end part of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100182 HP:0100180 biolink:PhenotypicFeature Absent epiphysis of the middle phalanx of the 4th toe UMLS:C4022241 hp.json Absent end part of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100180 RO:0002104 biolink:NamedThing has plasma membrane part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. hp.json http://purl.obolibrary.org/obo/RO_0002104 GO:0019755 biolink:BiologicalProcess one-carbon compound transport The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json one carbon compound transport http://purl.obolibrary.org/obo/GO_0019755 GO:0019752 biolink:BiologicalProcess carboxylic acid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). hp.json carboxylic acid metabolism http://purl.obolibrary.org/obo/GO_0019752 GO:0032722 biolink:BiologicalProcess positive regulation of chemokine production Any process that activates or increases the frequency, rate, or extent of chemokine production. hp.json positive regulation of chemokine biosynthetic process|upregulation of chemokine production|positive regulation of chemokine secretion|up regulation of chemokine production|stimulation of chemokine production|activation of chemokine production|up-regulation of chemokine production http://purl.obolibrary.org/obo/GO_0032722 HP:0100198 biolink:PhenotypicFeature Pseudoepiphysis of the proximal phalanx of the 4th toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe. UMLS:C4022223 hp.json http://purl.obolibrary.org/obo/HP_0100198 GO:0005126 biolink:MolecularActivity cytokine receptor binding Binding to a cytokine receptor. hp.json hematopoietin/interferon-class (D200-domain) cytokine receptor ligand|hematopoietin/interferon-class (D200-domain) cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005126 HP:0100199 biolink:PhenotypicFeature Small epiphysis of the proximal phalanx of the 4th toe UMLS:C4022222 hp.json Small end part of the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100199 HP:0100196 biolink:PhenotypicFeature Irregular epiphysis of the proximal phalanx of the 4th toe UMLS:C4022225 hp.json Irregular end part of the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100196 HP:0100197 biolink:PhenotypicFeature Ivory epiphysis of the proximal phalanx of the 4th toe UMLS:C4022224 hp.json Increased bone density of end part of the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100197 RO:0002100 biolink:NamedThing has soma location Relation between a neuron and an anatomical structure that its soma is part of. hp.json http://purl.obolibrary.org/obo/RO_0002100 HP:0100194 biolink:PhenotypicFeature Enlarged epiphysis of the proximal phalanx of the 4th toe UMLS:C4022227 hp.json Enlarged end part of the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100194 HP:0100195 biolink:PhenotypicFeature Fragmentation of the epiphysis of the proximal phalanx of the 4th toe UMLS:C4022226 hp.json Fragmentation of the end part of the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100195 HP:0100192 biolink:PhenotypicFeature Bracket epiphysis of the proximal phalanx of the 4th toe UMLS:C4022229 hp.json Bracket shaped end part of the innermost bone of 4th toe http://purl.obolibrary.org/obo/HP_0100192 HP:0100193 biolink:PhenotypicFeature Cone-shaped epiphysis of the proximal phalanx of the 4th toe UMLS:C4022228 hp.json Cone-shaped end part of the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100193 HP:0100190 biolink:PhenotypicFeature Triangular epiphysis of the middle phalanx of the 4th toe UMLS:C4022231 hp.json Triangular end part of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100190 HP:0100191 biolink:PhenotypicFeature Absent epiphysis of the proximal phalanx of the 4th toe UMLS:C4022230 hp.json Absent end part of the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100191 CHEBI:140601 biolink:ChemicalSubstance fatty acid 4:0 Any saturated fatty acid containing 4 carbons. hp.json http://purl.obolibrary.org/obo/CHEBI_140601 3_STAR CHEBI:59999 biolink:ChemicalSubstance chemical substance A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. hp.json Chemische Substanz http://purl.obolibrary.org/obo/CHEBI_59999 3_STAR NBO:0000339 biolink:NamedThing motor coordination "The coordination of combinations of body movements created with the kinematic (such as spatial direction) and kinetic (force) parameters that result in intended actions." [wikipedia:Motor_coordination] hp.json http://purl.obolibrary.org/obo/NBO_0000339 NBO:0000338 biolink:NamedThing kinesthetic behavior "Movement behavior of the body or its parts." hp.json http://purl.obolibrary.org/obo/NBO_0000338 GO:0044706 biolink:BiologicalProcess multi-multicellular organism process A multicellular organism process which involves another multicellular organism of the same or different species. hp.json http://purl.obolibrary.org/obo/GO_0044706 GO:0044703 biolink:BiologicalProcess multi-organism reproductive process A biological process that directly contributes to the process of producing new individuals, involving another organism. hp.json http://purl.obolibrary.org/obo/GO_0044703 goslim_drosophila NBO:0000347 biolink:NamedThing gross motor coordination "The coordination of large muscle groups and whole body movement." [NBO:GVG] hp.json whole body coordination|large muscle coordination http://purl.obolibrary.org/obo/NBO_0000347 NBO:0000355 biolink:NamedThing posture "Intentionally or habitually assumed arrangement of the body and its limbs." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000355 NBO:0000317 biolink:NamedThing vestibular behavior "Behavior related to the awareness of body balance and movement." [MBP:GVG] hp.json proprioception http://purl.obolibrary.org/obo/NBO_0000317 NBO:0000313 biolink:NamedThing behavior process "The action, reaction, or performance of an organism in response to external or internal stimuli." [GO:GO\:0007610] hp.json behavior|behaviour http://purl.obolibrary.org/obo/NBO_0000313 GO:0030193 biolink:BiologicalProcess regulation of blood coagulation Any process that modulates the frequency, rate or extent of blood coagulation. hp.json http://purl.obolibrary.org/obo/GO_0030193 HP:0004499 biolink:PhenotypicFeature Chronic rhinitis due to narrow nasal airway UMLS:C4025318 hp.json Chronic nasal inflammation due to narrow nasal airway http://purl.obolibrary.org/obo/HP_0004499 HP:0004493 biolink:PhenotypicFeature Craniofacial hyperostosis Excessive growth of the craniofacial bones. UMLS:C4280518|UMLS:C4280517|UMLS:C4280516|UMLS:C1868085 hp.json Excessive growth of craniofacial bones|Enlargement of craniofacial bones|Hyperostosis of craniofacial bones|Excessive bone growth of the skull and face|Hypertrophy of craniofacial bones|Overgrowth of craniofacial bones|Increased ossification of craniofacial bones|Thick craniofacial bones http://purl.obolibrary.org/obo/HP_0004493 hposlim_core HP:0004492 biolink:PhenotypicFeature Widely patent fontanelles and sutures An abnormally increased width of the cranial fontanelles and sutures. UMLS:C1849300 hp.json Widely patent fontanels and sutures http://purl.obolibrary.org/obo/HP_0004492 GO:0030198 biolink:BiologicalProcess extracellular matrix organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. hp.json extracellular matrix organization and biogenesis|extracellular matrix organisation http://purl.obolibrary.org/obo/GO_0030198 goslim_generic|goslim_drosophila|goslim_chembl HP:0004491 biolink:PhenotypicFeature Large posterior fontanelle An enlargement of the posterior fontanelle relative to age-dependent norms. UMLS:C1855233 hp.json Large posterior fontanel http://purl.obolibrary.org/obo/HP_0004491 HP:0004490 biolink:PhenotypicFeature Calvarial hyperostosis Excessive growth of the calvaria. UMLS:C1863351|UMLS:C4280519|MSH:C537963|UMLS:C4280520 hp.json Thick calvarial bones|Overgrowth of calvarial bones|Hypertrophy of calvarial bones|Overgrowth of skullcap|Enlargement of calvarial bones|Increased ossification of calvarial bones|Excessive growth of calvarial bones|Hyperostosis of calvarial bones http://purl.obolibrary.org/obo/HP_0004490 GO:0030199 biolink:BiologicalProcess collagen fibril organization Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix. hp.json collagen fibril organisation|fibrillar collagen organization http://purl.obolibrary.org/obo/GO_0030199 HP:0004496 biolink:PhenotypicFeature obsolete Posterior choanal atresia hp.json http://purl.obolibrary.org/obo/HP_0004496 GO:0030194 biolink:BiologicalProcess positive regulation of blood coagulation Any process that activates or increases the frequency, rate or extent of blood coagulation. hp.json up regulation of blood coagulation|activation of blood coagulation|stimulation of blood coagulation|upregulation of blood coagulation|up-regulation of blood coagulation http://purl.obolibrary.org/obo/GO_0030194 HP:0004495 biolink:PhenotypicFeature Thin anteverted nares UMLS:C1834056 hp.json http://purl.obolibrary.org/obo/HP_0004495 GO:0030195 biolink:BiologicalProcess negative regulation of blood coagulation Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. hp.json down-regulation of blood coagulation|down regulation of blood coagulation|downregulation of blood coagulation|inhibition of blood coagulation http://purl.obolibrary.org/obo/GO_0030195 NBO:0000327 biolink:NamedThing somatic sensation related behavior "Behavior related to the sensations arising from the skin and from the muscles, tendons, and joints." [OBP:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000327 GO:0030182 biolink:BiologicalProcess neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron. hp.json http://purl.obolibrary.org/obo/GO_0030182 GO:0030187 biolink:NamedThing melatonin biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0030187 GO:0030186 biolink:NamedThing melatonin metabolic process hp.json http://purl.obolibrary.org/obo/GO_0030186 GO:0030183 biolink:BiologicalProcess B cell differentiation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. hp.json B-lymphocyte differentiation|B cell development|B-cell differentiation|B lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0030183 CHEBI:84981 biolink:ChemicalSubstance 2-aminoadipate(2-) A dicarboxylic acid dianion that is the conjugate base of 2-aminoadipic acid. hp.json 2-aminohexanedioate|alpha-aminoadipate http://purl.obolibrary.org/obo/CHEBI_84981 3_STAR NBO:0000388 biolink:NamedThing involuntary movement behavior "Behavior related to movements that occur independent of planning." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000388 NBO:0000389 biolink:NamedThing reflexive behavior "Behavior related to involuntary movement in response to a stimulus." [NBO:GVG] hp.json reflex behaviour http://purl.obolibrary.org/obo/NBO_0000389 GO:0030168 biolink:BiologicalProcess platelet activation A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. hp.json blood coagulation, platelet activation http://purl.obolibrary.org/obo/GO_0030168 HP:0100105 biolink:PhenotypicFeature Irregular epiphysis of the distal phalanx of the 2nd toe UMLS:C4022316 hp.json Irregular end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100105 HP:0100106 biolink:PhenotypicFeature Ivory epiphysis of the distal phalanx of the 2nd toe UMLS:C4022315 hp.json Increased bone density of end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100106 HP:0100103 biolink:PhenotypicFeature Enlarged epiphysis of the distal phalanx of the 2nd toe UMLS:C4022318 hp.json Enlarged end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100103 HP:0100104 biolink:PhenotypicFeature Fragmentation of the epiphysis of the distal phalanx of the 2nd toe UMLS:C4022317 hp.json Fragmentation of the end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100104 HP:0100101 biolink:PhenotypicFeature Bracket epiphysis of the distal phalanx of the 2nd toe UMLS:C4022320 hp.json Bracket shaped end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100101 HP:0100102 biolink:PhenotypicFeature Cone-shaped epiphysis of the distal phalanx of the 2nd toe UMLS:C4022319 hp.json Cone-shaped end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100102 HP:0100100 biolink:PhenotypicFeature Absent epiphysis of the distal phalanx of the 2nd toe UMLS:C4022321 hp.json Absent end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100100 GO:0042100 biolink:BiologicalProcess B cell proliferation The expansion of a B cell population by cell division. Follows B cell activation. hp.json B-cell proliferation|B lymphocyte proliferation|B-lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0042100 GO:0042103 biolink:BiologicalProcess positive regulation of T cell homeostatic proliferation Any process that activates or increases the rate or extent of resting T cell proliferation. hp.json up-regulation of T cell homeostatic proliferation|activation of T cell homeostatic proliferation|positive regulation of T-lymphocyte homeostatic proliferation|upregulation of T cell homeostatic proliferation|positive regulation of resting T cell proliferation|up regulation of T cell homeostatic proliferation|positive regulation of T-cell homeostatic proliferation|stimulation of T cell homeostatic proliferation|positive regulation of T lymphocyte homeostatic proliferation http://purl.obolibrary.org/obo/GO_0042103 GO:0042102 biolink:BiologicalProcess positive regulation of T cell proliferation Any process that activates or increases the rate or extent of T cell proliferation. hp.json positive regulation of T-lymphocyte proliferation|upregulation of T cell proliferation|stimulation of T cell proliferation|up regulation of T cell proliferation|positive regulation of T lymphocyte proliferation|activation of T cell proliferation|up-regulation of T cell proliferation http://purl.obolibrary.org/obo/GO_0042102 GO:0030154 biolink:BiologicalProcess cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. Wikipedia:Cellular_differentiation hp.json http://purl.obolibrary.org/obo/GO_0030154 goslim_drosophila|goslim_chembl|goslim_mouse|goslim_agr|goslim_generic|goslim_plant GO:0030155 biolink:BiologicalProcess regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. hp.json cell adhesion receptor regulator activity http://purl.obolibrary.org/obo/GO_0030155 HP:0100109 biolink:PhenotypicFeature Stippling of the epiphysis of the distal phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe. UMLS:C4022312 hp.json Speckled calcifications in the end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100109 HP:0100107 biolink:PhenotypicFeature Pseudoepiphysis of the distal phalanx of the 2nd toe UMLS:C4022314 hp.json http://purl.obolibrary.org/obo/HP_0100107 HP:0100108 biolink:PhenotypicFeature Small epiphysis of the distal phalanx of the 2nd toe UMLS:C4022313 hp.json Small end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100108 HP:0100116 biolink:PhenotypicFeature Irregular epiphysis of the middle phalanx of the 2nd toe UMLS:C4022305 hp.json Irregular end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100116 HP:0100117 biolink:PhenotypicFeature Ivory epiphysis of the middle phalanx of the 2nd toe UMLS:C4022304 hp.json Increased bone density of end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100117 HP:0100114 biolink:PhenotypicFeature Enlarged epiphysis of the middle phalanx of the 2nd toe UMLS:C4022307 hp.json Enlarged end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100114 HP:0100115 biolink:PhenotypicFeature Fragmentation of the epiphysis of the middle phalanx of the 2nd toe UMLS:C4022306 hp.json Fragmentation of the end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100115 HP:0100112 biolink:PhenotypicFeature Bracket epiphysis of the middle phalanx of the 2nd toe UMLS:C4022309 hp.json Bracket shaped end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100112 HP:0100113 biolink:PhenotypicFeature Cone-shaped epiphysis of the middle phalanx of the 2nd toe UMLS:C4022308 hp.json Cone-shaped end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100113 HP:0100110 biolink:PhenotypicFeature Triangular epiphysis of the distal phalanx of the 2nd toe UMLS:C4022311 hp.json Triangular end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100110 HP:0100111 biolink:PhenotypicFeature Absent epiphysis of the middle phalanx of the 2nd toe UMLS:C4022310 hp.json Absent end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100111 GO:0042113 biolink:BiologicalProcess B cell activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. hp.json B lymphocyte activation|B-cell activation|B-lymphocyte activation http://purl.obolibrary.org/obo/GO_0042113 GO:0042110 biolink:BiologicalProcess T cell activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. hp.json T-lymphocyte activation|T lymphocyte activation|T-cell activation http://purl.obolibrary.org/obo/GO_0042110 GO:0042119 biolink:BiologicalProcess neutrophil activation The change in morphology and behavior of a neutrophil resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. hp.json http://purl.obolibrary.org/obo/GO_0042119 GO:0042116 biolink:BiologicalProcess macrophage activation A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. hp.json macrophage polarization http://purl.obolibrary.org/obo/GO_0042116 GO:0042118 biolink:BiologicalProcess endothelial cell activation The change in morphology and behavior of an endothelial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. hp.json http://purl.obolibrary.org/obo/GO_0042118 GO:0042117 biolink:BiologicalProcess monocyte activation The change in morphology and behavior of a monocyte resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. hp.json http://purl.obolibrary.org/obo/GO_0042117 GO:0030141 biolink:CellularComponent secretory granule A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. hp.json secretory vesicle http://purl.obolibrary.org/obo/GO_0030141 HP:0100118 biolink:PhenotypicFeature Pseudoepiphysis of the middle phalanx of the 2nd toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe. UMLS:C4022303 hp.json http://purl.obolibrary.org/obo/HP_0100118 HP:0100119 biolink:PhenotypicFeature Small epiphysis of the middle phalanx of the 2nd toe UMLS:C4022302 hp.json Small end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100119 CHEBI:59905 biolink:ChemicalSubstance dopaminium(1+) An ammonium ion that is the conjugate acid of dopamine; major species at pH 7.3. Gmelin:328863 hp.json dopaminium cation|2-(3,4-dihydroxyphenyl)ethan-1-aminium|2-(3,4-dihydroxyphenyl)ethanaminium|dopamine http://purl.obolibrary.org/obo/CHEBI_59905 3_STAR UBERON:0004385 biolink:AnatomicalEntity epiphysis of radius An epiphysis that is part of a radius [Automatically generated definition]. FMA:33770 hp.json radial epiphysis http://purl.obolibrary.org/obo/UBERON_0004385 pheno_slim UBERON:0004386 biolink:AnatomicalEntity epiphysis of ulna An epiphysis that is part of an ulna [Automatically generated definition]. FMA:33748 hp.json ulnar epiphysis http://purl.obolibrary.org/obo/UBERON_0004386 pheno_slim HP:0004434 biolink:PhenotypicFeature Decreased serum complement C8 A reduced level of the complement component C8 in circulation. UMLS:C3151082 hp.json C8 deficiency http://purl.obolibrary.org/obo/HP_0004434 UBERON:0004383 biolink:AnatomicalEntity epiphysis of tibia An epiphysis that is part of a tibia [Automatically generated definition]. EMAPA:37771|FMA:33112|MA:0003113 hp.json tibial epiphysis http://purl.obolibrary.org/obo/UBERON_0004383 pheno_slim HP:0004433 biolink:PhenotypicFeature Secretory IgA deficiency Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. SNOMEDCT_US:234554004|UMLS:C0398709|MSH:C562869 hp.json http://purl.obolibrary.org/obo/HP_0004433 HP:0004432 biolink:PhenotypicFeature Agammaglobulinemia A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. UMLS:C0001768|SNOMEDCT_US:119249001|MSH:D000361 hp.json Agammaglobulinaemia http://purl.obolibrary.org/obo/HP_0004432 UBERON:0004384 biolink:AnatomicalEntity epiphysis of femur An epiphysis that is part of a femur [Automatically generated definition]. EMAPA:37539|FMA:32838|MA:0003056 hp.json femoral epiphysis http://purl.obolibrary.org/obo/UBERON_0004384 pheno_slim UBERON:0004381 biolink:AnatomicalEntity skeleton of limb The collection of all skeletal elements in an individual limb. VSAO:0000300|EMAPA:32702|EHDAA2:0002221 hp.json free limb skeleton|set of bones of limb|limb skeleton http://purl.obolibrary.org/obo/UBERON_0004381 CHEBI:35931 biolink:ChemicalSubstance delta-amino acid A non-proteinogenic amino acid in which the amino group is located on the carbon atom at the position delta to the carboxy group. hp.json delta-amino acids http://purl.obolibrary.org/obo/CHEBI_35931 3_STAR HP:0004439 biolink:PhenotypicFeature Craniofacial dysostosis A characteristic appearance resulting from defective ossification of craniofacial bones. SNOMEDCT_US:28861008|UMLS:C0010273|MSH:D003394 hp.json Crouzon syndrome http://purl.obolibrary.org/obo/HP_0004439 UBERON:0004382 biolink:AnatomicalEntity epiphysis of humerus An epiphysis that is part of a humerus [Automatically generated definition]. FMA:32825 hp.json humeral epiphysis http://purl.obolibrary.org/obo/UBERON_0004382 pheno_slim HP:0004438 biolink:PhenotypicFeature Hyperostosis frontalis interna Bony overgrowth of the internal (endosteal) surface of the frontal bone. MSH:D006957|UMLS:C4280527|UMLS:C4280526|UMLS:C4280525|UMLS:C4280524|UMLS:C0020494|SNOMEDCT_US:82054006 hp.json Thick inner surface of the frontal bone|Hypertrophy of the internal surface of the frontal bone|Thick internal surface of the frontal bone|Overgrowth of the inner surface of the frontal bone|Enlargement of the inner surface of the frontal bone|Excessive growth of inner surface of the frontal bone|Increased ossification of the internal surface of the frontal bone|Overgrowth of the inside of the frontal bone|Hyperostosis of the internal surface of the frontal bone http://purl.obolibrary.org/obo/HP_0004438 HP:0004437 biolink:PhenotypicFeature Cranial hyperostosis Excessive growth of the bones of cranium, i.e., of the skull. UMLS:C1832451|UMLS:C4280529|UMLS:C4280528|UMLS:C4280531|UMLS:C4280530 hp.json Overgrowth of skull bones|Hypertrophy of cranial bones|Hyperostosis of cranial vault|Enlargement of skull bones|Excessive growth of skull bones|Increased ossification of cranial bones|Hyperostosis of cranial bones|Thick skull bones http://purl.obolibrary.org/obo/HP_0004437 UBERON:0004380 biolink:AnatomicalEntity proximal epiphysis An epiphysis that is on the proximal side of the bone. FMA:32821 hp.json proximal end of long bone http://purl.obolibrary.org/obo/UBERON_0004380 UBERON:0004389 biolink:AnatomicalEntity epiphysis of metatarsal bone An epiphysis that is part of a metatarsal bone [Automatically generated definition]. FMA:33814 hp.json metatarsal epiphysis|metatarsal bone epiphysis|epiphysis of metatarsal http://purl.obolibrary.org/obo/UBERON_0004389 pheno_slim HP:0004431 biolink:PhenotypicFeature Complement deficiency An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. UMLS:C0272242|SNOMEDCT_US:24743004 hp.json http://purl.obolibrary.org/obo/HP_0004431 HP:0004430 biolink:PhenotypicFeature Severe combined immunodeficiency A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. SNOMEDCT_US:31323000|MSH:D016511|UMLS:C0085110 hp.json Immunodeficiency, severe combined http://purl.obolibrary.org/obo/HP_0004430 UBERON:0004387 biolink:AnatomicalEntity epiphysis of phalanx of manus An epiphysis that is part of a phalanx of a manus [Automatically generated definition]. FMA:240707 hp.json epiphysis of phalanx of finger|epiphysis of phalanx of hand http://purl.obolibrary.org/obo/UBERON_0004387 pheno_slim UBERON:0004388 biolink:AnatomicalEntity epiphysis of fibula An epiphysis that is part of a fibula [Automatically generated definition]. FMA:33726 hp.json fibula epiphysis http://purl.obolibrary.org/obo/UBERON_0004388 pheno_slim CHEBI:23965 biolink:ChemicalSubstance estradiol A 3-hydroxy steroid that is estra-1,3,5(10)-triene substituted by hydroxy groups at positions 3 and 17. PMID:10696569|Wikipedia:Estradiol|PMID:24084694 hp.json oestradiol|estra-1,3,5(10)-triene-3,17-diol http://purl.obolibrary.org/obo/CHEBI_23965 3_STAR CHEBI:11955 biolink:ChemicalSubstance 4-amino-3-hydroxybutanoate The conjugate base of gamma-amino-beta-hydroxybutyric acid arising from deprotonation of the carboxy group. KEGG:C03678|CAS:352-21-6 hp.json 4-Amino-3-hydroxybutanoate http://purl.obolibrary.org/obo/CHEBI_11955 3_STAR UBERON:0004374 biolink:AnatomicalEntity vitelline vasculature Vascular network that is connected to the yolk sac. Wikipedia:Vitelline_circulation hp.json omphalomesenteric system|vitelline system|vitelline bloos vessel system|vitelline system|omphalomesenteric system|vitelline bloos vessel system http://purl.obolibrary.org/obo/UBERON_0004374 pheno_slim HP:0004446 biolink:PhenotypicFeature Stomatocytosis The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. UMLS:C0677598 hp.json Red cell stomatocytosis|erythrocyte stomatocytes http://purl.obolibrary.org/obo/HP_0004446 UBERON:0004375 biolink:AnatomicalEntity bone of free limb or fin A bone that is part of an appendage [Automatically generated definition]. hp.json bone of appendage|appendage bone|bone of free segment of appendicular skeleton http://purl.obolibrary.org/obo/UBERON_0004375 homology_grouping HP:0004445 biolink:PhenotypicFeature Elliptocytosis The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. MSH:D004612|SNOMEDCT_US:250242004|UMLS:C0427480|SNOMEDCT_US:178935009|SNOMEDCT_US:191169008|UMLS:C0013902 hp.json Ovalocytosis|Ovalocytes|Elliptocyte|Hereditary elliptocytosis http://purl.obolibrary.org/obo/HP_0004445 HP:0004444 biolink:PhenotypicFeature Spherocytosis The presence of erythrocytes that are sphere-shaped. UMLS:C0553720|SNOMEDCT_US:17235000 hp.json http://purl.obolibrary.org/obo/HP_0004444 HP:0004443 biolink:PhenotypicFeature Lambdoidal craniosynostosis A kind of craniosynostosis affecting the lambdoidal suture. MSH:D003398|UMLS:C1833340|SNOMEDCT_US:109417006 hp.json Lambdoid suture synostosis|Lambdoid suture craniosynostosis http://purl.obolibrary.org/obo/HP_0004443 hposlim_core UBERON:0004370 biolink:AnatomicalEntity anterior limiting lamina of cornea A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. SCTID:281075003|NCIT:C32226|ZFA:0001684|UMLS:C0229127|FMA:58273|MA:0001240|TAO:0002155|Wikipedia:Bowman%27s_membrane hp.json anterior limiting membrane|Bowman's layer|lamina limitans anterior (cornea)|anterior limiting lamina|lamina limitans anterior corneae|Reichert's membrane|Bowman's membrane|anterior elastic lamina|Bowman's anterior elastic lamina|Reichert's membrane|anterior limiting lamina of cornea http://purl.obolibrary.org/obo/UBERON_0004370 vertebrate_core|pheno_slim CHEBI:35942 biolink:ChemicalSubstance neurotransmitter agent A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function. hp.json neurotransmitter agents http://purl.obolibrary.org/obo/CHEBI_35942 3_STAR CHEBI:60911 biolink:ChemicalSubstance racemate A racemate is an equimolar mixture of a pair of enantiomers. hp.json melange racemique|racemates|racemic mixture http://purl.obolibrary.org/obo/CHEBI_60911 3_STAR HP:0004448 biolink:PhenotypicFeature Fulminant hepatic failure Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver. MSH:D017114|SNOMEDCT_US:197270009|SNOMEDCT_US:235884008|UMLS:C0162557 hp.json http://purl.obolibrary.org/obo/HP_0004448 HP:0004447 biolink:PhenotypicFeature Poikilocytosis The presence of abnormally shaped erythrocytes. SNOMEDCT_US:165479004|UMLS:C0221281 hp.json http://purl.obolibrary.org/obo/HP_0004447 CHEBI:23966 biolink:ChemicalSubstance estrane Beilstein:3125721|LIPID_MAPS_instance:LMST02010000 hp.json Oestran|oestrane|estrane http://purl.obolibrary.org/obo/CHEBI_23966 3_STAR HP:0004442 biolink:PhenotypicFeature Sagittal craniosynostosis A kind of craniosynostosis affecting the sagittal suture. SNOMEDCT_US:109418001|UMLS:C0432123 hp.json Craniosynostosis, sagittal suture|Craniosynostosis, sagittal|Early closure of midline skull joint|Sagittal suture synostosis|Midline skull joint closes early http://purl.obolibrary.org/obo/HP_0004442 hposlim_core UBERON:0004378 biolink:AnatomicalEntity proximal metaphysis A metaphysis that is in the proximal side of a diaphysis. FMA:32823 hp.json proximal diaphyseal end of long bone http://purl.obolibrary.org/obo/UBERON_0004378 UBERON:0004379 biolink:AnatomicalEntity distal epiphysis An epiphysis that is on the distal side of the bone. FMA:32822 hp.json distal end of long bone http://purl.obolibrary.org/obo/UBERON_0004379 HP:0004440 biolink:PhenotypicFeature Coronal craniosynostosis Premature closure of the coronal suture of skull. UMLS:C1856266 hp.json Coronal suture craniosynostosis|Coronal suture synostosis|Craniosynostosis of coronal suture http://purl.obolibrary.org/obo/HP_0004440 hposlim_core UBERON:0004377 biolink:AnatomicalEntity distal metaphysis A metaphysis that is in the distal side of a diaphysis. FMA:32824 hp.json distal diaphyseal end of long bone http://purl.obolibrary.org/obo/UBERON_0004377 HP:0004419 biolink:PhenotypicFeature Recurrent thrombophlebitis Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). UMLS:C3550150 hp.json Recurrent thrombosis|Recurrent phlebitis http://purl.obolibrary.org/obo/HP_0004419 CHEBI:35915 biolink:ChemicalSubstance sterol ester A steroid ester obtained by formal condensation of the carboxy group of any carboxylic acid with the 3-hydroxy group of a sterol. KEGG:C01958 hp.json a sterol ester|3-hydroxysteroid esters|Steryl ester|Sterol ester|3-hydroxysteroid ester http://purl.obolibrary.org/obo/CHEBI_35915 3_STAR HP:0004418 biolink:PhenotypicFeature Thrombophlebitis Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). MSH:D013924|SNOMEDCT_US:64156001|UMLS:C0040046 hp.json http://purl.obolibrary.org/obo/HP_0004418 UBERON:0004363 biolink:AnatomicalEntity pharyngeal arch artery One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]. TAO:0005004|Wikipedia:Aortic_arches|EHDAA2:0000186|EFO:0003695|UMLS:C0003489|VHOG:0000122|AAO:0010414|EMAPA:16684|XAO:0000341|EHDAA:7327|NCIT:C32123|ZFA:0005004|EHDAA:398 hp.json branchial arch artery|arteriae arcuum pharyngeorum|a. arcuum pharyngeorum|pharyngeal arch artery|aortic arches|aortic arch|pharyngeal arch artery|embryonic aortic arch artery|branchial aortic arches|PAA|arteriae arcuum pharyngeorum|branchial aortic arches|a. arcuum pharyngeorum|aortic arch artery|pharyngeal arch arteries http://purl.obolibrary.org/obo/UBERON_0004363 pheno_slim|efo_slim|uberon_slim|vertebrate_core HP:0004411 biolink:PhenotypicFeature Deviated nasal septum Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. UMLS:C0549397|SNOMEDCT_US:126660000 hp.json Deviated nasal septum|Crooked nasal septum|Deviated septum of nose|Crooked septum of nose http://purl.obolibrary.org/obo/HP_0004411 hposlim_core UBERON:0004362 biolink:AnatomicalEntity pharyngeal arch 1 The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries. TAO:0001595|EHDAA:573|AAO:0010364|NCIT:C34175|UMLS:C1517197|EMAPA:16118|ZFA:0001612|SCTID:308767008|VHOG:0000296|CALOHA:TS-2089|MFMO:0000095|EHDAA2:0000006|Wikipedia:First_pharyngeal_arch|FMA:293019|XAO:0000097 hp.json arcus pharyngeus primus|branchial arch 1|1st arch|first branchial arch|1st pharyngeal arch|first pharyngeal arch|arcus pharyngeus primus|visceral arch 1|1st visceral arch|mandibular arch|first visceral arch http://purl.obolibrary.org/obo/UBERON_0004362 pheno_slim|uberon_slim|vertebrate_core HP:0004417 biolink:PhenotypicFeature Intermittent claudication Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. MSH:D007383|UMLS:C0021775|SNOMEDCT_US:63491006 hp.json http://purl.obolibrary.org/obo/HP_0004417 HP:0004416 biolink:PhenotypicFeature Precocious atherosclerosis UMLS:C4021654|UMLS:C4280264 hp.json Premature atherosclerosis|Premature plaque build-up in arteries http://purl.obolibrary.org/obo/HP_0004416 HP:0004415 biolink:PhenotypicFeature Pulmonary artery stenosis An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. UMLS:C0238397|SNOMEDCT_US:95441000|MSH:D000071079|Fyler:1622 hp.json Narrowing of lung artery http://purl.obolibrary.org/obo/HP_0004415 CHEBI:35910 biolink:ChemicalSubstance 2-oxo monocarboxylic acid Any monocarboxylic acid having a 2-oxo substituent. KEGG:C00161 hp.json 2-Oxo acid|2-Oxocarboxylate|2-oxo monocarboxylic acids|2-oxo acid|2-oxo carboxylic acids http://purl.obolibrary.org/obo/CHEBI_35910 3_STAR HP:0004414 biolink:PhenotypicFeature Abnormality of the pulmonary artery An abnormality of the pulmonary artery. SNOMEDCT_US:128588008|SNOMEDCT_US:198914002|UMLS:C0009681|SNOMEDCT_US:36110001 hp.json Abnormality of lung artery http://purl.obolibrary.org/obo/HP_0004414 CHEBI:60924 biolink:ChemicalSubstance keratan sulfate A sulfated glycosaminoglycan, a linear polymer that consists of the repeating disaccharide [3)-beta-Gal-(1->4)-beta-GlcNAc-(1->] and containing sulfo groups located at random positions. hp.json keratosulfate|keratan sulfates http://purl.obolibrary.org/obo/CHEBI_60924 3_STAR UBERON:0004367 biolink:AnatomicalEntity Descemet's membrane A transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea[MP]. MESH:D003886|FMA:58309|TAO:0002157|EMAPA:18804|SCTID:281076002|ZFA:0001686|GAID:894|Wikipedia:Descemet%27s_membrane|MA:0001246|UMLS:C0011665|NCIT:C32454 hp.json Descemet membrane|lamina limitans posterior corneae|Descemet's posterior elastic lamina|posterior limiting lamina of cornea|posterior limiting lamina|lamina limitans posterior|posterior limiting membrane http://purl.obolibrary.org/obo/UBERON_0004367 pheno_slim|vertebrate_core UBERON:0004368 biolink:AnatomicalEntity Reichert's cartilage A continuous cartilaginous formation in mesenchyme of the second pharyngeal arch in the embryo. The longer cranial or styloid segment is continuous with the otic capsule; its inferior end is angulated and is situated very close to the oropharynx. The smaller caudal segment is in contact with the body and greater horn of the hyoid cartilaginous structure. FMA:295800|EHDAA2:0000793|EMAPA:17622 hp.json second branchial arch cartilage|hyaloid cartilage|Reichert cartilage|hyoid cartilage|second pharyngeal arch cartilage http://purl.obolibrary.org/obo/UBERON_0004368 pheno_slim UBERON:0004365 biolink:AnatomicalEntity vitelline blood vessel Blood vessel that is connected to the yolk sac. EMAPA:36494 hp.json http://purl.obolibrary.org/obo/UBERON_0004365 pheno_slim CHEBI:47909 biolink:ChemicalSubstance 3-oxo-Delta(4) steroid A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position. KEGG:C00619|MetaCyc:3-Oxo-Delta-4-Steroids hp.json 3-oxo-Delta(4) steroids|3-oxo Delta(4)-steroids|3-oxo Delta(4)-steroid|a 3-oxo-Delta(4)-steroid|3-Oxo-delta4-steroid http://purl.obolibrary.org/obo/CHEBI_47909 3_STAR HGNC:5389 biolink:Gene IDS (human) A protein coding gene IDS in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5389 HP:0004429 biolink:PhenotypicFeature Recurrent viral infections Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection. UMLS:C1837066 hp.json http://purl.obolibrary.org/obo/HP_0004429 HP:0004423 biolink:PhenotypicFeature Cranium bifidum occultum Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures.1, 2, 3 Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain.1, 4, 5 Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge. UMLS:C1868598|MSH:C566826|SNOMEDCT_US:718099006 hp.json http://purl.obolibrary.org/obo/HP_0004423 UBERON:0004353 biolink:AnatomicalEntity female inguinal canal An inguinal canal that is part of a female organism. Conveys the round ligament + the ilioinguinal nerve.[WP,unvetted]. EMAPA:19171|MA:0003249 hp.json inguinal canal of female http://purl.obolibrary.org/obo/UBERON_0004353 pheno_slim HP:0004422 biolink:PhenotypicFeature Biparietal narrowing A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). UMLS:C1854418|UMLS:C4280532 hp.json Decreased width of the skull http://purl.obolibrary.org/obo/HP_0004422 HP:0004421 biolink:PhenotypicFeature Elevated systolic blood pressure Abnormal increase in systolic blood pressure. UMLS:C1840374 hp.json Elevated systolic BP http://purl.obolibrary.org/obo/HP_0004421 HP:0004428 biolink:PhenotypicFeature Elfin facies This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. UMLS:C0332606|SNOMEDCT_US:69288002 hp.json Elf-like facial appearance|Elf-like facial features|Leprechaun facies http://purl.obolibrary.org/obo/HP_0004428 hposlim_core HP:0004426 biolink:PhenotypicFeature Abnormal cheek morphology An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface UMLS:C4025324 hp.json Anomaly of the cheeks|Abnormality of the cheek|Deformity of the cheeks|Malformation of the cheeks|Abnormality of the cheeks http://purl.obolibrary.org/obo/HP_0004426 HP:0004425 biolink:PhenotypicFeature Flat forehead A forehead with abnormal flatness. UMLS:C1857485 hp.json Frontal flattening|Flattened forehead|Flat forehead http://purl.obolibrary.org/obo/HP_0004425 UBERON:0004356 biolink:AnatomicalEntity apical ectodermal ridge Multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. TAO:0002146|XAO:0004121|EMAPA:32744|AAO:0010760|Wikipedia:Apical_ectodermal_ridge|ZFA:0001702|UMLS:C1516037|NCIT:C34109 hp.json crista ectodermalis apicalis|crista ectodermalis apicalis|AER|apical epidermal ridge http://purl.obolibrary.org/obo/UBERON_0004356 pheno_slim HP:0004420 biolink:PhenotypicFeature Arterial thrombosis The formation of a blood clot inside an artery. SNOMEDCT_US:65198009|UMLS:C0151942 hp.json Blood clot in artery http://purl.obolibrary.org/obo/HP_0004420 UBERON:0004357 biolink:AnatomicalEntity paired limb/fin bud An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. VHOG:0001258 hp.json limb - fin bud|paired limb/fin bud|paired appendage bud http://purl.obolibrary.org/obo/UBERON_0004357 homology_grouping UBERON:0004354 biolink:AnatomicalEntity male inguinal canal An inguinal canal that is part of a male organism. Conveys the spermatic cord and its coverings + the ilioinguinal nerve.[WP,unvetted]. MA:0003256|EMAPA:26913 hp.json inguinal canal of male http://purl.obolibrary.org/obo/UBERON_0004354 pheno_slim HP:0004478 biolink:PhenotypicFeature Ethmoidal encephalocele UMLS:C1843495 hp.json http://purl.obolibrary.org/obo/HP_0004478 HP:0004476 biolink:PhenotypicFeature Aplasia cutis congenita over parietal area A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. UMLS:C1863492 hp.json Absent cutis congenita over parietal area http://purl.obolibrary.org/obo/HP_0004476 HP:0004471 biolink:PhenotypicFeature Aplasia cutis congenita over the scalp vertex A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. UMLS:C1970112 hp.json Aplasia cutis congenita of vertex|Absent cutis congenita of vertex http://purl.obolibrary.org/obo/HP_0004471 HP:0004470 biolink:PhenotypicFeature Atretic occipital cephalocele A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues. UMLS:C1836600 hp.json http://purl.obolibrary.org/obo/HP_0004470 CHEBI:60948 biolink:ChemicalSubstance alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-D-Glc A linear trisaccharide comprising D-glucose (at the reducing end) having an alpha-D-galactosyl-(1->4)-beta-D-galactosyl moiety at the 4-position. PMID:16133831|KEGG:G03416|PMID:17991151|PMID:2292729|GlyTouCan:G06000DZ|Reaxys:5386141|PMID:12020649|CAS:80446-87-3|PMID:2456994|PMID:9538266|GlyGen:G06000DZ hp.json (Gal)2 (Glc)1|WURCS=2.0/3,3,2/[a2122h-1x_1-5][a2112h-1b_1-5][a2112h-1a_1-5]/1-2-3/a4-b1_b4-c1|Galalpha1,4Gal-beta1,4Glc|Galalpha1-4Gal-beta1-4Glc|Pk|Galalpha1-4Gal-beta1-4Glc~OH|4-O-(4-O-alpha-D-galactopyranosyl-beta-D-galactopyranosyl)-D-glucopyranose|4'-galactosyllactose|alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-D-Glcp|Gal-alpha1,4Gal-beta1,4-Glc|alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-D-glucose|Gal-alpha-1,4-Gal-beta-1,4-Glc|alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-D-glucopyranose http://purl.obolibrary.org/obo/CHEBI_60948 3_STAR HP:0004474 biolink:PhenotypicFeature Persistent open anterior fontanelle The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. UMLS:C1849537 hp.json Front fontanelle stays open|Anterior fontanelle open in adults|Persistent, open anterior fontanel http://purl.obolibrary.org/obo/HP_0004474 HP:0004472 biolink:PhenotypicFeature Mandibular hyperostosis Hyperostosis (bony overgrowth) of the mandible. UMLS:C4280523|UMLS:C4280522|UMLS:C4280521|UMLS:C4025321 hp.json Hyperostosis of mandibular bone|Increased ossification of mandible|Thick mandibular bone|Overgrowth of mandibular bone|Thick lower jaw bone|Hyperostosis of lower jaw|Increased ossification of lower jaw|Increased ossification of mandibular bone|Excessive growth of mandibular bone http://purl.obolibrary.org/obo/HP_0004472 NBO:0000308 biolink:NamedThing sensation behavior "Cognitive perception of a sensation by any of the five senses -- vision, touch, smell, taste, and hearing." [NBO:GVG] hp.json behavior involving perception|perception behavior http://purl.obolibrary.org/obo/NBO_0000308 UBERON:0016398 biolink:AnatomicalEntity lymph node of lower limb A lymph node that is part of a hindlimb. FMA:44310 hp.json http://purl.obolibrary.org/obo/UBERON_0016398 NBO:0000304 biolink:NamedThing memory loss behavior "Behavior related with the gradual loss of information and experiences stored in the memory of an organism." [NBO:GVG] hp.json forgetting http://purl.obolibrary.org/obo/NBO_0000304 CHEBI:35902 biolink:ChemicalSubstance oxo monocarboxylic acid anion hp.json oxo monocarboxylic acid anions http://purl.obolibrary.org/obo/CHEBI_35902 3_STAR CHEBI:35903 biolink:ChemicalSubstance oxo carboxylic acid anion Any carboxylic acid anion containing at least one oxo group. hp.json oxo carboxylic acid anions http://purl.obolibrary.org/obo/CHEBI_35903 3_STAR UBERON:0016399 biolink:AnatomicalEntity lymph node of upper limb A lymph node that is part of a forelimb. FMA:44311 hp.json http://purl.obolibrary.org/obo/UBERON_0016399 CHEBI:35907 biolink:ChemicalSubstance glutarate(1-) A dicarboxylic acid monoanion that is the conjugate base of glutaric acid. Beilstein:3904478|Reaxys:3904478|Gmelin:326031 hp.json hydrogen glutarate|4-carboxybutanoate http://purl.obolibrary.org/obo/CHEBI_35907 3_STAR CHEBI:5931 biolink:ChemicalSubstance insulin (human) An insulin that is produced in the pancreas and involved in regulating the metabolism of carbohydrates (particularly glucose) and fats. Commonly thought of as a protein, it consists of two peptide chains, one containing 21 amino acid residues and the other containing 30; the chains are joined together by 2 disulfide bonds. Recombinant insulin is identical to human insulin, but is synthesised by inserting the human insulin gene into E. coli, which then produces insulin for human use. It is used in the treatment of type I and type II diabetes. PMID:32208558|PMID:32398693|KEGG:C00723|PMID:22715632|PMID:31876563|PMID:31821343|PMID:31301295|DrugBank:DB00030|PMID:32797824|PMID:32629793|PMID:22843207|PMID:8019699|PMID:22617471|PMID:22249812|CAS:11061-68-0|KEGG:D00085 hp.json Insulin recombinant|insuline humaine|Insulin|insulin human|insulinum humanum|insulin (recombinant)|Exubera|human insulin|insulina humana http://purl.obolibrary.org/obo/CHEBI_5931 3_STAR HP:0004488 biolink:PhenotypicFeature Macrocephaly at birth The presence of an abnormally large skull with onset at birth. UMLS:C1836599 hp.json Big skull present since birth|Large skull present at birth|Congenital large skull|Large head present since birth|Congenital macrocephaly|Large skull present since birth|Big cranium present since birth|Big head present at birth|Head circumference large for gestational age|Big skull present at birth|Large cranium present at birth|Big head present since birth|Large head present at birth|Congenital large cranium|Large cranium present since birth|Congenital large head|Big cranium present at birth http://purl.obolibrary.org/obo/HP_0004488 hposlim_core HP:0004487 biolink:PhenotypicFeature Acrobrachycephaly An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. UMLS:C1863395|SNOMEDCT_US:711039004 hp.json http://purl.obolibrary.org/obo/HP_0004487 HP:0004482 biolink:PhenotypicFeature Relative macrocephaly A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. SNOMEDCT_US:3961000119101|UMLS:C1849075 hp.json Macrocephaly, relative|Relatively large head|Disproportionately large head http://purl.obolibrary.org/obo/HP_0004482 CHEBI:23924 biolink:ChemicalSubstance enzyme inhibitor A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. hp.json inhibidores enzimaticos|enzyme inhibitor|inhibiteur enzymatique|inhibiteurs enzymatiques|enzyme inhibitors|inhibidor enzimatico http://purl.obolibrary.org/obo/CHEBI_23924 3_STAR HP:0004481 biolink:PhenotypicFeature Progressive macrocephaly The progressive development of an abnormally large skull. UMLS:C1859896 hp.json Progressively abnormally enlarging skull|Macrocephaly, progressive|Progressively abnormally enlarging cranium http://purl.obolibrary.org/obo/HP_0004481 HP:0004485 biolink:PhenotypicFeature Cessation of head growth Stagnation of head growth seen as flattening of the head circumference curve. UMLS:C4025319 hp.json Skull stopped growing|Head stopped growing|Cranium stopped growing http://purl.obolibrary.org/obo/HP_0004485 HP:0004484 biolink:PhenotypicFeature Craniofacial asymmetry Asymmetry of the bones of the skull and the face. UMLS:C4025320 hp.json Malformation of craniofacial shape|Abnormality of craniofacial shape|Uneven craniofacial structures http://purl.obolibrary.org/obo/HP_0004484 HP:0004454 biolink:PhenotypicFeature Abnormal middle ear reflexes UMLS:C1970887 hp.json http://purl.obolibrary.org/obo/HP_0004454 HP:0004459 biolink:PhenotypicFeature Exostosis of the external auditory canal A benign bony growth projecting outward from a bone surface within the external auditory canal. UMLS:C0155411|SNOMEDCT_US:19560007 hp.json External auditory canal exostoses http://purl.obolibrary.org/obo/HP_0004459 HP:0004458 biolink:PhenotypicFeature Dilatated internal auditory canal The presence of a dilated inner part of external acoustic meatus. UMLS:C2676973 hp.json Bulbous internal auditory canal|Enlarged internal auditory canal http://purl.obolibrary.org/obo/HP_0004458 HP:0004453 biolink:PhenotypicFeature Overfolding of the superior helices A condition in which the superior portion of the helix is folded over to a greater degree than normal. UMLS:C1865304 hp.json Overfolding of superior helix http://purl.obolibrary.org/obo/HP_0004453 HP:0004452 biolink:PhenotypicFeature Abnormality of the middle ear ossicles An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). UMLS:C1836678 hp.json Ossicular malformation|Malformed ossicles http://purl.obolibrary.org/obo/HP_0004452 hposlim_core HP:0004451 biolink:PhenotypicFeature Postauricular skin tag A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). UMLS:C4025323 hp.json Postauricular acrochordon|Postauricular fibroepithelial polyp|Skin tag behind the ear http://purl.obolibrary.org/obo/HP_0004451 HP:0004450 biolink:PhenotypicFeature Preauricular skin furrow A groove of the skin immediately in front of the ear. UMLS:C1852411 hp.json Preauricular skin furrows|Skin groove in front of the ear|Skin sulcus in front of the ear|Preauricular skin groove|Preauricular skin sulcus http://purl.obolibrary.org/obo/HP_0004450 HP:0004468 biolink:PhenotypicFeature Anomalous tracheal cartilage An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue). UMLS:C1863406 hp.json Abnormal tracheal cartilaginous ring http://purl.obolibrary.org/obo/HP_0004468 UBERON:0004396 biolink:AnatomicalEntity epiphysis of second metatarsal bone An epiphysis that is part of a metatarsal bone of digit 2 [Automatically generated definition]. FMA:33816 hp.json metatarsal 2 epiphysis|second metatarsal bone epiphysis http://purl.obolibrary.org/obo/UBERON_0004396 HP:0004467 biolink:PhenotypicFeature Preauricular pit Small indentation anterior to the insertion of the ear. UMLS:C0546969|MSH:C563015|UMLS:C0266610|SNOMEDCT_US:204272007|SNOMEDCT_US:1955003|SNOMEDCT_US:204271000|UMLS:C0266625 hp.json Preauricular pits|Preauricular earpits|Ear pit|Preauricular sinus|Pit in front of the ear|Preauricular fistulas http://purl.obolibrary.org/obo/HP_0004467 UBERON:0004397 biolink:AnatomicalEntity epiphysis of third metatarsal bone An epiphysis that is part of a metatarsal bone of digit 3 [Automatically generated definition]. FMA:86313 hp.json third metatarsal bone epiphysis|metatarsal 3 epiphysis http://purl.obolibrary.org/obo/UBERON_0004397 HP:0004466 biolink:PhenotypicFeature Prolonged brainstem auditory evoked potentials UMLS:C4025322 hp.json http://purl.obolibrary.org/obo/HP_0004466 UBERON:0004394 biolink:AnatomicalEntity epiphysis of fourth metacarpal bone An epiphysis that is part of a metacarpal bone of digit 4 [Automatically generated definition]. FMA:86329 hp.json fourth metacarpal bone epiphysis|metacarpal 4 epiphysis http://purl.obolibrary.org/obo/UBERON_0004394 UBERON:0004395 biolink:AnatomicalEntity epiphysis of first metatarsal bone An epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition]. FMA:33815 hp.json metatarsal 1 epiphysis|first metatarsal bone epiphysis http://purl.obolibrary.org/obo/UBERON_0004395 pheno_slim UBERON:0004392 biolink:AnatomicalEntity epiphysis of second metacarpal bone An epiphysis that is part of a metacarpal bone of digit 2 [Automatically generated definition]. FMA:33794 hp.json metacarpal 2 epiphysis|second metacarpal bone epiphysis http://purl.obolibrary.org/obo/UBERON_0004392 UBERON:0004393 biolink:AnatomicalEntity epiphysis of third metacarpal bone An epiphysis that is part of a metacarpal bone of digit 3 [Automatically generated definition]. FMA:86328 hp.json third metacarpal bone epiphysis|metacarpal 3 epiphysis http://purl.obolibrary.org/obo/UBERON_0004393 UBERON:0004390 biolink:AnatomicalEntity epiphysis of metacarpal bone An epiphysis that is part of a metacarpal bone [Automatically generated definition]. FMA:33792 hp.json epiphysis of metacarpal|metacarpal epiphysis|metacarpal bone epiphysis http://purl.obolibrary.org/obo/UBERON_0004390 pheno_slim UBERON:0004391 biolink:AnatomicalEntity epiphysis of first metacarpal bone An epiphysis that is part of a metacarpal bone of digit 1 [Automatically generated definition]. FMA:33793 hp.json first metacarpal bone epiphysis|metacarpal 1 epiphysis http://purl.obolibrary.org/obo/UBERON_0004391 pheno_slim HP:0004469 biolink:PhenotypicFeature Chronic bronchitis Chronic inflammation of the bronchi. SNOMEDCT_US:63480004|UMLS:C0008677|MSH:D029481 hp.json http://purl.obolibrary.org/obo/HP_0004469 HP:0004464 biolink:PhenotypicFeature Postauricular pit Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. UMLS:C0395905|SNOMEDCT_US:43887004 hp.json Posterior auricular pit|Postauricular earpits|Postauricular fistula|Posterior auricular sinus|Pit behind the ear http://purl.obolibrary.org/obo/HP_0004464 hposlim_core CHEBI:23906 biolink:ChemicalSubstance monoatomic cation hp.json monoatomic cations http://purl.obolibrary.org/obo/CHEBI_23906 3_STAR HP:0004463 biolink:PhenotypicFeature Absent brainstem auditory responses Lack of measurable response to stimulation of auditory evoked potentials. UMLS:C1836742 hp.json No auditory brainstem response http://purl.obolibrary.org/obo/HP_0004463 UBERON:0004398 biolink:AnatomicalEntity epiphysis of fourth metatarsal bone An epiphysis that is part of a metatarsal bone of digit 4 [Automatically generated definition]. FMA:86314 hp.json fourth metatarsal bone epiphysis|metatarsal 4 epiphysis http://purl.obolibrary.org/obo/UBERON_0004398 CHEBI:23905 biolink:ChemicalSubstance monoatomic anion hp.json monoatomic anions http://purl.obolibrary.org/obo/CHEBI_23905 3_STAR UBERON:0004399 biolink:AnatomicalEntity epiphysis of fifth metatarsal bone An epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition]. FMA:86315 hp.json fifth metatarsal bone epiphysis|metatarsal 5 epiphysis http://purl.obolibrary.org/obo/UBERON_0004399 HP:0004461 biolink:PhenotypicFeature Congenital earlobe sinuses Pits in the earlobes at the location where ears are typically pierced for earrings. UMLS:C1969394 hp.json http://purl.obolibrary.org/obo/HP_0004461 PATO:0002269 biolink:NamedThing accumulation A structural quality of the collection or massing of one physical object within another physical object. hp.json pooled http://purl.obolibrary.org/obo/PATO_0002269 scalar_slim|relational_slim|attribute_slim UBERON:0006960 biolink:AnatomicalEntity ovary stroma The stroma of the ovary is a peculiar soft tissue, abundantly supplied with blood vessels, consisting for the most part of spindle-shaped cells with a small amount of ordinary connective tissue. These cells have been regarded by some anatomists as unstriped muscle cells, which, indeed, they most resemble; by others as connective-tissue cells. On the surface of the organ this tissue is much condensed, and forms a layer composed of short connective-tissue fibers, with fusiform cells between them. The stroma of the ovary may contain interstitial cells resembling those of the testis. CALOHA:TS-1246|UMLS:C0737271|EMAPA:28880|MA:0002991|SCTID:259306002|FMA:18626|Wikipedia:Stroma_of_ovary|NCIT:C33638 hp.json stroma ovarii|stroma ovarica|interstitial tissue of ovary|ovary stroma|stroma ovarii|stroma of the ovary|stroma of the ovary|ovarian stroma http://purl.obolibrary.org/obo/UBERON_0006960 CHEBI:33356 biolink:ChemicalSubstance iron group element atom hp.json iron group elements|iron group element|group 8 elements http://purl.obolibrary.org/obo/CHEBI_33356 3_STAR PATO:0002265 biolink:NamedThing behavioural activity A behavioral quality of a process inhering in a bearer by virtue of the bearer's disposition to exhibit marked activity. hp.json http://purl.obolibrary.org/obo/PATO_0002265 scalar_slim|disposition_slim|attribute_slim CHEBI:33358 biolink:ChemicalSubstance cobalt group element atom hp.json group 9 elements|cobalt group element|cobalt group elements http://purl.obolibrary.org/obo/CHEBI_33358 3_STAR PATO:0002266 biolink:NamedThing 3-D shape A shape that inheres in a 3 dimensional entity. hp.json http://purl.obolibrary.org/obo/PATO_0002266 UBERON:0006966 biolink:AnatomicalEntity coronary capillary A capillary that is part of the coronary system. ZFA:0005813 hp.json heart capillary http://purl.obolibrary.org/obo/UBERON_0006966 UBERON:0006965 biolink:AnatomicalEntity vascular cord The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. TAO:0005077|EFO:0003709|ZFA:0005077 hp.json http://purl.obolibrary.org/obo/UBERON_0006965 efo_slim GO:0019730 biolink:BiologicalProcess antimicrobial humoral response An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus. hp.json http://purl.obolibrary.org/obo/GO_0019730 UBERON:0004301 biolink:AnatomicalEntity middle phalanx A phalanx located between proximal and distal phalanges. EMAPA:35572|AAO:0010677|MA:0002915 hp.json penultimate phalanx|phalanx II|intermediate phalanx|medial phalanx|phalanx 2 http://purl.obolibrary.org/obo/UBERON_0004301 UBERON:0004302 biolink:AnatomicalEntity proximal phalanx Proximal-most phalanx within a digit. EMAPA:35716|MA:0002916|AAO:0010680 hp.json phalanx I|proximal-most phalanx|phalanx 1 http://purl.obolibrary.org/obo/UBERON_0004302 UBERON:0004300 biolink:AnatomicalEntity distal phalanx Distal-most phalanx within a digit. EMAPA:35287|AAO:0010676|MA:0002914 hp.json phalanx distalis|terminal phalanx|phalanx distalis|ungual phalanx http://purl.obolibrary.org/obo/UBERON_0004300 pheno_slim UBERON:0006948 biolink:AnatomicalEntity efferent duct epithelium An epithelium that is part of a efferent duct. FMA:19195|EMAPA:29747|MA:0001734 hp.json epithelium of efferent ductule of testis http://purl.obolibrary.org/obo/UBERON_0006948 UBERON:0006947 biolink:AnatomicalEntity male genital duct A duct or series of ducts that transports sperm from the gonad. In mammals this is from the seminiferous tubules through rete testis, vas efferentia, epididymis, vas deferens, ejeculatory duct to the urethra. FMA:55678|ZFA:0001268|TAO:0001268 hp.json sperm duct|sperm ducts http://purl.obolibrary.org/obo/UBERON_0006947 grouping_class GO:0005102 biolink:MolecularActivity signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. Wikipedia:Ligand_(biochemistry) hp.json receptor ligand|receptor binding|receptor-associated protein activity http://purl.obolibrary.org/obo/GO_0005102 goslim_plant|goslim_flybase_ribbon|goslim_chembl|goslim_mouse|goslim_agr GO:0042098 biolink:BiologicalProcess T cell proliferation The expansion of a T cell population by cell division. Follows T cell activation. hp.json T-cell proliferation|T lymphocyte proliferation|T-lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0042098 GO:0019748 biolink:BiologicalProcess secondary metabolic process The chemical reactions and pathways resulting in many of the chemical changes of compounds that are not necessarily required for growth and maintenance of cells, and are often unique to a taxon. In multicellular organisms secondary metabolism is generally carried out in specific cell types, and may be useful for the organism as a whole. In unicellular organisms, secondary metabolism is often used for the production of antibiotics or for the utilization and acquisition of unusual nutrients. Wikipedia:Secondary_metabolism hp.json secondary metabolite metabolism|secondary metabolism|secondary metabolite metabolic process http://purl.obolibrary.org/obo/GO_0019748 goslim_pombe|goslim_pir|goslim_plant|goslim_chembl CHEBI:33366 biolink:ChemicalSubstance copper group element atom hp.json coinage metals|group 11 elements|copper group element|copper group elements http://purl.obolibrary.org/obo/CHEBI_33366 3_STAR GO:0019747 biolink:BiologicalProcess regulation of isoprenoid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids. hp.json regulation of isoprenoid metabolism http://purl.obolibrary.org/obo/GO_0019747 UBERON:0006957 biolink:AnatomicalEntity submandibular gland primordium epithelium An epithelium that is part of a submandibular gland primordium. EHDAA:9257|EMAPA:17756|EHDAA2:0001940 hp.json submaxillary gland primordium epithelium http://purl.obolibrary.org/obo/UBERON_0006957 UBERON:0006956 biolink:AnatomicalEntity buccal mucosa The inner lining of the cheeks and lips. CALOHA:TS-2349|NCIT:C12505|FMA:59785|UMLS:C1578559|BTO:0003833 hp.json http://purl.obolibrary.org/obo/UBERON_0006956 pheno_slim UBERON:0006955 biolink:AnatomicalEntity uterine epithelium An epithelium that is part of a uterus. BTO:0003082 hp.json uterus epithelium http://purl.obolibrary.org/obo/UBERON_0006955 PATO:0002270 biolink:NamedThing increased accumulation An increased number of physical objects that are accumulated within another physical object usually as a result of a failure to break down or remove objects in a timely manner. hp.json accumulated http://purl.obolibrary.org/obo/PATO_0002270 relational_slim|value_slim UBERON:0006953 biolink:AnatomicalEntity ejaculatory duct epithelium The ejaculatory duct epithelium is composed of cuboidal to columnar cells between or through which project the terminal parts of the ducts of the unicellular prostate glands. EMAPA:29786|BTO:0002618 hp.json http://purl.obolibrary.org/obo/UBERON_0006953 UBERON:0006938 biolink:AnatomicalEntity pinna surface epithelium An epithelium that is part of a pinna. EMAPA:17592|VHOG:0000632|EHDAA:8983|EHDAA2:0001470 hp.json http://purl.obolibrary.org/obo/UBERON_0006938 UBERON:0006937 biolink:AnatomicalEntity inner ear epithelium The epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals. EMAPA:32883|MA:0001189 hp.json http://purl.obolibrary.org/obo/UBERON_0006937 pheno_slim UBERON:0006936 biolink:AnatomicalEntity thymus subcapsular epithelium The epithelial cells lining the capsule and trabeculae of the thymus. MA:0000769 hp.json http://purl.obolibrary.org/obo/UBERON_0006936 pheno_slim|human_reference_atlas PATO:0002283 biolink:NamedThing decreased mobility A mobility which is relative low. hp.json http://purl.obolibrary.org/obo/PATO_0002283 value_slim PATO:0002287 biolink:NamedThing increased elasticity An elasticity which is relatively high. hp.json http://purl.obolibrary.org/obo/PATO_0002287 value_slim PATO:0002288 biolink:NamedThing decreased elasticity An elasticity which is relatively low. hp.json http://purl.obolibrary.org/obo/PATO_0002288 value_slim UBERON:0006946 biolink:AnatomicalEntity efferent duct The efferent ducts (or efferent ductules or ductuli efferentes) connect the rete testis with the initial section of the epididymis. The ductuli are unilaminar and composed of columnar ciliated and non-ciliated (absorptive) cells. The ciliated cells serve to stir the luminal fluids, possibly to help ensure homogeneous absorption of water from the fluid produced by the testis, which results in an increase in the concentration of luminal sperm. The epithelium is surrounded by a band of smooth muscle that helps to propel the sperm toward the epididymis. NCIT:C32492|FMA:19081|EMAPA:18993|MA:0000398|AAO:0010532|UMLS:C0228013 hp.json seminal duct|efferent ductule|ductuli efferentes testis|efferent ductule|vasa efferentia|ductuli efferentes testis http://purl.obolibrary.org/obo/UBERON_0006946 pheno_slim CHEBI:57305 biolink:ChemicalSubstance glycine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of glycine. Gmelin:1807|MetaCyc:GLY hp.json glycine|2-azaniumylacetate http://purl.obolibrary.org/obo/CHEBI_57305 3_STAR PATO:0002281 biolink:NamedThing biscupidate A cuscpidate quality inhering in a bearer by virtue of the bearer possessing two cusps. hp.json bicuspid http://purl.obolibrary.org/obo/PATO_0002281 PATO:0002282 biolink:NamedThing increased mobility A mobility which is relative high. hp.json http://purl.obolibrary.org/obo/PATO_0002282 value_slim UBERON:0006929 biolink:AnatomicalEntity glandular columnar epithelium Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA]. FMA:64800|NCIT:C13182|UMLS:C0225337 hp.json http://purl.obolibrary.org/obo/UBERON_0006929 UBERON:0006925 biolink:AnatomicalEntity digestive system gland Any gland that is part of the digestive system. BTO:0000345|AAO:0000130 hp.json digestive gland http://purl.obolibrary.org/obo/UBERON_0006925 organ_slim PATO:0002297 biolink:NamedThing decreased cellular motility A cellular motility which is lower relative to the normal or average. hp.json http://purl.obolibrary.org/obo/PATO_0002297 value_slim GO:0019725 biolink:BiologicalProcess cellular homeostasis Any process involved in the maintenance of an internal steady state at the level of the cell. hp.json http://purl.obolibrary.org/obo/GO_0019725 goslim_candida|goslim_plant|goslim_aspergillus PATO:0002298 biolink:NamedThing increased cellular motility A cellular motility which is higher relative to the normal or average. hp.json http://purl.obolibrary.org/obo/PATO_0002298 value_slim PATO:0002299 biolink:NamedThing tubular A cylindrical shape that is hollow. hp.json tube like|tube-shaped|tubulate http://purl.obolibrary.org/obo/PATO_0002299 UBERON:0006934 biolink:AnatomicalEntity sensory epithelium Simple columnar epithelium made up of cells specialized to serve as sensory cells for the reception of external stimuli, as the sensory cells of the cochlea, vestibule, nasal mucosa, and tongue. FMA:62410|SCTID:309045006|CALOHA:TS-0682 hp.json neuroepithelium http://purl.obolibrary.org/obo/UBERON_0006934 UBERON:0006932 biolink:AnatomicalEntity vestibular epithelium An epithelium that is part of a vestibular labyrinth. EMAPA:35921|RETIRED_EHDAA2:0000834|EMAPA:32884|FMA:75606|BTO:0005581|MA:0002892 hp.json epithelium of vestibular labyrinth|inner ear vestibular component epithelium|vestibular sensory epithelium http://purl.obolibrary.org/obo/UBERON_0006932 UBERON:0006931 biolink:AnatomicalEntity stomach glandular region mucosa Stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. MA:0001614|EMAPA:27167 hp.json stomach glandular region glandular mucous membrane http://purl.obolibrary.org/obo/UBERON_0006931 UBERON:0006930 biolink:AnatomicalEntity glandular cuboidal epithelium FMA:66809 hp.json http://purl.obolibrary.org/obo/UBERON_0006930 PATO:0002290 biolink:NamedThing aplastic/hypoplastic hp.json http://purl.obolibrary.org/obo/PATO_0002290 CHEBI:33340 biolink:ChemicalSubstance zinc group element atom hp.json zinc group element|group 12 elements|zinc group elements http://purl.obolibrary.org/obo/CHEBI_33340 3_STAR PATO:0002291 biolink:NamedThing agenesis Absence of a tissue or organ due to failure to develop. hp.json http://purl.obolibrary.org/obo/PATO_0002291 CHEBI:33318 biolink:ChemicalSubstance main group element atom An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table. hp.json Hauptgruppenelement|main group element|main group elements|Hauptgruppenelemente http://purl.obolibrary.org/obo/CHEBI_33318 3_STAR PATO:0002226 biolink:NamedThing subcylindrical A cylindrical shape quality inhering in a bearer by virtue of the bearer's being imperfectly cylindrical or approximately cylindrical. hp.json http://purl.obolibrary.org/obo/PATO_0002226 value_slim UBERON:0004341 biolink:AnatomicalEntity primitive streak The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]. NCIT:C28402|EMAPA:16072|MESH:D054240|EHDAA:185|FMA:293110|VHOG:0001202|EHDAA2:0001525|UMLS:C0033153 hp.json primitive streak - blastopore - germ ring http://purl.obolibrary.org/obo/UBERON_0004341 pheno_slim|early_development UBERON:0004340 biolink:AnatomicalEntity allantois A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. NCIT:C34101|MESH:D000482|UMLS:C0002084|BTO:0000474|EMAPA:16107|EMAPA_RETIRED:16084|RETIRED_EHDAA2:0000114|Wikipedia:Allantois|EHDAA2:0001504|VHOG:0000738|SCTID:308825007 hp.json allantoic bud http://purl.obolibrary.org/obo/UBERON_0004340 pheno_slim CHEBI:35972 biolink:ChemicalSubstance dihydroxy monocarboxylic acid Any hydroxy monocarboxylic acid carrying at least two hydroxy groups. hp.json dihydroxy monocarboxylic acids http://purl.obolibrary.org/obo/CHEBI_35972 3_STAR UBERON:0004347 biolink:AnatomicalEntity limb bud An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. GAID:1307|NCIT:C34203|MESH:D018878|AAO:0010375|EMAPA:35944|XAO:0003161|BTO:0001640|FMA:296780|UMLS:C0282505 hp.json limbbud|gemmae membrorum|limb buds http://purl.obolibrary.org/obo/UBERON_0004347 pheno_slim UBERON:0004348 biolink:AnatomicalEntity optic eminence The embryonic structure that gives rise to the corneal ectoderm. EMAPA:16322|VHOG:0001296|RETIRED_EHDAA2:0001308|EHDAA:938 hp.json http://purl.obolibrary.org/obo/UBERON_0004348 pheno_slim UBERON:0004345 biolink:AnatomicalEntity trophectoderm Outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition. EHDAA2:0002091|EMAPA:16046|VHOG:0000979|EHDAA:56|BTO:0001840 hp.json http://purl.obolibrary.org/obo/UBERON_0004345 pheno_slim|early_development UBERON:0004346 biolink:AnatomicalEntity gubernaculum (male or female) Embryonic structures which begin as undifferentiated mesenchyme attaching to the caudal end of the gonads. The gubernaculum is present only during the development of the urinary and reproductive organs, being replaced by distinct vestiges in males and females[WP]. Enitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus[MP]. UMLS:C0228051|NCIT:C82952 hp.json gubernaculae|caudal suspensory ligament|Gabernaculum|gubernaculum http://purl.obolibrary.org/obo/UBERON_0004346 pheno_slim UBERON:0004344 biolink:AnatomicalEntity cardinal vein Any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column. EMAPA:16354|NCIT:C34116|EHDAA2:0000213|EHDAA:1310|XAO:0000052|UMLS:C0231085|AAO:0011022|BTO:0004385|VHOG:0001197 hp.json Cuvierian vein|cardinal vein system|cardinal sinus http://purl.obolibrary.org/obo/UBERON_0004344 pheno_slim UBERON:0004329 biolink:AnatomicalEntity proximal phalanx of manual digit 3 A proximal phalanx that is part of a hand digit 3 [Automatically generated definition]. FMA:23920 hp.json proximal phalanx of manual digit III|hand digit 3 proximal phalanx|third finger proximal phalanx|proximal phalanx of 3rd finger|proximal phalanx of 3rd digit of hand|manual digit 3 proximal phalanx|third proximal phalanx of hand|3rd finger proximal phalanx|manual phalanx III-1|proximal phalanx of third finger|proximal phalanx of third digit of hand|3rd digit of hand proximal phalanx|proximal phalanx of middle finger http://purl.obolibrary.org/obo/UBERON_0004329 pheno_slim HP:0004409 biolink:PhenotypicFeature Hyposmia A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). SNOMEDCT_US:83156004|UMLS:C2364082 hp.json Sense of smell impaired|Decreased smell sensation http://purl.obolibrary.org/obo/HP_0004409 hposlim_core HP:0004408 biolink:PhenotypicFeature Abnormality of the sense of smell An anomaly in the ability to perceive and distinguish scents (odors). UMLS:C4021655 hp.json Abnormality of the sense of smell|Abnormality of olfaction|Abnormal sense of smell|Smell defect http://purl.obolibrary.org/obo/HP_0004408 hposlim_core HP:0004407 biolink:PhenotypicFeature Bony paranasal bossing UMLS:C1857499 hp.json http://purl.obolibrary.org/obo/HP_0004407 UBERON:0004330 biolink:AnatomicalEntity proximal phalanx of manual digit 4 A proximal phalanx that is part of a hand digit 4 [Automatically generated definition]. FMA:23921 hp.json manual digit 4 proximal phalanx|proximal phalanx of 4th finger|proximal phalanx of manual digit IV|fourth proximal phalanx of hand|proximal phalanx of ring finger|4th digit of hand proximal phalanx|manual phalanx IV-1|proximal phalanx of fourth finger|proximal phalanx of fourth digit of hand|fourth finger proximal phalanx|hand digit 4 proximal phalanx|proximal phalanx of 4th digit of hand|4th finger proximal phalanx http://purl.obolibrary.org/obo/UBERON_0004330 pheno_slim HP:0004401 biolink:PhenotypicFeature Meconium ileus Obstruction of the intestine due to abnormally thick meconium. SNOMEDCT_US:233662009|SNOMEDCT_US:86092005|UMLS:C0398349|SNOMEDCT_US:206523001|UMLS:C2939175|UMLS:C3553397 hp.json Meconium ileus on ultrasonography|Distal intestinal obstruction syndrome|Meconium ileus in neonates http://purl.obolibrary.org/obo/HP_0004401 UBERON:0004331 biolink:AnatomicalEntity proximal phalanx of manual digit 5 A proximal phalanx that is part of a hand digit 5 [Automatically generated definition]. FMA:23922 hp.json proximal phalanx of fifth finger|manual digit 5 proximal phalanx|fifth proximal phalanx of hand|proximal phalanx of 5th finger|proximal phalanx of fifth digit of hand|manual phalanx V-1|5th digit of hand proximal phalanx|proximal phalanx of 5th digit of hand|5th finger proximal phalanx|proximal phalanx of manual digit V|proximal phalanx of little finger|hand digit 5 proximal phalanx|fifth finger proximal phalanx http://purl.obolibrary.org/obo/UBERON_0004331 pheno_slim HP:0004400 biolink:PhenotypicFeature Abnormality of the pylorus An abnormality of the pylorus. UMLS:C4025326 hp.json http://purl.obolibrary.org/obo/HP_0004400 HP:0004406 biolink:PhenotypicFeature Spontaneous, recurrent epistaxis UMLS:C3809715 hp.json Recurrent epistaxis|Spontaneous, recurrent nosebleed|Recurring nosebleed|Recurrent epistaxes http://purl.obolibrary.org/obo/HP_0004406 HP:0004405 biolink:PhenotypicFeature Prominent nipples UMLS:C1855513 hp.json Prominent nipples http://purl.obolibrary.org/obo/HP_0004405 hposlim_core HP:0004404 biolink:PhenotypicFeature Abnormal nipple morphology An abnormality of the nipple. SNOMEDCT_US:700153004|UMLS:C3839073 hp.json Abnormality of the nipple http://purl.obolibrary.org/obo/HP_0004404 hposlim_core CHEBI:35987 biolink:ChemicalSubstance diamino acid Any amino acid carrying two amino groups. hp.json http://purl.obolibrary.org/obo/CHEBI_35987 3_STAR HP:0004403 biolink:PhenotypicFeature Proximal esophageal atresia UMLS:C4025325 hp.json http://purl.obolibrary.org/obo/HP_0004403 UBERON:0004338 biolink:AnatomicalEntity proximal phalanx of manual digit 1 A proximal phalanx that is part of a hand digit 1 [Automatically generated definition]. FMA:23918 hp.json manual digit 1 proximal phalanx|manual phalanx I-1|first proximal phalanx of hand|proximal phalanx of first digit of hand|proximal phalanx of thumb|thumb proximal|proximal phalanx of manual digit I http://purl.obolibrary.org/obo/UBERON_0004338 pheno_slim UBERON:0004339 biolink:AnatomicalEntity vault of skull Upper part of skull, consisting of parietals, frontals, post-parietals, and in some species the squamosal and a portion of the alisphenoid. VHOG:0000331|NCIT:C81188|EMAPA:18016|UMLS:C0205950|FMA:52800|EHDAA:9538|EHDAA2:0002167|ZFA:0005606 hp.json calva|skullcap|skull vault|calvaria|skull roof|cranial vault|calvarium http://purl.obolibrary.org/obo/UBERON_0004339 pheno_slim UBERON:0004336 biolink:AnatomicalEntity proximal phalanx of pedal digit 5 A proximal phalanx that is part of a pedal digit 5 [Automatically generated definition]. FMA:32621 hp.json 5th toe proximal phalanx|pedal phalanx V-1|proximal phalanx of pedal digit V|fifth proximal phalanx of foot|proximal phalanx of foot digit 5|proximal phalanx of fifth digit of foot|proximal phalanx of little toe|proximal phalanx of 5th toe|proximal phalanx of the 5th toe|predal digit 5 proximal phalanx|foot digit 5 proximal phalanx|proximal phalanx of fifth toe http://purl.obolibrary.org/obo/UBERON_0004336 pheno_slim UBERON:0004337 biolink:AnatomicalEntity distal phalanx of manual digit 1 A distal phalanx that is part of a hand digit 1 [Automatically generated definition]. FMA:23945 hp.json distal phalanx of first digit of hand|distal phalanx of manual digit I|PDP|first distal phalanx of hand|manual digit 1 distal phalanx|distal phalanx of thumb|thumb distal phalanx|pollical distal phalanx http://purl.obolibrary.org/obo/UBERON_0004337 pheno_slim UBERON:0004334 biolink:AnatomicalEntity proximal phalanx of pedal digit 3 A proximal phalanx that is part of a pedal digit 3 [Automatically generated definition]. FMA:32619 hp.json proximal phalanx of foot digit 3|proximal phalanx of third toe|predal digit 3 proximal phalanx|proximal phalanx of the 3rd toe|proximal phalanx of 3rd toe|foot digit 3 proximal phalanx|third proximal phalanx of foot|3rd toe proximal phalanx|proximal phalanx of third digit of foot|pedal phalanx III-1|proximal phalanx of pedal digit III http://purl.obolibrary.org/obo/UBERON_0004334 pheno_slim UBERON:0004335 biolink:AnatomicalEntity proximal phalanx of pedal digit 4 A proximal phalanx that is part of a pedal digit 4 [Automatically generated definition]. FMA:32620 hp.json 4th toe proximal phalanx|proximal phalanx of pedal digit IV|proximal phalanx of fourth toe|fourth proximal phalanx of foot|proximal phalanx of foot digit 4|proximal phalanx of the 4th toe|proximal phalanx of 4th toe|predal digit 4 proximal phalanx|proximal phalanx of fourth digit of foot|foot digit 4 proximal phalanx|pedal phalanx IV-1 http://purl.obolibrary.org/obo/UBERON_0004335 pheno_slim UBERON:0004332 biolink:AnatomicalEntity proximal phalanx of pedal digit 1 A proximal phalanx that is part of a pedal digit 1 [Automatically generated definition]. FMA:43252 hp.json proximal phalanx of great toe|predal digit 1 proximal phalanx|proximal phalanx of foot digit 1|proximal phalanx of hallux|foot digit 1 proximal phalanx|hallux proximal phalanx|proximal phalanx of the 1st toe|pedal phalanx I-1|proximal phalanx of pedal digit I|proximal phalanx of big toe http://purl.obolibrary.org/obo/UBERON_0004332 pheno_slim UBERON:0004333 biolink:AnatomicalEntity proximal phalanx of pedal digit 2 A proximal phalanx that is part of a pedal digit 2 [Automatically generated definition]. FMA:32618 hp.json proximal phalanx of second toe|predal digit 2 proximal phalanx|proximal phalanx of foot digit 2|second proximal phalanx of foot|proximal phalanx of the 2nd toe|proximal phalanx of 2nd toe|proximal phalanx of second digit of foot|foot digit 2 proximal phalanx|pedal phalanx II-1|proximal phalanx of pedal digit II|2nd toe proximal phalanx http://purl.obolibrary.org/obo/UBERON_0004333 pheno_slim UBERON:0004318 biolink:AnatomicalEntity distal phalanx of pedal digit 4 A distal phalanx that is part of a foot digit 4 [Automatically generated definition]. FMA:32630 hp.json distal phalanx of pedal digit IV|distal phalanx of fourth toe|fourth distal phalanx of foot|distal phalanx of the 4th toe|distal phalanx of foot digit 4|distal phalanx of 4th toe|distal phalanx of fourth digit of foot|foot digit 4 distal phalanx|4th toe distal phalanx http://purl.obolibrary.org/obo/UBERON_0004318 pheno_slim UBERON:0004319 biolink:AnatomicalEntity distal phalanx of pedal digit 5 A distal phalanx that is part of a foot digit 5 [Automatically generated definition]. FMA:32631 hp.json distal phalanx of fifth digit of foot|fifth distal phalanx of foot|distal phalanx of foot digit 5|distal phalanx of the 5th toe|distal phalanx of 5th toe|distal phalanx of little toe|distal phalanx of fifth toe|foot digit 5 distal phalanx|distal phalanx of pedal digit V|5th toe distal phalanx http://purl.obolibrary.org/obo/UBERON_0004319 pheno_slim UBERON:0004320 biolink:AnatomicalEntity middle phalanx of manual digit 2 A middle phalanx that is part of a hand digit 2 [Automatically generated definition]. FMA:23933 hp.json hand digit 2 middle phalanx|middle phalanx of second finger|2nd finger middle phalanx|second finger intermediate phalanx|intermediate phalanx of second finger|intermediate phalanx of 2nd finger|second middle phalanx of hand|second finger middle phalanx|middle phalanx of second digit of hand|intermediate phalanx of hand digit 2|middle phalanx of 2nd finger|middle phalanx of 2nd digit of hand|middle phalanx of index finger|2nd digit of hand intermediate phalanx|hand digit 2 intermediate phalanx|middle phalanx of manual digit II|intermediate phalanx of 2nd digit of hand|2nd finger intermediate phalanx|2nd digit of hand middle phalanx http://purl.obolibrary.org/obo/UBERON_0004320 pheno_slim CHEBI:35950 biolink:ChemicalSubstance 4-oxo monocarboxylic acid hp.json 4-oxo acid|4-oxo monocarboxylic acids http://purl.obolibrary.org/obo/CHEBI_35950 3_STAR UBERON:0004327 biolink:AnatomicalEntity middle phalanx of pedal digit 5 A middle phalanx that is part of a pedal digit 5 [Automatically generated definition]. FMA:230984 hp.json foot digit 5 intermediate phalanx|5th toe intermediate phalanx|middle phalanx of the 5th toe|middle phalanx of 5th toe|foot digit 5 middle phalanx|intermediate phalanx of foot digit 5|5th toe middle phalanx|intermediate phalanx of 5th toe|middle phalanx of foot digit 5|middle phalanx of little toe|middle phalanx of pedal digit V http://purl.obolibrary.org/obo/UBERON_0004327 pheno_slim UBERON:0004328 biolink:AnatomicalEntity proximal phalanx of manual digit 2 A proximal phalanx that is part of a hand digit 2 [Automatically generated definition]. FMA:23919 hp.json proximal phalanx of index finger|proximal phalanx of 2nd digit of hand|2nd finger proximal phalanx|manual digit 2 proximal phalanx|proximal phalanx of manual digit II|second finger proximal phalanx|proximal phalanx of 2nd finger|proximal phalanx of second finger|manual phalanx II-1|second proximal phalanx of hand|proximal phalanx of second digit of hand|2nd digit of hand proximal phalanx|hand digit 2 proximal phalanx http://purl.obolibrary.org/obo/UBERON_0004328 pheno_slim UBERON:0004325 biolink:AnatomicalEntity middle phalanx of pedal digit 3 A middle phalanx that is part of a foot digit 3 [Automatically generated definition]. FMA:32624 hp.json hindlimb short pastern bone|foot digit 3 middle phalanx|3rd toe middle phalanx|middle phalanx of third digit of foot|middle phalanx of the 3rd toe|middle phalanx of 3rd toe|intermediate phalanx of foot digit 3|hindlimb digit III P2|middle phalanx of pedal digit III|intermediate phalanx of 3rd toe|third middle phalanx of foot|middle phalanx of foot digit 3|foot digit 3 intermediate phalanx|middle phalanx of third toe|3rd toe intermediate phalanx http://purl.obolibrary.org/obo/UBERON_0004325 pheno_slim UBERON:0004326 biolink:AnatomicalEntity middle phalanx of pedal digit 4 A middle phalanx that is part of a pedal digit 4 [Automatically generated definition]. FMA:32625 hp.json foot digit 4 intermediate phalanx|fourth middle phalanx of foot|4th toe intermediate phalanx|foot digit 4 middle phalanx|middle phalanx of the 4th toe|middle phalanx of 4th toe|4th toe middle phalanx|middle phalanx of fourth digit of foot|middle phalanx of fourth toe|intermediate phalanx of foot digit 4|middle phalanx of pedal digit IV|intermediate phalanx of 4th toe|middle phalanx of foot digit 4 http://purl.obolibrary.org/obo/UBERON_0004326 pheno_slim UBERON:0004323 biolink:AnatomicalEntity middle phalanx of manual digit 5 A middle phalanx that is part of a hand digit 5 [Automatically generated definition]. FMA:23936 hp.json 5th finger intermediate phalanx|hand digit 5 intermediate phalanx|fifth finger intermediate phalanx|5th digit of hand middle phalanx|middle phalanx of little finger|5th finger middle phalanx|middle phalanx of manual digit V|hand digit 5 middle phalanx|intermediate phalanx of fifth finger|middle phalanx of fifth digit of hand|intermediate phalanx of hand digit 5|fifth finger middle phalanx|intermediate phalanx of 5th finger|middle phalanx of fifth finger|middle phalanx of 5th digit of hand|middle phalanx of 5th finger|intermediate phalanx of 5th digit of hand|fifth middle phalanx of hand|5th digit of hand intermediate phalanx http://purl.obolibrary.org/obo/UBERON_0004323 pheno_slim UBERON:0004324 biolink:AnatomicalEntity middle phalanx of pedal digit 2 A middle phalanx that is part of a foot digit 2 [Automatically generated definition]. FMA:32623 hp.json foot digit 2 middle phalanx|2nd toe intermediate phalanx|middle phalanx of second toe|middle phalanx of the 2nd toe|middle phalanx of 2nd toe|2nd toe middle phalanx|middle phalanx of pedal digit II|second middle phalanx of foot|intermediate phalanx of 2nd toe|middle phalanx of second digit of foot|intermediate phalanx of foot digit 2|foot digit 2 intermediate phalanx|middle phalanx of foot digit 2 http://purl.obolibrary.org/obo/UBERON_0004324 pheno_slim UBERON:0004321 biolink:AnatomicalEntity middle phalanx of manual digit 3 A middle phalanx that is part of a hand digit 3 [Automatically generated definition]. FMA:23934 hp.json intermediate phalanx of 3rd digit of hand|third finger intermediate phalanx|middle phalanx of manual digit III|middle phalanx of middle finger|middle phalanx of third digit of hand|hand digit 3 middle phalanx|intermediate phalanx of 3rd finger|3rd finger intermediate phalanx|forelimb short pastern bone|intermediate phalanx of third finger|third finger middle phalanx|middle phalanx of 3rd finger|intermediate phalanx of hand digit 3|3rd finger middle phalanx|middle phalanx of third finger|3rd digit of hand intermediate phalanx|third middle phalanx of hand|middle phalanx of 3rd digit of hand|forelimb digit III P2|3rd digit of hand middle phalanx|hand digit 3 intermediate phalanx http://purl.obolibrary.org/obo/UBERON_0004321 pheno_slim UBERON:0006984 biolink:AnatomicalEntity anatomical surface A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n. EHDAA2_RETIRED:0003192|NCIT:C34022|FMA:24137|CARO:0001002|BILA:0000010|UMLS:C1515977 hp.json http://purl.obolibrary.org/obo/UBERON_0006984 upper_level UBERON:0004322 biolink:AnatomicalEntity middle phalanx of manual digit 4 A middle phalanx that is part of a hand digit 4 [Automatically generated definition]. FMA:23935 hp.json 4th finger intermediate phalanx|4th digit of hand middle phalanx|middle phalanx of manual digit IV|fourth finger middle phalanx|hand digit 4 middle phalanx|middle phalanx of fourth digit of hand|4th finger middle phalanx|intermediate phalanx of 4th finger|intermediate phalanx of hand digit 4|middle phalanx of fourth finger|middle phalanx of 4th digit of hand|middle phalanx of 4th finger|intermediate phalanx of fourth finger|4th digit of hand intermediate phalanx|intermediate phalanx of 4th digit of hand|middle phalanx of ring finger|fourth finger intermediate phalanx|fourth middle phalanx of hand|hand digit 4 intermediate phalanx http://purl.obolibrary.org/obo/UBERON_0004322 pheno_slim UBERON:0006983 biolink:AnatomicalEntity anatomical point Non-material anatomical entity of zero dimension, which forms a boundary of an anatomical line or surface. EHDAA2:0003009|BILA:0000009|AEO:0000009|CARO:0000009|AAO:0010266|TAO:0001839|FMA:9658 hp.json http://purl.obolibrary.org/obo/UBERON_0006983 upper_level RO:0002180 biolink:NamedThing has component w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. RO:0002180 hp.json http://purl.obolibrary.org/obo/RO_0002180 ro-eco CHEBI:23981 biolink:ChemicalSubstance ethanolamines hp.json ethanolamine http://purl.obolibrary.org/obo/CHEBI_23981 3_STAR CHEBI:33306 biolink:ChemicalSubstance carbon group element atom hp.json group IV elements|carbon group element|group 14 elements|cristallogenes|cristallogene|carbonoides|carbon group elements http://purl.obolibrary.org/obo/CHEBI_33306 3_STAR CHEBI:35969 biolink:ChemicalSubstance 3-hydroxy monocarboxylic acid A hydroxy monocarboxylic acid that has a hydroxy group beta to the carboxy group. hp.json beta-hydroxy acid|beta-hydroxy carboxylic acids|3-hydroxy monocarboxylic acids|3-hydroxy acid|beta-hydroxy carboxylic acid|beta-hydroxy acids http://purl.obolibrary.org/obo/CHEBI_35969 3_STAR CHEBI:33308 biolink:ChemicalSubstance carboxylic ester An ester of a carboxylic acid, R(1)C(=O)OR(2), where R(1) = H or organyl and R(2) = organyl. KEGG:C02391|Wikipedia:Ester hp.json carboxylic acid esters|a carboxylic ester|Carboxylic ester|carboxylic esters http://purl.obolibrary.org/obo/CHEBI_33308 3_STAR CHEBI:33300 biolink:ChemicalSubstance pnictogen Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth. hp.json group 15 elements|group V elements|nitrogenoides|pnictogenes|nitrogenoideos|pnictogene|pnictogens http://purl.obolibrary.org/obo/CHEBI_33300 3_STAR PATO:0002257 biolink:NamedThing multicuspidate A cuscpidate quality inhering in a bearer by virtue of the bearer possessing more than one cusp. hp.json http://purl.obolibrary.org/obo/PATO_0002257 value_slim CHEBI:33302 biolink:ChemicalSubstance pnictogen molecular entity A p-block molecular entity containing any pnictogen. hp.json pnictogen molecular entities|pnictogen molecular entity http://purl.obolibrary.org/obo/CHEBI_33302 3_STAR PATO:0002254 biolink:NamedThing flattened A quality inhering in a bearer by virtue of the bearer's surface becoming more extended in a plane. hp.json compressed http://purl.obolibrary.org/obo/PATO_0002254 value_slim CHEBI:33303 biolink:ChemicalSubstance chalcogen Any p-block element belonging to the group 16 family of the periodic table. PMID:17084588|PMID:17084588 hp.json chalcogen|anfigenos|group VI elements|chalcogenes|group 16 elements|chalcogene|chalcogens|anfigeno|Chalkogen|calcogenos|calcogeno|Chalkogene http://purl.obolibrary.org/obo/CHEBI_33303 3_STAR PATO:0002255 biolink:NamedThing grooved Texture quality inhering in a bearer by virtue of the bearer's being marked with one or more channels. hp.json channeled|creased http://purl.obolibrary.org/obo/PATO_0002255 value_slim CHEBI:33304 biolink:ChemicalSubstance chalcogen molecular entity Any p-block molecular entity containing a chalcogen. hp.json chalcogen molecular entity|chalcogen molecular entities|chalcogen compounds http://purl.obolibrary.org/obo/CHEBI_33304 3_STAR UBERON:0004316 biolink:AnatomicalEntity distal phalanx of pedal digit 2 A distal phalanx that is part of a foot digit 2 [Automatically generated definition]. FMA:32628 hp.json distal phalanx of second toe|distal phalanx of the 2nd toe|distal phalanx of 2nd toe|second distal phalanx of foot|distal phalanx of foot digit 2|distal phalanx of second digit of foot|foot digit 2 distal phalanx|2nd toe distal phalanx|distal phalanx of pedal digit II http://purl.obolibrary.org/obo/UBERON_0004316 pheno_slim UBERON:0004317 biolink:AnatomicalEntity distal phalanx of pedal digit 3 A distal phalanx that is part of a foot digit 3 [Automatically generated definition]. FMA:32629 hp.json distal phalanx of third toe|distal phalanx of foot digit 3|hindlimb medial ungual phalanx of artiodactyl|hindlimb pedal bone|distal phalanx of the 3rd toe|distal phalanx of 3rd toe|third distal phalanx of foot|distal phalanx of third digit of foot|hindlimb medial claw of artiodactyl|foot digit 3 distal phalanx|3rd toe distal phalanx|distal phalanx of pedal digit III|hindlimb coffin bone|equine hindlimb distal phalanx|equine 3rd phalanx of hindlimb digit 3|hindlimb medial claw of ruminant hoof http://purl.obolibrary.org/obo/UBERON_0004317 pheno_slim UBERON:0004314 biolink:AnatomicalEntity distal phalanx of manual digit 5 A distal phalanx that is part of a hand digit 5 [Automatically generated definition]. FMA:23949 hp.json distal phalanx of 5th finger|fifth distal phalanx of hand|distal phalanx of fifth digit of hand|distal phalanx of 5th digit of hand|5th digit of hand distal phalanx|5th finger distal phalanx|hand digit 5 distal phalanx|distal phalanx of manual digit V|fifth finger distal phalanx|distal phalanx of little finger|distal phalanx of fifth finger http://purl.obolibrary.org/obo/UBERON_0004314 pheno_slim UBERON:0004315 biolink:AnatomicalEntity distal phalanx of pedal digit 1 A distal phalanx that is part of a foot digit 1 [Automatically generated definition]. FMA:32627 hp.json distal phalanx of foot digit 1|distal phalanx of hallux|foot digit 1 distal phalanx|hallux distal phalanx|distal phalanx of big toe|distal phalanx of great toe|distal phalanx of pedal digit I|distal phalanx of first digit of foot|first distal phalanx of foot http://purl.obolibrary.org/obo/UBERON_0004315 pheno_slim UBERON:0004312 biolink:AnatomicalEntity distal phalanx of manual digit 3 A distal phalanx that is part of a hand digit 3 [Automatically generated definition]. FMA:23947 hp.json forelimb medial claw of ruminant hoof|distal phalanx of third digit of hand|third distal phalanx of hand|3rd digit of hand distal phalanx|forelimb coffin bone|equine 3rd phalanx of forelimb digit 3|forelimb medial ungual phalanx of artiodactyl|distal phalanx of manual digit III|hand digit 3 distal phalanx|forelimb pedal bone|distal phalanx of 3rd digit of hand|distal phalanx of middle finger|third finger distal phalanx|distal phalanx of 3rd finger|forelimb medial claw of artiodactyl|3rd finger distal phalanx|distal phalanx of third finger|equine forelimb distal phalanx http://purl.obolibrary.org/obo/UBERON_0004312 pheno_slim UBERON:0004313 biolink:AnatomicalEntity distal phalanx of manual digit 4 A distal phalanx that is part of a hand digit 4 [Automatically generated definition]. FMA:23948 hp.json distal phalanx of fourth finger|fourth distal phalanx of hand|4th digit of hand distal phalanx|distal phalanx of ring finger|distal phalanx of 4th digit of hand|fourth finger distal phalanx|hand digit 4 distal phalanx|4th finger distal phalanx|distal phalanx of fourth digit of hand|distal phalanx of manual digit IV|distal phalanx of 4th finger http://purl.obolibrary.org/obo/UBERON_0004313 pheno_slim UBERON:0004311 biolink:AnatomicalEntity distal phalanx of manual digit 2 A distal phalanx that is part of a hand digit 2 [Automatically generated definition]. FMA:23946 hp.json distal phalanx of second digit of hand|distal phalanx of index finger|2nd digit of hand distal phalanx|hand digit 2 distal phalanx|distal phalanx of 2nd digit of hand|2nd finger distal phalanx|distal phalanx of manual digit II|second distal phalanx of hand|second finger distal phalanx|distal phalanx of 2nd finger|distal phalanx of second finger http://purl.obolibrary.org/obo/UBERON_0004311 pheno_slim GO:0030258 biolink:BiologicalProcess lipid modification The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. hp.json http://purl.obolibrary.org/obo/GO_0030258 RO:0002297 biolink:NamedThing results in formation of RO:0002297 hp.json http://purl.obolibrary.org/obo/RO_0002297 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension PATO:0000004 biolink:NamedThing mobility A quality of inhering in a bearer by virtue of the bearer's disposition to move freely. hp.json http://purl.obolibrary.org/obo/PATO_0000004 scalar_slim|disposition_slim|attribute_slim RO:0002298 biolink:NamedThing results in morphogenesis of The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. RO:0002298 hp.json http://purl.obolibrary.org/obo/RO_0002298 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension RO:0002299 biolink:NamedThing results in maturation of The relationship that links an entity with a process that results in the progression of the entity over time that is independent of changes in it's shape and results in an end point state of that entity. RO:0002299 hp.json http://purl.obolibrary.org/obo/RO_0002299 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension GO:0042246 biolink:BiologicalProcess tissue regeneration The regrowth of lost or destroyed tissues. hp.json http://purl.obolibrary.org/obo/GO_0042246 RO:0002295 biolink:NamedThing results in developmental progression of p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). RO:0002295 hp.json http://purl.obolibrary.org/obo/RO_0002295 RO:0002296 biolink:NamedThing results in development of p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. RO:0002296 hp.json http://purl.obolibrary.org/obo/RO_0002296 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension PATO:0000001 biolink:NamedThing quality A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities hp.json http://purl.obolibrary.org/obo/PATO_0000001 GO:0030252 biolink:BiologicalProcess growth hormone secretion The regulated release of growth hormone from secretory granules into the blood. hp.json somatotropin secretion http://purl.obolibrary.org/obo/GO_0030252 GO:0030246 biolink:MolecularActivity carbohydrate binding Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. hp.json selectin|sugar binding http://purl.obolibrary.org/obo/GO_0030246 goslim_agr|goslim_pir|goslim_plant|goslim_flybase_ribbon|goslim_drosophila|goslim_metagenomics|goslim_chembl GO:0030247 biolink:MolecularActivity polysaccharide binding Binding to a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. hp.json polysaccharide assembly with MHC class II protein complex http://purl.obolibrary.org/obo/GO_0030247 GO:0042255 biolink:BiologicalProcess ribosome assembly The aggregation, arrangement and bonding together of the mature ribosome and of its subunits. hp.json ribosomal subunit assembly http://purl.obolibrary.org/obo/GO_0042255 goslim_yeast RO:0002286 biolink:NamedThing developmentally succeeded by Inverse of developmentally preceded by hp.json http://purl.obolibrary.org/obo/RO_0002286 GO:0042254 biolink:BiologicalProcess ribosome biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis. hp.json ribosome biogenesis and assembly http://purl.obolibrary.org/obo/GO_0042254 goslim_pombe|goslim_pir|goslim_drosophila|goslim_chembl|goslim_aspergillus|goslim_generic|goslim_candida PATO:0000014 biolink:NamedThing color A composite chromatic quality composed of hue, saturation and intensity parts. hp.json colour|relative color http://purl.obolibrary.org/obo/PATO_0000014 attribute_slim RO:0002287 biolink:NamedThing part of developmental precursor of hp.json http://purl.obolibrary.org/obo/RO_0002287 PATO:0000017 biolink:NamedThing color saturation A scalar chromatic property that is the degree of purity of perceived light. hp.json http://purl.obolibrary.org/obo/PATO_0000017 attribute_slim PATO:0000016 biolink:NamedThing color brightness A scalar optical property that is the intensity, value or amount of perceived light. hp.json color intensity|color value|color lightness http://purl.obolibrary.org/obo/PATO_0000016 attribute_slim RO:0002285 biolink:NamedThing developmentally replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else RO:0002285 hp.json http://purl.obolibrary.org/obo/RO_0002285 OBO:cl#lacks_part biolink:NamedThing lacks_part hp.json http://purl.obolibrary.org/obo/cl#lacks_part GO:0030239 biolink:BiologicalProcess myofibril assembly Formation of myofibrils, the repeating units of striated muscle. hp.json http://purl.obolibrary.org/obo/GO_0030239 PATO:0000025 biolink:NamedThing composition A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. hp.json content|compositionality|composed of|structure, composition http://purl.obolibrary.org/obo/PATO_0000025 scalar_slim|attribute_slim GO:0032892 biolink:BiologicalProcess positive regulation of organic acid transport Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json upregulation of organic acid transport|up regulation of organic acid transport|stimulation of organic acid transport|up-regulation of organic acid transport|activation of organic acid transport http://purl.obolibrary.org/obo/GO_0032892 GO:0032891 biolink:BiologicalProcess negative regulation of organic acid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json down regulation of organic acid transport|inhibition of organic acid transport|down-regulation of organic acid transport|downregulation of organic acid transport http://purl.obolibrary.org/obo/GO_0032891 GO:0032890 biolink:BiologicalProcess regulation of organic acid transport Any process that modulates the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0032890 GO:0030224 biolink:BiologicalProcess monocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. hp.json monocyte cell differentiation http://purl.obolibrary.org/obo/GO_0030224 GO:0032886 biolink:BiologicalProcess regulation of microtubule-based process Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton. hp.json http://purl.obolibrary.org/obo/GO_0032886 GO:0030225 biolink:BiologicalProcess macrophage differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. hp.json macrophage cell differentiation http://purl.obolibrary.org/obo/GO_0030225 RO:0002264 biolink:NamedThing acts upstream of or within c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process. hp.json affects http://purl.obolibrary.org/obo/RO_0002264 http://purl.obolibrary.org/obo/valid_for_go_gp2term GO:0042277 biolink:MolecularActivity peptide binding Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds. hp.json http://purl.obolibrary.org/obo/GO_0042277 goslim_chembl|goslim_pir RO:0002263 biolink:NamedThing acts upstream of c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes. hp.json http://purl.obolibrary.org/obo/RO_0002263 http://purl.obolibrary.org/obo/valid_for_go_gp2term PATO:0000033 biolink:NamedThing concentration of A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance. hp.json concentration http://purl.obolibrary.org/obo/PATO_0000033 relational_slim|attribute_slim|scalar_slim RO:0002257 biolink:NamedThing developmentally induces Inverse of developmentally induced by hp.json http://purl.obolibrary.org/obo/RO_0002257 RO:0002258 biolink:NamedThing developmentally preceded by Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p hp.json http://purl.obolibrary.org/obo/RO_0002258 GO:0032885 biolink:BiologicalProcess regulation of polysaccharide biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of polysaccharides. hp.json http://purl.obolibrary.org/obo/GO_0032885 GO:0030223 biolink:BiologicalProcess neutrophil differentiation The process in which a myeloid precursor cell acquires the specialized features of a neutrophil. hp.json neutrophil granulocyte differentiation|neutrophil cell differentiation|neutrophil granulocytopoiesis http://purl.obolibrary.org/obo/GO_0030223 GO:0032881 biolink:BiologicalProcess regulation of polysaccharide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides. hp.json http://purl.obolibrary.org/obo/GO_0032881 GO:0032880 biolink:BiologicalProcess regulation of protein localization Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. hp.json regulation of protein localisation|regulation of cellular protein localization|regulation of cellular protein localisation http://purl.obolibrary.org/obo/GO_0032880 goslim_chembl GO:0030219 biolink:BiologicalProcess megakaryocyte differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. hp.json megakaryocyte cell differentiation http://purl.obolibrary.org/obo/GO_0030219 GO:0030217 biolink:BiologicalProcess T cell differentiation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. hp.json T cell development|T-cell differentiation|T lymphocyte differentiation|T-lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0030217 GO:0030218 biolink:BiologicalProcess erythrocyte differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. Wikipedia:Erythropoiesis hp.json erythropoiesis|erythrocyte cell differentiation|red blood cell differentiation|RBC differentiation http://purl.obolibrary.org/obo/GO_0030218 GO:0032879 biolink:BiologicalProcess regulation of localization Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. hp.json regulation of localisation http://purl.obolibrary.org/obo/GO_0032879 GO:0032878 biolink:BiologicalProcess regulation of establishment or maintenance of cell polarity Any process that modulates the frequency, rate or extent of the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. hp.json http://purl.obolibrary.org/obo/GO_0032878 GO:0030216 biolink:BiologicalProcess keratinocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. hp.json keratinocyte cell differentiation http://purl.obolibrary.org/obo/GO_0030216 GO:0030213 biolink:BiologicalProcess hyaluronan biosynthetic process The chemical reactions and pathways resulting in the formation of hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. hp.json hyaluronan anabolism|hyaluronan synthesis|hyaluronan biosynthesis|hyaluronan formation http://purl.obolibrary.org/obo/GO_0030213 RO:0002254 biolink:NamedThing has developmental contribution from x has developmental contribution from y iff x has some part z such that z develops from y RO:0002254 hp.json http://purl.obolibrary.org/obo/RO_0002254 RO:0002255 biolink:NamedThing developmentally contributes to inverse of has developmental contribution from RO:0002255 hp.json http://purl.obolibrary.org/obo/RO_0002255 http://purl.obolibrary.org/obo/RO_0002259 RO:0002256 biolink:NamedThing developmentally induced by t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T. RO:0002256 hp.json http://purl.obolibrary.org/obo/RO_0002256 GO:0030212 biolink:BiologicalProcess hyaluronan metabolic process The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. hp.json hyaluronan metabolism http://purl.obolibrary.org/obo/GO_0030212 GO:0032871 biolink:BiologicalProcess regulation of karyogamy Any process that modulates the frequency, rate or extent of karyogamy, the creation of a single nucleus from multiple nuclei as a result of membrane fusion. hp.json http://purl.obolibrary.org/obo/GO_0032871 GO:0032870 biolink:BiologicalProcess cellular response to hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. hp.json http://purl.obolibrary.org/obo/GO_0032870 GO:0030203 biolink:BiologicalProcess glycosaminoglycan metabolic process The chemical reactions and pathways involving glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. hp.json glycosaminoglycan metabolism http://purl.obolibrary.org/obo/GO_0030203 RO:0002231 biolink:NamedThing has start location x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y RO:0002231 hp.json http://purl.obolibrary.org/obo/RO_0002231 ro-eco RO:0002232 biolink:NamedThing has end location x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y RO:0002232 hp.json http://purl.obolibrary.org/obo/RO_0002232 ro-eco RO:0002233 biolink:NamedThing has input p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. RO:0002233 hp.json http://purl.obolibrary.org/obo/RO_0002233 ro-eco|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_ontology RO:0002234 biolink:NamedThing has output p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p. RO:0002234 hp.json http://purl.obolibrary.org/obo/RO_0002234 ro-eco|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_ontology RO:0002230 biolink:NamedThing ends with x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. RO:0002230 hp.json http://purl.obolibrary.org/obo/RO_0002230 ro-eco RO:0002229 biolink:NamedThing ends Relation between occurrents, shares an end boundary with. RO:0002229 hp.json finishes http://purl.obolibrary.org/obo/RO_0002229 ro-eco RO:0002224 biolink:NamedThing starts with x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. RO:0002224 hp.json http://purl.obolibrary.org/obo/RO_0002224 ro-eco RO:0002225 biolink:NamedThing develops from part of x develops from part of y if and only if there exists some z such that x develops from z and z is part of y RO:0002225 hp.json http://purl.obolibrary.org/obo/RO_0002225 RO:0002226 biolink:NamedThing develops in x develops_in y if x is located in y whilst x is developing RO:0002226 hp.json http://purl.obolibrary.org/obo/RO_0002226 RO:0002220 biolink:NamedThing adjacent to x adjacent to y if and only if x and y share a boundary. RO:0002220 hp.json http://purl.obolibrary.org/obo/RO_0002220 http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_ontology RO:0002221 biolink:NamedThing surrounds inverse of surrounded_by RO:0002221 hp.json http://purl.obolibrary.org/obo/RO_0002221 http://purl.obolibrary.org/obo/RO_0002259 RO:0002222 biolink:NamedThing temporally related to hp.json http://purl.obolibrary.org/obo/RO_0002222 ro-eco RO:0002223 biolink:NamedThing starts Relation between occurrents, shares a start boundary with. RO:0002223 hp.json http://purl.obolibrary.org/obo/RO_0002223 ro-eco RO:0002219 biolink:NamedThing surrounded by x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y RO:0002219 hp.json http://purl.obolibrary.org/obo/RO_0002219 RO:0002213 biolink:NamedThing positively regulates Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2. RO:0002213 hp.json http://purl.obolibrary.org/obo/RO_0002213 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_gp2term RO:0002215 biolink:Protein capable_of A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. RO:0002215 hp.json http://purl.obolibrary.org/obo/RO_0002215 ro-eco|ro-eco RO:0002216 biolink:NamedThing capable of part of c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. RO:0002216 hp.json http://purl.obolibrary.org/obo/RO_0002216 GO:0019882 biolink:BiologicalProcess antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. Wikipedia:Antigen_presentation hp.json antigen processing|antigen presentation http://purl.obolibrary.org/obo/GO_0019882 HP:0100886 biolink:PhenotypicFeature Abnormality of globe location An abnormality in the placement of the ocular globe (eyeball). UMLS:C4021946 hp.json Abnormality of globe position|Abnormality of eyeball position|Abnormality of eyeball location http://purl.obolibrary.org/obo/HP_0100886 HP:0100887 biolink:PhenotypicFeature Abnormality of globe size An abnormality in the size of the ocular globe (eyeball). UMLS:C4021945 hp.json Abnormality of eyeball size|Eye size difference http://purl.obolibrary.org/obo/HP_0100887 HP:0100884 biolink:PhenotypicFeature Compensatory scoliosis A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time. UMLS:C0343292|SNOMEDCT_US:203645000 hp.json http://purl.obolibrary.org/obo/HP_0100884 HP:0100885 biolink:PhenotypicFeature Lateral venous anomaly Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life. UMLS:C4020945 hp.json Vein of servelle|Lateral marginal vein of Servelle http://purl.obolibrary.org/obo/HP_0100885 HP:0100882 biolink:PhenotypicFeature Fibrous hamartoma A rare, benign soft tissue tumor that typically occurs within the first two years of life. SNOMEDCT_US:22257004|UMLS:C0265979|SNOMEDCT_US:56364004 hp.json Fibrous hamartoma of infancy http://purl.obolibrary.org/obo/HP_0100882 HP:0100883 biolink:PhenotypicFeature Chorangioma Hamartoma-like growth in the placenta consisting of blood vessels. SNOMEDCT_US:699948001|SNOMEDCT_US:2099007|MSH:D006391|UMLS:C0677608|SNOMEDCT_US:237268002 hp.json Placental hamartoma http://purl.obolibrary.org/obo/HP_0100883 HP:0100880 biolink:PhenotypicFeature Nephrogenic rest Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. SNOMEDCT_US:405933007|UMLS:C1320468 hp.json http://purl.obolibrary.org/obo/HP_0100880 HP:0100881 biolink:PhenotypicFeature Congenital mesoblastic nephroma Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. UMLS:C1332965|MSH:D018201 hp.json http://purl.obolibrary.org/obo/HP_0100881 RO:0002210 biolink:NamedThing directly develops into inverse of directly develops from hp.json http://purl.obolibrary.org/obo/RO_0002210 http://purl.obolibrary.org/obo/RO_0002259 RO:0002211 biolink:NamedThing regulates process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2. RO:0002211 hp.json http://purl.obolibrary.org/obo/RO_0002211 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_gp2term RO:0002212 biolink:NamedThing negatively regulates Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2. RO:0002212 hp.json http://purl.obolibrary.org/obo/RO_0002212 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_go_gp2term RO:0002207 biolink:NamedThing directly develops from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. RO:0002207 hp.json http://purl.obolibrary.org/obo/RO_0002207 RO:0002202 biolink:NamedThing develops_from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y RO:0002202 hp.json http://purl.obolibrary.org/obo/RO_0002202 RO:0002203 biolink:NamedThing develops into inverse of develops from RO:0002203 hp.json http://purl.obolibrary.org/obo/RO_0002203 http://purl.obolibrary.org/obo/RO_0002259 HP:0100888 biolink:PhenotypicFeature Interdigital loops UMLS:C4021944 hp.json http://purl.obolibrary.org/obo/HP_0100888 HP:0100889 biolink:PhenotypicFeature Abnormality of the ductus choledochus An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. UMLS:C4020944 hp.json Abnormality of the common bile duct http://purl.obolibrary.org/obo/HP_0100889 HP:0100898 biolink:PhenotypicFeature Connective tissue nevi Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. MSH:C562737|UMLS:C0334083|SNOMEDCT_US:22858003|SNOMEDCT_US:400091006 hp.json http://purl.obolibrary.org/obo/HP_0100898 HP:0100896 biolink:PhenotypicFeature Rectal polyposis The presence of multiple rectal hyperplastic/adenomatous polyps. SNOMEDCT_US:39772007|UMLS:C0034887 hp.json Rectal polyps|Multiple rectal polyps http://purl.obolibrary.org/obo/HP_0100896 HP:0100893 biolink:PhenotypicFeature Prominent xiphoid process Increased prominence of the xiphoid process of the sternum. UMLS:C4020942 hp.json Prominent xiphisternum http://purl.obolibrary.org/obo/HP_0100893 HP:0100894 biolink:PhenotypicFeature Broad xiphoid process Increased side-to-side width of the xiphoid process of the sternum. UMLS:C4020901 hp.json Broad xiphisternum http://purl.obolibrary.org/obo/HP_0100894 HP:0100891 biolink:PhenotypicFeature Bifid xiphoid process A cleft of the xiphoid process of the sternum. UMLS:C4020943 hp.json Bifid xiphisternum http://purl.obolibrary.org/obo/HP_0100891 HP:0100892 biolink:PhenotypicFeature Abnormality of the xiphoid process An abnormality of the xiphoid process of the sternum. UMLS:C4021943 hp.json http://purl.obolibrary.org/obo/HP_0100892 HP:0100890 biolink:PhenotypicFeature Cyst of the ductus choledochus SNOMEDCT_US:440471007|UMLS:C0008340|SNOMEDCT_US:397868007|SNOMEDCT_US:398197009|MSH:D015529 hp.json Choledochal cyst http://purl.obolibrary.org/obo/HP_0100890 GO:0140734 biolink:BiologicalProcess ammonium excretion The elimination of ammonium ions from an excretory cell. hp.json ammonia excretion http://purl.obolibrary.org/obo/GO_0140734 HP:0100899 biolink:PhenotypicFeature Sclerosis of finger phalanx An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020941 hp.json Increased bone density in the finger bone|Sclerosis of the phalanges of the hand http://purl.obolibrary.org/obo/HP_0100899 GO:0044848 biolink:BiologicalProcess biological phase A distinct period or stage in a biological process or cycle. hp.json http://purl.obolibrary.org/obo/GO_0044848 gocheck_do_not_manually_annotate UBERON:0018597 biolink:AnatomicalEntity upper primary canine tooth A primary canine tooth that is part of a upper jaw region. FMA:84228 hp.json upper deciduous canine tooth|upper primary tooth C|deciduous upper canine tooth http://purl.obolibrary.org/obo/UBERON_0018597 UBERON:0018598 biolink:AnatomicalEntity lower primary canine tooth A primary canine tooth that is part of a lower jaw region. FMA:84229 hp.json lower deciduous canine tooth|primary lower canine tooth|lower primary tooth C|deciduous lower canine tooth http://purl.obolibrary.org/obo/UBERON_0018598 UBERON:0018595 biolink:AnatomicalEntity lower central primary incisor tooth A lower primary incisor tooth that is in_the_central_side_of a dentition. FMA:84218 hp.json lower central deciduous incisor tooth|lower primary tooth A|deciduous lower central incisor tooth http://purl.obolibrary.org/obo/UBERON_0018595 pheno_slim UBERON:0018596 biolink:AnatomicalEntity lower lateral primary incisor tooth A lower primary incisor tooth that is in_the_lateral_side_of a dentition. FMA:84219 hp.json lower lateral deciduous incisor tooth|lower primary tooth B|deciduous lower lateral incisor tooth|mandibular lateral primary incisor http://purl.obolibrary.org/obo/UBERON_0018596 pheno_slim UBERON:0018593 biolink:AnatomicalEntity upper central primary incisor tooth A upper primary canine tooth that is in_the_central_side_of a dentition. FMA:84216 hp.json upper central deciduous incisor tooth|upper primary tooth A http://purl.obolibrary.org/obo/UBERON_0018593 pheno_slim UBERON:0018594 biolink:AnatomicalEntity upper lateral primary incisor tooth A upper primary canine tooth that is in_the_lateral_side_of a dentition. FMA:84217 hp.json upper lateral deciduous incisor tooth|upper primary tooth B http://purl.obolibrary.org/obo/UBERON_0018594 pheno_slim UBERON:0018591 biolink:AnatomicalEntity upper primary incisor tooth A primary incisor tooth that is part of a upper jaw region. FMA:84214 hp.json upper deciduous incisor tooth|deciduous upper incisor tooth http://purl.obolibrary.org/obo/UBERON_0018591 UBERON:0018599 biolink:AnatomicalEntity upper second primary molar tooth FMA:84236 hp.json upper primary tooth E|upper second deciduous molar tooth http://purl.obolibrary.org/obo/UBERON_0018599 OBO:hp#obsolete_synonym biolink:NamedThing discarded/obsoleted synonym hp.json http://purl.obolibrary.org/obo/hp#obsolete_synonym GO:0044877 biolink:MolecularActivity protein-containing complex binding Binding to a macromolecular complex. hp.json protein complex binding|macromolecular complex binding http://purl.obolibrary.org/obo/GO_0044877 goslim_chembl GO:0030282 biolink:BiologicalProcess bone mineralization The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. hp.json bone calcification http://purl.obolibrary.org/obo/GO_0030282 GO:0030279 biolink:BiologicalProcess negative regulation of ossification Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. hp.json negative regulation of bone biosynthesis|downregulation of ossification|negative regulation of bone formation|down regulation of ossification|inhibition of ossification|down-regulation of ossification http://purl.obolibrary.org/obo/GO_0030279 GO:0042221 biolink:BiologicalProcess response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. hp.json response to chemical stimulus|response to chemical substance http://purl.obolibrary.org/obo/GO_0042221 goslim_candida|gocheck_do_not_manually_annotate|goslim_plant|goslim_drosophila|goslim_metagenomics|goslim_aspergillus|goslim_yeast GO:0030278 biolink:BiologicalProcess regulation of ossification Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. hp.json regulation of bone formation|regulation of bone biosynthesis http://purl.obolibrary.org/obo/GO_0030278 NCBITaxon:862507 biolink:OrganismalEntity Mus GC_ID:1 hp.json Mus http://purl.obolibrary.org/obo/NCBITaxon_862507 NCBITaxon:1437010 biolink:OrganismalEntity Boreoeutheria PMID:11743200|PMID:11791233|GC_ID:1 hp.json Boreotheria http://purl.obolibrary.org/obo/NCBITaxon_1437010 GO:0030264 biolink:BiologicalProcess nuclear fragmentation involved in apoptotic nuclear change The breakdown of the nucleus into small membrane-bounded compartments, or blebs, each of which contain compacted DNA. hp.json nucleus fragmentation|nuclear fragmentation during apoptosis|apoptotic nuclear fragmentation http://purl.obolibrary.org/obo/GO_0030264 GO:0030262 biolink:BiologicalProcess apoptotic nuclear changes Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. hp.json apoptotic nuclear change http://purl.obolibrary.org/obo/GO_0030262 GO:0030263 biolink:BiologicalProcess apoptotic chromosome condensation The compaction of chromatin during apoptosis. Wikipedia:Pyknosis hp.json pyknosis http://purl.obolibrary.org/obo/GO_0030263 GO:0030261 biolink:BiologicalProcess chromosome condensation The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. hp.json DNA condensation|eukaryotic chromosome condensation|nuclear chromosome condensation http://purl.obolibrary.org/obo/GO_0030261 HP:0100920 biolink:PhenotypicFeature Sclerosis of 4th finger phalanx An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020935 hp.json Sclerosis of the phalanges of the 4th finger|Increased bone density in ring finger bone http://purl.obolibrary.org/obo/HP_0100920 UBERON:0018664 biolink:AnatomicalEntity neck of bone element The neck region of a bone organ. hp.json neck of bone|bone neck http://purl.obolibrary.org/obo/UBERON_0018664 UBERON:0018667 biolink:AnatomicalEntity neck of scapula FMA:23254 hp.json scapular neck|anatomical neck of scapula|collum scapulae http://purl.obolibrary.org/obo/UBERON_0018667 UBERON:0004022 biolink:AnatomicalEntity germinal neuroepithelium The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells. hp.json germinal neuroepithelium|original neural tube|germinal neuroepithelial layer|germinal neuroepithelial layer http://purl.obolibrary.org/obo/UBERON_0004022 pheno_slim HP:0002377 biolink:PhenotypicFeature obsolete Paraganglioma-related cranial nerve palsy hp.json http://purl.obolibrary.org/obo/HP_0002377 HP:0002378 biolink:PhenotypicFeature Hand tremor An unintentional, oscillating to-and-fro muscle movement affecting the hand. UMLS:C0239842 hp.json Tremor of hands|Tremor of hand|tremors in hands|Hand tremor http://purl.obolibrary.org/obo/HP_0002378 UBERON:0006683 biolink:AnatomicalEntity posterior fontanelle A gap between bones in the skull at the junction of the sagittal suture and lambdoidal suture. EMAPA:19200|FMA:75440 hp.json fonticulus posterior|occipital fontanelle|posterior fontanelle of skull http://purl.obolibrary.org/obo/UBERON_0006683 pheno_slim HP:0002375 biolink:PhenotypicFeature Hypokinesia Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. MSH:D018476|UMLS:C0086439|SNOMEDCT_US:255385008|SNOMEDCT_US:43994002 hp.json Decreased spontaneous movement|Decreased spontaneous movements|Decreased muscle movement http://purl.obolibrary.org/obo/HP_0002375 HP:0002376 biolink:PhenotypicFeature Developmental regression Loss of developmental skills, as manifested by loss of developmental milestones. UMLS:C1855019|SNOMEDCT_US:609225004|UMLS:C1855996|UMLS:C1850493|UMLS:C1859678|UMLS:C1836830|UMLS:C1857121|UMLS:C1836550|UMLS:C1855009 hp.json Psychomotor regression, progressive|Neurodevelopmental regression|Psychomotor regression in infants|Mental deterioration in childhood|Psychomotor regression|Loss of developmental milestones|Psychomotor regression beginning in infancy http://purl.obolibrary.org/obo/HP_0002376 UBERON:0006682 biolink:AnatomicalEntity hypoglossal canal The hypoglossal canal is a bony canal in the occipital bone of the skull. FMA:75370|Wikipedia:Hypoglossal_canal|EMAPA:19012|SCTID:139380001 hp.json canalis nervi hypoglossi|anterior condylar canal|hyperglossal canal|canalis nervi hypoglossi|hyperglossal canal http://purl.obolibrary.org/obo/UBERON_0006682 HP:0100929 biolink:PhenotypicFeature Sclerosis of 5th toe phalanx An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020927 hp.json Increased bone density in little toe bone|Increased bone density in pinky toe bone|Sclerosis of the phalanges of the 5th toe|Increased bone density in pinkie toe bone http://purl.obolibrary.org/obo/HP_0100929 HP:0100927 biolink:PhenotypicFeature Sclerosis of 3rd toe phalanx An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020929 hp.json Increased bone density in 3rd toe bone|Sclerosis of the phalanges of the 3rd toe http://purl.obolibrary.org/obo/HP_0100927 HP:0002370 biolink:PhenotypicFeature Poor coordination UMLS:C0563243 hp.json Poor coordination http://purl.obolibrary.org/obo/HP_0002370 HP:0100928 biolink:PhenotypicFeature Sclerosis of 4th toe phalanx An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020928 hp.json Sclerosis of the phalanges of the 4th toe|Increased bone density in 4th toe bone http://purl.obolibrary.org/obo/HP_0100928 HP:0100925 biolink:PhenotypicFeature Sclerosis of foot bone An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020931 hp.json Sclerosis of bones of the feet|Increased bone density in foot bone http://purl.obolibrary.org/obo/HP_0100925 HP:0100926 biolink:PhenotypicFeature Sclerosis of 2nd toe phalanx An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020930 hp.json Sclerosis of the phalanges of the 2nd toe|Increased bone density in 2nd toe bone http://purl.obolibrary.org/obo/HP_0100926 HP:0100923 biolink:PhenotypicFeature Clavicular sclerosis An increase in bone density within the clavicle. UMLS:C3554669 hp.json Osteosclerosis of the clavicles|Osteosclerosis of the clavicle|Increased bone density in collarbone http://purl.obolibrary.org/obo/HP_0100923 UBERON:0006689 biolink:AnatomicalEntity frenulum of tongue A small fold of mucous membrane extending from the floor of the mouth to the midline of the underside of the tongue. EMAPA:18656|UMLS:C2339893|FMA:54659|NCIT:C87076 hp.json frenulum linguæ|frenulum of the tongue|lingual frenum|frenulum linguae|frenulum|lingual frenulum|tongue frenulum|frenulum linguae http://purl.obolibrary.org/obo/UBERON_0006689 pheno_slim HP:0002373 biolink:PhenotypicFeature Febrile seizure (within the age range of 3 months to 6 years) A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. MSH:D003294|UMLS:C0009952|SNOMEDCT_US:41497008 hp.json Fever induced seizures|Seizures, febrile, in early childhood|Febrile seizures|Febrile convulsion|Seizures, generalized, associated with fever http://purl.obolibrary.org/obo/HP_0002373 HP:0100924 biolink:PhenotypicFeature Sclerosis of toe phalanx An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020932 hp.json Increased bone density in the toe bone|Sclerosis of the phalanges of the toes http://purl.obolibrary.org/obo/HP_0100924 UBERON:0004027 biolink:AnatomicalEntity chorionic plate That portion of the chorionic wall in the region of its uterine attachment, which gives rise to chorionic villi; it consists of the mesoderm that lines the chorionic vesicle and, on the maternal side, of the trophoblast that lines the intervillous spaces; in the last half of gestation, the mesodermal connective tissue is largely replaced by fibrinoid material, and the amnionic membrane is adherent to the fetal side of the plate. UMLS:C0230972|SCTID:256391000|BTO:0002879|NCIT:C34123|EMAPA:31872 hp.json http://purl.obolibrary.org/obo/UBERON_0004027 pheno_slim HP:0002374 biolink:PhenotypicFeature Diminished movement UMLS:C4025710 hp.json Diminished movement http://purl.obolibrary.org/obo/HP_0002374 HP:0100921 biolink:PhenotypicFeature Sclerosis of 5th finger phalanx An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020934 hp.json Increased bone density in pinky finger bone|Increased bone density in little finger bone|Sclerosis of the phalanges of the 5th finger|Increased bone density in pinkie finger bone http://purl.obolibrary.org/obo/HP_0100921 HP:0002371 biolink:PhenotypicFeature Loss of speech UMLS:C0542223 hp.json Loss of speech http://purl.obolibrary.org/obo/HP_0002371 HP:0100922 biolink:PhenotypicFeature Sclerosis of thumb phalanx UMLS:C4020933 hp.json Sclerosis of the phalanges of the thumb|Increased bone density in thumb bone http://purl.obolibrary.org/obo/HP_0100922 UBERON:0006686 biolink:AnatomicalEntity spinal vein A vein that is part of a vertebral column. MA:0002108|EMAPA:18255|FMA:76735 hp.json vena spinalis|spinal branch http://purl.obolibrary.org/obo/UBERON_0006686 HP:0002372 biolink:PhenotypicFeature Normal interictal EEG Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. UMLS:C1843146 hp.json http://purl.obolibrary.org/obo/HP_0002372 HP:0100930 biolink:PhenotypicFeature Sclerosis of hallux phalanx An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020926 hp.json Sclerosis of the phalanges of the hallux|Increased bone density in big toe bone http://purl.obolibrary.org/obo/HP_0100930 HP:0100931 biolink:PhenotypicFeature Sclerosis of the proximal phalanx of the 2nd toe An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4021927 hp.json Increased bone density in the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100931 UBERON:0006674 biolink:AnatomicalEntity inguinal ring An entrance or exit of the inguinal canal. FMA:65075|EMAPA:29307 hp.json http://purl.obolibrary.org/obo/UBERON_0006674 pheno_slim HP:0002389 biolink:PhenotypicFeature Cavum septum pellucidum If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. UMLS:C1840380 hp.json Large cavum septi pellucidi|Widened cavum septum pellucidum|Persistent cavum septum pellucidum http://purl.obolibrary.org/obo/HP_0002389 UBERON:0006673 biolink:AnatomicalEntity mandibular canal A canal within the mandible that contains the inferior alveolar nerve, inferior alveolar artery, and inferior alveolar vein. It runs obliquely downward and forward in the ramus, and then horizontally forward in the body, where it is placed under the alveoli and communicates with them by small openings. FMA:59473|EMAPA:19161 hp.json inferior alveolar canal http://purl.obolibrary.org/obo/UBERON_0006673 UBERON:0006671 biolink:AnatomicalEntity orbital fat pad A fat pad that is part of a orbital region. FMA:59005|EMAPA:19152 hp.json retrobulbar fat|orbital fat|orbital fat body|intraorbital fat pad http://purl.obolibrary.org/obo/UBERON_0006671 UBERON:0006670 biolink:AnatomicalEntity central tendon of diaphragm The three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers. NCIT:C34119|Wikipedia:Central_tendon_of_diaphragm|UMLS:C0230162|EMAPA:17702|VHOG:0001399|SCTID:244943002|FMA:58279 hp.json central tendon|centrum tendineum diaphragmatis|centrum tendineum http://purl.obolibrary.org/obo/UBERON_0006670 pheno_slim HP:0100938 biolink:PhenotypicFeature Sclerosis of the middle phalanx of the 5th toe UMLS:C4021920 hp.json Increased bone density in the middle bone of the pinkie toe|Increased bone density in the middle bone of the pinky toe|Increased bone density in the middle bone of the little toe http://purl.obolibrary.org/obo/HP_0100938 HP:0002380 biolink:PhenotypicFeature Fasciculations Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. SNOMEDCT_US:82470000|MSH:D005207|UMLS:C0015644 hp.json Muscle twitch|Muscle fasciculation|Fasciculation http://purl.obolibrary.org/obo/HP_0002380 HP:0002381 biolink:PhenotypicFeature Aphasia An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. MSH:D001037|UMLS:C0003537|SNOMEDCT_US:87486003 hp.json Difficulty finding words|Loss of words|Losing words http://purl.obolibrary.org/obo/HP_0002381 HP:0100939 biolink:PhenotypicFeature Sclerosis of the distal phalanx of the 2nd toe UMLS:C4021919 hp.json Increased bone density in the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100939 HP:0100936 biolink:PhenotypicFeature Sclerosis of the middle phalanx of the 3rd toe An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4021922 hp.json Increased bone density in the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100936 HP:0100937 biolink:PhenotypicFeature Sclerosis of the middle phalanx of the 4th toe UMLS:C4021921 hp.json Increased bone density in the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100937 HP:0002384 biolink:PhenotypicFeature Focal impaired awareness seizure Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. UMLS:C0270834|UMLS:C0149958|SNOMEDCT_US:4103001 hp.json Focal seizures with impairment of consciousness or awareness|Localized dyscognitive seizure|Localised seizure with loss of awareness|Complex partial seizure|Focal seizure with loss of awareness|Localised seizure with impaired awareness|Focal impaired awareness seizures|Dyscognitive seizures|Partial seizure with impairment of awareness|Partial dyscognitive seizure|Localized seizure with loss of awareness|Localised dyscognitive seizure|Complex partial seizures|Localized seizure with impaired awareness|Focal seizure with impairment of awareness|Focal dyscognitive seizure|Complex focal seizures|Partial seizure with loss of awareness http://purl.obolibrary.org/obo/HP_0002384 HP:0100934 biolink:PhenotypicFeature Sclerosis of the proximal phalanx of the 5th toe UMLS:C4021924 hp.json Increased bone density in the innermost bone of the little toe|Increased bone density in the innermost bone of the pinky toe|Increased bone density in the innermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100934 UBERON:0004015 biolink:AnatomicalEntity embryonic-extraembryonic boundary The connection between the embryo proper and extraembryonic tissues. hp.json http://purl.obolibrary.org/obo/UBERON_0004015 pheno_slim HP:0002385 biolink:PhenotypicFeature Paraparesis Weakness or partial paralysis in the lower limbs. MSH:D020335|SNOMEDCT_US:1845001|UMLS:C0221166 hp.json Partial paralysis of legs http://purl.obolibrary.org/obo/HP_0002385 UBERON:0004016 biolink:AnatomicalEntity dermatome A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. EHDAA:1737|EHDAA:1725|EMAPA:32838|EHDAA:1731|XAO:0000220|NCIT:C61572|AAO:0011028|UMLS:C0180383|FMA:295656|Wikipedia:Dermatome_(embryology)|EHDAA2_RETIRED:0003428|EHDAA:1719|AEO:0001017 hp.json cutis plate|dermatomal mesenchyme|epimere mesoderm|mesenchyma dermatomiale|mesenchyma dermatomiale|cutis plate|dermatomal mesenchyme http://purl.obolibrary.org/obo/UBERON_0004016 pheno_slim UBERON:0006677 biolink:AnatomicalEntity surface of epithelium An anatomical boundary that adjacent_to a epithelium. FMA:70997 hp.json epithelium surface http://purl.obolibrary.org/obo/UBERON_0006677 HP:0100935 biolink:PhenotypicFeature Sclerosis of the middle phalanx of the 2nd toe UMLS:C4021923 hp.json Increased bone density in the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100935 HP:0100932 biolink:PhenotypicFeature Sclerosis of the proximal phalanx of the 3rd toe An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4021926 hp.json Increased bone density in the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100932 HP:0002383 biolink:PhenotypicFeature Infectious encephalitis A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. SNOMEDCT_US:45170000|UMLS:C0014038|MSH:D004660 hp.json Brain inflammation http://purl.obolibrary.org/obo/HP_0002383 UBERON:0004014 biolink:AnatomicalEntity labium minora One of the folds of skin which form the inner lips on both sides of the vaginal opening. galen:LabiaMinora|FMA:20374|MA:0002845|NCIT:C12307|UMLS:C0227766 hp.json labium minus pudendi|labium minus|labium minus pudendi|labia minorum|labium minorum|labium minora http://purl.obolibrary.org/obo/UBERON_0004014 pheno_slim HP:0100933 biolink:PhenotypicFeature Sclerosis of the proximal phalanx of the 4th toe UMLS:C4021925 hp.json Increased bone density in the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100933 UBERON:0006675 biolink:AnatomicalEntity venous valve A valve that is part of a vein. MESH:D055422|FMA:68095 hp.json valve of vein http://purl.obolibrary.org/obo/UBERON_0006675 HP:0100941 biolink:PhenotypicFeature Sclerosis of the distal phalanx of the 4th toe UMLS:C4021917 hp.json Increased bone density in the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100941 HP:0100942 biolink:PhenotypicFeature Sclerosis of the distal phalanx of the 5th toe UMLS:C4021916 hp.json Increased bone density in the outermost bone of the little toe|Increased bone density in the outermost bone of the pinkie toe|Increased bone density in the outermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100942 HP:0100940 biolink:PhenotypicFeature Sclerosis of the distal phalanx of the 3rd toe An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4021918 hp.json Increased bone density in the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100940 UBERON:0018649 biolink:AnatomicalEntity cardiac muscle tissue of ventricle FMA:83450 hp.json ventricular cardiac muscle tissue|ventricular cardiac muscle tissue|ventricular muscle|ventricular heart muscle|ventricular muscle|ventricular heart muscle http://purl.obolibrary.org/obo/UBERON_0018649 UBERON:0018645 biolink:AnatomicalEntity incisor region of dentition The subdivision of the dentition that consists entire of incisor teeth. hp.json set of incisors http://purl.obolibrary.org/obo/UBERON_0018645 UBERON:0018643 biolink:AnatomicalEntity deciduous molar tooth 2 hp.json deciduous second molar tooth http://purl.obolibrary.org/obo/UBERON_0018643 UBERON:0018644 biolink:AnatomicalEntity deciduous molar tooth 1 hp.json deciduous molar 1|first temporarary molar|deciduous first molar tooth http://purl.obolibrary.org/obo/UBERON_0018644 HP:0002355 biolink:PhenotypicFeature Difficulty walking Reduced ability to walk (ambulate). SNOMEDCT_US:228158008|MSH:D051346|UMLS:C0311394 hp.json Difficulty walking|Difficulty in walking|Walking disability http://purl.obolibrary.org/obo/HP_0002355 UBERON:0004000 biolink:AnatomicalEntity tarsal gland acinus A sac-like structure comprising a sebaceous gland. EMAPA:37972 hp.json palpebral gland acinus|Meibomian gland acinus|acinus of tarsal gland http://purl.obolibrary.org/obo/UBERON_0004000 pheno_slim HP:0002356 biolink:PhenotypicFeature Writer's cramp A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. UMLS:C0154676|MSH:D020821|SNOMEDCT_US:52008007 hp.json Writer's cramp http://purl.obolibrary.org/obo/HP_0002356 UBERON:0004001 biolink:AnatomicalEntity olfactory bulb layer EMAPA:37917|NLXANAT:20090402 hp.json cytoarchitectural part of olfactory bulb http://purl.obolibrary.org/obo/UBERON_0004001 pheno_slim UBERON:0006661 biolink:AnatomicalEntity epicranial aponeurosis The galea aponeurotica (epicranial aponeurosis, aponeurosis epicranialis) is a tough layer of dense fibrous tissue which covers the upper part of the cranium; behind, it is attached, in the interval between its union with the Occipitales, to the external occipital protuberance and highest nuchal lines of the occipital bone; in front, it forms a short and narrow prolongation between its union with the Frontales. On either side it gives origin to the Auriculares anterior and superior; in this situation it loses its aponeurotic character, and is continued over the temporal fascia to the zygomatic arch as a layer of laminated areolar tissue. It is closely connected to the integument by the firm, dense, fibro-fatty layer which forms the superficial fascia of the scalp: it is attached to the pericranium by loose cellular tissue, which allows the aponeurosis, carrying with it the integument to move through a considerable distance. EMAPA:19210|FMA:46768 hp.json galea aponeurosis|galeal aponeurosis|aponeurosis epicranialis|aponeurosis of epicranius|epicranial aponeurosis|cranial aponeurosis|galea aponeurotica|epicranius aponeurosis|galea aponeurotica; aponeurosis epicranialis|epicranial aponeurosis http://purl.obolibrary.org/obo/UBERON_0006661 HP:0002353 biolink:PhenotypicFeature EEG abnormality Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. UMLS:C0151611|SNOMEDCT_US:274521009 hp.json Electroencephalogram abnormal|Abnormal EEG|EEG abnormalities|Abnormal electroencephalogram|Electroencephalogram abnormalities http://purl.obolibrary.org/obo/HP_0002353 HP:0002354 biolink:PhenotypicFeature Memory impairment An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. MSH:D008569|SNOMEDCT_US:55533009|UMLS:C0233794|UMLS:C0542476|UMLS:C0751295|SNOMEDCT_US:386807006 hp.json Forgetfulness|Memory problems|Memory loss|Poor memory|Memory impairment http://purl.obolibrary.org/obo/HP_0002354 UBERON:0006660 biolink:AnatomicalEntity muscular coat A region of muscle in many organs in the vertebrate body, adjacent to the submucosa membrane. It is responsible for gut movement such as peristalsis. SCTID:86915006|BTO:0004838|Wikipedia:Muscular_layer|UMLS:C0225358 hp.json transverse muscular fibers|muscular layer|muscularis propria|tunica muscularis|muscular coat|transverse muscular fibers|tunica externa|muscularis externa|tunica muscularis|muscularis propria|tunica muscularis|muscular coat|muscularis layer|muscularis http://purl.obolibrary.org/obo/UBERON_0006660 HP:0002359 biolink:PhenotypicFeature Frequent falls UMLS:C0850703 hp.json Frequent falls http://purl.obolibrary.org/obo/HP_0002359 HP:0002357 biolink:PhenotypicFeature obsolete Dysphasia hp.json http://purl.obolibrary.org/obo/HP_0002357 UBERON:0004008 biolink:AnatomicalEntity cerebellar plate The embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium. EHDAA2:0004401|DHBA:12698 hp.json cerebellum plate|cerebellum roof plate http://purl.obolibrary.org/obo/UBERON_0004008 pheno_slim HP:0100947 biolink:PhenotypicFeature Sclerosis of middle toe phalanx An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020924 hp.json Sclerosis of the middle phalanges of the toes|Increased bone density in middle toe bone http://purl.obolibrary.org/obo/HP_0100947 HP:0100948 biolink:PhenotypicFeature Sclerosis of distal toe phalanx An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020923 hp.json Sclerosis of the distal phalanges of the toes|Increased bone density in the outermost bone of the toes http://purl.obolibrary.org/obo/HP_0100948 UBERON:0006668 biolink:AnatomicalEntity carotid canal On the interior surface of the temporal bone, behind the rough surface of the apex, is the large circular aperture of the carotid canal, which ascends at first vertically, and then, making a bend, runs horizontally forward and medialward. It transmits into the cranium, the internal carotid artery, and the carotid plexus of nerves. Sympathetics to the head also pass through the carotid canal. They have several motor functions: raise the eyelid (superior tarsal muscle), dilate pupil, innervate sweat glands of face and scalp and constricts blood vessels in head[WP]. FMA:55805|Wikipedia:Carotid_canal|EMAPA:18707 hp.json canalis caroticus|canalis caroticus http://purl.obolibrary.org/obo/UBERON_0006668 HP:0100945 biolink:PhenotypicFeature Sclerosis of the 1st metatarsal UMLS:C4021913 hp.json Increased bone density in the 1st long bone of foot http://purl.obolibrary.org/obo/HP_0100945 HP:0002352 biolink:PhenotypicFeature Leukoencephalopathy This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. SNOMEDCT_US:22811006|UMLS:C0270612|MSH:D056784 hp.json http://purl.obolibrary.org/obo/HP_0002352 HP:0100946 biolink:PhenotypicFeature Sclerosis of proximal toe phalanx An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020925 hp.json Increased bone density in innermost toe bone|Sclerosis of the proximal phalanges of the toes http://purl.obolibrary.org/obo/HP_0100946 HP:0100943 biolink:PhenotypicFeature Sclerosis of the proximal phalanx of the hallux UMLS:C4021915 hp.json Increased bone density in the innermost bone of the big toe http://purl.obolibrary.org/obo/HP_0100943 HP:0002350 biolink:PhenotypicFeature Cerebellar cyst UMLS:C1847762 hp.json Cerebellar cysts http://purl.obolibrary.org/obo/HP_0002350 HP:0100944 biolink:PhenotypicFeature Sclerosis of the distal phalanx of the hallux UMLS:C4021914 hp.json Increased bone density in the outermost bone of the big toe http://purl.obolibrary.org/obo/HP_0100944 UBERON:0006664 biolink:AnatomicalEntity greater palatine artery The greater palatine artery is a terminal branch of the maxillary artery. It branches off of the maxillary artery in the pterygopalatine fossa and descends through the greater palatine foramen along with the greater palatine nerve and supplies the hard palate. It also anastomosis through the incisive canal with the sphenopalatine artery to supply the nasal cavity. EMAPA:18754|FMA:49795|MA:0001993 hp.json arteria palatina major|major palatine artery http://purl.obolibrary.org/obo/UBERON_0006664 human_reference_atlas HP:0100952 biolink:PhenotypicFeature Enlarged sylvian cistern An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). UMLS:C4020921 hp.json Enlarged lateral fissure|Enlarged lateral sulcus|Enlarged sylvian fissure http://purl.obolibrary.org/obo/HP_0100952 HP:0100953 biolink:PhenotypicFeature Enlarged interhemispheric fissure UMLS:C4020920 hp.json Enlarged longitudinal cerebral fissure|Enlarged great longitudinal fissure|Enlarged longitudinal fissure http://purl.obolibrary.org/obo/HP_0100953 HP:0100950 biolink:PhenotypicFeature Decreased 3-hydroxyacyl-CoA dehydrogenase level SNOMEDCT_US:237999008|MSH:C566945|UMLS:C1969443 hp.json Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency|Long chain 3 hydroxyacyl coA dehydrogenase deficiency|Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency http://purl.obolibrary.org/obo/HP_0100950 HP:0100951 biolink:PhenotypicFeature Enlarged fossa interpeduncularis UMLS:C4020922 hp.json Enlarged interpeduncular cistern|Enlarged basal cistern http://purl.obolibrary.org/obo/HP_0100951 HP:0002366 biolink:PhenotypicFeature Abnormal lower motor neuron morphology Any structural anomaly of the lower motor neuron. UMLS:C1865412 hp.json Lower motor neuron disease|Lower motor neuron signs|Lower motor neuron manifestations http://purl.obolibrary.org/obo/HP_0002366 UBERON:0006652 biolink:AnatomicalEntity muscular layer of vagina FMA:19976|EMAPA:30997 hp.json vaginal muscularis|tunica muscularis vaginae|muscular coat of vagina http://purl.obolibrary.org/obo/UBERON_0006652 HP:0002367 biolink:PhenotypicFeature Visual hallucinations Visual perceptions that are not elicited by a corresponding stimulus from the outside world. UMLS:C0233763|MSH:D006212|SNOMEDCT_US:64269007 hp.json Visual hallucinations http://purl.obolibrary.org/obo/HP_0002367 HP:0002365 biolink:PhenotypicFeature Hypoplasia of the brainstem Underdevelopment of the brainstem. UMLS:C1842688 hp.json Underdeveloped brainstem|Small brainstem|Brainstem hypoplasia|Hypoplastic brain stem|Hypoplastic brainstem http://purl.obolibrary.org/obo/HP_0002365 GO:0150147 biolink:BiologicalProcess cell-cell junction disassembly The disaggregation of a cell-cell junction into its constituent components. hp.json http://purl.obolibrary.org/obo/GO_0150147 GO:0150146 biolink:BiologicalProcess cell junction disassembly The disaggregation of a cell junction into its constituent components. hp.json http://purl.obolibrary.org/obo/GO_0150146 UBERON:0006658 biolink:AnatomicalEntity interphalangeal joint A joint that connects one phalanx to another along a proximodistal axis. FMA:42765|EMAPA:37884|galen:InterphalangealJoint|NCIT:C101527 hp.json inter-phalanx joint|inter-phalangeal joint http://purl.obolibrary.org/obo/UBERON_0006658 pheno_slim HP:0100958 biolink:PhenotypicFeature Narrow foramen obturatorium Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis. UMLS:C4021910 hp.json http://purl.obolibrary.org/obo/HP_0100958 UBERON:0006657 biolink:AnatomicalEntity glenoid fossa Anatomical cavity for the proximal articular surface of the proximal limb or fin element with the scapulocoracoid or equivalent structure. AAO:0000749|FMA:23275|EMAPA:25122|UMLS:C1261046|NCIT:C32682 hp.json glenoid cavity|cavitus glenoidalis|cavitas glenoidalis|glenoid facet|cavitas glenoidalis scapulae|glenoid cavity|glenoid cavity of scapula http://purl.obolibrary.org/obo/UBERON_0006657 pheno_slim HP:0100959 biolink:PhenotypicFeature Dense metaphyseal bands Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex. UMLS:C4020919 hp.json Transverse metaphyseal bands|Dense metaphyseal lines http://purl.obolibrary.org/obo/HP_0100959 HP:0002362 biolink:PhenotypicFeature Shuffling gait A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. SNOMEDCT_US:43005009|MSH:D020233|UMLS:C0231688 hp.json Shuffled walk http://purl.obolibrary.org/obo/HP_0002362 UBERON:0006655 biolink:AnatomicalEntity septum of scrotum An incomplete wall of connective tissue and nonstriated muscle (dartos fascia) dividing the scrotum into two sacs, each containing a testis. EMAPA:29745|FMA:20729 hp.json septum scroti|scrotal septum http://purl.obolibrary.org/obo/UBERON_0006655 HP:0100957 biolink:PhenotypicFeature Abnormal renal medulla morphology Any structural abnormality of the medulla of the kidney. UMLS:C4021911 hp.json Abnormality of the renal medulla http://purl.obolibrary.org/obo/HP_0100957 HP:0002363 biolink:PhenotypicFeature Abnormal brainstem morphology An anomaly of the brainstem. UMLS:C1850601 hp.json Abnormal shape of brainstem|Abnormality of the brainstem|Abnormality of brainstem morphology http://purl.obolibrary.org/obo/HP_0002363 HP:0002360 biolink:PhenotypicFeature Sleep disturbance An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. SNOMEDCT_US:53888004|UMLS:C0037317 hp.json Trouble sleeping|Difficulty sleeping|Sleep disturbances|Sleep dysfunction http://purl.obolibrary.org/obo/HP_0002360 HP:0100954 biolink:PhenotypicFeature Open operculum Underdevelopment of the operculum. UMLS:C2675973 hp.json http://purl.obolibrary.org/obo/HP_0100954 HP:0100955 biolink:PhenotypicFeature Giant cell granuloma of mandible UMLS:C4021912 hp.json http://purl.obolibrary.org/obo/HP_0100955 HP:0002361 biolink:PhenotypicFeature Psychomotor deterioration Loss of previously present mental and motor abilities. UMLS:C1836842 hp.json Psychomotor degeneration http://purl.obolibrary.org/obo/HP_0002361 UBERON:0006653 biolink:AnatomicalEntity glans clitoris Erectile tissue at the end of the clitoris, which is continuous with the intermediate part of the vestibulovaginal bulbs[BTO]. The clitoral glans (glans clitoridis) is an external portion of the clitoris[WP]. EMAPA:30829|EMAPA:19170|FMA:19999|UMLS:C0227769|NCIT:C32681|BTO:0003117 hp.json clitoris glans|glans clitoris|glans clitoridis|glans of clitoris http://purl.obolibrary.org/obo/UBERON_0006653 HP:0100963 biolink:PhenotypicFeature Hyperesthesia Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. UMLS:C0020453|MSH:D006941|SNOMEDCT_US:14151009 hp.json Hyperaesthesia http://purl.obolibrary.org/obo/HP_0100963 HP:0100961 biolink:PhenotypicFeature Enlarged hippocampus Increase in size of the hippocampus. UMLS:C4021908 hp.json http://purl.obolibrary.org/obo/HP_0100961 HP:0100962 biolink:PhenotypicFeature Shyness MSH:D012792|UMLS:C0037020 hp.json Shyness http://purl.obolibrary.org/obo/HP_0100962 HP:0100960 biolink:PhenotypicFeature Lateral ventricular asymmetry Abnormal difference in size between the left and right lateral cerebral ventricles. UMLS:C4021909 hp.json Asymmetric ventricles|Asymmetric lateral ventricles|Cerebral lateral ventricular asymmetry http://purl.obolibrary.org/obo/HP_0100960 NCBITaxon:6236 biolink:OrganismalEntity Rhabditida GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_6236 NCBITaxon:6237 biolink:OrganismalEntity Caenorhabditis GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_6237 GO:0150111 biolink:BiologicalProcess regulation of transepithelial transport Any process that modulates the frequency, rate or extent of transepithelial transport. hp.json http://purl.obolibrary.org/obo/GO_0150111 GO:0150110 biolink:BiologicalProcess negative regulation of cholesterol esterification Any process that stops, prevents or reduces the frequency, rate or extent of cholesterol esterification. hp.json http://purl.obolibrary.org/obo/GO_0150110 UBERON:0004066 biolink:AnatomicalEntity frontonasal prominence The unpaired embryonic prominence that is formed by the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout. VHOG:0001319|EMAPA:16681|FMA:293101|UMLS:C1517321|NCIT:C34182|EHDAA2:0000578|EHDAA:4778 hp.json prominentia frontonasalis|forebrain prominence|embryonic frontonasal prominence|frontonasal process|frontonasal mass http://purl.obolibrary.org/obo/UBERON_0004066 pheno_slim GO:0150119 biolink:BiologicalProcess negative regulation of protein localization to cell-cell junction Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cell-cell junction. hp.json negative regulation of protein localisation to cell-cell junction http://purl.obolibrary.org/obo/GO_0150119 UBERON:0004067 biolink:AnatomicalEntity lateral nasal prominence The lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it. EHDAA:4786|EMAPA:16805|FMA:295864|EHDAA2:0000916 hp.json latero-nasal process|prominentia nasalis lateralis|lateral nasal swelling|lateral nasal process http://purl.obolibrary.org/obo/UBERON_0004067 pheno_slim UBERON:0004064 biolink:AnatomicalEntity neural tube basal plate The region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons. NCIT:C34111|AAO:0010561|Wikipedia:Basal_plate_(neural_tube)|EFO:0001904|UMLS:C1511061|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1372 hp.json ventral part of neural tube|basal plate of neural tube|motor part of neural tube|basal plate of neural tube|basal plate|spinal cord basal plate http://purl.obolibrary.org/obo/UBERON_0004064 pheno_slim|efo_slim UBERON:0004062 biolink:AnatomicalEntity neural tube marginal layer The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter. EMAPA:17151|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1368 hp.json brain marginal zone|neural tube marginal zone http://purl.obolibrary.org/obo/UBERON_0004062 pheno_slim UBERON:0004060 biolink:AnatomicalEntity neural tube ventricular layer The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium. EMAPA:17152|EMAPA_RETIRED:16783|MA:0003193|EMAPA:35362 hp.json neural tube ependymal zone|neural tube ventricular germinal zone|ependymal layer|neural tube ependymal layer|neural tube ventricular zone http://purl.obolibrary.org/obo/UBERON_0004060 pheno_slim UBERON:0004061 biolink:AnatomicalEntity neural tube mantle layer The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1367|EMAPA:17148|EMAPA:35360 hp.json neural tube intermediate zone|neural tube intermediate zone|future brain marginal layer http://purl.obolibrary.org/obo/UBERON_0004061 pheno_slim NCBITaxon:6243 biolink:OrganismalEntity Rhabditidae GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_6243 UBERON:0004068 biolink:AnatomicalEntity medial nasal prominence The central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it. VHOG:0000804|EMAPA:16808|EHDAA2:0001076|EHDAA:4792|FMA:295858 hp.json nasomedial prominence|medial-nasal process|prominentia nasalis medialis|medial nasal swelling|medial nasal process http://purl.obolibrary.org/obo/UBERON_0004068 pheno_slim UBERON:0018692 biolink:AnatomicalEntity dorsal side of post-anal tail hp.json http://purl.obolibrary.org/obo/UBERON_0018692 UBERON:0018691 biolink:AnatomicalEntity ventral side of post-anal tail hp.json http://purl.obolibrary.org/obo/UBERON_0018691 UBERON:0004053 biolink:AnatomicalEntity external male genitalia The external masculine genital organs, including the penis and scrotum. EMAPA:30977|galen:MaleExternalGenitalia|FMA:45642|BTO:0003097 hp.json external male genital organ|male external genitalia|organa genitalia masculina externa http://purl.obolibrary.org/obo/UBERON_0004053 organ_slim|pheno_slim UBERON:0004054 biolink:AnatomicalEntity internal male genitalia The internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands. FMA:45655|BTO:0003096 hp.json organa genitalia masculina interna|internal male genital organ|male internal genitalia http://purl.obolibrary.org/obo/UBERON_0004054 organ_slim|pheno_slim UBERON:0004058 biolink:AnatomicalEntity biliary ductule One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP]. ZFA:0005164|BTO:0002840|TAO:0005164|EMAPA:37440 hp.json cholangiole|biliary ductule|bile capillary|ductuli biliferi|biliary ductule|bile ductule|terminal cholangiole http://purl.obolibrary.org/obo/UBERON_0004058 pheno_slim PR:P26952 biolink:Protein interleukin-3 receptor subunit alpha (mouse) An interleukin-3 receptor class 2 alpha chain that is encoded in the genome of mouse. UniProtKB:P26952 hp.json IL-3RA (mouse)|IL-3 receptor subunit alpha (mouse)|Sut-1|mIL3RA|CD123 (mouse)|interleukin-3 receptor class II alpha chain (mouse)|Il3ra|IL-3R subunit alpha (mouse)|IL-3R-alpha (mouse) http://purl.obolibrary.org/obo/PR_P26952 UBERON:0004042 biolink:AnatomicalEntity spleen secondary B follicle The nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp. EMAPA:37961 hp.json secondary spleen B cell follicle|splenic secondary B cell follicle http://purl.obolibrary.org/obo/UBERON_0004042 pheno_slim|human_reference_atlas HP:0002398 biolink:PhenotypicFeature Degeneration of anterior horn cells UMLS:C1843505 hp.json Spinal cord anterior horn cell degeneration|Loss of spinal cord anterior horn cells|Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord|Anterior horn cell loss|Degeneration of spinal cord anterior horn cells|Progressive loss of anterior horn cells http://purl.obolibrary.org/obo/HP_0002398 UBERON:0004040 biolink:AnatomicalEntity cortical intermediate zone The region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone. EMAPA:32712|EMAPA:17545 hp.json cortical mantle layer|cerebral cortex mantle zone|IZ|cerebral cortex mantle layer http://purl.obolibrary.org/obo/UBERON_0004040 pheno_slim UBERON:0004041 biolink:AnatomicalEntity spleen primary B follicle The nodules of small undifferentiated B lymphocytes and follicular dendritic cells located in the spleen white pulp. EMAPA:37960|FMA:15843 hp.json primary spleen B cell follicle http://purl.obolibrary.org/obo/UBERON_0004041 pheno_slim|human_reference_atlas HP:0002392 biolink:PhenotypicFeature EEG with polyspike wave complexes The presence of complexes of repetitive spikes and waves in EEG. UMLS:C4021757 hp.json EEG: spike and multispike waves, 3-4 hz http://purl.obolibrary.org/obo/HP_0002392 HP:0002390 biolink:PhenotypicFeature Spinal arteriovenous malformation UMLS:C0348023|SNOMEDCT_US:261482004 hp.json http://purl.obolibrary.org/obo/HP_0002390 HP:0002395 biolink:PhenotypicFeature Lower limb hyperreflexia UMLS:C1836696 hp.json Brisk lower extremity reflexes|Leg hyperreflexia|Overactive lower leg reflex|Increased deep tendon reflexes in the lower limbs|Hyperreflexia in the lower limbs|Hyperreflexia in lower limbs http://purl.obolibrary.org/obo/HP_0002395 HP:0002396 biolink:PhenotypicFeature Cogwheel rigidity A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). SNOMEDCT_US:55630000|UMLS:C0151564|MSH:D009127 hp.json http://purl.obolibrary.org/obo/HP_0002396 UBERON:0018674 biolink:AnatomicalEntity heart vasculature An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. ZFA:0005811|FMA:73747 hp.json cardiac vasculature http://purl.obolibrary.org/obo/UBERON_0018674 UBERON:0018673 biolink:AnatomicalEntity neck of fibula FMA:35508|EMAPA:37891 hp.json fibula neck|fibular neck http://purl.obolibrary.org/obo/UBERON_0018673 UBERON:0018679 biolink:AnatomicalEntity thoracic splanchnic nerve Thoracic splanchnic nerves are splanchnic nerves that arise from the sympathetic trunk in the thorax and travel inferiorly to provide sympathetic innervation to the abdomen. The nerves contain preganglionic sympathetic and general visceral afferent fibers. FMA:6280 hp.json http://purl.obolibrary.org/obo/UBERON_0018679 GO:0150107 biolink:BiologicalProcess positive regulation of protein localization to cell-cell junction Any process that activates or increases the frequency, rate or extent of protein localization to cell-cell junction. hp.json http://purl.obolibrary.org/obo/GO_0150107 UBERON:0006694 biolink:AnatomicalEntity cerebellum vasculature A vasculature that is part of a cerebellum. FMA:268519 hp.json http://purl.obolibrary.org/obo/UBERON_0006694 GO:0150106 biolink:BiologicalProcess regulation of protein localization to cell-cell junction Any process that modulates the frequency, rate or extent of protein localization to cell-cell junction. hp.json http://purl.obolibrary.org/obo/GO_0150106 GO:0044815 biolink:CellularComponent DNA packaging complex A protein complex that plays a role in the process of DNA packaging. hp.json http://purl.obolibrary.org/obo/GO_0044815 UBERON:0006692 biolink:AnatomicalEntity vertebral canal A conduit enclosed within the vertebral foramen of the vertebrae through which the spinal cord passes. GAID:242|UMLS:C1522467|NCIT:C34221|UMLS:C0037922|AAO:0000693|FMA:9680|NCIT:C33869 hp.json vertebral canal|spinal cavity|neural canal|c. vertebralis|spinal canal|foramen vertebrale http://purl.obolibrary.org/obo/UBERON_0006692 pheno_slim GO:0150105 biolink:BiologicalProcess protein localization to cell-cell junction A process in which a protein is transported to, or maintained, in a location within a cell-cell junction. hp.json http://purl.obolibrary.org/obo/GO_0150105 GO:0150102 biolink:BiologicalProcess negative regulation of monocyte activation Any process that stops, prevents or reduces the frequency, rate or extent of monocyte activation. hp.json repression of monocyte activation http://purl.obolibrary.org/obo/GO_0150102 NCBITaxon:6231 biolink:OrganismalEntity Nematoda GC_ID:1 hp.json roundworms|roundworm|nematodes|Nemata|nematodes|nematode http://purl.obolibrary.org/obo/NCBITaxon_6231 UBERON:0004035 biolink:AnatomicalEntity cortical subplate The transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate. DHBA:10522|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=3233|EMAPA:32703|PBA:294021932|Wikipedia:Subplate|https://upload.wikimedia.org/wikipedia/commons/thumb/a/ac/Corticogenesis_in_a_wild-type_mouse_with_captions_in_english_copy.png/360px-Corticogenesis_in_a_wild-type_mouse_with_captions_in_english_copy.png hp.json SP|cerebral cortex subplate|subplate zone|subplate http://purl.obolibrary.org/obo/UBERON_0004035 pheno_slim GO:0032838 biolink:CellularComponent plasma membrane bounded cell projection cytoplasm All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. hp.json http://purl.obolibrary.org/obo/GO_0032838 HGNC:3012 biolink:Gene DPYD (human) A protein coding gene DPYD in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3012 HP:0004959 biolink:PhenotypicFeature Descending thoracic aorta aneurysm An abnormal localized widening (dilatation) of the descending thoracic aorta. Fyler:2754|UMLS:C4025266 hp.json Dilatation of the descending thoracic aorta http://purl.obolibrary.org/obo/HP_0004959 GO:0032839 biolink:CellularComponent dendrite cytoplasm All of the contents of a dendrite, excluding the surrounding plasma membrane. hp.json dendritic cytoplasm http://purl.obolibrary.org/obo/GO_0032839 HP:0004952 biolink:PhenotypicFeature Pulmonary arteriovenous fistulas A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed. MSH:C562404|SNOMEDCT_US:111289009|UMLS:C0155675 hp.json http://purl.obolibrary.org/obo/HP_0004952 HP:0004950 biolink:PhenotypicFeature Peripheral arterial stenosis Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. MSH:D016491|SNOMEDCT_US:399957001|SNOMEDCT_US:400047006|UMLS:C0085096|MSH:D058729|UMLS:C1704436 hp.json Peripheral artery disease|Peripheral artery occlusive disease|Occlusive arterial disease|Occlusive vascular disease|Peripheral vascular disease|Arterial disease of legs http://purl.obolibrary.org/obo/HP_0004950 HP:0004955 biolink:PhenotypicFeature Generalized arterial tortuosity Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. UMLS:C3279191|UMLS:C1836651 hp.json Generalised twisted arteries|Arterial tortuosity, generalized|Arterial tortuosity, general|Generalized twisted arteries|Generalised arterial tortuosity|Arterial tortuosity, generalised http://purl.obolibrary.org/obo/HP_0004955 HP:0004954 biolink:PhenotypicFeature obsolete Dilatation of the descending aorta hp.json http://purl.obolibrary.org/obo/HP_0004954 HP:0004953 biolink:PhenotypicFeature obsolete Dilatation of abdominal aorta hp.json http://purl.obolibrary.org/obo/HP_0004953 GO:0019852 biolink:BiologicalProcess L-ascorbic acid metabolic process The chemical reactions and pathways involving L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species. hp.json vitamin C metabolic process|ascorbate metabolic process|L-ascorbic acid metabolism|ascorbate metabolism|vitamin C metabolism http://purl.obolibrary.org/obo/GO_0019852 UBERON:0006603 biolink:AnatomicalEntity presumptive mesoderm Presumptive structure of the blastula that will develop into mesoderm. ZFA:0001377|TAO:0001377|AAO:0000476|EFO:0003467 hp.json http://purl.obolibrary.org/obo/UBERON_0006603 efo_slim UBERON:0006601 biolink:AnatomicalEntity presumptive ectoderm Presumptive structure of the blastula that will develop into ectoderm. ZFA:0001376|TAO:0001376|XAO:0004132|EFO:0003466|AAO:0000470 hp.json presumptive epidermis http://purl.obolibrary.org/obo/UBERON_0006601 efo_slim UBERON:0006600 biolink:AnatomicalEntity presumptive enteric nervous system TAO:0001334|AAO:0000472|EFO:0003462|ZFA:0001334 hp.json future enteric nervous system http://purl.obolibrary.org/obo/UBERON_0006600 efo_slim HP:0002308 biolink:PhenotypicFeature Chiari malformation Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. MSH:D001139|UMLS:C0003803|SNOMEDCT_US:253184003 hp.json Arnold-Chiari malformation http://purl.obolibrary.org/obo/HP_0002308 HP:0004969 biolink:PhenotypicFeature Peripheral pulmonary artery stenosis Stenosis of a peripheral branch of the pulmonary artery. UMLS:C0345030|SNOMEDCT_US:253631001 hp.json Peripheral pulmonic stenosis|Narrowing of peripheral lung artery|peripheral pulmonary stenosis http://purl.obolibrary.org/obo/HP_0004969 HP:0002307 biolink:PhenotypicFeature Drooling Habitual flow of saliva out of the mouth. UMLS:C0037036|UMLS:C0013132|MSH:D012798|SNOMEDCT_US:275295002|SNOMEDCT_US:53827007|SNOMEDCT_US:62718007 hp.json Dribbling|Sialorrhea|Drooling http://purl.obolibrary.org/obo/HP_0002307 HP:0004968 biolink:PhenotypicFeature Recurrent cerebral hemorrhage Recurrent bleeding into the parenchyma of the brain. UMLS:C4025264 hp.json Recurrent hemorrhagic stroke|Recurrent cerebral haemorrhage http://purl.obolibrary.org/obo/HP_0004968 HP:0004963 biolink:PhenotypicFeature Calcification of the aorta Calcification, that is, pathological deposition of calcium salts in the aorta. UMLS:C1096249 hp.json http://purl.obolibrary.org/obo/HP_0004963 HP:0002300 biolink:PhenotypicFeature Mutism MSH:D009155|SNOMEDCT_US:88052002|UMLS:C0026884 hp.json Inability to speak|Muteness http://purl.obolibrary.org/obo/HP_0002300 HP:0002301 biolink:PhenotypicFeature Hemiplegia Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. UMLS:C0018991|MSH:D006429|SNOMEDCT_US:50582007 hp.json Paralysis on one side of body http://purl.obolibrary.org/obo/HP_0002301 HP:0004962 biolink:PhenotypicFeature Thoracic aorta calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta. UMLS:C1969292 hp.json http://purl.obolibrary.org/obo/HP_0004962 HP:0004961 biolink:PhenotypicFeature Pulmonary artery sling An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum. UMLS:C1856123 hp.json http://purl.obolibrary.org/obo/HP_0004961 HP:0004960 biolink:PhenotypicFeature Absent pulmonary artery A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. SNOMEDCT_US:86252004|UMLS:C0265905 hp.json Absent lung artery|Missing pulmonary artery http://purl.obolibrary.org/obo/HP_0004960 HP:0002304 biolink:PhenotypicFeature Akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. SNOMEDCT_US:33994004|UMLS:C0085623 hp.json http://purl.obolibrary.org/obo/HP_0002304 GO:0019867 biolink:CellularComponent outer membrane The external membrane of Gram-negative bacteria or certain organelles such as mitochondria and chloroplasts; freely permeable to most ions and metabolites. hp.json http://purl.obolibrary.org/obo/GO_0019867 goslim_metagenomics HP:0004966 biolink:PhenotypicFeature Medial calcification of large arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. UMLS:C4025265 hp.json http://purl.obolibrary.org/obo/HP_0004966 HP:0002305 biolink:PhenotypicFeature Athetosis A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. UMLS:C1845265|SNOMEDCT_US:58593005|SNOMEDCT_US:44913001|MSH:D001264|UMLS:C0004158 hp.json Involuntary writhing movements in fingers, hands, toes, and feet|Athetoid movements|Involuntary writhing movements http://purl.obolibrary.org/obo/HP_0002305 GO:0019866 biolink:CellularComponent organelle inner membrane The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites. hp.json http://purl.obolibrary.org/obo/GO_0019866 HP:0004964 biolink:PhenotypicFeature Pulmonary arterial medial hypertrophy Increase in mass of the tunica media of the arteries in the pulmonary circulation. UMLS:C1504382 hp.json Hypertrophy of the pulmonary artery wall http://purl.obolibrary.org/obo/HP_0004964 HP:0004938 biolink:PhenotypicFeature Tortuous cerebral arteries Excessive bending, twisting, and winding of a cerebral artery. UMLS:C1836791 hp.json Twisted cerebral arteries http://purl.obolibrary.org/obo/HP_0004938 HP:0004937 biolink:PhenotypicFeature Pulmonary artery aneurysm An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. SNOMEDCT_US:194892009|UMLS:C0155676 hp.json http://purl.obolibrary.org/obo/HP_0004937 HP:0004936 biolink:PhenotypicFeature Venous thrombosis Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. SNOMEDCT_US:111293003|MSH:D020246|UMLS:C0042487 hp.json Blood clot in vein http://purl.obolibrary.org/obo/HP_0004936 HP:0004935 biolink:PhenotypicFeature Pulmonary artery atresia A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. UMLS:C0265908|SNOMEDCT_US:204443008|SNOMEDCT_US:10930001 hp.json Pulmonary atresia http://purl.obolibrary.org/obo/HP_0004935 HP:0004930 biolink:PhenotypicFeature Abnormality of the pulmonary vasculature UMLS:C4025271 hp.json Abnormality of the lung blood vessels http://purl.obolibrary.org/obo/HP_0004930 HP:0004934 biolink:PhenotypicFeature Vascular calcification Abnormal calcification of the vasculature. MSH:D061205|SNOMEDCT_US:237897009|UMLS:C0342649 hp.json http://purl.obolibrary.org/obo/HP_0004934 HP:0004933 biolink:PhenotypicFeature Ascending aortic dissection A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. UMLS:C1836653 hp.json Type A aortic dissection http://purl.obolibrary.org/obo/HP_0004933 HP:0004931 biolink:PhenotypicFeature Arteriosclerosis of small cerebral arteries Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. UMLS:C4025270|UMLS:C4280505 hp.json Hardened artery wall in small cerebral arteries http://purl.obolibrary.org/obo/HP_0004931 HP:0004948 biolink:PhenotypicFeature Vascular tortuosity Abnormal twisting of arteries or veins. UMLS:C2673776 hp.json Twisted blood vessels http://purl.obolibrary.org/obo/HP_0004948 HP:0004947 biolink:PhenotypicFeature Arteriovenous fistula An abnormal connection between an artery and vein. SNOMEDCT_US:439470001|SNOMEDCT_US:128617001|UMLS:C0003855|MSH:D001164 hp.json Arteriovenous fistulas http://purl.obolibrary.org/obo/HP_0004947 HP:0004941 biolink:PhenotypicFeature Extrahepatic portal hypertension Increased pressure in the pre-hepatic portal vein. UMLS:C4025268 hp.json http://purl.obolibrary.org/obo/HP_0004941 HP:0004940 biolink:PhenotypicFeature Generalized arterial calcification Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. UMLS:C4025269 hp.json Generalised arterial calcification http://purl.obolibrary.org/obo/HP_0004940 HP:0004945 biolink:PhenotypicFeature Extracranial internal carotid artery dissection A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall. UMLS:C4025267 hp.json http://purl.obolibrary.org/obo/HP_0004945 HP:0004944 biolink:PhenotypicFeature Dilatation of the cerebral artery The presence of a localized dilatation or ballooning of a cerebral artery. UMLS:C0751003|SNOMEDCT_US:128608001|UMLS:C1290398|MSH:D002532 hp.json Intracranial aneurysm|Brain aneurysm|Cerebral aneurysm|Cerebral artery aneurysm http://purl.obolibrary.org/obo/HP_0004944 HP:0004943 biolink:PhenotypicFeature Accelerated atherosclerosis Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. UMLS:C4280504|UMLS:C1849618 hp.json Accelerated plaque build-up in arteries http://purl.obolibrary.org/obo/HP_0004943 HP:0004942 biolink:PhenotypicFeature Aortic aneurysm Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. UMLS:C0003486|Fyler:2301|Fyler:2708|SNOMEDCT_US:67362008|MSH:D001014 hp.json Bulge in wall of large artery that carries blood away from heart|Aortic dilatation http://purl.obolibrary.org/obo/HP_0004942 HP:0002339 biolink:PhenotypicFeature Abnormal caudate nucleus morphology Any structural abnormality of the caudate nucleus. UMLS:C4025711 hp.json Abnormality of the caudate nucleus http://purl.obolibrary.org/obo/HP_0002339 UBERON:0018623 biolink:AnatomicalEntity lower secondary incisor tooth FMA:55713 hp.json permanent lower incisor tooth|lower permanent incisor tooth|mandibular secondary incisor tooth http://purl.obolibrary.org/obo/UBERON_0018623 UBERON:0018621 biolink:AnatomicalEntity upper canine tooth hp.json upper cuspid|maxillary canine tooth|upper canine http://purl.obolibrary.org/obo/UBERON_0018621 UBERON:0018622 biolink:AnatomicalEntity lower canine tooth hp.json lower cuspid|lower canine|mandibular canine tooth http://purl.obolibrary.org/obo/UBERON_0018622 HP:0002333 biolink:PhenotypicFeature Motor deterioration Loss of previously present motor (i.e., movement) abilities. UMLS:C1866284 hp.json Progressive degeneration of movement http://purl.obolibrary.org/obo/HP_0002333 HP:0002334 biolink:PhenotypicFeature Abnormal cerebellar vermis morphology An anomaly of the vermis of cerebellum. UMLS:C4025712 hp.json Abnormality of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0002334 HP:0002331 biolink:PhenotypicFeature Recurrent paroxysmal headache Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. UMLS:C1854337 hp.json http://purl.obolibrary.org/obo/HP_0002331 GO:0019814 biolink:CellularComponent immunoglobulin complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json antibody http://purl.obolibrary.org/obo/GO_0019814 goslim_pir HP:0004993 biolink:PhenotypicFeature Slender long bones with narrow diaphyses Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. UMLS:C2675547 hp.json Slender long bones with narrow shaft http://purl.obolibrary.org/obo/HP_0004993 HP:0002332 biolink:PhenotypicFeature Lack of peer relationships UMLS:C1845337 hp.json Lack of peer relationships http://purl.obolibrary.org/obo/HP_0002332 HP:0002335 biolink:PhenotypicFeature Agenesis of cerebellar vermis Congenital absence of the vermis of cerebellum. MSH:C536293|SNOMEDCT_US:253175003|UMLS:C0431399|SNOMEDCT_US:716997004 hp.json Cerebellar vermis aplasia|Vermian agenesis http://purl.obolibrary.org/obo/HP_0002335 HP:0004997 biolink:PhenotypicFeature Multicentric ossification of proximal humeral epiphyses UMLS:C1857192 hp.json http://purl.obolibrary.org/obo/HP_0004997 UBERON:0006648 biolink:AnatomicalEntity adventitia of seminal vesicle An adventitia that is part of a seminal vesicle. FMA:19403|EMAPA:29775 hp.json tunica adventitia glandulae vesiculosae|tunica adventitia (vesicula seminalis)|seminal vesicle adventitia|adventitia of seminal gland http://purl.obolibrary.org/obo/UBERON_0006648 UBERON:0006647 biolink:AnatomicalEntity adventitia of ductus deferens An adventitia that is part of a vas deferens. EMAPA:29767|FMA:19238 hp.json deferent ductal adventitia|adventitia of deferent duct|adventitia of ductus deferens|adventitia of vas deferens|tunica adventitia ductus deferentis|tunica adventitia (ductus deferens) http://purl.obolibrary.org/obo/UBERON_0006647 UBERON:0006646 biolink:AnatomicalEntity muscle layer of epididymis A muscle layer that is part of a epididymis. FMA:19149|EMAPA:30747 hp.json http://purl.obolibrary.org/obo/UBERON_0006646 UBERON:0006645 biolink:AnatomicalEntity adventitia of epididymis An adventitia that is part of a epididymis. EMAPA:30443|FMA:19136 hp.json epididymis adventitia http://purl.obolibrary.org/obo/UBERON_0006645 HP:0002330 biolink:PhenotypicFeature Paroxysmal drowsiness Attacks of disabling daytime drowsiness and low alertness. UMLS:C4025713 hp.json http://purl.obolibrary.org/obo/HP_0002330 HP:0004991 biolink:PhenotypicFeature Rhizomelic arm shortening Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). UMLS:C1969532 hp.json http://purl.obolibrary.org/obo/HP_0004991 HP:0004990 biolink:PhenotypicFeature Epiphyseal streaking UMLS:C1858039 hp.json http://purl.obolibrary.org/obo/HP_0004990 UBERON:0006642 biolink:AnatomicalEntity muscle layer of oviduct A muscle layer that is part of a fallopian tube. SCTID:259488000|FMA:18318|EMAPA:29046 hp.json muscle layer of oviduct|muscular coat of uterine tube|tunica muscularis tubae uterinae|muscle layer of fallopian tube|muscularis of uterine tube|tunica muscularis (Tuba uterina)|muscle layer of uterine tube|uterine tubal muscularis|muscular layer of uterine tube http://purl.obolibrary.org/obo/UBERON_0006642 human_reference_atlas UBERON:0018616 biolink:AnatomicalEntity primary upper tooth hp.json deciduous upper tooth http://purl.obolibrary.org/obo/UBERON_0018616 UBERON:0018617 biolink:AnatomicalEntity primary lower tooth hp.json deciduous lower tooth http://purl.obolibrary.org/obo/UBERON_0018617 UBERON:0018614 biolink:AnatomicalEntity permanent lower tooth hp.json secondary lower tooth http://purl.obolibrary.org/obo/UBERON_0018614 CHEBI:43474 biolink:ChemicalSubstance hydrogenphosphate A phosphate ion that is the conjugate base of dihydrogenphosphate. PDBeChem:PO4|PDBeChem:PI|Gmelin:1998|MolBase:1628 hp.json hydrogentetraoxophosphate(2-)|hydrogenphosphate|hydrogen phosphate|phosphate|[P(OH)O3](2-)|HYDROGENPHOSPHATE ION|hydroxidotrioxidophosphate(2-)|INORGANIC PHOSPHATE GROUP|HPO4(2-)|[PO3(OH)](2-)|hydrogen(tetraoxidophosphate)(2-)|hydrogentetraoxophosphate(V) http://purl.obolibrary.org/obo/CHEBI_43474 3_STAR UBERON:0018613 biolink:AnatomicalEntity secondary upper tooth hp.json permanent upper tooth http://purl.obolibrary.org/obo/UBERON_0018613 HP:0002344 biolink:PhenotypicFeature Progressive neurologic deterioration UMLS:C1854838 hp.json Progressive neurodegeneration|Neurologic deterioration|Neurologic deterioration, progressive|Progressive mental deterioration|Worsening neurological symptoms http://purl.obolibrary.org/obo/HP_0002344 HP:0002345 biolink:PhenotypicFeature Action tremor A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. MSH:D014202|UMLS:C0234376|UMLS:C4020853|SNOMEDCT_US:30721006 hp.json Ataxic tremor http://purl.obolibrary.org/obo/HP_0002345 HP:0002342 biolink:PhenotypicFeature Intellectual disability, moderate Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. SNOMEDCT_US:61152003|UMLS:C0026351 hp.json Moderate mental retardation|IQ between 34 and 49|Mental retardation, moderate|Moderate mental deficiency http://purl.obolibrary.org/obo/HP_0002342 GO:0019825 biolink:MolecularActivity oxygen binding Binding to oxygen (O2). hp.json cytochrome P450|cytochrome P450 activity http://purl.obolibrary.org/obo/GO_0019825 goslim_plant|goslim_pir HP:0002343 biolink:PhenotypicFeature Normal pressure hydrocephalus A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. MSH:D006850|SNOMEDCT_US:30753002|UMLS:C0020258 hp.json Normal-pressure hydrocephalus http://purl.obolibrary.org/obo/HP_0002343 HP:0002349 biolink:PhenotypicFeature Focal aware seizure A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. UMLS:C0234974|SNOMEDCT_US:117891000119100|MSH:D004828|SNOMEDCT_US:79348005 hp.json Focal seizure without impairment of awareness|Simple partial seizures|Focal aware seizures|Focal seizure without impairment of consciousness or awareness|Partial seizure without impairment of awareness|Focal seizure with retained awareness|Partial seizure with retained awareness|Simple partial seizure|Focal seizures without impairment of consciousness or awareness http://purl.obolibrary.org/obo/HP_0002349 HP:0002346 biolink:PhenotypicFeature Head tremor An unintentional, oscillating to-and-fro muscle movement affecting head movement. UMLS:C0239882 hp.json Head tremor http://purl.obolibrary.org/obo/HP_0002346 UBERON:0018607 biolink:AnatomicalEntity permanent molar tooth 2 hp.json second permanent molar|permanent second molar tooth|second permanent molar tooth|secondary second molar tooth http://purl.obolibrary.org/obo/UBERON_0018607 pheno_slim UBERON:0018608 biolink:AnatomicalEntity permanent molar tooth 1 hp.json first permanent molar|permanent first molar tooth|first permanent molar tooth http://purl.obolibrary.org/obo/UBERON_0018608 pheno_slim UBERON:0006635 biolink:AnatomicalEntity anterior abdominal wall The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus). FMA:14627|VHOG:0000764|EMAPA:17744|EHDAA:5976 hp.json ventral abdominal wall http://purl.obolibrary.org/obo/UBERON_0006635 HP:0002340 biolink:PhenotypicFeature Caudate atrophy UMLS:C1858116 hp.json Caudate degeneration http://purl.obolibrary.org/obo/HP_0002340 UBERON:0006633 biolink:AnatomicalEntity coracoid process of scapula A process of the scapula in most mammals representing the remnant of the coracoid bone of lower vertebrates thas has become fused with the scapula. FMA:13455|EMAPA:25121 hp.json coracoid process|processus coracoideus|coracoid process of the scapula http://purl.obolibrary.org/obo/UBERON_0006633 HP:0002341 biolink:PhenotypicFeature Cervical cord compression Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. UMLS:C0852866 hp.json Cervical cord compression myelopathy http://purl.obolibrary.org/obo/HP_0002341 UBERON:0006632 biolink:AnatomicalEntity musculo-phrenic artery An artery with its origin in the lateral terminal branch of the internal thoracic artery, with distribution to the diaphragm and the intercostal muscles, and with anastomoses to the branches of the pericardiacophrenic and inferior phrenic. FMA:10645|EMAPA:19215 hp.json musculophrenic artery http://purl.obolibrary.org/obo/UBERON_0006632 human_reference_atlas UBERON:0006617 biolink:AnatomicalEntity left external ear An external ear that is in the left side of a multicellular organism. FMA:53644|EMAPA:37360 hp.json left auricular region http://purl.obolibrary.org/obo/UBERON_0006617 pheno_slim UBERON:0018606 biolink:AnatomicalEntity molar tooth 2 The molar tooth of the upper or lower jaw that is phylogenetically number 2. FMA:321613 hp.json molar 2|second molar tooth|molar 2 tooth http://purl.obolibrary.org/obo/UBERON_0018606 HP:0002317 biolink:PhenotypicFeature Unsteady gait SNOMEDCT_US:394616008|MSH:D020233|UMLS:C0231686|SNOMEDCT_US:22631008 hp.json Gait instability|Unsteady walk http://purl.obolibrary.org/obo/HP_0002317 UBERON:0018603 biolink:AnatomicalEntity upper central incisor tooth An incisor tooth that is in_the_central_side_of a dentition and is part of a upper jaw region. FMA:290180 hp.json maxillary central incisor|upper central incisor http://purl.obolibrary.org/obo/UBERON_0018603 pheno_slim HP:0004979 biolink:PhenotypicFeature Metaphyseal sclerosis Abnormally increased density of metaphyseal bone. UMLS:C3552526 hp.json Sclerotic metaphyses|Increased bone density in wide portion of long bone http://purl.obolibrary.org/obo/HP_0004979 UBERON:0018604 biolink:AnatomicalEntity upper lateral incisor tooth An incisor tooth that is in_the_lateral_side_of a dentition and is part of a upper jaw region. FMA:290194 hp.json maxillary lateral incisor|upper lateral incisor http://purl.obolibrary.org/obo/UBERON_0018604 pheno_slim HP:0002318 biolink:PhenotypicFeature Cervical myelopathy SNOMEDCT_US:202664003|UMLS:C0149645 hp.json http://purl.obolibrary.org/obo/HP_0002318 UBERON:0018601 biolink:AnatomicalEntity lower central incisor tooth An incisor tooth that is in_the_central_side_of a dentition and is part of a lower jaw region. FMA:290182 hp.json mandibular central incisor|lower central incisor http://purl.obolibrary.org/obo/UBERON_0018601 pheno_slim UBERON:0018602 biolink:AnatomicalEntity lower lateral incisor tooth An incisor tooth that is in_the_lateral_side_of a dentition and is part of a lower jaw region. FMA:290197 hp.json mandibular lateral incisor|lower lateral incisor http://purl.obolibrary.org/obo/UBERON_0018602 pheno_slim UBERON:0018600 biolink:AnatomicalEntity lower second primary molar tooth FMA:84237 hp.json lower primary tooth E|lower second deciduous molar tooth http://purl.obolibrary.org/obo/UBERON_0018600 HP:0002311 biolink:PhenotypicFeature Incoordination MSH:D001259|SNOMEDCT_US:302289002|UMLS:C0520966|SNOMEDCT_US:281016006 hp.json Limb incoordination|Incoordination|Difficulties in coordination|Incoordination of limb movements http://purl.obolibrary.org/obo/HP_0002311 HP:0004974 biolink:PhenotypicFeature Coarctation of abdominal aorta Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta. UMLS:C4025263 hp.json http://purl.obolibrary.org/obo/HP_0004974 HP:0002312 biolink:PhenotypicFeature Clumsiness Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. UMLS:C0233844|SNOMEDCT_US:7006003 hp.json Clumsiness http://purl.obolibrary.org/obo/HP_0002312 HP:0004972 biolink:PhenotypicFeature Elevated mean arterial pressure An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. UMLS:C1840376 hp.json http://purl.obolibrary.org/obo/HP_0004972 HP:0004971 biolink:PhenotypicFeature Pulmonary artery hypoplasia Underdevelopment of the pulmonary artery. UMLS:C0265910|SNOMEDCT_US:54682008|Fyler:2966 hp.json Underdeveloped pulmonary artery|Underdeveloped lung artery http://purl.obolibrary.org/obo/HP_0004971 HP:0002310 biolink:PhenotypicFeature Orofacial dyskinesia SNOMEDCT_US:49386006|UMLS:C0152115|MSH:D020820 hp.json Orofacial dyskinesias http://purl.obolibrary.org/obo/HP_0002310 HP:0002315 biolink:PhenotypicFeature Headache Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. MSH:D006261|UMLS:C0018681|SNOMEDCT_US:25064002 hp.json Headache|Headaches http://purl.obolibrary.org/obo/HP_0002315 HP:0100909 biolink:PhenotypicFeature Sclerosis of the proximal phalanx of the 3rd finger UMLS:C4021933 hp.json Increased bone density in innermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0100909 HP:0004977 biolink:PhenotypicFeature Bilateral radial aplasia Missing radius bone on both sides associated with congenital failure of development. UMLS:C1848840 hp.json Bilateral absence of radius http://purl.obolibrary.org/obo/HP_0004977 HP:0100907 biolink:PhenotypicFeature Sclerosis of the middle phalanx of the 5th finger UMLS:C4021935 hp.json Increased bone density in the middle bone of the pinkie finger|Increased bone density in the middle bone of the little finger|Increased bone density in the middle bone of the pinky finger http://purl.obolibrary.org/obo/HP_0100907 HP:0004976 biolink:PhenotypicFeature Knee dislocation MSH:D031221|SNOMEDCT_US:58320001|UMLS:C0159970 hp.json Knee dislocations|Dislocations of the knees http://purl.obolibrary.org/obo/HP_0004976 HP:0002313 biolink:PhenotypicFeature Spastic paraparesis SNOMEDCT_US:312444006|UMLS:C0037771|MSH:D020336 hp.json http://purl.obolibrary.org/obo/HP_0002313 HP:0002314 biolink:PhenotypicFeature Degeneration of the lateral corticospinal tracts Deterioration of the tissues of the lateral corticospinal tracts. UMLS:C1846566 hp.json Degeneration of lateral corticospinal tracts http://purl.obolibrary.org/obo/HP_0002314 HP:0004975 biolink:PhenotypicFeature Erlenmeyer flask deformity of the femurs Flaring of distal femur. UMLS:C1855895 hp.json Erlenmeyer flask shaped thighbone|Erlenmeyer flask femora|Erlenmeyer flask deformity of distal femur http://purl.obolibrary.org/obo/HP_0004975 HP:0100908 biolink:PhenotypicFeature Sclerosis of the proximal phalanx of the 2nd finger UMLS:C4021934 hp.json Increased bone density in the innermost bone of the index finger http://purl.obolibrary.org/obo/HP_0100908 HP:0100905 biolink:PhenotypicFeature Sclerosis of the middle phalanx of the 3rd finger UMLS:C4021937 hp.json Increased bone density in the middle bone of the middle finger http://purl.obolibrary.org/obo/HP_0100905 HP:0100906 biolink:PhenotypicFeature Sclerosis of the middle phalanx of the 4th finger UMLS:C4021936 hp.json Increased bone density in the middle bone of the ring finger http://purl.obolibrary.org/obo/HP_0100906 HP:0100903 biolink:PhenotypicFeature Sclerosis of the distal phalanx of the 5th finger UMLS:C4021939 hp.json Increased bone density in the outermost pinky finger bone|Increased bone density in the outermost little finger bone|Increased bone density in the outermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0100903 HP:0100904 biolink:PhenotypicFeature Sclerosis of the middle phalanx of the 2nd finger UMLS:C4021938 hp.json Increased bone density in the middle bone of the index finger http://purl.obolibrary.org/obo/HP_0100904 HP:0004970 biolink:PhenotypicFeature Ascending tubular aorta aneurysm An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Fyler:2701|SNOMEDCT_US:253645007|UMLS:C0345049|Fyler:2310 hp.json Bulging of wall of large artery located above heart|Aneurysm of the ascending tubular aorta|Ascending aortic dilation|Ascending aortic aneurysm|Ascending aorta dilation|Dilatation of ascending aorta http://purl.obolibrary.org/obo/HP_0004970 HP:0100901 biolink:PhenotypicFeature Sclerosis of the distal phalanx of the 3rd finger UMLS:C4021941 hp.json Increased bone density in the outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0100901 HP:0100902 biolink:PhenotypicFeature Sclerosis of the distal phalanx of the 4th finger UMLS:C4021940 hp.json Increased bone density in the outermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0100902 HP:0100900 biolink:PhenotypicFeature Sclerosis of the distal phalanx of the 2nd finger UMLS:C4021942 hp.json Increased bone density in the outermost bone of the index finger http://purl.obolibrary.org/obo/HP_0100900 UBERON:0006609 biolink:AnatomicalEntity corpus cavernosum FMA:321004|BTO:0005454 hp.json http://purl.obolibrary.org/obo/UBERON_0006609 pheno_slim UBERON:0006608 biolink:AnatomicalEntity corpus cavernosum clitoridis The corpus cavernosum clitoridis is one of a pair of sponge-like regions of erectile tissue which contain most of the blood in the clitoris during clitoral erection. This is homologous to the corpus cavernosum penis in the male; the body of the clitoris contains erectile tissue in a pair of corpora cavernosa (literally 'cave-like bodies'), with a recognisably similar structure. FMA:20172|BTO:0002018 hp.json corpus cavernosum|corpus cavernosum clitoridis|cavernous body of clitoris|corpus cavernosum of clitoris|clitoral corpus cavernosum http://purl.obolibrary.org/obo/UBERON_0006608 UBERON:0006606 biolink:AnatomicalEntity mandibular symphysis A cartilaginous joint that connects left and right mandibles/dentary bones. Mandibular symphysis is unpaired[TAO,modified]. Wikipedia:Symphysis_menti|FMA:75779|TAO:0001851|ZFA:0005488|AAO:0000277|MA:0001490 hp.json inter-dentary joint|symphysis mandibulae|symphysis mandibulae|mental symphysis|inter-mandibular joint|symphysis menti|dentary symphysis|mental symphysis http://purl.obolibrary.org/obo/UBERON_0006606 vertebrate_core|pheno_slim HP:0002329 biolink:PhenotypicFeature Drowsiness Excessive daytime sleepiness. SNOMEDCT_US:79519003|MSH:D012894|UMLS:C0013144|SNOMEDCT_US:271782001 hp.json Sleepy|Drowsiness http://purl.obolibrary.org/obo/HP_0002329 HP:0002322 biolink:PhenotypicFeature Resting tremor A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. MSH:D014202|UMLS:C0234379|SNOMEDCT_US:25082004 hp.json Resting tremor|Parkinsonian tremor|Tremor at rest|Rest tremor http://purl.obolibrary.org/obo/HP_0002322 HP:0002323 biolink:PhenotypicFeature Anencephaly Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. Fyler:4332|SNOMEDCT_US:89369001|UMLS:C0002902|MSH:D000757 hp.json Foetal anencephaly|Fetal anencephaly|Embryonic anencephaly http://purl.obolibrary.org/obo/HP_0002323 HP:0002321 biolink:PhenotypicFeature Vertigo An abnormal sensation of spinning while the body is actually stationary. SNOMEDCT_US:399153001|UMLS:C0012833|MSH:D004244|UMLS:C0042571|SNOMEDCT_US:399090003|MSH:D014717|SNOMEDCT_US:404640003|SNOMEDCT_US:271789005 hp.json Dizzy spell|Dizziness http://purl.obolibrary.org/obo/HP_0002321 HP:0002326 biolink:PhenotypicFeature Transient ischemic attack MSH:D002546|UMLS:C0917805 hp.json Transient ischemic attacks|TIA|Mini stroke|Transient ischaemic attack|Transient ischaemic attacks http://purl.obolibrary.org/obo/HP_0002326 HP:0004987 biolink:PhenotypicFeature Mesomelic leg shortening Shortening of the middle parts of the leg in relation to the upper and terminal segments. UMLS:C1969178 hp.json Mesomelia of the lower limbs|Mesomelic lower limb shortening http://purl.obolibrary.org/obo/HP_0004987 HP:0100918 biolink:PhenotypicFeature Sclerosis of 2nd finger phalanx An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020937 hp.json Increased bone density in 2nd finger bone|Sclerosis of the phalanges of the 2nd finger http://purl.obolibrary.org/obo/HP_0100918 HP:0002324 biolink:PhenotypicFeature Hydranencephaly A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. UMLS:C0020225|MSH:D006832|SNOMEDCT_US:30023002 hp.json Hydrancephaly http://purl.obolibrary.org/obo/HP_0002324 HP:0100919 biolink:PhenotypicFeature Sclerosis of 3rd finger phalanx An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020936 hp.json Sclerosis of the phalanges of the 3rd finger|Increased bone density in middle finger bone http://purl.obolibrary.org/obo/HP_0100919 HP:0004986 biolink:PhenotypicFeature obsolete Rudimentary to absent fibulae hp.json http://purl.obolibrary.org/obo/HP_0004986 HP:0100916 biolink:PhenotypicFeature Sclerosis of middle finger phalanx An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020939 hp.json Increased bone density in middle finger bone of hand|Sclerosis of the middle phalanges of the hand http://purl.obolibrary.org/obo/HP_0100916 UBERON:0006616 biolink:AnatomicalEntity right external ear An external ear that is in the right side of a multicellular organism. FMA:53643|EMAPA:37361 hp.json right auricular region http://purl.obolibrary.org/obo/UBERON_0006616 pheno_slim UBERON:0006615 biolink:AnatomicalEntity venous sinus A large vein or channel for the circulation of venous blood. NCIT:C12877|UMLS:C0226504|MA:0000070|ZFA:0007072 hp.json blood sinus http://purl.obolibrary.org/obo/UBERON_0006615 pheno_slim HP:0100917 biolink:PhenotypicFeature Sclerosis of proximal finger phalanx An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020938 hp.json Increased bone density in innermost finger bone|Sclerosis of the proximal phalanges of the hand http://purl.obolibrary.org/obo/HP_0100917 UBERON:0006614 biolink:AnatomicalEntity aponeurosis A sheet of extracellular matrix. EHDAA2:0003092|MESH:D000070606|UMLS:C0225205|AEO:0000092|NCIT:C32133|ZFA:0005652|FMA:9722 hp.json aponeurotic|aponeuroses http://purl.obolibrary.org/obo/UBERON_0006614 HP:0100914 biolink:PhenotypicFeature Sclerosis of the 1st metacarpal UMLS:C4021928 hp.json Increased bone density in 1st long bone of hand http://purl.obolibrary.org/obo/HP_0100914 HP:0100915 biolink:PhenotypicFeature Sclerosis of distal finger phalanx An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020940 hp.json Increased bone density in outermost finger bone|Sclerosis of the distal phalanges of the hand http://purl.obolibrary.org/obo/HP_0100915 HP:0100912 biolink:PhenotypicFeature Sclerosis of the distal phalanx of the thumb An elevation of bone density in the distal phalanx of the thumb. UMLS:C4021930 hp.json Increased bone density in the outermost bone of the thumb http://purl.obolibrary.org/obo/HP_0100912 HP:0004981 biolink:PhenotypicFeature Prominent styloid process of ulna UMLS:C4025262 hp.json http://purl.obolibrary.org/obo/HP_0004981 HP:0004980 biolink:PhenotypicFeature Metaphyseal rarefaction Reduction in density of metaphyseal bony tissue. UMLS:C1832146 hp.json Rarefaction of the metaphyses http://purl.obolibrary.org/obo/HP_0004980 HP:0100913 biolink:PhenotypicFeature Sclerosis of the proximal phalanx of the thumb An elevation of bone density in the proximal phalanx of the thumb. UMLS:C4021929 hp.json Increased bone density in the innermost bone of the thumb http://purl.obolibrary.org/obo/HP_0100913 HP:0100910 biolink:PhenotypicFeature Sclerosis of the proximal phalanx of the 4th finger UMLS:C4021932 hp.json Increased bone density in the innermost bone of the ring finger http://purl.obolibrary.org/obo/HP_0100910 HP:0100911 biolink:PhenotypicFeature Sclerosis of the proximal phalanx of the 5th finger UMLS:C4021931 hp.json Increased bone density in innermost little finger bone|Increased bone density in innermost pinkie finger bone|Increased bone density in innermost pinky finger bone http://purl.obolibrary.org/obo/HP_0100911 GO:0042360 biolink:BiologicalProcess vitamin E metabolic process The chemical reactions and pathways involving vitamin E, tocopherol, which includes a series of eight structurally similar compounds. Alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant. hp.json alpha-tocopherol metabolism|vitamin E metabolism|tocopherol metabolism|alpha-tocopherol metabolic process|tocopherol metabolic process http://purl.obolibrary.org/obo/GO_0042360 CHEBI:5686 biolink:ChemicalSubstance heterocyclic compound A cyclic compound having as ring members atoms of at least two different elements. hp.json heterocyclic compounds|compuesto heterociclico|heterocycle|compuestos heterociclicos|Heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_5686 3_STAR GO:0042373 biolink:BiologicalProcess vitamin K metabolic process The chemical reactions and pathways involving any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals. Vitamin K substances share a methylated naphthoquinone ring structure and vary in the aliphatic side chains attached to the molecule. hp.json naphthoquinone metabolic process|naphthoquinone metabolism|vitamin K metabolism http://purl.obolibrary.org/obo/GO_0042373 RO:0002380 biolink:NamedThing branching part of x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y RO:0002380 hp.json http://purl.obolibrary.org/obo/RO_0002380 ro-eco GO:0042391 biolink:BiologicalProcess regulation of membrane potential Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. hp.json http://purl.obolibrary.org/obo/GO_0042391 RO:0002385 biolink:NamedThing has potential to developmentally contribute to x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y RO:0002385 hp.json http://purl.obolibrary.org/obo/RO_0002385 RO:0002386 biolink:NamedThing has potential to developmentally induce x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y hp.json http://purl.obolibrary.org/obo/RO_0002386 RO:0002387 biolink:NamedThing has potential to develop into x has the potential to develop into y iff x develops into y or if x is capable of developing into y RO:0002387 hp.json http://purl.obolibrary.org/obo/RO_0002387 RO:0002388 biolink:NamedThing has potential to directly develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y hp.json http://purl.obolibrary.org/obo/RO_0002388 RO:0002384 biolink:NamedThing has developmental potential involving x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). hp.json http://purl.obolibrary.org/obo/RO_0002384 PR:000004089 biolink:Protein aldehyde oxidase A protein that is a translation product of the human AOX1 gene or a 1:1 ortholog thereof. hp.json AOX1|AO|Ro|retinal oxidase http://purl.obolibrary.org/obo/PR_000004089 RO:0002379 biolink:NamedThing spatially coextensive with x spatially_coextensive_with y if and inly if x and y have the same location hp.json http://purl.obolibrary.org/obo/RO_0002379 GO:0030336 biolink:BiologicalProcess negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. hp.json downregulation of cell migration|down regulation of cell migration|inhibition of cell migration|down-regulation of cell migration http://purl.obolibrary.org/obo/GO_0030336 GO:0032997 biolink:CellularComponent Fc receptor complex A protein complex composed of a subunit or subunits capable of binding the Fc portion of an immunoglobulin with additional signaling components. The complex functions as a receptor for immunoglobulin. hp.json immunoglobulin receptor complex|Fc-receptor complex|FcR complex http://purl.obolibrary.org/obo/GO_0032997 goslim_pir GO:0030334 biolink:BiologicalProcess regulation of cell migration Any process that modulates the frequency, rate or extent of cell migration. hp.json http://purl.obolibrary.org/obo/GO_0030334 GO:0030335 biolink:BiologicalProcess positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration. hp.json activation of cell migration|upregulation of cell migration|up regulation of cell migration|stimulation of cell migration|up-regulation of cell migration http://purl.obolibrary.org/obo/GO_0030335 RO:0002374 biolink:NamedThing derived from ancestral fusion of x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat RO:0002374 hp.json http://purl.obolibrary.org/obo/RO_0002374 RO:0002375 biolink:NamedThing in branching relationship with A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. hp.json http://purl.obolibrary.org/obo/RO_0002375 RO:0002376 biolink:NamedThing tributary of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. RO:0002376 hp.json drains into http://purl.obolibrary.org/obo/RO_0002376 ro-eco RO:0002371 biolink:NamedThing attached to a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a RO:0002371 hp.json http://purl.obolibrary.org/obo/RO_0002371 ro-eco PATO:0002507 biolink:NamedThing keratinous hp.json http://purl.obolibrary.org/obo/PATO_0002507 RO:0002372 biolink:NamedThing has muscle origin m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to. RO:0002372 hp.json http://purl.obolibrary.org/obo/RO_0002372 PATO:0002505 biolink:NamedThing nucleated A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. hp.json http://purl.obolibrary.org/obo/PATO_0002505 mpath_slim|value_slim RO:0002373 biolink:NamedThing has muscle insertion m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone. RO:0002373 hp.json http://purl.obolibrary.org/obo/RO_0002373 NCBITaxon:1437180 biolink:OrganismalEntity Acrogymnospermae GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_1437180 GO:0032994 biolink:CellularComponent protein-lipid complex A macromolecular complex containing separate protein and lipid molecules. Separate in this context means not covalently bound to each other. hp.json http://purl.obolibrary.org/obo/GO_0032994 GO:0032991 biolink:CellularComponent protein-containing complex Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups. hp.json protein-protein complex|protein containing complex|protein complex|protein-protein complex|macromolecular complex|macromolecule complex http://purl.obolibrary.org/obo/GO_0032991 goslim_agr|goslim_pir|goslim_flybase_ribbon|goslim_chembl|goslim_mouse GO:0032990 biolink:BiologicalProcess cell part morphogenesis The process in which the anatomical structures of a cell part are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0032990 PATO:0002519 biolink:NamedThing cancellous hp.json http://purl.obolibrary.org/obo/PATO_0002519 GO:0032989 biolink:BiologicalProcess cellular component morphogenesis The process in which cellular structures, including whole cells or cell parts, are generated and organized. hp.json cellular structure morphogenesis http://purl.obolibrary.org/obo/GO_0032989 goslim_pir GO:0032988 biolink:BiologicalProcess ribonucleoprotein complex disassembly The disaggregation of a protein-RNA complex into its constituent components. hp.json protein-RNA complex disassembly|RNA-protein complex disassembly|RNP complex disassembly http://purl.obolibrary.org/obo/GO_0032988 GO:0030323 biolink:BiologicalProcess respiratory tube development The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. hp.json http://purl.obolibrary.org/obo/GO_0030323 GO:0030324 biolink:BiologicalProcess lung development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. hp.json http://purl.obolibrary.org/obo/GO_0030324 HP:0002506 biolink:PhenotypicFeature Diffuse cerebral atrophy Diffuse unlocalised atrophy affecting the cerebrum. UMLS:C0598275 hp.json Cerebral atrophy, diffuse http://purl.obolibrary.org/obo/HP_0002506 HP:0002507 biolink:PhenotypicFeature Semilobar holoprosencephaly A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. UMLS:C0751617|SNOMEDCT_US:253138008|MSH:D016142 hp.json http://purl.obolibrary.org/obo/HP_0002507 HP:0002504 biolink:PhenotypicFeature Calcification of the small brain vessels Deposition of calcium salts within small blood vessels of the brain. UMLS:C4025703 hp.json http://purl.obolibrary.org/obo/HP_0002504 HP:0002505 biolink:PhenotypicFeature Loss of ambulation Inability to walk in a person who previous had the ability to walk. UMLS:C1836843 hp.json Loss of ability to walk http://purl.obolibrary.org/obo/HP_0002505 HP:0002508 biolink:PhenotypicFeature Brainstem dysplasia A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. UMLS:C1855677 hp.json Malformation of brainstem structures|Brainstem hypoplasia/dysplasia http://purl.obolibrary.org/obo/HP_0002508 HP:0002509 biolink:PhenotypicFeature Limb hypertonia UMLS:C1838391 hp.json Increased muscle tone of arm or leg http://purl.obolibrary.org/obo/HP_0002509 HP:0002503 biolink:PhenotypicFeature Spinocerebellar tract degeneration UMLS:C1866751 hp.json Degeneration of the spinocerebellar tracts|Spinocerebellar degeneration http://purl.obolibrary.org/obo/HP_0002503 HP:0002500 biolink:PhenotypicFeature Abnormal cerebral white matter morphology An abnormality of the cerebral white matter. UMLS:C0948163|UMLS:C4020851|MSH:D049292 hp.json Cortical white matter abnormalities seen on MRI|Cerebral white matter abnormalities|White matter abnormalities|White matter alterations|Abnormality of the cerebral white matter|Abnormality of subcortical white matter|Leukoaraiosis http://purl.obolibrary.org/obo/HP_0002500 HP:0002501 biolink:PhenotypicFeature Spasticity of pharyngeal muscles UMLS:C1853398 hp.json http://purl.obolibrary.org/obo/HP_0002501 GO:0032984 biolink:BiologicalProcess protein-containing complex disassembly The disaggregation of a protein-containing macromolecular complex into its constituent components. hp.json macromolecule complex disassembly|cellular protein complex disassembly|cellular macromolecule complex disassembly|protein complex disassembly http://purl.obolibrary.org/obo/GO_0032984 GO:0030320 biolink:BiologicalProcess cellular monovalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic anions at the level of a cell. hp.json http://purl.obolibrary.org/obo/GO_0030320 GO:0032980 biolink:BiologicalProcess keratinocyte activation A change in the morphology or behavior of a keratinocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. Upon activation, keratinocytes become migratory and hyperproliferative, and produce growth factors and cytokines. hp.json http://purl.obolibrary.org/obo/GO_0032980 GO:0030318 biolink:BiologicalProcess melanocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a melanocyte. hp.json melanocyte cell differentiation|melanophore differentiation http://purl.obolibrary.org/obo/GO_0030318 GO:0030316 biolink:BiologicalProcess osteoclast differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. hp.json osteoclast cell differentiation http://purl.obolibrary.org/obo/GO_0030316 GO:0030317 biolink:NamedThing flagellated sperm motility hp.json http://purl.obolibrary.org/obo/GO_0030317 GO:0030312 biolink:CellularComponent external encapsulating structure A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. hp.json http://purl.obolibrary.org/obo/GO_0030312 goslim_plant|goslim_pir|goslim_chembl|goslim_drosophila|goslim_generic RO:0002352 biolink:NamedThing input of inverse of has input RO:0002352 hp.json http://purl.obolibrary.org/obo/RO_0002352 ro-eco|http://purl.obolibrary.org/obo/RO_0002259 RO:0002353 biolink:Protein output_of inverse of has output RO:0002353 hp.json http://purl.obolibrary.org/obo/RO_0002353 ro-eco|http://purl.obolibrary.org/obo/RO_0002259 RO:0002354 biolink:NamedThing formed as result of hp.json http://purl.obolibrary.org/obo/RO_0002354 RO:0002350 biolink:NamedThing member of is member of is a mereological relation between a item and a collection. RO:0002350 hp.json http://purl.obolibrary.org/obo/RO_0002350 RO:0002351 biolink:NamedThing has member has member is a mereological relation between a collection and an item. RO:0002351 hp.json http://purl.obolibrary.org/obo/RO_0002351 GO:0032970 biolink:BiologicalProcess regulation of actin filament-based process Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the actin cytoskeleton. hp.json http://purl.obolibrary.org/obo/GO_0032970 GO:0030307 biolink:BiologicalProcess positive regulation of cell growth Any process that activates or increases the frequency, rate, extent or direction of cell growth. hp.json activation of cell growth|stimulation of cell growth|upregulation of cell growth|up-regulation of cell growth|up regulation of cell growth http://purl.obolibrary.org/obo/GO_0030307 GO:0030308 biolink:BiologicalProcess negative regulation of cell growth Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. hp.json down-regulation of cell growth|down regulation of cell growth|inhibition of cell growth|downregulation of cell growth http://purl.obolibrary.org/obo/GO_0030308 GO:0032967 biolink:BiologicalProcess positive regulation of collagen biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. hp.json positive regulation of collagen synthesis|positive regulation of collagen biosynthesis|positive regulation of collagen formation|positive regulation of collagen anabolism http://purl.obolibrary.org/obo/GO_0032967 GO:0032966 biolink:BiologicalProcess negative regulation of collagen biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. hp.json negative regulation of collagen biosynthesis|negative regulation of collagen anabolism|negative regulation of collagen synthesis|negative regulation of collagen formation http://purl.obolibrary.org/obo/GO_0032966 GO:0032965 biolink:BiologicalProcess regulation of collagen biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. hp.json regulation of collagen anabolism|regulation of collagen synthesis|regulation of collagen formation|regulation of collagen biosynthesis http://purl.obolibrary.org/obo/GO_0032965 GO:0032964 biolink:BiologicalProcess collagen biosynthetic process The chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). hp.json collagen anabolism|collagen biosynthesis|collagen synthesis|collagen formation http://purl.obolibrary.org/obo/GO_0032964 GO:0032963 biolink:BiologicalProcess collagen metabolic process The chemical reactions and pathways involving collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). hp.json collagen metabolism http://purl.obolibrary.org/obo/GO_0032963 RO:0002341 biolink:NamedThing results in transport along Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l RO:0002341 hp.json http://purl.obolibrary.org/obo/RO_0002341 RO:0002342 biolink:NamedThing results in transport across Holds between p and m when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that crosses m. RO:0002342 hp.json http://purl.obolibrary.org/obo/RO_0002342 http://purl.obolibrary.org/obo/valid_for_go_ontology RO:0002343 biolink:NamedThing results in growth of RO:0002343 hp.json http://purl.obolibrary.org/obo/RO_0002343 RO:0002344 biolink:NamedThing results in transport to from or in RO:0002344 hp.json http://purl.obolibrary.org/obo/RO_0002344 RO:0002338 biolink:NamedThing has target start location This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. RO:0002338 hp.json http://purl.obolibrary.org/obo/RO_0002338 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension RO:0002339 biolink:NamedThing has target end location This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. RO:0002339 hp.json http://purl.obolibrary.org/obo/RO_0002339 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension RO:0002334 biolink:NamedThing regulated by inverse of regulates RO:0002334 hp.json http://purl.obolibrary.org/obo/RO_0002334 http://purl.obolibrary.org/obo/RO_0002259 RO:0002335 biolink:NamedThing negatively regulated by inverse of negatively regulates RO:0002335 hp.json http://purl.obolibrary.org/obo/RO_0002335 http://purl.obolibrary.org/obo/RO_0002259 RO:0002336 biolink:NamedThing positively regulated by inverse of positively regulates RO:0002336 hp.json http://purl.obolibrary.org/obo/RO_0002336 http://purl.obolibrary.org/obo/RO_0002259 RO:0002337 biolink:NamedThing related via localization to A relationship that holds via some process of localization hp.json http://purl.obolibrary.org/obo/RO_0002337 CHEBI:137682 biolink:ChemicalSubstance methylhistidine hp.json methylhistidines http://purl.obolibrary.org/obo/CHEBI_137682 2_STAR HP:0100765 biolink:PhenotypicFeature Abnormality of the tonsils An abnormality of the tonsils. UMLS:C4021975 hp.json http://purl.obolibrary.org/obo/HP_0100765 HP:0100766 biolink:PhenotypicFeature Abnormal lymphatic vessel morphology A structural anomaly of the vessel that contains or conveys lymph fluid. UMLS:C4021974 hp.json Abnormality of the lymphatic vessels http://purl.obolibrary.org/obo/HP_0100766 HP:0100763 biolink:PhenotypicFeature Abnormality of the lymphatic system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. UMLS:C4021976|SNOMEDCT_US:234087005|SNOMEDCT_US:111590001|UMLS:C0024228|MSH:D008206|SNOMEDCT_US:3305006|SNOMEDCT_US:362971004 hp.json Lymphatic disease http://purl.obolibrary.org/obo/HP_0100763 HP:0100764 biolink:PhenotypicFeature Lymphangioma Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. SNOMEDCT_US:400178008|SNOMEDCT_US:254836000|SNOMEDCT_US:69044001|SNOMEDCT_US:253057002|NCIT:C8965|MSH:D008202|UMLS:C0024221 hp.json http://purl.obolibrary.org/obo/HP_0100764 HP:0100761 biolink:PhenotypicFeature Visceral angiomatosis UMLS:C4021977 hp.json http://purl.obolibrary.org/obo/HP_0100761 HP:0100762 biolink:PhenotypicFeature Hemobilia Bleeding into the biliary tree. UMLS:C0018994|MSH:D006431|SNOMEDCT_US:66556007 hp.json Haemobilia http://purl.obolibrary.org/obo/HP_0100762 HP:0100760 biolink:PhenotypicFeature Clubbing of toes Terminal broadening of the toes (distal phalanges of the toes). SNOMEDCT_US:249808002|MSH:D003025|UMLS:C3887489|UMLS:C0009081|SNOMEDCT_US:53148007|SNOMEDCT_US:397932003 hp.json Clubbed toes http://purl.obolibrary.org/obo/HP_0100760 GO:0101024 biolink:BiologicalProcess mitotic nuclear membrane organization A mitotic cell cycle process which results in the assembly, arrangement, or disassembly of the nuclear inner or outer membrane during mitosis. hp.json nuclear membrane organization involved in mitotic nuclear division http://purl.obolibrary.org/obo/GO_0101024 RO:0002331 biolink:NamedThing involved in c involved_in p if and only if c enables some process p', and p' is part of p hp.json http://purl.obolibrary.org/obo/RO_0002331 GO:0101023 biolink:BiologicalProcess vascular endothelial cell proliferation The multiplication or reproduction of blood vessel endothelial cells, resulting in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/GO_0101023 RO:0002332 biolink:NamedThing regulates levels of p regulates levels of c if p regulates some amount (PATO:0000070) of c RO:0002332 hp.json http://purl.obolibrary.org/obo/RO_0002332 GO:0101025 biolink:BiologicalProcess nuclear membrane biogenesis The process in which a nuclear membrane is synthesized, aggregates, and bonds together. hp.json http://purl.obolibrary.org/obo/GO_0101025 RO:0002333 biolink:NamedThing enabled by inverse of enables hp.json http://purl.obolibrary.org/obo/RO_0002333 http://purl.obolibrary.org/obo/valid_for_gocam RO:0002327 biolink:NamedThing enables hp.json http://purl.obolibrary.org/obo/RO_0002327 http://purl.obolibrary.org/obo/valid_for_go_gp2term RO:0002328 biolink:NamedThing functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. RO:0002328 hp.json http://purl.obolibrary.org/obo/RO_0002328 RO:0002329 biolink:NamedThing part of structure that is capable of this relation holds between c and p when c is part of some c', and c' is capable of p. hp.json http://purl.obolibrary.org/obo/RO_0002329 RO:0002323 biolink:NamedThing mereotopologically related to A mereological relationship or a topological relationship hp.json http://purl.obolibrary.org/obo/RO_0002323 RO:0002324 biolink:NamedThing developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502) hp.json http://purl.obolibrary.org/obo/RO_0002324 PR:000006678 biolink:Protein dihydropyrimidine dehydrogenase [NADP(+)] A protein that is a translation product of the human DPYD gene or a 1:1 ortholog thereof. hp.json DHPDHase|DPD|DPYD|dihydrouracil dehydrogenase|dihydrothymine dehydrogenase http://purl.obolibrary.org/obo/PR_000006678 HP:0100769 biolink:PhenotypicFeature Synovitis UMLS:C0039103|SNOMEDCT_US:416209007|MSH:D013585 hp.json http://purl.obolibrary.org/obo/HP_0100769 HP:0100767 biolink:PhenotypicFeature Abnormal placenta morphology An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. UMLS:C1306893|SNOMEDCT_US:33552005|SNOMEDCT_US:169957005 hp.json Placental issue|Abnormality of the placenta http://purl.obolibrary.org/obo/HP_0100767 HP:0100768 biolink:PhenotypicFeature Choriocarcinoma A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. SNOMEDCT_US:188188009|MSH:D002822|UMLS:C0008497|SNOMEDCT_US:44769000 hp.json http://purl.obolibrary.org/obo/HP_0100768 HP:0100776 biolink:PhenotypicFeature Recurrent pharyngitis An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. UMLS:C0747556 hp.json Pharyngitis, recurrent|Recurrent sore throat http://purl.obolibrary.org/obo/HP_0100776 HP:0100777 biolink:PhenotypicFeature Exostoses An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. SNOMEDCT_US:416189003|MSH:D005096|SNOMEDCT_US:80400009|UMLS:C1442903 hp.json Formation of new noncancerous bone on top of existing bone http://purl.obolibrary.org/obo/HP_0100777 HP:0100774 biolink:PhenotypicFeature Hyperostosis Excessive growth or abnormal thickening of bone tissue. SNOMEDCT_US:203514008|MSH:D015576|UMLS:C0020492|SNOMEDCT_US:13814009 hp.json Bone overgrowth|Bone Hypertrophy http://purl.obolibrary.org/obo/HP_0100774 HP:0100775 biolink:PhenotypicFeature Dural ectasia A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. UMLS:C1851712 hp.json http://purl.obolibrary.org/obo/HP_0100775 HP:0100773 biolink:PhenotypicFeature Cartilage destruction UMLS:C4021973 hp.json Cartilage destruction http://purl.obolibrary.org/obo/HP_0100773 HP:0100770 biolink:PhenotypicFeature Hyperperistalsis Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. SNOMEDCT_US:271838002|UMLS:C0232474|UMLS:C0857071|SNOMEDCT_US:80306002 hp.json Stomach churning http://purl.obolibrary.org/obo/HP_0100770 HP:0100771 biolink:PhenotypicFeature Hypoperistalsis Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. SNOMEDCT_US:77853002|UMLS:C0232475|UMLS:C4020700 hp.json Intestinal hypoperistalsis http://purl.obolibrary.org/obo/HP_0100771 RO:0002320 biolink:NamedThing evolutionarily related to A relationship that holds via some environmental process hp.json http://purl.obolibrary.org/obo/RO_0002320 UBERON:0004092 biolink:AnatomicalEntity hypothalamus-pituitary axis hp.json http://purl.obolibrary.org/obo/UBERON_0004092 pheno_slim RO:0002321 biolink:NamedThing ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) hp.json http://purl.obolibrary.org/obo/RO_0002321 RO:0002322 biolink:NamedThing confers advantage in RO:0002322 hp.json http://purl.obolibrary.org/obo/RO_0002322 UBERON:0004090 biolink:AnatomicalEntity periorbital region MA:0002875|FMA:59351 hp.json periorbita|periorbital area http://purl.obolibrary.org/obo/UBERON_0004090 pheno_slim UBERON:0004099 biolink:AnatomicalEntity joint space of elbow Joint cavity shared by all the joints of the elbow. The elbow joint is a compound joint that actually comprises three separate joints: the joints connecting the upper and lower arm: 1) Articulatio humero-ulnaris and 2) Articulatio humero-radialis as well as the proximal joint connecting the forarm bones: 3) Articulatio radio-ulnaris proximalis. All three share a joint cavity which is highly sinuated/scalloped/coved. Joint spaces of the elbow summarizes the joint cavity shared by all three adjoining joints of the elbow joint. FMA:38911 hp.json synovial cavity of elbow joint http://purl.obolibrary.org/obo/UBERON_0004099 pheno_slim UBERON:0004098 biolink:AnatomicalEntity tibial plateaux hp.json http://purl.obolibrary.org/obo/UBERON_0004098 human_reference_atlas|pheno_slim UBERON:0004096 biolink:AnatomicalEntity odontoid process of cervical vertebra 2 The toothlike process on the upper surface of the axis, which articulates with the atlas above[GAID]. UMLS:C0028881|EMAPA:26535|GAID:238|MESH:D009809|OpenCyc:Mx4rwIYGoJwpEbGdrcN5Y29ycA|FMA:24043|AAO:0000721|MA:0002872|NCIT:C86970 hp.json dens axis|dens|dens of axis|axis odontoid process|odontoid process|odontoid|cervical vertebra 2 odontoid process|axis dens|odontoid process of axis http://purl.obolibrary.org/obo/UBERON_0004096 pheno_slim RO:0002314 biolink:NamedThing characteristic of part of q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. RO:0002314 hp.json http://purl.obolibrary.org/obo/RO_0002314 RO:0002315 biolink:NamedThing results in acquisition of features of The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity RO:0002315 hp.json http://purl.obolibrary.org/obo/RO_0002315 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension UBERON:5102544 biolink:AnatomicalEntity individual digit of digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. hp.json digit skeleton|digit http://purl.obolibrary.org/obo/UBERON_5102544 HP:0100778 biolink:PhenotypicFeature Cryoglobulinemia Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius. MSH:D003449|UMLS:C0010403|SNOMEDCT_US:30911005 hp.json Cryoprecipitable immune complexes http://purl.obolibrary.org/obo/HP_0100778 HP:0100779 biolink:PhenotypicFeature Urogenital sinus anomaly A rare birth defect in women where the urethra and vagina both open into a common channel. UMLS:C4021972 hp.json http://purl.obolibrary.org/obo/HP_0100779 HP:0100787 biolink:PhenotypicFeature Prostate neoplasm UMLS:C0033578|MSH:D011471|SNOMEDCT_US:126906006 hp.json http://purl.obolibrary.org/obo/HP_0100787 HP:0100788 biolink:PhenotypicFeature Fused lips Lack of separation of the upper and lower lips. UMLS:C4021970 hp.json Fused lips|Adhesion of upper and lower lips|Fusion of upper and lower lips http://purl.obolibrary.org/obo/HP_0100788 hposlim_core HP:0100785 biolink:PhenotypicFeature Insomnia Persistent difficulty initiating or maintaining sleep. UMLS:C0917801|MSH:D007319|SNOMEDCT_US:193462001 hp.json Fragmented sleep|Difficulty staying or falling asleep http://purl.obolibrary.org/obo/HP_0100785 HP:0100786 biolink:PhenotypicFeature Hypersomnia UMLS:C0917799|SNOMEDCT_US:77692006|MSH:D006970 hp.json Excessive sleepiness http://purl.obolibrary.org/obo/HP_0100786 HP:0100783 biolink:PhenotypicFeature Breast aplasia Failure to develop and congenital absence of the breast. UMLS:C0266009|SNOMEDCT_US:111324004 hp.json Mammary gland aplasia|Absent breast|Congenital absence of breast http://purl.obolibrary.org/obo/HP_0100783 HP:0100784 biolink:PhenotypicFeature Peripheral arteriovenous fistula UMLS:C4021971 hp.json http://purl.obolibrary.org/obo/HP_0100784 HP:0100781 biolink:PhenotypicFeature Abnormal sacroiliac joint morphology An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). UMLS:C0262621 hp.json Abnormality of the sacroiliac joint http://purl.obolibrary.org/obo/HP_0100781 HP:0100780 biolink:PhenotypicFeature Conjunctival hamartoma A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. UMLS:C4021849 hp.json http://purl.obolibrary.org/obo/HP_0100780 GO:0042301 biolink:MolecularActivity phosphate ion binding Binding to a phosphate ion. hp.json http://purl.obolibrary.org/obo/GO_0042301 UBERON:0004088 biolink:AnatomicalEntity orbital region The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present. FMA:260119 hp.json orbital part of face|orbital part of face|eye region|eye region|ocular region|ocular and peri-ocular region|orbital content|orbital part of eye|content of orbital part of eye http://purl.obolibrary.org/obo/UBERON_0004088 pheno_slim RO:0002305 biolink:NamedThing causally upstream of, negative effect RO:0002305 hp.json http://purl.obolibrary.org/obo/RO_0002305 UBERON:0004089 biolink:AnatomicalEntity midface The middle of the face including the nose and its associated bony structures[MW]. MA:0001910|EMAPA:32806|FMA:285406 hp.json snout|lower face|midface/lower face http://purl.obolibrary.org/obo/UBERON_0004089 pheno_slim UBERON:0004086 biolink:AnatomicalEntity brain ventricle One of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid. MESH:D002552|FMA:78447|UMLS:C0007799|HBA:9418|EMAPA:32674|BTO:0001442|BIRNLEX:1356|EFO:0001914|OpenCyc:Mx4rvmTY65wpEbGdrcN5Y29ycA|NCIT:C12356|MA:0000818 hp.json brain ventricles|cerebral ventricle|region of ventricular system of brain http://purl.obolibrary.org/obo/UBERON_0004086 pheno_slim|efo_slim|human_reference_atlas UBERON:0004087 biolink:AnatomicalEntity vena cava Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. UMLS:C0042460|OpenCyc:Mx4rkJQ4U6gEEdudWQACs5b6Bw|MESH:D014684|SCTID:244405007|NCIT:C12817|FMA:321896|GAID:547|EMAPA:18415|Wikipedia:Venae_cavae|AAO:0010215|MA:0000068|BTO:0001438 hp.json venae cavae|caval vein|venae cavae http://purl.obolibrary.org/obo/UBERON_0004087 pheno_slim UBERON:0004084 biolink:AnatomicalEntity genital labium One of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening. galen:Labia|UMLS:C0227759|NCIT:C52559|EMAPA:30837|CALOHA:TS-2210|MA:0002464|FMA:321903 hp.json genital labia|labia|labium http://purl.obolibrary.org/obo/UBERON_0004084 pheno_slim UBERON:0004085 biolink:AnatomicalEntity labium majora One of the folds of skin which form the outer lips on both sides of the vaginal opening. UMLS:C0227760|FMA:20367|MA:0002844|NCIT:C12306|galen:LabiaMajora hp.json labium majus|labium majorum|labia majorum|labium majus pudendi|labium majora|labium majus pudendi http://purl.obolibrary.org/obo/UBERON_0004085 pheno_slim RO:0002304 biolink:NamedThing causally upstream of, positive effect RO:0002304 hp.json http://purl.obolibrary.org/obo/RO_0002304 http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_gocam GO:0140640 biolink:MolecularActivity catalytic activity, acting on a nucleic acid Catalytic activity that acts to modify a nucleic acid. hp.json http://purl.obolibrary.org/obo/GO_0140640 HP:0100789 biolink:PhenotypicFeature Torus palatinus A bony protrusion present on the midline of the hard palate. SNOMEDCT_US:244683008|SNOMEDCT_US:697945009|UMLS:C1840236|UMLS:C0266981|SNOMEDCT_US:46752004|UMLS:C0447996 hp.json Palate exostoses|Palatal tori|Prominent midpalatal ridge|Palatal torus|Maxillary torus http://purl.obolibrary.org/obo/HP_0100789 hposlim_core HP:0100798 biolink:PhenotypicFeature Fingernail dysplasia An abnormality of the development of the fingernails. UMLS:C4020952 hp.json Abnormal fingernail development|Dysplastic fingernails http://purl.obolibrary.org/obo/HP_0100798 HP:0100799 biolink:PhenotypicFeature Neoplasm of the middle ear A tumor (abnormal growth of tissue) of the middle ear. UMLS:C0345617|SNOMEDCT_US:127006003|NCIT:C3262 hp.json Middle ear tumor|Neoplasia of the middle ear|Middle ear tumour http://purl.obolibrary.org/obo/HP_0100799 HP:0100796 biolink:PhenotypicFeature Orchitis Testicular inflammation. SNOMEDCT_US:274718005|UMLS:C0029191|MSH:D009920 hp.json Inflammation of testicles http://purl.obolibrary.org/obo/HP_0100796 HP:0100797 biolink:PhenotypicFeature Toenail dysplasia An abnormality of the development of the toenails. UMLS:C3276623 hp.json Dysplastic toenails|Abnormal toenail development http://purl.obolibrary.org/obo/HP_0100797 HP:0100795 biolink:PhenotypicFeature Abnormally straight spine The absence of the normal curvature of the vertebral column. UMLS:C4021969 hp.json Abnormally straight spine http://purl.obolibrary.org/obo/HP_0100795 hposlim_core HP:0100792 biolink:PhenotypicFeature Acantholysis The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. UMLS:C0000887|MSH:D000051|SNOMEDCT_US:43327007|SNOMEDCT_US:441837004|UMLS:C0241128 hp.json Nikolsky's sign http://purl.obolibrary.org/obo/HP_0100792 HP:0100790 biolink:PhenotypicFeature Hernia MSH:D006547|UMLS:C0019270|SNOMEDCT_US:52515009|SNOMEDCT_US:414403008 hp.json Hernias http://purl.obolibrary.org/obo/HP_0100790 CHEBI:18408 biolink:ChemicalSubstance cobamamide A member of the class of cobalamins that is vitamin B12 in which the cyano group is replaced by a 5'-deoxyadenos-5'-yl moiety. It is one of the two metabolically active form of vitamin B12. Gmelin:439994|PMID:12093296|PMID:11792214|Wikipedia:Cobamamide|CAS:13870-90-1|DrugBank:DB11191|MetaCyc:ADENOSYLCOBALAMIN|CAS:13870-90-1|KEGG:C00194|PMID:17011224|PDBeChem:B1Z|Beilstein:4122932|HMDB:HMDB0002086|Reaxys:4122932 hp.json DBC coenzyme|5'-deoxyadenosyl vitamin B12|(5,6-dimethylbenzimidazolyl)cobamide coenzyme|5'-deoxyadenosylcobalamin|AdoCbl|cobamamidum|DMBC coenzyme|Dibencozide|cobamamid|Cobamamide|Adenosylcob(III)alamin|coenzyme B-12|adenosylcobalamin|Deoxyadenosylcobalamin|5,6-Dimethylbenzimidazolyl-5-deoxyadenosyl-cobamide|5'-deoxyadenosyl-5,6-dimethylbenzimidazolylcobamide|Coenzyme B12|Adenosylcobalamin|Calomide|Calomide|5'-Deoxy-5'-adenosylcobalamin|cobamamide|alpha-(5,6-Dimethylbenzimidazolyl)cobamide coenzyme|cobamamide|cobamide coenzyme|(5,6-Dimethylbenzimidazolyl)cobamide coenzyme|Funacomide|5,6-Dimethylbenzimidazolyl-Co-5'-deoxy-5'-adenosylcobamide|adenosylcob(III)alamin|Cobalamin coenzyme|5'-Deoxy-5'-adenosyl vitamin B12|5'-Deoxy-5'-adenosyl-5,6-dimethylbenzimidazolylcobamide|cobamamida|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-(5'-deoxy-5'-adenosyl)cobamide|Vitamin B12 coenzyme|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-adenosylcobamide http://purl.obolibrary.org/obo/CHEBI_18408 3_STAR CHEBI:18401 biolink:ChemicalSubstance phenylacetate A monocarboxylic acid anion that is the conjugate base of phenylacetic acid. MetaCyc:PHENYLACETATE|UM-BBD_compID:c0211|Beilstein:3539899|Reaxys:3539899|Gmelin:327522 hp.json phenylacetic acid anion|phenylacetate anion|2-phenylacetate|phenylacetate(1-)|phenylacetate|2-phenylethanoate http://purl.obolibrary.org/obo/CHEBI_18401 3_STAR CHEBI:79389 biolink:ChemicalSubstance monovalent inorganic anion Any inorganic anion with a valency of one. hp.json monovalent inorganic anions http://purl.obolibrary.org/obo/CHEBI_79389 3_STAR CHEBI:79388 biolink:ChemicalSubstance divalent inorganic anion Any inorganic anion with a valency of two. hp.json divalent inorganic anions http://purl.obolibrary.org/obo/CHEBI_79388 3_STAR CHEBI:79387 biolink:ChemicalSubstance trivalent inorganic anion Any inorganic anion with a valency of three. hp.json trivalent inorganic anions http://purl.obolibrary.org/obo/CHEBI_79387 3_STAR CHEBI:3098 biolink:ChemicalSubstance bile acid Any member of a group of hydroxy-5beta-cholanic acids occuring in bile, where they are present as the sodium salts of their amides with glycine or taurine. In mammals bile acids almost invariably have 5beta-configuration. KEGG:C01558 hp.json 5beta-bile acids|Bile salt|Gallensaeuren|Bile acid|bile acids|5beta-bile acid|Gallensaeure http://purl.obolibrary.org/obo/CHEBI_3098 3_STAR GO:0042321 biolink:BiologicalProcess negative regulation of circadian sleep/wake cycle, sleep Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. hp.json down-regulation of circadian sleep/wake cycle, sleep|down regulation of circadian sleep/wake cycle, sleep|negative regulation of sleep|inhibition of circadian sleep/wake cycle, sleep|downregulation of circadian sleep/wake cycle, sleep http://purl.obolibrary.org/obo/GO_0042321 GO:0042320 biolink:BiologicalProcess regulation of circadian sleep/wake cycle, REM sleep Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep. hp.json regulation of REM sleep http://purl.obolibrary.org/obo/GO_0042320 GO:0042322 biolink:BiologicalProcess negative regulation of circadian sleep/wake cycle, REM sleep Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep. hp.json inhibition of circadian sleep/wake cycle, REM sleep|negative regulation of REM sleep|downregulation of circadian sleep/wake cycle, REM sleep|down-regulation of circadian sleep/wake cycle, REM sleep|down regulation of circadian sleep/wake cycle, REM sleep http://purl.obolibrary.org/obo/GO_0042322 GO:0042325 biolink:BiologicalProcess regulation of phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. hp.json http://purl.obolibrary.org/obo/GO_0042325 GO:0042327 biolink:BiologicalProcess positive regulation of phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. hp.json up regulation of phosphorylation|activation of phosphorylation|stimulation of phosphorylation|upregulation of phosphorylation|up-regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0042327 GO:0042326 biolink:BiologicalProcess negative regulation of phosphorylation Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule. hp.json down-regulation of phosphorylation|down regulation of phosphorylation|downregulation of phosphorylation|inhibition of phosphorylation http://purl.obolibrary.org/obo/GO_0042326 GO:0042330 biolink:BiologicalProcess taxis The directed movement of a motile cell or organism in response to an external stimulus. Wikipedia:Taxis hp.json directed movement in response to stimulus http://purl.obolibrary.org/obo/GO_0042330 PR:000016043 biolink:Protein T-cell acute lymphocytic leukemia protein 1 A protein that is a translation product of the human TAL1 gene or a 1:1 ortholog thereof. hp.json class A basic helix-loop-helix protein 17|bHLHa17|TAL1|SCL|TAL-1|TCL5|T-cell leukemia/lymphoma protein 5|stem cell protein|BHLHA17 http://purl.obolibrary.org/obo/PR_000016043 GO:0030397 biolink:BiologicalProcess membrane disassembly The controlled breakdown of any cell membrane in the context of a normal process such as autophagy. hp.json membrane degradation|membrane breakdown|membrane catabolism http://purl.obolibrary.org/obo/GO_0030397 GO:0042359 biolink:BiologicalProcess vitamin D metabolic process The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). hp.json cholecalciferol metabolism|ergocalciferol metabolism|ergocalciferol metabolic process|cholecalciferol metabolic process|calciferol metabolic process|vitamin D metabolism|calciferol metabolism http://purl.obolibrary.org/obo/GO_0042359 CHEBI:18361 biolink:ChemicalSubstance diphosphate(4-) PDBeChem:DPO|CAS:14000-31-8|Gmelin:26938|KEGG:C00013 hp.json mu-oxido-bis(trioxidophosphate)(4-)|mu-oxo-hexaoxodiphosphate|pyrophosphate ion|P2O7(4-)|Diphosphate|[O3POPO3](4-)|PPi|Pyrophosphate|Pyrophosphat|Diphosphat|DIPHOSPHATE|diphosphate http://purl.obolibrary.org/obo/CHEBI_18361 3_STAR GO:0150033 biolink:BiologicalProcess negative regulation of protein localization to lysosome Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to lysosome. hp.json http://purl.obolibrary.org/obo/GO_0150033 GO:0150032 biolink:BiologicalProcess positive regulation of protein localization to lysosome Any process that activates or increases the frequency, rate or extent of protein localization to lysosome. hp.json http://purl.obolibrary.org/obo/GO_0150032 GO:0150031 biolink:BiologicalProcess regulation of protein localization to lysosome Any process that modulates the frequency, rate or extent of protein localization to lysosome. hp.json http://purl.obolibrary.org/obo/GO_0150031 UBERON:0004141 biolink:AnatomicalEntity heart tube An epithelial tube that will give rise to the mature heart. NCIT:C34161|AAO:0010411|EFO:0003526|ZFA:0000360|TAO:0000360|EMAPA:32685|XAO:0000337 hp.json endocardial tube|endocardial heart tube|embryonic heart tube http://purl.obolibrary.org/obo/UBERON_0004141 vertebrate_core|pheno_slim|efo_slim HP:0002497 biolink:PhenotypicFeature Spastic ataxia MSH:C564815|UMLS:C1849156 hp.json http://purl.obolibrary.org/obo/HP_0002497 UBERON:0004142 biolink:AnatomicalEntity outflow tract septum The outflow tract septum is a partition in the outflow tract. XAO:0004141 hp.json http://purl.obolibrary.org/obo/UBERON_0004142 UBERON:0004140 biolink:AnatomicalEntity primary heart field A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. XAO:0004185 hp.json FHF|primary heart field|first heart field|primary heart field|PHF|heart field http://purl.obolibrary.org/obo/UBERON_0004140 HP:0100808 biolink:PhenotypicFeature Gastric diverticulum An outpouching of the gastric wall. MSH:D013273|UMLS:C0038355|SNOMEDCT_US:75198005 hp.json Stomach diverticulum http://purl.obolibrary.org/obo/HP_0100808 HP:0100809 biolink:PhenotypicFeature Scalp tenderness Pain or discomfort of the scalp elicited by palpation. MEDDRA:10039521|SNOMEDCT_US:75851004|UMLS:C0151206|UMLS:C0240940|UMLS:C4073183 hp.json Allodynia of scalp|Scalp pain|Scalp hypersensitivity|Scalp tenderness http://purl.obolibrary.org/obo/HP_0100809 HP:0002490 biolink:PhenotypicFeature Increased CSF lactate Increased concentration of lactate in the cerebrospinal fluid. UMLS:C1167918 hp.json Hyperlactatorachia|Increased CSF lactic acid|Increased cerebrospinal fluid lactate http://purl.obolibrary.org/obo/HP_0002490 HP:0100806 biolink:PhenotypicFeature Sepsis Systemic inflammatory response to infection. UMLS:C0036690|MSH:D018805 hp.json Infection in blood stream http://purl.obolibrary.org/obo/HP_0100806 CHEBI:57966 biolink:ChemicalSubstance beta-alanine zwitterion Zwitterionic form of beta-alanine arising from transfer of a proton from the carboxy to the amino group; major species at pH 7.3. Gmelin:454332 hp.json 3-ammoniopropanoate|beta-alanine|3-azaniumylpropanoate http://purl.obolibrary.org/obo/CHEBI_57966 3_STAR HP:0100807 biolink:PhenotypicFeature Long fingers The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. UMLS:C1858091 hp.json Long fingers http://purl.obolibrary.org/obo/HP_0100807 HP:0002491 biolink:PhenotypicFeature Spasticity of facial muscles Spasticity of one or more muscles innervated by the facial nerve. UMLS:C4280571|UMLS:C4280570|UMLS:C1853404 hp.json Spasticity of the facial muscles|Increased stiffness of facial muscles|Increased tone of facial muscles http://purl.obolibrary.org/obo/HP_0002491 HP:0100804 biolink:PhenotypicFeature Ungual fibroma Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). UMLS:C0442880|SNOMEDCT_US:264561009 hp.json Koenen tumor|Koenen's tumor|Parungual fibromas|Periungual fibroma|Koenen's tumour|Koenen tumour http://purl.obolibrary.org/obo/HP_0100804 HP:0100805 biolink:PhenotypicFeature obsolete Precocious menopause hp.json http://purl.obolibrary.org/obo/HP_0100805 HP:0002494 biolink:PhenotypicFeature Abnormal rapid eye movement sleep Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. SNOMEDCT_US:69020003|UMLS:C0392188 hp.json Abnormal REM sleep http://purl.obolibrary.org/obo/HP_0002494 HP:0100802 biolink:PhenotypicFeature Malposition of the stomach Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. UMLS:C1402983 hp.json Gastric malposition|Abnormal stomach location|Gastric ectopia http://purl.obolibrary.org/obo/HP_0100802 UBERON:0004148 biolink:AnatomicalEntity cardiac vein Vein of heart that drains the myocardium. SCTID:277726009|UMLS:C0226737|ZFA:0005814|EHDAA2:0004507|NCIT:C12878|Wikipedia:Coronary_circulation|UMLS:C0226654|FMA:12846|EMAPA:37137|NCIT:C12882|galen:CoronaryVein hp.json cardiac vein|coronary vein|coronary vein|heart vein|coronary vein|vein of heart http://purl.obolibrary.org/obo/UBERON_0004148 pheno_slim HP:0100803 biolink:PhenotypicFeature Abnormality of the periungual region An abnormality of the region around the nails of the fingers or toes. UMLS:C4021966 hp.json http://purl.obolibrary.org/obo/HP_0100803 HP:0002495 biolink:PhenotypicFeature Impaired vibratory sensation A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. SNOMEDCT_US:130980003|UMLS:C1295585 hp.json Decreased vibratory sense|Hypopallesthesia|Diminished vibratory sense|Impaired vibratory sense|Impaired vibratory sensation|Decreased vibration sense http://purl.obolibrary.org/obo/HP_0002495 UBERON:0004145 biolink:AnatomicalEntity outflow tract The outflow tract is the portion of the heart through which blood flows into the arteries. EMAPA:16346|XAO:0004139|VHOG:0000670|EHDAA:798|MA:0000100|EHDAA:464|EHDAA2:0001351 hp.json cardiac outflow tract|arterial (outflow) pole|cardiac outflow tract|arterial (outflow) pole|heart outflow tract http://purl.obolibrary.org/obo/UBERON_0004145 pheno_slim HP:0100800 biolink:PhenotypicFeature Aplasia/Hypoplasia of the pancreas A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. UMLS:C4021968 hp.json Absent/small pancreas|Absent/underdeveloped pancreas http://purl.obolibrary.org/obo/HP_0100800 HP:0002492 biolink:PhenotypicFeature Morphological abnormality of the corticospinal tract Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. UMLS:C4025704|UMLS:C4020852 hp.json Abnormality of the corticospinal tract|Involvement of the corticospinal pathways http://purl.obolibrary.org/obo/HP_0002492 HP:0002493 biolink:PhenotypicFeature Upper motor neuron dysfunction A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. UMLS:C1839042|UMLS:C1504405 hp.json Pyramidal tract dysfunction|Corticospinal tract dysfunction http://purl.obolibrary.org/obo/HP_0002493 HP:0100801 biolink:PhenotypicFeature Pancreatic aplasia Aplasia of the pancreas. UMLS:C4021967 hp.json Absent pancreas http://purl.obolibrary.org/obo/HP_0100801 UBERON:0004146 biolink:AnatomicalEntity His-Purkinje system The His-Purkinje system receives signals from the AV node and is composed of the fibers that regulate cardiac muscle contraction in the ventricles. hp.json His-Purkinji network|HPS|ventricular conduction system|VCS http://purl.obolibrary.org/obo/UBERON_0004146 HP:0100810 biolink:PhenotypicFeature Pointed helix UMLS:C4020951 hp.json Pointed ear|Spock ear|Elfin ear|Vulcan ear|Spock's ear http://purl.obolibrary.org/obo/HP_0100810 UBERON:0004133 biolink:AnatomicalEntity salivatory nucleus . hp.json salivary nucleus http://purl.obolibrary.org/obo/UBERON_0004133 UBERON:0004130 biolink:AnatomicalEntity cerebellar layer A cortical cell layer of the cerebellum. Examples: the granular (inner+outer) layer, molecular layer, Purkinje cell layer, and the ventricular layer of the embryo. FMA:83141|BIRNLEX:880|EMAPA:35212|UMLS:C1707522|MA:0000201|NCIT:C49137 hp.json layer of cerebellar cortex|cell layer of cerebellar cortex|layer of cerebellum|cytoarchitectural part of the cerebellar cortex|gray matter layer of cerebellum http://purl.obolibrary.org/obo/UBERON_0004130 pheno_slim CHEBI:70959 biolink:ChemicalSubstance 3-methylhistidine A methylhistidine in which the methyl group is located at N-3. PMID:24009031|PMID:24681531|PMID:22770225|Reaxys:83652 hp.json 3-methylhistidine|2-amino-3-(1-methyl-1H-imidazol-5-yl)propanoic acid|3-methyl-DL-histidine http://purl.obolibrary.org/obo/CHEBI_70959 3_STAR CHEBI:70958 biolink:ChemicalSubstance 1-methylhistidine A methylhistidine in which the methyl group is located at N-1. Reaxys:611190|PMID:22770225 hp.json 1-methyl-DL-histidine|1-methylhistidine|2-amino-3-(1-methyl-1H-imidazol-4-yl)propanoic acid http://purl.obolibrary.org/obo/CHEBI_70958 3_STAR GO:0140694 biolink:BiologicalProcess non-membrane-bounded organelle assembly The aggregation, arrangement and bonding together of a set of components to form a non-membrane-bounded organelle. hp.json non-membrane-enclosed organelle assembly|non-membrane-bounded organelle formation|non-membrane-enclosed organelle formation http://purl.obolibrary.org/obo/GO_0140694 HP:0100819 biolink:PhenotypicFeature Intestinal fistula An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. UMLS:C0021833|SNOMEDCT_US:38851006|MEDDRA:10022647|MSH:D007412 hp.json http://purl.obolibrary.org/obo/HP_0100819 hposlim_core HP:0100817 biolink:PhenotypicFeature Renovascular hypertension The presence of hypertension related to stenosis of the renal artery. MSH:D006978|UMLS:C0020545|SNOMEDCT_US:123799005 hp.json Hypertension due to renal artery hyperplasia http://purl.obolibrary.org/obo/HP_0100817 NBO:0000993 biolink:NamedThing decreased frequency of drinking hp.json http://purl.obolibrary.org/obo/NBO_0000993 HP:0100818 biolink:PhenotypicFeature Long thorax Increased inferior to superior extent of the thorax. SNOMEDCT_US:298710001|UMLS:C0575484 hp.json Long rib cage http://purl.obolibrary.org/obo/HP_0100818 hposlim_core UBERON:0004139 biolink:AnatomicalEntity cardiogenic plate The first recognizable structure derived from the heart field. VHOG:0000975|EMAPA:16106|EHDAA2:0000215 hp.json cardiac crescent|cardiogenic crescent|myocardial plate|heart rudiment http://purl.obolibrary.org/obo/UBERON_0004139 pheno_slim HP:0100816 biolink:PhenotypicFeature Lip hyperpigmentation UMLS:C4021963 hp.json Increased pigmentation on the lips|Hyperpigmentation of lip vermillion|Darkening of skin of the lips http://purl.obolibrary.org/obo/HP_0100816 UBERON:0006799 biolink:AnatomicalEntity glandular epithelium An epithelium that is composed primarily of secretory cells. NCIT:C43370|BTO:0002991|NCIT:C45715|UMLS:C0682578|UMLS:C1708242 hp.json http://purl.obolibrary.org/obo/UBERON_0006799 HP:0100813 biolink:PhenotypicFeature Testicular torsion Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain. SNOMEDCT_US:49198006|SNOMEDCT_US:81996005|UMLS:C0037856|MSH:D013086 hp.json Spermatic cord torsion http://purl.obolibrary.org/obo/HP_0100813 HP:0100814 biolink:PhenotypicFeature Blue nevus UMLS:C4020699|MSH:D049328|UMLS:C0265985|SNOMEDCT_US:40467008 hp.json Congenital dermal melanocytosis|Mongolian spot http://purl.obolibrary.org/obo/HP_0100814 HP:0100811 biolink:PhenotypicFeature Aplasia/Hypoplasia of the colon Congenital absence or underdevelopment of the colon. UMLS:C4021964 hp.json Absent/underdeveloped colon|Absent/small colon http://purl.obolibrary.org/obo/HP_0100811 HP:0100812 biolink:PhenotypicFeature Halitosis Noticeably unpleasant odors exhaled in breathing. MSH:D006209|SNOMEDCT_US:79879001|MEDDRA:10006326|UMLS:C0018520 hp.json Bad breath|Foetor ex ore http://purl.obolibrary.org/obo/HP_0100812 hposlim_core HP:0100820 biolink:PhenotypicFeature Glomerulopathy Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. UMLS:C0268731|SNOMEDCT_US:197679002 hp.json Diseased glomeruli http://purl.obolibrary.org/obo/HP_0100820 HP:0100821 biolink:PhenotypicFeature Urethrocele The prolapse of the female urethra into the vagina. SNOMEDCT_US:12068006|UMLS:C0238502|ICD-9:618.03 hp.json http://purl.obolibrary.org/obo/HP_0100821 CHEBI:57947 biolink:ChemicalSubstance creatine zwitterion Zwitterionic form of creatine arising from transfer of a proton from the carboxy to the guanidino group; major species at pH 7.3. MetaCyc:CREATINE hp.json creatine|{[amino(iminio)methyl](methyl)amino}acetate http://purl.obolibrary.org/obo/CHEBI_57947 3_STAR CHEBI:57948 biolink:ChemicalSubstance 5-oxo-D-prolinate The conjugate base of 5-oxo-D-proline; major species at pH 7.3. hp.json 5-oxo-D-prolinate(1-)|5-oxo-D-proline|5-oxo-D-prolinate|5-oxo-D-prolinate anion|(2R)-5-oxopyrrolidine-2-carboxylate http://purl.obolibrary.org/obo/CHEBI_57948 3_STAR UBERON:0004121 biolink:AnatomicalEntity ectoderm-derived structure An anatomical structure that develops (entirely or partially) from the ectoderm. FBbt:00025990 hp.json ectodermal deriviative http://purl.obolibrary.org/obo/UBERON_0004121 grouping_class HP:0002476 biolink:PhenotypicFeature Primitive reflex The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. UMLS:C1838319 hp.json Archaic reflex|Primitive reflexes http://purl.obolibrary.org/obo/HP_0002476 UBERON:0004122 biolink:AnatomicalEntity genitourinary system Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. OpenCyc:Mx4rQRpVMgAKEdyHxgDggVfs8g|BILA:0000122|galen:GenitoUrinarySystem|EV:0100094|VHOG:0000286|EMAPA:16367|SCTID:278861008|AAO:0000624|NCIT:C12810|UMLS:C0042066|FMA:280610|EHDAA:1013|GAID:362|MESH:D014566|XAO:0000140|BTO:0003091|EFO:0003864 hp.json genito-urinary system|UG tract|genitourinary tract|GU tract|urogenital tract|urogenital system|Urogenitalsystem http://purl.obolibrary.org/obo/UBERON_0004122 efo_slim|pheno_slim HP:0002474 biolink:PhenotypicFeature Expressive language delay A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. UMLS:C0454641|UMLS:C1847610|UMLS:C4280573|SNOMEDCT_US:229734008 hp.json Deficit in expressive language|Communication delay http://purl.obolibrary.org/obo/HP_0002474 HP:0002475 biolink:PhenotypicFeature Myelomeningocele Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. SNOMEDCT_US:203994003|Fyler:4309|SNOMEDCT_US:414667000|UMLS:C0025312|MSH:D008591 hp.json Spina bifida cystica|Meningomyelocele http://purl.obolibrary.org/obo/HP_0002475 UBERON:0004120 biolink:AnatomicalEntity mesoderm-derived structure An anatomical structure that develops (entirely or partially) from the mesoderm. FBbt:00025998 hp.json mesodermal derivative http://purl.obolibrary.org/obo/UBERON_0004120 grouping_class HP:0002478 biolink:PhenotypicFeature Progressive spastic quadriplegia UMLS:C1859736 hp.json Progressive spastic quadriparesis http://purl.obolibrary.org/obo/HP_0002478 HP:0100828 biolink:PhenotypicFeature Increased T cell count An abnormal increase in the total number of T cells detected in the blood. UMLS:C4021960 hp.json Increase in T cell number|Increase in T cell count http://purl.obolibrary.org/obo/HP_0100828 HP:0100829 biolink:PhenotypicFeature Galactorrhea Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. UMLS:C3665358|MSH:D005687 hp.json Galactorrhoea|Spontaneous milk flow from breast http://purl.obolibrary.org/obo/HP_0100829 HP:0100826 biolink:PhenotypicFeature Neoplasm of the nail A tumor (abnormal growth of tissue) of the nail. UMLS:C4021961|NCIT:C3262 hp.json Nail tumor|Nail tumour http://purl.obolibrary.org/obo/HP_0100826 HP:0100827 biolink:PhenotypicFeature Lymphocytosis Increase in the number or proportion of lymphocytes in the blood. UMLS:C0024282|SNOMEDCT_US:67023009|MSH:D008218 hp.json High lymphocyte count http://purl.obolibrary.org/obo/HP_0100827 UBERON:0004128 biolink:AnatomicalEntity optic vesicle The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. FMA:293357|EHDAA2:0001320|SCTID:362864008|ZFA:0000050|XAO:0000228|TAO:0000050|Wikipedia:Optic_vesicles|VHOG:0000165|UMLS:C0231106|EMAPA:16540|AAO:0011039|NCIT:C34236 hp.json evagination|optic vesicles|eye vesicle|ocular vesicle http://purl.obolibrary.org/obo/UBERON_0004128 pheno_slim|vertebrate_core HP:0002472 biolink:PhenotypicFeature Small cerebral cortex Reduced size of the cerebral cortex. UMLS:C1837503 hp.json Decreased volume of cerebral cortex http://purl.obolibrary.org/obo/HP_0002472 CHEBI:18376 biolink:ChemicalSubstance dermatan sulfate Any of a group of glycosaminoglycans with repeating units consisting of variously sulfated beta1->4-linked L-iduronyl-(alpha1->3)-N-acetyl-D-galactosamine units. CAS:24967-94-0|CAS:24967-94-0|KEGG:C00426|Beilstein:8390617 hp.json beta-Heparin|Dermatan L-iduronate|Chondroitin sulfate B http://purl.obolibrary.org/obo/CHEBI_18376 3_STAR UBERON:0004126 biolink:AnatomicalEntity trabecular layer of ventricle A myocardium trabecular layer that is part of a cardiac ventricle. ZFA:0005060|TAO:0005060|FMA:83511 hp.json trabecular cardiac ventricle muscle|myocardium of region of ventricle|ventricular trabecular myocardium http://purl.obolibrary.org/obo/UBERON_0004126 vertebrate_core HP:0100825 biolink:PhenotypicFeature Cheilitis Inflammation of the lip. MSH:D002613|SNOMEDCT_US:7847004|UMLS:C0007971|UMLS:C4280288 hp.json Inflammation of the lips|Red and sore lips http://purl.obolibrary.org/obo/HP_0100825 hposlim_core UBERON:0004123 biolink:AnatomicalEntity myocardial layer Any of the layers of the myocardium. Example: compact layer, trabecular layer. EMAPA:37475|MA:0000080 hp.json layer of myocardium|myocardium layer http://purl.obolibrary.org/obo/UBERON_0004123 non_informative|pheno_slim HP:0100822 biolink:PhenotypicFeature Rectocele A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy. MSH:D020047|SNOMEDCT_US:62730001|SNOMEDCT_US:447072005|ICD-9:618.04|UMLS:C0149771 hp.json http://purl.obolibrary.org/obo/HP_0100822 HP:0002470 biolink:PhenotypicFeature Nonprogressive cerebellar ataxia UMLS:C1845029 hp.json http://purl.obolibrary.org/obo/HP_0002470 UBERON:0004124 biolink:AnatomicalEntity myocardium trabecular layer The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. In zebrafish, unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae have more strut-like character, and are more uniform without apparent regional differences[ZFA]. TAO:0005059|MA:0002866|EFO:0003706|ZFA:0005059 hp.json myocardial trabeculae carneae|myocardial trabecular layer|heart muscle trabecula|heart muscle trabeculae|trabeculae|trabecular layer|trabecula of heart muscle http://purl.obolibrary.org/obo/UBERON_0004124 efo_slim|vertebrate_core HP:0100823 biolink:PhenotypicFeature Genital hernia UMLS:C4021962 hp.json http://purl.obolibrary.org/obo/HP_0100823 HP:0100831 biolink:PhenotypicFeature Abnormality of vitamin K metabolism Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. UMLS:C4021958 hp.json Abnormality of vitamin K metabolism http://purl.obolibrary.org/obo/HP_0100831 HP:0100832 biolink:PhenotypicFeature Vitreous floaters Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. SNOMEDCT_US:15013002|SNOMEDCT_US:162278001|UMLS:C0016242|SNOMEDCT_US:420999000|UMLS:C1720491 hp.json Flitting flies|Spots in front of eyes|Vitreous condensations|Mouches volantes|Myodesopsia|Vitreous veils|Myodeopsia|Eye floaters|Vitreous opacities|Vitreous debris http://purl.obolibrary.org/obo/HP_0100832 HP:0100830 biolink:PhenotypicFeature Round ear UMLS:C4021959 hp.json Round ear http://purl.obolibrary.org/obo/HP_0100830 UBERON:0004109 biolink:AnatomicalEntity cortex of humerus The outer or sperficial part of the humerus. FMA:31542 hp.json compact bone of humerus|humerus cortical bone|humerus compact bone|cortex of the humerus http://purl.obolibrary.org/obo/UBERON_0004109 pheno_slim NBO:0000961 biolink:NamedThing increased frequency of drinking hp.json http://purl.obolibrary.org/obo/NBO_0000961 HP:0002487 biolink:PhenotypicFeature Hyperkinetic movements Motor hyperactivity with excessive movement of muscles of the body as a whole. SNOMEDCT_US:45352006|SNOMEDCT_US:44548000|MSH:D013035|UMLS:C0037763|MSH:D006948|UMLS:C0424295 hp.json Muscle spasms|Hyperkinesis|Hyperkinesia http://purl.obolibrary.org/obo/HP_0002487 UBERON:0004110 biolink:AnatomicalEntity midnasal cavity An anatomical cavity that is the combination of the cavity between the nares and the choanae[HP,modified]. FMA:59675 hp.json http://purl.obolibrary.org/obo/UBERON_0004110 pheno_slim UBERON:0004111 biolink:AnatomicalEntity anatomical conduit Any tube, opening or passage that connects two distinct anatomical spaces. FMA:242873|SCTID:346902003|EHDAA2:0003080|Wikipedia:Foramen|AEO:0000080 hp.json foramen|opening|foramina|ostium|foramina|ostia http://purl.obolibrary.org/obo/UBERON_0004111 HP:0002488 biolink:PhenotypicFeature Acute leukemia A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). SNOMEDCT_US:91855006|UMLS:C0085669|SNOMEDCT_US:24072005|UMLS:C4280572 hp.json Acute leukemias|Acute leukaemia|Acute blood cancer http://purl.obolibrary.org/obo/HP_0002488 HP:0002486 biolink:PhenotypicFeature Myotonia An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. SNOMEDCT_US:3434004|UMLS:C0027125|MSH:D009222 hp.json Delayed relaxation of muscle fibers after contraction|Delayed relaxation of muscle fibres after contraction http://purl.obolibrary.org/obo/HP_0002486 CHEBI:70979 biolink:ChemicalSubstance N-isobutyrylglycine An N-acylglycine in which the acyl group is specified as isobutryl. PMID:17712735|PMID:14723814|PMID:22770225|Reaxys:1762789|PMID:7360517|HMDB:HMDB0000730|PMID:23062437|PMID:7408214|PMID:20836999|PMID:8548022|PMID:20528888 hp.json isobutyrylglycine|N-(2-methylpropanoyl)glycine|isobutanoylglycine|[(2-methylpropanoyl)amino]acetic acid|N-isobutanoylglycine http://purl.obolibrary.org/obo/CHEBI_70979 3_STAR CHEBI:33984 biolink:ChemicalSubstance fucose Any deoxygalactose that is deoxygenated at the 6-position. KEGG:C00382|CAS:7724-73-4|PMID:12651883 hp.json Fuc|6-Deoxygalactose|fucose|6-deoxygalactose|Fucose http://purl.obolibrary.org/obo/CHEBI_33984 3_STAR HP:0100839 biolink:PhenotypicFeature Hepatic agenesis Absence of the liver owing to a failure of the liver to develop. SNOMEDCT_US:3650004|UMLS:C0266258 hp.json Liver agenesis|Failed liver development http://purl.obolibrary.org/obo/HP_0100839 UBERON:0004118 biolink:AnatomicalEntity vasculature of iris A vasculature that is part of a iris [Automatically generated definition]. ZFA:0005568 hp.json iris vasculature|iris blood vessels|iris vascular network|vascular network of iris http://purl.obolibrary.org/obo/UBERON_0004118 pheno_slim HP:0002480 biolink:PhenotypicFeature Hepatic encephalopathy Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. SNOMEDCT_US:13920009|UMLS:C0019151|MSH:D006501|SNOMEDCT_US:449902003 hp.json http://purl.obolibrary.org/obo/HP_0002480 UBERON:0004119 biolink:AnatomicalEntity endoderm-derived structure An anatomical structure that develops (entirely or partially) from the endoderm. hp.json http://purl.obolibrary.org/obo/UBERON_0004119 grouping_class UBERON:0004116 biolink:AnatomicalEntity nerve of tympanic cavity A nerve that is part of a tympanic cavity [Automatically generated definition]. EMAPA:37777|MA:0001222 hp.json tympanic cavity nerves|middle ear anatomical cavity nerve|nerve of middle ear cavity|middle ear cavity nerve|nerve of anatomical cavity of middle ear|cavity of middle ear nerve|anatomical cavity of middle ear nerve|nerve of middle ear anatomical cavity|tympanic cavity nerve|nerve of cavity of middle ear http://purl.obolibrary.org/obo/UBERON_0004116 HP:0100837 biolink:PhenotypicFeature Atrophodermia vermiculata Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. SNOMEDCT_US:400059005|SNOMEDCT_US:400126005|MSH:C537412|UMLS:C0263428 hp.json Vermiculata atrophoderma http://purl.obolibrary.org/obo/HP_0100837 HP:0100838 biolink:PhenotypicFeature Recurrent cutaneous abscess formation An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. UMLS:C4021957 hp.json http://purl.obolibrary.org/obo/HP_0100838 CHEBI:18367 biolink:ChemicalSubstance phosphate(3-) A phosphate ion that is the conjugate base of hydrogenphosphate. Beilstein:3903772|Reaxys:3903772|Gmelin:1997|CAS:14265-44-2|PDBeChem:PO4|CAS:14265-44-2|KEGG:C00009 hp.json [PO4](3-)|PHOSPHATE ION|Phosphate|tetraoxophosphate(3-)|tetraoxophosphate(V)|phosphate|tetraoxidophosphate(3-)|PO4(3-)|Orthophosphate http://purl.obolibrary.org/obo/CHEBI_18367 3_STAR UBERON:0004117 biolink:AnatomicalEntity pharyngeal pouch An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches. AAO:0011113|XAO:0000282|Wikipedia:Pharyngeal_pouch_(embryology)|EHDAA:1086|NCIT:C34252|EMAPA:32752|VHOG:0001203|EHDAA:617|UMLS:C0231067|EHDAA:1669|FMA:293063|ZFA:0001106|EHDAA:579|TAO:0001106|EFO:0003627|SCTID:34674002 hp.json pharyngeal pouches|visceral pouch|branchial pouch|branchial pouch|visceral pouches http://purl.obolibrary.org/obo/UBERON_0004117 pheno_slim|efo_slim|vertebrate_core HP:0100835 biolink:PhenotypicFeature Benign neoplasm of the central nervous system UMLS:C0347509|SNOMEDCT_US:92048008 hp.json Benign neoplasm of the CNS http://purl.obolibrary.org/obo/HP_0100835 UBERON:0004114 biolink:AnatomicalEntity tympanic cavity Small cavity surrounding the bones of the middle ear. BTO:0002098|FMA:56461|EHDAA2:0004119|EV:0100358|EMAPA:37778 hp.json tympanum|middle-ear cavity|anatomical cavity of middle ear|cavitas tympanica|cavitas tympani|middle ear cavity|cavity of middle ear http://purl.obolibrary.org/obo/UBERON_0004114 HP:0002483 biolink:PhenotypicFeature Bulbar signs UMLS:C1856507 hp.json http://purl.obolibrary.org/obo/HP_0002483 HP:0100836 biolink:PhenotypicFeature Malignant neoplasm of the central nervous system A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. UMLS:C0348374|SNOMEDCT_US:372062007 hp.json Malignant neoplasm of the CNS http://purl.obolibrary.org/obo/HP_0100836 UBERON:0004115 biolink:AnatomicalEntity blood vessel of tympanic cavity A blood vessel that is part of a tympanic cavity [Automatically generated definition]. EMAPA:37775|MA:0001219 hp.json blood vessel of middle ear cavity|anatomical cavity of middle ear blood vessel|tympanic cavity blood vessel|blood vessel of middle ear anatomical cavity|cavity of middle ear blood vessel|blood vessel of anatomical cavity of middle ear|middle ear cavity blood vessel|middle ear blood vessel|blood vessel of cavity of middle ear|middle ear anatomical cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0004115 HP:0100833 biolink:PhenotypicFeature Neoplasm of the small intestine The presence of a neoplasm of the small intestine. SNOMEDCT_US:126832004|UMLS:C0345832|NCIT:C3262 hp.json Small intestine tumour|Small intestine tumor http://purl.obolibrary.org/obo/HP_0100833 UBERON:0004113 biolink:AnatomicalEntity muscle of auditory ossicle A muscle of the tympanic cavity that attaches to an auditory ossicle. EMAPA:37776|UMLS:C1513769|FMA:49026|MA:0000256|NCIT:C33148 hp.json ossicular muscle|muscle of middle ear|tympanic cavity muscle|muscle of auditory ossicles|auditory ossicles muscle|muscle of tympanic cavity http://purl.obolibrary.org/obo/UBERON_0004113 HP:0100834 biolink:PhenotypicFeature Neoplasm of the large intestine The presence of a neoplasm of the large intestine. MSH:D015179|SNOMEDCT_US:126837005|UMLS:C0009404|NCIT:C3262 hp.json Large intestine tumor|Large intestine tumour http://purl.obolibrary.org/obo/HP_0100834 HP:0100842 biolink:PhenotypicFeature Septo-optic dysplasia Underdevelopment of the optic nerve and absence of the septum pellucidum. SNOMEDCT_US:7611002|UMLS:C0338503|MSH:D025962 hp.json De Morsier syndrome http://purl.obolibrary.org/obo/HP_0100842 HP:0100843 biolink:PhenotypicFeature obsolete Glioblastoma hp.json http://purl.obolibrary.org/obo/HP_0100843 HP:0100840 biolink:PhenotypicFeature Aplasia/Hypoplasia of the eyebrow Absence or underdevelopment of the eyebrow. UMLS:C3551430|UMLS:C4021956|UMLS:C2266639|UMLS:C1848765 hp.json Absence of eyebrow|Lack of eyebrow|Sparse to absent eyebrows|Missing eyebrow|Hypotrophic eyebrow|Agenesis of eyebrow|Sparse or absent eyebrows|Sparse/absent eyebrows http://purl.obolibrary.org/obo/HP_0100840 HP:0100841 biolink:PhenotypicFeature Microgastria A developmental anomaly wtih a small tubular or saccular midline stomach. SNOMEDCT_US:83714006|UMLS:C0266150 hp.json http://purl.obolibrary.org/obo/HP_0100841 PR:P00439 biolink:Protein phenylalanine-4-hydroxylase (human) A phenylalanine-4-hydroxylase that is encoded in the genome of human. UniProtKB:P00439 hp.json PAH|Phe-4-monooxygenase (human)|hPAH http://purl.obolibrary.org/obo/PR_P00439 UBERON:0004180 biolink:AnatomicalEntity mammary gland fat The mammary fat is an adipose structure in the gland that is invaded by the mammary ducts. EMAPA:35539|MA:0002911 hp.json fat tissue of lactiferous gland|adipose tissue of lactiferous gland|mammary gland adipose tissue|lactiferous gland fatty tissue|lobe of mammary gland adipose tissue|fatty tissue of lobe of mammary gland|mammary gland fat tissue|fatty tissue of mammary gland|lobe of mammary gland fat tissue|lobe of breast adipose tissue|fat tissue of lobe of mammary gland|mammary gland fatty tissue|fat tissue of mammary gland|fat tissue of lobe of breast|lobe of mammary gland fatty tissue|lobe of breast fat tissue|fatty tissue of lactiferous gland|adipose tissue of mammary gland|lactiferous gland adipose tissue|lactiferous gland fat tissue|fatty tissue of lobe of breast|lobe of breast fatty tissue http://purl.obolibrary.org/obo/UBERON_0004180 UBERON:0004188 biolink:AnatomicalEntity glomerular epithelium The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. BTO:0001515|EMAPA:35458|MA:0002847 hp.json kidney glomerular epithelium|epithelium of kidney glomerulus|epithelium of glomerulus|glomerular epithelial cell|epithelium of renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004188 human_reference_atlas UBERON:0004185 biolink:AnatomicalEntity endodermal part of digestive tract A portions of the gut that is derived from endoderm. EMAPA:32930 hp.json gut endoderm|endodermal gut http://purl.obolibrary.org/obo/UBERON_0004185 UBERON:0004183 biolink:AnatomicalEntity placental labyrinth blood vessel The embryonic vessels grow through the layer to come in close contact with the maternal blood supply. hp.json labyrinthine layer blood vessel|placenta labyrinth blood vessel|blood vessel of placenta labyrinth|blood vessel of labyrinthine layer|blood vessel of labyrinthine layer of placenta|labyrinthine layer of placenta blood vessel http://purl.obolibrary.org/obo/UBERON_0004183 UBERON:0004184 biolink:AnatomicalEntity prostate gland stroma The prostate gland stroma is made up of the mesenchymal or fibroblast cells of the prostate gland. NCIT:C13104|EMAPA:35714|MA:0002912|FMA:45719|UMLS:C1521760 hp.json stroma of glandular part of prostate|prostatic stroma|stroma of prostate gland|stroma of prostate|prostate stroma http://purl.obolibrary.org/obo/UBERON_0004184 human_reference_atlas UBERON:0004182 biolink:AnatomicalEntity mammary gland cord The solid cord of epithelial cells that emerges from the mammary bud and grows down from the primary mammary mesenchyme and into a second stromal compartment, the fat pad precursor, beneath the dermis. hp.json mammary cord|mammary sprout|lactiferous gland cord http://purl.obolibrary.org/obo/UBERON_0004182 HP:0100848 biolink:PhenotypicFeature Neoplasm of the male external genitalia A tumor (abnormal growth of tissue) of the male external genitalia. NCIT:C3262|UMLS:C4020950 hp.json Neoplasia of the male external genitalia http://purl.obolibrary.org/obo/HP_0100848 HP:0100849 biolink:PhenotypicFeature Neoplasm of the scrotum A tumor (abnormal growth of tissue) of the scrotum. SNOMEDCT_US:126905005|UMLS:C0341790|NCIT:C3262 hp.json Scrotum tumour|Neoplasia of the scrotum|Scrotum tumor http://purl.obolibrary.org/obo/HP_0100849 HP:0100847 biolink:PhenotypicFeature Palmoplantar pustulosis A chronic, relapsing, pustular eruption that is localized to the palms and soles. MSH:D011565|UMLS:C0030246|SNOMEDCT_US:27520001|MEDDRA:10050185 hp.json Palmoplantar pustules|Pustulosis palmaris et plantaris|Pustulosis of palms and soles http://purl.obolibrary.org/obo/HP_0100847 CHEBI:18310 biolink:ChemicalSubstance alkane An acyclic branched or unbranched hydrocarbon having the general formula CnH2n+2, and therefore consisting entirely of hydrogen atoms and saturated carbon atoms. KEGG:C01371 hp.json alcane|alkanes|Alkan|RH|alcano|an alkane|alkane|alcanos|Alkane|alcanes http://purl.obolibrary.org/obo/CHEBI_18310 3_STAR NCBITaxon:8782 biolink:OrganismalEntity Aves GC_ID:1 hp.json birds|birds|avian http://purl.obolibrary.org/obo/NCBITaxon_8782 HP:0100844 biolink:PhenotypicFeature Pancreatic fistula MSH:D010185|UMLS:C0030290|SNOMEDCT_US:25803005 hp.json http://purl.obolibrary.org/obo/HP_0100844 UBERON:0004189 biolink:AnatomicalEntity glomerular endothelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. BTO:0004631 hp.json endothelium of renal glomerulus|renal glomerulus endothelium http://purl.obolibrary.org/obo/UBERON_0004189 HP:0100845 biolink:PhenotypicFeature Anaphylactic shock An acute hypersensitivity reaction due to exposure to a previously encountered antigen. MSH:D000707|SNOMEDCT_US:39579001|UMLS:C0002792 hp.json Anaphylaxis http://purl.obolibrary.org/obo/HP_0100845 HP:0100853 biolink:PhenotypicFeature Hypoplastic areola Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. UMLS:C3276032 hp.json Hypoplastic areolae http://purl.obolibrary.org/obo/HP_0100853 hposlim_core HP:0100854 biolink:PhenotypicFeature Aplasia of the musculature Absence of the musculature. UMLS:C4021955 hp.json Absent musculature http://purl.obolibrary.org/obo/HP_0100854 HP:0100851 biolink:PhenotypicFeature Abnormal emotion/affect behavior An abnormality of emotional behaviour. UMLS:C4020949 hp.json Abnormal emotion/affect behaviour http://purl.obolibrary.org/obo/HP_0100851 HP:0100852 biolink:PhenotypicFeature Abnormal fear/anxiety-related behavior An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. UMLS:C4018849 hp.json Abnormal fear/anxiety-related behaviour http://purl.obolibrary.org/obo/HP_0100852 HP:0100850 biolink:PhenotypicFeature Neoplasm of the penis A tumor (abnormal growth of tissue) of the penis. UMLS:C0030849|NCIT:C3262|MSH:D010412|SNOMEDCT_US:126896003 hp.json Penis tumor|Penis tumour|Neoplasia of the penis http://purl.obolibrary.org/obo/HP_0100850 UBERON:0004176 biolink:AnatomicalEntity external genitalia The external genitalia are the outer sex organs, such as the penis or vulva in mammals. FMA:45643|SCTID:362207005 hp.json external reproductive organ|external sex organ|external genitalia http://purl.obolibrary.org/obo/UBERON_0004176 organ_slim|pheno_slim UBERON:0004177 biolink:AnatomicalEntity hemopoietic organ Organ that is part of the hematopoietic system. BTO:0004605|FMA:7143|EMAPA:37665|MA:0000747|SCTID:361338006 hp.json hematopoeitic organ|organa haemopoietica organ|lymph organ|haemopoietic system organ|hematopoietic system organ|organ of haematological system|organ of organa haemopoietica|hematopoeitic or lymphoid organ|lymphoid organ|organ of hematopoietic system|haematological system organ|organ of haemopoietic system http://purl.obolibrary.org/obo/UBERON_0004177 organ_slim|pheno_slim UBERON:0004175 biolink:AnatomicalEntity internal genitalia The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals. FMA:45652 hp.json internal sex organ|internal reproductive organ|internal genitalia|internal genitals http://purl.obolibrary.org/obo/UBERON_0004175 organ_slim|pheno_slim HP:0100859 biolink:PhenotypicFeature Dilatation of superior mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery . UMLS:C0264974|SNOMEDCT_US:65498003 hp.json Superior mesenteric artery aneurysm http://purl.obolibrary.org/obo/HP_0100859 HP:0100857 biolink:PhenotypicFeature Flat sella turcica An abnormally flat sella turcica. UMLS:C4021952 hp.json http://purl.obolibrary.org/obo/HP_0100857 HP:0100858 biolink:PhenotypicFeature Dilatation of celiac artery Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. UMLS:C0264969|SNOMEDCT_US:111290000 hp.json Celiac artery aneurysm|Dilatation of coeliac artery|Coeliac artery aneurysm http://purl.obolibrary.org/obo/HP_0100858 HP:0100855 biolink:PhenotypicFeature Triceps hypoplasia Hypoplasia of the triceps muscle. UMLS:C4021954 hp.json Underdeveloped triceps|Small triceps http://purl.obolibrary.org/obo/HP_0100855 UBERON:0004178 biolink:AnatomicalEntity aorta smooth muscle tissue The nonstriated, involuntary muscle tissue located in the wall of the aorta. NCIT:C49191|EFO:0002775|BTO:0001685|MA:0000702|UMLS:C1706825|CALOHA:TS-0048|EMAPA:35135 hp.json aortic smooth muscle|aorta non-striated muscle|aorta smooth muscle http://purl.obolibrary.org/obo/UBERON_0004178 pheno_slim|efo_slim HP:0100856 biolink:PhenotypicFeature Poorly ossified vertebrae Decreased ossification of the vertebral bodies. UMLS:C4021953 hp.json http://purl.obolibrary.org/obo/HP_0100856 HP:0100864 biolink:PhenotypicFeature Short femoral neck An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). UMLS:C1836184 hp.json Short femoral necks|Short neck of thighbone|Hypoplastic femoral neck|Hypoplasia of the femoral neck http://purl.obolibrary.org/obo/HP_0100864 hposlim_core HP:0100865 biolink:PhenotypicFeature Broad ischia Increased width of the ischium, which forms the lower and back part of the hip bone. UMLS:C1836868 hp.json http://purl.obolibrary.org/obo/HP_0100865 HP:0100862 biolink:PhenotypicFeature Aplasia of the femoral head UMLS:C4021950 hp.json Absent femoral head http://purl.obolibrary.org/obo/HP_0100862 HP:0100863 biolink:PhenotypicFeature Aplasia of the femoral neck UMLS:C4021949 hp.json Absent neck of thighbone http://purl.obolibrary.org/obo/HP_0100863 HP:0100860 biolink:PhenotypicFeature Dilatation of Inferior mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery . SNOMEDCT_US:195289005|UMLS:C0340625 hp.json Inferior mesenteric artery aneurysm http://purl.obolibrary.org/obo/HP_0100860 HP:0100861 biolink:PhenotypicFeature Sclerotic vertebral body Increase in bone density of the vertebral body. UMLS:C4021951 hp.json Vertebral body sclerosis http://purl.obolibrary.org/obo/HP_0100861 CHEBI:33937 biolink:ChemicalSubstance macronutrient Any nutrient required in large quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Macronutrients are usually chemical elements (carbon, hydrogen, nitrogen, oxygen, phosphorus and sulfur) that humans consume in the largest quantities. Calcium, sodium, magnesium and potassium are sometimes included as macronutrients because they are required in relatively large quantities compared with other vitamins and minerals. hp.json macronutrients http://purl.obolibrary.org/obo/CHEBI_33937 3_STAR|1_STAR UBERON:0004161 biolink:AnatomicalEntity septum transversum A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. UMLS:C0231004|SCTID:308819008|VHOG:0000019|EHDAA2:0001829|NCIT:C34296|EMAPA:16318|Wikipedia:Septum_transversum|EHDAA:736|FMA:295593 hp.json transverse septum|transverse septum http://purl.obolibrary.org/obo/UBERON_0004161 pheno_slim UBERON:0004160 biolink:AnatomicalEntity proepicardium An embryonic group of progenitor cells that forms from an outpouching of the septum transversum near the venous pole of the heart and gives rise to the epicardium. ZFA:0005808|EMAPA:36025 hp.json proepicardial cluster|proepicardial organ http://purl.obolibrary.org/obo/UBERON_0004160 PR:P00450 biolink:Protein ceruloplasmin (human) A ceruloplasmin that is encoded in the genome of human. UniProtKB:P00450 hp.json CP|hCP|ferroxidase (human) http://purl.obolibrary.org/obo/PR_P00450 HP:0100869 biolink:PhenotypicFeature Palmar telangiectasia The presence of telangiectases on the skin of palm of hand. UMLS:C4020948 hp.json Teleangiectases of palms|Telangiectases of palms and soles http://purl.obolibrary.org/obo/HP_0100869 HP:0100866 biolink:PhenotypicFeature Short iliac bones Underdevelopment of the iliac bones. UMLS:C1849063 hp.json Short pelvis bones http://purl.obolibrary.org/obo/HP_0100866 HP:0100867 biolink:PhenotypicFeature Duodenal stenosis The narrowing or partial blockage of a portion of the duodenum. UMLS:C0238093|MSH:C535720|SNOMEDCT_US:73120006|UMLS:C1860791|MEDDRA:10050094 hp.json Duodenal stenosis/atresia http://purl.obolibrary.org/obo/HP_0100867 hposlim_core HP:0100875 biolink:PhenotypicFeature Hemimacroglossia Increased length and width of one half of the tounge. UMLS:C4021947|UMLS:C4280287 hp.json Hyperplasia of half of the tongue|Hemiglossal hypertrophy|Increased size of half of the tongue|Hypertrophy of half of the tongue|Large half of tongue|Hemiglossal hyperplasia http://purl.obolibrary.org/obo/HP_0100875 HP:0100876 biolink:PhenotypicFeature Infra-orbital crease Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. UMLS:C1857280 hp.json Infraorbital creases|Infraorbital crease|Crease in skin under the eye|Underorbital skin creases|Groove in skin under the eye http://purl.obolibrary.org/obo/HP_0100876 hposlim_core HP:0100874 biolink:PhenotypicFeature Thick hair Increased density of hairs, i.e., and elevated number of hairs per unit area. UMLS:C4073184 hp.json Increased hair density|Increased follicular density|Thick hair http://purl.obolibrary.org/obo/HP_0100874 hposlim_core HP:0100871 biolink:PhenotypicFeature Abnormal palm morphology An abnormality of the palm, that is, of the front of the hand. UMLS:C4021948 hp.json Abnormality of the palm http://purl.obolibrary.org/obo/HP_0100871 HP:0100872 biolink:PhenotypicFeature Abnormality of the plantar skin of foot An abnormality of the plantar part of foot, that is of the soles of the feet. UMLS:C4020946 hp.json Minor feet anomalies http://purl.obolibrary.org/obo/HP_0100872 HP:0100870 biolink:PhenotypicFeature Plantar telangiectasia Telangiectases (small dilated blood vessels) located on the skin of sole of foot. UMLS:C4020947 hp.json Teleangiectases of soles|Plantar teleangiectasia|Telangiectases of soles http://purl.obolibrary.org/obo/HP_0100870 UBERON:0004151 biolink:AnatomicalEntity cardiac chamber A cardiac chamber surrounds an enclosed cavity within the heart. SCTID:276456008|FMA:7095|OpenCyc:Mx4rmexpjPdAEduAAAAOpmP6tw hp.json chamber of heart|heart chamber http://purl.obolibrary.org/obo/UBERON_0004151 CHEBI:33942 biolink:ChemicalSubstance ribose Any aldopentose where the open-chain form has all the hydroxy groups on the same side in the Fischer projection. Occurrs in two enantiomeric forms, D- and L-ribose, of which only the former is found in nature. hp.json Rib|ribose|ribo-pentose http://purl.obolibrary.org/obo/CHEBI_33942 3_STAR CHEBI:79346 biolink:ChemicalSubstance anionic ganglioside Any carbohydrate acid derivative anion obtained by deprotonation of at least one of the neuraminosyl carboxy groups of a ganglioside. hp.json ganglioside anion http://purl.obolibrary.org/obo/CHEBI_79346 3_STAR HP:0100879 biolink:PhenotypicFeature Enlarged ovaries UMLS:C0392039|SNOMEDCT_US:66998000 hp.json Enlarged ovaries http://purl.obolibrary.org/obo/HP_0100879 HP:0100877 biolink:PhenotypicFeature Renal diverticulum Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. UMLS:C2315541|SNOMEDCT_US:433036004 hp.json Caliceal diverticulum|Pelvic diverticulum|Renal pelvic diverticulum http://purl.obolibrary.org/obo/HP_0100877 HP:0100878 biolink:PhenotypicFeature Enlarged uterus SNOMEDCT_US:198319004|UMLS:C0151994 hp.json Enlarged uterus http://purl.obolibrary.org/obo/HP_0100878 GO:0032956 biolink:BiologicalProcess regulation of actin cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. hp.json regulation of actin cytoskeleton organization and biogenesis|regulation of actin cytoskeleton organisation http://purl.obolibrary.org/obo/GO_0032956 UBERON:0006719 biolink:AnatomicalEntity lateral pterygoid muscle Pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors, is innervated by the lateral pterygoid nerve branches, and attaches to the condylar process of the mandible and temporomandibular joint (TMJ) capsule, and the cranial base. FMA:49015|MFMO:0000074|UMLS:C1517045|EMAPA:25140|NCIT:C32570|MA:0002360 hp.json m. pterygoideus lateralis|pterygoid lateralis|m. pterygoideus externus|pterygoideus externus|musculus pterygoideus externus|lateral pteregoid muscle|musculus pterygoides lateralis|pterygoideus lateral muscle|external pterygoid muscle|pterygoideus lateral|lateral pteregoid|lateral pterygoid|musculus pterygoideus lateralis|pterygoideus externus muscle http://purl.obolibrary.org/obo/UBERON_0006719 pheno_slim UBERON:0006718 biolink:AnatomicalEntity medial pterygoid muscle The medial pterygoid is a pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors and is innervated by the nerve to the medial pterygoid and attaches to the cranial base and the medial side of the mandibular angle. BTO:0005226|UMLS:C1512882|MFMO:0000083|NCIT:C32861|EMAPA:25141|FMA:49011|MA:0002361 hp.json internal pterygoid muscle|pterygoid medialis|internal pterygoid|pterygoideus internus|pterygoideus medial|medial pterygoid|musculus pterygoideus medialis|pterygoidei internus|musculus pterygoideus internus|pterygoideus medialis http://purl.obolibrary.org/obo/UBERON_0006718 pheno_slim UBERON:0006717 biolink:AnatomicalEntity autopodial skeleton The collection of all skeletal elements in an autopodium region. VSAO:0005019 hp.json autopod skeleton|skeletal parts of autopod|autopodial skeleton|autopodium|skeleton of autopod http://purl.obolibrary.org/obo/UBERON_0006717 UBERON:0006716 biolink:AnatomicalEntity mesopodium region The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus). hp.json carpus/tarsus|mesopod|mesopodial limb segment|mesopodial segment http://purl.obolibrary.org/obo/UBERON_0006716 HP:0002418 biolink:PhenotypicFeature Abnormal midbrain morphology An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. UMLS:C4021755 hp.json Abnormality of the mesencephalon|Abnormal shape of midbrain|Abnormality of the midbrain|Abnormality of midbrain morphology http://purl.obolibrary.org/obo/HP_0002418 HP:0002419 biolink:PhenotypicFeature Molar tooth sign on MRI An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. UMLS:C1865060 hp.json Molar tooth sign|Molar tooth sign on brain imaging|Molar tooth sign on imaging http://purl.obolibrary.org/obo/HP_0002419 HP:0002416 biolink:PhenotypicFeature Subependymal cysts Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. UMLS:C1833431 hp.json Subependymal germinolytic cyst|Subependymal pseudocyst http://purl.obolibrary.org/obo/HP_0002416 HP:0002410 biolink:PhenotypicFeature Aqueductal stenosis Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. MSH:D006849|UMLS:C2936786 hp.json Aqueduct stenosis|Narrowing of aqueduct of Sylvius|Aqueduct of Sylvius stenosis http://purl.obolibrary.org/obo/HP_0002410 HP:0002411 biolink:PhenotypicFeature Myokymia Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. SNOMEDCT_US:27678003|UMLS:C0684219|MSH:D020385 hp.json http://purl.obolibrary.org/obo/HP_0002411 HP:0002414 biolink:PhenotypicFeature Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. SNOMEDCT_US:67531005|Fyler:4157|UMLS:C0080178|MSH:D016135 hp.json Split spine http://purl.obolibrary.org/obo/HP_0002414 HP:0002415 biolink:PhenotypicFeature Leukodystrophy Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. SNOMEDCT_US:192781003|UMLS:C0023520 hp.json Degeneration of white matter of brain http://purl.obolibrary.org/obo/HP_0002415 UBERON:0006726 biolink:AnatomicalEntity outer canthus A corner of the outer (lateral) part of an eye. EHDAA2:0000910|VHOG:0001571|UMLS:C1711189|MA:0001264|EMAPA:37458|EHDAA:9039|NCIT:C49597|FMA:59315 hp.json lateral canthus of eye|temporal canthus|lateral angle of eye|lateral canthus|outer canthi|lateral palpebral commissure http://purl.obolibrary.org/obo/UBERON_0006726 UBERON:0006723 biolink:AnatomicalEntity cochlear modiolus The central cone shaped core of spongy bone about which turns the spiral canal. NCIT:C33135|FMA:61278|MA:0001182|UMLS:C0229503|BTO:0001693|EMAPA:35575 hp.json modiolus cochleae|modiolus of cochlea|cochlea modiolus|columella cochleae|modiolus http://purl.obolibrary.org/obo/UBERON_0006723 organ_slim|pheno_slim UBERON:0006722 biolink:AnatomicalEntity manubrium of malleus The handle of the malleus; the portion that extends downward, inward, and backward from the neck of the malleus; it is embedded throughout its length in the tympanic membrane. MA:0002985|FMA:52760 hp.json manubrium mallei|malleal manubrium|manubrium of malleus|manubrium of malleus|handle of malleus|malleus handle|malleus handle|malleus manubrium http://purl.obolibrary.org/obo/UBERON_0006722 pheno_slim UBERON:0006720 biolink:AnatomicalEntity pterygoid muscle AAO:0010730|EMAPA:25139|MESH:D011626|GAID:147 hp.json pterygoid|pterygoideus muscle|pterygoideus http://purl.obolibrary.org/obo/UBERON_0006720 grouping_class GO:0032946 biolink:BiologicalProcess positive regulation of mononuclear cell proliferation Any process that activates or increases the frequency, rate or extent of mononuclear cell proliferation. hp.json upregulation of mononuclear cell proliferation|up regulation of mononuclear cell proliferation|positive regulation of PBMC proliferation|stimulation of mononuclear cell proliferation|positive regulation of peripheral blood mononuclear cell proliferation|up-regulation of mononuclear cell proliferation|activation of mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0032946 GO:0032945 biolink:BiologicalProcess negative regulation of mononuclear cell proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of mononuclear cell proliferation. hp.json negative regulation of peripheral blood mononuclear cell proliferation|negative regulation of PBMC proliferation http://purl.obolibrary.org/obo/GO_0032945 GO:0032944 biolink:BiologicalProcess regulation of mononuclear cell proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. hp.json regulation of peripheral blood mononuclear cell proliferation|regulation of PBMC proliferation http://purl.obolibrary.org/obo/GO_0032944 GO:0032943 biolink:BiologicalProcess mononuclear cell proliferation The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. hp.json peripheral blood mononuclear cell proliferation|PBMC proliferation http://purl.obolibrary.org/obo/GO_0032943 GO:0032941 biolink:BiologicalProcess secretion by tissue The controlled release of a substance by a tissue. hp.json expulsion of gland contents|tissue secretion http://purl.obolibrary.org/obo/GO_0032941 HP:0002427 biolink:PhenotypicFeature Expressive aphasia Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. SNOMEDCT_US:229665008|UMLS:C0003550|UMLS:C0917814|SNOMEDCT_US:229654003|MSH:D001039|SNOMEDCT_US:328681008 hp.json Loss of expressive speech|Non-fluent aphasia|Broca's aphasia|Motor aphasia http://purl.obolibrary.org/obo/HP_0002427 HP:0002421 biolink:PhenotypicFeature Poor head control Difficulty to maintain correct position of the head while standing or sitting. UMLS:C1836038 hp.json Poor head control http://purl.obolibrary.org/obo/HP_0002421 CHEBI:55370 biolink:ChemicalSubstance imidazolidinone An imidazolidine containing one or more oxo groups. hp.json imidazolidinones http://purl.obolibrary.org/obo/CHEBI_55370 3_STAR HP:0002425 biolink:PhenotypicFeature Anarthria A defect in the motor ability that enables speech. UMLS:C0234517|SNOMEDCT_US:48257004 hp.json Loss of articulate speech http://purl.obolibrary.org/obo/HP_0002425 HP:0002423 biolink:PhenotypicFeature Long-tract signs UMLS:C1865903 hp.json Long tract signs http://purl.obolibrary.org/obo/HP_0002423 UBERON:0006715 biolink:AnatomicalEntity radio-ulna Paired, long bones of endochondral origin formed by the fusion of the radius and ulna. AAO:0000901|XAO:0003209 hp.json radioulna|radius-ulna|radius+ulna http://purl.obolibrary.org/obo/UBERON_0006715 GO:0032940 biolink:BiologicalProcess secretion by cell The controlled release of a substance by a cell. Wikipedia:Secretion hp.json cellular secretion http://purl.obolibrary.org/obo/GO_0032940 GO:0150099 biolink:BiologicalProcess neuron-glial cell signaling Cell-cell signaling that mediates the transfer of information from a neuron to a glial cell. This signalling has been shown to be mediated by various molecules released by different types of neurons, e.g. glutamate, gamma-amino butyric acid (GABA), noradrenaline, acetylcholine, dopamine and adenosine. hp.json neurone-glia signaling|neuron-glia signaling|neuron-glial cell signalling|neurone-glial cell signalling|neurone-glial cell signaling|neuron-glia signalling|neurone-glia signalling http://purl.obolibrary.org/obo/GO_0150099 GO:0150098 biolink:BiologicalProcess glial cell-neuron signaling Cell-cell signaling that mediates the transfer of information from a glial cell to a neuron. This signaling has been shown to be mediated by various molecules, depending on which glial cells release them, and in which tissues the signalling occurs, e.g. microglial cell-derived nerve growth factor (NGF) in the retina, or microglial cell-derived superoxide ions in the cerebellum. hp.json glial cell-neurone singaling|glia-neuron signaling|glia-neurone signaling|glia-neurone signalling|glia-neuron signalling|glial cell-neurone signalling|glial cell- neuron signalling http://purl.obolibrary.org/obo/GO_0150098 GO:0019953 biolink:BiologicalProcess sexual reproduction A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid). Wikipedia:Sexual_reproduction hp.json http://purl.obolibrary.org/obo/GO_0019953 HP:0002408 biolink:PhenotypicFeature Cerebral arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. SNOMEDCT_US:234142008|Fyler:2201|UMLS:C0917804|MSH:D002538 hp.json Cerebral AV malformation http://purl.obolibrary.org/obo/HP_0002408 HP:0002406 biolink:PhenotypicFeature Limb dysmetria A type of dysmetria involving the limbs. UMLS:C4280577|UMLS:C1854489 hp.json Uncoordinated limb movement http://purl.obolibrary.org/obo/HP_0002406 HP:0002403 biolink:PhenotypicFeature Positive Romberg sign The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. UMLS:C0240914|SNOMEDCT_US:298310004 hp.json http://purl.obolibrary.org/obo/HP_0002403 HP:0002404 biolink:PhenotypicFeature Thickened superior cerebellar peduncle Increased width of the superior cerebellar peduncle. UMLS:C4021756 hp.json Thick cerebellar peduncles http://purl.obolibrary.org/obo/HP_0002404 HP:0002401 biolink:PhenotypicFeature Stroke-like episode No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. UMLS:C1857287 hp.json Stroke-like episodes|Strokelike episodes http://purl.obolibrary.org/obo/HP_0002401 GO:0150079 biolink:BiologicalProcess negative regulation of neuroinflammatory response Any process that stops, prevents or reduces the frequency, rate or extent of neuroinflammatory response. hp.json http://purl.obolibrary.org/obo/GO_0150079 GO:0150078 biolink:BiologicalProcess positive regulation of neuroinflammatory response Any process that activates or increases the frequency, rate or extent of neuroinflammatory response. hp.json http://purl.obolibrary.org/obo/GO_0150078 GO:0150077 biolink:BiologicalProcess regulation of neuroinflammatory response Any process that modulates the frequency, rate or extent of neuroinflammatory response. hp.json http://purl.obolibrary.org/obo/GO_0150077 PATO:0002468 biolink:NamedThing distensible hp.json http://purl.obolibrary.org/obo/PATO_0002468 GO:0150076 biolink:BiologicalProcess neuroinflammatory response The immediate defensive reaction by neural vertebrate tissue to infection or injury caused by chemical or physical agents. hp.json nerve tissue inflammatory response|neural tissue inflammatory response|nervous tissue inflammatory response http://purl.obolibrary.org/obo/GO_0150076 UBERON:0006762 biolink:AnatomicalEntity suspensory ligament of lens The zonule of Zinn (Zinn's membrane, ciliary zonule) is a ring of fibrous strands connecting the ciliary body with the crystalline lens of the eye. The zonule of Zinn is split into two layers: a thin layer, which lines the hyaloid fossa, and a thicker layer, which is a collection of zonular fibers. Together, the fibers are known as the suspensory ligament of the lens[WP]. Modified or toughened vitreous that suspend the lens at the equator to the non-pigmented epithelium of the ciliary zone. In zebrafish, dorsal zonules are thickened as compared to ventral zonules. In both dorsal and ventral regions, these fibers delimit the vitreous body aqueous humor boundary[ZFA]. ZFA:0005573|FMA:58838 hp.json zonula ciliaris|zonular fiber|ciliary zonule|zonules|zonule of Zinn|zonule|Zinn's membrane|zonula|suspensory ligament of the lens|ciliary zonule|zonula ciliaris http://purl.obolibrary.org/obo/UBERON_0006762 pheno_slim|human_reference_atlas|vertebrate_core HP:0002454 biolink:PhenotypicFeature Eye of the tiger anomaly of globus pallidus The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus. UMLS:C4025705 hp.json http://purl.obolibrary.org/obo/HP_0002454 UBERON:0006761 biolink:AnatomicalEntity corneo-scleral junction The edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm. MESH:D016850|ZFA:0005570|SCTID:63716004|GAID:896|FMA:58342|EMAPA:37835|EFO:0001403|Wikipedia:Corneal_limbus hp.json limbus corneae|corneal-scleral limbus|limbus corneae|sclerocorneal junction|corneoscleral junction|limbus corneae|sclerocorneal limbus|corneal-scleral limbus|corneal limbus|cornea limbus|limbus corneae|corneal limbus http://purl.obolibrary.org/obo/UBERON_0006761 pheno_slim|efo_slim|vertebrate_core UBERON:0004100 biolink:AnatomicalEntity renal collecting system The collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter. It participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and antidiuretic hormone. FMA:265239 hp.json collecting duct system|kidney collecting duct system|tubulus renalis colligens http://purl.obolibrary.org/obo/UBERON_0004100 pheno_slim|human_reference_atlas PATO:0002462 biolink:NamedThing collagenous A composition quality inhering in an bearer by virtue of the bearer's consisting of collagen. hp.json http://purl.obolibrary.org/obo/PATO_0002462 value_slim HP:0002453 biolink:PhenotypicFeature Abnormal globus pallidus morphology An abnormality of the globus pallidus. UMLS:C4025706 hp.json http://purl.obolibrary.org/obo/HP_0002453 HP:0002459 biolink:PhenotypicFeature obsolete Dysautonomia hp.json http://purl.obolibrary.org/obo/HP_0002459 HP:0002457 biolink:PhenotypicFeature Abnormal head movements SNOMEDCT_US:271799000|UMLS:C0476217 hp.json Abnormal head movements http://purl.obolibrary.org/obo/HP_0002457 UBERON:0004108 biolink:AnatomicalEntity clivus of occipital bone Part of the cranium, the clivus is a shallow depression behind the dorsum sellC& that slopes obliquely backward. It forms a gradual sloping process at the anterior most portion of the basilar occipital bone at its junction with the sphenoid bone. On axial planes, it sits just posterior to the sphenoid sinuses. Just lateral to the clivus bilaterally is the foramen lacerum which contains the internal carotid artery, proximal to its anastamosis with the Circle of Willis. Posterior to the clivus is the basilar artery. The clivus supports the upper part of the pons. FMA:75747|UMLS:C0222724|NCIT:C12494 hp.json clivus ossis occipitalis|Wackenheim's clivus line|occipital bone clivus|clivus http://purl.obolibrary.org/obo/UBERON_0004108 pheno_slim UBERON:0004105 biolink:AnatomicalEntity subungual region Region beneath a nail or claw. CALOHA:TS-2351 hp.json http://purl.obolibrary.org/obo/UBERON_0004105 pheno_slim UBERON:0006767 biolink:AnatomicalEntity head of femur The hemispheric articular surface at the upper extremity of the thigh bone[Stedman, 26th ed]. The femur head is the highest part of the thigh bone. It is supported by the neck of the femur. The head is globular and forms rather more than a hemisphere, is directed upward, medialward, and a little forward, the greater part of its convexity being above and in front. Its surface is smooth, coated with cartilage in the fresh state, except over an ovoid depression, the fovea capitis femoris, which is situated a little below and behind the center of the head, and gives attachment to the ligament of head of femur. If there is a fracture of the neck of the femur, the blood supply through the ligament becomes crucial. In orthopedic surgery, the head of the femur is important because it can undergo avascular necrosis and consequent osteochondritis dissecans. The head is removed in total hip replacement surgery [WP]. AAO:0000892|NCIT:C32718|FMA:32851|EMAPA:37541|MA:0003050|UMLS:C0015813|MESH:D005270|galen:FemoralHead hp.json femur head|caput femoris|kopf des Schenkelbeins|caput femoris|capital femoral epiphysis|acetabular head|femoral head http://purl.obolibrary.org/obo/UBERON_0006767 pheno_slim UBERON:0004106 biolink:AnatomicalEntity crus of ear Horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. NCIT:C32410|FMA:61024|UMLS:C0229319 hp.json crus of helix|crus helicis|crus of helical part of auricular cartilage http://purl.obolibrary.org/obo/UBERON_0004106 pheno_slim UBERON:0004103 biolink:AnatomicalEntity alveolar ridge One of the two jaw ridges either on the roof of the mouth between the upper teeth and the hard palate or on the bottom of the mouth behind the lower teeth[WP]. The alveolar ridges contain the sockets (alveoli) of the teeth[HP]. EMAPA:35118|FMA:313923|NCIT:C89749|MESH:D000539|GAID:215|BTO:0001383|MA:0003119|UMLS:C0447411 hp.json alveolar process|alveolar bone|alveolar margin|alveolar body|margo alveolaris http://purl.obolibrary.org/obo/UBERON_0004103 pheno_slim HP:0002450 biolink:PhenotypicFeature Abnormal motor neuron morphology Any structural anomaly that affects the motor neuron. UMLS:C4025707 hp.json Abnormal shape of motor neuron http://purl.obolibrary.org/obo/HP_0002450 HP:0002451 biolink:PhenotypicFeature Limb dystonia A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. UMLS:C0751093|MSH:D004421 hp.json http://purl.obolibrary.org/obo/HP_0002451 UBERON:0004104 biolink:AnatomicalEntity hairline Anatomical line demarcating the boundary between forehead and scalp. FMA:285412 hp.json http://purl.obolibrary.org/obo/UBERON_0004104 pheno_slim UBERON:0004101 biolink:AnatomicalEntity nasolabial region hp.json http://purl.obolibrary.org/obo/UBERON_0004101 pheno_slim UBERON:0006763 biolink:AnatomicalEntity epithelium of conjunctiva Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue. FMA:62131|UMLS:C1179037|EFO:0001916|BTO:0005131|NCIT:C32365 hp.json conjunctiva epithelium|conjunctival epithelium http://purl.obolibrary.org/obo/UBERON_0006763 pheno_slim|efo_slim PATO:0002478 biolink:NamedThing transversely striated A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel, that are oriented transversely relative to the long axis of the bearer. hp.json http://purl.obolibrary.org/obo/PATO_0002478 cell_quality|value_slim|mpath_slim HP:0002465 biolink:PhenotypicFeature Poor speech UMLS:C1848207|UMLS:C4280574 hp.json Problems speaking|Difficulty speaking|Poor speech http://purl.obolibrary.org/obo/HP_0002465 HP:0002463 biolink:PhenotypicFeature Language impairment Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. SNOMEDCT_US:62305002|UMLS:C0023015|MSH:D007806 hp.json Language impairment|Language disorder http://purl.obolibrary.org/obo/HP_0002463 HP:0002464 biolink:PhenotypicFeature Spastic dysarthria A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. MSH:D004401|SNOMEDCT_US:229684006|UMLS:C0454596 hp.json Rigid dysarthria http://purl.obolibrary.org/obo/HP_0002464 UBERON:0006757 biolink:AnatomicalEntity lateral lingual swelling During the third week there appears, immediately behind the ventral ends of the two halves of the mandibular arch, a rounded swelling named the tuberculum impar, which was described by His as undergoing enlargement to form the buccal part of the tongue. More recent researches, however, show that this part of the tongue is mainly, if not entirely, developed from a pair of lateral swellings (or distal tongue bud) which rise from the inner surface of the mandibular arch and meet in the middle line. EMAPA:17189|FMA:313628|VHOG:0000731|Wikipedia:Lateral_lingual_swelling|EHDAA2:0000911 hp.json lateral lingual prominence|tuberculum laterale|lateral swellings|tuberculum laterale|lateral swellings|tuberculum linguale laterale|tuberculum linguale laterale http://purl.obolibrary.org/obo/UBERON_0006757 UBERON:0006756 biolink:AnatomicalEntity median lingual swelling During the third week of embryological development there appears, immediately behind the ventral ends of the two halves of the mandibular arch, a rounded swelling named the tuberculum impar, which was described by His as undergoing enlargement to form the buccal part of the tongue. More recent researches, however, show that this part of the tongue is mainly, if not entirely, developed from a pair of lateral swellings which rise from the inner surface of the mandibular arch and meet in the middle line. The site of their meeting remains post-embryonically as the median sulcus of the tongue. The tuberculum impar is said to form the central part of the tongue immediately in front of the foramen cecum, but Hammar insists that it is purely a transitory structure and forms no part of the adult tongue[WP, Gray's]. EMAPA:17187|Wikipedia:Tuberculum_impar|VHOG:0000730|FMA:312476|EHDAA2:0001081|SCTID:308821003 hp.json median tongue bud|tuberculum linguale mediale|tuberculum linguale mediale|tuberculum impar|median lingual swelling|median tongue bud http://purl.obolibrary.org/obo/UBERON_0006756 HP:0002461 biolink:PhenotypicFeature Dense calcifications in the cerebellar dentate nucleus UMLS:C1859273 hp.json http://purl.obolibrary.org/obo/HP_0002461 HP:0002460 biolink:PhenotypicFeature Distal muscle weakness Reduced strength of the musculature of the distal extremities. UMLS:C1864696|SNOMEDCT_US:249942005|UMLS:C0427065 hp.json Distal limb muscle weakness|Distal limb weakness|Weakness of distal muscles|Distal paresis|Muscle weakness, distal limbs, due to neuronopathy|Muscle weakness, distal|Weakness of outermost muscles|Distal limb muscle weakness due to peripheral neuropathy|Distal muscular weakness http://purl.obolibrary.org/obo/HP_0002460 HP:0002438 biolink:PhenotypicFeature Cerebellar malformation UMLS:C4025708 hp.json http://purl.obolibrary.org/obo/HP_0002438 HP:0002439 biolink:PhenotypicFeature Frontolimbic dementia UMLS:C1836151 hp.json http://purl.obolibrary.org/obo/HP_0002439 GO:0150052 biolink:BiologicalProcess regulation of postsynapse assembly Any process that modulates the frequency, rate or extent of postsynapse assembly, the aggregation, arrangement and bonding together of a set of components to form a postsynapse. hp.json http://purl.obolibrary.org/obo/GO_0150052 goslim_synapse HP:0002436 biolink:PhenotypicFeature Occipital meningocele A herniation of meninges through a congenital bone defect in the skull in the occipital region. UMLS:C1848652|SNOMEDCT_US:445468002 hp.json http://purl.obolibrary.org/obo/HP_0002436 HP:0002435 biolink:PhenotypicFeature Meningocele Protrusion of the meninges through a defect of the skull or vertebral column. SNOMEDCT_US:171131006|MSH:D008588|UMLS:C0025299 hp.json http://purl.obolibrary.org/obo/HP_0002435 UBERON:0006742 biolink:AnatomicalEntity canthus A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. EMAPA:37457|FMA:59222 hp.json bicanthal plane|canthi|canthorum|canthus of eye|palpebral commissure|angle of eye|canthoplasty|canthus (anatomy)|bicanthal http://purl.obolibrary.org/obo/UBERON_0006742 NBO:0000929 biolink:NamedThing frequency of drinking hp.json http://purl.obolibrary.org/obo/NBO_0000929 GO:0150063 biolink:BiologicalProcess visual system development The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways. hp.json visual pathway development|optic pathway development http://purl.obolibrary.org/obo/GO_0150063 HP:0002444 biolink:PhenotypicFeature Hypothalamic hamartoma The presence of a hamartoma of the hypothalamus. UMLS:C0342418|SNOMEDCT_US:237714006|MSH:C537158 hp.json http://purl.obolibrary.org/obo/HP_0002444 HP:0002442 biolink:PhenotypicFeature Dyscalculia A specific learning disability involving mathematics and arithmetic. UMLS:C1411876|SNOMEDCT_US:47916000|UMLS:C4280576 hp.json Difficulty making arithmetical calculations http://purl.obolibrary.org/obo/HP_0002442 HP:0002448 biolink:PhenotypicFeature Progressive encephalopathy UMLS:C4280575|UMLS:C1838578 hp.json Progressive brain disease http://purl.obolibrary.org/obo/HP_0002448 HP:0002445 biolink:PhenotypicFeature Tetraplegia Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. SNOMEDCT_US:11538006|MSH:D011782|UMLS:C0034372 hp.json Quadriplegia|Paralysis of all four limbs http://purl.obolibrary.org/obo/HP_0002445 HP:0002446 biolink:PhenotypicFeature Astrocytosis Proliferation of astrocytes in the area of a lesion of the central nervous system. MSH:D005911|SNOMEDCT_US:81415000|UMLS:C3887640 hp.json Increase in astrocyte number http://purl.obolibrary.org/obo/HP_0002446 UBERON:0018707 biolink:AnatomicalEntity bladder organ A membranous sac in animals that serves as the receptacle of a liquid or contains gas. BTO:0000123 hp.json bladder http://purl.obolibrary.org/obo/UBERON_0018707 CHEBI:57977 biolink:ChemicalSubstance bilirubin(2-) A dicarboxylic acid dianion obtained by deprotonation of the two carboxy groups of bilirubin; major species at pH 7.3. Beilstein:4083310 hp.json bilirubin IXalpha|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoate|bilirubin dianion http://purl.obolibrary.org/obo/CHEBI_57977 3_STAR GO:0042480 biolink:BiologicalProcess negative regulation of eye photoreceptor cell development Any process that stops, prevents, or reduces the frequency, rate or extent of eye photoreceptor development. hp.json downregulation of eye photoreceptor cell development|down regulation of eye photoreceptor cell development|inhibition of eye photoreceptor cell development|negative regulation of eye photoreceptor development|down-regulation of eye photoreceptor cell development http://purl.obolibrary.org/obo/GO_0042480 GO:0042488 biolink:BiologicalProcess positive regulation of odontogenesis of dentin-containing tooth Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. hp.json activation of odontogenesis|positive regulation of odontogenesis of dentine-containing tooth|stimulation of odontogenesis|up-regulation of odontogenesis|up regulation of odontogenesis|positive regulation of odontogenesis of dentine-containing teeth|upregulation of odontogenesis http://purl.obolibrary.org/obo/GO_0042488 GO:0042487 biolink:BiologicalProcess regulation of odontogenesis of dentin-containing tooth Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. hp.json regulation of odontogenesis of dentine-containing teeth|regulation of odontogenesis of dentine-containing tooth http://purl.obolibrary.org/obo/GO_0042487 GO:0042482 biolink:BiologicalProcess positive regulation of odontogenesis Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth. hp.json stimulation of odontogenesis|upregulation of odontogenesis|positive regulation of tooth development|up-regulation of odontogenesis|positive regulation of odontogenesis of calcareous or chitinous tooth|up regulation of odontogenesis|activation of odontogenesis http://purl.obolibrary.org/obo/GO_0042482 GO:0042481 biolink:BiologicalProcess regulation of odontogenesis Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth. hp.json regulation of odontogenesis of calcareous or chitinous tooth|regulation of tooth development http://purl.obolibrary.org/obo/GO_0042481 GO:0042483 biolink:BiologicalProcess negative regulation of odontogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth. hp.json down-regulation of odontogenesis|down regulation of odontogenesis|negative regulation of odontogenesis of calcareous or chitinous tooth|negative regulation of tooth development|inhibition of odontogenesis|downregulation of odontogenesis http://purl.obolibrary.org/obo/GO_0042483 GO:0042489 biolink:BiologicalProcess negative regulation of odontogenesis of dentin-containing tooth Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx. hp.json negative regulation of odontogenesis of dentine-containing teeth|down regulation of odontogenesis|negative regulation of odontogenesis of dentine-containing tooth|downregulation of odontogenesis|inhibition of odontogenesis|down-regulation of odontogenesis|negative regulation of odontogenesis http://purl.obolibrary.org/obo/GO_0042489 GO:0030485 biolink:CellularComponent smooth muscle contractile fiber The contractile fiber of smooth muscle cells. hp.json http://purl.obolibrary.org/obo/GO_0030485 BSPO:0000099 biolink:NamedThing posterior_to x posterior to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that extends through an organism from head end to opposite end of body or tail. BSPO:0000099 hp.json caudal_to http://purl.obolibrary.org/obo/BSPO_0000099 BSPO:0000098 biolink:NamedThing dorsal_to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). BSPO:0000098 hp.json http://purl.obolibrary.org/obo/BSPO_0000098 PATO:0000261 biolink:NamedThing maturity A quality of a single physical entity which is held by a bearer when the latter exhibits a state of growth, differentiation, or development. hp.json http://purl.obolibrary.org/obo/PATO_0000261 attribute_slim GO:0030473 biolink:BiologicalProcess nuclear migration along microtubule The directed movement of the nucleus along microtubules within the cell, mediated by motor proteins. hp.json transport of nucleus, microtubule-mediated|microtubule-mediated nuclear migration|microtubule-dependent nucleus positioning|microtubule cytoskeleton-dependent nuclear positioning|nuclear movement, microtubule-mediated|transport of nucleus by microtubules|microtubule cytoskeleton-dependent nucleus positioning|nucleus migration|nuclear migration, microtubule-mediated|microtubule-dependent nuclear positioning http://purl.obolibrary.org/obo/GO_0030473 BSPO:0000097 biolink:NamedThing distal_to x distal to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). BSPO:0000097 hp.json http://purl.obolibrary.org/obo/BSPO_0000097 BSPO:0000096 biolink:NamedThing anterior_to x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer BSPO:0000096 hp.json http://purl.obolibrary.org/obo/BSPO_0000096 PATO:0000274 biolink:NamedThing fertility A reproductive quality inhering in a bearer by virtue of the bearer's initiating, sustaining, or supporting reproduction. hp.json http://purl.obolibrary.org/obo/PATO_0000274 disposition_slim|attribute_slim RO:0002490 biolink:NamedThing existence overlaps x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) hp.json http://purl.obolibrary.org/obo/RO_0002490 RO:0002495 biolink:NamedThing immediate transformation of x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t RO:0002495 hp.json direct_transformation_of|immediately transforms from http://purl.obolibrary.org/obo/RO_0002495 RO:0002496 biolink:NamedThing existence starts during or after x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). RO:0002496 hp.json http://purl.obolibrary.org/obo/RO_0002496 RO:0002497 biolink:NamedThing existence ends during or before x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. RO:0002497 hp.json http://purl.obolibrary.org/obo/RO_0002497 GO:0005496 biolink:MolecularActivity steroid binding Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. hp.json http://purl.obolibrary.org/obo/GO_0005496 goslim_pir RO:0002491 biolink:NamedThing existence starts and ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) RO:0002491 hp.json exists during http://purl.obolibrary.org/obo/RO_0002491 RO:0002492 biolink:NamedThing existence ends during Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. RO:0002492 hp.json ceases_to_exist_during http://purl.obolibrary.org/obo/RO_0002492 RO:0002493 biolink:NamedThing existence ends with Relation between continuant and occurrent, such that c ceases to exist at the end of p. RO:0002493 hp.json http://purl.obolibrary.org/obo/RO_0002493 RO:0002494 biolink:NamedThing transformation of x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships RO:0002494 hp.json transforms from http://purl.obolibrary.org/obo/RO_0002494 RO:0002488 biolink:NamedThing existence starts during Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. RO:0002488 hp.json begins_to_exist_during http://purl.obolibrary.org/obo/RO_0002488 RO:0002489 biolink:NamedThing existence starts with x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y). RO:0002489 hp.json http://purl.obolibrary.org/obo/RO_0002489 GO:0030449 biolink:BiologicalProcess regulation of complement activation Any process that modulates the frequency, rate or extent of complement activation. hp.json regulation of complement cascade http://purl.obolibrary.org/obo/GO_0030449 HP:0004804 biolink:PhenotypicFeature Congenital hemolytic anemia A form of hemolytic anemia with congenital onset. UMLS:C0002881|SNOMEDCT_US:42601008|MSH:D000745|UMLS:C4020827|SNOMEDCT_US:38911009 hp.json Congenital hemolytic anaemia|Neonatal hemolytic anaemia|Congenital haemolytic anaemia|Neonatal hemolytic anemia|Congenital haemolytic anemia http://purl.obolibrary.org/obo/HP_0004804 RO:0002487 biolink:NamedThing relation between physical entity and a process or stage hp.json http://purl.obolibrary.org/obo/RO_0002487 HP:0004809 biolink:PhenotypicFeature Neonatal alloimmune thrombocytopenia Low platelet count associated with maternal platelet-specific alloantibodies. MSH:D054098|SNOMEDCT_US:240305000|UMLS:C3853779 hp.json http://purl.obolibrary.org/obo/HP_0004809 RO:0002481 biolink:NamedThing is kinase activity hp.json http://purl.obolibrary.org/obo/RO_0002481 HP:0004808 biolink:PhenotypicFeature Acute myeloid leukemia A form of leukemia characterized by overproduction of an early myeloid cell. SNOMEDCT_US:17788007|UMLS:C0023467|SNOMEDCT_US:413443009|MSH:D015470|SNOMEDCT_US:91861009 hp.json Acute myeloid leukaemia|Acute myeloblastic leukemia|Acute myelocytic leukaemia|AML|Acute myelocytic leukemia|Acute myeloblastic leukaemia|Acute myelogenous leukemia|Acute myelogenous leukaemia http://purl.obolibrary.org/obo/HP_0004808 HP:0004802 biolink:PhenotypicFeature Episodic hemolytic anemia A form of hemolytic anemia that occurs in repeated episodes. UMLS:C1859495 hp.json Episodic hemolytic anaemia|Episodic hemolysis http://purl.obolibrary.org/obo/HP_0004802 RO:0002479 biolink:NamedThing has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. hp.json http://purl.obolibrary.org/obo/RO_0002479 ro-eco HP:0004800 biolink:PhenotypicFeature Duodenal diverticula SNOMEDCT_US:197083003|UMLS:C0341266 hp.json http://purl.obolibrary.org/obo/HP_0004800 RO:0002473 biolink:NamedThing composed primarily of x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y. RO:0002473 hp.json http://purl.obolibrary.org/obo/RO_0002473 ro-eco GO:0030431 biolink:BiologicalProcess sleep Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain. Wikipedia:Sleep hp.json diapause|dormancy|lethargus http://purl.obolibrary.org/obo/GO_0030431 goslim_pir GO:0030432 biolink:BiologicalProcess peristalsis A wavelike sequence of involuntary muscular contraction and relaxation that passes along a tubelike structure, such as the intestine, impelling the contents onwards. Wikipedia:Peristalsis hp.json http://purl.obolibrary.org/obo/GO_0030432 GO:0030424 biolink:CellularComponent axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. Wikipedia:Axon|NIF_Subcellular:sao1770195789 hp.json http://purl.obolibrary.org/obo/GO_0030424 GO:0030425 biolink:CellularComponent dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. NIF_Subcellular:sao1211023249|Wikipedia:Dendrite hp.json http://purl.obolibrary.org/obo/GO_0030425 GO:0005488 biolink:MolecularActivity binding The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. Wikipedia:Binding_(molecular) hp.json ligand http://purl.obolibrary.org/obo/GO_0005488 gocheck_do_not_annotate|goslim_pir|goslim_plant RO:0002464 biolink:NamedThing helper property (not for use in curation) hp.json http://purl.obolibrary.org/obo/RO_0002464 GO:0030421 biolink:BiologicalProcess defecation The expulsion of feces from the rectum. Wikipedia:Defecation hp.json http://purl.obolibrary.org/obo/GO_0030421 HP:0100644 biolink:PhenotypicFeature Melanonychia Brown or black discoloration of the nails. UMLS:C1142305|SNOMEDCT_US:402633003|MEDDRA:10058330 hp.json http://purl.obolibrary.org/obo/HP_0100644 HP:0100645 biolink:PhenotypicFeature Cystocele Anterior vaginal wall prolapse with bulging of the bladder into the vagina. ICD-9:618.00|SNOMEDCT_US:252005008|UMLS:C1394494 hp.json Bladder hernia|Bladder prolapse|Dropped bladder|Prolapsed bladder http://purl.obolibrary.org/obo/HP_0100645 HP:0100642 biolink:PhenotypicFeature Neoplasm of the adrenal medulla The presence of a neoplasm of the adrenal medulla. NCIT:C3262|UMLS:C0596046|SNOMEDCT_US:127023007 hp.json Medullar adrenal neoplasia http://purl.obolibrary.org/obo/HP_0100642 HP:0100643 biolink:PhenotypicFeature Abnormality of nail color An anomaly of the color of the nail. UMLS:C4020960 hp.json Nail dyschromia|Abnormality of nail color|Abnormality of nail colour http://purl.obolibrary.org/obo/HP_0100643 HP:0100640 biolink:PhenotypicFeature Laryngeal cyst Presence of a cyst (sac-like structure) located in the larynx. UMLS:C0339880|SNOMEDCT_US:195867000 hp.json http://purl.obolibrary.org/obo/HP_0100640 HP:0100641 biolink:PhenotypicFeature Neoplasm of the adrenal cortex The presence of a neoplasm of the adrenal cortex. SNOMEDCT_US:127022002|SNOMEDCT_US:18365006|MSH:D000306|NCIT:C3262|UMLS:C0001618 hp.json Cortical adrenal neoplasia http://purl.obolibrary.org/obo/HP_0100641 CHEBI:33913 biolink:ChemicalSubstance corrinoid A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions. KEGG:C06021 hp.json Corrinoid protein|Corrinoid protein Co+|Korrinoid|corrinoid|corrinoide|corrinoids|corrinoides|Corrinoid http://purl.obolibrary.org/obo/CHEBI_33913 3_STAR CHEBI:33916 biolink:ChemicalSubstance aldopentose A pentose with a (potential) aldehyde group at one end. PMID:10723607 hp.json aldopentose|aldopentoses http://purl.obolibrary.org/obo/CHEBI_33916 3_STAR CHEBI:33917 biolink:ChemicalSubstance aldohexose A hexose with a (potential) aldehyde group at one end. hp.json aldohexose|aldohexoses http://purl.obolibrary.org/obo/CHEBI_33917 3_STAR RO:0002450 biolink:NamedThing directly positively regulates activity of The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B. hp.json molecularly increases activity of http://purl.obolibrary.org/obo/RO_0002450 RO:0002448 biolink:NamedThing directly regulates activity of The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B. hp.json molecularly controls http://purl.obolibrary.org/obo/RO_0002448 RO:0002449 biolink:NamedThing directly negatively regulates activity of The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B. hp.json molecularly decreases activity of http://purl.obolibrary.org/obo/RO_0002449 GO:0042401 biolink:BiologicalProcess cellular biogenic amine biosynthetic process The chemical reactions and pathways occurring at the level of individual cells resulting in the formation of any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. hp.json biogenic amine synthesis|biogenic amine formation|biogenic amine biosynthesis|biogenic amine anabolism http://purl.obolibrary.org/obo/GO_0042401 RO:0002447 biolink:NamedThing phosphorylates hp.json http://purl.obolibrary.org/obo/RO_0002447 GO:0042403 biolink:NamedThing thyroid hormone metabolic process hp.json http://purl.obolibrary.org/obo/GO_0042403 HP:0100648 biolink:PhenotypicFeature Neoplasm of the tongue A tumor (abnormal growth of tissue) of the tongue. MSH:D014062|NCIT:C3262|UMLS:C0040411|SNOMEDCT_US:126778001 hp.json http://purl.obolibrary.org/obo/HP_0100648 HP:0100649 biolink:PhenotypicFeature Neoplasm of the oral cavity A tumor (abnormal growth of tissue) of the oral cavity. SNOMEDCT_US:235075007|UMLS:C0026640|UMLS:C4280289|NCIT:C3262|SNOMEDCT_US:1071000119107|MSH:D009062|SNOMEDCT_US:126797001|UMLS:C0149744 hp.json Neoplasm of the mouth|Tumour of oral cavity|Mouth neoplasm|Lesion of oral cavity|Tumor of oral cavity|Mouth tumor http://purl.obolibrary.org/obo/HP_0100649 HP:0100646 biolink:PhenotypicFeature Thyroiditis Inflammation of the thyroid gland. MSH:D013966|UMLS:C0040147|SNOMEDCT_US:82119001 hp.json Thyroid gland inflammation http://purl.obolibrary.org/obo/HP_0100646 HP:0100647 biolink:PhenotypicFeature Graves disease An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. UMLS:C0018213|SNOMEDCT_US:353295004|SNOMEDCT_US:55807009|MSH:D006111 hp.json Morbus Basedow http://purl.obolibrary.org/obo/HP_0100647 HP:0100656 biolink:PhenotypicFeature Thoracoabdominal wall defect Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development. UMLS:C4022002 hp.json Thoracoabdominal schisis http://purl.obolibrary.org/obo/HP_0100656 HP:0100653 biolink:PhenotypicFeature Optic neuritis Inflammation of the optic nerve. MSH:D009902|SNOMEDCT_US:66760008|UMLS:C0029134 hp.json http://purl.obolibrary.org/obo/HP_0100653 UBERON:0018376 biolink:AnatomicalEntity molar tooth 1 The molar tooth of the upper or lower jaw that is phylogenetically number 1. FMA:321614 hp.json first molar tooth|m1|molar 1|molar 1 tooth http://purl.obolibrary.org/obo/UBERON_0018376 HP:0100654 biolink:PhenotypicFeature Retrobulbar optic neuritis Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. MSH:D009902|UMLS:C0085582|SNOMEDCT_US:230507009 hp.json Retrobulbar neuritis http://purl.obolibrary.org/obo/HP_0100654 HP:0100651 biolink:PhenotypicFeature Type I diabetes mellitus A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. UMLS:C0011854|SNOMEDCT_US:46635009|MSH:D003922 hp.json Type 1 diabetes|Juvenile diabetes mellitus|Type I diabetes|Insulin-dependent diabetes mellitus|Diabetes mellitus Type I http://purl.obolibrary.org/obo/HP_0100651 HP:0100650 biolink:PhenotypicFeature Vaginal neoplasm A tumor (abnormal growth of tissue) of the vagina. UMLS:C0750081|UMLS:C0042258|SNOMEDCT_US:126921000|NCIT:C3262|MSH:D014625 hp.json Vaginal neoplasia|Vaginal tumor|Vaginal tumour http://purl.obolibrary.org/obo/HP_0100650 GO:0042417 biolink:BiologicalProcess dopamine metabolic process The chemical reactions and pathways involving dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. hp.json dopamine metabolism http://purl.obolibrary.org/obo/GO_0042417 GO:0042416 biolink:BiologicalProcess dopamine biosynthetic process The chemical reactions and pathways resulting in the formation of dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. hp.json dopamine anabolism|dopamine synthesis|dopamine formation|dopamine biosynthesis http://purl.obolibrary.org/obo/GO_0042416 RO:0002433 biolink:NamedThing contributes to morphology of p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. RO:0002433 hp.json http://purl.obolibrary.org/obo/RO_0002433 RO:0002434 biolink:NamedThing interacts with A relationship that holds between two entities in which the processes executed by the two entities are causally connected. hp.json in pairwise interaction with http://purl.obolibrary.org/obo/RO_0002434 ro-eco GO:0042415 biolink:BiologicalProcess norepinephrine metabolic process The chemical reactions and pathways involving norepinephrine, a hormone secreted by the adrenal medulla, and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts in the central nervous system. It is also the demethylated biosynthetic precursor of epinephrine. hp.json noradrenaline metabolism|noradrenaline metabolic process|levarterenol metabolism|norepinephrine metabolism|levarterenol metabolic process http://purl.obolibrary.org/obo/GO_0042415 RO:0002436 biolink:NamedThing molecularly interacts with An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other. hp.json http://purl.obolibrary.org/obo/RO_0002436 HP:0100659 biolink:PhenotypicFeature Abnormal cerebral vascular morphology An anomaly of the cerebral blood vessels. UMLS:C4022001 hp.json Abnormality of the cerebral vasculature|Abnormality of the cerebral blood vessels http://purl.obolibrary.org/obo/HP_0100659 HP:0100657 biolink:PhenotypicFeature Thoracoabdominal eventration Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls. SNOMEDCT_US:44518003|UMLS:C0266682 hp.json Celosomia|Kelosomia http://purl.obolibrary.org/obo/HP_0100657 HP:0100658 biolink:PhenotypicFeature Cellulitis A bacterial infection and inflammation of the skin und subcutaneous tissues. UMLS:C0007642|SNOMEDCT_US:385627004|MSH:D017192|SNOMEDCT_US:128936008|MSH:D002481|SNOMEDCT_US:128045006|UMLS:C0162627 hp.json Skin infection|Skin infections|Bacterial infection of skin http://purl.obolibrary.org/obo/HP_0100658 hposlim_core HP:0100665 biolink:PhenotypicFeature Angioedema Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. SNOMEDCT_US:41291007|UMLS:C0002994|SNOMEDCT_US:400075008|MSH:D000799 hp.json Quincke edema|Angiooedema|Angioneurotic oedema|Quincke oedema http://purl.obolibrary.org/obo/HP_0100665 HP:0100662 biolink:PhenotypicFeature Chondritis Inflammation of cartilage. UMLS:C0008439|SNOMEDCT_US:46176001 hp.json Cartilage inflammation http://purl.obolibrary.org/obo/HP_0100662 HP:0100663 biolink:PhenotypicFeature Synotia A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. SNOMEDCT_US:77471004|UMLS:C0266677 hp.json http://purl.obolibrary.org/obo/HP_0100663 HP:0100660 biolink:PhenotypicFeature Dyskinesia A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. UMLS:C0013384|MSH:D020820|SNOMEDCT_US:9748009 hp.json Disorder of involuntary muscle movements|Dyskinesis|Dyskinesias http://purl.obolibrary.org/obo/HP_0100660 HP:0100661 biolink:PhenotypicFeature Trigeminal neuralgia A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. MSH:D014277|SNOMEDCT_US:31681005|UMLS:C0040997 hp.json Tic douloureux http://purl.obolibrary.org/obo/HP_0100661 RO:0002430 biolink:NamedThing involved in negative regulation of c involved in regulation of p if c is involved in some p' and p' negatively regulates some p hp.json http://purl.obolibrary.org/obo/RO_0002430 RO:0002431 biolink:NamedThing involved in or involved in regulation of c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p hp.json http://purl.obolibrary.org/obo/RO_0002431 RO:0002432 biolink:NamedThing is active in c executes activity in d if and only if c enables p and p occurs_in d. Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure. hp.json enables activity in http://purl.obolibrary.org/obo/RO_0002432 GO:0042421 biolink:BiologicalProcess norepinephrine biosynthetic process The chemical reactions and pathways resulting in the formation of norepinephrine, a hormone secreted by the adrenal medulla, and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts in the central nervous system. It is also the demethylated biosynthetic precursor of epinephrine. hp.json levarterenol biosynthesis|levarterenol biosynthetic process|norepinephrine biosynthesis|norepinephrine anabolism|noradrenaline biosynthesis|noradrenaline biosynthetic process|norepinephrine synthesis|norepinephrine formation http://purl.obolibrary.org/obo/GO_0042421 GO:0042428 biolink:BiologicalProcess serotonin metabolic process The chemical reactions and pathways involving serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties. hp.json serotonin metabolism http://purl.obolibrary.org/obo/GO_0042428 RO:0002427 biolink:NamedThing causally downstream of or within inverse of causally upstream of or within RO:0002427 hp.json http://purl.obolibrary.org/obo/RO_0002427 http://purl.obolibrary.org/obo/RO_0002259 GO:0042427 biolink:BiologicalProcess serotonin biosynthetic process The chemical reactions and pathways resulting in the formation of serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties. Wikipedia:Serotonin hp.json serotonin formation|serotonin biosynthesis|serotonin anabolism|serotonin synthesis http://purl.obolibrary.org/obo/GO_0042427 HP:0002199 biolink:PhenotypicFeature Hypocalcemic seizures UMLS:C1855841 hp.json Seizures due to hypocalcemia|Low calcium seizures http://purl.obolibrary.org/obo/HP_0002199 RO:0002428 biolink:NamedThing involved in regulation of c involved in regulation of p if c is involved in some p' and p' regulates some p hp.json http://purl.obolibrary.org/obo/RO_0002428 RO:0002429 biolink:NamedThing involved in positive regulation of c involved in regulation of p if c is involved in some p' and p' positively regulates some p hp.json http://purl.obolibrary.org/obo/RO_0002429 GO:0042423 biolink:BiologicalProcess catecholamine biosynthetic process The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. Wikipedia:Catecholamines hp.json catecholamine synthesis|catecholamine formation|catecholamine anabolism|catecholamine biosynthesis http://purl.obolibrary.org/obo/GO_0042423 HP:0002193 biolink:PhenotypicFeature Pseudobulbar behavioral symptoms Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. UMLS:C4025720 hp.json Pseudobulbar behavioural symptoms http://purl.obolibrary.org/obo/HP_0002193 HP:0002194 biolink:PhenotypicFeature Delayed gross motor development A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. UMLS:C1837658|SNOMEDCT_US:430099007 hp.json Gross motor delay|Developmental delay, gross motor|Delayed gross motor skills|Delayed motor skills|Limited gross motor development http://purl.obolibrary.org/obo/HP_0002194 HP:0002191 biolink:PhenotypicFeature Progressive spasticity Spasticity that increases in degree with time. UMLS:C1859520 hp.json Spasticity, progressive http://purl.obolibrary.org/obo/HP_0002191 HP:0002197 biolink:PhenotypicFeature Generalized-onset seizure A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. UMLS:C0234533|SNOMEDCT_US:246545002|UMLS:C1833488|MSH:D012640 hp.json Generalised seizures|Generalised-onset seizure|Generalised onset seizure|Generalized seizures|Primary generalised seizure|Generalized-onset seizures|Generalized onset seizure|Primary generalized seizure http://purl.obolibrary.org/obo/HP_0002197 HP:0002198 biolink:PhenotypicFeature Dilated fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. UMLS:C1847117 hp.json Enlarged fourth ventricle http://purl.obolibrary.org/obo/HP_0002198 HP:0100668 biolink:PhenotypicFeature Intestinal duplication A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine. SNOMEDCT_US:3845008|UMLS:C0266166|UMLS:C4020702 hp.json Gut duplication|Bowel duplication http://purl.obolibrary.org/obo/HP_0100668 HP:0002195 biolink:PhenotypicFeature Dysgenesis of the cerebellar vermis Defective development of the vermis of cerebellum. UMLS:C4025719 hp.json http://purl.obolibrary.org/obo/HP_0002195 HP:0100669 biolink:PhenotypicFeature Abnormal pigmentation of the oral mucosa An abnormality of the pigmentation of the mucosa of the mouth. UMLS:C4020959 hp.json Abnormal pigmentation of oral mucous membrane|Abnormal pigmentation of the oral mucosa/gingivae|Abnormal color of the oral mucosa|Abnormal pigmentation of oral cavity|Abnormal colour of the oral mucosa http://purl.obolibrary.org/obo/HP_0100669 HP:0002196 biolink:PhenotypicFeature Myelopathy SNOMEDCT_US:48522003|UMLS:C0037928|MSH:D013118 hp.json http://purl.obolibrary.org/obo/HP_0002196 HP:0100677 biolink:PhenotypicFeature Vulval varicose vein Varicosity of veins in the vulval region. UMLS:C0155796|SNOMEDCT_US:48868008 hp.json http://purl.obolibrary.org/obo/HP_0100677 HP:0100678 biolink:PhenotypicFeature Premature skin wrinkling The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. MEDDRA:10040954|MSH:D015595|UMLS:C0037301|SNOMEDCT_US:247434009 hp.json Wrinkled skin|Premature skin wrinkling http://purl.obolibrary.org/obo/HP_0100678 hposlim_core HP:0100675 biolink:PhenotypicFeature Vaginal pyocele UMLS:C4022000 hp.json http://purl.obolibrary.org/obo/HP_0100675 CHEBI:33909 biolink:ChemicalSubstance metallotetrapyrrole hp.json metal-tetrapyrrole complex|metal-tetrapyrrole|metallotetrapyrroles http://purl.obolibrary.org/obo/CHEBI_33909 3_STAR HP:0100676 biolink:PhenotypicFeature Vaginal lymphocele UMLS:C4021999 hp.json http://purl.obolibrary.org/obo/HP_0100676 HP:0100673 biolink:PhenotypicFeature Vaginal hydrocele A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable. UMLS:C1720771|SNOMEDCT_US:386152007|SNOMEDCT_US:26614003|MSH:D006848|SNOMEDCT_US:55434001 hp.json http://purl.obolibrary.org/obo/HP_0100673 HP:0100674 biolink:PhenotypicFeature Vaginal hematocele UMLS:C1456401 hp.json http://purl.obolibrary.org/obo/HP_0100674 HP:0100671 biolink:PhenotypicFeature Abnormal trabecular bone morphology Abnormal structure or form of trabecular bone. UMLS:C4020957 hp.json Abnormal shape of spongy bone|Abnormality of bone trabeculation http://purl.obolibrary.org/obo/HP_0100671 HP:0100672 biolink:PhenotypicFeature Vaginal hernia The presence of a hernia of the vagina. SNOMEDCT_US:397786004|UMLS:C1442998 hp.json http://purl.obolibrary.org/obo/HP_0100672 HP:0100670 biolink:PhenotypicFeature Coarse metaphyseal trabecularization Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. UMLS:C4020958 hp.json Rough bone trabeculation|Rough trabeculation of bone|Coarse trabeculation at metaphyses http://purl.obolibrary.org/obo/HP_0100670 GO:0042430 biolink:BiologicalProcess indole-containing compound metabolic process The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton. hp.json indole and derivative metabolism|indole derivative metabolism|ketole metabolic process|indole-containing compound metabolism|ketole metabolism|indole and derivative metabolic process|indole derivative metabolic process http://purl.obolibrary.org/obo/GO_0042430 CHEBI:33906 biolink:ChemicalSubstance cobalt corrinoid hp.json cobalt corrinoids|cobalt-corrinoids http://purl.obolibrary.org/obo/CHEBI_33906 3_STAR RO:0002418 biolink:NamedThing causally upstream of or within p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q. RO:0002418 hp.json affects http://purl.obolibrary.org/obo/RO_0002418 RO:0002411 biolink:NamedThing causally upstream of p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain RO:0002411 hp.json http://purl.obolibrary.org/obo/RO_0002411 http://purl.obolibrary.org/obo/valid_for_go_annotation_extension|http://purl.obolibrary.org/obo/valid_for_gocam GO:0042435 biolink:BiologicalProcess indole-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of compounds that contain an indole (2,3-benzopyrrole) skeleton. hp.json indole-containing compound biosynthesis|indole-containing compound anabolism|indole derivative biosynthesis|indole derivative biosynthetic process|indole-containing compound synthesis|indole-containing compound formation http://purl.obolibrary.org/obo/GO_0042435 RO:0002412 biolink:NamedThing immediately causally upstream of p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q. RO:0002412 hp.json http://purl.obolibrary.org/obo/RO_0002412 HP:0100679 biolink:PhenotypicFeature Lack of skin elasticity UMLS:C0558242|SNOMEDCT_US:297957009|UMLS:C4021998 hp.json Tight skin http://purl.obolibrary.org/obo/HP_0100679 HP:0100689 biolink:PhenotypicFeature Decreased corneal thickness A decreased anteroposterior thickness of the cornea. SNOMEDCT_US:423459005|UMLS:C1096274 hp.json Thin cornea http://purl.obolibrary.org/obo/HP_0100689 HP:0100686 biolink:PhenotypicFeature Enthesitis UMLS:C1282952|SNOMEDCT_US:359643005 hp.json Inflammation of sharpey fibres|Inflammation of sharpey fibers http://purl.obolibrary.org/obo/HP_0100686 HP:0100687 biolink:PhenotypicFeature Polyotia The presence of an extra auricle on one or both sides of the head. UMLS:C0266611|SNOMEDCT_US:35547002 hp.json http://purl.obolibrary.org/obo/HP_0100687 HP:0100684 biolink:PhenotypicFeature Salivary gland neoplasm A tumor (abnormal growth of tissue) of a salivary gland. NCIT:C3262|SNOMEDCT_US:255072001|SNOMEDCT_US:235132004|UMLS:C0036095|MSH:D012468|UMLS:C0220636 hp.json Tumour of salivary gland|Salivary gland neoplasia|Cancer of salivary gland|Tumor of salivary gland http://purl.obolibrary.org/obo/HP_0100684 HP:0100685 biolink:PhenotypicFeature Abnormal Sharpey fiber morphology An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. UMLS:C4020701|UMLS:C4021997 hp.json Abnormality of Sharpey fibers|Enthesis abnormality|Abnormal Sharpey fibre morphology|Abnormality of Sharpey fibres http://purl.obolibrary.org/obo/HP_0100685 HP:0100682 biolink:PhenotypicFeature Tracheal atresia A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking. SNOMEDCT_US:53189005|UMLS:C0265766 hp.json http://purl.obolibrary.org/obo/HP_0100682 HP:0100681 biolink:PhenotypicFeature Esophageal duplication A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication. UMLS:C0266135|SNOMEDCT_US:66865009 hp.json http://purl.obolibrary.org/obo/HP_0100681 RO:0002410 biolink:NamedThing causally related to This relation groups causal relations between material entities and causal relations between processes hp.json http://purl.obolibrary.org/obo/RO_0002410 GO:0042440 biolink:BiologicalProcess pigment metabolic process The chemical reactions and pathways involving pigment, any general or particular coloring matter in living organisms, e.g. melanin. hp.json pigment metabolism http://purl.obolibrary.org/obo/GO_0042440 goslim_pir|goslim_drosophila RO:0002404 biolink:NamedThing causally downstream of inverse of upstream of RO:0002404 hp.json http://purl.obolibrary.org/obo/RO_0002404 RO:0002405 biolink:NamedThing immediately causally downstream of RO:0002405 hp.json http://purl.obolibrary.org/obo/RO_0002405 GO:0042446 biolink:NamedThing hormone biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0042446 GO:0042445 biolink:NamedThing hormone metabolic process hp.json http://purl.obolibrary.org/obo/GO_0042445 HP:0100699 biolink:PhenotypicFeature Scarring A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. SNOMEDCT_US:48677004|UMLS:C0008767|MSH:D002921 hp.json Scarring|Scar tissue http://purl.obolibrary.org/obo/HP_0100699 HP:0100697 biolink:PhenotypicFeature Neurofibrosarcoma A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma. NCIT:C3798|MSH:D009442|UMLS:C0751690|MSH:D018319|SNOMEDCT_US:404037002|SNOMEDCT_US:77418004|UMLS:C0206729|SNOMEDCT_US:19897006 hp.json Malignant peripheral nerve sheath tumor|Neurosarcoma|Malignant peripheral nerve sheath tumour|Malignant schwannoma http://purl.obolibrary.org/obo/HP_0100697 HP:0100698 biolink:PhenotypicFeature Subcutaneous neurofibromas The presence of Neurofibromas in the subcutis. SNOMEDCT_US:425327002|UMLS:C1827970 hp.json http://purl.obolibrary.org/obo/HP_0100698 HP:0100695 biolink:PhenotypicFeature Lipedema Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise . UMLS:C0398370|MSH:D065134|SNOMEDCT_US:234102003 hp.json http://purl.obolibrary.org/obo/HP_0100695 HP:0100693 biolink:PhenotypicFeature Iridodonesis Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. SNOMEDCT_US:118166004|UMLS:C0423320 hp.json http://purl.obolibrary.org/obo/HP_0100693 HP:0100694 biolink:PhenotypicFeature Tibial torsion Twisted position of the tibia (shin bone) associated with pathological rotation of the leg. UMLS:C0426900|SNOMEDCT_US:249785006 hp.json http://purl.obolibrary.org/obo/HP_0100694 HP:0100691 biolink:PhenotypicFeature Abnormality of the curvature of the cornea UMLS:C4021995 hp.json http://purl.obolibrary.org/obo/HP_0100691 HP:0100692 biolink:PhenotypicFeature Increased corneal curvature An increase in the degree of curvature of the cornea compared to normal. UMLS:C4020956 hp.json Steep corneal curvature http://purl.obolibrary.org/obo/HP_0100692 HP:0100690 biolink:PhenotypicFeature Mosaic central corneal dystrophy UMLS:C4021996 hp.json http://purl.obolibrary.org/obo/HP_0100690 GO:0042465 biolink:BiologicalProcess kinesis The movement of a cell or organism in response to a stimulus in which the rate of movement depends on the intensity (rather than the direction) of the stimulus. Wikipedia:Kinesis hp.json http://purl.obolibrary.org/obo/GO_0042465 GO:0042462 biolink:BiologicalProcess eye photoreceptor cell development Development of a photoreceptor, a sensory cell in the eye that reacts to the presence of light. They usually contain a pigment that undergoes a chemical change when light is absorbed, thus stimulating a nerve. hp.json http://purl.obolibrary.org/obo/GO_0042462 GO:0042461 biolink:BiologicalProcess photoreceptor cell development Development of a photoreceptor, a cell that responds to incident electromagnetic radiation, particularly visible light. hp.json photoreceptor morphogenesis http://purl.obolibrary.org/obo/GO_0042461 GO:0042475 biolink:BiologicalProcess odontogenesis of dentin-containing tooth The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. hp.json odontogeny|odontogenesis of dentine-containing teeth|odontogenesis of dentine-containing tooth|tooth development|odontosis http://purl.obolibrary.org/obo/GO_0042475 GO:0042476 biolink:BiologicalProcess odontogenesis The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. Wikipedia:Odontogenesis hp.json tooth development|odontosis|odontogenesis of calcareous or chitinous tooth|tooth morphogenesis|odontogeny http://purl.obolibrary.org/obo/GO_0042476 GO:0042470 biolink:CellularComponent melanosome A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. Wikipedia:Melanosome hp.json http://purl.obolibrary.org/obo/GO_0042470 GO:0042479 biolink:BiologicalProcess positive regulation of eye photoreceptor cell development Any process that activates or increases the frequency, rate or extent of eye photoreceptor development. hp.json positive regulation of eye photoreceptor development|upregulation of eye photoreceptor cell development|up regulation of eye photoreceptor cell development|stimulation of eye photoreceptor cell development|up-regulation of eye photoreceptor cell development|activation of eye photoreceptor cell development http://purl.obolibrary.org/obo/GO_0042479 GO:0042478 biolink:BiologicalProcess regulation of eye photoreceptor cell development Any process that modulates the frequency, rate or extent of eye photoreceptor development. hp.json regulation of eye photoreceptor development http://purl.obolibrary.org/obo/GO_0042478 CHEBI:18240 biolink:ChemicalSubstance 4-hydroxy-L-proline The L-stereoisomer of 4-hydroxyproline. KNApSAcK:C00001370|Wikipedia:4-hydroxy-L-proline|CAS:51-35-4|KEGG:C01015|HMDB:HMDB0006055|Reaxys:81441 hp.json 4-Hydroxy-L-proline|(2S)-4-hydroxypyrrolidine-2-carboxylic acid|hydroxy-L-proline|cis-4-Hydroxy-L-Proline|4-hydroxy-L-proline|L-Hydroxyproline http://purl.obolibrary.org/obo/CHEBI_18240 3_STAR NBO:0000851 biolink:NamedThing increased amount of liquid in a single drinking act hp.json http://purl.obolibrary.org/obo/NBO_0000851 HP:0002135 biolink:PhenotypicFeature Basal ganglia calcification The presence of calcium deposition affecting one or more structures of the basal ganglia. UMLS:C1389280 hp.json Calcification of the basal ganglia|Basal ganglia calcifications|Basal ganglion calcification http://purl.obolibrary.org/obo/HP_0002135 HP:0004798 biolink:PhenotypicFeature Recurrent infection of the gastrointestinal tract Recurrent infection of the gastrointestinal tract. SNOMEDCT_US:715852004|UMLS:C1854495|UMLS:C4082764 hp.json Gastrointestinal infections|Recurrent infection of the GI tract|Gastrointestinal infections, recurrent|Recurrent gastrointestinal infections|Recurrent infection of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0004798 HP:0002136 biolink:PhenotypicFeature Broad-based gait An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. UMLS:C0856863 hp.json Broad based gait|Wide based gait|Wide based walk|Wide-based gait http://purl.obolibrary.org/obo/HP_0002136 HP:0004797 biolink:PhenotypicFeature Multiple small bowel atresias The presence of multiple areas of atresia affecting the small intestine. UMLS:C1857476 hp.json http://purl.obolibrary.org/obo/HP_0004797 HP:0004796 biolink:PhenotypicFeature Gastrointestinal obstruction SNOMEDCT_US:126765001|UMLS:C0236124 hp.json Obstruction in digestive tract|Gastrointestinal obstruction|GI obstruction http://purl.obolibrary.org/obo/HP_0004796 HP:0002133 biolink:PhenotypicFeature Status epilepticus Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. UMLS:C0038220|MSH:D013226|SNOMEDCT_US:230456007 hp.json Repeated seizures without recovery between them|Repeated seizure without recovery|Prolonged seizure http://purl.obolibrary.org/obo/HP_0002133 UBERON:0006440 biolink:AnatomicalEntity os clitoris The ossified region of endochondral and membranous bone located in the clitoris of most mammals except humans; it is homologous to the penile bone (aka as baculum, penis bone or os penis) in male mammals. EMAPA:30823|MA:0000387 hp.json clitoral bone|baubellum|os clitoridis|clitoris bone http://purl.obolibrary.org/obo/UBERON_0006440 pheno_slim HP:0002134 biolink:PhenotypicFeature Abnormal basal ganglia morphology Abnormality of the basal ganglia. UMLS:C0004782|SNOMEDCT_US:70835005|MSH:D001480 hp.json Anomaly of the basal ganglia|Abnormality of the basal ganglia|Basal ganglia disease http://purl.obolibrary.org/obo/HP_0002134 HP:0004795 biolink:PhenotypicFeature Hamartomatous stomach polyps Polyp-like protrusions which are histologically hamartomas located in the stomach. UMLS:C1862304 hp.json http://purl.obolibrary.org/obo/HP_0004795 HP:0002139 biolink:PhenotypicFeature Arrhinencephaly MSH:D016142|UMLS:C0078982 hp.json http://purl.obolibrary.org/obo/HP_0002139 HP:0002138 biolink:PhenotypicFeature Subarachnoid hemorrhage Hemorrhage occurring between the arachnoid mater and the pia mater. MSH:D013345|UMLS:C0038525|SNOMEDCT_US:21454007 hp.json Subarachnoid haemorrhage http://purl.obolibrary.org/obo/HP_0002138 HP:0004799 biolink:PhenotypicFeature Jejunoileal diverticula UMLS:C4025290 hp.json http://purl.obolibrary.org/obo/HP_0004799 HP:0004790 biolink:PhenotypicFeature Hypoplasia of the small intestine Underdevelopment of the small intestine. UMLS:C4025291 hp.json Underdeveloped small intestine http://purl.obolibrary.org/obo/HP_0004790 CHEBI:18237 biolink:ChemicalSubstance glutamic acid An alpha-amino acid that is glutaric acid bearing a single amino substituent at position 2. Wikipedia:Glutamic_acid|PMID:17190852|KNApSAcK:C00019577|CAS:617-65-2|CAS:617-65-2|CAS:617-65-2|PMID:24984001|KEGG:D04341|Gmelin:101971|Reaxys:1723799|Beilstein:1723799|KNApSAcK:C00001358|PMID:15739367|PMID:24616376|KEGG:C00302 hp.json Glutamate|Glutaminsaeure|Glutaminic acid|E|2-aminopentanedioic acid|glutamic acid|2-Aminoglutaric acid|DL-Glutaminic acid|DL-Glutamic acid|Glu|Glutamic acid http://purl.obolibrary.org/obo/CHEBI_18237 3_STAR HP:0004794 biolink:PhenotypicFeature Malrotation of small bowel A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. UMLS:C1860244 hp.json Malrotation of the small intestine http://purl.obolibrary.org/obo/HP_0004794 HP:0002131 biolink:PhenotypicFeature Episodic ataxia Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. SNOMEDCT_US:421455009|MSH:C580065|UMLS:C1720189 hp.json Paroxysmal ataxia|Intermittent cerebellar ataxia http://purl.obolibrary.org/obo/HP_0002131 HP:0002132 biolink:PhenotypicFeature Porencephalic cyst A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. UMLS:C4082173|MSH:D065708 hp.json Cavity within brain http://purl.obolibrary.org/obo/HP_0002132 HP:0004792 biolink:PhenotypicFeature Rectoperineal fistula The presence of a fistula between the perineum and the rectum. UMLS:C0240880 hp.json http://purl.obolibrary.org/obo/HP_0004792 UBERON:0006444 biolink:AnatomicalEntity annulus fibrosus A ring of fibrous or fibrocartilaginous tissue (as of an intervertebral disk or surrounding an orifice of the heart). FMA:76704|MESH:D000070616|BTO:0003627|EMAPA:32670 hp.json anulus|anulus fibrosus|fibrous ring|fibrocartilaginous ring http://purl.obolibrary.org/obo/UBERON_0006444 grouping_class HP:0004791 biolink:PhenotypicFeature Esophageal ulceration Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. UMLS:C0151970|SNOMEDCT_US:30811009 hp.json Esophagus ulcer|Oesophagus ulcer|Oesophagus ulceration http://purl.obolibrary.org/obo/HP_0004791 UBERON:0018411 biolink:AnatomicalEntity ligament of hip joint A skeletal ligament that is part of a hip joint. FMA:42868 hp.json hip joint ligament http://purl.obolibrary.org/obo/UBERON_0018411 CHEBI:33888 biolink:ChemicalSubstance cobalt molecular entity hp.json cobalt molecular entities|cobalt compounds|cobalt molecular entity http://purl.obolibrary.org/obo/CHEBI_33888 3_STAR UBERON:0018415 biolink:AnatomicalEntity ethmoid foramen An bone foramen in the ethmoid bone. hp.json ethmoid foramina|ethmoidal foramen|ethmoidal foramina|foramina ethmoidalia http://purl.obolibrary.org/obo/UBERON_0018415 UBERON:0018413 biolink:AnatomicalEntity facial nerve canal A Z-shaped canal running through the temporal bone from the internal acoustic meatus to the stylomastoid foramen. It is located within the middle ear region, according to its shape it is divided into three main segments: the labyrinthine, the tympanic, and the mastoidal segment . FMA:54952 hp.json facial canal|fallopian canal|canalis nervi facialis http://purl.obolibrary.org/obo/UBERON_0018413 UBERON:0006431 biolink:AnatomicalEntity xiphoid process bone A bone tissue that is part of a xiphoid process. FMA:32577|GAID:248 hp.json xiphoid bone|bone tissue of xiphoid process http://purl.obolibrary.org/obo/UBERON_0006431 UBERON:0006430 biolink:AnatomicalEntity xiphoid cartilage A costal cartilage that is part of a xiphoid process. MA:0001884|AAO:0000940|FMA:32574|EMAPA:18725 hp.json xiphoid cartilage|ensiform cartilage|xiphoid process cartilage|cartilage of xiphoid process http://purl.obolibrary.org/obo/UBERON_0006430 pheno_slim|uberon_slim HP:0002144 biolink:PhenotypicFeature Tethered cord During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. MSH:D009436|UMLS:C0080218|SNOMEDCT_US:70534000 hp.json Occult spinal dysraphism http://purl.obolibrary.org/obo/HP_0002144 HP:0002145 biolink:PhenotypicFeature Frontotemporal dementia A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. MSH:D057180|UMLS:C0338451|SNOMEDCT_US:230270009 hp.json http://purl.obolibrary.org/obo/HP_0002145 HP:0002148 biolink:PhenotypicFeature Hypophosphatemia An abnormally decreased phosphate concentration in the blood. UMLS:C0085682|MSH:D017674|SNOMEDCT_US:4996001 hp.json Low blood phosphate level|Hypophosphataemia http://purl.obolibrary.org/obo/HP_0002148 HP:0002149 biolink:PhenotypicFeature Hyperuricemia An abnormally high level of uric acid in the blood. UMLS:C0740394|MSH:D033461|SNOMEDCT_US:35885006 hp.json High blood uric acid level|Hyperuricaemia http://purl.obolibrary.org/obo/HP_0002149 NCBITaxon:186623 biolink:OrganismalEntity Actinopteri GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_186623 HP:0002143 biolink:PhenotypicFeature Abnormality of the spinal cord An abnormality of the spinal cord (myelon). UMLS:C0037928|MSH:D013118|UMLS:C4025722|SNOMEDCT_US:48522003 hp.json Spinal cord disease|Spinal cord pathology|Abnormality of the spinal cord http://purl.obolibrary.org/obo/HP_0002143 UBERON:0006435 biolink:AnatomicalEntity os penis The unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species. MA:0000406|EMAPA:29769 hp.json baculum|penis bone|penile bone|penile bone|os baculum http://purl.obolibrary.org/obo/UBERON_0006435 pheno_slim HP:0002140 biolink:PhenotypicFeature Ischemic stroke Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. UMLS:C0948008|SNOMEDCT_US:422504002 hp.json Ischaemic stroke http://purl.obolibrary.org/obo/HP_0002140 HP:0002141 biolink:PhenotypicFeature Gait imbalance UMLS:C1836150 hp.json Abnormality of balance|Abnormality of equilibrium|Imbalanced walk http://purl.obolibrary.org/obo/HP_0002141 HP:0100700 biolink:PhenotypicFeature Abnormal arachnoid mater morphology An abnormality of the Arachnoid mater. UMLS:C4020955 hp.json Abnormality of the arachnoid mater|Abnormality of the arachnoidea http://purl.obolibrary.org/obo/HP_0100700 CHEBI:33856 biolink:ChemicalSubstance aromatic amino acid An amino acid whose structure includes an aromatic ring. KEGG:C01021|Wikipedia:Aromatic_amino_acid hp.json aromatic amino acids|Aromatic amino acid http://purl.obolibrary.org/obo/CHEBI_33856 3_STAR UBERON:0018408 biolink:AnatomicalEntity infra-orbital nerve A branch of the maxillary nerve that enters the infraorbital canal and innervates the lower eyelid, upper lip, the nasal vestibule, the upper incisors, canines, premolars, upper gums, lower eyelid and conjunctiva, and part of the nose. FMA:52978 hp.json infraorbital portion|infraorbital nerve|infra-orbital nerve http://purl.obolibrary.org/obo/UBERON_0018408 HP:0002119 biolink:PhenotypicFeature Ventriculomegaly An increase in size of the ventricular system of the brain. UMLS:C3278923 hp.json Enlarged ventricular system|Cerebral ventricular dilatation|Dilated cerebral ventricles|Ventricular dilatation|Dilated ventricles|Dilated cerebral ventricle|Enlarged cerebral ventricles|Large cerebral ventricles and cisternae|Enlarged ventricles http://purl.obolibrary.org/obo/HP_0002119 UBERON:0018405 biolink:AnatomicalEntity inferior alveolar nerve FMA:53243 hp.json inferior dental nerve http://purl.obolibrary.org/obo/UBERON_0018405 UBERON:0018406 biolink:AnatomicalEntity mental nerve Mental nerve is a general somatic afferent (sensory) nerve which provides sensation to the anterior aspects of the chin and lower lip as well as the buccal gingivae of the mandibular anterior teeth and the premolars. It is a branch of the posterior trunk of the inferior alveolar nerve, which is itself a branch of the mandibular division of the trigeminal nerve (CN V). The nerve emerges at the mental foramen in the mandibula, and divides beneath the Depressor anguli oris muscle into three branches: one descends to the skin of the chin. two ascend to the skin and mucous membrane of the lower lip. These branches communicate freely with the facial nerve. FMA:53250 hp.json http://purl.obolibrary.org/obo/UBERON_0018406 CHEBI:33859 biolink:ChemicalSubstance aromatic carboxylic acid Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring. hp.json aromatic carboxylic acids http://purl.obolibrary.org/obo/CHEBI_33859 3_STAR HP:0002113 biolink:PhenotypicFeature Pulmonary infiltrates UMLS:C0235896 hp.json Pulmonic infiltration|Lung infiltrates http://purl.obolibrary.org/obo/HP_0002113 HP:0002111 biolink:PhenotypicFeature obsolete Restrictive deficit on pulmonary function testing hp.json http://purl.obolibrary.org/obo/HP_0002111 HP:0004779 biolink:PhenotypicFeature Brittle scalp hair Fragile, easily breakable scalp hair. UMLS:C4025296 hp.json Brittle scalp hair http://purl.obolibrary.org/obo/HP_0004779 HP:0002118 biolink:PhenotypicFeature Abnormal cerebral ventricle morphology Any structural abnormality of the cerebral ventricles. UMLS:C4025724 hp.json Abnormality of the cerebral ventricles http://purl.obolibrary.org/obo/HP_0002118 CHEBI:33853 biolink:ChemicalSubstance phenols Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring. KEGG:C15584|MetaCyc:Phenols|Wikipedia:Phenols hp.json phenols|a phenol|arenols|Aryl alcohol http://purl.obolibrary.org/obo/CHEBI_33853 3_STAR HP:0100709 biolink:PhenotypicFeature Reduction of oligodendroglia UMLS:C4021852 hp.json http://purl.obolibrary.org/obo/HP_0100709 CHEBI:18258 biolink:ChemicalSubstance 3,3',5-triiodo-L-thyronine An iodothyronine compound having iodo substituents at the 3-, 3'- and 5-positions. Although some is produced in the thyroid, most of the 3,3',5-triiodo-L-thyronine in the body is generated by mono-deiodination of L-thyroxine in the peripheral tissues. Its metabolic activity is about 3 to 5 times that of L-thyroxine. The sodium salt is used in the treatment of hypothyroidism. KEGG:C02465|LINCS:LSM-3991|Wikipedia:Triiodothyronine|KEGG:D08128|Beilstein:2710227|Reaxys:2710227|PMID:19339791|DrugBank:DB00279|HMDB:HMDB0000265|PDBeChem:T3|PMID:15206581|PMID:11738632|CAS:6893-02-3|MetaCyc:CPD-10813|CAS:6893-02-3|Drug_Central:1585 hp.json Liothyronine|3,5,3'-Triiodothyronine|L-3,5,3'-Triiodothyronine|T3|L-T3|O-(4-hydroxy-3-iodophenyl)-3,5-diiodo-L-tyrosine|liothyroninum|4-(4-hydroxy-3-iodophenoxy)-3,5-diiodo-L-phenylalanine|liothyronine|3,5,3'-Triiodo-L-thyronine|Triiodothyronine|T3|3,5,3'TRIIODOTHYRONINE|3,3',5-triiodo-L-thyronine|Tresitope|Tertroxin|liothyronine|liotironina http://purl.obolibrary.org/obo/CHEBI_18258 3_STAR HP:0100707 biolink:PhenotypicFeature Abnormal astrocyte morphology An abnormality of astrocytes. UMLS:C4021991 hp.json Abnormality of the astrocytes http://purl.obolibrary.org/obo/HP_0100707 CHEBI:18259 biolink:ChemicalSubstance N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramide A glycotetraosylceramide having N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucose as the tetrasaccharide component. PMID:15495792|PMID:7690848|PMID:4026313|PMID:15661151|PMID:1528196|PMID:21376640|PMID:8161226|PMID:21252262|KEGG:C03272|PMID:2456994|CAS:11034-93-8|CAS:11034-93-8|KEGG:G00094|PMID:7691279|PMID:1724444|PMID:7287743|PMID:3220436|PMID:1601891|PMID:2448252 hp.json Gb4 Globotetraosyl ceramide|GalNAc-1->3-Gal-1->4-Gal-1->4-Glc-Cer|(Gal)2 (GalNAc)1 (Glc)1 (Cer)1|N-Acetyl-galactosaminyl-1,3-D-galactosyl-1,4-D-galactosyl-1,4-D-glucosylceramide|globoside Gb4Cer (d18:1(4E))|Gbose4Cer|beta-D-GalNAc-(1->3)-alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer|N-acetyl-D-galactosaminyl-(1->3)-D-galactosyl-(1->4)-D-galactosyl-(1->4)-D-glucosylceramides|N-[(2S,3R,4E)-1-{[2-acetamido-2-deoxy-beta-D-galactopyranosyl-(1->3)-alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl]oxy}-3-hydroxyoctadec-4-en-2-yl]alkanamide|Globoside GL-4|GbOse4Cer|CTH/Gb4|Globotetraosyl ceramide|N-Acetyl-D-galactosaminyl-1,3-D-galactosyl-1,4-D-galactosyl-1,4-D-glucosylceramide|Globoside I|VT2vp1 Receptor|Slt-iiv receptor|Gb4Cer|Gb4Cer|Gb4 Globoside|beta-D-GalpNAc-(1->3)-alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-(1<->1')-Cer|GalNAcbeta1-3-Galalpha1-4Galbeta1-4Glcbeta1-1Cer http://purl.obolibrary.org/obo/CHEBI_18259 3_STAR HP:0100708 biolink:PhenotypicFeature Abnormal microglia morphology An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells. UMLS:C4021990 hp.json Abnormality of the microglia http://purl.obolibrary.org/obo/HP_0100708 HP:0100705 biolink:PhenotypicFeature Abnormal glial cell morphology An abnormality of the glia cell. UMLS:C4021993 hp.json Abnormality of the glial cells http://purl.obolibrary.org/obo/HP_0100705 CHEBI:18257 biolink:ChemicalSubstance ornithine An alpha-amino acid that is pentanoic acid bearing two amino substituents at positions 2 and 5. PMID:17190852|CAS:616-07-9|KEGG:C01602|PMID:15449570|PMID:22264337|Reaxys:1722296|Beilstein:1722296|KNApSAcK:C00001384|Gmelin:847696 hp.json 2,5-diaminopentanoic acid|2,5-Diaminovaleric acid|ornithine|DL-Ornithine|Orn|Ornithine|2,5-Diaminopentanoic acid http://purl.obolibrary.org/obo/CHEBI_18257 3_STAR HP:0100706 biolink:PhenotypicFeature Abnormal oligodendroglia morphology One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers. UMLS:C4021992 hp.json Abnormality of the oligodendroglia http://purl.obolibrary.org/obo/HP_0100706 HP:0100703 biolink:PhenotypicFeature Tongue thrusting SNOMEDCT_US:110343009|UMLS:C1829460|SNOMEDCT_US:424583005 hp.json Tongue thrusting http://purl.obolibrary.org/obo/HP_0100703 HP:0100704 biolink:PhenotypicFeature Cerebral visual impairment A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. SNOMEDCT_US:68574006|UMLS:C4048268|UMLS:C0155320|MSH:D019575|SNOMEDCT_US:413924001 hp.json CVI|Cortical blindness|Cortical visual impairment|Cortical/cerebral visual impairment http://purl.obolibrary.org/obo/HP_0100704 HP:0002110 biolink:PhenotypicFeature Bronchiectasis Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. UMLS:C0006267|MSH:D001987|SNOMEDCT_US:12295008 hp.json Permanent enlargement of the airways of the lungs http://purl.obolibrary.org/obo/HP_0002110 HP:0004771 biolink:PhenotypicFeature Premature graying of body hair UMLS:C1849125 hp.json Premature graying of body hair|Premature greying of body hair http://purl.obolibrary.org/obo/HP_0004771 HP:0100701 biolink:PhenotypicFeature Abnormal pia mater An abnormality of the pia mater. UMLS:C4021994 hp.json Abnormality of the pia mater http://purl.obolibrary.org/obo/HP_0100701 HP:0100702 biolink:PhenotypicFeature Arachnoid cyst An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. MSH:D016080|SNOMEDCT_US:33595009|UMLS:C0078981 hp.json Fluid-filled sac located in membrane surrounding brain or spinal cord|Arachnoid cysts http://purl.obolibrary.org/obo/HP_0100702 HP:0100710 biolink:PhenotypicFeature Impulsivity Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. UMLS:C0021125|MSH:D007175 hp.json Impulsive|Impulsivity http://purl.obolibrary.org/obo/HP_0100710 HP:0100711 biolink:PhenotypicFeature Abnormal thoracic spine morphology An abnormality of the thoracic vertebral column. UMLS:C4021989 hp.json Abnormality of the thoracic spine http://purl.obolibrary.org/obo/HP_0100711 HP:0004787 biolink:PhenotypicFeature Fulminant hepatitis Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. UMLS:C0302809|SNOMEDCT_US:427044009 hp.json http://purl.obolibrary.org/obo/HP_0004787 HP:0004786 biolink:PhenotypicFeature Jejunal diverticula UMLS:C4025293 hp.json http://purl.obolibrary.org/obo/HP_0004786 HP:0004785 biolink:PhenotypicFeature Malrotation of colon An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. UMLS:C0266196|SNOMEDCT_US:6477005 hp.json http://purl.obolibrary.org/obo/HP_0004785 HP:0002123 biolink:PhenotypicFeature Generalized myoclonic seizure A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. UMLS:C4021759|MSH:D020191|UMLS:C0014550|SNOMEDCT_US:267581004|MSH:D004831|UMLS:C0751778|SNOMEDCT_US:37356005|SNOMEDCT_US:192992007 hp.json Generalised myoclonic seizures|Myoclonic epilepsy, progressive|Generalized epileptic myoclonus|Myoclonus seizures|Generalized myoclonic seizures|Generalised epileptic myoclonus|Generalised myoclonic seizure http://purl.obolibrary.org/obo/HP_0002123 HP:0004784 biolink:PhenotypicFeature Juvenile gastrointestinal polyposis The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps. UMLS:C4025294 hp.json Juvenile GI polyposis http://purl.obolibrary.org/obo/HP_0004784 CHEBI:33861 biolink:ChemicalSubstance transition element coordination entity hp.json transition metal coordination entities|transition element coordination entities|transition metal coordination compounds http://purl.obolibrary.org/obo/CHEBI_33861 3_STAR HP:0002126 biolink:PhenotypicFeature Polymicrogyria Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). UMLS:C0266464|SNOMEDCT_US:4945003|MSH:D065706 hp.json More grooves in brain http://purl.obolibrary.org/obo/HP_0002126 HP:0004789 biolink:PhenotypicFeature Lactose intolerance An inability to digest lactose. SNOMEDCT_US:267425008|UMLS:C0022951|MSH:D007787|SNOMEDCT_US:700094005 hp.json Lactose intolerance|Milk intolerance http://purl.obolibrary.org/obo/HP_0004789 HP:0004788 biolink:PhenotypicFeature Intestinal lymphedema Fluid retention and edema in the intestine caused by a compromised lymphatic system. UMLS:C4025292 hp.json http://purl.obolibrary.org/obo/HP_0004788 HP:0002127 biolink:PhenotypicFeature Abnormal upper motor neuron morphology Any structural anomaly that affects the upper motor neuron. UMLS:C4025723 hp.json Abnormal shape of upper motor neuron http://purl.obolibrary.org/obo/HP_0002127 HP:0100718 biolink:PhenotypicFeature Uterine rupture SNOMEDCT_US:34430009|MSH:D014597|UMLS:C0042143 hp.json http://purl.obolibrary.org/obo/HP_0100718 CHEBI:18248 biolink:ChemicalSubstance iron atom An iron group element atom that has atomic number 26. CAS:7439-89-6|KEGG:C00023|WebElements:Fe|CAS:7439-89-6|HMDB:HMDB0015531|Reaxys:4122945|CAS:7439-89-6|DrugBank:DB01592 hp.json hierro|iron|Eisen|ferrum|iron|26Fe|fer|Fe|Fe|Iron http://purl.obolibrary.org/obo/CHEBI_18248 3_STAR HP:0100719 biolink:PhenotypicFeature Lens coloboma A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. UMLS:C0344516|SNOMEDCT_US:204134008 hp.json http://purl.obolibrary.org/obo/HP_0100719 hposlim_core HP:0100716 biolink:PhenotypicFeature Self-injurious behavior Aggression towards oneself. SNOMEDCT_US:248062006|UMLS:C0085271|MSH:D016728 hp.json Autoagression|Self-injurious behaviours|Self injury|Self-injurious behaviour|Self-harm|Self-injurious behavior|Self-injurious behaviors http://purl.obolibrary.org/obo/HP_0100716 HP:0100717 biolink:PhenotypicFeature Abnormal cementum morphology Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root). UMLS:C4021987 hp.json Abnormality of the cementum http://purl.obolibrary.org/obo/HP_0100717 HP:0004783 biolink:PhenotypicFeature Duodenal polyposis Presence of multiple polyps in the duodenum. UMLS:C0578477|SNOMEDCT_US:301797007 hp.json Multiple duodenal polyps http://purl.obolibrary.org/obo/HP_0004783 CHEBI:18243 biolink:ChemicalSubstance dopamine Catechol in which the hydrogen at position 4 is substituted by a 2-aminoethyl group. DrugBank:DB00988|KNApSAcK:C00001408|PMID:11149432|KEGG:D07870|PMID:9422813|PMID:10629745|Reaxys:1072822|KEGG:C03758|Drug_Central:947|Wikipedia:Dopamine|HMDB:HMDB0000073|MetaCyc:DOPAMINE|LINCS:LSM-4630|CAS:51-61-6 hp.json Hydroxytyramin|Deoxyepinephrine|2-(3,4-Dihydroxyphenyl)ethylamine|4-(2-aminoethyl)catechol|dopaminum|4-(2-Aminoethyl)-1,2-benzenediol|dopamina|3-Hydroxytyramine|2-(3,4-dihydroxyphenyl)ethylamine|4-(2-Aminoethyl)benzene-1,2-diol|4-(2-aminoethyl)-1,2-benzenediol|dopamine|4-(2-aminoethyl)pyrocatechol|Dopamine|4-(2-aminoethyl)benzene-1,2-diol|3,4-Dihydroxyphenethylamine http://purl.obolibrary.org/obo/CHEBI_18243 3_STAR HP:0002120 biolink:PhenotypicFeature Cerebral cortical atrophy Atrophy of the cortex of the cerebrum. SNOMEDCT_US:278849000|UMLS:C0235946 hp.json Cortical atrophy|Cerebral cortex atrophy|Decrease in size of the outer layer of the brain due to loss of brain cells http://purl.obolibrary.org/obo/HP_0002120 HP:0002121 biolink:PhenotypicFeature Generalized non-motor (absence) seizure A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. SNOMEDCT_US:230413002|MSH:D004832|SNOMEDCT_US:432241000124101|SNOMEDCT_US:79631006|SNOMEDCT_US:50866000|UMLS:C0014553 hp.json Petit mal seizure|Brief seizures with staring spells|Absence seizures|Absence seizure|Petit mal|Generalised non-motor (absence) seizure|Petit mal seizures|Generalised non-motor seizure http://purl.obolibrary.org/obo/HP_0002121 HP:0004782 biolink:PhenotypicFeature obsolete Hypotrichosis of the scalp hp.json http://purl.obolibrary.org/obo/HP_0004782 HP:0100712 biolink:PhenotypicFeature Abnormal lumbar spine morphology Any structural abnormality of the lumbar vertebral column. UMLS:C4021988 hp.json Abnormality of the lumbar spine http://purl.obolibrary.org/obo/HP_0100712 HP:0004780 biolink:PhenotypicFeature Elbow hypertrichosis Excessive, increased hair growth located in the elbow region. UMLS:C4025295 hp.json Hypertrichosis cubiti|Pilosity of elbow|Hairy elbow|Hairy elbow syndrome http://purl.obolibrary.org/obo/HP_0004780 HP:0100721 biolink:PhenotypicFeature Mediastinal lymphadenopathy Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. UMLS:C0520743|SNOMEDCT_US:52324001 hp.json Swollen lymph nodes in center of chest|Swollen lymph nodes in centre of chest http://purl.obolibrary.org/obo/HP_0100721 HP:0100720 biolink:PhenotypicFeature Hypoplasia of the ear cartilage UMLS:C4021986 hp.json Underdeveloped ear cartilage http://purl.obolibrary.org/obo/HP_0100720 CHEBI:33833 biolink:ChemicalSubstance heteroarene A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). hp.json heteroarenes|hetarenes http://purl.obolibrary.org/obo/CHEBI_33833 3_STAR CHEBI:33836 biolink:ChemicalSubstance benzenoid aromatic compound hp.json benzenoid compound|benzenoid aromatic compounds http://purl.obolibrary.org/obo/CHEBI_33836 3_STAR CHEBI:33837 biolink:ChemicalSubstance conjugated protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. COMe:PRX000001 hp.json conjugated proteins|complex protein http://purl.obolibrary.org/obo/CHEBI_33837 3_STAR CHEBI:33839 biolink:ChemicalSubstance macromolecule A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. Wikipedia:Macromolecule hp.json polymer|polymer molecule|polymers|macromolecule|macromolecules http://purl.obolibrary.org/obo/CHEBI_33839 3_STAR HP:0002179 biolink:PhenotypicFeature Opisthotonus UMLS:C0151818|SNOMEDCT_US:8652009 hp.json Opisthotonos http://purl.obolibrary.org/obo/HP_0002179 CHEBI:33832 biolink:ChemicalSubstance organic cyclic compound Any organic molecule that consists of atoms connected in the form of a ring. hp.json organic cyclic compounds http://purl.obolibrary.org/obo/CHEBI_33832 3_STAR HP:0002171 biolink:PhenotypicFeature Gliosis Gliosis is the focal proliferation of glial cells in the central nervous system. SNOMEDCT_US:359580009|SNOMEDCT_US:81415000|MSH:D005911|UMLS:C0017639 hp.json Excess astrocytes in brain|Cerebral gliosis http://purl.obolibrary.org/obo/HP_0002171 HP:0100729 biolink:PhenotypicFeature Large face UMLS:C2748652 hp.json Large facies|Large face|Big face http://purl.obolibrary.org/obo/HP_0100729 HP:0002172 biolink:PhenotypicFeature Postural instability A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. UMLS:C1843921 hp.json Balance impairment|Abnormal retropulsion test|Imbalance http://purl.obolibrary.org/obo/HP_0002172 HP:0100727 biolink:PhenotypicFeature Histiocytosis An excessive number of histiocytes (tissue macrophages). UMLS:C0019618|SNOMEDCT_US:60657004|SNOMEDCT_US:65396000|MSH:D015614 hp.json http://purl.obolibrary.org/obo/HP_0100727 HP:0100728 biolink:PhenotypicFeature Germ cell neoplasia NCIT:C3708|UMLS:C4021985 hp.json http://purl.obolibrary.org/obo/HP_0100728 HP:0002170 biolink:PhenotypicFeature Intracranial hemorrhage Hemorrhage occurring within the skull. SNOMEDCT_US:1386000|MSH:D020300|UMLS:C0151699 hp.json Bleeding within the skull|Intracranial haemorrhage http://purl.obolibrary.org/obo/HP_0002170 HP:0100725 biolink:PhenotypicFeature Lichenification Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. SNOMEDCT_US:19940005|UMLS:C0023653|SNOMEDCT_US:402237006 hp.json http://purl.obolibrary.org/obo/HP_0100725 HP:0100726 biolink:PhenotypicFeature Kaposi's sarcoma A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV). SNOMEDCT_US:109385007|UMLS:C0036220|MSH:D012514|SNOMEDCT_US:49937004 hp.json http://purl.obolibrary.org/obo/HP_0100726 HP:0002176 biolink:PhenotypicFeature Spinal cord compression External mechanical compression of the spinal cord. MSH:D013117|SNOMEDCT_US:71286001|UMLS:C0037926 hp.json Pressure on spinal cord http://purl.obolibrary.org/obo/HP_0002176 HP:0100723 biolink:PhenotypicFeature Gastrointestinal stroma tumor SNOMEDCT_US:128755003|MSH:D046152|SNOMEDCT_US:420120006|UMLS:C0238198 hp.json Gastrointestinal stroma tumour|GI stroma tumor|Gastrointestinal stromal tumor|GIST|Gastrointestinal stromal tumours|Gastrointestinal stromal tumour|Gastrointestinal stromal tumors|GI stroma tumour http://purl.obolibrary.org/obo/HP_0100723 HP:0002173 biolink:PhenotypicFeature Hypoglycemic seizures UMLS:C0877056 hp.json http://purl.obolibrary.org/obo/HP_0002173 HP:0100724 biolink:PhenotypicFeature Hypercoagulability An abnormality of coagulation associated with an increased risk of thrombosis. UMLS:C0398623|SNOMEDCT_US:234467004|MSH:D019851|SNOMEDCT_US:76612001 hp.json Thrombophilia|Blood hyperviscosity http://purl.obolibrary.org/obo/HP_0100724 HP:0002174 biolink:PhenotypicFeature Postural tremor A type of tremors that is triggered by holding a limb in a fixed position. MSH:D014202|UMLS:C0234378|SNOMEDCT_US:56610005 hp.json Tremor, postural http://purl.obolibrary.org/obo/HP_0002174 HP:0100732 biolink:PhenotypicFeature Pancreatic fibrosis SNOMEDCT_US:25942009|UMLS:C0267952 hp.json http://purl.obolibrary.org/obo/HP_0100732 HP:0100733 biolink:PhenotypicFeature Neoplasm of the parathyroid gland A tumor (abnormal growth of tissue) of the parathyroid gland. MSH:D010282|SNOMEDCT_US:127020005|NCIT:C3262|UMLS:C0030521 hp.json Parathyroid neoplasia http://purl.obolibrary.org/obo/HP_0100733 HP:0100730 biolink:PhenotypicFeature Bronchogenic cyst A rare congenital cystic lesion of the lungs in the mediastinum. SNOMEDCT_US:268194008|SNOMEDCT_US:9550003|MSH:D001994|UMLS:C0006281 hp.json http://purl.obolibrary.org/obo/HP_0100730 CHEBI:79209 biolink:ChemicalSubstance alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide A sialodiaosylceramide consisting of the trisaccharide alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose attached to the primary hydroxy function of a ceramide with undefined sphingoid base. PMID:8643456|PMID:1601877 hp.json ganglioside GM3 http://purl.obolibrary.org/obo/CHEBI_79209 3_STAR HP:0100731 biolink:PhenotypicFeature Transverse facial cleft A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. UMLS:C4020954 hp.json Lateral facial cleft http://purl.obolibrary.org/obo/HP_0100731 HP:0002190 biolink:PhenotypicFeature Choroid plexus cyst A cyst occurring within the choroid plexus within a cerebral ventricle. UMLS:C0338597|SNOMEDCT_US:230790004 hp.json http://purl.obolibrary.org/obo/HP_0002190 CHEBI:33847 biolink:ChemicalSubstance monocyclic arene A monocyclic aromatic hydrocarbon. hp.json monocyclic arenes http://purl.obolibrary.org/obo/CHEBI_33847 3_STAR HP:0002188 biolink:PhenotypicFeature Delayed CNS myelination Delayed myelination in the central nervous system. UMLS:C4021758 hp.json Delay in central nervous system myelination http://purl.obolibrary.org/obo/HP_0002188 HP:0002189 biolink:PhenotypicFeature obsolete Excessive daytime sleepiness hp.json http://purl.obolibrary.org/obo/HP_0002189 CHEBI:33842 biolink:ChemicalSubstance aromatic annulene hp.json aromatic annulenes http://purl.obolibrary.org/obo/CHEBI_33842 3_STAR HP:0002183 biolink:PhenotypicFeature Phonophobia An abnormally heightened sensitivity to loud sounds. MSH:D012001|UMLS:C0751466|SNOMEDCT_US:313387002 hp.json Fear of loud sounds http://purl.obolibrary.org/obo/HP_0002183 HP:0002180 biolink:PhenotypicFeature Neurodegeneration Progressive loss of neural cells and tissue. MSH:D009410|UMLS:C0524851|UMLS:C4020854|MSH:D019636|UMLS:C0027746 hp.json Progressive neurodegenerative disorder|Neurodegenerative disease|Ongoing loss of nerve cells|Neuro-degenerative disease http://purl.obolibrary.org/obo/HP_0002180 HP:0100738 biolink:PhenotypicFeature Abnormal eating behavior Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. UMLS:C4021982 hp.json Abnormal eating behavior|Abnormal eating behaviour http://purl.obolibrary.org/obo/HP_0100738 HP:0002181 biolink:PhenotypicFeature Cerebral edema Abnormal accumulation of fluid in the brain. MSH:D001929|UMLS:C0006114|UMLS:C1527311|SNOMEDCT_US:2032001 hp.json Cerebral oedema|Brain swelling|Swelling of brain|Brain oedema|Brain edema http://purl.obolibrary.org/obo/HP_0002181 HP:0100739 biolink:PhenotypicFeature Bulimia A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). UMLS:C0006370|MSH:D002032|SNOMEDCT_US:78004001 hp.json Binge and purge http://purl.obolibrary.org/obo/HP_0100739 HP:0002186 biolink:PhenotypicFeature Apraxia A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. UMLS:C0003635|MSH:D001072|SNOMEDCT_US:68345001|SNOMEDCT_US:6950007 hp.json Apraxias http://purl.obolibrary.org/obo/HP_0002186 HP:0100736 biolink:PhenotypicFeature Abnormal soft palate morphology An abnormality of the soft palate. UMLS:C4021984 hp.json Abnormality of the muscular palate|Abnormality of the velum palatinum|Abnormality of the velum|Abnormality of the soft palate http://purl.obolibrary.org/obo/HP_0100736 HP:0100737 biolink:PhenotypicFeature Abnormal hard palate morphology UMLS:C4021983 hp.json Abnormality of the hard palate|Abnormality of the secondary palate http://purl.obolibrary.org/obo/HP_0100737 HP:0002187 biolink:PhenotypicFeature Intellectual disability, profound Profound mental retardation is defined as an intelligence quotient (IQ) below 20. UMLS:C0020796|MSH:D008607|SNOMEDCT_US:31216003|UMLS:C3161330 hp.json Profound mental retardation|IQ less than 20|Mental retardation, profound http://purl.obolibrary.org/obo/HP_0002187 HP:0100734 biolink:PhenotypicFeature Abnormality of vertebral epiphysis morphology An anomaly of one or more epiphyses of one or more vertebrae. UMLS:C4020953 hp.json Abnormal shape of the end part of the vertebra bone|Abnormality of the vertebral epiphyses http://purl.obolibrary.org/obo/HP_0100734 HP:0002185 biolink:PhenotypicFeature Neurofibrillary tangles Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. MSH:D016874|SNOMEDCT_US:85775002|UMLS:C0085400 hp.json Neurofibrillary tangles composed of disordered microtubules in neurons|Paired helical filaments http://purl.obolibrary.org/obo/HP_0002185 HP:0100735 biolink:PhenotypicFeature Hypertensive crisis UMLS:C0020546|SNOMEDCT_US:706882009 hp.json http://purl.obolibrary.org/obo/HP_0100735 HP:0100743 biolink:PhenotypicFeature Neoplasm of the rectum NCIT:C3262|MSH:D012004|SNOMEDCT_US:126847008|UMLS:C0034885 hp.json Rectal tumor|Rectal tumour http://purl.obolibrary.org/obo/HP_0100743 HP:0100744 biolink:PhenotypicFeature Abnormality of the humeroradial joint UMLS:C4021981 hp.json http://purl.obolibrary.org/obo/HP_0100744 HP:0100742 biolink:PhenotypicFeature Vascular neoplasm A benign or malignant neoplasm (tumour) originating in the vascular system. UMLS:C0282607|NCIT:C3262|MSH:D019043|MSH:D009383|SNOMEDCT_US:699605009|SNOMEDCT_US:115235003|SNOMEDCT_US:126736007|UMLS:C0027668 hp.json Blood vessel tumor|Blood vessel tumour http://purl.obolibrary.org/obo/HP_0100742 HP:0002157 biolink:PhenotypicFeature Azotemia An increased concentration of nitrogen compounds in the blood. UMLS:C0242528|MSH:D053099|SNOMEDCT_US:445009001 hp.json Azotaemia http://purl.obolibrary.org/obo/HP_0002157 HP:0002155 biolink:PhenotypicFeature Hypertriglyceridemia An abnormal increase in the level of triglycerides in the blood. UMLS:C1522137 hp.json Increased serum triglycerides|Increased circulating Tg levels|Increased triglycerides|Increased plasma triglycerides|Increased plasma Tg levels http://purl.obolibrary.org/obo/HP_0002155 HP:0002156 biolink:PhenotypicFeature Homocystinuria An increased concentration of homocystine in the urine. UMLS:C0019880|MSH:D006712|SNOMEDCT_US:11282001 hp.json High urine homocystine levels http://purl.obolibrary.org/obo/HP_0002156 CHEBI:79210 biolink:ChemicalSubstance alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(1-) An anionic ganglioside that is the conjugate base of alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide arising from deprotonation of the neuraminosyl carboxy group; major species at pH 7.3. PMID:8643456|PMID:1601877 hp.json ganglioside GM3(1-)|ganglioside GM3 http://purl.obolibrary.org/obo/CHEBI_79210 3_STAR HP:0002159 biolink:PhenotypicFeature Heparan sulfate excretion in urine An increased concentration of heparan sulfates in the urine. UMLS:C1854827 hp.json Heparan sulphate excretion in urine http://purl.obolibrary.org/obo/HP_0002159 HP:0002150 biolink:PhenotypicFeature Hypercalciuria UMLS:C0020438|SNOMEDCT_US:71938000|MSH:D053565 hp.json Elevated urine calcium levels|Hypercalcinuria http://purl.obolibrary.org/obo/HP_0002150 HP:0100749 biolink:PhenotypicFeature Chest pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. SNOMEDCT_US:29857009|MSH:D002637|UMLS:C0008031 hp.json Chest pain|Chest discomfort|Thoracic pain http://purl.obolibrary.org/obo/HP_0100749 HP:0002153 biolink:PhenotypicFeature Hyperkalemia An abnormally increased potassium concentration in the blood. MSH:D006947|UMLS:C0020461|SNOMEDCT_US:166689004|SNOMEDCT_US:238142003|SNOMEDCT_US:14140009 hp.json Elevated serum potassium levels http://purl.obolibrary.org/obo/HP_0002153 HP:0100747 biolink:PhenotypicFeature Macrodactyly of toe A type of Macrodactyly affecting one or several toes. UMLS:C2931596|MSH:C537719 hp.json Foot macrodactyly http://purl.obolibrary.org/obo/HP_0100747 HP:0002154 biolink:PhenotypicFeature Hyperglycinemia An elevated concentration of glycine in the blood. SNOMEDCT_US:64654004|UMLS:C0268559 hp.json Elevated blood glycine levels|Hyperglycinaemia http://purl.obolibrary.org/obo/HP_0002154 CHEBI:18211 biolink:ChemicalSubstance citrulline The parent compound of the citrulline class consisting of ornithine having a carbamoyl group at the N(5)-position. PMID:17513438|Wikipedia:Citrulline|PMID:18440672|PMID:11094453|PMID:11113071|PMID:11696417|PMID:21129371|CAS:627-77-0|Beilstein:2328251|PMID:17005970|PMID:17558653|PMID:18437289|PMID:16082501|PMID:17693747|PMID:18989563|CAS:627-77-0|Beilstein:1725417|Reaxys:1725417|PMID:19144577|PMID:16708633|PMID:21482070|PMID:1378088 hp.json DL-2-amino-5-ureidovaleric acid|2-Amino-5-uredovaleric acid|dl-citrulline|2-amino-5-(carbamoylamino)pentanoic acid|Citrulline|N(5)-(aminocarbonyl)ornithine|N(5)-(aminocarbonyl)-DL-ornithine|N(5)-carbamoylornithine|Citrullin|N(5)-carbamoyl-DL-ornithine|citrulline|citrulina|Cit http://purl.obolibrary.org/obo/CHEBI_18211 3_STAR HP:0100748 biolink:PhenotypicFeature Muscular edema UMLS:C4021979 hp.json Muscular oedema http://purl.obolibrary.org/obo/HP_0100748 HP:0002151 biolink:PhenotypicFeature Increased serum lactate Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). UMLS:C1836440 hp.json Higher than normal levels of lactate in blood|Increased blood lactate http://purl.obolibrary.org/obo/HP_0002151 HP:0100745 biolink:PhenotypicFeature Abnormality of the humeroulnar joint An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint. UMLS:C4021980 hp.json http://purl.obolibrary.org/obo/HP_0100745 HP:0100746 biolink:PhenotypicFeature Macrodactyly of finger A type of Macrodactyly affecting one or several fingers. MSH:C537720|UMLS:C0574044|SNOMEDCT_US:297195000 hp.json Macrodactyly of hands http://purl.obolibrary.org/obo/HP_0100746 HP:0002152 biolink:PhenotypicFeature Hyperproteinemia An increased concentration of proteins in the blood. UMLS:C0267988|SNOMEDCT_US:37064009 hp.json http://purl.obolibrary.org/obo/HP_0002152 HP:0100754 biolink:PhenotypicFeature Mania A state of abnormally elevated or irritable mood, arousal, and or energy levels. UMLS:C0338831|MSH:D001714|SNOMEDCT_US:231494001 hp.json Manic http://purl.obolibrary.org/obo/HP_0100754 HP:0100755 biolink:PhenotypicFeature Abnormality of salivation UMLS:C4021978 hp.json Abnormal spit|Abnormality of salivation http://purl.obolibrary.org/obo/HP_0100755 HP:0100752 biolink:PhenotypicFeature Abnormal liver lobulation Formation of abnormal lobules (small masses of tissue) in the liver. SNOMEDCT_US:253811003|UMLS:C0345286 hp.json Hepatic anomalous lobulation|Anomalous liver lobulation http://purl.obolibrary.org/obo/HP_0100752 HP:0100753 biolink:PhenotypicFeature Schizophrenia A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. UMLS:C0036341|MSH:D012559|SNOMEDCT_US:191526005|SNOMEDCT_US:58214004 hp.json http://purl.obolibrary.org/obo/HP_0100753 HP:0100750 biolink:PhenotypicFeature Atelectasis Collapse of part of a lung associated with absence of inflation (air) of that part. UMLS:C0004144|SNOMEDCT_US:46621007|MSH:D001261 hp.json Partial or complete collapse of part or entire lung|Pulmonary atelectasis http://purl.obolibrary.org/obo/HP_0100750 HP:0100751 biolink:PhenotypicFeature Esophageal neoplasm A tumor (abnormal growth of tissue) of the esophagus. MSH:D004938|NCIT:C3262|UMLS:C0014859|SNOMEDCT_US:126817006 hp.json Esophageal tumour|Esophageal tumor http://purl.obolibrary.org/obo/HP_0100751 NBO:0000886 biolink:NamedThing increased amount of liquid in drinking regulation hp.json http://purl.obolibrary.org/obo/NBO_0000886 CHEBI:33822 biolink:ChemicalSubstance organic hydroxy compound An organic compound having at least one hydroxy group attached to a carbon atom. hp.json hydroxy compounds|organic alcohol|organic hydroxy compounds http://purl.obolibrary.org/obo/CHEBI_33822 3_STAR HP:0002168 biolink:PhenotypicFeature Scanning speech An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly. UMLS:C0278184|SNOMEDCT_US:102935005|SNOMEDCT_US:77420001|UMLS:C0522198 hp.json Explosive speech http://purl.obolibrary.org/obo/HP_0002168 HP:0002169 biolink:PhenotypicFeature Clonus A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. UMLS:C0009024|SNOMEDCT_US:36649002 hp.json Involuntary rhythmic muscular contractions and relaxations http://purl.obolibrary.org/obo/HP_0002169 HP:0002166 biolink:PhenotypicFeature Impaired vibration sensation in the lower limbs A decrease in the ability to perceive vibration in the legs. UMLS:C1849134 hp.json Diminished vibratory sensation in the legs|Impaired vibration sensation in the lower limbs|Decreased lower limb vibratory sense|Distal vibratory impairment of the lower limbs|Decreased vibratory sense in the lower extremities|Decreased vibratory sense in the lower limbs|Decreased vibratory sense in lower limbs|Distal sensory loss, especially vibratory sense http://purl.obolibrary.org/obo/HP_0002166 HP:0002167 biolink:PhenotypicFeature Neurological speech impairment UMLS:C0037822|MSH:D013064 hp.json Speech impediment|Speech impairment|Speech disorder http://purl.obolibrary.org/obo/HP_0002167 HP:0002160 biolink:PhenotypicFeature Hyperhomocystinemia An increased concentration of homocystine in the blood. UMLS:C3806347 hp.json Elevated blood homocystine|Homocystinemia http://purl.obolibrary.org/obo/HP_0002160 HP:0002161 biolink:PhenotypicFeature Hyperlysinemia An increased concentration of lysine in the blood. UMLS:C0268553|SNOMEDCT_US:58558003|MSH:D020167 hp.json Elevated blood lysine http://purl.obolibrary.org/obo/HP_0002161 HP:0100758 biolink:PhenotypicFeature Gangrene A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). SNOMEDCT_US:36024000|SNOMEDCT_US:372070002|UMLS:C0017086|MSH:D005734 hp.json Death of body tissue due to lack of blood flow or infection http://purl.obolibrary.org/obo/HP_0100758 HP:0002164 biolink:PhenotypicFeature Nail dysplasia The presence of developmental dysplasia of the nail. UMLS:C1834405 hp.json Dysplastic nails|Atypical nail growth|Onychodysplasia http://purl.obolibrary.org/obo/HP_0002164 HP:0100759 biolink:PhenotypicFeature Clubbing of fingers Terminal broadening of the fingers (distal phalanges of the fingers). SNOMEDCT_US:30760008|UMLS:C0009080|MSH:D010005|MEDDRA:10016680 hp.json Clubbed fingers|Clubbing (hands)|Finger clubbing|Clubbing of fingers http://purl.obolibrary.org/obo/HP_0100759 hposlim_core HP:0002165 biolink:PhenotypicFeature Pterygium of nails Inward advance of skin over the nail plate. SNOMEDCT_US:110987009|UMLS:C0406438 hp.json Nail pterygium http://purl.obolibrary.org/obo/HP_0002165 HP:0002162 biolink:PhenotypicFeature Low posterior hairline Hair on the neck extends more inferiorly than usual. UMLS:C1855728 hp.json Low posterior hair line|Low hairline at back of neck http://purl.obolibrary.org/obo/HP_0002162 hposlim_core HP:0100757 biolink:PhenotypicFeature Pancreatoblastoma A rare pediatric carcinoma of the pancreas. UMLS:C0334489|SNOMEDCT_US:53618008|MSH:C537162 hp.json http://purl.obolibrary.org/obo/HP_0100757 HP:0004717 biolink:PhenotypicFeature Axial malrotation of the kidney An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. UMLS:C4025300 hp.json http://purl.obolibrary.org/obo/HP_0004717 HP:0004719 biolink:PhenotypicFeature Hyperechogenic kidneys An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. UMLS:C3275899 hp.json Increased echogenicity of the renal parenchyma|Echogenic kidneys http://purl.obolibrary.org/obo/HP_0004719 HP:0004713 biolink:PhenotypicFeature Reversible renal failure Acute renal failure with resolution of manifestations. UMLS:C1843276 hp.json Reversible renal failure|Reversible kidney failure http://purl.obolibrary.org/obo/HP_0004713 HP:0004712 biolink:PhenotypicFeature Renal malrotation An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. SNOMEDCT_US:49008000|UMLS:C0238210 hp.json Abnormal rotation of the kidneys|Malrotation of the kidney http://purl.obolibrary.org/obo/HP_0004712 HP:0004729 biolink:PhenotypicFeature Acute tubulointerstitial nephritis Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. UMLS:C1843274|MSH:C564356 hp.json http://purl.obolibrary.org/obo/HP_0004729 HP:0004727 biolink:PhenotypicFeature Impaired renal concentrating ability A defect in the ability to concentrate the urine. UMLS:C1859819 hp.json Urine concentration defect|Urine concentrating defect http://purl.obolibrary.org/obo/HP_0004727 HP:0004724 biolink:PhenotypicFeature Calcium nephrolithiasis The presence of calcium-containing calculi (stones) in the kidneys. UMLS:C1855801 hp.json Ca nephrolithiasis|Ca kidney stone|Calcium kidney stone|Ca2+ nephrolithiasis|Ca2+ kidney stone http://purl.obolibrary.org/obo/HP_0004724 HP:0004722 biolink:PhenotypicFeature Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. UMLS:C0445347|SNOMEDCT_US:264932002 hp.json http://purl.obolibrary.org/obo/HP_0004722 HP:0004704 biolink:PhenotypicFeature Short fifth metatarsal Short (hypoplastic) fifth metatarsal bone. UMLS:C4021649 hp.json Hypoplasia of the fifth metatarsal bone|Short 5th long bone of foot http://purl.obolibrary.org/obo/HP_0004704 CHEBI:43254 biolink:ChemicalSubstance (4S)-4-hydroxy-3,4-dihydropyrimidin-2(1H)-one hp.json http://purl.obolibrary.org/obo/CHEBI_43254 1_STAR CHEBI:18282 biolink:ChemicalSubstance nucleobase That part of DNA or RNA that may be involved in pairing. KEGG:C00701|Wikipedia:Nucleobase hp.json Base|nucleobases http://purl.obolibrary.org/obo/CHEBI_18282 3_STAR HP:0004759 biolink:PhenotypicFeature obsolete Nodular calcific aortic valve disease hp.json http://purl.obolibrary.org/obo/HP_0004759 HP:0004754 biolink:PhenotypicFeature Permanent atrial fibrillation Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. SNOMEDCT_US:426749004|SNOMEDCT_US:440028005|UMLS:C2586056|UMLS:C0694539 hp.json Chronic atrial fibrillation http://purl.obolibrary.org/obo/HP_0004754 PATO:0000161 biolink:NamedThing rate A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time. hp.json http://purl.obolibrary.org/obo/PATO_0000161 scalar_slim|attribute_slim HP:0004752 biolink:PhenotypicFeature Congenital atrioventricular dissociation A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset. UMLS:C4025299 hp.json http://purl.obolibrary.org/obo/HP_0004752 HP:0004751 biolink:PhenotypicFeature Paroxysmal ventricular tachycardia Episodes of ventricular tachycardia that have a sudden onset and ending. UMLS:C0030591|SNOMEDCT_US:66657009 hp.json Episodes of ventricular tachycardia http://purl.obolibrary.org/obo/HP_0004751 HP:0004758 biolink:PhenotypicFeature Effort-induced polymorphic ventricular tachycardia Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration. UMLS:C4025298 hp.json Exercise-induced polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/HP_0004758 HP:0004757 biolink:PhenotypicFeature Paroxysmal atrial fibrillation Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. SNOMEDCT_US:282825002|MSH:D001281|UMLS:C0235480 hp.json Intermittent atrial fibrillation|Paroxysmal AF|Atrial fibrillation, paroxysmal http://purl.obolibrary.org/obo/HP_0004757 HP:0004756 biolink:PhenotypicFeature Ventricular tachycardia A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Fyler:7160|SNOMEDCT_US:25569003|UMLS:C0042514|MSH:D017180 hp.json http://purl.obolibrary.org/obo/HP_0004756 HP:0004755 biolink:PhenotypicFeature Supraventricular tachycardia Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. MSH:D013617|SNOMEDCT_US:6456007|UMLS:C1698480|UMLS:C0039240 hp.json SVT|Supraventricular tachyarrhythmia http://purl.obolibrary.org/obo/HP_0004755 CHEBI:57887 biolink:ChemicalSubstance tryptaminium An ammonium ion that is the conjugate acid of tryptamine arising from protonation of the primary amino group; major species at pH 7.3. Gmelin:533978 hp.json 2-(1H-indol-3-yl)ethanaminium|tryptaminium(1+)|tryptamine|tryptaminium cation http://purl.obolibrary.org/obo/CHEBI_57887 3_STAR HP:0002108 biolink:PhenotypicFeature Spontaneous pneumothorax Pneumothorax occurring without traumatic injury to the chest or lung. MSH:D011030|UMLS:C0149781|SNOMEDCT_US:80423007 hp.json Spontaneous collapsed lung http://purl.obolibrary.org/obo/HP_0002108 HP:0002109 biolink:PhenotypicFeature obsolete Abnormality of the bronchi hp.json http://purl.obolibrary.org/obo/HP_0002109 HP:0002102 biolink:PhenotypicFeature Pleuritis Inflammation of the pleura. UMLS:C0032231|MSH:D010998|SNOMEDCT_US:196075003 hp.json Pleurisy|Inflammation of tissues lining lungs and chest http://purl.obolibrary.org/obo/HP_0002102 HP:0004764 biolink:PhenotypicFeature Myxomatous mitral valve degeneration Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. SNOMEDCT_US:42069006|SNOMEDCT_US:253395003|UMLS:C0264885 hp.json http://purl.obolibrary.org/obo/HP_0004764 HP:0002103 biolink:PhenotypicFeature Abnormal pleura morphology An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. UMLS:C4025726 hp.json Abnormality of the pleura http://purl.obolibrary.org/obo/HP_0002103 HP:0002100 biolink:PhenotypicFeature Recurrent aspiration pneumonia Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. UMLS:C0747651|SNOMEDCT_US:430969000 hp.json Recurrent pneumonia due to aspiration, http://purl.obolibrary.org/obo/HP_0002100 HP:0004763 biolink:PhenotypicFeature Paroxysmal supraventricular tachycardia An episodic form of supraventricular tachycardia with abrupt onset and termination. UMLS:C0030590|UMLS:C4280507|SNOMEDCT_US:67198005 hp.json Episodic supraventricular tachycardia|Episodic rapid heart beat http://purl.obolibrary.org/obo/HP_0004763 HP:0004762 biolink:PhenotypicFeature Hypoplasia of right ventricle Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. Fyler:1821|UMLS:C4082954 hp.json Small right heart chamber|Underdeveloped right heart chamber|Heart right ventricle hypoplasia http://purl.obolibrary.org/obo/HP_0004762 HP:0002101 biolink:PhenotypicFeature Abnormal lung lobation A developmental defect in the formation of pulmonary lobes. UMLS:C0685695|SNOMEDCT_US:91842005 hp.json Defective lung lobation|Lung segmentation defects http://purl.obolibrary.org/obo/HP_0002101 HP:0002107 biolink:PhenotypicFeature Pneumothorax Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. MSH:D011030|SNOMEDCT_US:36118008|UMLS:C0032326 hp.json Collapsed lung http://purl.obolibrary.org/obo/HP_0002107 HP:0004768 biolink:PhenotypicFeature Sparse anterior scalp hair Decreased number of head hairs per unit area on the anterior region of the scalp. UMLS:C1866246 hp.json Thin scalp hair at front of head|Sparse scalp hair at front of head http://purl.obolibrary.org/obo/HP_0004768 HP:0002104 biolink:PhenotypicFeature Apnea Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. UMLS:C0003578|SNOMEDCT_US:1023001|SNOMEDCT_US:248583008|MSH:D001049 hp.json Apnoea|Apneic episodes|Absence of spontaneous respiration http://purl.obolibrary.org/obo/HP_0002104 HP:0002105 biolink:PhenotypicFeature Hemoptysis Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. MSH:D006469|SNOMEDCT_US:66857006|UMLS:C0019079|SNOMEDCT_US:6686005 hp.json Haemoptysis|Coughing up blood|Coughing up blood or blood-stained mucus http://purl.obolibrary.org/obo/HP_0002105 HP:0004761 biolink:PhenotypicFeature Post-angioplasty coronary artery restenosis UMLS:C2676505 hp.json http://purl.obolibrary.org/obo/HP_0004761 HP:0004760 biolink:PhenotypicFeature obsolete Congenital septal defect hp.json http://purl.obolibrary.org/obo/HP_0004760 HP:0004737 biolink:PhenotypicFeature Global glomerulosclerosis Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. UMLS:C1865276 hp.json http://purl.obolibrary.org/obo/HP_0004737 HP:0004732 biolink:PhenotypicFeature Impaired renal uric acid clearance A reduction in the ability of the kidneys to remove uric acid from the serum. UMLS:C1969371 hp.json http://purl.obolibrary.org/obo/HP_0004732 CHEBI:33892 biolink:ChemicalSubstance iron coordination entity hp.json iron coordination entities|iron coordination compounds|iron coordination entity http://purl.obolibrary.org/obo/CHEBI_33892 3_STAR CHEBI:33893 biolink:ChemicalSubstance reagent A substance used in a chemical reaction to detect, measure, examine, or produce other substances. hp.json reactif|reactivo|reagent|reagents http://purl.obolibrary.org/obo/CHEBI_33893 3_STAR HP:0004736 biolink:PhenotypicFeature Crossed fused renal ectopia A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. UMLS:C1835796 hp.json Crossed-fused renal ectopia|Ectopic kidney with fusion http://purl.obolibrary.org/obo/HP_0004736 PATO:0000186 biolink:NamedThing behavioral quality An organismal quality inhering in a bearer by virtue of the bearer's behavior aggregate of the responses or reactions or movements in a given situation. hp.json behavioural quality http://purl.obolibrary.org/obo/PATO_0000186 HP:0004734 biolink:PhenotypicFeature Renal cortical microcysts Cysts of microscopic size confined to the cortex of the kidney. UMLS:C1865877 hp.json Multiple renal cortical microcysts|Cortical microcysts|Multiple small renal cortical cysts http://purl.obolibrary.org/obo/HP_0004734 PATO:0000188 biolink:NamedThing coordination A behavioral quality inhering in a bearer by virtue of the bearer's having or lacking skillful and effective interaction of movement. hp.json http://purl.obolibrary.org/obo/PATO_0000188 scalar_slim|disposition_slim|attribute_slim CHEBI:33890 biolink:ChemicalSubstance cobalt coordination entity hp.json cobalt coordination entities|cobalt coordination entity|cobalt coordination compounds http://purl.obolibrary.org/obo/CHEBI_33890 3_STAR HP:0004749 biolink:PhenotypicFeature Atrial flutter A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. UMLS:C0004239|MSH:D001282|SNOMEDCT_US:5370000 hp.json http://purl.obolibrary.org/obo/HP_0004749 HP:0004743 biolink:PhenotypicFeature Chronic tubulointerstitial nephritis Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. UMLS:C0238304|SNOMEDCT_US:60926001 hp.json http://purl.obolibrary.org/obo/HP_0004743 HP:0004742 biolink:PhenotypicFeature Abnormal renal collecting system morphology An abnormality of the renal collecting system. UMLS:C1851303 hp.json Abnormal collecting system|Abnormality of the renal collecting system|Renal collecting system anomalies http://purl.obolibrary.org/obo/HP_0004742 HP:0004746 biolink:PhenotypicFeature Glomerular subendothelial electron-dense deposits Electron dense deposits at the glomerular basement membrane, MSH:D015432|UMLS:C0268743|SNOMEDCT_US:59479006 hp.json Dense deposit disease|Membranoproliferative glomerulonephritis type II http://purl.obolibrary.org/obo/HP_0004746 CHEBI:18287 biolink:ChemicalSubstance L-fucose Any form of fucose having L configuration. CAS:2438-80-4|PMID:20877283 hp.json L-fucose|6-deoxy-L-galactose|(-)-L-fucose|L-(-)-fucose|(-)-fucose|L-galactomethylose|L-Fuc http://purl.obolibrary.org/obo/CHEBI_18287 3_STAR PATO:0000125 biolink:NamedThing mass A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter. hp.json http://purl.obolibrary.org/obo/PATO_0000125 scalar_slim|relational_slim|attribute_slim PATO:0000122 biolink:NamedThing length A 1-D extent quality which is equal to the distance between two points. hp.json http://purl.obolibrary.org/obo/PATO_0000122 scalar_slim|attribute_slim|mpath_slim PATO:0000136 biolink:NamedThing closure A morphological quality pertaining to the degree to which an object contains an opening, aperture, orifice or vent. hp.json http://purl.obolibrary.org/obo/PATO_0000136 attribute_slim PATO:0000133 biolink:NamedThing orientation A spatial quality inhering in a bearer by virtue of the bearer's placement which is defined by the angle between the bearer and an axis, or the angle between the bearer and another object. hp.json angle|angular magnitude|plane angle|amount of rotation|angular placement http://purl.obolibrary.org/obo/PATO_0000133 relational_slim|attribute_slim PATO:0000141 biolink:NamedThing structure A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form. hp.json conformation|relational structural quality http://purl.obolibrary.org/obo/PATO_0000141 attribute_slim PATO:0000140 biolink:NamedThing position A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity. hp.json relational spatial quality|location|placement http://purl.obolibrary.org/obo/PATO_0000140 attribute_slim GO:0030595 biolink:BiologicalProcess leukocyte chemotaxis The movement of a leukocyte in response to an external stimulus. hp.json immune cell chemotaxis|leucocyte chemotaxis http://purl.obolibrary.org/obo/GO_0030595 GO:0030593 biolink:BiologicalProcess neutrophil chemotaxis The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. hp.json http://purl.obolibrary.org/obo/GO_0030593 PR:P22091 biolink:Protein T-cell acute lymphocytic leukemia protein 1 homolog (mouse) A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of mouse. UniProtKB:P22091 hp.json Stem cell protein (mouse)|Tal-1|Tal1|mTAL1|Scl|TAL-1 (mouse) http://purl.obolibrary.org/obo/PR_P22091 PATO:0000150 biolink:NamedThing texture A morphologic quality inhering in a bearer by virtue of the bearer's relative size, organization and distribution of its surface elements or the representation or invention of the appearance of its surface; visual and tactile surface characteristics. hp.json http://purl.obolibrary.org/obo/PATO_0000150 attribute_slim HP:0004916 biolink:PhenotypicFeature Generalized distal tubular acidosis UMLS:C4025275 hp.json Generalised distal tubular acidosis http://purl.obolibrary.org/obo/HP_0004916 HP:0004915 biolink:PhenotypicFeature Impairment of galactose metabolism An impairment of galactose metabolism. UMLS:C4021643 hp.json Impaired galactose metabolism http://purl.obolibrary.org/obo/HP_0004915 HP:0004914 biolink:PhenotypicFeature Recurrent infantile hypoglycemia Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period. UMLS:C4021644 hp.json Episodic infantile hypoglycemia|Recurrent low blood sugar in infant http://purl.obolibrary.org/obo/HP_0004914 HP:0004913 biolink:PhenotypicFeature Intermittent lactic acidemia An intermittent (discontinuous) form of lactic acidemia. UMLS:C1844917 hp.json http://purl.obolibrary.org/obo/HP_0004913 HP:0004919 biolink:PhenotypicFeature Galactose intolerance SNOMEDCT_US:190745006|UMLS:C0016952|MSH:D005693|SNOMEDCT_US:190749000 hp.json http://purl.obolibrary.org/obo/HP_0004919 HP:0004918 biolink:PhenotypicFeature Hyperchloremic metabolic acidosis A form of metabolic acidosis with increased serum chloride levels. UMLS:C1969073 hp.json Non-gap acidosis http://purl.obolibrary.org/obo/HP_0004918 HP:0004912 biolink:PhenotypicFeature Hypophosphatemic rickets SNOMEDCT_US:66266003|MSH:D063730|UMLS:C1704375 hp.json http://purl.obolibrary.org/obo/HP_0004912 HP:0004911 biolink:PhenotypicFeature Episodic metabolic acidosis Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. UMLS:C1859516 hp.json Recurrent episodes of acidosis http://purl.obolibrary.org/obo/HP_0004911 HP:0004910 biolink:PhenotypicFeature Bicarbonate-wasting renal tubular acidosis UMLS:C1858626 hp.json HCO3-wasting renal tubular acidosis|Renal bicarbonate wasting http://purl.obolibrary.org/obo/HP_0004910 HP:0004927 biolink:PhenotypicFeature Pulmonary artery dilatation An abnormal widening of the diameter of the pulmonary artery. SNOMEDCT_US:251047005|UMLS:C0428851 hp.json http://purl.obolibrary.org/obo/HP_0004927 HP:0004926 biolink:PhenotypicFeature Orthostatic hypotension due to autonomic dysfunction UMLS:C1868528 hp.json http://purl.obolibrary.org/obo/HP_0004926 HP:0004925 biolink:PhenotypicFeature Chronic lactic acidosis A chronic form of lactic acidemia. UMLS:C1839437 hp.json http://purl.obolibrary.org/obo/HP_0004925 HP:0004924 biolink:PhenotypicFeature Abnormal oral glucose tolerance An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. UMLS:C1847425 hp.json Abnormal glucose oral tolerance test http://purl.obolibrary.org/obo/HP_0004924 HP:0004929 biolink:PhenotypicFeature obsolete Coronary atherosclerosis hp.json http://purl.obolibrary.org/obo/HP_0004929 HP:0004928 biolink:PhenotypicFeature obsolete Peripheral arterial stenosis hp.json http://purl.obolibrary.org/obo/HP_0004928 HP:0004923 biolink:PhenotypicFeature Hyperphenylalaninemia An increased concentration of L-phenylalanine in the blood. UMLS:C0751435|SNOMEDCT_US:68528007|MSH:D010661 hp.json http://purl.obolibrary.org/obo/HP_0004923 RO:0002598 biolink:NamedThing capable of positively regulating Holds between c and p if and only if c is capable of some activity a, and a positively regulates p. hp.json http://purl.obolibrary.org/obo/RO_0002598 HP:0004922 biolink:PhenotypicFeature Atypical hyperphenylalaninemia UMLS:C4025273 hp.json http://purl.obolibrary.org/obo/HP_0004922 HP:0004921 biolink:PhenotypicFeature Abnormal magnesium concentration An abnormality of magnesium ion homeostasis. UMLS:C4020826|UMLS:C4025274 hp.json Abnormal Mg concentration|Abnormality of magnesium homeostasis|Abnormal magnesium metabolism http://purl.obolibrary.org/obo/HP_0004921 HP:0004920 biolink:PhenotypicFeature Phenylpyruvic acidemia UMLS:C1849926 hp.json http://purl.obolibrary.org/obo/HP_0004920 RO:0002595 biolink:NamedThing causal relation between material entity and a process A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. hp.json http://purl.obolibrary.org/obo/RO_0002595 RO:0002596 biolink:NamedThing capable of regulating Holds between c and p if and only if c is capable of some activity a, and a regulates p. hp.json http://purl.obolibrary.org/obo/RO_0002596 RO:0002597 biolink:NamedThing capable of negatively regulating Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p. hp.json http://purl.obolibrary.org/obo/RO_0002597 RO:0002590 biolink:NamedThing results_in_disassembly_of RO:0002590 hp.json http://purl.obolibrary.org/obo/RO_0002590 RO:0002592 biolink:NamedThing results in organization of p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c RO:0002592 hp.json http://purl.obolibrary.org/obo/RO_0002592 RO:0002588 biolink:NamedThing results_in_assembly_of RO:0002588 hp.json http://purl.obolibrary.org/obo/RO_0002588 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension HP:0004905 biolink:PhenotypicFeature Low levels of vitamin A A reduced concentration of vitamin A. UMLS:C0042842|SNOMEDCT_US:72000004|MSH:D014802 hp.json Vitamin A deficiency http://purl.obolibrary.org/obo/HP_0004905 HP:0004904 biolink:PhenotypicFeature Maturity-onset diabetes of the young The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells. SNOMEDCT_US:609561005|MSH:C562772|UMLS:C0342276 hp.json Maturity onset diabetes of the young|MODY http://purl.obolibrary.org/obo/HP_0004904 RO:0002584 biolink:NamedThing has part structure that is capable of s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p hp.json http://purl.obolibrary.org/obo/RO_0002584 HP:0004902 biolink:PhenotypicFeature Congenital lactic acidosis A form of lactic acidemia with congenital onset. UMLS:C4025276 hp.json http://purl.obolibrary.org/obo/HP_0004902 RO:0002586 biolink:NamedThing results in breakdown of p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p hp.json http://purl.obolibrary.org/obo/RO_0002586 HP:0004909 biolink:PhenotypicFeature Hypokalemic hypochloremic metabolic alkalosis UMLS:C0740896 hp.json http://purl.obolibrary.org/obo/HP_0004909 PATO:0000117 biolink:NamedThing size A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. hp.json http://purl.obolibrary.org/obo/PATO_0000117 scalar_slim|attribute_slim RO:0002581 biolink:NamedThing is a defining property chain axiom If R <- P o Q is a defining property chain axiom, then it also holds that R -> P o Q. Note that this cannot be expressed directly in OWL hp.json http://purl.obolibrary.org/obo/RO_0002581 HP:0004906 biolink:PhenotypicFeature Hypernatremic dehydration UMLS:C1850544|SNOMEDCT_US:427784006 hp.json http://purl.obolibrary.org/obo/HP_0004906 CHEBI:43176 biolink:ChemicalSubstance hydroxy group PDBeChem:OH hp.json hydroxy|hydroxyl|hydroxyl group|HYDROXY GROUP|-OH|hydroxy group http://purl.obolibrary.org/obo/CHEBI_43176 3_STAR PATO:0000119 biolink:NamedThing height A 1-D extent quality inhering in a bearer by virtue of the bearer's vertical dimension of extension. hp.json http://purl.obolibrary.org/obo/PATO_0000119 scalar_slim|attribute_slim RO:0002582 biolink:NamedThing is a defining property chain axiom where second argument is reflexive If R <- P o Q is a defining property chain axiom, then (1) R -> P o Q holds and (2) Q is either reflexive or locally reflexive. A corollary of this is that P SubPropertyOf R. hp.json http://purl.obolibrary.org/obo/RO_0002582 RO:0002576 biolink:NamedThing skeleton of inverse of has skeleton RO:0002576 hp.json http://purl.obolibrary.org/obo/RO_0002576 http://purl.obolibrary.org/obo/RO_0002259 HP:0004901 biolink:PhenotypicFeature Exercise-induced lactic acidemia A form of lactic acidemia that occurs following exercise or exertion. UMLS:C4025277 hp.json Exercise-induced lactic acidosis http://purl.obolibrary.org/obo/HP_0004901 HP:0004900 biolink:PhenotypicFeature Severe lactic acidosis A severe form of lactic acidemia. UMLS:C1839436 hp.json http://purl.obolibrary.org/obo/HP_0004900 RO:0002577 biolink:NamedThing system A material entity consisting of multiple components that are causally integrated. hp.json http://purl.obolibrary.org/obo/RO_0002577 RO:0002578 biolink:NamedThing directly regulates Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2. hp.json http://purl.obolibrary.org/obo/RO_0002578 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension HP:0100523 biolink:PhenotypicFeature Liver abscess The presence of an abscess of the liver. SNOMEDCT_US:27916005|UMLS:C0023885|MSH:D008100 hp.json Hepatic abscess|Liver abscess http://purl.obolibrary.org/obo/HP_0100523 HP:0100524 biolink:PhenotypicFeature Limb duplication Congenital duplication of all or part of a limb. UMLS:C0265551|SNOMEDCT_US:34488005 hp.json Dimelia|Limb duplication http://purl.obolibrary.org/obo/HP_0100524 hposlim_core HP:0100521 biolink:PhenotypicFeature Neoplasm of the thymus A tumor (abnormal growth of tissue) of the thymus. MSH:D013953|SNOMEDCT_US:127231009|UMLS:C3714644|NCIT:C3262 hp.json http://purl.obolibrary.org/obo/HP_0100521 HP:0100522 biolink:PhenotypicFeature Thymoma A tumor originating from the epithelial cells of the thymus. SNOMEDCT_US:444231005|UMLS:C0040100|SNOMEDCT_US:128856005|NCIT:C3411|MSH:D013945 hp.json http://purl.obolibrary.org/obo/HP_0100522 HP:0100520 biolink:PhenotypicFeature Oliguria Low output of urine, clinically classified as an output below 300-500ml/day. MSH:D009846|SNOMEDCT_US:718403007|UMLS:C0028961|SNOMEDCT_US:83128009 hp.json http://purl.obolibrary.org/obo/HP_0100520 RO:0002572 biolink:NamedThing luminal space of s is luminal space of x iff s is lumen_of x and s is an immaterial entity RO:0002572 hp.json http://purl.obolibrary.org/obo/RO_0002572 ro-eco RO:0002573 biolink:NamedThing has modifier A relation that holds between an attribute or a qualifier and another attribute. RO:0002180 hp.json http://purl.obolibrary.org/obo/RO_0002573 ro-eco RO:0002571 biolink:NamedThing lumen of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. RO:0002571 hp.json http://purl.obolibrary.org/obo/RO_0002571 ro-eco RO:0002569 biolink:NamedThing has branching part inverse of branching part of RO:0002569 hp.json http://purl.obolibrary.org/obo/RO_0002569 ro-eco|http://purl.obolibrary.org/obo/RO_0002259 RO:0002565 biolink:NamedThing results in movement of Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c RO:0002565 hp.json http://purl.obolibrary.org/obo/RO_0002565 http://purl.obolibrary.org/obo/valid_for_go_ontology|http://purl.obolibrary.org/obo/valid_for_gocam|http://purl.obolibrary.org/obo/valid_for_go_annotation_extension RO:0002566 biolink:NamedThing causally influences The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size). hp.json http://purl.obolibrary.org/obo/RO_0002566 RO:0002567 biolink:NamedThing biomechanically related to A relation that holds between elements of a musculoskeletal system or its analogs. hp.json http://purl.obolibrary.org/obo/RO_0002567 RO:0002568 biolink:NamedThing has muscle antagonist m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position. RO:0002568 hp.json http://purl.obolibrary.org/obo/RO_0002568 HP:0100529 biolink:PhenotypicFeature Abnormal blood phosphate concentration An abnormality of phosphate homeostasis or concentration in the body. UMLS:C4022032 hp.json Abnormality of phosphate homeostasis http://purl.obolibrary.org/obo/HP_0100529 HP:0100527 biolink:PhenotypicFeature Neoplasia of the pleura NCIT:C3262|UMLS:C4022033 hp.json http://purl.obolibrary.org/obo/HP_0100527 HP:0100528 biolink:PhenotypicFeature Pleuropulmonary blastoma A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant. SNOMEDCT_US:707670009|SNOMEDCT_US:128763002|NCIT:C3732|MSH:C537516|UMLS:C1266144 hp.json http://purl.obolibrary.org/obo/HP_0100528 HP:0100525 biolink:PhenotypicFeature Urachus fistula Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus. SNOMEDCT_US:398320008|SNOMEDCT_US:50986000|UMLS:C0345344 hp.json http://purl.obolibrary.org/obo/HP_0100525 HP:0100526 biolink:PhenotypicFeature Neoplasm of the lung Tumor of the lung. NCIT:C3262|MSH:D008175|SNOMEDCT_US:126713003|UMLS:C0024121 hp.json Lung tumour|Lung cancer|Lung tumor http://purl.obolibrary.org/obo/HP_0100526 HP:0100534 biolink:PhenotypicFeature Episcleritis Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. SNOMEDCT_US:815008|MSH:D015423|UMLS:C0014583 hp.json Inflammation of the thin layer on top of the white part of eye http://purl.obolibrary.org/obo/HP_0100534 hposlim_core HP:0100535 biolink:PhenotypicFeature Tibiofibular diastasis UMLS:C4022029 hp.json http://purl.obolibrary.org/obo/HP_0100535 HP:0100532 biolink:PhenotypicFeature Scleritis Inflammation of the sclera. UMLS:C0036416|SNOMEDCT_US:78370002|MSH:D015423 hp.json Inflammation of the outer white part of the eye http://purl.obolibrary.org/obo/HP_0100532 hposlim_core CHEBI:67142 biolink:ChemicalSubstance nucleobase analogue A molecule that can substitute for a normal nucleobase in nucleic acids. Wikipedia:Base_analog hp.json base analog|base analogue|nucleobase analogs|nucleobase analogues|nucleobase analog|base analogs|base analogues http://purl.obolibrary.org/obo/CHEBI_67142 3_STAR HP:0100533 biolink:PhenotypicFeature Inflammatory abnormality of the eye Inflammation of the eye, parts of the eye or the periorbital region. UMLS:C4020969 hp.json Ocular inflammation|Inflammatory abnormality of the eye http://purl.obolibrary.org/obo/HP_0100533 HP:0100530 biolink:PhenotypicFeature Abnormal calcium-phosphate regulating hormone level Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. UMLS:C4022031 hp.json Abnormal Ca-PHOS regulating hormone level|Abnormal Ca2+ PO4 regulating hormone level http://purl.obolibrary.org/obo/HP_0100530 HP:0100531 biolink:PhenotypicFeature Wind-swept deformity of the knees The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. UMLS:C4022030 hp.json Wind-swept deformity of the knees http://purl.obolibrary.org/obo/HP_0100531 RO:0002563 biolink:NamedThing interaction relation helper property hp.json http://purl.obolibrary.org/obo/RO_0002563 RO:0002564 biolink:NamedThing molecular interaction relation helper property hp.json http://purl.obolibrary.org/obo/RO_0002564 RO:0002559 biolink:NamedThing causally influenced by hp.json http://purl.obolibrary.org/obo/RO_0002559 HP:0100538 biolink:PhenotypicFeature Abnormality of the supraorbital ridges An anomaly of the supraorbital portion of the frontal bones. UMLS:C4022027 hp.json Abnormality of the brow of the face|Malformation of the supraorbital ridges|Deformity of the supraorbital ridges|Malformation of the supraorbital margins|Deformity of the supraorbital margins http://purl.obolibrary.org/obo/HP_0100538 HP:0100539 biolink:PhenotypicFeature Periorbital edema Edema affecting the region situated around the orbit of the eye. SNOMEDCT_US:267041004|SNOMEDCT_US:109245003|UMLS:C0151205|UMLS:C0424810|SNOMEDCT_US:49563000|UMLS:C0149754 hp.json Periorbital oedema|Periorbital cellulitis http://purl.obolibrary.org/obo/HP_0100539 HP:0100536 biolink:PhenotypicFeature Abnormality of the fascia An abnormality of fascia. UMLS:C4022028 hp.json http://purl.obolibrary.org/obo/HP_0100536 HP:0100537 biolink:PhenotypicFeature Fasciitis Inflammation of fascia, the tissue under the skin and over the muscle. SNOMEDCT_US:36948007|MSH:D005208|UMLS:C0015645 hp.json Inflammation of the fascia http://purl.obolibrary.org/obo/HP_0100537 HP:0100545 biolink:PhenotypicFeature Arterial stenosis Narrowing or constriction of the inner surface (lumen) of an artery. UMLS:C0038449|SNOMEDCT_US:68109007 hp.json Narrowing of an artery http://purl.obolibrary.org/obo/HP_0100545 HP:0100546 biolink:PhenotypicFeature Carotid artery stenosis Narrowing of the carotid arteries. UMLS:C0007282|MSH:D016893|SNOMEDCT_US:64586002 hp.json Narrowing of carotid artery|Carotid stenosis http://purl.obolibrary.org/obo/HP_0100546 HP:0100543 biolink:PhenotypicFeature Cognitive impairment Abnormal cognition with deficits in thinking, reasoning, or remembering. SNOMEDCT_US:386806002|MSH:D060825|UMLS:C0683322|UMLS:C0338656 hp.json Cognitive impairment|Cognitive abnormality|Cognitive deficits|Intellectual impairment|Cognitive defects|Abnormality of cognition http://purl.obolibrary.org/obo/HP_0100543 HP:0100544 biolink:PhenotypicFeature Neoplasm of the heart A tumor (abnormal growth of tissue) of the heart. MSH:D006338|SNOMEDCT_US:387842002|NCIT:C3262|UMLS:C0018809 hp.json Heart tumor|Cardiac neoplasm|Heart tumour|Cardiac neoplasia http://purl.obolibrary.org/obo/HP_0100544 HP:0100541 biolink:PhenotypicFeature Femoral hernia A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. SNOMEDCT_US:50063009|MEDDRA:10016434|MSH:D006550|UMLS:C0019288 hp.json Crural hernia http://purl.obolibrary.org/obo/HP_0100541 hposlim_core HP:0100542 biolink:PhenotypicFeature Abnormal localization of kidney An abnormal site of the kidney. UMLS:C4020968 hp.json Abnormal localisation of kidneys http://purl.obolibrary.org/obo/HP_0100542 HP:0100540 biolink:PhenotypicFeature Palpebral edema Edema in the region of the eyelids. UMLS:C0162285|SNOMEDCT_US:89091004 hp.json Puffy lids|Edema of the eyelids|Swelling of eyelids|Oedema of the eyelids|Puffy eyelids|Fullness of eyelids|Eyelid oedema|Eyelid edema|Palpebral oedema http://purl.obolibrary.org/obo/HP_0100540 RO:0002551 biolink:NamedThing has skeleton A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. RO:0002551 hp.json has supporting framework|has sekeletal support http://purl.obolibrary.org/obo/RO_0002551 HP:0100547 biolink:PhenotypicFeature Abnormal forebrain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. UMLS:C4020967 hp.json Abnormal shape of forebrain|Abnormality of forebrain morphology|Abnormality of the forebrain http://purl.obolibrary.org/obo/HP_0100547 HP:0100548 biolink:PhenotypicFeature Exstrophy Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. SNOMEDCT_US:110407002|UMLS:C0015338 hp.json http://purl.obolibrary.org/obo/HP_0100548 HP:0100556 biolink:PhenotypicFeature Hemiatrophy Undergrowth of the limbs that affects only one side. SNOMEDCT_US:34087007|UMLS:C0333662 hp.json Asymmetric limb shortening|Hemiatrophy of the body http://purl.obolibrary.org/obo/HP_0100556 HP:0100557 biolink:PhenotypicFeature Hemiatrophy of lower limb Unilateral atrophy (reduction in size) of a leg. SNOMEDCT_US:709411004|UMLS:C0431934 hp.json Asymmetric lower limb shortening http://purl.obolibrary.org/obo/HP_0100557 HP:0100554 biolink:PhenotypicFeature Hemihypertrophy of upper limb Overgrowth of only one arm. UMLS:C0431810|SNOMEDCT_US:253920006 hp.json Overgrowth of one arm http://purl.obolibrary.org/obo/HP_0100554 HP:0100555 biolink:PhenotypicFeature Asymmetric growth A growth pattern that displays an abnormal difference between the left and the right side. UMLS:C4022025 hp.json Uneven or disproportionate growth of one body part compared to another http://purl.obolibrary.org/obo/HP_0100555 HP:0100552 biolink:PhenotypicFeature Neoplasm of the tracheobronchial system NCIT:C3262|UMLS:C4022026 hp.json http://purl.obolibrary.org/obo/HP_0100552 HP:0100553 biolink:PhenotypicFeature Hemihypertrophy of lower limb Overgrowth of only one leg. UMLS:C0431928|SNOMEDCT_US:205369009 hp.json Overgrowth of one leg http://purl.obolibrary.org/obo/HP_0100553 HP:0100550 biolink:PhenotypicFeature Tendon rupture Breakage (tear) of a tendon. SNOMEDCT_US:415749005|UMLS:C0151937 hp.json Tendon rupture|Tendon/muscle rupture|Rupture of tendons|Ruptured tendon http://purl.obolibrary.org/obo/HP_0100550 HP:0100551 biolink:PhenotypicFeature Neoplasm of the trachea A neoplasm of the trachea. UMLS:C0040582|MSH:D014134|SNOMEDCT_US:126703006|NCIT:C3262 hp.json Tracheal neoplasm http://purl.obolibrary.org/obo/HP_0100551 GO:0042552 biolink:BiologicalProcess myelination The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. Wikipedia:Myelin hp.json myelinogenesis http://purl.obolibrary.org/obo/GO_0042552 GO:0042551 biolink:BiologicalProcess neuron maturation A developmental process, independent of morphogenetic (shape) change, that is required for a neuron to attain its fully functional state. hp.json http://purl.obolibrary.org/obo/GO_0042551 UBERON:0006497 biolink:AnatomicalEntity interosseous muscle of pes Any of the interosseous muscles of the pes (foot). Includes the plantar and dorsal interossei. NCIT:C53172|FMA:37456|MA:0002302|EMAPA:36262|UMLS:C0448494 hp.json pes interosseous muscle|interosseous of foot|foot interosseous|interosseous muscle of foot|foot interosseus muscle http://purl.obolibrary.org/obo/UBERON_0006497 HP:0100558 biolink:PhenotypicFeature Hemiatrophy of upper limb Unilateral atrophy (reduction in size) of an arm. SNOMEDCT_US:253921005|UMLS:C0431814 hp.json Asymmetric upper limb shortening|Hemihypotrophy of upper limb http://purl.obolibrary.org/obo/HP_0100558 HP:0100559 biolink:PhenotypicFeature Lower limb asymmetry A difference in length or diameter between the left and right leg. SNOMEDCT_US:45939007|UMLS:C0023221|MSH:D007870 hp.json Left and right leg differ in length or width|Leg length discrepancy http://purl.obolibrary.org/obo/HP_0100559 HP:0100568 biolink:PhenotypicFeature Neoplasm of the endocrine system A tumor (abnormal growth of tissue) of the endocrine system. SNOMEDCT_US:387922007|UMLS:C0014132|NCIT:C3262|MSH:D004701|SNOMEDCT_US:387927001 hp.json Endocrine neoplasia http://purl.obolibrary.org/obo/HP_0100568 HP:0100565 biolink:PhenotypicFeature Hydromyelia Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo. SNOMEDCT_US:11197005|SNOMEDCT_US:74740003|UMLS:C0152444 hp.json http://purl.obolibrary.org/obo/HP_0100565 HP:0100566 biolink:PhenotypicFeature Amyelia Congenital absence of the spinal cord. UMLS:C0266510|SNOMEDCT_US:78784005 hp.json Absent spinal cord http://purl.obolibrary.org/obo/HP_0100566 HP:0100563 biolink:PhenotypicFeature Diastomatomyelia Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum. UMLS:C4022023 hp.json http://purl.obolibrary.org/obo/HP_0100563 HP:0100564 biolink:PhenotypicFeature Triplomyelia Triplication of the spinal cord - extremely rare. UMLS:C4022022 hp.json Triplication of spinal cord http://purl.obolibrary.org/obo/HP_0100564 HP:0100561 biolink:PhenotypicFeature Spinal cord lesion UMLS:C0241224 hp.json http://purl.obolibrary.org/obo/HP_0100561 HP:0100562 biolink:PhenotypicFeature Diplomyelia Duplication of the spinal cord. SNOMEDCT_US:360527003|UMLS:C1260890 hp.json Duplication of spinal cord http://purl.obolibrary.org/obo/HP_0100562 HP:0100560 biolink:PhenotypicFeature Upper limb asymmetry Difference in length or size between the right and left arm. UMLS:C4022024 hp.json Unequal size of arms http://purl.obolibrary.org/obo/HP_0100560 hposlim_core GO:0042562 biolink:MolecularActivity hormone binding Binding to an hormone, a naturally occurring substance secreted by specialized cells that affect the metabolism or behavior of cells possessing functional receptors for the hormone. Hormones may be produced by the same, or different, cell as express the receptor. hp.json http://purl.obolibrary.org/obo/GO_0042562 goslim_chembl|goslim_pir HP:0100569 biolink:PhenotypicFeature Abnormally ossified vertebrae An abnormality of the formation and mineralization of one or more vertebrae. UMLS:C4020966 hp.json Abnormality of ossification/mineralisation of vertebrae|Abnormal bone maturation of vertebra|Abnormal vertebral ossification http://purl.obolibrary.org/obo/HP_0100569 HP:0100578 biolink:PhenotypicFeature Lipoatrophy Localized loss of fat tissue. UMLS:C1280433|MEDDRA:10024604|SNOMEDCT_US:248315005 hp.json Loss of fat tissue in localised area|Atrophy of fat|Loss of fat tissue in localized area http://purl.obolibrary.org/obo/HP_0100578 hposlim_core HP:0100579 biolink:PhenotypicFeature Mucosal telangiectasiae Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. UMLS:C4022020 hp.json http://purl.obolibrary.org/obo/HP_0100579 HP:0100576 biolink:PhenotypicFeature Amaurosis fugax A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. SNOMEDCT_US:88032003|MSH:D020757|UMLS:C0149793 hp.json http://purl.obolibrary.org/obo/HP_0100576 hposlim_core HP:0100577 biolink:PhenotypicFeature Urinary bladder inflammation Inflammation of the urinary bladder. SNOMEDCT_US:38822007|UMLS:C0010692|MSH:D003556 hp.json Urinary bladder inflammation|Cystitis of the urinary bladder http://purl.obolibrary.org/obo/HP_0100577 HP:0100574 biolink:PhenotypicFeature Biliary tract neoplasm A tumor (abnormal growth of tissue) of the biliary system. NCIT:C3262|SNOMEDCT_US:126853008|UMLS:C4020709|MSH:D001661|UMLS:C0005426 hp.json Neoplasia of the biliary tract http://purl.obolibrary.org/obo/HP_0100574 HP:0100575 biolink:PhenotypicFeature Neoplasm of the gallbladder The presence of a neoplasm of the gallbladder. SNOMEDCT_US:126854002|NCIT:C3262|MSH:D005706|UMLS:C4020708|UMLS:C0016978 hp.json Neoplasia of the gallbladder http://purl.obolibrary.org/obo/HP_0100575 HP:0100572 biolink:PhenotypicFeature Fibrous cardiac diverticulum A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly. UMLS:C4020964 hp.json Congenital ventricular aneurysm http://purl.obolibrary.org/obo/HP_0100572 HP:0100573 biolink:PhenotypicFeature Muscular cardiac diverticulum UMLS:C4022021 hp.json http://purl.obolibrary.org/obo/HP_0100573 HP:0100570 biolink:PhenotypicFeature Carcinoid tumor A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. SNOMEDCT_US:443492008|SNOMEDCT_US:189607006|UMLS:C0007095|MSH:D002276 hp.json Carcinoid tumors|Carcinoid|Carcinoid tumours|Carcinoid tumour http://purl.obolibrary.org/obo/HP_0100570 HP:0100571 biolink:PhenotypicFeature Cardiac diverticulum A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. UMLS:C4020965 hp.json Ventricular diverticulum http://purl.obolibrary.org/obo/HP_0100571 GO:0042571 biolink:CellularComponent immunoglobulin complex, circulating An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. Wikipedia:Antibody hp.json antibody http://purl.obolibrary.org/obo/GO_0042571 GO:0042578 biolink:MolecularActivity phosphoric ester hydrolase activity Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. hp.json http://purl.obolibrary.org/obo/GO_0042578 HP:0100589 biolink:PhenotypicFeature Urogenital fistula The presence of a fistula affecting the genitourinary system. UMLS:C0853877 hp.json http://purl.obolibrary.org/obo/HP_0100589 HP:0100587 biolink:PhenotypicFeature Abnormal preputium morphology An abnormality of the retractable fold of skin that covers the tip of the penis. UMLS:C4022016 hp.json Abnormality of the preputium http://purl.obolibrary.org/obo/HP_0100587 HP:0100588 biolink:PhenotypicFeature Paraphimosis The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis. UMLS:C0030483|SNOMEDCT_US:13758004|MSH:D010263 hp.json http://purl.obolibrary.org/obo/HP_0100588 HP:0100585 biolink:PhenotypicFeature Telangiectasia of the skin Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. UMLS:C4022018 hp.json Teleangiectasia of the skin http://purl.obolibrary.org/obo/HP_0100585 HP:0100586 biolink:PhenotypicFeature Sterile pyuria Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria. UMLS:C4022017 hp.json Aseptic leukocyturia http://purl.obolibrary.org/obo/HP_0100586 HP:0100583 biolink:PhenotypicFeature Corneal perforation A rupture of the cornea through which a portion of the iris protrudes. UMLS:C0948060|SNOMEDCT_US:74895004|MSH:D057112|UMLS:C0339293 hp.json Iridocele http://purl.obolibrary.org/obo/HP_0100583 HP:0100584 biolink:PhenotypicFeature Endocarditis An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. SNOMEDCT_US:56819008|UMLS:C0014118|MSH:D004696 hp.json http://purl.obolibrary.org/obo/HP_0100584 HP:0100581 biolink:PhenotypicFeature Dilatation of renal calices An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. UMLS:C4022019 hp.json Caliectasis|Caliceal dilatation|Megacalicosis http://purl.obolibrary.org/obo/HP_0100581 HP:0100582 biolink:PhenotypicFeature Nasal polyposis Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. MSH:D009298|UMLS:C0027430|SNOMEDCT_US:52756005 hp.json Polyposis nasi|Polyps of nose|Nasal polyps http://purl.obolibrary.org/obo/HP_0100582 HP:0100580 biolink:PhenotypicFeature Barrett esophagus An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. MSH:D001471|SNOMEDCT_US:302914006|UMLS:C0004763 hp.json Endobrachyesophagus|Barrett's esophagus|Barrett's oesophagus|Barret syndrome|Barrett oesophagus http://purl.obolibrary.org/obo/HP_0100580 GO:0042582 biolink:CellularComponent azurophil granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. hp.json primary granule http://purl.obolibrary.org/obo/GO_0042582 RO:0002503 biolink:NamedThing towards q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 RO:0002503 hp.json http://purl.obolibrary.org/obo/RO_0002503 RO:0002506 biolink:NamedThing causal relation between entities hp.json http://purl.obolibrary.org/obo/RO_0002506 RO:0002500 biolink:NamedThing causal agent in process A relationship between a material entity and a process where the material entity has some causal role that influences the process hp.json http://purl.obolibrary.org/obo/RO_0002500 RO:0002501 biolink:NamedThing causal relation between processes p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q. hp.json http://purl.obolibrary.org/obo/RO_0002501 RO:0002502 biolink:NamedThing depends on hp.json http://purl.obolibrary.org/obo/RO_0002502 HP:0100598 biolink:PhenotypicFeature Pulmonary edema Fluid accumulation in the lungs. UMLS:C0034063|SNOMEDCT_US:19242006|MSH:D011654 hp.json Lung oedema|Pulmonary oedema|Wet lung|Excess fluid in lungs|Lung edema http://purl.obolibrary.org/obo/HP_0100598 HP:0100599 biolink:PhenotypicFeature Bifid penis Two penile structures, separated from the tip to the base of the shaft. UMLS:C0345322|SNOMEDCT_US:253851000 hp.json Penile duplication|Diphallia http://purl.obolibrary.org/obo/HP_0100599 HP:0100596 biolink:PhenotypicFeature Absent nares The nostrils (the paired channels of the nose) are not present. UMLS:C4020963|UMLS:C4020707 hp.json Aplasia/Hypoplasia of the nares|Abouphalia|Missing nostrils|Aplasia of the nares http://purl.obolibrary.org/obo/HP_0100596 HP:0100594 biolink:PhenotypicFeature Esophageal web Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare). UMLS:C0267080|SNOMEDCT_US:19216006|SNOMEDCT_US:22395006 hp.json http://purl.obolibrary.org/obo/HP_0100594 hposlim_core HP:0100595 biolink:PhenotypicFeature Camptocormia An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. UMLS:C0264162|SNOMEDCT_US:13534001|MSH:C537968 hp.json http://purl.obolibrary.org/obo/HP_0100595 hposlim_core HP:0100592 biolink:PhenotypicFeature Peritoneal abscess The presence of an abscess of the peritoneum. UMLS:C0267756|SNOMEDCT_US:73962000 hp.json http://purl.obolibrary.org/obo/HP_0100592 HP:0100593 biolink:PhenotypicFeature Calcification of cartilage UMLS:C4022015 hp.json http://purl.obolibrary.org/obo/HP_0100593 HP:0100590 biolink:PhenotypicFeature Rectal fistula The presence of a fistula affecting the rectum. MSH:D012003|SNOMEDCT_US:80736008|UMLS:C0034884 hp.json http://purl.obolibrary.org/obo/HP_0100590 GO:0042592 biolink:BiologicalProcess homeostatic process Any biological process involved in the maintenance of an internal steady state. hp.json positive regulation of homeostatic process|homeostasis|negative regulation of homeostatic process|inhibition of homeostatic process|regulation of homeostatic process|activation of homeostatic process http://purl.obolibrary.org/obo/GO_0042592 goslim_agr|goslim_chembl|goslim_mouse GO:0042593 biolink:BiologicalProcess glucose homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0042593 UBERON:0018542 biolink:AnatomicalEntity mandibular symphyseal region The region of the mandible on or near the midline (near the mandiblular symphysis). MFMO:0000147 hp.json symphyseal region http://purl.obolibrary.org/obo/UBERON_0018542 UBERON:0018543 biolink:AnatomicalEntity lumen of intestine The anatomical space within the intestine. FMA:14586|WBbt:0005791|ZFA:0005807|TADS:0000495 hp.json gut lumen|intestinal lumen|intestine lumen http://purl.obolibrary.org/obo/UBERON_0018543 CHEBI:57726 biolink:ChemicalSubstance D-proline zwitterion A D-alpha-amino acid zwitterion that is D-proline in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. MetaCyc:D-PROLINE hp.json (2R)-pyrrolidinium-2-carboxylate|D-proline http://purl.obolibrary.org/obo/CHEBI_57726 3_STAR UBERON:0018544 biolink:AnatomicalEntity trigeminal nerve muscle Muscle innervated by the trigeminal nerve (Cranial Nerve V). MFMO:0000072 hp.json muscle innervated by the trigeminal nerve|muscles innervated by the trigeminal nerve http://purl.obolibrary.org/obo/UBERON_0018544 HP:0002256 biolink:PhenotypicFeature Small bowel diverticula UMLS:C0267498|SNOMEDCT_US:8114009|MEDDRA:10013533 hp.json http://purl.obolibrary.org/obo/HP_0002256 hposlim_core CHEBI:70709 biolink:ChemicalSubstance progesterone receptor agonist A hormone agonist that binds to and activates progesterone receptors. hp.json progesterone receptor agonists|PR agonists|PR agonist http://purl.obolibrary.org/obo/CHEBI_70709 3_STAR HP:0002257 biolink:PhenotypicFeature Chronic rhinitis Chronic inflammation of the nasal mucosa. UMLS:C0008711|SNOMEDCT_US:86094006 hp.json http://purl.obolibrary.org/obo/HP_0002257 UBERON:0006563 biolink:AnatomicalEntity tunica media of pulmonary trunk Tunica media of artery which is continuous with the myocardium of right ventricle.[FMA]. FMA:85030 hp.json http://purl.obolibrary.org/obo/UBERON_0006563 UBERON:0006562 biolink:AnatomicalEntity pharynx The pharynx is the part of the digestive system immediately posterior to the mouth[GO]. MAT:0000049|MIAA:0000049|FBbt:00005380|MESH:D010614 hp.json pharyngeal tube|anterior part of foregut http://purl.obolibrary.org/obo/UBERON_0006562 grouping_class|uberon_slim HP:0002254 biolink:PhenotypicFeature Intermittent diarrhea Repeated episodes of diarrhea separated by periods without diarrhea. UMLS:C0239181 hp.json Episodic diarrhea|Episodic diarrhoea|Intermittent diarrhoea http://purl.obolibrary.org/obo/HP_0002254 UBERON:0006561 biolink:AnatomicalEntity non-lymphatic part of lymphoid system An organ system subdivision that is the part of the lymphoid system that excludes the lymphatic vessels.. FMA:74623 hp.json non-lymphatic lymphoid system http://purl.obolibrary.org/obo/UBERON_0006561 CHEBI:33752 biolink:ChemicalSubstance hexonic acid Any aldonic acid formed by oxidising the aldehyde group of an aldohexose to a carboxylic acid group. hp.json hexonic acid|hexonic acids|aldohexonic acids http://purl.obolibrary.org/obo/CHEBI_33752 3_STAR UBERON:0006569 biolink:AnatomicalEntity diencephalic nucleus A nucleus of brain that is part of a diencephalon. TAO:0002191|ZFA:0001659 hp.json http://purl.obolibrary.org/obo/UBERON_0006569 UBERON:0006568 biolink:AnatomicalEntity hypothalamic nucleus A nucleus of brain that is part of a hypothalamus. MA:0002426|FMA:258762|BTO:0002449|EMAPA:35417 hp.json nucleus of hypothalamus http://purl.obolibrary.org/obo/UBERON_0006568 HP:0002253 biolink:PhenotypicFeature Colonic diverticula The presence of multiple diverticula of the colon. MSH:D004241|UMLS:C0012819|SNOMEDCT_US:398050005|MSH:D043963|UMLS:C0012811|MEDDRA:10009993 hp.json Colon diverticula|Colonic diverticulosis http://purl.obolibrary.org/obo/HP_0002253 hposlim_core UBERON:0006567 biolink:AnatomicalEntity right ventricle myocardium A myocardium that is part of a right ventricle of a heart. FMA:9535|MA:0002984|EMAPA:17342|SCTID:362020004 hp.json myocardium of right ventricle|right ventricular myocardium http://purl.obolibrary.org/obo/UBERON_0006567 pheno_slim|human_reference_atlas UBERON:0006566 biolink:AnatomicalEntity left ventricle myocardium A myocardium that is part of a left ventricle of a heart. FMA:9558|MA:0002983|SCTID:362021000|EMAPA:17339 hp.json myocardium of left ventricle|left ventricular myocardium http://purl.obolibrary.org/obo/UBERON_0006566 human_reference_atlas HP:0002250 biolink:PhenotypicFeature Abnormal large intestine morphology Any abnormality of the large intestine. UMLS:C4025715 hp.json Abnormality of the large intestine http://purl.obolibrary.org/obo/HP_0002250 RO:0002608 biolink:NamedThing process has causal agent Inverse of 'causal agent in process' RO:0002608 hp.json http://purl.obolibrary.org/obo/RO_0002608 UBERON:0006565 biolink:AnatomicalEntity female urethral meatus A urethral meatus that is part of a female urethra[Automatically generated definition]. EMAPA:36453|FMA:85266|MA:0002639 hp.json external urethral orifice (female)|urethral meatus of clitoral urethra|female urethral meatus|urethral opening of clitoral urethra|distal urethral opening of female|ostium urethrae externum (urethra feminina)|external orifice of female urethra http://purl.obolibrary.org/obo/UBERON_0006565 HP:0002251 biolink:PhenotypicFeature Aganglionic megacolon An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. SNOMEDCT_US:33995003|MSH:D006627|SNOMEDCT_US:367495003|UMLS:C0025160|MEDDRA:10027110|SNOMEDCT_US:204739008|UMLS:C0019569|MSH:D008531 hp.json Hirschsprung disease|Congenital megacolon|Hirschsprung megacolon|Megacolon|Enlarged colon lacking nerve cells http://purl.obolibrary.org/obo/HP_0002251 hposlim_core UBERON:0018531 biolink:AnatomicalEntity female superficial inguinal ring A deep inguinal ring that is part of a female reproductive system. EMAPA:19174|MA:0003252 hp.json female external inguinal ring http://purl.obolibrary.org/obo/UBERON_0018531 GO:0005506 biolink:MolecularActivity iron ion binding Binding to an iron (Fe) ion. hp.json iron binding http://purl.obolibrary.org/obo/GO_0005506 UBERON:0018532 biolink:AnatomicalEntity female deep inguinal ring A deep inguinal ring that is part of a male reproductive system. EMAPA:19173|MA:0003251 hp.json female internal inguinal ring http://purl.obolibrary.org/obo/UBERON_0018532 NBO:0000747 biolink:NamedThing jaw movement hp.json http://purl.obolibrary.org/obo/NBO_0000747 UBERON:0018530 biolink:AnatomicalEntity male inguinal ring An inguinal ring that is part of a male reproductive system. EMAPA:29307 hp.json http://purl.obolibrary.org/obo/UBERON_0018530 NBO:0000741 biolink:NamedThing aggressive behavior by means hp.json http://purl.obolibrary.org/obo/NBO_0000741 CHEBI:33767 biolink:ChemicalSubstance cobalt group molecular entity hp.json cobalt group molecular entities|cobalt group molecular entity http://purl.obolibrary.org/obo/CHEBI_33767 3_STAR HP:0002267 biolink:PhenotypicFeature Exaggerated startle response An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. SNOMEDCT_US:19557000|UMLS:C0234166|UMLS:C1836014|MSH:D000071017|UMLS:C1740801|UMLS:C1848918 hp.json Increased startle response|Hyperekplexia|Exaggerated acoustic startle response http://purl.obolibrary.org/obo/HP_0002267 UBERON:0006553 biolink:AnatomicalEntity renal duct A tube in the kidney that collect and transport urine. ZFA:0005289|TAO:0005289 hp.json http://purl.obolibrary.org/obo/UBERON_0006553 HP:0002268 biolink:PhenotypicFeature Paroxysmal dystonia A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. UMLS:C0393588|MSH:D004421|SNOMEDCT_US:230310003 hp.json Episodic dystonia http://purl.obolibrary.org/obo/HP_0002268 CHEBI:33760 biolink:ChemicalSubstance hexonate hp.json hexonate|hexonates|aldohexonates http://purl.obolibrary.org/obo/CHEBI_33760 3_STAR HP:0002265 biolink:PhenotypicFeature Large fleshy ears UMLS:C3808403 hp.json Large fleshy ears http://purl.obolibrary.org/obo/HP_0002265 HP:0002266 biolink:PhenotypicFeature Focal clonic seizure A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. MSH:D020938|UMLS:C0752323 hp.json Localized clonic seizure|Focal clonic seizures|Localised clonic seizure|Partial clonic seizure|Segmental clonic seizure http://purl.obolibrary.org/obo/HP_0002266 HP:0002269 biolink:PhenotypicFeature Abnormality of neuronal migration An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. MSH:D054081|UMLS:C1837249 hp.json Neuronal migration disorder|Heterotopias/abnormal migration|Abnormal neuronal migration|Migrational brain disorder http://purl.obolibrary.org/obo/HP_0002269 NBO:0000751 biolink:NamedThing perception behavior by means hp.json http://purl.obolibrary.org/obo/NBO_0000751 UBERON:0006558 biolink:AnatomicalEntity lymphatic part of lymphoid system An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. VHOG:0001761|EMAPA:18248|CALOHA:TS-2024|MA:0002961|AAO:0010522|MESH:D008208|FMA:7162|EFO:0000870 hp.json lymphatic tree system|lymphatic system|lymporeticular system http://purl.obolibrary.org/obo/UBERON_0006558 pheno_slim|efo_slim HP:0002263 biolink:PhenotypicFeature Exaggerated cupid's bow More pronounced paramedian peaks and median notch of the Cupid's bow. UMLS:C1850629 hp.json Prominent cupid-bow of upper lip|Exaggerated cupid's bow|Cupid bow upper lip|Cupid's bow, accentuated|Cupid-bow shaped upper lip http://purl.obolibrary.org/obo/HP_0002263 hposlim_core CHEBI:18101 biolink:ChemicalSubstance 4-hydroxyphenylacetic acid A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens is substituted by a 4-hydroxyphenyl group. CAS:156-38-7|CAS:156-38-7|PMID:7126379|PMID:21476434|Wikipedia:4-hydroxyphenylacetic_acid|MetaCyc:4-HYDROXYPHENYLACETATE|PDBeChem:4HP|Reaxys:1448766|PMID:22296160|PMID:24831010|PMID:24636068|PMID:977696|HMDB:HMDB0000020|PMID:11339992|CAS:156-38-7|KEGG:C00642|UM-BBD_compID:c0271 hp.json 4-carboxymethylphenol|4-Hydroxyphenylacetic acid|4-hydroxybenzeneacetic acid|(4-hydroxyphenyl)acetic acid|p-hydroxyphenylacetic acid|(p-hydroxyphenyl)acetic acid|4-Hydroxyphenylacetate http://purl.obolibrary.org/obo/CHEBI_18101 3_STAR UBERON:0006555 biolink:AnatomicalEntity excretory tube A tube that is part of a excretory system. hp.json http://purl.obolibrary.org/obo/UBERON_0006555 CHEBI:18140 biolink:ChemicalSubstance hydrogen halide hp.json HX|hydrogen halides|hydrogen halides|hydrogen halide http://purl.obolibrary.org/obo/CHEBI_18140 3_STAR UBERON:0018529 biolink:AnatomicalEntity female inguinal ring An inguinal ring that is part of a female reproductive system. MA:0003250|EMAPA:19172 hp.json http://purl.obolibrary.org/obo/UBERON_0018529 HP:0002234 biolink:PhenotypicFeature Early balding Loss of scalp hair at an earlier than normal age. UMLS:C4025718 hp.json Early balding http://purl.obolibrary.org/obo/HP_0002234 HP:0004897 biolink:PhenotypicFeature Stress/infection-induced lactic acidosis A form of lactic acidemia that occurs in relation to stress or infection. UMLS:C4025278 hp.json Metabolic crises during febrile infections http://purl.obolibrary.org/obo/HP_0004897 HP:0002235 biolink:PhenotypicFeature Pili canaliculi Uncombable hair. UMLS:C1860608 hp.json http://purl.obolibrary.org/obo/HP_0002235 HP:0002232 biolink:PhenotypicFeature Patchy alopecia Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. SNOMEDCT_US:68225006|UMLS:C1862862|MSH:D000506|MSH:C531609|UMLS:C0002171 hp.json Alopecia areata|Patchy baldness http://purl.obolibrary.org/obo/HP_0002232 HP:0004894 biolink:PhenotypicFeature Laryngotracheal stenosis UMLS:C3806280 hp.json http://purl.obolibrary.org/obo/HP_0004894 HP:0002239 biolink:PhenotypicFeature Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract. UMLS:C0017181|SNOMEDCT_US:74474003|MSH:D006471 hp.json Gastrointestinal bleeding|GI hemorrhage|GI haemorrhage|Gastrointestinal haemorrhage http://purl.obolibrary.org/obo/HP_0002239 HP:0002236 biolink:PhenotypicFeature Frontal upsweep of hair Upward and/or sideward growth of anterior hair. UMLS:C2675540|UMLS:C1185616|UMLS:C3275754 hp.json Frontal Cowlick|Upswept frontal hair|Frontal upsweep of hair|Cowlick|Upswept frontal hairline|Upswept frontal hair pattern http://purl.obolibrary.org/obo/HP_0002236 hposlim_core CHEBI:18139 biolink:ChemicalSubstance trimethylamine A tertiary amine that is ammonia in which each hydrogen atom is substituted by an methyl group. Reaxys:956566|Wikipedia:Trimethylamine|PMID:17190852|MetaCyc:TRIMETHYLAMINE|PMID:24591617|CAS:75-50-3|CAS:75-50-3|PMID:2501587|HMDB:HMDB0000906|KNApSAcK:C00001433|PMID:1801314|PMID:15752091|PMID:14047118|PMID:15304308|Gmelin:1309|KEGG:C00565|PMID:5161463|Beilstein:956566|CAS:75-50-3|PDBeChem:KEN hp.json N,N,N-trimethylamine|(CH3)3N|Trimethylamine|N,N-Dimethylmethanamine|TMA|N(CH3)3|tridimethylaminomethane|NMe3|N,N-dimethylmethanamine|Trimethylamin http://purl.obolibrary.org/obo/CHEBI_18139 3_STAR HP:0004898 biolink:PhenotypicFeature Persistent lactic acidosis A continuous form of lactic acidemia. UMLS:C3554538 hp.json http://purl.obolibrary.org/obo/HP_0004898 CHEBI:18133 biolink:ChemicalSubstance hexose Any six-carbon monosaccharide which in its linear form contains either an aldehyde group at position 1 (aldohexose) or a ketone group at position 2 (ketohexose). GlyTouCan:G70994MS|KEGG:C00738|GlyGen:G70994MS hp.json Hexose|WURCS=2.0/1,1,0/[axxxxh-1x_1-5_2*NCC/3=O]/1/|hexoses http://purl.obolibrary.org/obo/CHEBI_18133 3_STAR HP:0002230 biolink:PhenotypicFeature Generalized hirsutism Abnormally increased hair growth over much of the entire body. UMLS:C1849211 hp.json Generalised hirsutism|Excessive hairiness over body http://purl.obolibrary.org/obo/HP_0002230 HP:0002231 biolink:PhenotypicFeature Sparse body hair Sparseness of the body hair. UMLS:C1862863 hp.json Limited body hair|Sparse body hair|Little body hair|Sparse to absent body hair http://purl.obolibrary.org/obo/HP_0002231 hposlim_core HP:0004891 biolink:PhenotypicFeature Recurrent infections due to aspiration Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration. UMLS:C3806285 hp.json http://purl.obolibrary.org/obo/HP_0004891 UBERON:0006544 biolink:AnatomicalEntity kidney vasculature A vasculature that is part of a kidney. EMAPA:28457|ZFA:0005305|TAO:0005305 hp.json http://purl.obolibrary.org/obo/UBERON_0006544 vertebrate_core|human_reference_atlas HP:0004890 biolink:PhenotypicFeature Elevated pulmonary artery pressure An abnormally elevated blood pressure in the circulation of the pulmonary artery. UMLS:C3805917 hp.json Elevated lung artery pressure|increased pulmonary artery pressure http://purl.obolibrary.org/obo/HP_0004890 CHEBI:21760 biolink:ChemicalSubstance N-methyl-amino acid An amino acid derivative in which at least one of the hydrogens of the amino group has been replaced by a methyl group. hp.json N-methyl-amino acids http://purl.obolibrary.org/obo/CHEBI_21760 3_STAR HP:0002245 biolink:PhenotypicFeature Meckel diverticulum Meckel's diverticulum is a congenital diverticulum located in the distal ileum. MSH:D008467|UMLS:C0025037|SNOMEDCT_US:37373007|MEDDRA:10027055|SNOMEDCT_US:127962001 hp.json http://purl.obolibrary.org/obo/HP_0002245 UBERON:0006531 biolink:AnatomicalEntity oculomotor muscle The muscles that move the eye. Included in this group are the medial rectus, lateral rectus, superior rectus, inferior rectus, inferior oblique, superior oblique, musculus orbitalis, and levator palpebrae superioris. UMLS:C0028863|MA:0002432|NCIT:C33199|MESH:D009801|CALOHA:TS-0305 hp.json http://purl.obolibrary.org/obo/UBERON_0006531 UBERON:0006530 biolink:AnatomicalEntity seminal fluid A substance formed from the secretion of one or more glands of the male genital tract in which sperm cells are suspended. BTO:0001232|EMAPA:36543|CALOHA:TS-0918|MA:0002523|FMA:62967|MAT:0000057|MIAA:0000057 hp.json seminal fluid|male genital fluid|male genital secretion|seminal plasma http://purl.obolibrary.org/obo/UBERON_0006530 HP:0002246 biolink:PhenotypicFeature Abnormal duodenum morphology An abnormality of the duodenum, i.e., the first section of the small intestine. UMLS:C4025716 hp.json Abnormality of the duodenum http://purl.obolibrary.org/obo/HP_0002246 hposlim_core HP:0002243 biolink:PhenotypicFeature Protein-losing enteropathy Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. SNOMEDCT_US:66972006|UMLS:C0033680|MSH:D011504|SNOMEDCT_US:22542007 hp.json http://purl.obolibrary.org/obo/HP_0002243 HP:0002244 biolink:PhenotypicFeature Abnormality of the small intestine An abnormality of the small intestine. UMLS:C4025717 hp.json http://purl.obolibrary.org/obo/HP_0002244 HP:0002249 biolink:PhenotypicFeature Melena The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. SNOMEDCT_US:249627005|UMLS:C0474585|UMLS:C0025222|SNOMEDCT_US:2901004|MSH:D008551|SNOMEDCT_US:267055007|SNOMEDCT_US:269899009|SNOMEDCT_US:35064005 hp.json Black faeces|Black feces http://purl.obolibrary.org/obo/HP_0002249 UBERON:0018508 biolink:AnatomicalEntity foramen of nasal bone A vascular foramen opening on the outer surface of a nasal bone. FMA:57653 hp.json foramen of nasal bone|nasal foramen|nasal foramina|foramina nasalia http://purl.obolibrary.org/obo/UBERON_0018508 HP:0002247 biolink:PhenotypicFeature Duodenal atresia A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Fyler:4406|MSH:C535720|MEDDRA:10013812|UMLS:C0266174|SNOMEDCT_US:51118003 hp.json Absence or narrowing of first part of small bowel http://purl.obolibrary.org/obo/HP_0002247 hposlim_core CHEBI:33744 biolink:ChemicalSubstance iron group molecular entity hp.json iron group molecular entity|iron group molecular entities http://purl.obolibrary.org/obo/CHEBI_33744 3_STAR HP:0002248 biolink:PhenotypicFeature Hematemesis The vomiting of blood. MSH:D006396|SNOMEDCT_US:8765009|UMLS:C0018926 hp.json Vomitting blood http://purl.obolibrary.org/obo/HP_0002248 UBERON:0006539 biolink:AnatomicalEntity mammary gland fluid/secretion A substance that is secreted by a mammary gland. The substance may differ depending on phase, with colostrum produced during pregancy/early lactation, and milk produced afterwards. EMAPA:36538|MA:0002505 hp.json lactiferous gland fluid|lactiferous gland secretion|secretion of mammary gland|mammary gland secreted fluid|mammary gland fluid|mammary gland secretion http://purl.obolibrary.org/obo/UBERON_0006539 UBERON:0006538 biolink:AnatomicalEntity respiratory system fluid/secretion A portion of organism substance that secreted_by a respiratory system. UMLS:C1514899|MA:0002533|EMAPA:36550|NCIT:C13722 hp.json respiratory system secretion|respiratory system fluid http://purl.obolibrary.org/obo/UBERON_0006538 CHEBI:21766 biolink:ChemicalSubstance N-methylglycines An N-alkylglycine that is sarcosine and derivatives of sarcosine arising by replacement of the hydrogen attached to the nitrogen by a hydrocarbyl group. hp.json http://purl.obolibrary.org/obo/CHEBI_21766 3_STAR UBERON:0006537 biolink:AnatomicalEntity female reproductive gland secretion A portion of organism substance that is secreted by a female reproductive gland. MA:0002510 hp.json female reproductive system fluid/secretion|female reproductive system fluid|female reproductive system secretion http://purl.obolibrary.org/obo/UBERON_0006537 UBERON:0006536 biolink:AnatomicalEntity male reproductive gland secretion A portion of organism substance that is secreted by a male reproductive gland. EMAPA:36541|MA:0002521 hp.json male reproductive system fluid|male reproductive system secretion|male reproductive system fluid/secretion http://purl.obolibrary.org/obo/UBERON_0006536 UBERON:0006535 biolink:AnatomicalEntity skin secretion A portion of organism substance that secreted_by a zone of skin. MA:0002537 hp.json skin fluid|skin fluid/secretion|skin substance http://purl.obolibrary.org/obo/UBERON_0006535 HP:0002242 biolink:PhenotypicFeature Abnormal intestine morphology An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. MSH:D007410|UMLS:C0021831|SNOMEDCT_US:85919009 hp.json Abnormality of the intestine|Enteropathy http://purl.obolibrary.org/obo/HP_0002242 UBERON:0006533 biolink:AnatomicalEntity rectus extraocular muscle MA:0001278|FMA:312408 hp.json http://purl.obolibrary.org/obo/UBERON_0006533 pheno_slim HP:0002240 biolink:PhenotypicFeature Hepatomegaly Abnormally increased size of the liver. MSH:D006529|SNOMEDCT_US:80515008|UMLS:C0019209 hp.json Enlarged liver http://purl.obolibrary.org/obo/HP_0002240 UBERON:0006532 biolink:AnatomicalEntity oblique extraocular muscle FMA:312383|MA:0001275 hp.json http://purl.obolibrary.org/obo/UBERON_0006532 HP:0100600 biolink:PhenotypicFeature Penoscrotal transposition A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. UMLS:C1868854|MSH:C536650|SNOMEDCT_US:312005008 hp.json Prepenile scrotum http://purl.obolibrary.org/obo/HP_0100600 HP:0100601 biolink:PhenotypicFeature Eclampsia An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. MSH:D004461|SNOMEDCT_US:15938005|UMLS:C0013537 hp.json http://purl.obolibrary.org/obo/HP_0100601 UBERON:0018584 biolink:AnatomicalEntity secondary canine tooth FMA:84203 hp.json permanent canine tooth http://purl.obolibrary.org/obo/UBERON_0018584 UBERON:0018583 biolink:AnatomicalEntity primary canine tooth FMA:84202 hp.json primary tooth C|temporary canine tooth|deciduous canine tooth http://purl.obolibrary.org/obo/UBERON_0018583 UBERON:0018588 biolink:AnatomicalEntity upper first primary molar tooth FMA:84211 hp.json upper primary tooth D|upper first deciduous molar tooth http://purl.obolibrary.org/obo/UBERON_0018588 CHEBI:33719 biolink:ChemicalSubstance alpha-amino-acid cation hp.json alpha-amino-acid cations|alpha-amino-acid cation|alpha-amino acid cations http://purl.obolibrary.org/obo/CHEBI_33719 3_STAR UBERON:0018589 biolink:AnatomicalEntity lower first primary molar tooth FMA:84212 hp.json lower primary tooth D|lower first deciduous molar tooth|lower primary molar 1 http://purl.obolibrary.org/obo/UBERON_0018589 HP:0002298 biolink:PhenotypicFeature Absent hair SNOMEDCT_US:297991008|UMLS:C0574763 hp.json Absent hair http://purl.obolibrary.org/obo/HP_0002298 HP:0002299 biolink:PhenotypicFeature Brittle hair Fragile, easily breakable hair, i.e., with reduced tensile strength. UMLS:C1851868|UMLS:C4072837|SNOMEDCT_US:25159003|UMLS:C0263490|UMLS:C1970705 hp.json Fragile hair|Reduced tensile strength of hair|Fractured hair|Easily breakable hair|Brittle hair http://purl.obolibrary.org/obo/HP_0002299 CHEBI:33710 biolink:ChemicalSubstance alpha-amino-acid residue hp.json alpha-amino-acid residues http://purl.obolibrary.org/obo/CHEBI_33710 3_STAR HP:0100608 biolink:PhenotypicFeature Metrorrhagia Bleeding at irregular intervals. UMLS:C0025874|SNOMEDCT_US:237130006|MSH:D008796|SNOMEDCT_US:64996003|SNOMEDCT_US:19155002 hp.json Abnormal uterus bleeding|Intermenstrual bleeding|Menstrual spotting http://purl.obolibrary.org/obo/HP_0100608 HP:0002292 biolink:PhenotypicFeature Frontal balding Absence of hair in the anterior midline and/or parietal areas. SNOMEDCT_US:87872006|MSH:D000505|UMLS:C4083212|UMLS:C1864584 hp.json Male pattern baldness|Frontal balding http://purl.obolibrary.org/obo/HP_0002292 hposlim_core HP:0002293 biolink:PhenotypicFeature Alopecia of scalp SNOMEDCT_US:298000004|UMLS:C1850535|MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:56317004|UMLS:C0574769|UMLS:C0002170 hp.json Absence of scalp hair|Scalp hair loss|Baldness|Missing scalp hair|Pathologic hair loss from scalp http://purl.obolibrary.org/obo/HP_0002293 HP:0100609 biolink:PhenotypicFeature obsolete Hypermenorrhea hp.json http://purl.obolibrary.org/obo/HP_0100609 HP:0100606 biolink:PhenotypicFeature Neoplasm of the respiratory system A tumor (abnormal growth of tissue) of the respiratory system. SNOMEDCT_US:126667002|MSH:D012142|UMLS:C0035244|SNOMEDCT_US:448708002|NCIT:C3262 hp.json Respiratory system tumor|Respiratory system tumour http://purl.obolibrary.org/obo/HP_0100606 HP:0002290 biolink:PhenotypicFeature Poliosis Circumscribed depigmentation of the hair of the head or the eyelashes. SNOMEDCT_US:14240001|UMLS:C0221262 hp.json White patch|Patch of white hair http://purl.obolibrary.org/obo/HP_0002290 HP:0100607 biolink:PhenotypicFeature Dysmenorrhea Pain during menstruation that interferes with daily activities. MSH:D004412|SNOMEDCT_US:289900009|SNOMEDCT_US:266599000|SNOMEDCT_US:431416001|UMLS:C0013390 hp.json Painful menstruation http://purl.obolibrary.org/obo/HP_0100607 HP:0100604 biolink:PhenotypicFeature Neoplasm of the lip A tumor (abnormal growth of tissue) of the lip. UMLS:C4020706|UMLS:C0023761|MSH:D008048|SNOMEDCT_US:126770008|NCIT:C3262 hp.json Tumor of the lip|Lip tumour|Lip tumor|Neoplasia of the lip|Tumour of the lip http://purl.obolibrary.org/obo/HP_0100604 HP:0002296 biolink:PhenotypicFeature Progressive hypotrichosis Progressively reduced or lacking hair growth. UMLS:C1857048 hp.json http://purl.obolibrary.org/obo/HP_0002296 HP:0100605 biolink:PhenotypicFeature Neoplasm of the larynx MSH:D007822|UMLS:C0023055|NCIT:C3262|SNOMEDCT_US:126692004 hp.json http://purl.obolibrary.org/obo/HP_0100605 HP:0002297 biolink:PhenotypicFeature Red hair UMLS:C0239803|SNOMEDCT_US:297997007 hp.json Red hair color|Red hair colour|Ginger hair color|Red hair|Ginger hair colour|Red head (hair color) http://purl.obolibrary.org/obo/HP_0002297 HP:0100602 biolink:PhenotypicFeature Preeclampsia Pregnancy-induced hypertension in association with significant amounts of protein in the urine. UMLS:C0032914|SNOMEDCT_US:398254007|MSH:D011225|SNOMEDCT_US:15394000 hp.json Pre-eclampsia http://purl.obolibrary.org/obo/HP_0100602 HP:0100603 biolink:PhenotypicFeature Toxemia of pregnancy Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. SNOMEDCT_US:15394000|UMLS:C0032914|SNOMEDCT_US:398254007|MSH:D011225 hp.json Hypertensive disorder of pregnancy|Toxaemia of pregnancy http://purl.obolibrary.org/obo/HP_0100603 UBERON:0018575 biolink:AnatomicalEntity upper first secondary molar tooth FMA:55811 hp.json upper first permanent molar tooth|maxillary first secondary molar tooth http://purl.obolibrary.org/obo/UBERON_0018575 HP:0100611 biolink:PhenotypicFeature Multiple glomerular cysts The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. UMLS:C4022013|UMLS:C4020705 hp.json Glomerulocystic kidney disease http://purl.obolibrary.org/obo/HP_0100611 HP:0100612 biolink:PhenotypicFeature Odontogenic neoplasm Neoplasm involving odontogenic cells, an odontogenic tumor. SNOMEDCT_US:3833004|NCIT:C3286|SNOMEDCT_US:127578009|MSH:D009808|UMLS:C0028880 hp.json Odontogenic tumor|Odontogenic tumour http://purl.obolibrary.org/obo/HP_0100612 hposlim_core UBERON:0018576 biolink:AnatomicalEntity upper second secondary molar tooth FMA:55812 hp.json upper second permanent tooth|maxillary second secondary molar tooth http://purl.obolibrary.org/obo/UBERON_0018576 HP:0100610 biolink:PhenotypicFeature Maternal hyperphenylalaninemia A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. UMLS:C4022014 hp.json High blood phenylalanine level in mother http://purl.obolibrary.org/obo/HP_0100610 UBERON:0018570 biolink:AnatomicalEntity lower lateral secondary incisor tooth A lower jaw incisor that is in_the_lateral_side_of a dentition. FMA:55725 hp.json lower lateral permanent incisor tooth|mandibular lateral secondary incisor tooth|mandibular lateral permanent incisor http://purl.obolibrary.org/obo/UBERON_0018570 pheno_slim UBERON:0018579 biolink:AnatomicalEntity lower second secondary molar tooth FMA:55815 hp.json lower second permanent molar tooth|mandibular second secondary molar tooth|lower secondary molar 2 http://purl.obolibrary.org/obo/UBERON_0018579 CHEBI:33729 biolink:ChemicalSubstance tetritol hp.json tetritol|tetritols http://purl.obolibrary.org/obo/CHEBI_33729 3_STAR UBERON:0018578 biolink:AnatomicalEntity lower first secondary molar tooth FMA:55814 hp.json lower first permanent molar tooth|mandibular first secondary molar tooth http://purl.obolibrary.org/obo/UBERON_0018578 UBERON:0006596 biolink:AnatomicalEntity presumptive blood ZFA:0000568|TAO:0000568|AAO:0000468|EFO:0003439 hp.json future blood http://purl.obolibrary.org/obo/UBERON_0006596 efo_slim UBERON:0006595 biolink:AnatomicalEntity presumptive endoderm Presumptive structure of the blastula that will develop into endoderm. EFO:0003437|ZFA:0000416|AAO:0000471|TAO:0000416 hp.json http://purl.obolibrary.org/obo/UBERON_0006595 efo_slim CHEBI:33720 biolink:ChemicalSubstance carbohydrate acid hp.json carbohydrate acid|carbohydrate acids http://purl.obolibrary.org/obo/CHEBI_33720 3_STAR CHEBI:33721 biolink:ChemicalSubstance carbohydrate acid anion hp.json carbohydrate acid anions|carbohydrate acid anion http://purl.obolibrary.org/obo/CHEBI_33721 3_STAR HP:0100619 biolink:PhenotypicFeature Sertoli cell neoplasm The presence of a neoplasm of the testis with origin in a Sertoli cell. NCIT:C39976|UMLS:C4020704 hp.json Sertoli cell neoplasia http://purl.obolibrary.org/obo/HP_0100619 HP:0100617 biolink:PhenotypicFeature Testicular seminoma The presence of a seminoma, an undifferentiated germ cell tumor of the testis. NCIT:C9309|SNOMEDCT_US:36741007|SNOMEDCT_US:255107005|UMLS:C0036631|SNOMEDCT_US:443675005|MSH:D018239 hp.json http://purl.obolibrary.org/obo/HP_0100617 HP:0100618 biolink:PhenotypicFeature Leydig cell neoplasia The presence of a neoplasm of the testis with origin in a Leydig cell. UMLS:C4022011|NCIT:C3188 hp.json http://purl.obolibrary.org/obo/HP_0100618 HP:0100615 biolink:PhenotypicFeature Ovarian neoplasm A tumor (abnormal growth of tissue) of the ovary. UMLS:C0919267|MSH:D010051|SNOMEDCT_US:123843001|NCIT:C3262 hp.json Ovarian neoplasia|Ovarian tumor|Neoplasm of the ovary|Ovarian tumour|Neoplasm of the ovaries|Ovarian cancer http://purl.obolibrary.org/obo/HP_0100615 HP:0100616 biolink:PhenotypicFeature Testicular teratoma The presence of a teratoma of the testis. MSH:C562472|UMLS:C0238451|NCIT:C3403 hp.json http://purl.obolibrary.org/obo/HP_0100616 HP:0100613 biolink:PhenotypicFeature Death in early adulthood Death between the age of 16 and 40 years. UMLS:C4022012 hp.json Death in early adulthood http://purl.obolibrary.org/obo/HP_0100613 UBERON:0006598 biolink:AnatomicalEntity presumptive structure Portion of embryonic tissue determined by fate mapping to become a structure. AAO:0000479|ZFA:0001116|TAO:0001116 hp.json future structure|presumptive structures http://purl.obolibrary.org/obo/UBERON_0006598 HP:0100614 biolink:PhenotypicFeature Myositis A general term for inflammation of the muscles without respect to the underlying cause. MSH:D009220|UMLS:C0027121|SNOMEDCT_US:26889001|SNOMEDCT_US:128496001 hp.json Muscle inflammation http://purl.obolibrary.org/obo/HP_0100614 HP:0100622 biolink:PhenotypicFeature Maternal seizure A seizure during pregnancy. UMLS:C4022010 hp.json Maternal seizures http://purl.obolibrary.org/obo/HP_0100622 HP:0100623 biolink:PhenotypicFeature Abnormality of corpus cavernosum UMLS:C4022009 hp.json http://purl.obolibrary.org/obo/HP_0100623 UBERON:0018562 biolink:AnatomicalEntity lower secondary canine tooth A secondary canine tooth that is part of a lower jaw region. FMA:55715 hp.json permanent lower canine tooth|lower permanent canine tooth|mandibular secondary canine tooth http://purl.obolibrary.org/obo/UBERON_0018562 HP:0100620 biolink:PhenotypicFeature Germinoma A type of undifferentiated germ cell tumor that may be benign or malignant. SNOMEDCT_US:28307001|UMLS:C0206660|MSH:D018237 hp.json http://purl.obolibrary.org/obo/HP_0100620 HP:0100621 biolink:PhenotypicFeature Dysgerminoma The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. SNOMEDCT_US:60718004|MSH:D004407|NCIT:C2996|UMLS:C0013377 hp.json http://purl.obolibrary.org/obo/HP_0100621 UBERON:0018561 biolink:AnatomicalEntity upper secondary canine tooth A secondary canine tooth that is part of a upper jaw region. FMA:55714 hp.json permanent upper canine tooth|maxillary secondary canine tooth|upper permanent canine tooth http://purl.obolibrary.org/obo/UBERON_0018561 NBO:0000754 biolink:NamedThing rapid eye movement sleep phenotype "Observable characteristic of behavior related to the stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000754 UBERON:0018568 biolink:AnatomicalEntity lower central secondary incisor tooth A lower jaw incisor that is in_the_central_side_of a dentition. FMA:55723 hp.json mandibular central permanent incisor|lower central permanent incisor tooth|mandibular central secondary incisor tooth http://purl.obolibrary.org/obo/UBERON_0018568 pheno_slim UBERON:0006585 biolink:AnatomicalEntity vestibular organ An organ that is part of a vestibular system. BIRNLEX:2519|UMLS:C0682674 hp.json balance organ http://purl.obolibrary.org/obo/UBERON_0006585 HP:0002277 biolink:PhenotypicFeature Horner syndrome An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. SNOMEDCT_US:271730003|SNOMEDCT_US:12731000|UMLS:C0019937|SNOMEDCT_US:192915005|MSH:D006732 hp.json Horner's syndrome|Oculosympathetic palsy http://purl.obolibrary.org/obo/HP_0002277 HP:0002270 biolink:PhenotypicFeature Abnormality of the autonomic nervous system An abnormality of the autonomic nervous system. UMLS:C4025714 hp.json http://purl.obolibrary.org/obo/HP_0002270 HP:0002271 biolink:PhenotypicFeature obsolete Autonomic dysregulation hp.json http://purl.obolibrary.org/obo/HP_0002271 HP:0100628 biolink:PhenotypicFeature Esophageal diverticulum The presence of a diverticulum of the esophagus. SNOMEDCT_US:414133009|MSH:D004936|SNOMEDCT_US:204667006|UMLS:C0014854 hp.json Esophageal pouch http://purl.obolibrary.org/obo/HP_0100628 HP:0100629 biolink:PhenotypicFeature Midline facial cleft A congenital malformation with a cleft (gap or opening) in the midline of the face. UMLS:C4022007 hp.json Midline facial cleft http://purl.obolibrary.org/obo/HP_0100629 HP:0100626 biolink:PhenotypicFeature Chronic hepatic failure MSH:D058625|UMLS:C2936476|SNOMEDCT_US:235886005 hp.json Chronic liver failure http://purl.obolibrary.org/obo/HP_0100626 UBERON:0006589 biolink:AnatomicalEntity round ligament of uterus The round ligament of the uterus originates at the uterine horns, in the parametrium. It leaves the pelvis via the deep inguinal ring, passes through the inguinal canal and continues on to the labia majora where its fibers spread and mix with the tissue of the mons pubis[WP]. A fibromuscular band that attaches to the uterus and then passes along the broad ligament, out through the inguinal ring, and into the labium majus[MESH]. GAID:130|FMA:20420|UMLS:C0035877|NCIT:C34009|MESH:D012404 hp.json ligamentum teres uteri|ligamentum teres of uterus|Hunter's ligament|ligamentum teres uteri|round ligament of the uterus|round ligament http://purl.obolibrary.org/obo/UBERON_0006589 HP:0002275 biolink:PhenotypicFeature Poor motor coordination UMLS:C1848453 hp.json Poor motor coordination http://purl.obolibrary.org/obo/HP_0002275 HP:0100627 biolink:PhenotypicFeature Displacement of the urethral meatus A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). UMLS:C4020961 hp.json Displacement of the external urethral orifice|Displacement of the male external urethral orifice http://purl.obolibrary.org/obo/HP_0100627 HP:0100624 biolink:PhenotypicFeature Corpus cavernosum sclerosis UMLS:C4022008 hp.json http://purl.obolibrary.org/obo/HP_0100624 HP:0002273 biolink:PhenotypicFeature Tetraparesis Weakness of all four limbs. MSH:D011782|UMLS:C0270790|SNOMEDCT_US:91327001 hp.json Quadriparesis http://purl.obolibrary.org/obo/HP_0002273 HP:0100625 biolink:PhenotypicFeature Enlarged thorax UMLS:C4020962 hp.json Wide rib cage|Wide thorax http://purl.obolibrary.org/obo/HP_0100625 CHEBI:33709 biolink:ChemicalSubstance amino acid A carboxylic acid containing one or more amino groups. Wikipedia:Amino_acid hp.json Aminocarbonsaeure|Aminokarbonsaeure|amino acids|Aminosaeure http://purl.obolibrary.org/obo/CHEBI_33709 3_STAR HP:0100633 biolink:PhenotypicFeature Esophagitis Inflammation of the esophagus. MEDDRA:10030216|UMLS:C0014868|MSH:D004941|SNOMEDCT_US:16761005 hp.json Inflammation of the oesophagus|Oesophagitis|Inflammation of the esophagus http://purl.obolibrary.org/obo/HP_0100633 hposlim_core UBERON:0018553 biolink:AnatomicalEntity primary central incisor tooth hp.json primary central incisor http://purl.obolibrary.org/obo/UBERON_0018553 HP:0100634 biolink:PhenotypicFeature Neuroendocrine neoplasm A tumor that originates from a neuroendocrine cell. UMLS:C0206754|SNOMEDCT_US:128928004|SNOMEDCT_US:255046005|MSH:D018358 hp.json Neuroendocrine neoplasia http://purl.obolibrary.org/obo/HP_0100634 UBERON:0018554 biolink:AnatomicalEntity primary lateral incisor tooth hp.json primary lateral incisor http://purl.obolibrary.org/obo/UBERON_0018554 HP:0100631 biolink:PhenotypicFeature Neoplasm of the adrenal gland A tumor (abnormal growth of tissue) of the adrenal gland. NCIT:C3262|UMLS:C0001624|MSH:D000310|SNOMEDCT_US:127021009 hp.json Adrenal neoplasia http://purl.obolibrary.org/obo/HP_0100631 UBERON:0018551 biolink:AnatomicalEntity central incisor tooth hp.json central incisor http://purl.obolibrary.org/obo/UBERON_0018551 pheno_slim HP:0100632 biolink:PhenotypicFeature Pulmonary sequestration The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration). UMLS:C0006288|MSH:D001998|SNOMEDCT_US:18620009|UMLS:C4020703 hp.json Cystic lung lesion http://purl.obolibrary.org/obo/HP_0100632 NBO:0000767 biolink:NamedThing memory behavior phenotype "Observable characteristic of behaviour related to the ability of an organism's ability to store, retain, and recall information and experiences." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000767 UBERON:0018552 biolink:AnatomicalEntity lateral incisor tooth hp.json lateral incisor http://purl.obolibrary.org/obo/UBERON_0018552 pheno_slim HP:0100630 biolink:PhenotypicFeature Neoplasia of the nasopharynx SNOMEDCT_US:126680004|NCIT:C3262|UMLS:C0027439|MSH:D009303 hp.json Tumor of the nasopharynx|Nasopharyngeal neoplasm|Neoplasm of the nasopharynx|Tumour of the nasopharynx http://purl.obolibrary.org/obo/HP_0100630 NBO:0000765 biolink:NamedThing learning and/or memory behavior phenotype "Observable characteristic of behaviour related to the acquisition and processing of information and/or the storage and retrieval of this information over time." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000765 UBERON:0018550 biolink:AnatomicalEntity secondary incisor tooth FMA:84201 hp.json permanent incisor tooth|permanent incisor http://purl.obolibrary.org/obo/UBERON_0018550 CHEBI:33702 biolink:ChemicalSubstance polyatomic cation A cation consisting of more than one atom. hp.json polyatomic cations http://purl.obolibrary.org/obo/CHEBI_33702 3_STAR CHEBI:33703 biolink:ChemicalSubstance amino-acid cation hp.json amino-acid cation|amino acid cation|amino-acid cations http://purl.obolibrary.org/obo/CHEBI_33703 3_STAR CHEBI:33704 biolink:ChemicalSubstance alpha-amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. KEGG:C00045|KEGG:C05167 hp.json alpha-amino carboxylic acids|Amino acids|alpha-amino acids|Amino acid|alpha-amino acids|alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33704 3_STAR CHEBI:33706 biolink:ChemicalSubstance beta-amino acid A non-proteinogenic amino acid in which the amino group is located on the carbon atom at the position beta to the carboxy group. hp.json beta-amino acids|beta-amino acid http://purl.obolibrary.org/obo/CHEBI_33706 3_STAR CHEBI:33707 biolink:ChemicalSubstance gamma-amino acid A non-proteinogenic amino-acid in which the amino group is located on the carbon atom at the position gamma to the carboxy group. hp.json gamma-amino acids|gamma-amino acid http://purl.obolibrary.org/obo/CHEBI_33707 3_STAR CHEBI:33708 biolink:ChemicalSubstance amino-acid residue When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue. hp.json amino-acid residues|protein residue|amino acid residue|amino-acid residue|amino acid residue http://purl.obolibrary.org/obo/CHEBI_33708 3_STAR HP:0002289 biolink:PhenotypicFeature Alopecia universalis Loss of all hair on the entire body. SNOMEDCT_US:86166000|UMLS:C0263505|MSH:C537055 hp.json Universal alopecia|Alopecia, complete http://purl.obolibrary.org/obo/HP_0002289 UBERON:0006574 biolink:AnatomicalEntity pectinate line The pectinate line (anocutaneous line, dentate line, anorectal junction) is a line which divides the upper 2/3rds and lower 1/3rd of the anal canal. Developmentally, this line represents the hindgut-proctodeum junction. It is an important anatomical landmark, and several distinctions can be made based upon the location of a structure relative to this line:. EMAPA:19159|SCTID:245445008|NCIT:C34245|UMLS:C0821671|FMA:75383|Wikipedia:Pectinate_line hp.json linea anocutanea|site of anal membrane|pectinate line of anal canal|recto-anal junction|dentate line|recto-anal junction|linea pectinata canalis analis|linea anocutanea|dentate line|Hilton's 'white line' http://purl.obolibrary.org/obo/UBERON_0006574 HP:0002287 biolink:PhenotypicFeature Progressive alopecia Progressive loss of hair. UMLS:C1851885 hp.json http://purl.obolibrary.org/obo/HP_0002287 CHEBI:33700 biolink:ChemicalSubstance proteinogenic amino-acid residue hp.json proteinogenic amino-acid residues|standard amino-acid residues|standard amino acid residues|common amino acid residues|canonical amino-acid residue|canonical amino-acid residues http://purl.obolibrary.org/obo/CHEBI_33700 3_STAR HP:0002281 biolink:PhenotypicFeature obsolete Gray matter heterotopias hp.json http://purl.obolibrary.org/obo/HP_0002281 HP:0002282 biolink:PhenotypicFeature Gray matter heterotopia Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. SNOMEDCT_US:417338002|UMLS:C0008519|SNOMEDCT_US:128490007|MSH:D002828|SNOMEDCT_US:416286003 hp.json Heterotopia|Neuronal heterotopia|Grey matter heterotopias|Gray matter heterotopias|Heterotopias|Grey matter heterotopia http://purl.obolibrary.org/obo/HP_0002282 HP:0100639 biolink:PhenotypicFeature Erectile dysfunction A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. hp.json Erectile abnormalities|Abnormal erection http://purl.obolibrary.org/obo/HP_0100639 HP:0002280 biolink:PhenotypicFeature Enlarged cisterna magna Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. UMLS:C1853377 hp.json Mega cisterna magna|Large cisterna magna http://purl.obolibrary.org/obo/HP_0002280 HP:0100637 biolink:PhenotypicFeature obsolete Neoplasia of the nose hp.json http://purl.obolibrary.org/obo/HP_0100637 HP:0002286 biolink:PhenotypicFeature Fair hair A lesser degree of hair pigmentation than would otherwise be expected. UMLS:C1849221|SNOMEDCT_US:297995004|UMLS:C0239801 hp.json Fair hair|Light colored hair|Straw colored hair|Flaxen hair colour|Sandy hair colour|Straw coloured hair|Fair hair colour|Light coloured hair|Blond hair|Fair hair color|Towhead (hair color)|Sandy hair color|Flaxen hair color http://purl.obolibrary.org/obo/HP_0002286 HP:0100638 biolink:PhenotypicFeature Neoplasm of the pharynx A neoplasm originating in the pharynx. SNOMEDCT_US:126685009|NCIT:C3262|MSH:D010610|UMLS:C0031347 hp.json Tumour of the pharynx|Neoplasia of the pharynx|Tumor of the pharynx|Pharyngeal neoplasm http://purl.obolibrary.org/obo/HP_0100638 HP:0002283 biolink:PhenotypicFeature Global brain atrophy Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. UMLS:C0241816 hp.json Generalised brain degeneration|Generalised cerebral atrophy|Generalized brain atrophy|Generalized cerebral atrophy|Diffuse brain atrophy|Generalised brain atrophy|Generalized brain degeneration http://purl.obolibrary.org/obo/HP_0002283 NCBITaxon:78536 biolink:OrganismalEntity Euphyllophyta GC_ID:1 hp.json euphyllophytes http://purl.obolibrary.org/obo/NCBITaxon_78536 HP:0100635 biolink:PhenotypicFeature Carotid paraganglioma A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery. UMLS:C4022005 hp.json http://purl.obolibrary.org/obo/HP_0100635 HP:0100636 biolink:PhenotypicFeature Pulmonary paraglioma A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells. UMLS:C4022004 hp.json http://purl.obolibrary.org/obo/HP_0100636 GO:0005576 biolink:CellularComponent extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. Wikipedia:Extracellular hp.json extracellular http://purl.obolibrary.org/obo/GO_0005576 goslim_metagenomics|goslim_mouse|goslim_yeast|goslim_candida|goslim_agr|goslim_generic|prokaryote_subset|goslim_plant|goslim_pir|goslim_flybase_ribbon|goslim_aspergillus|goslim_chembl GO:0005577 biolink:CellularComponent fibrinogen complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. hp.json fibrinogen alpha chain|fibrinogen beta chain|fibrinogen|fibrinogen gamma chain http://purl.obolibrary.org/obo/GO_0005577 HP:0004839 biolink:PhenotypicFeature Pyropoikilocytosis A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. SNOMEDCT_US:9434008|UMLS:C0520739|MSH:C563004 hp.json hereditary pyropoikilocytosis http://purl.obolibrary.org/obo/HP_0004839 GO:0005575 biolink:CellularComponent cellular_component A location, relative to cellular compartments and structures, occupied by a macromolecular machine when it carries out a molecular function. There are two ways in which the gene ontology describes locations of gene products: (1) relative to cellular structures (e.g., cytoplasmic side of plasma membrane) or compartments (e.g., mitochondrion), and (2) the stable macromolecular complexes of which they are parts (e.g., the ribosome). NIF_Subcellular:sao1337158144 hp.json subcellular entity|cell or subcellular entity|cellular component http://purl.obolibrary.org/obo/GO_0005575 goslim_yeast|goslim_candida|goslim_plant|goslim_pir|goslim_aspergillus|goslim_chembl|goslim_metagenomics HP:0004836 biolink:PhenotypicFeature Acute promyelocytic leukemia A type of acute myeloid leukemia in which abnormal promyelocytes predominate. SNOMEDCT_US:28950004|UMLS:C0023487|MSH:D015473|SNOMEDCT_US:110004001 hp.json Acute promyelocytic leukaemia http://purl.obolibrary.org/obo/HP_0004836 HP:0004831 biolink:PhenotypicFeature Recurrent thromboembolism Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream. UMLS:C0749398|UMLS:C4025286 hp.json Recurrent thromboembolic disease http://purl.obolibrary.org/obo/HP_0004831 PATO:0000085 biolink:NamedThing sensitivity toward A quality inhering in a bearer by virtue of the bearer's disposition to detect or perceive external stimulation. hp.json sensitivity http://purl.obolibrary.org/obo/PATO_0000085 disposition_slim|relational_slim|attribute_slim HP:0004835 biolink:PhenotypicFeature Microspherocytosis The presence of erythrocytes that are sphere-shaped and reduced in size. UMLS:C4025285 hp.json http://purl.obolibrary.org/obo/HP_0004835 PATO:0000082 biolink:NamedThing persistence A rhythm quality inhering in a bearer by virtue of the repetitiveness of bearer's rhythm. hp.json http://purl.obolibrary.org/obo/PATO_0000082 attribute_slim GO:0005587 biolink:CellularComponent collagen type IV trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. Wikipedia:Collagen_type_IV hp.json http://purl.obolibrary.org/obo/GO_0005587 GO:0005585 biolink:NamedThing collagen type II trimer hp.json http://purl.obolibrary.org/obo/GO_0005585 GO:0005583 biolink:CellularComponent fibrillar collagen trimer Any triple helical collagen trimer that forms fibrils. hp.json http://purl.obolibrary.org/obo/GO_0005583 HP:0004848 biolink:PhenotypicFeature Ph-positive acute lymphoblastic leukemia A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity. SNOMEDCT_US:425688002|SNOMEDCT_US:426955004|UMLS:C1960397 hp.json Philadelphia-positive acute lymphoblastic leukaemia|Philadelphia-positive acute lymphoblastic leukemia|Ph-positive acute lymphoblastic leukaemia http://purl.obolibrary.org/obo/HP_0004848 GO:0005584 biolink:NamedThing collagen type I trimer hp.json http://purl.obolibrary.org/obo/GO_0005584 GO:0005581 biolink:CellularComponent collagen trimer A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. Wikipedia:Collagen hp.json http://purl.obolibrary.org/obo/GO_0005581 HP:0004841 biolink:PhenotypicFeature Reduced factor XII activity Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. UMLS:C0015526|SNOMEDCT_US:46981006|MSH:D005175 hp.json Factor XII deficiency|Hageman factor deficiency http://purl.obolibrary.org/obo/HP_0004841 HP:0004840 biolink:PhenotypicFeature Hypochromic microcytic anemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. SNOMEDCT_US:44666001|MSH:C536357|UMLS:C0271901 hp.json Hypochromic, microcytic anaemia|Hypochromic, microcytic anemia|Hypochromic microcytic anaemia http://purl.obolibrary.org/obo/HP_0004840 HP:0004846 biolink:PhenotypicFeature Prolonged bleeding after surgery Bleeding that persists longer than the normal time following a surgical procedure. UMLS:C4021646 hp.json Protracted bleeding after surgery|Prolonged bleeding after surgery|Excessive bleeding during surgery http://purl.obolibrary.org/obo/HP_0004846 HP:0004845 biolink:PhenotypicFeature Acute monocytic leukemia The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. MSH:D007948|UMLS:C0023465|SNOMEDCT_US:22331004|SNOMEDCT_US:413441006 hp.json AMoL|AML-M5|Acute monoblastic leukemia|Acute monocytic leukaemia|Acute monoblastic leukaemia http://purl.obolibrary.org/obo/HP_0004845 HP:0004844 biolink:PhenotypicFeature Coombs-positive hemolytic anemia A type of hemolytic anemia in which the Coombs test is positive. SNOMEDCT_US:74789008|UMLS:C0520736 hp.json Coombs-positive hemolytic anaemia|Direct Coombs positive http://purl.obolibrary.org/obo/HP_0004844 CHEBI:18186 biolink:ChemicalSubstance tyrosine An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring. CAS:55520-40-6|KNApSAcK:C00001397|PMID:17190852|Beilstein:515881|Reaxys:515881|Gmelin:27744|CAS:556-03-6|KEGG:C01536 hp.json Tyr|Tyrosine|tirosina|2-Amino-3-(p-hydroxyphenyl)propionic acid|Y|2-amino-3-(4-hydroxyphenyl)propanoic acid|Tyrosin|tyrosine|3-(p-Hydroxyphenyl)alanine http://purl.obolibrary.org/obo/CHEBI_18186 3_STAR HP:0004817 biolink:PhenotypicFeature Drug-sensitive hemolytic anemia A form of hemolytic anemia that is triggered by ingestion of certain drugs. UMLS:C4025289 hp.json Drug-sensitive hemolytic anaemia http://purl.obolibrary.org/obo/HP_0004817 HP:0004814 biolink:PhenotypicFeature Fava bean-induced hemolytic anemia A kind of hemolytic anemia that is induced by the ingestion of fava beans. UMLS:C4021648 hp.json Hemolytic anemia following ingestion of fava beans|Fava bean-induced hemolytic anaemia|Hemolytic anaemia following ingestion of fava beans http://purl.obolibrary.org/obo/HP_0004814 HP:0004819 biolink:PhenotypicFeature Normocytic hypoplastic anemia A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). UMLS:C1835875 hp.json Normocytic hypoplastic anaemia http://purl.obolibrary.org/obo/HP_0004819 HP:0004818 biolink:PhenotypicFeature Paroxysmal nocturnal hemoglobinuria SNOMEDCT_US:1963002|UMLS:C0024790|MSH:D006457 hp.json Paroxysmal nocturnal haemoglobinuria http://purl.obolibrary.org/obo/HP_0004818 HP:0004813 biolink:PhenotypicFeature Post-transfusion thrombocytopenia Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages. MSH:C562868|UMLS:C0398648|UMLS:C1868252|SNOMEDCT_US:73162004 hp.json Post-transfusion purpura http://purl.obolibrary.org/obo/HP_0004813 HP:0004812 biolink:PhenotypicFeature B Acute Lymphoblastic Leukemia A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. hp.json Pre-B-cell acute lymphoblastic leukemia|Pre-B-cell acute lymphoblastic leukaemia|B Acute Lymphoblastic Leukaemia http://purl.obolibrary.org/obo/HP_0004812 HP:0004810 biolink:PhenotypicFeature Congenital hypoplastic anemia A type of hypoplastic anemia with congenital onset. SNOMEDCT_US:52951008|UMLS:C1260899|SNOMEDCT_US:234371002|MSH:D000742|SNOMEDCT_US:88854002|UMLS:C0002876|MSH:D029503 hp.json Congenital hypoplastic anaemia|Congenital dyserythropoietic anemia|Congenital dyserythropoietic anaemia http://purl.obolibrary.org/obo/HP_0004810 GO:0030501 biolink:BiologicalProcess positive regulation of bone mineralization Any process that activates or increases the frequency, rate or extent of bone mineralization. hp.json up-regulation of bone mineralization|up regulation of bone mineralization|activation of bone mineralization|stimulation of bone mineralization|upregulation of bone mineralization http://purl.obolibrary.org/obo/GO_0030501 GO:0030502 biolink:BiologicalProcess negative regulation of bone mineralization Any process that stops, prevents, or reduces the frequency, rate or extent of bone mineralization. hp.json inhibition of bone mineralization|downregulation of bone mineralization|down-regulation of bone mineralization|down regulation of bone mineralization http://purl.obolibrary.org/obo/GO_0030502 GO:0030500 biolink:BiologicalProcess regulation of bone mineralization Any process that modulates the frequency, rate or extent of bone mineralization. hp.json http://purl.obolibrary.org/obo/GO_0030500 HP:0004828 biolink:PhenotypicFeature Refractory anemia with ringed sideroblasts A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. UMLS:C1264195|SNOMEDCT_US:109998009|ICD-O:M9982/3|SNOMEDCT_US:128846006 hp.json Refractory anaemia with ringed sideroblasts|Myelodysplasia with sideroblastosis http://purl.obolibrary.org/obo/HP_0004828 HP:0004826 biolink:PhenotypicFeature Folate-unresponsive megaloblastic anemia A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. UMLS:C4025287 hp.json Folate-unresponsive megaloblastic anaemia http://purl.obolibrary.org/obo/HP_0004826 HP:0004825 biolink:PhenotypicFeature Increased hemoglobin oxygen affinity An abnormal increase in the binding affinity of hemoglobin for oxygen. UMLS:C4021647 hp.json Increased hemoglobin O2 affinity|Increased Hb O2 affinity|Increased haemoglobin oxygen affinity|Increased haemoglobin O2 affinity|Increased Hb oxygen affinity http://purl.obolibrary.org/obo/HP_0004825 HP:0004820 biolink:PhenotypicFeature Acute myelomonocytic leukemia An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. SNOMEDCT_US:110005000|MSH:D015479|UMLS:C0023479|SNOMEDCT_US:277601005|SNOMEDCT_US:30962008 hp.json Acute myelomonocytic leukaemia http://purl.obolibrary.org/obo/HP_0004820 HP:0004823 biolink:PhenotypicFeature Anisopoikilocytosis A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. UMLS:C2675920 hp.json http://purl.obolibrary.org/obo/HP_0004823 HP:0004822 biolink:PhenotypicFeature Atypical elliptocytosis UMLS:C1857010|MSH:C565598 hp.json http://purl.obolibrary.org/obo/HP_0004822 HP:0004821 biolink:PhenotypicFeature Hypersegmentation of neutrophil nuclei An excessive division of the lobes of the nucleus of a neutrophil. UMLS:C4025288 hp.json Hypersegmentation of neutrophil nuclei in peripheral blood|Hypermature neutrophils http://purl.obolibrary.org/obo/HP_0004821 GO:0005539 biolink:MolecularActivity glycosaminoglycan binding Binding to a glycan (polysaccharide) containing a substantial proportion of aminomonosaccharide residues. hp.json http://purl.obolibrary.org/obo/GO_0005539 goslim_chembl PATO:0000048 biolink:NamedThing hardness A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced hp.json impenetrability|toughness http://purl.obolibrary.org/obo/PATO_0000048 disposition_slim|attribute_slim PATO:0000047 biolink:NamedThing biological sex An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved. hp.json http://purl.obolibrary.org/obo/PATO_0000047 attribute_slim HP:0002218 biolink:PhenotypicFeature Silver-gray hair Hypopigmented hair that appears silver-gray. UMLS:C1836576 hp.json Silver-gray hair colour|Silver-gray hair color|Silver-gray hair|Silvery-gray hair http://purl.obolibrary.org/obo/HP_0002218 PATO:0000049 biolink:NamedThing intensity A quality inhering in a bearer by virtue of the bearer's possessing or displaying a distinctive feature in type or degree or effect or force. hp.json http://purl.obolibrary.org/obo/PATO_0000049 attribute_slim|hpo_slim HP:0002219 biolink:PhenotypicFeature Facial hypertrichosis Excessive, increased hair growth located in the facial region. MSH:C565029|UMLS:C1851400 hp.json Increased facial hair growth http://purl.obolibrary.org/obo/HP_0002219 CHEBI:33792 biolink:ChemicalSubstance canonical ribonucleoside residue hp.json canonical ribonucleoside residues|common ribonucleoside residues|N|Nuc|standard ribonucleoside residues|common ribonucleoside residue http://purl.obolibrary.org/obo/CHEBI_33792 3_STAR HP:0002212 biolink:PhenotypicFeature Curly hair SNOMEDCT_US:225570000|UMLS:C0558165 hp.json Curly hair http://purl.obolibrary.org/obo/HP_0002212 HP:0004875 biolink:PhenotypicFeature Neonatal inspiratory stridor UMLS:C4025281 hp.json http://purl.obolibrary.org/obo/HP_0004875 HP:0002213 biolink:PhenotypicFeature Fine hair Hair that is fine or thin to the touch. SNOMEDCT_US:247546006|UMLS:C0423867 hp.json Thinned hair|Fine hair|Thin hair texture|Fine hair texture|Thin hair shaft|Fine hair shaft|Thin hair http://purl.obolibrary.org/obo/HP_0002213 hposlim_core HP:0002211 biolink:PhenotypicFeature White forelock A triangular depigmented region of white hairs located in the anterior midline of the scalp. UMLS:C0344312|SNOMEDCT_US:247564004 hp.json White part of hair above forehead|Poliosis of forelock hair|Poliosis of anterior hair http://purl.obolibrary.org/obo/HP_0002211 hposlim_core HP:0004872 biolink:PhenotypicFeature Incisional hernia An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. SNOMEDCT_US:236037000|MSH:D000069290|UMLS:C4021645|SNOMEDCT_US:241556001|UMLS:C0267716 hp.json Recurrent abdominal hernia http://purl.obolibrary.org/obo/HP_0004872 PATO:0000044 biolink:NamedThing frequency A physical quality which inheres in a bearer by virtue of the number of the bearer's repetitive actions in a particular time. hp.json http://purl.obolibrary.org/obo/PATO_0000044 attribute_slim|scalar_slim HP:0002216 biolink:PhenotypicFeature Premature graying of hair Development of gray hair at a younger than normal age. SNOMEDCT_US:387833009|UMLS:C0263498 hp.json Premature graying of the hair|Premature graying|Premature hair graying|Premature graying of hair|Premature hair greying|Premature greying of hair|Early graying|Early greying|Premature greying|Premature greying of the hair http://purl.obolibrary.org/obo/HP_0002216 hposlim_core HP:0004879 biolink:PhenotypicFeature Intermittent hyperventilation Episodic hyperventilation. SNOMEDCT_US:423427003|UMLS:C1828017 hp.json Episodic hyperventilation|Intermittent overbreathing http://purl.obolibrary.org/obo/HP_0004879 HP:0004878 biolink:PhenotypicFeature Intercostal muscle weakness Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. UMLS:C0240017 hp.json Dependence on diaphragmatic breathing|Muscle weakness between ribs http://purl.obolibrary.org/obo/HP_0004878 HP:0002217 biolink:PhenotypicFeature Slow-growing hair Hair whose growth is slower than normal. UMLS:C1832348 hp.json Slow speed of hair growth|Slow growing hair|Slow-growing hair|Slow rate of hair growth http://purl.obolibrary.org/obo/HP_0002217 hposlim_core HP:0004876 biolink:PhenotypicFeature Spontaneous neonatal pneumothorax Pneumothorax occurring neonatally without traumatic injury to the chest or lung. UMLS:C1857021 hp.json Neonatal pneumothorax http://purl.obolibrary.org/obo/HP_0004876 HP:0002215 biolink:PhenotypicFeature Sparse axillary hair Reduced number or density of axillary hair. UMLS:C1858574 hp.json Little underarm hair|Sparse scalp, axillary, and pubic hair|sparse to absent axillary hair|Limited armpit hair|Sparse axillary and pubic hair http://purl.obolibrary.org/obo/HP_0002215 UBERON:0006526 biolink:AnatomicalEntity right lung alveolar system MA:0001784|EMAPA:35717 hp.json http://purl.obolibrary.org/obo/UBERON_0006526 UBERON:0006525 biolink:AnatomicalEntity left lung alveolar system MA:0001775|EMAPA:19001 hp.json http://purl.obolibrary.org/obo/UBERON_0006525 CHEBI:5520 biolink:ChemicalSubstance gonadorelin A ten-membered synthetic oligopeptide comprising pyroglutamyl, histidyl, tryptophyl, seryl, tyrosyl, glycyl, leucyl, arginyl, prolyl and glycinamide residues joined in sequence. CAS:33515-09-2|Wikipedia:Gonadorelin|CAS:33515-09-2|KEGG:C07607|PMID:22112812|PMID:22289217|PMID:22761896|Reaxys:741807|PMID:21872303|PMID:22504307|DrugBank:DB00644|PMID:22214466|KEGG:D08027|Drug_Central:2958 hp.json Gonadoliberin I|LH-Releasing factor|GnRH-I|luliberin|LH-Releasing hormone|gonadorelina|5-oxo-L-prolyl-L-histidyl-L-tryptophyl-L-seryl-L-tyrosylglycyl-L-leucyl-L-arginyl-L-prolylglycinamide|5-oxo-PHWSYGLRPGNH2|Gonadotropin-releasing factor|Follicle-stimulating hormone-releasing factor|Luteinizing hormone-releasing factor|p-Glu-His-Trp-Ser-Tyr-Gly-Leu-Arg-Pro-Gly-NH2|Gonadotropin-releasing hormone I|Gonadorelin|gonadorelin|gonadorelinum http://purl.obolibrary.org/obo/CHEBI_5520 3_STAR UBERON:0006524 biolink:AnatomicalEntity alveolar system System pertaining to a bronchus and alveoli. BTO:0000136|MA:0000416|EMAPA:32692|CALOHA:TS-1296 hp.json bronchoalveolar system|pulmonary alveolar system http://purl.obolibrary.org/obo/UBERON_0006524 pheno_slim HP:0004871 biolink:PhenotypicFeature Perineal fistula The presence of a fistula between the bowel and the perineum. UMLS:C0561921|SNOMEDCT_US:284077005 hp.json http://purl.obolibrary.org/obo/HP_0004871 HP:0004870 biolink:PhenotypicFeature Chronic hemolytic anemia An chronic form of hemolytic anemia. UMLS:C1387532|SNOMEDCT_US:707480001 hp.json Chronic hemolytic anaemia|hemolytic anemia, chronic http://purl.obolibrary.org/obo/HP_0004870 CHEBI:18154 biolink:ChemicalSubstance polysaccharide A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. KEGG:C00420 hp.json Glykane|polisacaridos|polisacarido|polysaccharides|Glycane|glycans|Polysaccharide|Glykan|Glycan http://purl.obolibrary.org/obo/CHEBI_18154 3_STAR CHEBI:33791 biolink:ChemicalSubstance canonical nucleoside residue hp.json common nucleoside residues|nucleoside residue|standard nucleoside residues|canonical nucleoside residues http://purl.obolibrary.org/obo/CHEBI_33791 3_STAR BSPO:0000121 biolink:NamedThing in right side of X in right side of Y <=> if Y is subdivided into two left and right portions, X is part of the right portion. BSPO:0000121 hp.json http://purl.obolibrary.org/obo/BSPO_0000121 BSPO:0000120 biolink:NamedThing in left side of X in left side of Y <=> if Y is subdivided into two left and right portions, X is part of the left portion. BSPO:0000120 hp.json http://purl.obolibrary.org/obo/BSPO_0000120 BSPO:0000123 biolink:NamedThing in_anterior_side_of X anterior side of Y <=> if Y is subdivided into two anterior and posterior portions, X is part of the anterior portion. BSPO:0000123 hp.json http://purl.obolibrary.org/obo/BSPO_0000123 BSPO:0000122 biolink:NamedThing in posterior side of X posterior side of Y <=> if Y is subdivided into two anterior and posterior portions, X is part of the posterior portion. BSPO:0000122 hp.json http://purl.obolibrary.org/obo/BSPO_0000122 BSPO:0000125 biolink:NamedThing in_distal_side_of x in distal side of y <=> if y is subdivided into two proximal and distal portions, y is part of the distal portion. BSPO:0000125 hp.json http://purl.obolibrary.org/obo/BSPO_0000125 BSPO:0000124 biolink:NamedThing in_proximal_side_of x in proximal side of y <=> if y is subdivided into two proximal and distal portions, y is part of the proximal portion. BSPO:0000124 hp.json http://purl.obolibrary.org/obo/BSPO_0000124 UBERON:0006508 biolink:AnatomicalEntity interosseous muscle of autopod Any of the muscles of the autopod region that lie between metacarpal or metatarsal bones. hp.json interossei|m. interosseous|interosseus muscle|interosseous http://purl.obolibrary.org/obo/UBERON_0006508 BSPO:0000126 biolink:NamedThing in lateral side of X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure BSPO:0000126 hp.json http://purl.obolibrary.org/obo/BSPO_0000126 HP:0002229 biolink:PhenotypicFeature obsolete Alopecia areata hp.json http://purl.obolibrary.org/obo/HP_0002229 GO:0005540 biolink:MolecularActivity hyaluronic acid binding Binding to hyaluronic acid, a polymer composed of repeating dimeric units of glucuronic acid and N-acetyl glucosamine. hp.json hyaluronan binding http://purl.obolibrary.org/obo/GO_0005540 HP:0002223 biolink:PhenotypicFeature Absent eyebrow Absence of the eyebrow. SNOMEDCT_US:253208007|UMLS:C0578682|UMLS:C4280582|UMLS:C4280581|SNOMEDCT_US:422441003|UMLS:C0431448 hp.json Agenesis of eyebrows|Aplasia of eyebrows|Absent eyebrow|Loss of eyebrows|Failure of development of eyebrows|Absent eyebrows|Missing eyebrows http://purl.obolibrary.org/obo/HP_0002223 hposlim_core HP:0004886 biolink:PhenotypicFeature Congenital laryngeal stridor UMLS:C0265763|SNOMEDCT_US:55490007 hp.json http://purl.obolibrary.org/obo/HP_0004886 PATO:0000051 biolink:NamedThing morphology A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure. hp.json http://purl.obolibrary.org/obo/PATO_0000051 attribute_slim HP:0002224 biolink:PhenotypicFeature Woolly hair The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. UMLS:C4072836|UMLS:C4072835|UMLS:C4073292|MEDDRA:10048017|UMLS:C0343073|SNOMEDCT_US:52564001 hp.json Wooly hair|Nappy hair texture|Kinked hair|Kinky hair texture|Afro-textured hair http://purl.obolibrary.org/obo/HP_0002224 hposlim_core HP:0004885 biolink:PhenotypicFeature Episodic respiratory distress UMLS:C1844945 hp.json respiratory distress, episodic|Episodic difficulty breathing http://purl.obolibrary.org/obo/HP_0004885 HP:0002221 biolink:PhenotypicFeature Absent axillary hair Absence of axillary hair. UMLS:C1859392 hp.json http://purl.obolibrary.org/obo/HP_0002221 PATO:0000052 biolink:NamedThing shape A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). hp.json relational shape quality http://purl.obolibrary.org/obo/PATO_0000052 attribute_slim HP:0002227 biolink:PhenotypicFeature White eyelashes White color (lack of pigmentation) of the eyelashes. UMLS:C1836736|UMLS:C4280578 hp.json Pale eyelashes|Blonde eyelashes|White eyelashes|Grey eyelashes|Depigmented eyelashes http://purl.obolibrary.org/obo/HP_0002227 HP:0004889 biolink:PhenotypicFeature Intermittent episodes of respiratory insufficiency due to muscle weakness UMLS:C3807025 hp.json http://purl.obolibrary.org/obo/HP_0004889 PATO:0000057 biolink:NamedThing occurrence A quality of a single process inhering in a bearer by virtue of the bearer's occurrence. hp.json temporal|incidence http://purl.obolibrary.org/obo/PATO_0000057 hpo_slim|attribute_slim HP:0002225 biolink:PhenotypicFeature Sparse pubic hair Reduced number or density of pubic hair. UMLS:C1858573 hp.json sparse to absent pubic hair|Decreased sexual hair|Sparse pubic hair http://purl.obolibrary.org/obo/HP_0002225 hposlim_core HP:0004887 biolink:PhenotypicFeature Respiratory failure requiring assisted ventilation A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. UMLS:C4025279 hp.json Respiratory distress requiring endotracheal intubation|Respiratory distress requiring mechanical ventilation|Respiratory distress necessitating mechanical ventilation http://purl.obolibrary.org/obo/HP_0004887 HP:0002226 biolink:PhenotypicFeature White eyebrow White color (lack of pigmentation) of the eyebrow. UMLS:C4280579|UMLS:C1836737|UMLS:C4280580 hp.json Pale eyebrow|White eyebrow|Blonde eyebrow|Grey eyebrow|Hypopigmented eyebrow|Depigmented eyebrow http://purl.obolibrary.org/obo/HP_0002226 hposlim_core UBERON:0006517 biolink:AnatomicalEntity kidney calyx Recesses of the kidney pelvis which divides into two wide, cup-shaped major renal calices, with each major calix subdivided into 7 to 14 minor calices. Urine empties into a minor calix from collecting tubules, then passes through the major calix, renal pelvis, and ureter to enter the urinary bladder. (From Moore, Clinically Oriented Anatomy, 3d ed, p211). FMA:284558|NCIT:C12927|GAID:427|MA:0000369|MESH:D007670|EMAPA:18676|UMLS:C0022651 hp.json renal calyx|calyx|renal calix|calices renales|calices renales http://purl.obolibrary.org/obo/UBERON_0006517 pheno_slim|human_reference_atlas UBERON:0006514 biolink:AnatomicalEntity pallidum Part of what are called the basal ganglia of the brain which consist of the globus pallidus and the ventral pallidum. FMA:83684|BAMS:PAL|MA:0000889|EMAPA:32780|MBA:803 hp.json neuraxis pallidum|pallidum of neuraxis http://purl.obolibrary.org/obo/UBERON_0006514 HP:0004881 biolink:PhenotypicFeature Episodic hypoventilation UMLS:C1844946 hp.json Episodic slow breathing|Episodic under breathing http://purl.obolibrary.org/obo/HP_0004881 HP:0002220 biolink:PhenotypicFeature Melanin pigment aggregation in hair shafts UMLS:C1843390 hp.json http://purl.obolibrary.org/obo/HP_0002220 HP:0004880 biolink:PhenotypicFeature Respiratory infections in early life Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections. UMLS:C4025280 hp.json http://purl.obolibrary.org/obo/HP_0004880 CHEBI:18183 biolink:ChemicalSubstance 5-oxo-L-proline An optically active form of 5-oxoproline having L-configuration. KNApSAcK:C00007403|DrugBank:DB03088|Beilstein:5251861|CAS:98-79-3|CAS:98-79-3|YMDB:YMDB00107|PMID:22619187|Reaxys:82132|Beilstein:82132|PMID:17439666|HMDB:HMDB0000267|Wikipedia:Pyroglutamic_acid|PDBeChem:PCA|KEGG:C01879|MetaCyc:5-OXOPROLINE|CAS:98-79-3|Gmelin:1125330|PMID:22560249 hp.json (-)-2-pyrrolidone-5-carboxylic acid|5-Pyrrolidone-2-carboxylic acid|L-5-Pyrrolidone-2-carboxylic acid|Pyroglutamic acid|(S)-pyroglutamic acid|Pyroglutamate|L-Pyroglutamic acid|5-oxo-L-proline|PYROGLUTAMIC ACID|(2S)-5-oxopyrrolidine-2-carboxylic acid|pidolic acid|(S)-(-)-2-pyrrolidone-5-carboxylic acid|5-Oxo-L-proline http://purl.obolibrary.org/obo/CHEBI_18183 3_STAR GO:0005515 biolink:MolecularActivity protein binding Binding to a protein. hp.json glycoprotein binding|protein amino acid binding http://purl.obolibrary.org/obo/GO_0005515 goslim_candida|goslim_plant|goslim_pir|goslim_aspergillus|goslim_chembl|goslim_metagenomics CHEBI:33778 biolink:ChemicalSubstance galactonates hp.json http://purl.obolibrary.org/obo/CHEBI_33778 3_STAR PATO:0000069 biolink:NamedThing deviation (from_normal) A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. hp.json http://purl.obolibrary.org/obo/PATO_0000069 attribute_slim HP:0004859 biolink:PhenotypicFeature Amegakaryocytic thrombocytopenia Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. UMLS:C0398639|SNOMEDCT_US:234482009 hp.json http://purl.obolibrary.org/obo/HP_0004859 HP:0004852 biolink:PhenotypicFeature Reduced leukocyte alkaline phosphatase Decreased alkaline phosphatase measured within leukocytes. UMLS:C1850780 hp.json Low leukocyte alkaline phosphatase|Reduced leukocyte ALP http://purl.obolibrary.org/obo/HP_0004852 HP:0004851 biolink:PhenotypicFeature Folate-responsive megaloblastic anemia A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. UMLS:C2749656 hp.json Folate-responsive megaloblastic anaemia http://purl.obolibrary.org/obo/HP_0004851 HP:0004850 biolink:PhenotypicFeature Recurrent deep vein thrombosis Repeated episodes of the formation of a blot clot in a deep vein. UMLS:C1735901|SNOMEDCT_US:710167004 hp.json Recurrent deep vein blood clot|Recurrent venous thrombosis http://purl.obolibrary.org/obo/HP_0004850 HP:0004857 biolink:PhenotypicFeature Hyperchromic macrocytic anemia A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. UMLS:C3854594 hp.json Hyperchromic macrocytic anaemia http://purl.obolibrary.org/obo/HP_0004857 HP:0004856 biolink:PhenotypicFeature Normochromic microcytic anemia A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. SNOMEDCT_US:4984008|UMLS:C0271902 hp.json Normochromic microcytic anaemia http://purl.obolibrary.org/obo/HP_0004856 NCBITaxon:91561 biolink:OrganismalEntity Artiodactyla hp.json http://purl.obolibrary.org/obo/NCBITaxon_91561 HP:0004855 biolink:PhenotypicFeature Reduced protein S activity An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. SNOMEDCT_US:1563006|UMLS:C0242666|MSH:D018455|UMLS:C4025284 hp.json Protein S deficiency http://purl.obolibrary.org/obo/HP_0004855 PATO:0000068 biolink:NamedThing qualitative hp.json http://purl.obolibrary.org/obo/PATO_0000068 HP:0004854 biolink:PhenotypicFeature Intermittent thrombocytopenia Reduced platelet count that occurs sporadically, i.e., it comes and goes. UMLS:C1839167 hp.json http://purl.obolibrary.org/obo/HP_0004854 GO:0005518 biolink:MolecularActivity collagen binding Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). hp.json http://purl.obolibrary.org/obo/GO_0005518 PATO:0000060 biolink:NamedThing spatial pattern A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts. hp.json pattern|distribution http://purl.obolibrary.org/obo/PATO_0000060 hpo_slim|attribute_slim BSPO:0000100 biolink:NamedThing proximal_to x proximal to y iff x is closer to the point of attachment with the body than y. BSPO:0000100 hp.json http://purl.obolibrary.org/obo/BSPO_0000100 BSPO:0000102 biolink:NamedThing ventral_to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). BSPO:0000102 hp.json http://purl.obolibrary.org/obo/BSPO_0000102 HP:0002209 biolink:PhenotypicFeature Sparse scalp hair Decreased number of hairs per unit area of skin of the scalp. UMLS:C1873509|UMLS:C1857042 hp.json Sparse scalp hair|Reduced/lack of hair on scalp|Scalp hypotrichosis|Decreased number of scalp follicles|Reduction in the number of scalp follicles|Reduced amount of scalp hair|Thinning scalp hair|Hypotrichosis on scalp|Thin scalp hair http://purl.obolibrary.org/obo/HP_0002209 BSPO:0000107 biolink:NamedThing deep_to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. BSPO:0000107 hp.json http://purl.obolibrary.org/obo/BSPO_0000107 HP:0002207 biolink:PhenotypicFeature Diffuse reticular or finely nodular infiltrations UMLS:C1843428 hp.json http://purl.obolibrary.org/obo/HP_0002207 HP:0002208 biolink:PhenotypicFeature Coarse hair Hair shafts are rough in texture. UMLS:C0277959|SNOMEDCT_US:48610005|UMLS:C4072834 hp.json Rough hair texture|Coarse hair|Coarse hair texture http://purl.obolibrary.org/obo/HP_0002208 hposlim_core BSPO:0000108 biolink:NamedThing superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. BSPO:0000108 hp.json http://purl.obolibrary.org/obo/BSPO_0000108 HP:0004864 biolink:PhenotypicFeature Refractory sideroblastic anemia A type of sideroblastic anemia that is not responsive to treatment. UMLS:C0002896|MSH:D000756|SNOMEDCT_US:41841004 hp.json Refractory sideroblastic anaemia http://purl.obolibrary.org/obo/HP_0004864 HP:0002202 biolink:PhenotypicFeature Pleural effusion The presence of an excessive amount of fluid in the pleural cavity. UMLS:C0032227|SNOMEDCT_US:60046008|MSH:D010996 hp.json Fluid around lungs http://purl.obolibrary.org/obo/HP_0002202 HP:0004863 biolink:PhenotypicFeature Compensated hemolytic anemia UMLS:C4025283 hp.json Compensated hemolytic anaemia http://purl.obolibrary.org/obo/HP_0004863 HP:0004861 biolink:PhenotypicFeature Refractory macrocytic anemia UMLS:C2675059 hp.json Refractory macrocytic anaemia http://purl.obolibrary.org/obo/HP_0004861 HP:0002200 biolink:PhenotypicFeature Pseudobulbar signs Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. UMLS:C1838579 hp.json Pseudobulbar symptoms http://purl.obolibrary.org/obo/HP_0002200 HP:0002205 biolink:PhenotypicFeature Recurrent respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. UMLS:C3806482 hp.json Frequent respiratory infections|respiratory infections, recurrent|Multiple respiratory infections|Susceptibility to respiratory infections|Recurrent respiratory infections http://purl.obolibrary.org/obo/HP_0002205 HP:0002206 biolink:PhenotypicFeature Pulmonary fibrosis Replacement of normal lung tissues by fibroblasts and collagen. UMLS:C0034069|SNOMEDCT_US:51615001|MSH:D011658 hp.json http://purl.obolibrary.org/obo/HP_0002206 HP:0002203 biolink:PhenotypicFeature Respiratory paralysis Inability to move the muscles of respiration. SNOMEDCT_US:64228003|MSH:D012133|UMLS:C0035232 hp.json http://purl.obolibrary.org/obo/HP_0002203 HP:0004866 biolink:PhenotypicFeature Impaired ADP-induced platelet aggregation Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. UMLS:C4025282 hp.json http://purl.obolibrary.org/obo/HP_0004866 HP:0002204 biolink:PhenotypicFeature Pulmonary embolism An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. SNOMEDCT_US:59282003|UMLS:C0034065|MSH:D011655 hp.json Blood clot in artery of lung http://purl.obolibrary.org/obo/HP_0002204 PATO:0000078 biolink:NamedThing rhythm quality A quality of a single process inhering in a bearer by virtue of the bearer's movement or variation characterized by the regular recurrence or alternation of different quantities or conditions. hp.json http://purl.obolibrary.org/obo/PATO_0000078 attribute_slim HP:0004860 biolink:PhenotypicFeature Thiamine-responsive megaloblastic anemia A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. SNOMEDCT_US:12907000|UMLS:C0271972 hp.json Thiamine-responsive megaloblastic anaemia http://purl.obolibrary.org/obo/HP_0004860 PATO:0000070 biolink:NamedThing amount The number of entities of this type that are part of the whole organism. hp.json quantitative|count in organism|presence|number|presence or absence in organism http://purl.obolibrary.org/obo/PATO_0000070 attribute_slim HP:0031380 biolink:PhenotypicFeature Abnormal B cell proliferation Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/HP_0031380 HP:0031381 biolink:PhenotypicFeature Decreased lymphocyte proliferation in response to mitogen A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA). hp.json Reduced lymphocyte proliferation to mitogen http://purl.obolibrary.org/obo/HP_0031381 UBERON:0014621 biolink:AnatomicalEntity cervical spinal cord ventral horn A ventral horn of spinal cord that is part of a cervical spinal cord. UMLS:C1278740|BIRNLEX:1680|SCTID:174363005|UMLS:C0228615 hp.json cervical spinal cord ventral horn|cervical spinal cord anterior horn http://purl.obolibrary.org/obo/UBERON_0014621 HP:0031386 biolink:PhenotypicFeature Increased micromegakaryocyte count The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter. hp.json http://purl.obolibrary.org/obo/HP_0031386 HP:0031387 biolink:PhenotypicFeature Increased multinucleated megakaryocyte count The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow. hp.json http://purl.obolibrary.org/obo/HP_0031387 HP:0031388 biolink:PhenotypicFeature Megakaryocyte nucleus hyperlobulation The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus. hp.json http://purl.obolibrary.org/obo/HP_0031388 HP:0031389 biolink:PhenotypicFeature Abnormal MHC II surface expression A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. hp.json http://purl.obolibrary.org/obo/HP_0031389 HP:0031382 biolink:PhenotypicFeature Decreased lymphocyte proliferation in response to anti-CD3 A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3. hp.json Defective lymphocyte proliferation to anti-CD3|Defective proliferation of lymphocytes following anti-CD3 stimulation http://purl.obolibrary.org/obo/HP_0031382 HP:0031383 biolink:PhenotypicFeature Abnormal lymphocyte surface marker expression Abnormal amount of a protein that is normally present on the cell surface of lymphocytes. hp.json http://purl.obolibrary.org/obo/HP_0031383 HP:0031384 biolink:PhenotypicFeature Reduced T cell CD40 expression A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes. hp.json http://purl.obolibrary.org/obo/HP_0031384 HP:0031385 biolink:PhenotypicFeature Megakaryocyte nucleus hypolobulation The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. hp.json http://purl.obolibrary.org/obo/HP_0031385 CHEBI:60466 biolink:ChemicalSubstance peptide zwitterion Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. hp.json a peptide|peptide zwitterions http://purl.obolibrary.org/obo/CHEBI_60466 3_STAR UBERON:0014614 biolink:AnatomicalEntity cervical spinal cord white matter A white matter of spinal cord that is part of a cervical spinal cord. BIRNLEX:1531|UMLS:C0228616|SCTID:174829001 hp.json cervical spinal cord white matter http://purl.obolibrary.org/obo/UBERON_0014614 CHEBI:35492 biolink:ChemicalSubstance cystine zwitterion An amino acid zwitterion that is the tautomer of cystine. Gmelin:51007 hp.json 3,3'-disulfanediylbis(2-ammoniopropanoate)|3,3'-dithiobis(2-ammoniopropanoate) http://purl.obolibrary.org/obo/CHEBI_35492 3_STAR HP:0031390 biolink:PhenotypicFeature Reduced MHC II surface expression A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. hp.json http://purl.obolibrary.org/obo/HP_0031390 HP:0031391 biolink:PhenotypicFeature Elevated MHC II surface expression An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface. hp.json http://purl.obolibrary.org/obo/HP_0031391 HP:0031392 biolink:PhenotypicFeature Abnormal proportion of CD4-positive T cells Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells. hp.json Abnormal proportion of CD4+ T cells|Abnormal proportion of CD4-positive, alpha-beta T cells http://purl.obolibrary.org/obo/HP_0031392 HP:0031397 biolink:PhenotypicFeature Decreased proportion of naive T cells An abnormally decreased proportion of naive T cells relative to the total number of T cells. hp.json Reduced proportion of naive T cells|Decreased proportion of naive thymus-derived, alpha-beta T cells http://purl.obolibrary.org/obo/HP_0031397 UBERON:0014610 biolink:AnatomicalEntity thoracic spinal cord ventral horn A ventral horn of spinal cord that is part of a thoracic spinal cord. BIRNLEX:1410|UMLS:C1288552|UMLS:C0228632|SCTID:367876000 hp.json thoracic spinal cord ventral horn|thoracic spinal cord anterior horn http://purl.obolibrary.org/obo/UBERON_0014610 PATO:0000499 biolink:NamedThing decreased duration A duration quality of a process which is relatively low. hp.json shortened period|low period|fast time|decreased period|decreased time http://purl.obolibrary.org/obo/PATO_0000499 value_slim PATO:0000498 biolink:NamedThing increased duration A duration quality of a process which is relatively high. hp.json prolonged period|chronic|increased period|high time|increased time|slow time http://purl.obolibrary.org/obo/PATO_0000498 value_slim HP:0031398 biolink:PhenotypicFeature Increased proportion of naive T cells An abnormally increased proportion of naive T cells relative to the total number of T cells. hp.json Elevated proportion of naive T cells|Increased proportion of naive thymus-derived, alpha-beta T cells http://purl.obolibrary.org/obo/HP_0031398 HP:0031399 biolink:PhenotypicFeature Abnormal proportion of double-negative alpha-beta regulatory T cell An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. hp.json Abnormal DN Treg distribution|Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution|Abnormal Double negative Treg distribution|Abnormal double-negative alpha-beta regulatory T cell distribution http://purl.obolibrary.org/obo/HP_0031399 UBERON:0014613 biolink:AnatomicalEntity cervical spinal cord gray matter A gray matter of spinal cord that is part of a cervical spinal cord. BIRNLEX:1521|UMLS:C0228610|SCTID:362438009 hp.json cervical spinal cord gray matter http://purl.obolibrary.org/obo/UBERON_0014613 HP:0031393 biolink:PhenotypicFeature Abnormal proportion of CD8-positive T cells Any abnormality in the proportion of CD8 T cells relative to the total number of T cells. hp.json Abnormal proportion of CD8-positive, alpha-beta T cells|Abnormal proportion of CD8+ T cells http://purl.obolibrary.org/obo/HP_0031393 HP:0031394 biolink:PhenotypicFeature Abnormal CD4:CD8 ratio Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. hp.json http://purl.obolibrary.org/obo/HP_0031394 HP:0031396 biolink:PhenotypicFeature Abnormal proportion of naive T cells Any abnormality in the proportion of naive T cells relative to the total number of T cells. hp.json Abnormal proportion of naive thymus-derived, alpha-beta T cells|Abnormal naive T cell proportion http://purl.obolibrary.org/obo/HP_0031396 GO:0000820 biolink:BiologicalProcess regulation of glutamine family amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. hp.json regulation of glutamine family amino acid metabolism http://purl.obolibrary.org/obo/GO_0000820 UBERON:0002616 biolink:AnatomicalEntity regional part of brain Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. FMA:55676|NCIT:C13031|SCTID:384763002|BIRNLEX:1167|UMLS:C0445620 hp.json neuroanatomical region|neuraxis segment|brain anatomical structure|brain biological structure|brain part|segment of brain|biological structure of brain|anatomical structure of brain http://purl.obolibrary.org/obo/UBERON_0002616 non_informative CHEBI:35479 biolink:ChemicalSubstance alkali metal salt hp.json http://purl.obolibrary.org/obo/CHEBI_35479 HP:0006397 biolink:PhenotypicFeature Lateral displacement of patellae UMLS:C1860156 hp.json http://purl.obolibrary.org/obo/HP_0006397 HP:0006398 biolink:PhenotypicFeature Flat distal femoral epiphysis An abnormal flattening of the distal epiphysis of femur. UMLS:C4021599 hp.json Flat end part of outermost thighbone|Flattened distal femoral epiphyses http://purl.obolibrary.org/obo/HP_0006398 CHEBI:35470 biolink:ChemicalSubstance central nervous system drug A class of drugs producing both physiological and psychological effects through a variety of mechanisms involving the central nervous system. hp.json CNS drugs|central nervous system agents|CNS agent http://purl.obolibrary.org/obo/CHEBI_35470 3_STAR GO:0048806 biolink:BiologicalProcess genitalia development The process whose specific outcome is the progression of the genitalia over time, from its formation to the mature structure. hp.json genital development http://purl.obolibrary.org/obo/GO_0048806 CHEBI:35472 biolink:ChemicalSubstance anti-inflammatory drug A substance that reduces or suppresses inflammation. hp.json anti-inflammatory drugs|antiinflammatory agent|antiinflammatory drugs|antiinflammatory drug http://purl.obolibrary.org/obo/CHEBI_35472 3_STAR GO:0000821 biolink:BiologicalProcess regulation of arginine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving arginine, 2-amino-5-(carbamimidamido)pentanoic acid. hp.json regulation of arginine metabolism http://purl.obolibrary.org/obo/GO_0000821 HP:0006394 biolink:PhenotypicFeature Limited pronation/supination of forearm A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). UMLS:C1861331 hp.json Limited pronation/supination of forearm http://purl.obolibrary.org/obo/HP_0006394 hposlim_core CHEBI:35471 biolink:ChemicalSubstance psychotropic drug A loosely defined grouping of drugs that have effects on psychological function. Wikipedia:Psychotropic_drug hp.json psychotropic drugs|psychoactive agent|psychoactive drugs|psychopharmaceuticals http://purl.obolibrary.org/obo/CHEBI_35471 3_STAR GO:0048812 biolink:BiologicalProcess neuron projection morphogenesis The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. hp.json neurite morphogenesis|neurite formation|neurite biosynthesis|neurite growth http://purl.obolibrary.org/obo/GO_0048812 CHEBI:35489 biolink:ChemicalSubstance organic disulfide Compounds of structure RSSR in which R and R' are organic groups. hp.json disulfides|an organic disulfide|organic disulfides http://purl.obolibrary.org/obo/CHEBI_35489 3_STAR CHEBI:35488 biolink:ChemicalSubstance central nervous system depressant A loosely defined group of drugs that tend to reduce the activity of the central nervous system. hp.json central nervous system depressants|CNS depressants http://purl.obolibrary.org/obo/CHEBI_35488 3_STAR UBERON:0002610 biolink:AnatomicalEntity cochlear nuclear complex The cochlear nuclei consist of: (a) the dorsal cochlear nucleus, corresponding to the tuberculum acusticum on the dorso-lateral surface of the inferior peduncle; and (b) the ventral or accessory cochlear nucleus, placed between the two divisions of the nerve, on the ventral aspect of the inferior peduncle. [WP,unvetted]. FMA:72240|EV:0100260|BM:Me-Co|BAMS:CN|DHBA:12437|MBA:607|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=720|UMLS:C0152411|BIRNLEX:1151|HBA:9528|UMLS:C0152411 hp.json nuclei cochleares|cochlear nuclei http://purl.obolibrary.org/obo/UBERON_0002610 uberon_slim GO:0048821 biolink:BiologicalProcess erythrocyte development The process whose specific outcome is the progression of an erythrocyte over time, from its formation to the mature structure. hp.json RBC development|red blood cell development http://purl.obolibrary.org/obo/GO_0048821 UBERON:0000017 biolink:AnatomicalEntity exocrine pancreas The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO]. CALOHA:TS-1241|BTO:0000434|EMAPA:35328|UMLS:C0553695|VHOG:0000048|MESH:D046790|XAO:0000137|ZFA:0001249|FMA:16017|AAO:0010407|MA:0002415|EV:0100093|NCIT:C32546|TAO:0001249 hp.json pars exocrina pancreatis|exocrine part of pancreas|exocrine pancreas|exocrine component of pancreas http://purl.obolibrary.org/obo/UBERON_0000017 organ_slim|pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core GO:0048822 biolink:BiologicalProcess enucleate erythrocyte development The process aimed at the progression of an enucleate erythrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. hp.json enucleate red blood cell development|enucleate RBC development http://purl.obolibrary.org/obo/GO_0048822 UBERON:0000018 biolink:AnatomicalEntity compound eye A light sensing organ composed of ommatidia. BTO:0001921|FBbt:00004508|HAO:0000217|Wikipedia:Compound_eye|TGMA:0000024 hp.json Komplexauge|adult compound eye|Facettenauge|zusammengesetztes Auge|insect eye|faceted eye http://purl.obolibrary.org/obo/UBERON_0000018 organ_slim|uberon_slim UBERON:0000019 biolink:AnatomicalEntity camera-type eye An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. NCIT:C12401|EMAPA:16198|FMA:54448|MA:0000261|EHDAA2:0000484|AAO:0010340|BTO:0004688|EHDAA:936|SCTID:181143004|UMLS:C0015392|ZFA:0000107|UMLS:C1280202|BIRNLEX:1169|TAO:0000107|VHOG:0000275|UMLS:C0015392|XAO:0000179|OpenCyc:Mx8Ngx4rwKSh9pwpEbGdrcN5Y29ycB4rvVil5pwpEbGdrcN5Y29ycB4rvViTvpwpEbGdrcN5Y29ycA hp.json eye|eyes|camera-type eye plus associated structures|orbital part of face|regio orbitalis|vertebrate eye|orbital region http://purl.obolibrary.org/obo/UBERON_0000019 pheno_slim|uberon_slim|vertebrate_core GO:0048823 biolink:BiologicalProcess nucleate erythrocyte development The process aimed at the progression of a nucleate erythrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. hp.json nucleate RBC development|nucleate red blood cell development http://purl.obolibrary.org/obo/GO_0048823 HP:0031342 biolink:PhenotypicFeature Duodenal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum. hp.json http://purl.obolibrary.org/obo/HP_0031342 HP:0031343 biolink:PhenotypicFeature Jejunal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum. hp.json http://purl.obolibrary.org/obo/HP_0031343 HP:0031344 biolink:PhenotypicFeature Pelvic arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. hp.json http://purl.obolibrary.org/obo/HP_0031344 UBERON:0014668 biolink:AnatomicalEntity distal interphalangeal joint of manual digit 2 FMA:35334 hp.json distal interphalangeal joint of manual digit II|distal interphalangeal joint of index finger http://purl.obolibrary.org/obo/UBERON_0014668 pheno_slim HP:0031345 biolink:PhenotypicFeature Colonic arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon. hp.json http://purl.obolibrary.org/obo/HP_0031345 HP:0031340 biolink:PhenotypicFeature Abnormal lysosomal morphology A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids. hp.json http://purl.obolibrary.org/obo/HP_0031340 HP:0031341 biolink:PhenotypicFeature Gastric arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach. hp.json http://purl.obolibrary.org/obo/HP_0031341 PATO:0000440 biolink:NamedThing regular spatial pattern A pattern quality inhering in a bearer by virtue of the bearer's having a repeatable or predictable placement. hp.json http://purl.obolibrary.org/obo/PATO_0000440 relational_slim|value_slim|mpath_slim HP:0031346 biolink:PhenotypicFeature Rectal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum. hp.json http://purl.obolibrary.org/obo/HP_0031346 HP:0031347 biolink:PhenotypicFeature Uterine arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus. hp.json http://purl.obolibrary.org/obo/HP_0031347 HP:0031348 biolink:PhenotypicFeature Dextrotransposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. Fyler:0700|Fyler:700 hp.json D-TGA|D-loop transposition of the great arteries http://purl.obolibrary.org/obo/HP_0031348 HP:0031349 biolink:PhenotypicFeature Levotransposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery. hp.json L-TGA http://purl.obolibrary.org/obo/HP_0031349 UBERON:0000025 biolink:AnatomicalEntity tube Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. galen:Tube hp.json duct|anatomical tube http://purl.obolibrary.org/obo/UBERON_0000025 UBERON:0000026 biolink:AnatomicalEntity appendage Major subdivision of an organism that protrudes from the body[DOS, CARO]. NCIT:C61460|BILA:0000018|OpenCyc:Mx4rvViC-JwpEbGdrcN5Y29ycA|MAT:0000023|EV:0100155|UMLS:C0598782|FBbt:00007000|XAO:0000218|CARO:0010003|MIAA:0000023|Wikipedia:Appendage|MESH:D005121|EMAPA:37283|BTO:0001492|VSAO:0000075|EHDAA2:0003193|HAO:0000144|AEO:0000193|EFO:0000799 hp.json extremitaet|extremity|limbs/digits/tail|appendages http://purl.obolibrary.org/obo/UBERON_0000026 pheno_slim|efo_slim|uberon_slim UBERON:0000020 biolink:AnatomicalEntity sense organ An organ that is capable of transducing sensory stimulus to the nervous system. EMAPA:35955|BTO:0000202|BSA:0000121|UMLS:C0935626|GAID:63|HAO:0000930|MA:0000017|EHDAA2:0001824|SCTID:244485009|MESH:D012679|WBbt:0006929|EHDAA:500|AEO:0000094|NCIT:C33224|CALOHA:TS-2043|VHOG:0001407|FBbt:00005155 hp.json sensor|sensillum|Sinnesorgan|sense organ system organ|sensory system organ|sensory organ system organ|sensory organ|organ of sensory system|organ of sense organ system|organ of sensory organ system http://purl.obolibrary.org/obo/UBERON_0000020 uberon_slim UBERON:0002682 biolink:AnatomicalEntity abducens nucleus Nucleus located beneath the floor of the 4th ventricle in the pontine tegmentum, containing motor neurons innervating the lateral rectus muscle of the eye (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533). MBA:653|UMLS:C0152407|MESH:D065827|EHDAA2:0004310|ZFA:0000713|UMLS:C0152407|EMAPA:35105|DHBA:12418|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=585|NCIT:C12836|TAO:0000713|BAMS:6|BIRNLEX:1366|HBA:9136|BM:Pons-VI|DMBA:17279|FMA:54504|MA:0001010|EV:0100266|BAMS:VI hp.json abducens motor nuclei|abducens VI nucleus|nucleus of abducens nerve (VI)|nucleus of abducens nerve|nucleus nervi abducentis|abducent nucleus|nucleus abducens|sixth cranial nerve nucleus|nucleus nervi abducentis|abducens motor nucleus|nVI|abducens nerve nucleus|abducens nucleus proper|motor nucleus VI http://purl.obolibrary.org/obo/UBERON_0002682 uberon_slim|vertebrate_core UBERON:0000021 biolink:AnatomicalEntity cutaneous appendage Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales. FMA:71012|CALOHA:TS-0051 hp.json epidermal appendage|skin appendage|epidermal growth http://purl.obolibrary.org/obo/UBERON_0000021 uberon_slim GO:1902904 biolink:BiologicalProcess negative regulation of supramolecular fiber organization Any process that stops, prevents or reduces the frequency, rate or extent of fibril organization. hp.json inhibition of fibril organisation|down regulation of fibril organisation|down-regulation of fibril organization|downregulation of fibril organisation|inhibition of fibril organization|down regulation of fibril organization|downregulation of fibril organization|negative regulation of fibril organisation|down-regulation of fibril organisation http://purl.obolibrary.org/obo/GO_1902904 GO:1902905 biolink:BiologicalProcess positive regulation of supramolecular fiber organization Any process that activates or increases the frequency, rate or extent of supramolecular fiber organization. hp.json up regulation of fibril organization|upregulation of fibril organization|up-regulation of fibril organisation|activation of fibril organisation|up regulation of fibril organisation|positive regulation of fibril organisation|up-regulation of fibril organization|activation of fibril organization|upregulation of fibril organisation http://purl.obolibrary.org/obo/GO_1902905 UBERON:0000006 biolink:AnatomicalEntity islet of Langerhans The clusters of hormone-producing cells that are scattered throughout the pancreas. EFO:0000856|UMLS:C0022131|MESH:D007515|VHOG:0000646|MAT:0000076|EV:0100130|BTO:0000991|NCIT:C12608|CALOHA:TS-0741|MIAA:0000076|XAO:0000159|MA:0000127|AAO:0010406|FMA:16016|GAID:324|EMAPA:32927 hp.json islets of Langerhans|pancreatic islet|pancreatic insula|island of pancreas|island of Langerhans http://purl.obolibrary.org/obo/UBERON_0000006 pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0000007 biolink:AnatomicalEntity pituitary gland The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. BTO:0001073|AAO:0010536|EFO:0000857|BIRNLEX:1353|UMLS:C0032005|MA:0000176|NCIT:C12399|EHDAA:4477|FMA:13889|MAT:0000077|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=399|OpenCyc:Mx4rv6NQYJwpEbGdrcN5Y29ycA|HBA:4634|BAMS:PIT|EV:0100132|EMAPA:35998|BAMS:Pit|EHDAA2:0001471|DHBA:10505|CALOHA:TS-0798|EHDAA:2183|MESH:D010902|ZFA:0000118|MIAA:0000077|XAO:0000017|BM:Die-Hy-HY|GAID:457|VHOG:0000143|TAO:0000118|UMLS:C0032005 hp.json glandula pituitaria|pituitary|hypophysis|hypophysis cerebri|pituitary body|Hp http://purl.obolibrary.org/obo/UBERON_0000007 vertebrate_core|organ_slim|pheno_slim|efo_slim|uberon_slim GO:1902903 biolink:BiologicalProcess regulation of supramolecular fiber organization Any process that modulates the frequency, rate or extent of supramolecular fiber organization. hp.json regulation of fibril organisation http://purl.obolibrary.org/obo/GO_1902903 UBERON:0000009 biolink:AnatomicalEntity submucosa A layer of dense irregular connective tissue that lines organs and supports the mucosa, as well as joins the mucosa to the bulk of underlying smooth muscle. [WP,unvetted]. Wikipedia:Submucosa|FMA:85392|FMA:85391|SCTID:68439008|BTO:0002107|UMLS:C0225344|NCIT:C13167 hp.json tela submucosa|submucosa of region of organ|submucosa of organ|tunica submucosa|region of submucosa|submucous layer|organ submucosa http://purl.obolibrary.org/obo/UBERON_0000009 pheno_slim|uberon_slim HP:0031353 biolink:PhenotypicFeature Otitis media with effusion Otitis media characterized by thick or sticky fluid behind the tympanic membrane. hp.json Fluid behind eardrum http://purl.obolibrary.org/obo/HP_0031353 HP:0031354 biolink:PhenotypicFeature Sleep onset insomnia Difficulty initiating sleep, that is, increased sleep onset latency. hp.json Difficulty falling asleep http://purl.obolibrary.org/obo/HP_0031354 HP:0031355 biolink:PhenotypicFeature Maintenance insomnia Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep. hp.json Waking up several times during the night http://purl.obolibrary.org/obo/HP_0031355 HP:0031356 biolink:PhenotypicFeature Terminal insomnia A type of insomnia characterized by waking up (too) early in the morning. hp.json Late insomnia http://purl.obolibrary.org/obo/HP_0031356 HP:0031350 biolink:PhenotypicFeature Cardiac sarcoma A malignant soft tissue neoplasm that arises from the heart. hp.json http://purl.obolibrary.org/obo/HP_0031350 HP:0031351 biolink:PhenotypicFeature Calcified amorphous tumor of the heart A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue. hp.json Calcified amorphous tumour of the heart http://purl.obolibrary.org/obo/HP_0031351 HP:0031352 biolink:PhenotypicFeature Chest tightness An unpleasant sensation of tightness or pressure in the chest. hp.json Tightness of chest|Chest distress|Tightness in chest http://purl.obolibrary.org/obo/HP_0031352 CHEBI:35469 biolink:ChemicalSubstance antidepressant Antidepressants are mood-stimulating drugs used primarily in the treatment of affective disorders and related conditions. hp.json thymoleptic drugs|thymoanaleptics|antidepressants|antidepressant drugs|thymoleptics http://purl.obolibrary.org/obo/CHEBI_35469 3_STAR HP:0031357 biolink:PhenotypicFeature Glomeruloid hemangioma A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli. hp.json http://purl.obolibrary.org/obo/HP_0031357 HP:0031358 biolink:PhenotypicFeature Vegetative state Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities). hp.json http://purl.obolibrary.org/obo/HP_0031358 GO:0000819 biolink:BiologicalProcess sister chromatid segregation The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets. hp.json http://purl.obolibrary.org/obo/GO_0000819 HP:0031359 biolink:PhenotypicFeature Cutaneous sclerotic plaque A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening). hp.json http://purl.obolibrary.org/obo/HP_0031359 UBERON:0014649 biolink:AnatomicalEntity white matter of medulla oblongata A white matter that is part of a medulla oblongata. BIRNLEX:1024|BAMS:mw|FMA:83944|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=778|BIRNLEX:1414 hp.json white matter of medulla|white substance of medulla|substantia alba medullae oblongatae|medullary white matter http://purl.obolibrary.org/obo/UBERON_0014649 UBERON:0000013 biolink:AnatomicalEntity sympathetic nervous system The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO]. EHDAA2:0001971|Wikipedia:Sympathetic_nervous_system|NCIT:C12795|AAO:0010487|BTO:0001832|UMLS:C0039044|SCTID:362484004|MESH:D013564|CALOHA:TS-2050|FMA:9906|UMLS:C1269646|BIRNLEX:2516|EFO:0000893|MIAA:0000100|EMAPA:16985|GAID:710|EHDAA:3769|VHOG:0000384|MA:0000225|ZFA:0001576|UMLS:C0039044|TAO:0001576 hp.json pars sympathica divisionis autonomici systematis nervosi|sympathetic nervous system|pars sympathica divisionis autonomici systematis nervosi|pars sympathica divisionis autonomici systematis nervosi|sympathetic part of autonomic division of nervous system http://purl.obolibrary.org/obo/UBERON_0000013 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0000014 biolink:AnatomicalEntity zone of skin Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. MA:0000151|SCTID:20795001|OpenCyc:Mx4rvVjX3ZwpEbGdrcN5Y29ycA|EHDAA:6530|MAT:0000284|EV:0100152|GAID:933|FMA:86166|VHOG:0000860|EMAPA:17525|MIAA:0000284|Wikipedia:Skin|MESH:D012867|EHDAA2:0001844 hp.json region of skin|skin|skin region|skin zone|portion of skin http://purl.obolibrary.org/obo/UBERON_0000014 pheno_slim UBERON:0000015 biolink:AnatomicalEntity non-material anatomical boundary A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. AEO:0000192|FMA:50705|CARO:0000010 hp.json anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000015 upper_level UBERON:0000016 biolink:AnatomicalEntity endocrine pancreas The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. MA:0001582|EMAPA:35305|NCIT:C32509|ZFA:0001260|VHOG:0000049|EFO:0002542|BTO:0000650|TAO:0001260|CALOHA:TS-1302|FMA:16018|EV:0100129 hp.json pars endocrina pancreatis|endocrine part of pancreas|endocrine pancreas|islets of Langerhans part of pancreas http://purl.obolibrary.org/obo/UBERON_0000016 organ_slim|pheno_slim|human_reference_atlas|efo_slim|uberon_slim|vertebrate_core UBERON:0000010 biolink:AnatomicalEntity peripheral nervous system A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. EHDAA:2893|NCIT:C12465|BTO:0001028|TAO:0000142|GAID:715|FBbt:00005098|EFO:0000891|MA:0000218|FMA:9903|VHOG:0000399|BAMS:PNS|EMAPA:16665|AAO:0000429|UMLS:C0206417|CALOHA:TS-0808|MAT:0000338|XAO:0000178|SCTID:362292005|BIRNLEX:1111|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=3232|UMLS:C0206417|Wikipedia:Peripheral_nervous_system|EHDAA2:0001445|EV:0100335|BILA:0000081|UMLS:C1305921|MESH:D017933|MIAA:0000338|ZFA:0000142 hp.json pars peripherica|PNS|systema nervosum periphericum|systema nervosum periphericum|pars peripherica http://purl.obolibrary.org/obo/UBERON_0000010 pheno_slim|efo_slim|human_reference_atlas|uberon_slim|cumbo|vertebrate_core UBERON:0000011 biolink:AnatomicalEntity parasympathetic nervous system The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia[GO]. BTO:0001833|AAO:0010488|TAO:0001575|GAID:708|Wikipedia:Parasympathetic_nervous_system|UMLS:C0030510|SCTID:362496006|MAT:0000101|MESH:D010275|EFO:0000894|CALOHA:TS-2094|BIRNLEX:2517|VHOG:0000755|FMA:9907|UMLS:C0030510|EMAPA:17270|EHDA:10096|MIAA:0000101|ZFA:0001575|MA:0000223|EHDAA2:0001402|EHDAA:4655|NCIT:C12764|UMLS:C1305770 hp.json PNS - parasympathetic|pars parasympathica divisionis autonomici systematis nervosi|parasympathetic part of autonomic division of nervous system|pars parasympathica divisionis autonomici systematis nervosi|pars parasympathica divisionis autonomici systematis nervosi http://purl.obolibrary.org/obo/UBERON_0000011 pheno_slim|efo_slim|uberon_slim|vertebrate_core GO:1902908 biolink:BiologicalProcess regulation of melanosome transport Any process that modulates the frequency, rate or extent of melanosome transport. hp.json http://purl.obolibrary.org/obo/GO_1902908 UBERON:0002673 biolink:AnatomicalEntity vestibular nuclear complex Nuclear complex containing the vestibular nuclei. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=714|EV:0100254|BAMS:VNC|BAMS:Ve|BTO:0004368|BIRNLEX:1337|BM:Me-VS|GAID:602|MESH:D014726|HBA:9697|FMA:72239|UMLS:C0042600|CALOHA:TS-2078|MBA:701 hp.json vestibular nuclei|nuclei vestibulares|vestibular nucleus|vestibular nuclei in medulla oblongata|nuclei vestibulares in medulla oblongata http://purl.obolibrary.org/obo/UBERON_0002673 uberon_slim GO:1902909 biolink:BiologicalProcess negative regulation of melanosome transport Any process that stops, prevents or reduces the frequency, rate or extent of melanosome transport. hp.json downregulation of melanosome transport|down regulation of melanosome transport|inhibition of melanosome transport|down-regulation of melanosome transport http://purl.obolibrary.org/obo/GO_1902909 UBERON:0000012 biolink:AnatomicalEntity somatic nervous system Part of peripheral nervous system that includes the somatic parts of the cranial and spinal nerves and their ganglia and the peripheral sensory receptors. MAT:0000099|EFO:0000892|FMA:9904|NLXANAT:100301|MIAA:0000099|Wikipedia:Somatic_nervous_system|MA:0002850 hp.json PNS - somatic|somatic nervous system, somatic division|somatic part of peripheral nervous system|somatic peripheral nervous system http://purl.obolibrary.org/obo/UBERON_0000012 pheno_slim|uberon_slim GO:1902913 biolink:BiologicalProcess positive regulation of neuroepithelial cell differentiation Any process that activates or increases the frequency, rate or extent of neuroepithelial cell differentiation. hp.json up regulation of neuroepithelial cell differentiation|activation of neuroepithelial cell differentiation|up-regulation of neuroepithelial cell differentiation|upregulation of neuroepithelial cell differentiation http://purl.obolibrary.org/obo/GO_1902913 GO:0048844 biolink:BiologicalProcess artery morphogenesis The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs. hp.json arteriogenesis|arterial morphogenesis http://purl.obolibrary.org/obo/GO_0048844 GO:0048845 biolink:BiologicalProcess venous blood vessel morphogenesis The process in which the anatomical structures of venous blood vessels are generated and organized. Veins are blood vessels that transport blood from the body and its organs to the heart. hp.json vein morphogenesis|venous morphogenesis http://purl.obolibrary.org/obo/GO_0048845 HP:0031364 biolink:PhenotypicFeature Ecchymosis A purpuric lesion that is larger than 1 cm in diameter. hp.json Ecchymoses http://purl.obolibrary.org/obo/HP_0031364 HP:0031365 biolink:PhenotypicFeature Macular purpura Purpura that is flat (non-palpable, not raised). hp.json Flat purpura http://purl.obolibrary.org/obo/HP_0031365 GO:1902910 biolink:BiologicalProcess positive regulation of melanosome transport Any process that activates or increases the frequency, rate or extent of melanosome transport. hp.json upregulation of melanosome transport|up regulation of melanosome transport|up-regulation of melanosome transport|activation of melanosome transport http://purl.obolibrary.org/obo/GO_1902910 HP:0031366 biolink:PhenotypicFeature Palate neoplasm A neoplasm that affects the hard palate, soft palate, or uvula. hp.json http://purl.obolibrary.org/obo/HP_0031366 PATO:0000467 biolink:NamedThing present A quality inhering in a bearer by virtue of the bearer's existence. hp.json present in organism http://purl.obolibrary.org/obo/PATO_0000467 value_slim|absent_slim HP:0031367 biolink:PhenotypicFeature Metaphyseal striations Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). hp.json Striated metaphysis http://purl.obolibrary.org/obo/HP_0031367 HP:0031360 biolink:PhenotypicFeature Yellow skin plaque A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color. hp.json http://purl.obolibrary.org/obo/HP_0031360 HP:0031361 biolink:PhenotypicFeature Zebra bodies Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images. hp.json http://purl.obolibrary.org/obo/HP_0031361 HP:0031362 biolink:PhenotypicFeature obsolete Sex-limited autosomal recessive inheritance hp.json http://purl.obolibrary.org/obo/HP_0031362 HP:0031363 biolink:PhenotypicFeature Palpable purpura A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation). hp.json http://purl.obolibrary.org/obo/HP_0031363 PATO:0000460 biolink:NamedThing abnormal A quality inhering in a bearer by virtue of the bearer's deviation from normal or average. hp.json defective|aberrant|atypia|atypical http://purl.obolibrary.org/obo/PATO_0000460 mpath_slim|abnormal_slim|value_slim PATO:0000462 biolink:NamedThing absent A quality denoting the lack of an entity. hp.json absent from organism|absence http://purl.obolibrary.org/obo/PATO_0000462 absent_slim|mpath_slim|value_slim UBERON:0014636 biolink:AnatomicalEntity thoracic spinal cord gray matter A gray matter of spinal cord that is part of a thoracic spinal cord. UMLS:C0228627|BIRNLEX:980|SCTID:362441000 hp.json thoracic spinal cord gray matter http://purl.obolibrary.org/obo/UBERON_0014636 HP:0031368 biolink:PhenotypicFeature Intestinal perforation A hole (perforation) in the wall of the intestine. hp.json http://purl.obolibrary.org/obo/HP_0031368 PATO:0000461 biolink:NamedThing normal A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. hp.json average http://purl.obolibrary.org/obo/PATO_0000461 mpath_slim|abnormal_slim|value_slim HP:0031369 biolink:PhenotypicFeature Colon perforation A hole (perforation) in the wall of the colon. hp.json Perforation of the colon http://purl.obolibrary.org/obo/HP_0031369 UBERON:0014637 biolink:AnatomicalEntity thoracic spinal cord white matter A white matter of spinal cord that is part of a thoracic spinal cord. UMLS:C0228633|BIRNLEX:999|UMLS:C1288557|SCTID:367881009 hp.json thoracic spinal cord white matter http://purl.obolibrary.org/obo/UBERON_0014637 UBERON:0014639 biolink:AnatomicalEntity frontal sulcus A sulcus of brain that is part of a frontal cortex. UMLS:C0459388|HBA:9354|NCIT:C32639 hp.json frontal lobe sulci|frontal lobe sulcus http://purl.obolibrary.org/obo/UBERON_0014639 UBERON:0000002 biolink:AnatomicalEntity uterine cervix Lower, narrow portion of the uterus where it joins with the top end of the vagina. EV:0100114|galen:CervixUteri|NCIT:C12311|BTO:0002249|EMAPA:29927|MA:0000392|VHOG:0001359|MESH:D002584|BTO:0001421|MAT:0000292|CALOHA:TS-0134|EFO:0000979|OpenCyc:Mx4rvVipEJwpEbGdrcN5Y29ycA|UMLS:C0007874|FMA:17740|GAID:376 hp.json cervix|canalis cervicis uteri|neck of uterus|uterine cervix|cervical canal|cervix uteri|cervix of uterus|caudal segment of uterus|cervical canal of uterus http://purl.obolibrary.org/obo/UBERON_0000002 pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0000003 biolink:AnatomicalEntity naris Orifice of the olfactory system. The naris is the route by which odorants enter the olfactory system[MAH]. EHDAA:9083|EHDAA2:0001225|galen:Naris|AAO:0000311|MA:0000282|EMAPA:17847|VHOG:0000663 hp.json http://purl.obolibrary.org/obo/UBERON_0000003 uberon_slim|vertebrate_core UBERON:0000004 biolink:AnatomicalEntity nose The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity. FMA:46472|MAT:0000139|TAO:0000047|EV:0100037|MIAA:0000139|BTO:0000840|UMLS:C0028429|EHDAA2:0001274|GAID:77|MA:0000281|OpenCyc:Mx4rvViCbJwpEbGdrcN5Y29ycA|MESH:D009666|EV:0100370|galen:Nose|CALOHA:TS-2037|EHDAA:1502|NCIT:C12756|EMAPA:16542|ZFA:0000047 hp.json peripheral olfactory organ|nose|olfactory apparatus|nasal sac|nasus|proboscis http://purl.obolibrary.org/obo/UBERON_0000004 pheno_slim|efo_slim|uberon_slim|major_organ|vertebrate_core UBERON:0000005 biolink:AnatomicalEntity chemosensory organ FBbt:00005157 hp.json chemosensory sensory organ http://purl.obolibrary.org/obo/UBERON_0000005 functional_classification|uberon_slim UBERON:0002663 biolink:AnatomicalEntity septal nuclear complex Collection of nerve cells in the medial forebrain lying generally in front of the anterior commissure (Maryann Martone). MESH:D012686|DHBA:10350|UMLS:C0036687|GAID:637|EHDAA2:0004709|BIRNLEX:1313|EMAPA:35763|MA:0002978|FMA:61845|HBA:13002|BAMS:SptN hp.json parolfactory nuclei|septal nuclei|septal nucleus|nuclei septales http://purl.obolibrary.org/obo/UBERON_0002663 uberon_slim UBERON:0000000 biolink:AnatomicalEntity processual entity An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. hp.json http://purl.obolibrary.org/obo/UBERON_0000000 upper_level GO:0048852 biolink:BiologicalProcess diencephalon morphogenesis The process in which the anatomical structures of the diencephalon are generated and organized. The diencephalon is the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex. hp.json http://purl.obolibrary.org/obo/GO_0048852 GO:0048853 biolink:BiologicalProcess forebrain morphogenesis The process in which the anatomical structures of the forebrain are generated and organized. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). hp.json prosencephalon morphogenesis http://purl.obolibrary.org/obo/GO_0048853 HP:0031370 biolink:PhenotypicFeature Small intestinal perforation A hole (perforation) in the wall of the small intestine. hp.json http://purl.obolibrary.org/obo/HP_0031370 GO:0048854 biolink:BiologicalProcess brain morphogenesis The process in which the anatomical structures of the brain are generated and organized. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). hp.json http://purl.obolibrary.org/obo/GO_0048854 GO:0048856 biolink:BiologicalProcess anatomical structure development The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. hp.json development of an anatomical structure http://purl.obolibrary.org/obo/GO_0048856 goslim_plant|goslim_chembl|goslim_generic GO:0048857 biolink:BiologicalProcess neural nucleus development The biological process whose specific outcome is the progression of a neural nucleus from its initial condition to its mature state. A neural nucleus is an anatomical structure consisting of a discrete aggregate of neuronal soma. hp.json http://purl.obolibrary.org/obo/GO_0048857 HP:0031375 biolink:PhenotypicFeature Refractory Applies to a sign or symptom that is difficult to treat or cure. hp.json http://purl.obolibrary.org/obo/HP_0031375 HP:0031377 biolink:PhenotypicFeature Abnormal cell proliferation Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/HP_0031377 HP:0031378 biolink:PhenotypicFeature Abnormal lymphocyte proliferation Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/HP_0031378 HP:0031371 biolink:PhenotypicFeature Rectal perforation A hole (perforation) in the wall of the rectum. hp.json http://purl.obolibrary.org/obo/HP_0031371 HP:0031372 biolink:PhenotypicFeature Cold paresis Increased muscle weakness upon exposure to cold temperatures. hp.json http://purl.obolibrary.org/obo/HP_0031372 HP:0031373 biolink:PhenotypicFeature Stiff tongue Increased rigidity and reduced mobility of the tongue. hp.json Tongue stiffness http://purl.obolibrary.org/obo/HP_0031373 HP:0031374 biolink:PhenotypicFeature Ankle weakness Reduced strength of the muscles that lift or otherwise move the foot at the ankle. hp.json http://purl.obolibrary.org/obo/HP_0031374 CHEBI:84497 biolink:ChemicalSubstance (omega-1)-hydroxy fatty acid anion A hydroxy fatty acid anion obtained by deprotonation of the carboxy group of any (omega-1)-hydroxy fatty acid; major species at pH 7.3. hp.json an (omega-1)-hydroxy fatty acid|(omega-1)-hydroxy fatty acid anion http://purl.obolibrary.org/obo/CHEBI_84497 3_STAR PATO:0000470 biolink:NamedThing increased amount An amount which is relatively high. hp.json supernumerary|accessory|increased|present in greater numbers in organism|increased number http://purl.obolibrary.org/obo/PATO_0000470 value_slim HP:0031379 biolink:PhenotypicFeature Abnormal T cell proliferation Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/HP_0031379 GO:0048858 biolink:BiologicalProcess cell projection morphogenesis The process in which the anatomical structures of a cell projection are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0048858 GO:0048859 biolink:BiologicalProcess formation of anatomical boundary The process in which the limits of an anatomical structure are generated. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. hp.json http://purl.obolibrary.org/obo/GO_0048859 CHEBI:35441 biolink:ChemicalSubstance antiinfective agent A substance used in the prophylaxis or therapy of infectious diseases. hp.json antiinfective drug|antiinfective agents|anti-infective drugs|anti-infective agents http://purl.obolibrary.org/obo/CHEBI_35441 3_STAR PATO:0000407 biolink:NamedThing flat A quality inhering in a bearer by virtue of the bearer's having a horizontal surface without a slope, tilt, or curvature. hp.json plate-like http://purl.obolibrary.org/obo/PATO_0000407 mpath_slim|cell_quality|value_slim HP:0033961 biolink:PhenotypicFeature Cortical radial artery intima/media multilamellation Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. hp.json Multilamellation (onion skinning) within interlobular arterial intima/media|Cortical radial artery intima/media onion skinning http://purl.obolibrary.org/obo/HP_0033961 HP:0033960 biolink:PhenotypicFeature Cortical radial artery intimal mucoid edema Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. hp.json Intimal mucoid edema within interlobular arterial intima/media http://purl.obolibrary.org/obo/HP_0033960 GO:0034219 biolink:BiologicalProcess carbohydrate transmembrane transport The process in which a carbohydrate is transported across a membrane. hp.json transmembrane carbohydrate transport|carbohydrate membrane transport http://purl.obolibrary.org/obo/GO_0034219 HP:0031300 biolink:PhenotypicFeature Abnormal circulating properdin level A deviation from the normal concentration of properdin in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031300 PATO:0000402 biolink:NamedThing branched A branchiness quality inhering in a bearer by virtue of the bearer's having branches. hp.json ramiform|ramified http://purl.obolibrary.org/obo/PATO_0000402 value_slim|mpath_slim|cell_quality HP:0033963 biolink:PhenotypicFeature Abnormal interlobular vein intima/media morphology Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033963 HP:0031301 biolink:PhenotypicFeature Peripheral arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall. hp.json Peripheral artery calcification http://purl.obolibrary.org/obo/HP_0031301 HP:0033962 biolink:PhenotypicFeature Cortical radial artery medial/intimal granulomatous arteriitis A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. hp.json http://purl.obolibrary.org/obo/HP_0033962 PATO:0000404 biolink:NamedThing coiled A shape quality inhering in a bearer by virtue of the bearer's being curled or wound (especially in concentric rings or spirals). hp.json spiral|helical|helix-shaped|helicoid|helicoidal http://purl.obolibrary.org/obo/PATO_0000404 cell_quality|value_slim|mpath_slim PATO:0000403 biolink:NamedThing cleft A concave quality inhering in a bearer by virtue of the bearer's resembling a groove or fissure. hp.json http://purl.obolibrary.org/obo/PATO_0000403 cell_quality|value_slim|mpath_slim PATO:0000406 biolink:NamedThing curved A curvature quality inhering in a bearer by virtue of the bearer's having or being marked by a curve or smoothly rounded bend. hp.json bowing|curled http://purl.obolibrary.org/obo/PATO_0000406 cell_quality|value_slim PATO:0000405 biolink:NamedThing curled A shape quality inhering in a bearer by virtue of the bearer's having parallel chains in undulate fashion on the border. hp.json http://purl.obolibrary.org/obo/PATO_0000405 cell_quality|value_slim|mpath_slim HP:0006339 biolink:PhenotypicFeature Conical mandibular incisor An abnormal conical morphology of the primary or permanent mandibular incisors. UMLS:C4280449|UMLS:C4280450|UMLS:C4020818 hp.json Pointed mandibular incisor|Peg shaped mandibular incisor|Cone shaped lower front tooth|Conoid mandibular incisor|Pointed mandibular incisors|Peg shaped lower front tooth|Lower front shark tooth http://purl.obolibrary.org/obo/HP_0006339 HP:0033969 biolink:PhenotypicFeature Interlobular vein intima/media necrosis Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. hp.json Necrosis within interlobular vein intima/media http://purl.obolibrary.org/obo/HP_0033969 HP:0031306 biolink:PhenotypicFeature Intracranial arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial). hp.json http://purl.obolibrary.org/obo/HP_0031306 GO:0010243 biolink:BiologicalProcess response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. hp.json response to organic nitrogen http://purl.obolibrary.org/obo/GO_0010243 HP:0033968 biolink:PhenotypicFeature Interlobular vein intima/media granulomatous venulitis A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. hp.json Granulomatous venulitis within interlobular vein intima/media http://purl.obolibrary.org/obo/HP_0033968 HP:0031307 biolink:PhenotypicFeature Internal carotid artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery. hp.json http://purl.obolibrary.org/obo/HP_0031307 HP:0031308 biolink:PhenotypicFeature Vertebral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery. hp.json http://purl.obolibrary.org/obo/HP_0031308 HP:0031309 biolink:PhenotypicFeature Cerebral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery. hp.json http://purl.obolibrary.org/obo/HP_0031309 HP:0006335 biolink:PhenotypicFeature Persistence of primary teeth Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. SNOMEDCT_US:57650002|UMLS:C0266050 hp.json Deciduous teeth retention|Retained primary teeth|Persistence of deciduous teeth|Retained baby teeth|Failure to lose baby teeth|Failure to exfoliate deciduous teeth|Retained deciduous teeth|Persistent primary teeth|Delayed loss of baby teeth|Delayed loss of primary teeth|Persistent primary dentition|Failure to exfoliate primary teeth|Delayed loss of deciduous teeth|Persistent deciduous dentition http://purl.obolibrary.org/obo/HP_0006335 HP:0031302 biolink:PhenotypicFeature Lower extremity peripheral arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg. hp.json Lower extremity peripheral artery calcification http://purl.obolibrary.org/obo/HP_0031302 HP:0008998 biolink:PhenotypicFeature Pectoralis hypoplasia Underdevelopment of the pectoral muscle. UMLS:C1846477 hp.json Underdeveloped pec muscle|Small pec muscle|Hypoplastic pectoral muscle http://purl.obolibrary.org/obo/HP_0008998 HP:0033965 biolink:PhenotypicFeature Interlobular vein intimal mucoid edema Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. hp.json Intimal mucoid edema within interlobular veins http://purl.obolibrary.org/obo/HP_0033965 HP:0008997 biolink:PhenotypicFeature Proximal muscle weakness in upper limbs A lack of strength of the proximal muscles of the arms. UMLS:C1866012 hp.json http://purl.obolibrary.org/obo/HP_0008997 HP:0031303 biolink:PhenotypicFeature Femoral arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery. hp.json http://purl.obolibrary.org/obo/HP_0031303 HP:0006336 biolink:PhenotypicFeature Short dental root Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. UMLS:C2678330 hp.json Underdeveloped tooth roots|Decreased length of tooth roots|Rhizomicry|Dental root hypoplasia|Underdeveloped dental roots|Decreased length of dental roots|Dental root hypotrophy|Root dwarfism|Short dental roots|Short tooth roots http://purl.obolibrary.org/obo/HP_0006336 HP:0033964 biolink:PhenotypicFeature Interlobular intima/media venosclerosis Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. hp.json Venosclerosis within interlobular vein intima/media http://purl.obolibrary.org/obo/HP_0033964 HP:0006337 biolink:PhenotypicFeature Premature eruption of permanent teeth Premature tooth eruption of the permanent dentition. UMLS:C4021601 hp.json Early eruption of permanent teeth|Early eruption of adult teeth|Premature eruption of adult teeth|Precocious eruption of secondary teeth|Precocious eruption of secondary dentition http://purl.obolibrary.org/obo/HP_0006337 hposlim_core HP:0033967 biolink:PhenotypicFeature Interlobular vein intima/media venulitis Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. hp.json Venulitis within interlobular vein intima/media http://purl.obolibrary.org/obo/HP_0033967 HP:0031304 biolink:PhenotypicFeature Iliac arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery. hp.json http://purl.obolibrary.org/obo/HP_0031304 GO:0009259 biolink:BiologicalProcess ribonucleotide metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. hp.json ribonucleotide metabolism http://purl.obolibrary.org/obo/GO_0009259 HP:0031305 biolink:PhenotypicFeature Tibial arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery. hp.json http://purl.obolibrary.org/obo/HP_0031305 HP:0006338 biolink:PhenotypicFeature Malformation of mandibular premolar An abnormality of the morphology of secondary premolar tooth. UMLS:C4025061 hp.json Malformation of lower premolar|Malformation of mandibular bicuspid http://purl.obolibrary.org/obo/HP_0006338 HP:0033966 biolink:PhenotypicFeature Interlobular vein intima/media amyloidosis Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy hp.json Amyloidosis within interlobular vein intima/media http://purl.obolibrary.org/obo/HP_0033966 HP:0008994 biolink:PhenotypicFeature Proximal muscle weakness in lower limbs A lack of strength of the proximal muscles of the legs. UMLS:C1866010 hp.json Muscle weakness, proximal, lower limbs http://purl.obolibrary.org/obo/HP_0008994 HP:0008993 biolink:PhenotypicFeature Increased intraabdominal fat An abnormal increase in the amount of intraabdominal fat tissue. UMLS:C1835390 hp.json http://purl.obolibrary.org/obo/HP_0008993 HP:0006332 biolink:PhenotypicFeature Supernumerary maxillary incisor The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. UMLS:C4025062 hp.json Extra upper front tooth http://purl.obolibrary.org/obo/HP_0006332 HP:0006333 biolink:PhenotypicFeature Crowded maxillary incisors A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. UMLS:C4021602 hp.json Overlapped maxillary incisors|Crowded upper front teeth|Overlapped upper front teeth|Crowded upper incisors http://purl.obolibrary.org/obo/HP_0006333 HP:0006334 biolink:PhenotypicFeature Hypoplasia of the primary teeth Developmental hypoplasia of the primary teeth. UMLS:C1855694 hp.json Small primary teeth|Decreased size of baby teeth|Underdevelopment of primary teeth|Underdevelopment of milk teeth|Small milk teeth|Decreased size of deciduous teeth|Underdevelopment of baby teeth|Decreased size of primary teeth|Decreased size of milk teeth|Small baby teeth|Hypoplastic deciduous teeth http://purl.obolibrary.org/obo/HP_0006334 HP:0006330 biolink:PhenotypicFeature Rotated maxillary central incisors UMLS:C4025063 hp.json Turned upper front teeth|Rotated upper front teeth|Twisted upper front teeth|Rotated upper central incisors http://purl.obolibrary.org/obo/HP_0006330 HP:0008991 biolink:PhenotypicFeature Exercise-induced leg cramps Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion. UMLS:C4024607 hp.json http://purl.obolibrary.org/obo/HP_0008991 CHEBI:142567 biolink:ChemicalSubstance alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-yl group A trisaccharide beta-D-glucosyl group obtained by removal of the hydroxy group from the hemiacetal function of alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucose. Part of, and the proposed epitope from, alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide (globoside Gb3Cer; globotriosylceramide; CTH). PMID:33643275|PMID:7691279 hp.json alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl|Galalpha1-4Galbeta1-4Glcbeta-yl|alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-D-Glc-yl|alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl|Galalpha1-4Galbeta1-4Glcbeta-R|Gala1-4Galb1-4Glcb-yl http://purl.obolibrary.org/obo/CHEBI_142567 3_STAR HP:0033972 biolink:PhenotypicFeature Interlobular vein medial atrophy Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. hp.json Medial atrophy within interlobular veins http://purl.obolibrary.org/obo/HP_0033972 PATO:0000411 biolink:NamedThing circular A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. hp.json round|rounded http://purl.obolibrary.org/obo/PATO_0000411 value_slim|mpath_slim|cell_quality HP:0033971 biolink:PhenotypicFeature Interlobular vein intima/media coagulative necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. hp.json http://purl.obolibrary.org/obo/HP_0033971 HP:0031310 biolink:PhenotypicFeature Basilar artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery. hp.json http://purl.obolibrary.org/obo/HP_0031310 HP:0031311 biolink:PhenotypicFeature Middle cerebral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery. hp.json http://purl.obolibrary.org/obo/HP_0031311 HP:0033974 biolink:PhenotypicFeature Interlobular vein intima/media multilamellation Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. hp.json Interlobular vein intima/media onion skinning|Multilamellation (onion skinning) within interlobular vein intima/media http://purl.obolibrary.org/obo/HP_0033974 PATO:0000413 biolink:NamedThing square A shape quality inhering in a bearer by virtue of the bearer's having an equal-sided rectangular form. hp.json http://purl.obolibrary.org/obo/PATO_0000413 value_slim|cell_quality HP:0033973 biolink:PhenotypicFeature Interlobular vein medial hypertrophy Increased thickness of middle layer of the interlobular veins of the kidney. hp.json Medial hypertrophy within interlobular veins http://purl.obolibrary.org/obo/HP_0033973 HP:0033970 biolink:PhenotypicFeature Interlobular vein intima/media liquefactive necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. hp.json Liquefactive necrosis within interlobular vein intima/media http://purl.obolibrary.org/obo/HP_0033970 HP:0031317 biolink:PhenotypicFeature Fatty replacement of ventricular myocardial tissue Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue. hp.json Fatty infiltration of cardiac ventricle|Intramyocardial fat infiltration http://purl.obolibrary.org/obo/HP_0031317 HP:0031318 biolink:PhenotypicFeature Myofiber disarray A nonparallel arrangement of cardiac myocytes. hp.json Myocardial fiber disarray|Myocardial fibre disarray http://purl.obolibrary.org/obo/HP_0031318 HP:0033979 biolink:PhenotypicFeature Excessive dynamic airway collapse Excessive anterior displacement of the tracheal and/or bronchial membranous wall. hp.json Membranous tracheobronchomalacia http://purl.obolibrary.org/obo/HP_0033979 HP:0031319 biolink:PhenotypicFeature Cardiomyocyte hypertrophy An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. hp.json Myocyte cellular hypertrophy http://purl.obolibrary.org/obo/HP_0031319 HP:0031313 biolink:PhenotypicFeature Abdominal aortic calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta. hp.json http://purl.obolibrary.org/obo/HP_0031313 HP:0033976 biolink:PhenotypicFeature Volar fingernail The presence of an extra nail on the palmar (volar, ventral) surface of the finger. hp.json Palmar fingernail|Ventral fingernail http://purl.obolibrary.org/obo/HP_0033976 HP:0006346 biolink:PhenotypicFeature Screwdriver-shaped incisors An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. UMLS:C4025058 hp.json Screwdriver shaped front teeth|Screwdriver-shaped incisors http://purl.obolibrary.org/obo/HP_0006346 HP:0031314 biolink:PhenotypicFeature Carotid artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery. hp.json http://purl.obolibrary.org/obo/HP_0031314 HP:0033975 biolink:PhenotypicFeature Absent second fingernail Absence of the fingernail of the index (second) finger. hp.json http://purl.obolibrary.org/obo/HP_0033975 HP:0006347 biolink:PhenotypicFeature Microdontia of primary teeth Decreased size of the primary teeth. UMLS:C1856203|UMLS:C1855694 hp.json Decreased size of primary tooth|Small deciduous teeth|Decreased width of deciduous teeth|Microdontia of deciduous teeth|Decreased width of milk teeth|Decreased width of primary tooth|Decreased width of baby teeth http://purl.obolibrary.org/obo/HP_0006347 HP:0033978 biolink:PhenotypicFeature Reduced beta-hexosaminidase activity Diminished activity of the enzyme beta-hexosaminidase in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033978 HP:0031315 biolink:PhenotypicFeature External carotid artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery. hp.json http://purl.obolibrary.org/obo/HP_0031315 HP:0031316 biolink:PhenotypicFeature Abnormal ventricular myocardium morphology A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle. hp.json http://purl.obolibrary.org/obo/HP_0031316 HP:0006349 biolink:PhenotypicFeature Agenesis of permanent teeth A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. SNOMEDCT_US:234948008|UMLS:C1290511|SNOMEDCT_US:109444001|MSH:C563203|UMLS:C0457756 hp.json Missing teeth|Failure of development of secondary teeth|Agenesis of secondary dentition|Absence of permanent teeth|Absent permanent teeth|Agenesis of permanent dentition|Failure of development of permanent teeth http://purl.obolibrary.org/obo/HP_0006349 GO:0010256 biolink:BiologicalProcess endomembrane system organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system. hp.json endomembrane system organisation|endomembrane organization http://purl.obolibrary.org/obo/GO_0010256 goslim_drosophila HP:0033977 biolink:PhenotypicFeature Talar aplasia Absent talus owing to a congenital defect. hp.json Absent talus|Talus aplasia http://purl.obolibrary.org/obo/HP_0033977 HP:0006342 biolink:PhenotypicFeature Peg-shaped maxillary lateral incisors A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter UMLS:C4025060 hp.json Peg shaped upper lateral incisors|Peg-shaped tooth|Pointed upper lateral incisors|Cone shaped upper lateral incisors|Conical maxillary lateral incisors|Conoid upper lateral incisors|Peg laterals http://purl.obolibrary.org/obo/HP_0006342 HP:0006344 biolink:PhenotypicFeature Abnormality of primary molar morphology An abnormality of morphology of primary molar. UMLS:C4025059 hp.json Abnormality of deciduous molar morphology|Abnormality of shape of baby molar|Abnormality of shape of primary molar http://purl.obolibrary.org/obo/HP_0006344 HP:0033983 biolink:PhenotypicFeature Decreased circulating apolipoprotein C-II concentration Reduced concentration of apolipoprotein C-II in the blood circulation. hp.json Decreased plasma apolipoprotein C-II http://purl.obolibrary.org/obo/HP_0033983 HP:0031320 biolink:PhenotypicFeature Cardiomyocyte mitochondrial proliferation An abnormal increase in the number of mitochondria per cardiac myocyte. hp.json http://purl.obolibrary.org/obo/HP_0031320 HP:0033982 biolink:PhenotypicFeature Celiac artery dissection A separation (dissection) of the layers of the celiac artery wall. hp.json http://purl.obolibrary.org/obo/HP_0033982 HP:0031321 biolink:PhenotypicFeature Myocardial immune cell infiltration An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium). hp.json http://purl.obolibrary.org/obo/HP_0031321 HP:0031322 biolink:PhenotypicFeature Myocardial lymphocytic infiltration An increase in the number of lymphocytes in myocardial tissue. hp.json http://purl.obolibrary.org/obo/HP_0031322 HP:0033985 biolink:PhenotypicFeature Elongated femoral neck Increased length of the neck of the femur. hp.json Long femoral neck http://purl.obolibrary.org/obo/HP_0033985 HP:0033984 biolink:PhenotypicFeature Increased urinary 8-oxo-7,8-dihydroguanosine level An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine. hp.json Increased urine 8-oxo-7,8-dihydroguanosine|Increased urinary 8-oxo-7,8-dihydroguanosine|Increased urine 8-oxo-GMP|Increased urinary 8-oxo-Gsn level http://purl.obolibrary.org/obo/HP_0033984 HP:0031323 biolink:PhenotypicFeature Myocardial eosinophilic infiltration An increase in the number of eosinophils in myocardial tissue. hp.json http://purl.obolibrary.org/obo/HP_0031323 HP:0033981 biolink:PhenotypicFeature Vertebral artery tortuosity Abnormal tortuous (i.e., twisted) form of the vertebral arteries. hp.json Tortuous vertebral arteries http://purl.obolibrary.org/obo/HP_0033981 HP:0033980 biolink:PhenotypicFeature Paroxysmal tonic upgaze Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness. hp.json http://purl.obolibrary.org/obo/HP_0033980 PATO:0000427 biolink:NamedThing recurrent A quality of a single process inhering in a bearer by virtue of the bearer's occurring or appearing again or repeatedly. hp.json http://purl.obolibrary.org/obo/PATO_0000427 hpo_slim|value_slim|mpath_slim HP:0031328 biolink:PhenotypicFeature Perivascular cardiac fibrosis A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces. hp.json http://purl.obolibrary.org/obo/HP_0031328 HP:0031329 biolink:PhenotypicFeature Interstitial cardiac fibrosis A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. hp.json http://purl.obolibrary.org/obo/HP_0031329 HP:0006313 biolink:PhenotypicFeature Widely spaced primary teeth Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. UMLS:C4021603 hp.json Generalised spacing of primary teeth|Widely spaced milk teeth|Widely spaced deciduous teeth|Widely spaced baby teeth|Wide gaps between primary teeth|Wide gaps between baby teeth|Generalized spacing of primary teeth http://purl.obolibrary.org/obo/HP_0006313 GO:0009235 biolink:BiologicalProcess cobalamin metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. hp.json vitamin B12 metabolism|vitamin B12 reduction|vitamin B12 metabolic process|cobalamin metabolism http://purl.obolibrary.org/obo/GO_0009235 HP:0031324 biolink:PhenotypicFeature Myocardial multinucleated giant cells The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin. hp.json http://purl.obolibrary.org/obo/HP_0031324 HP:0033987 biolink:PhenotypicFeature Phosphaturic mesenchymal tumor A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites. hp.json http://purl.obolibrary.org/obo/HP_0033987 HP:0031325 biolink:PhenotypicFeature Myocardial granulomatous infiltrates The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium. hp.json http://purl.obolibrary.org/obo/HP_0031325 HP:0033986 biolink:PhenotypicFeature Tortuous lymphatic vessels The presence of an increased number of twists and turns of lymphatic vessels. hp.json Tortuous lymphatics http://purl.obolibrary.org/obo/HP_0033986 HP:0006315 biolink:PhenotypicFeature Solitary median maxillary central incisor A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. UMLS:C1840235|MSH:C537342|SNOMEDCT_US:707609006 hp.json Only one upper front tooth|Single median incisor|Single midline maxillary incisor|Single maxillary central incisor|Single central upper incisor|Solitary median maxillary central incisor|Single central incisor|Solitary midline maxillary central incisor|Single midline upper front tooth|Solitary median maxillary central incisor syndrome|Single median maxillary incisor http://purl.obolibrary.org/obo/HP_0006315 hposlim_core HP:0031326 biolink:PhenotypicFeature Monoclonal light chain cardiac amyloidosis A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry. hp.json http://purl.obolibrary.org/obo/HP_0031326 HP:0033989 biolink:PhenotypicFeature Hippocampal microinfarct An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically. hp.json http://purl.obolibrary.org/obo/HP_0033989 HP:0008978 biolink:PhenotypicFeature Necrotizing myopathy UMLS:C4024608 hp.json http://purl.obolibrary.org/obo/HP_0008978 HP:0006316 biolink:PhenotypicFeature Irregularly spaced teeth Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. UMLS:C1845878 hp.json Irregularly spaced teeth|Variability of spacing between teeth|Irregular dental spacing|Variability of dental spacing http://purl.obolibrary.org/obo/HP_0006316 HP:0033988 biolink:PhenotypicFeature Amygdala microinfarct An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically. hp.json http://purl.obolibrary.org/obo/HP_0033988 HP:0031327 biolink:PhenotypicFeature Transthyretin cardiac amyloidosis A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining. hp.json TTR cardiac amyloidosis http://purl.obolibrary.org/obo/HP_0031327 HP:0008972 biolink:PhenotypicFeature Decreased activity of mitochondrial respiratory chain Decreased activity of the mitochondrial respiratory chain. UMLS:C4024609|UMLS:C1835995|UMLS:C3276441 hp.json Decreased activities of mitochondrial-encoded respiratory chain complexes|Decreased activity of mitochondrial respiratory complexes http://purl.obolibrary.org/obo/HP_0008972 HP:0006311 biolink:PhenotypicFeature Generalized microdontia A generalized form of microdontia. UMLS:C4025065 hp.json Decreased width of all teeth|Decreased size of all teeth|Tooth mass insufficiency|Hypotrophy of all teeth|Generalised microdontia|Decreased tooth mass http://purl.obolibrary.org/obo/HP_0006311 HP:0008970 biolink:PhenotypicFeature Scapulohumeral muscular dystrophy MSH:C562932|SNOMEDCT_US:240074006|UMLS:C0410192 hp.json http://purl.obolibrary.org/obo/HP_0008970 HP:0031331 biolink:PhenotypicFeature Abnormal cardiomyocyte morphology Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. hp.json Abnormal cardiac muscle cell morphology http://purl.obolibrary.org/obo/HP_0031331 HP:0033994 biolink:PhenotypicFeature Dependency on parenteral nutrition Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition. hp.json http://purl.obolibrary.org/obo/HP_0033994 HP:0031332 biolink:PhenotypicFeature Cardiomyocyte degeneration Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris. hp.json http://purl.obolibrary.org/obo/HP_0031332 HP:0033993 biolink:PhenotypicFeature Viral encephalitis An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction. hp.json http://purl.obolibrary.org/obo/HP_0033993 HP:0031333 biolink:PhenotypicFeature Myocardial sarcomeric disarray A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. hp.json Myocardial sarcomere disarray http://purl.obolibrary.org/obo/HP_0031333 HP:0033996 biolink:PhenotypicFeature Microvillar PAS-positive secretory granules The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures. hp.json http://purl.obolibrary.org/obo/HP_0033996 HP:0033995 biolink:PhenotypicFeature Microvillus inclusions The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes. hp.json http://purl.obolibrary.org/obo/HP_0033995 HP:0031334 biolink:PhenotypicFeature Cardiomyocyte inclusion bodies Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes. hp.json http://purl.obolibrary.org/obo/HP_0031334 HP:0033990 biolink:PhenotypicFeature Cartilaginous tracheobronchomalacia Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness. hp.json Cartilaginous malacia http://purl.obolibrary.org/obo/HP_0033990 GO:0009250 biolink:NamedThing glucan biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0009250 HP:0033992 biolink:PhenotypicFeature Chronotropic incompetence Inability of the heart to increase its rate commensurate with increased activity or demand. hp.json http://purl.obolibrary.org/obo/HP_0033992 GO:0009251 biolink:NamedThing glucan catabolic process hp.json http://purl.obolibrary.org/obo/GO_0009251 HP:0031330 biolink:PhenotypicFeature Perivascular myocardial immune cell infiltration An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels. hp.json http://purl.obolibrary.org/obo/HP_0031330 HP:0033991 biolink:PhenotypicFeature Vasa previa Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally. hp.json http://purl.obolibrary.org/obo/HP_0033991 HP:0031339 biolink:PhenotypicFeature Abnormal cadiomyocyte dystrophin staining Anomalous staining of dystrophin in cardiomyocytes. hp.json http://purl.obolibrary.org/obo/HP_0031339 HP:0006329 biolink:PhenotypicFeature Alveolar process hypoplasia Underdevelopment of the alveolar process (also known as alveolar bone). SNOMEDCT_US:708494003|UMLS:C1848905|UMLS:C3872671|UMLS:C4280453|UMLS:C4280452|UMLS:C4280451 hp.json Underdevelopment of alveolar process of jaw|Hypoplastic alveolar bone|Deficiency of alveolar ridge|Underdevelopment of alveolar ridge|Hypotrophic alveolar process of jaw|Small alveolar ridge|Decreased size of alveolar process of jaw|Hypotrophic alveolar ridge|Deficiency of alveolar process of jaw|Hypoplasia of alveolar ridge|Decreased size of alveolar ridge|Small alveolar process of jaw http://purl.obolibrary.org/obo/HP_0006329 HP:0031335 biolink:PhenotypicFeature Abnormal cardiomyocyte mitochondrial morphology An anomaly of the structure of mitochondria within cardiomyocytes. hp.json http://purl.obolibrary.org/obo/HP_0031335 HP:0033998 biolink:PhenotypicFeature Single-lobed right lung A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes. hp.json http://purl.obolibrary.org/obo/HP_0033998 HP:0008986 biolink:PhenotypicFeature Agenesis of the diaphragm Congenital lack, i.e., aplasia of the diaphragm. UMLS:C0221360|SNOMEDCT_US:702613006|SNOMEDCT_US:72424001 hp.json Absent diaphragm|Agenesis of diaphragm http://purl.obolibrary.org/obo/HP_0008986 HP:0033997 biolink:PhenotypicFeature Perinuclear cardiomyocyte vacuolization Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart. hp.json http://purl.obolibrary.org/obo/HP_0033997 HP:0031336 biolink:PhenotypicFeature Intranuclear cardiomyocyte mitochondria Abnormal localization of mitochondria within the nuclei of cardiomyocytes. hp.json http://purl.obolibrary.org/obo/HP_0031336 HP:0006326 biolink:PhenotypicFeature Buried teeth encased in mucopolysaccharide UMLS:C4025064 hp.json Impacted teeth due to mucopolysaccharidoses|Failure of tooth eruption due to mucopolysaccharidoses|Failure of dental eruption due to mucopolysaccharidoses|Unerupted dentition due to mucopolysaccharidoses|Unerupted teeth due to mucopolysaccharidoses http://purl.obolibrary.org/obo/HP_0006326 HP:0031337 biolink:PhenotypicFeature Abnormal cardiomyocyte connexin43 staining Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. hp.json http://purl.obolibrary.org/obo/HP_0031337 HP:0008988 biolink:PhenotypicFeature Pelvic girdle muscle atrophy Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). UMLS:C0240679 hp.json Pelvic girdle muscle wasting http://purl.obolibrary.org/obo/HP_0008988 HP:0033999 biolink:PhenotypicFeature Bronchial hemorrhage Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy. hp.json Bronchial bleeding http://purl.obolibrary.org/obo/HP_0033999 HP:0031338 biolink:PhenotypicFeature Abnormal cardiomyocyte plakoglobin staining Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. hp.json http://purl.obolibrary.org/obo/HP_0031338 HP:0006321 biolink:PhenotypicFeature Multiple non-erupting secondary teeth UMLS:C1848904 hp.json Failure of eruption of multiple permanent teeth|Multiple non-erupting permanent teeth|Failure of eruption of multiple adult teeth|Multiple unerupted permanent teeth|Multiple non-erupting adult teeth|Multiple unerupted adult teeth http://purl.obolibrary.org/obo/HP_0006321 HP:0008985 biolink:PhenotypicFeature Increased intramuscular fat An abnormal increase in the amount of intramuscular fat tissue. UMLS:C1835389 hp.json Increased IM fat|Increased intramuscular fat http://purl.obolibrary.org/obo/HP_0008985 HP:0006323 biolink:PhenotypicFeature Premature loss of primary teeth Loss of the primary (also known as deciduous) teeth before the usual age. UMLS:C0266052|SNOMEDCT_US:122483006|SNOMEDCT_US:39034005 hp.json Premature loss of deciduous teeth|Premature exfoliation of deciduous teeth|Premature deciduous tooth loss|Early loss of primary teeth|Premature exfoliation of primary teeth|Premature loss of baby teeth|Early loss of baby teeth|Early loss of deciduous teeth http://purl.obolibrary.org/obo/HP_0006323 hposlim_core HP:0008984 biolink:PhenotypicFeature Neck muscle hypoplasia Underdevelopment of muscles of the neck. UMLS:C4280409|UMLS:C4280408|UMLS:C1969000 hp.json Hypotrophic neck muscle|Decreased size of neck muscle|Deficiency of neck muscle|Small neck muscle|Underdevelopment of neck muscle http://purl.obolibrary.org/obo/HP_0008984 HP:0008981 biolink:PhenotypicFeature Calf muscle hypertrophy Muscle hypertrophy affecting the calf muscles. UMLS:C1843057 hp.json Calf hypertrophy|Muscular hypertrophy of the calf muscles|Increased size of calf muscles http://purl.obolibrary.org/obo/HP_0008981 HP:0006380 biolink:PhenotypicFeature Knee flexion contracture A bent (flexed) knee joint that cannot be straightened actively or passively. UMLS:C0409355|SNOMEDCT_US:202289003 hp.json Flexion contractures at both knees|Knee flexion deformity|Knee flexion contractures|Contractures of the knees|Contractures of knees|Knee contractures|Knee contracture|Flexion contractures of knees|Inability to straighten knee|Flexion deformity of the knee|Flexion contracture of knees http://purl.obolibrary.org/obo/HP_0006380 hposlim_core HP:0006381 biolink:PhenotypicFeature Rudimentary fibula Absent or nearly absent fibula. (Does not include aplastic) UMLS:C1844706 hp.json Small to absent calf bone|Rudimentary to absent fibulae|Small to absent fibula http://purl.obolibrary.org/obo/HP_0006381 CHEBI:142533 biolink:ChemicalSubstance ->4)-alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-yl group An organic group forming part of, and a proposed epitope within, globoside GM1. PMID:7691279 hp.json ->4)-alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosylp-(1->4)-beta-D-glucopyranosyl|->4)-alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-yl|->4)-alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-yl group|->4)-alpha-D-galactosyl-(1->4)-beta-D-galactosylp-(1->4)-beta-D-glucosyl http://purl.obolibrary.org/obo/CHEBI_142533 3_STAR NBO:0002436 biolink:NamedThing regulation of feeding behavior "Any process that modulates the frequency, rate or extent of consumption of food or liquid" [NBOC:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0002436 HP:0033925 biolink:PhenotypicFeature Renal arteriole lymphocyte endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. hp.json Endoarterial hypercellularity within arterioles consisting of lymphocytes http://purl.obolibrary.org/obo/HP_0033925 HP:0033924 biolink:PhenotypicFeature Renal arteriole neutrophil endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. hp.json Endoarterial hypercellularity within arterioles consisting of neutrophils http://purl.obolibrary.org/obo/HP_0033924 HP:0033927 biolink:PhenotypicFeature Arcuate artery endoarterial leukocyte hypercellularity Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). hp.json Endoarterial hypercellularity within arcuate artery consisting of leukocytes http://purl.obolibrary.org/obo/HP_0033927 HP:0033926 biolink:PhenotypicFeature Renal arteriole intimal/medial multilamellation Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. hp.json Renal arteriole intimal/medial onion skinning|Renal arteriole intima/media multilamellation|Multilamellation (onion skinning) within renal arteriole intima/media http://purl.obolibrary.org/obo/HP_0033926 HP:0033921 biolink:PhenotypicFeature Renal arteriole endoarterial hypercellularity Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. hp.json Endoarterial hypercellularity within arterioles http://purl.obolibrary.org/obo/HP_0033921 HP:0006379 biolink:PhenotypicFeature Proximal tibial hypoplasia UMLS:C1856029 hp.json Proximal tibial hypopolasia http://purl.obolibrary.org/obo/HP_0006379 HP:0033920 biolink:PhenotypicFeature Renal arteriole intima/media storage material accumulation Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. hp.json Accumulated storage material within arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033920 HP:0033923 biolink:PhenotypicFeature Renal arteriole foam cell endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. hp.json Endoarterial hypercellularity within arterioles consisting of foam cells http://purl.obolibrary.org/obo/HP_0033923 HP:0033922 biolink:PhenotypicFeature Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). hp.json http://purl.obolibrary.org/obo/HP_0033922 HP:0006375 biolink:PhenotypicFeature Dumbbell-shaped femur The femur is shortened and displays flaring (widening) of the metaphyses. UMLS:C4025052 hp.json Dumbbell-shaped thighbone http://purl.obolibrary.org/obo/HP_0006375 HP:0006376 biolink:PhenotypicFeature Limited elbow flexion UMLS:C1856922 hp.json http://purl.obolibrary.org/obo/HP_0006376 UBERON:0002600 biolink:AnatomicalEntity limbic lobe Part of cerebral hemisphere located on the medial surface, forming a ring around the brain stem. BAMS:LL|UMLS:C0458337|FMA:72719|BAMS:Limbic_lobe|BIRNLEX:1128|MESH:D065726|DHBA:12155|HBA:4219|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=834|CALOHA:TS-2061 hp.json gyrus fornicatus|fornicate lobe|limbic lobe (carpenter)|fornicate gyrus|fornicate convolution|grande lobe limbique of Broca|lobus limbicus http://purl.obolibrary.org/obo/UBERON_0002600 human_reference_atlas|uberon_slim|pheno_slim HP:0006378 biolink:PhenotypicFeature Osteolysis of patellae UMLS:C4025051 hp.json http://purl.obolibrary.org/obo/HP_0006378 HP:0033929 biolink:PhenotypicFeature Arcuate artery endoarterial neutrophil hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. hp.json Endoarterial hypercellularity within arcuate artery consisting of neutrophils http://purl.obolibrary.org/obo/HP_0033929 HP:0006371 biolink:PhenotypicFeature Broad long bone diaphyses Increased width of the diaphysis of long bones. UMLS:C4025053 hp.json Broad shaft of long bone|Wide shaft of long bone http://purl.obolibrary.org/obo/HP_0006371 HP:0033928 biolink:PhenotypicFeature Arcuate artery endoarterial foam cell hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. hp.json Endoarterial hypercellularity within arcuate artery consisting of foam cells http://purl.obolibrary.org/obo/HP_0033928 HP:0006390 biolink:PhenotypicFeature Anterior tibial bowing An abnormal anterior bending or curvature of the tibia. UMLS:C1861937 hp.json Anterior bowing of tibia http://purl.obolibrary.org/obo/HP_0006390 HP:0006391 biolink:PhenotypicFeature Overtubulated long bones Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. UMLS:C1848769 hp.json http://purl.obolibrary.org/obo/HP_0006391 HP:0006392 biolink:PhenotypicFeature Increased density of long bones An abnormal increase in the bone density of the long bones. UMLS:C1849307 hp.json Increased density of long bones http://purl.obolibrary.org/obo/HP_0006392 HP:0033930 biolink:PhenotypicFeature Arcuate artery endoarterial lymphocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. hp.json Endoarterial hypercellularity within arcuate artery consisting of lymphocytes http://purl.obolibrary.org/obo/HP_0033930 HP:0033936 biolink:PhenotypicFeature Cortical radial artery intima/media liquefactive necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. hp.json Liquefactive necrosis within interlobular arterial intima/media http://purl.obolibrary.org/obo/HP_0033936 HP:0033935 biolink:PhenotypicFeature Cortical radial artery intima/media necrosis Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. hp.json Necrosis within interlobular arterial intima/media http://purl.obolibrary.org/obo/HP_0033935 HP:0033938 biolink:PhenotypicFeature Renal arteriole intima/media necrosis Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033938 HP:0033937 biolink:PhenotypicFeature Cortical radial artery intima/media coagulative necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. hp.json http://purl.obolibrary.org/obo/HP_0033937 HP:0033932 biolink:PhenotypicFeature Arcuate artery intima/media coagulative necrosis A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. hp.json Coagulative necrosis within interlobular arterial intima/media http://purl.obolibrary.org/obo/HP_0033932 HP:0033931 biolink:PhenotypicFeature Arcuate artery intima/media necrosis Death of tissue in the inner or middle layer of the arcuate artery of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033931 HP:0033934 biolink:PhenotypicFeature Arcuate vein intimal/medial storage material accumulation Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. hp.json Multilamellation (onion skinning) within arteriolar intima/media|Renal arteriole intima/media onion skinning http://purl.obolibrary.org/obo/HP_0033934 HP:0033933 biolink:PhenotypicFeature Arcuate artery intima/media liquefactive necrosis A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. hp.json Liquefactive necrosis of the arcuate artery intima/media http://purl.obolibrary.org/obo/HP_0033933 HP:0006386 biolink:PhenotypicFeature Hypoplastic distal radial epiphyses Underdevelopment of the distal epiphysis of the radius. UMLS:C1969286 hp.json http://purl.obolibrary.org/obo/HP_0006386 HP:0006387 biolink:PhenotypicFeature Wide distal femoral metaphysis Increased width of the distal part of the shaft (metaphysis) of the femur. UMLS:C1849309 hp.json Broad outermost wide portion of thighbone|Wide distal metaphysis of femur http://purl.obolibrary.org/obo/HP_0006387 HP:0006389 biolink:PhenotypicFeature Limited knee flexion Reduced ability to flex (bend) the knee joint. UMLS:C1839512 hp.json http://purl.obolibrary.org/obo/HP_0006389 HP:0033939 biolink:PhenotypicFeature Renal arteriole intima/media liquefactive necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. hp.json Liquefactive necrosis of the renal arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033939 HP:0006383 biolink:PhenotypicFeature Progressive bowing of long bones Progressive bending or abnormal curvature of a long bone. UMLS:C1857137 hp.json http://purl.obolibrary.org/obo/HP_0006383 HP:0006384 biolink:PhenotypicFeature Club-shaped distal femur An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. UMLS:C1857505 hp.json Club-shaped distal femora|Club-shaped outermost end of thighbone http://purl.obolibrary.org/obo/HP_0006384 HP:0006385 biolink:PhenotypicFeature Short lower limbs Shortening of the legs related to developmental hypoplasia of the bones of the leg. UMLS:C0426901|SNOMEDCT_US:249786007 hp.json Short legs|Short lower limbs http://purl.obolibrary.org/obo/HP_0006385 hposlim_core OBO:MAXO_0001010 biolink:NamedThing leukocyte count A test to determine the number of leukocytes in a sample of blood. NCIT:C51948 hp.json WBC|white blood cell count http://purl.obolibrary.org/obo/MAXO_0001010 HP:0033941 biolink:PhenotypicFeature Granulomatous arteriolitis of the arteriolar intima/media A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. hp.json Granulomatous arteriolitis within arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033941 HP:0033940 biolink:PhenotypicFeature Renal arteriole intima/media coagulative necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. hp.json http://purl.obolibrary.org/obo/HP_0033940 HP:0033947 biolink:PhenotypicFeature Renal arteriole intima/media crystal accumulation Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. hp.json Accumulated crystals within renal arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033947 HP:0033946 biolink:PhenotypicFeature Arcuate vein intima/media crystal accumulation Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033946 HP:0033949 biolink:PhenotypicFeature Arcuate artery intima/media granulomatous arteriitis A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. hp.json Granulomatous arteritis within arcuate arterial intima/media http://purl.obolibrary.org/obo/HP_0033949 HP:0033948 biolink:PhenotypicFeature Arcuate artery intima/media arteriitis Inflammation of the inner or middle layer of the arcuate arteries of the kidney. hp.json Arteritis within arcuate arterial intima/media http://purl.obolibrary.org/obo/HP_0033948 HP:0033943 biolink:PhenotypicFeature Arcuate vein medial/intimal coagulative necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. hp.json Coagulative necrosis within arcuate vein intima/media http://purl.obolibrary.org/obo/HP_0033943 HP:0006357 biolink:PhenotypicFeature Premature loss of permanent teeth Premature loss of the permanent teeth. UMLS:C1969738 hp.json Early loss of permanent teeth|Early loss of adult teeth|Early loss of secondary dentition|Premature loss of secondary teeth|Premature loss of adult teeth http://purl.obolibrary.org/obo/HP_0006357 HP:0033942 biolink:PhenotypicFeature Arcuate vein medial/intimal necrosis Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. hp.json Necrosis within arcuate vein intima/media http://purl.obolibrary.org/obo/HP_0033942 HP:0006358 biolink:PhenotypicFeature Shovel-shaped maxillary central incisors A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces. UMLS:C1833168 hp.json Shovel-shaped upper front teeth|Shovel tooth http://purl.obolibrary.org/obo/HP_0006358 HP:0033945 biolink:PhenotypicFeature Arcuate intimal/medial granulomatous venulitis A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. hp.json http://purl.obolibrary.org/obo/HP_0033945 HP:0033944 biolink:PhenotypicFeature Arcuate vein medial/intimal liquefactive necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. hp.json Liquefactive necrosis within arcuate vein intima/media http://purl.obolibrary.org/obo/HP_0033944 HP:0006353 biolink:PhenotypicFeature Hypoplasia of the tooth germ Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. UMLS:C4025055 hp.json Hypoplastic tooth buds|Small tooth germ|Decreased size of tooth germ|Underdevelopment of tooth germ|Decreased size of tooth bud|Underdevelopment of tooth bud|Hypotrophic tooth germ|Small tooth bud http://purl.obolibrary.org/obo/HP_0006353 HP:0006355 biolink:PhenotypicFeature Agenesis of mandibular central incisor Agenesis of lower secondary incisor or lower primary incisor. UMLS:C1840225|UMLS:C4025054 hp.json Absence of mandibular central incisor|Failure of development of mandibular central incisor|Absence of lower central incisor|Missing mandibular central incisor|Missing lower central incisor http://purl.obolibrary.org/obo/HP_0006355 HP:0006350 biolink:PhenotypicFeature Pulp obliteration Mineralized substance filling the entire dental pulp space. UMLS:C4020817|UMLS:C4025057|UMLS:C4280448 hp.json Obliteration of the pulp chamber|Pulp canal obliteration|Small pulp chamber of tooth|Narrowing of pulp chamber of tooth|Crescent/chevron-shaped pulp chambers|Reduced size of pulp chamber of tooth http://purl.obolibrary.org/obo/HP_0006350 HP:0006352 biolink:PhenotypicFeature Failure of eruption of permanent teeth Lack of tooth eruption of the secondary dentition. UMLS:C4025056|UMLS:C4280447 hp.json Unerupted permanent teeth|Unerupted permanent dentition|Failure of eruption of adult teeth|Unerupted adult teeth|Unerupted adult dentition http://purl.obolibrary.org/obo/HP_0006352 OBO:MAXO_0001000 biolink:NamedThing functional magnetic resonance imaging procedure The principle of functional MRI imaging is to take a series of images of an organ in quick succession and to statistically analyze the images for differences among them. Most commonly used in studies of brain function. NCIT:C17958 hp.json fMRI|Functional MRI http://purl.obolibrary.org/obo/MAXO_0001000 HP:0006370 biolink:PhenotypicFeature Distal ulnar epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna. UMLS:C4021600 hp.json Distal ulnar epiphyseal calcifications http://purl.obolibrary.org/obo/HP_0006370 HP:0033950 biolink:PhenotypicFeature Cortical radial artery intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. hp.json Intraluminal thrombi within interlobular arterial lumen http://purl.obolibrary.org/obo/HP_0033950 HP:0033952 biolink:PhenotypicFeature Abnormal cortical radial artery endothelium morphology Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. hp.json Abnormalities of the interlobular arterial endothelium http://purl.obolibrary.org/obo/HP_0033952 HP:0033951 biolink:PhenotypicFeature Cortical radial artery intraluminal organized thrombi Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. hp.json Organized thrombi within interlobular arterial lumen http://purl.obolibrary.org/obo/HP_0033951 HP:0033958 biolink:PhenotypicFeature Cortical radial artery foam cell hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. hp.json Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells http://purl.obolibrary.org/obo/HP_0033958 HP:0033957 biolink:PhenotypicFeature Cortical radial artery neutrophil hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. hp.json Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils http://purl.obolibrary.org/obo/HP_0033957 HP:0033959 biolink:PhenotypicFeature Cortical radial artery intima/media arteriosclerosis Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. hp.json Arteriosclerosis within interlobular arterial intima/media http://purl.obolibrary.org/obo/HP_0033959 HP:0006368 biolink:PhenotypicFeature Forearm reduction defects UMLS:C1849327 hp.json http://purl.obolibrary.org/obo/HP_0006368 HP:0033954 biolink:PhenotypicFeature Cortical radial artery hypercellularity Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. hp.json Endoarterial hypercellularity within interlobular artery http://purl.obolibrary.org/obo/HP_0033954 HP:0033953 biolink:PhenotypicFeature Cortical radial artery endotheliosis Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. hp.json Endotheliosis within interlobular arteries http://purl.obolibrary.org/obo/HP_0033953 HP:0006369 biolink:PhenotypicFeature Irregular patellae An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour. UMLS:C1836870 hp.json Irregular patellar margins|Irregular patellar contour http://purl.obolibrary.org/obo/HP_0006369 HP:0033956 biolink:PhenotypicFeature Cortical radial artery lymphocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. hp.json Endoarterial hypercellularity within interlobular artery consisting of lymphocytes http://purl.obolibrary.org/obo/HP_0033956 HP:0033955 biolink:PhenotypicFeature Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). hp.json Endoarterial hypercellularity within interlobular artery consisting of leukocytes http://purl.obolibrary.org/obo/HP_0033955 GO:0009205 biolink:BiologicalProcess purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. hp.json purine ribonucleoside triphosphate metabolism http://purl.obolibrary.org/obo/GO_0009205 OBO:MAXO_0001008 biolink:NamedThing platelet count The determination of the number of platelets in a blood sample, usually expressed as platelets per cubic millimeter (cmm) of whole blood. NCIT:C51951 hp.json thrombocyte count http://purl.obolibrary.org/obo/MAXO_0001008 OBO:MAXO_0001007 biolink:NamedThing erythrocyte count The determination of the number of erythrocytes in a blood sample. NCIT:C51946 hp.json red cell count|RBC|red blood cell count http://purl.obolibrary.org/obo/MAXO_0001007 HP:0006366 biolink:PhenotypicFeature Adductor longus contractures UMLS:C1859524 hp.json http://purl.obolibrary.org/obo/HP_0006366 OBO:MAXO_0001006 biolink:NamedThing blood cell count The determination of the number of red blood cells, white blood cells, and platelets in a blood sample. NCIT:C28133 hp.json CBC|full blood count|complete blood count http://purl.obolibrary.org/obo/MAXO_0001006 HP:0006367 biolink:PhenotypicFeature Crumpled long bones An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. UMLS:C1970497 hp.json Crumpled long bones http://purl.obolibrary.org/obo/HP_0006367 HP:0006361 biolink:PhenotypicFeature Irregular femoral epiphysis UMLS:C1850658 hp.json Irregular thighbone end part http://purl.obolibrary.org/obo/HP_0006361 HP:0006362 biolink:PhenotypicFeature Varus deformity of humeral neck UMLS:C1854948 hp.json http://purl.obolibrary.org/obo/HP_0006362 OBO:MAXO_0001009 biolink:NamedThing neutrophil count A test to determine the number of neutrophils in a sample of blood. hp.json http://purl.obolibrary.org/obo/MAXO_0001009 UBERON:2002260 biolink:AnatomicalEntity premaxillary-maxillary joint Joint that articulates the premaxilla and maxilla. Premaxillary-maxillary joint is paired. hp.json http://purl.obolibrary.org/obo/UBERON_2002260 HP:0008915 biolink:PhenotypicFeature Childhood-onset truncal obesity Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. UMLS:C1859846 hp.json Truncal obesity apparent in childhood http://purl.obolibrary.org/obo/HP_0008915 HP:0008929 biolink:PhenotypicFeature Asymmetric short stature UMLS:C4024614 hp.json http://purl.obolibrary.org/obo/HP_0008929 GO:0061792 biolink:BiologicalProcess secretory granule maturation Steps required to transform an immature secretory vesicle into a mature secretory vesicle. Typically proceeds through homotypic membrane fusion and membrane remodelling. hp.json http://purl.obolibrary.org/obo/GO_0061792 HP:0008921 biolink:PhenotypicFeature Neonatal short-limb short stature A type of short-limbed dwarfism that is manifest beginning in the neonatal period. UMLS:C1850171 hp.json Short limb dwarfism recognisable at birth|Short limb dwarfism recognizable at birth|Neonatal short-limbed dwarfism|Short-limbed dwarfism identifiable at birth|Short-limb dwarfism identifiable at birth|Short-limb dwarfism identifiable neonatally|Dwarfism, neonatal short-limbed http://purl.obolibrary.org/obo/HP_0008921 HP:0008922 biolink:PhenotypicFeature Childhood-onset short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. UMLS:C3148833 hp.json Disproportionate short-trunk short stature, identifiable in childhood|Short-trunk dwarfism identifiable during childhood|Childhood-onset short-trunk short stature http://purl.obolibrary.org/obo/HP_0008922 GO:0046185 biolink:BiologicalProcess aldehyde catabolic process The chemical reactions and pathways resulting in the breakdown of aldehydes, any organic compound with the formula R-CH=O. hp.json aldehyde degradation|aldehyde catabolism|aldehyde breakdown http://purl.obolibrary.org/obo/GO_0046185 GO:0046189 biolink:BiologicalProcess phenol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. hp.json phenol-containing compound anabolism|phenol-containing compound synthesis|phenol-containing compound formation|phenol-containing compound biosynthesis http://purl.obolibrary.org/obo/GO_0046189 HP:0033903 biolink:PhenotypicFeature Arcuate artery endoarterial hypercellularity Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. hp.json Endoarterial hypercellularity within arcuate artery http://purl.obolibrary.org/obo/HP_0033903 HP:0033902 biolink:PhenotypicFeature Arcuate artery endotheliosis Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. hp.json Endotheliosis within arcuate arteries http://purl.obolibrary.org/obo/HP_0033902 GO:0009199 biolink:BiologicalProcess ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. hp.json ribonucleoside triphosphate metabolism http://purl.obolibrary.org/obo/GO_0009199 HP:0033905 biolink:PhenotypicFeature Arcuate artery intima/media arteriosclerosis Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. hp.json Arteriosclerosis within arcuate arterial intima/media http://purl.obolibrary.org/obo/HP_0033905 HP:0033904 biolink:PhenotypicFeature Renal arteriole intima/media hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. hp.json http://purl.obolibrary.org/obo/HP_0033904 HP:0033901 biolink:PhenotypicFeature Abnormal arcuate artery endothelium morphology Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033901 HP:0033900 biolink:PhenotypicFeature Renal arteriole intima/media amyloidosis Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. hp.json Amyloidosis within renal arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033900 HP:0033907 biolink:PhenotypicFeature Renal arteriole intima/media arteriolosclerosis Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. hp.json http://purl.obolibrary.org/obo/HP_0033907 HP:0033906 biolink:PhenotypicFeature Renal intimal/medial arteriolitis Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. hp.json http://purl.obolibrary.org/obo/HP_0033906 GO:0097734 biolink:BiologicalProcess extracellular exosome biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. hp.json exosome production|exosome assembly or secretion|intraluminal vesicle assembly|exosome biogenesis|ILV assembly http://purl.obolibrary.org/obo/GO_0097734 HP:0033909 biolink:PhenotypicFeature Arcuate vein medial hypertrophy Increased thickness of middle layer of the arcuate veins of the kidney. hp.json Medial hypertrophy within arcuate veins http://purl.obolibrary.org/obo/HP_0033909 HP:0033908 biolink:PhenotypicFeature Renal arteriole medial atrophy Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033908 HP:0008909 biolink:PhenotypicFeature Lethal short-limbed short stature UMLS:C2674171 hp.json Lethal short-limbed dwarfism|Lethal micromelic dwarfism http://purl.obolibrary.org/obo/HP_0008909 HP:0033914 biolink:PhenotypicFeature Arcuate artery intima/media amyloidosis Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. hp.json Amyloidosis within arcuate arterial intima/media http://purl.obolibrary.org/obo/HP_0033914 HP:0033913 biolink:PhenotypicFeature Cortical radial artery medial/intimal arteriitis Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. hp.json Interlobular artery medial/intimal arteriitis|Arteritis within interlobular arterial intima/media http://purl.obolibrary.org/obo/HP_0033913 HP:0008905 biolink:PhenotypicFeature Rhizomelia Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). UMLS:C1866730 hp.json Short stature, rhizomelic|Rhizomelic shortening|Rhizomelic short stature|Disproportionately short upper portion of limb|Rhizomelic short limbs|Rhizomelic limb shortening|Symmetrical rhizomelic limb shortening|Rhizomelic dwarfism http://purl.obolibrary.org/obo/HP_0008905 hposlim_core HP:0033916 biolink:PhenotypicFeature Medial/intimal arcuate venosclerosis Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. hp.json http://purl.obolibrary.org/obo/HP_0033916 HP:0033915 biolink:PhenotypicFeature Arcuate artery intimal mucoid edema Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. hp.json http://purl.obolibrary.org/obo/HP_0033915 HP:0033910 biolink:PhenotypicFeature Arcuate vein medial atrophy Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. hp.json Medial atrophy within arcuate veins http://purl.obolibrary.org/obo/HP_0033910 HP:0033912 biolink:PhenotypicFeature Cortical radial artery medial atrophy Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. hp.json Interlobular artery medial atrophy|Medial atrophy within interlobular arteries http://purl.obolibrary.org/obo/HP_0033912 HP:0033911 biolink:PhenotypicFeature Cortical radial artery medial hypertrophy Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. hp.json Interlobular artery medial hypertrophy|Medial hypertrophy within interlobular arteries http://purl.obolibrary.org/obo/HP_0033911 HP:0033918 biolink:PhenotypicFeature Renal arteriole medial hypertrophy Increased thickness of middle layer of the arterioles of the kidney. hp.json Medial hypertrophy within arterioles http://purl.obolibrary.org/obo/HP_0033918 HP:0033917 biolink:PhenotypicFeature Arcuate intimal/medial venulitis Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural. hp.json Venulitis within arcuate vein intima/media http://purl.obolibrary.org/obo/HP_0033917 HP:0033919 biolink:PhenotypicFeature Medial/intimal arcuate venulitis Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. hp.json http://purl.obolibrary.org/obo/HP_0033919 GO:0009185 biolink:BiologicalProcess ribonucleoside diphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar. hp.json ribonucleoside diphosphate metabolism http://purl.obolibrary.org/obo/GO_0009185 HP:0008959 biolink:PhenotypicFeature Distal upper limb muscle weakness Reduced strength of the distal musculature of the arms. UMLS:C3150620 hp.json http://purl.obolibrary.org/obo/HP_0008959 GO:0009179 biolink:BiologicalProcess purine ribonucleoside diphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside diphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with diphosphate on the sugar. hp.json purine ribonucleoside diphosphate metabolism http://purl.obolibrary.org/obo/GO_0009179 HP:0008954 biolink:PhenotypicFeature Intrinsic hand muscle atrophy Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. UMLS:C1864716 hp.json http://purl.obolibrary.org/obo/HP_0008954 HP:0008953 biolink:PhenotypicFeature Pectoralis major hypoplasia Underdevelopment of the pectoralis major. UMLS:C1840086 hp.json Pectoralis major muscle hypoplasia http://purl.obolibrary.org/obo/HP_0008953 HP:0008956 biolink:PhenotypicFeature Proximal lower limb amyotrophy Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. UMLS:C1836767 hp.json Thigh muscle atrophy|Proximal lower limb muscle atrophy|Wasting of thigh muscle|Amyotrophy involving the thigh|Amyotrophy of the thigh musculature http://purl.obolibrary.org/obo/HP_0008956 HP:0008955 biolink:PhenotypicFeature Progressive distal muscular atrophy Progressive muscular atrophy affecting muscles in the distal portions of the extremities. UMLS:C4024613 hp.json http://purl.obolibrary.org/obo/HP_0008955 HP:0008952 biolink:PhenotypicFeature Shoulder muscle hypoplasia Underdevelopment of muscles of the shoulder. UMLS:C1969001 hp.json Underdeveloped shoulder muscle http://purl.obolibrary.org/obo/HP_0008952 GO:0071169 biolink:BiologicalProcess establishment of protein localization to chromatin The directed movement of a protein to a part of a chromosome that is organized into chromatin. hp.json establishment of protein localisation to chromatin http://purl.obolibrary.org/obo/GO_0071169 GO:0071168 biolink:BiologicalProcess protein localization to chromatin Any process in which a protein is transported to, or maintained at, a part of a chromosome that is organized into chromatin. hp.json protein localisation to chromatin http://purl.obolibrary.org/obo/GO_0071168 GO:0010160 biolink:BiologicalProcess formation of animal organ boundary The regionalization process that specifies animal organ primordium boundaries resulting in a restriction of organogenesis to a limited spatial domain and keeping the organ separate from surrounding tissues. hp.json organ boundary specification http://purl.obolibrary.org/obo/GO_0010160 HP:0008969 biolink:PhenotypicFeature Leg muscle stiffness UMLS:C4024610 hp.json http://purl.obolibrary.org/obo/HP_0008969 HP:0008968 biolink:PhenotypicFeature Muscle hypertrophy of the lower extremities Muscle hypertrophy primarily affecting the legs. UMLS:C1850663 hp.json http://purl.obolibrary.org/obo/HP_0008968 HP:0006308 biolink:PhenotypicFeature Atrophy of alveolar ridges UMLS:C4280455|UMLS:C1855642|UMLS:C4280454 hp.json Alveolar bone loss|Resorption of alveolar processes of jaw|Atrophy of alveolar processes of jaw|Atrophy of alveolar margins|Resorption of alveolar margins|Flattening of alveolar processes of jaw|Resorption of alveolar ridges|Flattening of alveolar ridges|Shrinking of alveolar ridges|Flattening of alveolar margin|Flattening of gum ridges|Shrinking of gum ridges http://purl.obolibrary.org/obo/HP_0006308 HP:0006302 biolink:PhenotypicFeature Dagger-shaped pulp calcifications Dagger-shaped calcifications in the dental pulp. UMLS:C4025067 hp.json Dagger shaped pulp stones|Dagger shaped pulp denticles http://purl.obolibrary.org/obo/HP_0006302 HP:0008964 biolink:PhenotypicFeature Nonprogressive muscular atrophy Muscular atrophy that does not display a progression in severity with time. UMLS:C4024611 hp.json http://purl.obolibrary.org/obo/HP_0008964 HP:0008967 biolink:PhenotypicFeature Exercise-induced muscle stiffness A type of muscle stiffness that occurs following physical exertion. UMLS:C1855579 hp.json Exercise-induced muscle stiffness|Muscle stiffness with exercise|Muscle stiffness, exercise-induced http://purl.obolibrary.org/obo/HP_0008967 HP:0006304 biolink:PhenotypicFeature Widely-spaced incisors SNOMEDCT_US:196409003|UMLS:C0399545 hp.json Widely spaced front teeth|Gap between front teeth|Anterior diastema of teeth|Diastema between front teeth|Diastema between incisors http://purl.obolibrary.org/obo/HP_0006304 HP:0008963 biolink:PhenotypicFeature Tibialis muscle weakness Muscle weakness affecting the tibialis anterior muscle. UMLS:C4024612 hp.json http://purl.obolibrary.org/obo/HP_0008963 HP:0008962 biolink:PhenotypicFeature Calf muscle hypoplasia Underdevelopment of the muscuklature of the calf. UMLS:C3805450 hp.json Hypoplastic calf muscles|Underdeveloped calf muscles http://purl.obolibrary.org/obo/HP_0008962 GO:0010171 biolink:BiologicalProcess body morphogenesis The process in which the anatomical structures of the soma are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0010171 UBERON:0036073 biolink:AnatomicalEntity respiratory primordium mesenchyme EHDAA2:0004071 hp.json respiratory primordium associated mesenchyme http://purl.obolibrary.org/obo/UBERON_0036073 CHEBI:142590 biolink:ChemicalSubstance 3-aminoisobutanoic acid zwitterion Zwitterionic form of 3-aminoisobutyric acid arising from migration of a proton from the carboxy group to the amino group; major species at pH 7.3. hp.json 3-aminoisobutanoate|3-ammonio-2-methylpropanoate|3-azaniumyl-2-methylpropanoate http://purl.obolibrary.org/obo/CHEBI_142590 3_STAR UBERON:0036072 biolink:AnatomicalEntity respiratory primordium epithelium EHDAA2:0004070 hp.json http://purl.obolibrary.org/obo/UBERON_0036072 UBERON:0036074 biolink:AnatomicalEntity vein of vestibular aqueduct A vein that leaves the vestibule through an individual bone canal running parallel to the vestibular aqueduct up to the dura of the posterior side of the petrosa in the area of the endolymphatic sac. It then opens in the inferior petrosal sinus or the jugular bulb. The vein receives other branches from the bone, dura and sac. FMA:52367 hp.json vena aqueductus vestibuli|vestibular aqueduct vein http://purl.obolibrary.org/obo/UBERON_0036074 human_reference_atlas GO:0034110 biolink:BiologicalProcess regulation of homotypic cell-cell adhesion Any process that modulates the frequency, rate, or extent of homotypic cell-cell adhesion. hp.json http://purl.obolibrary.org/obo/GO_0034110 HP:0008936 biolink:PhenotypicFeature Axial hypotonia Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. UMLS:C1853743 hp.json Truncal hypotonia|Muscular hypotonia of the trunk|Low muscle tone in trunk http://purl.obolibrary.org/obo/HP_0008936 HP:0008935 biolink:PhenotypicFeature Generalized neonatal hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. UMLS:C1845123 hp.json Hypotonia, neonatal, generalized|Generalised neonatal hypotonia|Generalized low muscle tone in neonate|Generalised low muscle tone in neonate|Hypotonia, neonatal, generalised http://purl.obolibrary.org/obo/HP_0008935 GO:0034111 biolink:BiologicalProcess negative regulation of homotypic cell-cell adhesion Any process that stops, prevents, or reduces the frequency, rate, or extent of homotypic cell-cell adhesion. hp.json http://purl.obolibrary.org/obo/GO_0034111 GO:0034112 biolink:BiologicalProcess positive regulation of homotypic cell-cell adhesion Any process that activates or increases the frequency, rate, or extent of homotypic cell-cell adhesion. hp.json http://purl.obolibrary.org/obo/GO_0034112 GO:0034109 biolink:BiologicalProcess homotypic cell-cell adhesion The attachment of a cell to a second cell of the identical type via adhesion molecules. hp.json http://purl.obolibrary.org/obo/GO_0034109 HP:0008947 biolink:PhenotypicFeature Infantile muscular hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. UMLS:C1860834 hp.json Decreased muscle tone in infant|Hypotonia in infancy|Hypotonia early|Infantile hypotonia|Hypotonia, early http://purl.obolibrary.org/obo/HP_0008947 HP:0008946 biolink:PhenotypicFeature Pelvic girdle amyotrophy Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. UMLS:C4021528 hp.json Hip girdle amyotrophy http://purl.obolibrary.org/obo/HP_0008946 GO:0034101 biolink:BiologicalProcess erythrocyte homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. hp.json red blood cell homeostasis|RBC homeostasis http://purl.obolibrary.org/obo/GO_0034101 HP:0008948 biolink:PhenotypicFeature Proximal upper limb amyotrophy Muscular atrophy affecting proximally located muscles of the arms. UMLS:C1866013 hp.json Proximal muscle atrophy in upper limbs|Proximal upper limb muscle atrophy http://purl.obolibrary.org/obo/HP_0008948 GO:0034103 biolink:BiologicalProcess regulation of tissue remodeling Any process that modulates the frequency, rate, or extent of tissue remodeling. hp.json http://purl.obolibrary.org/obo/GO_0034103 HP:0008942 biolink:PhenotypicFeature Acute rhabdomyolysis An acute form of rhabdomyolysis. UMLS:C3807306 hp.json Rhabdomyolysis, acute http://purl.obolibrary.org/obo/HP_0008942 GO:0034104 biolink:BiologicalProcess negative regulation of tissue remodeling Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling. hp.json http://purl.obolibrary.org/obo/GO_0034104 HP:0008945 biolink:PhenotypicFeature Loss of ability to walk in early childhood UMLS:C1835993 hp.json http://purl.obolibrary.org/obo/HP_0008945 GO:0034105 biolink:BiologicalProcess positive regulation of tissue remodeling Any process that activates or increases the frequency, rate, or extent of tissue remodeling. hp.json http://purl.obolibrary.org/obo/GO_0034105 HP:0008944 biolink:PhenotypicFeature Distal lower limb amyotrophy Muscular atrophy of distal leg muscles. UMLS:C1836451|UMLS:C1866863|UMLS:C3806644 hp.json Lower limb degeneration|Lower limb atrophy|Muscle atrophy, lower limb, distal|Lower limb muscle hypotrophy|Lower leg amyotrophy http://purl.obolibrary.org/obo/HP_0008944 HP:0008940 biolink:PhenotypicFeature Generalized lymphadenopathy A generalized form of lymphadenopathy. SNOMEDCT_US:274741002|UMLS:C0476486 hp.json Generalised swelling of lymph nodes|Generalized swelling of lymph nodes|Generalised lymphadenopathy|Swollen lymph nodes affecting all regions of the body http://purl.obolibrary.org/obo/HP_0008940 GO:0048741 biolink:BiologicalProcess skeletal muscle fiber development The process whose specific outcome is the progression of the skeletal muscle fiber over time, from its formation to the mature structure. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. hp.json skeletal muscle fibre development|skeletal myofibre development|skeletal myofiber development http://purl.obolibrary.org/obo/GO_0048741 GO:0048742 biolink:BiologicalProcess regulation of skeletal muscle fiber development Any process that modulates the frequency, rate or extent of skeletal muscle fiber development. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. hp.json regulation of skeletal muscle fibre development|regulation of skeletal myofibre development|regulation of skeletal myofiber development http://purl.obolibrary.org/obo/GO_0048742 GO:1902816 biolink:BiologicalProcess regulation of protein localization to microtubule Any process that modulates the frequency, rate or extent of protein localization to microtubule. hp.json regulation of protein localisation to microtubule http://purl.obolibrary.org/obo/GO_1902816 GO:1902817 biolink:BiologicalProcess negative regulation of protein localization to microtubule Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to microtubule. hp.json inhibition of protein localisation to microtubule|downregulation of protein localisation to microtubule|down-regulation of protein localization to microtubule|down regulation of protein localization to microtubule|inhibition of protein localization to microtubule|down-regulation of protein localisation to microtubule|negative regulation of protein localisation to microtubule|downregulation of protein localization to microtubule|down regulation of protein localisation to microtubule http://purl.obolibrary.org/obo/GO_1902817 GO:0048743 biolink:BiologicalProcess positive regulation of skeletal muscle fiber development Any process that activates, maintains or increases the rate of skeletal muscle fiber development. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. hp.json up regulation of skeletal muscle fiber development|positive regulation of skeletal myofibre development|activation of skeletal muscle fiber development|stimulation of skeletal muscle fiber development|upregulation of skeletal muscle fiber development|positive regulation of skeletal myofiber development|positive regulation of skeletal muscle fibre development|up-regulation of skeletal muscle fiber development http://purl.obolibrary.org/obo/GO_0048743 GO:0048744 biolink:BiologicalProcess negative regulation of skeletal muscle fiber development Any process that stops, prevents, or reduces the frequency, rate or extent of skeletal muscle fiber development. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. hp.json negative regulation of skeletal muscle fibre development|negative regulation of skeletal myofibre development|down-regulation of skeletal muscle fiber development|down regulation of skeletal muscle fiber development|negative regulation of skeletal myofiber development|downregulation of skeletal muscle fiber development|inhibition of skeletal muscle fiber development http://purl.obolibrary.org/obo/GO_0048744 GO:0048745 biolink:BiologicalProcess smooth muscle tissue development The process whose specific outcome is the progression of smooth muscle over time, from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0048745 GO:1902810 biolink:BiologicalProcess negative regulation of skeletal muscle fiber differentiation Any process that stops, prevents or reduces the frequency, rate or extent of skeletal muscle fiber differentiation. hp.json down regulation of skeletal muscle fiber differentiation|inhibition of skeletal muscle fiber differentiation|downregulation of skeletal muscle fiber differentiation|down-regulation of skeletal muscle fiber differentiation http://purl.obolibrary.org/obo/GO_1902810 CHEBI:35418 biolink:ChemicalSubstance N-acetylneuraminate A ketoaldonate that is the conjugate base of N-acetylneuraminic acid, obtained by deprotonation of the carboxy group. MetaCyc:N-ACETYLNEURAMINATE|Reaxys:9227329 hp.json sialate|5-acetamido-3,5-dideoxy-D-galacto-non-2-ulopyranosonate|N-acetylneuraminate http://purl.obolibrary.org/obo/CHEBI_35418 3_STAR UBERON:0036013 biolink:AnatomicalEntity intergluteal cleft The line that divided the gluteal regions of the body. FMA:20234 hp.json natal cleft|crena analis|crena ani|anal cleft|crena interglutealis|intergluteal crease http://purl.obolibrary.org/obo/UBERON_0036013 pheno_slim GO:1902811 biolink:BiologicalProcess positive regulation of skeletal muscle fiber differentiation Any process that activates or increases the frequency, rate or extent of skeletal muscle fiber differentiation. hp.json up-regulation of skeletal muscle fiber differentiation|up regulation of skeletal muscle fiber differentiation|activation of skeletal muscle fiber differentiation|upregulation of skeletal muscle fiber differentiation http://purl.obolibrary.org/obo/GO_1902811 UBERON:0036014 biolink:AnatomicalEntity gluteal sulcus A horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg. FMA:20233 hp.json gluteal crease|horizontal gluteal crease|gluteal fold|sulcus glutealis http://purl.obolibrary.org/obo/UBERON_0036014 pheno_slim UBERON:0000060 biolink:AnatomicalEntity anatomical wall Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. EMAPA:25036|galen:Wall|FMA:82482 hp.json wall|wall of organ|organ wall http://purl.obolibrary.org/obo/UBERON_0000060 upper_level UBERON:0000061 biolink:AnatomicalEntity anatomical structure Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. EMAPA:0|HAO:0000003|ZFA:0000037|SCTID:362889002|TAO:0000037|FMA:305751|GAID:781|VHOG:0001759|XAO:0003000|EHDAA2:0003003|MA:0003000|FBbt:00007001|TGMA:0001823|BILA:0000003|AEO:0000003|CARO:0000003|http://dbpedia.org/ontology/AnatomicalStructure|FMA:67135|MESH:D000825|AAO:0010825 hp.json connected biological structure|biological structure http://purl.obolibrary.org/obo/UBERON_0000061 upper_level UBERON:0000062 biolink:AnatomicalEntity organ Anatomical structure that performs a specific function or group of functions [WP]. SCTID:272625005|UMLS:C0178784|EMAPA:35949|NCIT:C13018|EFO:0000634|OpenCyc:Mx4rwP3iWpwpEbGdrcN5Y29ycA|OpenCyc:Mx4rv5XMb5wpEbGdrcN5Y29ycA|MA:0003001|CARO:0020004|BIRNLEX:4|ENVO:01000162|Wikipedia:Organ_(anatomy)|FMA:67498|WBbt:0003760 hp.json body organ|element|element|anatomical unit http://purl.obolibrary.org/obo/UBERON_0000062 upper_level UBERON:0000063 biolink:AnatomicalEntity organ subunit A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. FMA:86140 hp.json organ segment|organ region with fixed fiat boundary|segment of organ http://purl.obolibrary.org/obo/UBERON_0000063 upper_level UBERON:0000068 biolink:AnatomicalEntity embryo stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. WBls:0000092|BilaDO:0000002|XAO:1000012|SCTID:296280003|WBls:0000102|WBls:0000003|FBdv:00005289|FMA:72652|MmusDv:0000002|EV:0300001|OGES:000022|OGES:000000|HsapDv:0000002 hp.json embryonic stage|embryogenesis http://purl.obolibrary.org/obo/UBERON_0000068 GO:0048749 biolink:BiologicalProcess compound eye development The process whose specific outcome is the progression of the compound eye over time, from its formation to the mature structure. The compound eye is an organ of sight that contains multiple repeating units, often arranged hexagonally. Each unit has its own lens and photoreceptor cell(s) and can generate either a single pixelated image or multiple images, per eye. hp.json insect-type retina development http://purl.obolibrary.org/obo/GO_0048749 GO:0061727 biolink:BiologicalProcess methylglyoxal catabolic process to lactate The chemical reactions and pathways resulting in the breakdown of methylglyoxal, CH3-CO-CHO, into lactate. hp.json http://purl.obolibrary.org/obo/GO_0061727 UBERON:0000064 biolink:AnatomicalEntity organ part A multicellular structure that is a part of an organ. SCTID:113343008|EFO:0000635|SCTID:91717005|AAO:0011124|FMA:82472|BIRNLEX:16 hp.json cardinal organ part|regional part of organ http://purl.obolibrary.org/obo/UBERON_0000064 non_informative|upper_level|efo_slim UBERON:0000065 biolink:AnatomicalEntity respiratory tract Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts. EHDAA2:0001606|EHDAA:2219|EHDAA:1568|FMA:265130|VHOG:0000393|SCTID:361110005|EMAPA:16737|OpenCyc:Mx4rvvM--pwpEbGdrcN5Y29ycA hp.json http://purl.obolibrary.org/obo/UBERON_0000065 UBERON:0000066 biolink:AnatomicalEntity fully formed stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. BTO:0001043|BilaDO:0000004|EFO:0001272|FBdv:00005369|XtroDO:0000084|WBls:0000041 hp.json fully formed animal stage|adult stage|juvenile-adult stage http://purl.obolibrary.org/obo/UBERON_0000066 efo_slim CHEBI:23443 biolink:ChemicalSubstance cyclic amide hp.json cyclic amides|cyclic amide http://purl.obolibrary.org/obo/CHEBI_23443 3_STAR GO:0048753 biolink:BiologicalProcess pigment granule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pigment granule. hp.json pigment granule organization and biogenesis|pigment granule organisation http://purl.obolibrary.org/obo/GO_0048753 goslim_pir UBERON:0014693 biolink:AnatomicalEntity inferior alveolar artery FMA:49695 hp.json http://purl.obolibrary.org/obo/UBERON_0014693 human_reference_atlas GO:0048754 biolink:BiologicalProcess branching morphogenesis of an epithelial tube The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. hp.json tubulogenesis http://purl.obolibrary.org/obo/GO_0048754 GO:0048755 biolink:BiologicalProcess branching morphogenesis of a nerve The process in which the anatomical structures of branches in a nerve are generated and organized. This term refers to an anatomical structure (nerve) not a cell (neuron). hp.json http://purl.obolibrary.org/obo/GO_0048755 UBERON:0014699 biolink:AnatomicalEntity extraembryonic venous system A venous system that overlaps a umbilical cord and is part of a entire extraembryonic component. EHDAA2:0000479|VHOG:0000282|EMAPA:16374 hp.json http://purl.obolibrary.org/obo/UBERON_0014699 UBERON:0014695 biolink:AnatomicalEntity deep auricular artery The deep auricular artery often arises in common with the anterior tympanic artery. It ascends in the substance of the parotid gland, behind the temporomandibular articulation, pierces the cartilaginous or bony wall of the external acoustic meatus, and supplies its cuticular lining and the outer surface of the tympanic membrane. It gives a branch to the temporomandibular joint. FMA:49689 hp.json http://purl.obolibrary.org/obo/UBERON_0014695 human_reference_atlas UBERON:0000057 biolink:AnatomicalEntity urethra The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening. GAID:390|MIAA:0000121|NCIT:C12417|MA:0000379|FMA:19667|VHOG:0001264|UMLS:C0041967|EMAPA:30901|CALOHA:TS-1132|galen:Urethra|EFO:0000931|XAO:0000153|BTO:0001426|OpenCyc:Mx4rvVjkypwpEbGdrcN5Y29ycA|MESH:D014521|EV:0100099|MAT:0000121 hp.json http://purl.obolibrary.org/obo/UBERON_0000057 efo_slim|uberon_slim|major_organ|organ_slim|pheno_slim UBERON:0000058 biolink:AnatomicalEntity duct A tubular structure that transports secreted or excreted substances. FMA:30320|UMLS:C0687028|NCIT:C12948|galen:Duct|ZFA:0005171|FBbt:00100314|SCTID:91726008|TAO:0005171|Wikipedia:Duct_(anatomy)|XAO:0004000|AAO:0011123 hp.json ducts|exocrine duct|exocrine gland duct|anatomical duct http://purl.obolibrary.org/obo/UBERON_0000058 grouping_class CHEBI:23449 biolink:ChemicalSubstance cyclic peptide hp.json peptide cyclique|Cyclopeptid|Zyklopeptid|peptido ciclico|cyclic peptides http://purl.obolibrary.org/obo/CHEBI_23449 3_STAR UBERON:0000059 biolink:AnatomicalEntity large intestine A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]. CALOHA:TS-1306|EV:0100077|AAO:0010396|MIAA:0000046|GAID:306|MESH:D007420|BTO:0000706|SCTID:181254001|VHOG:0000054|MA:0000333|UMLS:C0021851|galen:LargeIntestine|FMA:7201|NCIT:C12379|XAO:0000131|Wikipedia:Large_intestine_(anatomy)|EFO:0000840|OpenCyc:Mx4rvVkF5pwpEbGdrcN5Y29ycA|EMAPA:19252 hp.json intestinum crassum http://purl.obolibrary.org/obo/UBERON_0000059 efo_slim|human_reference_atlas|major_organ|organ_slim|pheno_slim UBERON:0024045 biolink:AnatomicalEntity white matter of the cerebellar cortex White matter that lies deep to the granular cell layer of the cerebellar cortex. It contains afferents to the cerebellar cortex and axons that run between the cerebellar cortex and the deep cerebellar nuclei. NLXANAT:20081249 hp.json white matter of the cerebellar cortex|white matter of the cerebellar cortex http://purl.obolibrary.org/obo/UBERON_0024045 UBERON:0000053 biolink:AnatomicalEntity macula lutea An oval area in the retina, usually located temporal to the posterior pole of the eye and slightly below the level of the optic disk. It is characterized by the presence of a yellow pigment diffusely permeating the inner layers, contains the fovea centralis in its center, and provides the best phototopic visual acuity. It is devoid of retinal blood vessels, except in its periphery, and receives nourishment from the choriocapillaris of the choroid. (From Cline et al., Dictionary of Visual Science, 4th ed). MA:0001306|UMLS:C0450295|MESH:D008266|EV:0100349|BIRNLEX:2540|GAID:909|UMLS:C0450295|FMA:58637|EMAPA:36516|NCIT:C33044|UMLS:C1284755|NCIT:C26464|BTO:0003015 hp.json macula flava retinae|macula retinae|macula|maculae http://purl.obolibrary.org/obo/UBERON_0000053 uberon_slim|pheno_slim UBERON:0000054 biolink:AnatomicalEntity macula Thickened areas of the saccule or utricle where the termination of the vestibular nerve occurs[MESH,modified]. MESH:D008267|GAID:777|ZFA:0000386|TAO:0000386 hp.json sensory macula|maculae|sensory patch|macula|acoustic maculae|acoustic macula http://purl.obolibrary.org/obo/UBERON_0000054 uberon_slim|pheno_slim UBERON:0000055 biolink:AnatomicalEntity vessel A tubular structure that contains, conveys body fluid, such as blood or lymph. hp.json http://purl.obolibrary.org/obo/UBERON_0000055 grouping_class|pheno_slim|human_reference_atlas UBERON:0000056 biolink:AnatomicalEntity ureter Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. EV:0100097|GAID:438|UMLS:C0041951|FMA:9704|MIAA:0000120|EHDAA:9341|NCIT:C12416|BTO:0001409|EMAPA:17950|MA:0000378|XAO:0000144|EHDAA2:0002139|VHOG:0000605|MESH:D014513|EFO:0000930|CALOHA:TS-1084|galen:Ureter|OpenCyc:Mx4rvhmm6JwpEbGdrcN5Y29ycA|AAO:0010254|MAT:0000120 hp.json metanephric duct http://purl.obolibrary.org/obo/UBERON_0000056 uberon_slim|major_organ|organ_slim|pheno_slim|efo_slim|human_reference_atlas GO:0048762 biolink:BiologicalProcess mesenchymal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. hp.json http://purl.obolibrary.org/obo/GO_0048762 UBERON:0014680 biolink:AnatomicalEntity distal interphalangeal joint of digit 5 A distal interphalangeal joint that is part of a digit 5. NCIT:C102294 hp.json distal interphalangeal joint 5|distal interphalangeal joint of digit V http://purl.obolibrary.org/obo/UBERON_0014680 GO:1902838 biolink:BiologicalProcess regulation of nuclear migration along microtubule Any process that modulates the frequency, rate or extent of nuclear migration along microtubule. hp.json regulation of transport of nucleus, microtubule-mediated|regulation of nucleus migration|regulation of microtubule-mediated nuclear migration|regulation of microtubule cytoskeleton-dependent nuclear positioning|regulation of nuclear migration, microtubule-mediated|regulation of nuclear movement, microtubule-mediated|regulation of transport of nucleus by microtubules|regulation of microtubule-dependent nuclear positioning|regulation of microtubule cytoskeleton-dependent nucleus positioning|regulation of microtubule-dependent nucleus positioning http://purl.obolibrary.org/obo/GO_1902838 GO:1902839 biolink:BiologicalProcess negative regulation of nuclear migration along microtubule Any process that stops, prevents or reduces the frequency, rate or extent of nuclear migration along microtubule. hp.json negative regulation of nuclear migration, microtubule-mediated|downregulation of transport of nucleus, microtubule-mediated|down-regulation of nuclear migration, microtubule-mediated|downregulation of microtubule-mediated nuclear migration|down-regulation of microtubule-dependent nuclear positioning|negative regulation of microtubule-dependent nuclear positioning|down-regulation of nuclear migration along microtubule|downregulation of microtubule cytoskeleton-dependent nuclear positioning|down regulation of nuclear migration, microtubule-mediated|down regulation of microtubule-dependent nuclear positioning|down-regulation of microtubule-dependent nucleus positioning|down regulation of nuclear migration along microtubule|negative regulation of microtubule-dependent nucleus positioning|downregulation of transport of nucleus by microtubules|down regulation of transport of nucleus, microtubule-mediated|inhibition of transport of nucleus, microtubule-mediated|down regulation of microtubule-mediated nuclear migration|downregulation of microtubule cytoskeleton-dependent nucleus positioning|inhibition of microtubule-mediated nuclear migration|inhibition of nuclear migration, microtubule-mediated|down regulation of microtubule cytoskeleton-dependent nuclear positioning|negative regulation of transport of nucleus, microtubule-mediated|downregulation of nuclear migration, microtubule-mediated|inhibition of microtubule-dependent nuclear positioning|inhibition of microtubule cytoskeleton-dependent nuclear positioning|down-regulation of transport of nucleus, microtubule-mediated|inhibition of nuclear migration along microtubule|down regulation of microtubule-dependent nucleus positioning|downregulation of nuclear migration along microtubule|down regulation of transport of nucleus by microtubules|negative regulation of microtubule-mediated nuclear migration|down-regulation of microtubule-mediated nuclear migration|downregulation of microtubule-dependent nuclear positioning|negative regulation of microtubule cytoskeleton-dependent nuclear positioning|down regulation of microtubule cytoskeleton-dependent nucleus positioning|inhibition of transport of nucleus by microtubules|down-regulation of microtubule cytoskeleton-dependent nuclear positioning|inhibition of microtubule-dependent nucleus positioning|inhibition of microtubule cytoskeleton-dependent nucleus positioning|downregulation of microtubule-dependent nucleus positioning|down-regulation of transport of nucleus by microtubules|negative regulation of transport of nucleus by microtubules|negative regulation of microtubule cytoskeleton-dependent nucleus positioning|down-regulation of microtubule cytoskeleton-dependent nucleus positioning http://purl.obolibrary.org/obo/GO_1902839 UBERON:0014687 biolink:AnatomicalEntity temporal sulcus Any of three grooves in the temporal lobe including the inferior, middle, and superior temporal sulci. NCIT:C33744|HBA:9377 hp.json temporal lobe sulcus|temporal lobe sulci http://purl.obolibrary.org/obo/UBERON_0014687 UBERON:0014686 biolink:AnatomicalEntity angular vein The angular vein formed by the junction of the frontal vein and supraorbital vein, runs obliquely downward, on the side of the root of the nose, to the level of the lower margin of the orbit, where it becomes the anterior facial vein. It receives the external nasal veins of the ala nasi, and communicates with the superior ophthalmic vein through the nasofrontal vein, thus establishing an important anastomosis between the anterior facial vein and the cavernous sinus. FMA:50893 hp.json http://purl.obolibrary.org/obo/UBERON_0014686 human_reference_atlas UBERON:0000047 biolink:AnatomicalEntity simple eye An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. TGMA:0000729|Wikipedia:Eye#Simple_eyes hp.json http://purl.obolibrary.org/obo/UBERON_0000047 uberon_slim|grouping_class UBERON:0000042 biolink:AnatomicalEntity serous membrane Multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. SCTID:362878009|Wikipedia:Serous_membrane|MESH:D012704|GAID:19|ZFA:0005425|TAO:0005425|NCIT:C13169|UMLS:C0036760|FMA:9581 hp.json tunica serosa|serosa|wall of serous sac|serosa http://purl.obolibrary.org/obo/UBERON_0000042 uberon_slim|vertebrate_core UBERON:0000043 biolink:AnatomicalEntity tendon Dense regular connective tissue that connects muscle to bone[VSAO]. galen:Tendon|SCTID:256667004|EMAPA:35854|OpenCyc:Mx4rvVjefJwpEbGdrcN5Y29ycA|ZFA:0005647|MA:0000115|VHOG:0001286|VSAO:0000073|FMA:9721|EV:0100149|EHDAA2:0003091|CALOHA:TS-1021|GAID:276|MESH:D013710|Wikipedia:Tendon|AEO:0000091|XAO:0000173|UMLS:C0039508|NCIT:C13045|BTO:0001356 hp.json sinew|sinew|tendo|tendo http://purl.obolibrary.org/obo/UBERON_0000043 uberon_slim|pheno_slim UBERON:0000045 biolink:AnatomicalEntity ganglion A biological tissue mass, most commonly a mass of nerve cell bodies. NCIT:C12719|BTO:0000497|EV:0100372|NLXANAT:100302|AEO:0000135|MIAA:0000343|ZFA:0000190|Wikipedia:Ganglion|MA:0002406|BAMS:G|VHOG:0000156|UMLS:C0017067|TGMA:0001016|TAO:0000190|WBbt:0005189|FMA:5884|CALOHA:TS-0397|MAT:0000207|AAO:0010426|EHDAA:2897|EFO:0000899|EMAPA:32846|MIAA:0000207|MESH:D005724|EHDAA:5621|MAT:0000343|XAO:0000209|EHDAA:4662|EHDAA2:0003135|EHDAA:918 hp.json ganglia|neural ganglion http://purl.obolibrary.org/obo/UBERON_0000045 efo_slim|uberon_slim|vertebrate_core|pheno_slim GO:0046110 biolink:BiologicalProcess xanthine metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. hp.json xanthine metabolism http://purl.obolibrary.org/obo/GO_0046110 UBERON:0014670 biolink:AnatomicalEntity distal interphalangeal joint of manual digit 4 FMA:35340 hp.json distal interphalangeal joint of ring finger|distal interphalangeal joint of manual digit IV http://purl.obolibrary.org/obo/UBERON_0014670 pheno_slim UBERON:0014671 biolink:AnatomicalEntity distal interphalangeal joint of manural digit 5 FMA:35343 hp.json distal interphalangeal joint of little finger|distal interphalangeal joint of manural digit V http://purl.obolibrary.org/obo/UBERON_0014671 UBERON:0000029 biolink:AnatomicalEntity lymph node Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph. galen:Lymphnode|ZFA_RETIRED:0005318|MAT:0000442|GAID:947|EFO:0000872|TAO_RETIRED:0005318|BTO:0000784|CALOHA:TS-0579|EMAPA:35523|EV:0100050|MA:0000139|UMLS:C0024204|MESH:D008198|NCIT:C12745|VHOG:0001273|OpenCyc:Mx4rwLPqLpwpEbGdrcN5Y29ycA|NCIT:C33027|FMA:5034 hp.json lymph gland|nodus lymphaticus http://purl.obolibrary.org/obo/UBERON_0000029 pheno_slim|efo_slim|human_reference_atlas|uberon_slim|vertebrate_core CHEBI:35406 biolink:ChemicalSubstance oxoanion An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen. hp.json oxoanion|oxoacid anions|oxoanions http://purl.obolibrary.org/obo/CHEBI_35406 3_STAR UBERON:0014677 biolink:AnatomicalEntity distal interphalangeal joint of digit 2 A distal interphalangeal joint that is part of a digit 2. NCIT:C102291 hp.json distal interphalangeal joint of digit II|distal interphalangeal joint 2 http://purl.obolibrary.org/obo/UBERON_0014677 UBERON:0014679 biolink:AnatomicalEntity distal interphalangeal joint of digit 4 A distal interphalangeal joint that is part of a digit 4. NCIT:C102293 hp.json distal interphalangeal joint of digit IV|distal interphalangeal joint 4 http://purl.obolibrary.org/obo/UBERON_0014679 UBERON:0014672 biolink:AnatomicalEntity distal interphalangeal joint of pedal digit 2 FMA:35369 hp.json distal interphalangeal joint of second toe|distal interphalangeal joint of second digit of foot|distal interphalangeal joint of pedal digit II http://purl.obolibrary.org/obo/UBERON_0014672 pheno_slim GO:1902840 biolink:BiologicalProcess positive regulation of nuclear migration along microtubule Any process that activates or increases the frequency, rate or extent of nuclear migration along microtubule. hp.json activation of transport of nucleus by microtubules|up-regulation of transport of nucleus by microtubules|upregulation of microtubule-dependent nucleus positioning|up-regulation of microtubule cytoskeleton-dependent nucleus positioning|activation of microtubule cytoskeleton-dependent nucleus positioning|up-regulation of nuclear migration, microtubule-mediated|upregulation of transport of nucleus, microtubule-mediated|up-regulation of nuclear migration along microtubule|upregulation of microtubule-mediated nuclear migration|up-regulation of microtubule-dependent nuclear positioning|upregulation of microtubule cytoskeleton-dependent nuclear positioning|up regulation of nuclear migration, microtubule-mediated|positive regulation of transport of nucleus, microtubule-mediated|up regulation of microtubule-dependent nuclear positioning|upregulation of transport of nucleus by microtubules|activation of nuclear migration, microtubule-mediated|up-regulation of microtubule-dependent nucleus positioning|up regulation of nuclear migration along microtubule|upregulation of microtubule cytoskeleton-dependent nucleus positioning|positive regulation of microtubule-mediated nuclear migration|activation of microtubule-dependent nuclear positioning|positive regulation of nuclear migration, microtubule-mediated|activation of nuclear migration along microtubule|positive regulation of microtubule cytoskeleton-dependent nuclear positioning|up regulation of transport of nucleus, microtubule-mediated|positive regulation of microtubule-dependent nuclear positioning|up regulation of microtubule-dependent nucleus positioning|up regulation of microtubule-mediated nuclear migration|up regulation of microtubule cytoskeleton-dependent nuclear positioning|activation of microtubule-dependent nucleus positioning|positive regulation of transport of nucleus by microtubules|positive regulation of microtubule cytoskeleton-dependent nucleus positioning|upregulation of nuclear migration, microtubule-mediated|up-regulation of transport of nucleus, microtubule-mediated|positive regulation of microtubule-dependent nucleus positioning|activation of transport of nucleus, microtubule-mediated|up-regulation of microtubule-mediated nuclear migration|up regulation of transport of nucleus by microtubules|activation of microtubule-mediated nuclear migration|upregulation of microtubule-dependent nuclear positioning|upregulation of nuclear migration along microtubule|up regulation of microtubule cytoskeleton-dependent nucleus positioning|up-regulation of microtubule cytoskeleton-dependent nuclear positioning|activation of microtubule cytoskeleton-dependent nuclear positioning http://purl.obolibrary.org/obo/GO_1902840 GO:0048770 biolink:CellularComponent pigment granule A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes. hp.json http://purl.obolibrary.org/obo/GO_0048770 UBERON:0014674 biolink:AnatomicalEntity distal interphalangeal joint of pedal digit 4 FMA:35387 hp.json distal interphalangeal joint of fourth toe|distal interphalangeal joint of pedal digit IV|distal interphalangeal joint of fourth digit of foot http://purl.obolibrary.org/obo/UBERON_0014674 pheno_slim GO:0046112 biolink:BiologicalProcess nucleobase biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleobase, a nitrogenous base that is a constituent of a nucleic acid. hp.json nucleobase anabolism|nucleobase biosynthesis|nucleobase synthesis|nucleobase formation http://purl.obolibrary.org/obo/GO_0046112 GO:0048771 biolink:BiologicalProcess tissue remodeling The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. hp.json http://purl.obolibrary.org/obo/GO_0048771 goslim_pir UBERON:0014675 biolink:AnatomicalEntity distal interphalangeal joint of pedal digit 5 FMA:35393 hp.json distal interphalangeal joint of fifth digit of foot|distal interphalangeal joint of pedal digit V|distal interphalangeal joint of little toe|distal interphalangeal joint of fifth toe http://purl.obolibrary.org/obo/UBERON_0014675 pheno_slim UBERON:0000030 biolink:AnatomicalEntity lamina propria A thin layer of loose connective tissue which lies beneath the epithelium and together with the epithelium constitutes the mucosa[WP]. The lamina propria contains capillaries and a central lacteal (lymph vessel) in the small intestine, as well as lymphoid tissue. Lamina propria also contains glands with the ducts opening on to the mucosal epithelium, that secrete mucus and serous secretions. SCTID:298225002|BTO:0002330|Wikipedia:Lamina_propria|FMA:62517|NCIT:C32918|UMLS:C1179187 hp.json lamina propria mucosa|lamina propria mucosae|tunica propria http://purl.obolibrary.org/obo/UBERON_0000030 uberon_slim UBERON:0000031 biolink:AnatomicalEntity lamina propria of trachea A lamina propria that is part of a respiratory airway. EMAPA:35877|MA:0001858|FMA:265157|UMLS:C1710457|NCIT:C49305 hp.json trachea lamina propria|lamina propria mucosa of windpipe|windpipe lamina propria|lamina propria mucosa of trachea|tracheal lamina propria|windpipe lamina propria mucosa|lamina propria mucosae of trachea|lamina propria mucosae of windpipe|trachea lamina propria mucosa|lamina propria of windpipe|trachea lamina propria mucosae|windpipe lamina propria mucosae http://purl.obolibrary.org/obo/UBERON_0000031 UBERON:0000033 biolink:AnatomicalEntity head The head is the anterior-most division of the body [GO]. BILA:0000115|SCTID:302548004|UMLS:C0018670|VHOG:0001644|MESH:D006257|CALOHA:TS-0436|Wikipedia:Head|MAT:0000294|SPD:0000016|NCIT:C12419|OpenCyc:Mx4rEOLm4rgPEdmAAAACs6hRjg|OpenCyc:Mx4rvVi6YJwpEbGdrcN5Y29ycA|FBbt:00000004|GAID:61|BTO:0000282|MIAA:0000294|TGMA:0000002|galen:Head|ZFA:0001114|UMLS:C0018670|EMAPA:31858|HAO:0000397|BIRNLEX:1230|WBbt:0005739|EHDAA2:0003106|TAO:0001114|MA:0000023|AAO:0010335|EFO:0000964|XAO:0003024|FMA:7154|AEO:0000106 hp.json head (volume)|adult head|cephalic area http://purl.obolibrary.org/obo/UBERON_0000033 efo_slim|uberon_slim|vertebrate_core|pheno_slim UBERON:0012082 biolink:AnatomicalEntity bronchial lumen An anatomical cavity that is part of a bronchus. FMA:62646 hp.json bronchial lumen|lumen of bronchus http://purl.obolibrary.org/obo/UBERON_0012082 UBERON:0012081 biolink:AnatomicalEntity patella pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a patella. EMAPA:18510 hp.json http://purl.obolibrary.org/obo/UBERON_0012081 UBERON:0012080 biolink:AnatomicalEntity patella cartilage element A cartilaginous condensation that has the potential to develop into a patella. EMAPA:19140 hp.json http://purl.obolibrary.org/obo/UBERON_0012080 GO:1902850 biolink:BiologicalProcess microtubule cytoskeleton organization involved in mitosis Any microtubule cytoskeleton organization that is involved in mitosis. hp.json microtubule dynamics involved in mitosis|microtubule cytoskeleton organization and biogenesis involved in mitosis|microtubule cytoskeleton organisation involved in mitosis http://purl.obolibrary.org/obo/GO_1902850 GO:0097711 biolink:BiologicalProcess ciliary basal body-plasma membrane docking The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. Reactome:R-HSA-5620912.1 hp.json anchoring of the basal body to the plasma membrane|ciliary basal body docking http://purl.obolibrary.org/obo/GO_0097711 GO:0097712 biolink:BiologicalProcess vesicle targeting, trans-Golgi to periciliary membrane compartment The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. hp.json http://purl.obolibrary.org/obo/GO_0097712 UBERON:0012071 biolink:AnatomicalEntity palate bone Any bone that is part of a palate. EMAPA:37930|UMLS:C1518857|NCIT:C33248 hp.json palatal bone http://purl.obolibrary.org/obo/UBERON_0012071 pheno_slim UBERON:0012070 biolink:AnatomicalEntity palatal tooth A tooth that is on the roof of the mouth. hp.json palatal teeth http://purl.obolibrary.org/obo/UBERON_0012070 GO:0048799 biolink:BiologicalProcess animal organ maturation A developmental process, independent of morphogenetic (shape) change, that is required for an animal organ to attain its fully functional state. An organ is a tissue or set of tissues that work together to perform a specific function or functions. hp.json http://purl.obolibrary.org/obo/GO_0048799 UBERON:0012075 biolink:AnatomicalEntity replacement bone Bone that forms as a replacement of another structural tissue. ZFA:0001628|TAO:0001637|AAO:0010768 hp.json replacement bones http://purl.obolibrary.org/obo/UBERON_0012075 UBERON:0012074 biolink:AnatomicalEntity bony part of hard palate A subdivision of skeletal system that subdivision_of a hard palate. EMAPA:37444|FMA:59857 hp.json palatum osseum|bony palate|hard palate skeleton http://purl.obolibrary.org/obo/UBERON_0012074 pheno_slim GO:1902867 biolink:BiologicalProcess negative regulation of retina development in camera-type eye Any process that stops, prevents or reduces the frequency, rate or extent of retina development in camera-type eye. hp.json down regulation of retina development in camera-type eye|downregulation of retina development in camera-style eye|inhibition of retina development in camera-type eye|downregulation of retina development in camera-type eye|inhibition of retinal development|down regulation of retina development in camera-style eye|inhibition of retina development in camera-style eye|down-regulation of retinal development|down-regulation of retina development in camera-style eye|negative regulation of retinal development|negative regulation of retina development in camera-style eye|down regulation of retinal development|down-regulation of retina development in camera-type eye|downregulation of retinal development http://purl.obolibrary.org/obo/GO_1902867 HGNC:9606 biolink:Gene PTH (human) A protein coding gene PTH in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9606 UBERON:0012073 biolink:AnatomicalEntity tooth of palatine bone A tooth that is attached to a palatine bone. hp.json palatine tooth|palatine teeth http://purl.obolibrary.org/obo/UBERON_0012073 GO:1902868 biolink:BiologicalProcess positive regulation of retina development in camera-type eye Any process that activates or increases the frequency, rate or extent of retina development in camera-type eye. hp.json up-regulation of retina development in camera-style eye|up regulation of retinal development|activation of retina development in camera-style eye|positive regulation of retinal development|up-regulation of retina development in camera-type eye|upregulation of retinal development|up regulation of retina development in camera-type eye|upregulation of retina development in camera-style eye|activation of retina development in camera-type eye|activation of retinal development|positive regulation of retina development in camera-style eye|upregulation of retina development in camera-type eye|up-regulation of retinal development|up regulation of retina development in camera-style eye http://purl.obolibrary.org/obo/GO_1902868 UBERON:0012072 biolink:AnatomicalEntity palatal part of dermatocranium hp.json palatal series|dermatocranium, palatal series http://purl.obolibrary.org/obo/UBERON_0012072 GO:1902865 biolink:BiologicalProcess positive regulation of embryonic camera-type eye development Any process that activates or increases the frequency, rate or extent of embryonic camera-type eye development. hp.json up regulation of embryonic camera-type eye development|activation of embryonic camera-type eye development|up regulation of embryonic eye development|activation of embryonic eye development|positive regulation of embryonic eye development|upregulation of embryonic camera-type eye development|upregulation of embryonic eye development|up-regulation of embryonic camera-type eye development|up-regulation of embryonic eye development http://purl.obolibrary.org/obo/GO_1902865 GO:1902866 biolink:BiologicalProcess regulation of retina development in camera-type eye Any process that modulates the frequency, rate or extent of retina development in camera-type eye. hp.json regulation of retina development in camera-style eye|regulation of retinal development http://purl.obolibrary.org/obo/GO_1902866 GO:1902863 biolink:BiologicalProcess regulation of embryonic camera-type eye development Any process that modulates the frequency, rate or extent of embryonic camera-type eye development. hp.json regulation of embryonic eye development http://purl.obolibrary.org/obo/GO_1902863 GO:0046137 biolink:BiologicalProcess negative regulation of vitamin metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. hp.json downregulation of vitamin metabolic process|inhibition of vitamin metabolic process|down-regulation of vitamin metabolic process|negative regulation of vitamin metabolism|down regulation of vitamin metabolic process http://purl.obolibrary.org/obo/GO_0046137 GO:1902864 biolink:BiologicalProcess negative regulation of embryonic camera-type eye development Any process that stops, prevents or reduces the frequency, rate or extent of embryonic camera-type eye development. hp.json down-regulation of embryonic camera-type eye development|down-regulation of embryonic eye development|negative regulation of embryonic eye development|down regulation of embryonic camera-type eye development|down regulation of embryonic eye development|inhibition of embryonic camera-type eye development|downregulation of embryonic camera-type eye development|inhibition of embryonic eye development|downregulation of embryonic eye development http://purl.obolibrary.org/obo/GO_1902864 UBERON:0012076 biolink:AnatomicalEntity tibiotalar joint A skeletal joint that connects a tibia and connects a talus. hp.json ankle joint|talotibial joint|tibioastragalar joint http://purl.obolibrary.org/obo/UBERON_0012076 GO:0046136 biolink:BiologicalProcess positive regulation of vitamin metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. hp.json positive regulation of vitamin metabolism|up-regulation of vitamin metabolic process|up regulation of vitamin metabolic process|activation of vitamin metabolic process|stimulation of vitamin metabolic process|upregulation of vitamin metabolic process http://purl.obolibrary.org/obo/GO_0046136 UBERON:0000093 biolink:AnatomicalEntity sulcus A depression or fissure in the surface of an organ. hp.json http://purl.obolibrary.org/obo/UBERON_0000093 grouping_class|non_informative UBERON:0000094 biolink:AnatomicalEntity membrane organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]. FMA:7145 hp.json membrane|membrane of organ http://purl.obolibrary.org/obo/UBERON_0000094 UBERON:0000095 biolink:AnatomicalEntity cardiac neural crest Portion of neural crest that develops from the dorsal neural tube. It overlaps the vagal neural crest and migrates to populate the pharyngeal arches 3, 4 and 6 (producing structures in the head) and to the heart, forming connective tissue that separates the great vessels of the heart. [Wikipedia]. ZFA:0001648|TAO:0002173|XAO:0004190|Wikipedia:Cardiac_neural_crest hp.json cardiac neural crest complex|cardiac neural crest complex|complexus cristae neuralis cardiacus|complexus cristae neuralis cardiacus http://purl.obolibrary.org/obo/UBERON_0000095 vertebrate_core UBERON:0000091 biolink:AnatomicalEntity bilaminar disc A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. FMA:293863|NCIT:C34112|Wikipedia:Bilaminar_disc|UMLS:C1283997 hp.json bilaminar disk|embryonic shield|bilaminary embryonic disc|germinal disc|embryonic disc|bilaminar disk|bilaminary germ disc|germinal disk http://purl.obolibrary.org/obo/UBERON_0000091 pheno_slim|early_development UBERON:0000092 biolink:AnatomicalEntity post-embryonic stage Stage succeeding embryo, including mature structure. WBls:0000022|OGES:000014|OGES:000024|OGES:000010|WBls:0000093|BilaDO:0000003|WBls:0000103 hp.json postembryonic stage|postembryonic|post-hatching stage http://purl.obolibrary.org/obo/UBERON_0000092 GO:0097722 biolink:BiologicalProcess sperm motility Any process involved in the controlled movement of a sperm cell. hp.json sperm movement http://purl.obolibrary.org/obo/GO_0097722 gocheck_do_not_annotate GO:1902876 biolink:BiologicalProcess negative regulation of embryonic pattern specification Any process that stops, prevents or reduces the frequency, rate or extent of embryonic pattern specification. hp.json down-regulation of embryonic pattern specification|downregulation of ventral/lateral system|down regulation of embryonic pattern specification|down regulation of ventral/lateral system|inhibition of embryonic pattern specification|down-regulation of ventral/lateral system|downregulation of embryonic pattern specification|negative regulation of ventral/lateral system|inhibition of ventral/lateral system http://purl.obolibrary.org/obo/GO_1902876 GO:1902877 biolink:BiologicalProcess positive regulation of embryonic pattern specification Any process that activates or increases the frequency, rate or extent of embryonic pattern specification. hp.json up-regulation of ventral/lateral system|upregulation of embryonic pattern specification|activation of ventral/lateral system|upregulation of ventral/lateral system|up-regulation of embryonic pattern specification|up regulation of embryonic pattern specification|positive regulation of ventral/lateral system|activation of embryonic pattern specification|up regulation of ventral/lateral system http://purl.obolibrary.org/obo/GO_1902877 GO:0046148 biolink:BiologicalProcess pigment biosynthetic process The chemical reactions and pathways resulting in the formation of a pigment, any general or particular coloring matter in living organisms, e.g. melanin. hp.json pigment biosynthesis|pigment synthesis|pigment formation|pigment anabolism http://purl.obolibrary.org/obo/GO_0046148 GO:1902875 biolink:BiologicalProcess regulation of embryonic pattern specification Any process that modulates the frequency, rate or extent of embryonic pattern specification. hp.json regulation of ventral/lateral system|regulation of embryonic pattern formation|regulation of embryonic pattern biosynthesis http://purl.obolibrary.org/obo/GO_1902875 UBERON:0012069 biolink:AnatomicalEntity epithelium-associated lymphoid tissue FMA:62811 hp.json http://purl.obolibrary.org/obo/UBERON_0012069 UBERON:0000083 biolink:AnatomicalEntity mesonephric tubule A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. AAO:0010389|EHDAA2:0001134|EMAPA:16747|VHOG:0000500|XAO:0000148 hp.json renal tubules|tubuli mesonephrici http://purl.obolibrary.org/obo/UBERON_0000083 UBERON:0000084 biolink:AnatomicalEntity ureteric bud An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]. EHDAA:3091|BTO:0001646|UMLS:C1284058|EMAPA:17209|EHDAA:5917|EHDAA2:0002140|VHOG:0000541|NCIT:C34207 hp.json ureteric ampulla|metanephric bud|metanephric diverticulum|gemma ureterica|ureteric diverticulum|diverticulum metanephricum|diverticulum http://purl.obolibrary.org/obo/UBERON_0000084 pheno_slim UBERON:0000085 biolink:AnatomicalEntity morula A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. Wikipedia:Morula|EHDAA2:0000005|NCIT:C34212|FMA:292334|UMLS:C0026573|SCTID:361474003|MESH:D009028|GAID:1295|BTO:0001508 hp.json morula (2-16 cells) http://purl.obolibrary.org/obo/UBERON_0000085 pheno_slim UBERON:0000080 biolink:AnatomicalEntity mesonephros The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. XAO:0000141|NCIT:C26467|ZFA:0000529|EHDAA:1581|CALOHA:TS-0624|VHOG:0000038|BTO:0001542|AAO:0010384|TAO:0000529|UMLS:C0025492|EHDAA2:0001130|EFO:0000928|EMAPA:16744|EHDAA:5903|FMA:72171|GAID:1308|MESH:D001755 hp.json mesonephroi|amphibian adult kidney|mesonephric kidney|opisthonephros|opisto nephros|corpus Wolffi|Wolffian body|opistonephros|middle kidney http://purl.obolibrary.org/obo/UBERON_0000080 organ_slim|pheno_slim|efo_slim|vertebrate_core UBERON:0000081 biolink:AnatomicalEntity metanephros In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]. EHDAA2:0001137|EMAPA:17373|EHDAA:3089|BTO:0001543|VHOG:0000039|NCIT:C34209|FMA:72172|UMLS:C0231049|EMAPA_RETIRED:17207|EHDAA:5911 hp.json hind kidney|metanephric kidney|metanephron|definite kidney|definitive kidney http://purl.obolibrary.org/obo/UBERON_0000081 organ_slim|pheno_slim UBERON:0000086 biolink:AnatomicalEntity zona pellucida A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. GAID:410|EMAPA:16035|NCIT:C33896|FMA:18674|ZFA:0001111|TAO:0001111|EHDAA:31|UMLS:C0043519|EHDAA2:0002220|VHOG:0000720|EHDAA:62|MA:0001715|MESH:D015044|BTO:0003135|Wikipedia:Zona_pellucida hp.json vitelline envelope|zona radiata|pellucid zone|zona striata|striated membrane|vitelline membrane|oolemma|zona pellucida - vitelline membrane http://purl.obolibrary.org/obo/UBERON_0000086 vertebrate_core|pheno_slim|human_reference_atlas UBERON:0000087 biolink:AnatomicalEntity inner cell mass A mass of cells that develop into the body of the embryo and some extraembryonic tissues. UMLS:C1283994|EHDAA2:0000830|EFO:0000547|FMA:86557|NCIT:C13740|EMAPA:16041|Wikipedia:Inner_cell_mass|EHDAA:40|SCTID:361456007|VHOG:0000742 hp.json embryoblastus; massa cellularis interna; pluriblastus senior|ICM|embryoblastus; massa cellularis interna; pluriblastus senior|embryoblast|pluriblast|early embryoblast http://purl.obolibrary.org/obo/UBERON_0000087 pheno_slim|early_development|efo_slim UBERON:0000088 biolink:AnatomicalEntity trophoblast The mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta. Wikipedia:Trophoblast|UMLS:C0041178|MESH:D014327|FMA:83029|SCTID:362839005|NCIT:C93292|CALOHA:TS-1070|EV:0100120|BTO:0001079|GAID:1152 hp.json trophoblastus|massa cellularis externa|trophoderm|massa cellularis externa|trophoblastus|trophoblast layer http://purl.obolibrary.org/obo/UBERON_0000088 pheno_slim|early_development UBERON:0012054 biolink:AnatomicalEntity myocoele The cavity within a myotome. VHOG:0001283|EMAPA:31134 hp.json http://purl.obolibrary.org/obo/UBERON_0012054 UBERON:0000071 biolink:AnatomicalEntity death stage End of the life of an organism. XtroDO:0000085|XAO:0000437 hp.json death http://purl.obolibrary.org/obo/UBERON_0000071 UBERON:0000072 biolink:AnatomicalEntity proximo-distal subdivision of respiratory tract An section of a respiratory tract. FMA:45660|MA:0000434|EMAPA:16737 hp.json respiratory tract|subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0000072 non_informative UBERON:0000073 biolink:AnatomicalEntity regional part of nervous system Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. UMLS:C1518256|SCTID:25087005|NCIT:C13040|BIRNLEX:1157 hp.json part of nervous system http://purl.obolibrary.org/obo/UBERON_0000073 non_informative|upper_level UBERON:0000074 biolink:AnatomicalEntity renal glomerulus A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. ZFA:0001288|TAO:0001288|EFO:0003667|MESH:D007678|EV:0100386|BTO:0000530|EMAPA:28329|FMA:15624|UMLS:C0022663|CALOHA:TS-0862|NCIT:C13250|MA:0001657 hp.json renal glomeruli|renal corpuscle|Malpighian tuft|glomerular tuft|glomerulus|Malphigian glomerulus|glomerular capillary tuft|glomerulus renis|Malpighian glomerulus http://purl.obolibrary.org/obo/UBERON_0000074 vertebrate_core|pheno_slim|efo_slim GO:0097708 biolink:CellularComponent intracellular vesicle Any vesicle that is part of the intracellular region. hp.json http://purl.obolibrary.org/obo/GO_0097708 UBERON:0000079 biolink:AnatomicalEntity male reproductive system The organs associated with producing offspring in the gender that produces spermatozoa. CALOHA:TS-1310|MESH:D005837|BTO:0000082|NCIT:C12722|XAO:0000155|GAID:386|UMLS:C1963704|MA:0000396|VHOG:0000725|EV:0100101|UMLS:C0017422|OpenCyc:Mx4rvViCepwpEbGdrcN5Y29ycA|HAO:0000505|FBbt:00004927|EFO:0000970|EHDAA:8136|EMAPA:17968|EHDAA2:0001054|TGMA:0000634|FMA:45664 hp.json male genital tract|male genitals|genitalia of male organism|male genital system|male genitalia|systema genitale masculinum|reproductive system of male organism|male organism reproductive system|male reproductive tract|male organism genitalia|male genital organ http://purl.obolibrary.org/obo/UBERON_0000079 pheno_slim|efo_slim UBERON:0000075 biolink:AnatomicalEntity subdivision of skeletal system Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. UMLS:C1519343|galen:ComplexSkeletalStructure|FMA:85544|NCIT:C34076|SCTID:118966000 hp.json skeletal system subdivision|skeletal system part http://purl.obolibrary.org/obo/UBERON_0000075 non_informative UBERON:0000076 biolink:AnatomicalEntity external ectoderm The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. EHDAA:4796|FMA:87656|EMAPA:16096|EHDAA:4784|EHDAA:1494|Wikipedia:External_ectoderm|EHDAA:350|UMLS:C1515087|EHDAA:7860|EHDAA:4790|NCIT:C34309|EHDAA2:0001968 hp.json surface ectoderm|surface (external) ectoderm http://purl.obolibrary.org/obo/UBERON_0000076 pheno_slim UBERON:0000077 biolink:AnatomicalEntity mixed endoderm/mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. hp.json http://purl.obolibrary.org/obo/UBERON_0000077 grouping_class UBERON:0000078 biolink:AnatomicalEntity mixed ectoderm/mesoderm/endoderm-derived structure An anatomical structure that develops from the ectoderm, mesoderm and endoderm. hp.json http://purl.obolibrary.org/obo/UBERON_0000078 grouping_class OBO:uberon/core#synapsed_by biolink:NamedThing synapsed by Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. hp.json http://purl.obolibrary.org/obo/uberon/core#synapsed_by CHEBI:23390 biolink:ChemicalSubstance cobalt-corrinoid hexaamide hp.json http://purl.obolibrary.org/obo/CHEBI_23390 1_STAR UBERON:0000102 biolink:AnatomicalEntity lung vasculature The lung vasculature is composed of the tubule structures that carry blood or lymph in the lungs[GO]. FMA:73750 hp.json pulmonary vasculature|lung vascular network|vasculature of lung|vascular network of lung http://purl.obolibrary.org/obo/UBERON_0000102 pheno_slim UBERON:0000104 biolink:AnatomicalEntity life cycle An entire span of an organism's life, commencing with the zygote stage and ending in the death of the organism. ncithesaurus:Life|FBdv:00000000|MmusDv:0000001|OGES:000011|HsapDv:0000001 hp.json entire life cycle|life|lifespan|entire lifespan http://purl.obolibrary.org/obo/UBERON_0000104 upper_level UBERON:0002749 biolink:AnatomicalEntity regional part of cerebellar cortex A regional part of brain that is part of a cerebellar cortex [Automatically generated definition]. BIRNLEX:1571|FMA:76924 hp.json cerebellar cortical segment|segment of cerebellar cortex http://purl.obolibrary.org/obo/UBERON_0002749 non_informative GO:0009306 biolink:BiologicalProcess protein secretion The controlled release of proteins from a cell. hp.json protein secretion resulting in cell fate commitment|protein secretion during cell fate commitment|glycoprotein secretion http://purl.obolibrary.org/obo/GO_0009306 GO:0009308 biolink:BiologicalProcess amine metabolic process The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. hp.json amine metabolism http://purl.obolibrary.org/obo/GO_0009308 goslim_pir|goslim_chembl CHEBI:35381 biolink:ChemicalSubstance monosaccharide Parent monosaccharides are polyhydroxy aldehydes H[CH(OH)]nC(=O)H or polyhydroxy ketones H-[CHOH]n-C(=O)[CHOH]m-H with three or more carbon atoms. The generic term 'monosaccharide' (as opposed to oligosaccharide or polysaccharide) denotes a single unit, without glycosidic connection to other such units. It includes aldoses, dialdoses, aldoketoses, ketoses and diketoses, as well as deoxy sugars, provided that the parent compound has a (potential) carbonyl group. KEGG:C06698 hp.json monosaccharides|Monosaccharid|monosacaridos|Monosacharid|monosacarido|Monosaccharide http://purl.obolibrary.org/obo/CHEBI_35381 3_STAR GO:0009309 biolink:BiologicalProcess amine biosynthetic process The chemical reactions and pathways resulting in the formation of any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. hp.json amine anabolism|amine synthesis|amine biosynthesis|amine formation http://purl.obolibrary.org/obo/GO_0009309 CHEBI:50996 biolink:ChemicalSubstance tertiary amino compound A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups. hp.json tertiary amino compounds http://purl.obolibrary.org/obo/CHEBI_50996 3_STAR CHEBI:50994 biolink:ChemicalSubstance primary amino compound A compound formally derived from ammonia by replacing one hydrogen atom by an organyl group. hp.json primary amino compounds http://purl.obolibrary.org/obo/CHEBI_50994 3_STAR PATO:0000389 biolink:NamedThing acute A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course. hp.json http://purl.obolibrary.org/obo/PATO_0000389 hpo_slim|value_slim|mpath_slim UBERON:0014720 biolink:AnatomicalEntity interlobar duct A duct that is located between lobes, within conspicuous, thick connective tissue septa that separate lobes. All interlobar ducts are excretory. hp.json intralobular ductule http://purl.obolibrary.org/obo/UBERON_0014720 PATO:0000381 biolink:NamedThing decreased frequency A frequency which is relatively low. hp.json infrequent|low frequency http://purl.obolibrary.org/obo/PATO_0000381 value_slim|mpath_slim UBERON:0014717 biolink:AnatomicalEntity mucous acinus The secretory unit of a mucous gland. The acinar portion is composed of mucous secreting cells. FMA:86278 hp.json acinus of mucuous gland|mucus acinus http://purl.obolibrary.org/obo/UBERON_0014717 PATO:0000380 biolink:NamedThing increased frequency A frequency which is relatively high. hp.json high frequency|frequent http://purl.obolibrary.org/obo/PATO_0000380 value_slim|mpath_slim UBERON:0014719 biolink:AnatomicalEntity intralobular duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular. hp.json intralobular ductule http://purl.obolibrary.org/obo/UBERON_0014719 human_reference_atlas PR:Q9QUM4 biolink:Protein signaling lymphocytic activation molecule (mouse) A SLAM family member 1 that is encoded in the genome of mouse. UniProtKB:Q9QUM4 hp.json Slam|Slamf1|mSLAMF1|SLAM family member 1 (mouse)|CD150 (mouse) http://purl.obolibrary.org/obo/PR_Q9QUM4 PATO:0000387 biolink:NamedThing soft A hardness quality of giving little resistance to pressure. hp.json http://purl.obolibrary.org/obo/PATO_0000387 disposition_slim|value_slim|mpath_slim GO:0061900 biolink:BiologicalProcess glial cell activation A change in morphology and behavior of a glial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. hp.json http://purl.obolibrary.org/obo/GO_0061900 UBERON:0014716 biolink:AnatomicalEntity interlobular duct A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. NCIT:C32828 hp.json http://purl.obolibrary.org/obo/UBERON_0014716 human_reference_atlas PATO:0000386 biolink:NamedThing hard A hardness quality of being rigid and resistant to pressure. hp.json firm|tough|impenetrable http://purl.obolibrary.org/obo/PATO_0000386 disposition_slim|value_slim|mpath_slim UBERON:0002742 biolink:AnatomicalEntity lamina of septum pellucidum One of two layers of both white and gray matter of the septum pellucidum. During fetal development there is a space between the two laminae called the cavum septum pellucidum which, in ninety per cent of cases, disappears during infancy. FMA:62472|BIRNLEX:1554|UMLS:C0152278|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=258|BAMS:lsp hp.json lamina septi pellucidi|lamina of the septum pellucidum|septum pellucidum lamina|laminae septi pellucidi http://purl.obolibrary.org/obo/UBERON_0002742 pheno_slim UBERON:0002743 biolink:AnatomicalEntity basal forebrain A region of the brain consisting of ventral and rostral subcortical regions of the telencephalon, including among others, the basal ganglia, septal nuclei, amygdala, ventral pallidum, substantia innominata, and basal nucleus of Meynert. PBA:128012976|HBA:4300|DHBA:10349|EMAPA:35164|BIRNLEX:1560|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1997|MESH:D066187|FMA:77700|BTO:0002444|BAMS:Basal_forebrain|BM:Tel-BF hp.json basal forebrain area|pars basalis telencephali http://purl.obolibrary.org/obo/UBERON_0002743 uberon_slim|human_reference_atlas CHEBI:59326 biolink:ChemicalSubstance prostaglandin carboxylic acid anion A prostanoid anion obtained by deprotonation of the carboxy group of any prostaglandin. hp.json prostaglandin carboxylic acid anions http://purl.obolibrary.org/obo/CHEBI_59326 3_STAR CHEBI:35350 biolink:ChemicalSubstance hydroxy steroid KEGG:C02159 hp.json hydroxysteroids|hydroxy steroids|Hydroxysteroid http://purl.obolibrary.org/obo/CHEBI_35350 3_STAR CHEBI:35352 biolink:ChemicalSubstance organonitrogen compound Any heteroorganic entity containing at least one carbon-nitrogen bond. hp.json organonitrogens|organonitrogen compounds http://purl.obolibrary.org/obo/CHEBI_35352 3_STAR UBERON:0002726 biolink:AnatomicalEntity cervical spinal cord A spinal cord segment that adjacent_to a cervical region. UMLS:C0581619|UMLS:C0581619|FMA:71166|NCIT:C12892|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1654|BIRNLEX:1499|UMLS:C1278837|MA:0003081|SCTID:180960003 hp.json cervical segments of spinal cord [1-8]|cervical spinal cord|cervical segment of spinal cord|segmenta cervicalia medullae spinalis [1-8|pars cervicalis medullae spinalis http://purl.obolibrary.org/obo/UBERON_0002726 GO:0048934 biolink:BiologicalProcess peripheral nervous system neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron whose cell body resides in the peripheral nervous system. hp.json http://purl.obolibrary.org/obo/GO_0048934 PR:Q9QUM0 biolink:Protein integrin alpha-IIb (mouse) An integrin alpha-IIb that is encoded in the genome of mouse. UniProtKB:Q9QUM0 hp.json mITGA2B|CD41 (mouse)|Itga2b|GPIIb (mouse)|platelet membrane glycoprotein IIb (mouse)|GPalpha IIb (mouse) http://purl.obolibrary.org/obo/PR_Q9QUM0 CHEBI:35366 biolink:ChemicalSubstance fatty acid Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. By extension, the term is sometimes used to embrace all acyclic aliphatic carboxylic acids. KEGG:C00162|PMID:14328676|PMID:14300208|Wikipedia:Fatty_acid|PMID:14287444 hp.json Fatty acid|acides gras|fatty acids|acide gras|acido graso|fatty acids|Fettsaeure|acidos grasos|Fettsaeuren http://purl.obolibrary.org/obo/CHEBI_35366 3_STAR UBERON:0014706 biolink:AnatomicalEntity primitive renal collecting duct system EHDAA2:0001147|EMAPA:17646 hp.json metanephros primitive collecting ducts|primitive collecting duct http://purl.obolibrary.org/obo/UBERON_0014706 PATO:0000394 biolink:NamedThing mild intensity An intensity which is less than moderate in type or degree or effect or force. hp.json http://purl.obolibrary.org/obo/PATO_0000394 value_slim|mpath_slim|hpo_slim PATO:0000396 biolink:NamedThing severe intensity An intensity which is extremely bad or unpleasant in type or degree or effect or force. hp.json http://purl.obolibrary.org/obo/PATO_0000396 value_slim|mpath_slim|hpo_slim UBERON:0014702 biolink:AnatomicalEntity frontonasal process epithelium An epithelium that is part of a frontonasal prominence. EMAPA:32918|EHDAA2:0004108 hp.json http://purl.obolibrary.org/obo/UBERON_0014702 PATO:0000395 biolink:NamedThing moderate intensity An intensity which is less than extreme in type or degree or effect or force. hp.json http://purl.obolibrary.org/obo/PATO_0000395 value_slim|mpath_slim|hpo_slim UBERON:0014703 biolink:AnatomicalEntity anal membrane ectodermal component A unilaminar epithelium that develops_from a ectoderm and is part of a anal region. EHDAA2:0004019|EMAPA:25040 hp.json http://purl.obolibrary.org/obo/UBERON_0014703 UBERON:0014704 biolink:AnatomicalEntity pleuroperitoneal canal lumen An anatomical space that is enclosed by a pleuroperitoneal canal. EMAPA:25034|EHDAA2:0004736 hp.json pleuro-peritoneal canal cavity http://purl.obolibrary.org/obo/UBERON_0014704 UBERON:0014705 biolink:AnatomicalEntity median lingual swelling epithelium An epithelium that is part of a median lingual swelling. EHDAA2:0001085|EMAPA:17188 hp.json tuberculum impar epitheilium http://purl.obolibrary.org/obo/UBERON_0014705 GO:0048935 biolink:BiologicalProcess peripheral nervous system neuron development The process whose specific outcome is the progression of a neuron whose cell body is located in the peripheral nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron. hp.json http://purl.obolibrary.org/obo/GO_0048935 UBERON:0014780 biolink:AnatomicalEntity palatine aponeurosis Attached to the posterior border of the hard palate is a thin, firm fibrous lamella called the palatine aponeurosis, which supports the muscles and gives strength to the soft palate. It is thicker above than below, where it becomes very thin and difficult to define. Laterally it is continuous with the pharyngeal aponeurosis. It serves as the insertion for the Tensor veli palatini and Levator veli palatini, and the origin for the Musculus uvulae, Palatopharyngeus, and Palatoglossus. It provides support for the soft palate. FMA:49429 hp.json aponeurosis palatina|aponeurosis of tensor veli palatini http://purl.obolibrary.org/obo/UBERON_0014780 CHEBI:23354 biolink:ChemicalSubstance coenzyme A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons. hp.json coenzyme|coenzymes http://purl.obolibrary.org/obo/CHEBI_23354 3_STAR CHEBI:23357 biolink:ChemicalSubstance cofactor An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group). Wikipedia:Cofactor_(biochemistry) hp.json cofactors|cofactor http://purl.obolibrary.org/obo/CHEBI_23357 3_STAR HP:0031463 biolink:PhenotypicFeature Esophageal squamous papilloma A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia. hp.json http://purl.obolibrary.org/obo/HP_0031463 PATO:0000323 biolink:NamedThing white An achromatic color of maximum brightness; the color of objects that reflect nearly all light of all visible wavelengths. hp.json whitish http://purl.obolibrary.org/obo/PATO_0000323 value_slim|mpath_slim HP:0031464 biolink:PhenotypicFeature Genital blistering The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. hp.json http://purl.obolibrary.org/obo/HP_0031464 PATO:0000322 biolink:NamedThing red A color hue with high wavelength of the long-wave end of the visible spectrum, evoked in the human observer by radiant energy with wavelengths of approximately 630 to 750 nanometers. hp.json http://purl.obolibrary.org/obo/PATO_0000322 value_slim|mpath_slim HP:0031465 biolink:PhenotypicFeature Abnormal vasa vasorum morphology A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products. hp.json http://purl.obolibrary.org/obo/HP_0031465 HP:0031466 biolink:PhenotypicFeature Impairment in personality functioning A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. hp.json http://purl.obolibrary.org/obo/HP_0031466 UBERON:0012126 biolink:AnatomicalEntity fibulare One of two elements that constitute the basal row of tarsals. The fibulare constitutes the preaxial element[AAO]. AAO:0000913 hp.json astragalus http://purl.obolibrary.org/obo/UBERON_0012126 UBERON:0014783 biolink:AnatomicalEntity cloacal muscle Any muscle organ that is part of a cloaca. hp.json http://purl.obolibrary.org/obo/UBERON_0014783 HP:0031460 biolink:PhenotypicFeature Benign muscle neoplasm A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]. hp.json http://purl.obolibrary.org/obo/HP_0031460 HP:0031461 biolink:PhenotypicFeature Intramuscular Myxoma A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy. hp.json IM Myxoma http://purl.obolibrary.org/obo/HP_0031461 UBERON:0012125 biolink:AnatomicalEntity dermatological-muscosal system Anatomical system that consists of the integumental system plus all mucosae and submucosae. hp.json dermatological system http://purl.obolibrary.org/obo/UBERON_0012125 HP:0031462 biolink:PhenotypicFeature Musculotendinous retraction Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue. hp.json http://purl.obolibrary.org/obo/HP_0031462 PATO:0000328 biolink:NamedThing low saturation A color saturation which is of low purity. hp.json dull|pale http://purl.obolibrary.org/obo/PATO_0000328 value_slim HP:0031467 biolink:PhenotypicFeature Negative affectivity A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. hp.json http://purl.obolibrary.org/obo/HP_0031467 HP:0031468 biolink:PhenotypicFeature Separation insecurity Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy. hp.json http://purl.obolibrary.org/obo/HP_0031468 HP:0031469 biolink:PhenotypicFeature Low self esteem Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself. hp.json http://purl.obolibrary.org/obo/HP_0031469 PATO:0000320 biolink:NamedThing green A color hue with medium-low wavelength of that portion of the visible spectrum lying between yellow and blue, evoked in the human observer by radiant energy with wavelengths of approximately 490 to 570 nanometers. hp.json http://purl.obolibrary.org/obo/PATO_0000320 value_slim|mpath_slim CHEBI:23366 biolink:ChemicalSubstance compatible osmolytes hp.json http://purl.obolibrary.org/obo/CHEBI_23366 1_STAR CHEBI:23367 biolink:ChemicalSubstance molecular entity Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity. hp.json molekulare Entitaet|entite moleculaire|entidad molecular|entidades moleculares|molecular entity|molecular entities http://purl.obolibrary.org/obo/CHEBI_23367 3_STAR UBERON:0014770 biolink:AnatomicalEntity palpebral artery An artery that supplies blood to an eyelid. hp.json http://purl.obolibrary.org/obo/UBERON_0014770 UBERON:0000127 biolink:AnatomicalEntity facial nucleus The group of motor neurons residing in the pons that innervate the muscles of facial expression. EHDAA2:0004638|NCIT:C12898|BAMS:7N|MA:0001014|BM:Pons-VII|DHBA:12420|EV:0100267|MESH:D065828|EMAPA:35338|UMLS:C0228740|VHOG:0001412|BAMS:7|FMA:54572|BAMS:VII hp.json facial VII motor nucleus|facial VII nucleus|facial nerve nucleus|nucleus of facial nerve http://purl.obolibrary.org/obo/UBERON_0000127 pheno_slim CHEBI:50967 biolink:ChemicalSubstance non-covalently-bound molecular entity Systems consisting of two or more molecular entities held together by non-covalent interactions. hp.json non-covalently-bound molecular entities http://purl.obolibrary.org/obo/CHEBI_50967 3_STAR UBERON:0000128 biolink:AnatomicalEntity olivary body Prominent oval structure in the medulla oblongata, present in pairs, the lower portion of the brainstem. They contain the olivary nuclei. BTO:0002299 hp.json olivary nucleus|olive body|oliva|olive http://purl.obolibrary.org/obo/UBERON_0000128 pheno_slim UBERON:0014775 biolink:AnatomicalEntity prosomere A neuromere that is part of the presumptive forebrain. FMA:61996 hp.json future prosencephalon|segment of forebrain|forebrain segment|forebrain neuromere http://purl.obolibrary.org/obo/UBERON_0014775 HP:0031474 biolink:PhenotypicFeature Pulmonary chondroma A benign cartilaginous tumors of the lung. hp.json http://purl.obolibrary.org/obo/HP_0031474 UBERON:0012111 biolink:AnatomicalEntity diastema A space or gap between two consecutive teeth. FMA:77271|MESH:D003970 hp.json diastemata|interdental space http://purl.obolibrary.org/obo/UBERON_0012111 UBERON:0014776 biolink:AnatomicalEntity midbrain neuromere A neuromere that is part of the presumptive midbrain. FMA:61997|EHDAA2:0004352 hp.json neuromere of mesomere group|mesomere group|future mesencephalon|midbrain segment|mesomere of nervous system|mesomere|segment of midbrain http://purl.obolibrary.org/obo/UBERON_0014776 HP:0031475 biolink:PhenotypicFeature Status epilepticus without prominent motor symptoms There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. hp.json Nonconvulsive status epilepticus http://purl.obolibrary.org/obo/HP_0031475 HP:0031476 biolink:PhenotypicFeature Abnormal buccal mucosa cell morphology Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells). hp.json http://purl.obolibrary.org/obo/HP_0031476 UBERON:0014777 biolink:AnatomicalEntity spinal neuromere A neuromere that is part of the presumptive spinal cord. ZFA:0001332|TAO:0001332 hp.json spinal neuromeres|spinal cord segment|spinal cord metameric segment http://purl.obolibrary.org/obo/UBERON_0014777 HP:0031477 biolink:PhenotypicFeature obsolete Abnormal mitral valve morphology hp.json http://purl.obolibrary.org/obo/HP_0031477 OBO:MAXO_0001181 biolink:NamedThing serum alkaline phosphatase measurement The determination of the amount of alkaline phosphatase present in blood serum. hp.json blood serum alkaline phosphatase test|serum Alk phos measurement|alkaline phosphatase blood serum assessment http://purl.obolibrary.org/obo/MAXO_0001181 HP:0031472 biolink:PhenotypicFeature Risk taking Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger. hp.json http://purl.obolibrary.org/obo/HP_0031472 HP:0031473 biolink:PhenotypicFeature Hostility Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. hp.json http://purl.obolibrary.org/obo/HP_0031473 CHEBI:35344 biolink:ChemicalSubstance 21-hydroxy steroid KEGG:C02506 hp.json 21-hydroxysteroids|21-hydroxy steroids|21-Hydroxysteroid http://purl.obolibrary.org/obo/CHEBI_35344 3_STAR CHEBI:35343 biolink:ChemicalSubstance 17beta-hydroxy steroid A 17-hydroxy steroid in which the hydroxy group at position 17 has a beta-configuration. MetaCyc:17-beta-Hydroxysteroids|KEGG:C03051 hp.json 17beta-hydroxy steroids|17beta-hydroxysteroid|a 17beta-hydroxy steroid|17beta-hydroxysteroids http://purl.obolibrary.org/obo/CHEBI_35343 3_STAR CHEBI:35346 biolink:ChemicalSubstance 11beta-hydroxy steroid Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration. KEGG:C01058 hp.json 11beta-Hydroxysteroid|11beta-hydroxysteroids|an 11beta-hydroxysteroid|11beta-hydroxy steroids http://purl.obolibrary.org/obo/CHEBI_35346 3_STAR CHEBI:35348 biolink:ChemicalSubstance 3beta-sterol A sterol in which the hydroxy group at position 3 has beta- configuration. hp.json 3beta-sterols|3beta-hydroxysteroids http://purl.obolibrary.org/obo/CHEBI_35348 3_STAR HP:0031478 biolink:PhenotypicFeature Abnormal mitral valve annulus morphology Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. hp.json http://purl.obolibrary.org/obo/HP_0031478 PATO:0000330 biolink:NamedThing irregular spatial pattern A spatial pattern inhering in a bearer by virtue of the bearer's magnitude of or the relationships between its repeated parts lack consistency. hp.json http://purl.obolibrary.org/obo/PATO_0000330 mpath_slim|cell_quality|value_slim UBERON:0014768 biolink:AnatomicalEntity superior palpebral vein A blood vessel that drains from from an upper eyelid. FMA:50907 hp.json venae palpebrales superiores http://purl.obolibrary.org/obo/UBERON_0014768 human_reference_atlas HP:0031479 biolink:PhenotypicFeature Dilatation of the mitral annulus An increase in the diameter of the ring (annulus) of the mitral valve. hp.json http://purl.obolibrary.org/obo/HP_0031479 UBERON:0014769 biolink:AnatomicalEntity palpebral vein A blood vessel that drains from from an eyelid. FMA:51997 hp.json palpebral veins|venae palpebrales http://purl.obolibrary.org/obo/UBERON_0014769 UBERON:0002792 biolink:AnatomicalEntity lumbar spinal cord FMA:71168|BIRNLEX:1704|UMLS:C0581620|MA:0003083|UMLS:C1278838|UMLS:C0581621|NCIT:C12895 hp.json segmenta lumbalia medullae spinalis [1-5]|pars lumbalis medullae spinalis|lumbar spinal cord|spinal cord lumbar segment|lumbar segment of spinal cord|lumbar segments of spinal cord [1-5] http://purl.obolibrary.org/obo/UBERON_0002792 uberon_slim CHEBI:35342 biolink:ChemicalSubstance 17alpha-hydroxy steroid The alpha-stereoisomer of 17-hydroxy steroid. KEGG:C03336 hp.json 17alpha-hydroxy steroids|17-alpha-Hydroxysteroid http://purl.obolibrary.org/obo/CHEBI_35342 3_STAR CHEBI:35341 biolink:ChemicalSubstance steroid Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene which is a triterpene. KEGG:C00377|MetaCyc:Steroids hp.json steroids|Steroid|a steroid http://purl.obolibrary.org/obo/CHEBI_35341 3_STAR CHEBI:23333 biolink:ChemicalSubstance cob(III)alamins hp.json http://purl.obolibrary.org/obo/CHEBI_23333 3_STAR CHEBI:23334 biolink:ChemicalSubstance cobalamins hp.json http://purl.obolibrary.org/obo/CHEBI_23334 3_STAR HP:0031480 biolink:PhenotypicFeature Abnormal mitral valve leaflet morphology Any structural anomaly of the leaflets (also known as cusps) of the mitral valve. hp.json http://purl.obolibrary.org/obo/HP_0031480 UBERON:0000117 biolink:AnatomicalEntity respiratory tube A tube in the respiratory system. Examples: bronchus, bronchiole, trachea. EMAPA:37946|FMA:12224 hp.json segment of tracheobronchial tree|airway|segment of tracheobronchial tree|tracheobronchial tree segment|respiratory conducting tube http://purl.obolibrary.org/obo/UBERON_0000117 UBERON:0000118 biolink:AnatomicalEntity lung bud Structure derived from foregut that becomes a lung[GO]. NCIT:C34282|NCIT:C34260|SCTID:361427007|UMLS:C1514897|Wikipedia:Respiratory_bud|BTO:0001643|EHDAA2:0004089|UMLS:C1514420 hp.json respiratory diverticulum|gemma pulmonalis|primary lung bud|gemma pulmonalis|gemma respiratoria|gemma respiratoria|respiratory diverticulum|lung bud http://purl.obolibrary.org/obo/UBERON_0000118 pheno_slim UBERON:0000119 biolink:AnatomicalEntity cell layer Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. NCIT:C66831 hp.json sheath of cells|cell sheath|layer|layer of cells http://purl.obolibrary.org/obo/UBERON_0000119 upper_level HP:0031485 biolink:PhenotypicFeature Subperiosteal bone formation The formation of new bone along the cortex and underneath the periosteum of a bone. hp.json Periosteal reaction http://purl.obolibrary.org/obo/HP_0031485 UBERON:0014765 biolink:AnatomicalEntity crus of diaphragm The domain of the diaphragm that is located dorsally and attaches to the vertebrae and surrounds the esophagus and aorta. EHDAA2:0000597|VHOG:0001546|EMAPA:17703 hp.json crus of the diaphragm|crural diaphragm|crura of the diaphragm|diaphragmatic crura|diaphragm crura http://purl.obolibrary.org/obo/UBERON_0014765 HP:0031486 biolink:PhenotypicFeature Vascular malformation of the lip An anomaly of blood vessels located in the lip. hp.json http://purl.obolibrary.org/obo/HP_0031486 UBERON:0014766 biolink:AnatomicalEntity right crus of diaphragm A crus of diaphragm that is in_the_right_side_of a diaphragm. FMA:58286 hp.json external sphincter of esophagus|crus dextrum diaphragmatis|right crus of lumbar part of diaphragm|crus dextrum (Diaphragma)|right crus of diaphragm http://purl.obolibrary.org/obo/UBERON_0014766 HP:0031487 biolink:PhenotypicFeature Capillary malformation of the lip A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. hp.json http://purl.obolibrary.org/obo/HP_0031487 UBERON:0014767 biolink:AnatomicalEntity left crus of diaphragm A crus of diaphragm that is in_the_left_side_of a diaphragm. FMA:58287 hp.json left crus of lumbar part of diaphragm|left crus of diaphragm|crus sinistrum (Diaphragma)|crus sinistrum diaphragmatis http://purl.obolibrary.org/obo/UBERON_0014767 HP:0031488 biolink:PhenotypicFeature Arteriovenous malformation of the lip A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus. hp.json Atypical connection between arteries and veins http://purl.obolibrary.org/obo/HP_0031488 HP:0031481 biolink:PhenotypicFeature Abnormal mitral valve physiology Any functional anomaly of the mitral valve. hp.json http://purl.obolibrary.org/obo/HP_0031481 HP:0031482 biolink:PhenotypicFeature Abnormal regional left ventricular contraction A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle. hp.json http://purl.obolibrary.org/obo/HP_0031482 UBERON:0014762 biolink:AnatomicalEntity fused metapodial bones 2-4 An element formed from the fusion of metapodium bones 2, 3 and 4 (i.e. either metatarsals 2-4 or metacarpals 3-4). hp.json fused central metapodials|metapodial 2+3+4|fused metapodials 2-4 http://purl.obolibrary.org/obo/UBERON_0014762 HP:0031483 biolink:PhenotypicFeature Reduced contraction of the left ventricular apex Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography. hp.json http://purl.obolibrary.org/obo/HP_0031483 UBERON:0012102 biolink:AnatomicalEntity buccal salivary gland A salivary gland that is part of a cheek. NCIT:C32237|FMA:59793 hp.json http://purl.obolibrary.org/obo/UBERON_0012102 UBERON:0014763 biolink:AnatomicalEntity fused metatarsal bones 2-4 An element formed from the fusion of metapodium bones 2, 3 and 4 in the pedal autopod. hp.json fused metatarsals 2-4|cannon bone|fused central metatarsals|metatarsal 2+3+4 http://purl.obolibrary.org/obo/UBERON_0014763 HP:0031484 biolink:PhenotypicFeature Cold-induced hemolysis A form of hemolytic anemia that can be triggered by cold temperatures. hp.json http://purl.obolibrary.org/obo/HP_0031484 PR:000011649 biolink:Protein 5-oxoprolinase A protein that is a translation product of the human OPLAH gene or a 1:1 ortholog thereof. hp.json 5-OPase|OPLAH|5-oxo-L-prolinase|pyroglutamase http://purl.obolibrary.org/obo/PR_000011649 CHEBI:35313 biolink:ChemicalSubstance hexoside hp.json hexoside|hexosides http://purl.obolibrary.org/obo/CHEBI_35313 3_STAR HP:0031489 biolink:PhenotypicFeature Venous malformation of the lip A vascular malformation located in the lip that is related to abnormal vascular morphogenesis. hp.json http://purl.obolibrary.org/obo/HP_0031489 GO:0000902 biolink:BiologicalProcess cell morphogenesis The developmental process in which the size or shape of a cell is generated and organized. hp.json cellular morphogenesis http://purl.obolibrary.org/obo/GO_0000902 goslim_yeast|goslim_drosophila|goslim_chembl GO:0000904 biolink:BiologicalProcess cell morphogenesis involved in differentiation The change in form (cell shape and size) that occurs when relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. hp.json http://purl.obolibrary.org/obo/GO_0000904 UBERON:0000125 biolink:AnatomicalEntity neural nucleus A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO). NLX:28443|FMA:83686|AEO:0000136|NCIT:C13197|Wikipedia:Nucleus_(neuroanatomy) hp.json nervous system nucleus|neuronal nucleus|nucleus of neuraxis|nucleus|neuraxis nucleus|nucleus of CNS http://purl.obolibrary.org/obo/UBERON_0000125 cumbo UBERON:0000126 biolink:AnatomicalEntity cranial nerve nucleus Nucleus that receives projections from or contains neurons that send projections through one of the cranial nerves. NLX:28532|FMA:54501|SCTID:280160003|Wikipedia:Cranial_nerve_nucleus|EMAPA:37066 hp.json nucleus nervi cranialis|nucleus nervi cranialis|nucleus of cranial nerve|cranial neural nucleus http://purl.obolibrary.org/obo/UBERON_0000126 UBERON:0002787 biolink:AnatomicalEntity decussation of trochlear nerve The crossing of the two trochlear nerves at their exit through the velum medullare anterius. BIRNLEX:1690|BAMS:4x|FMA:72488|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=595|UMLS:C0175448|BAMS:IVd|MBA:384|DHBA:12338 hp.json decussation of trochlear nerve (IV)|decussatio fibrarum nervorum trochlearium|trochlear neural decussation|decussation of trochlear nerve fibers|decussation of the trochlear nerve|trochlear decussation|trochlear nerve decussation|decussatio nervorum trochlearium|decussatio trochlearis http://purl.obolibrary.org/obo/UBERON_0002787 UBERON:0000122 biolink:AnatomicalEntity neuron projection bundle A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. FBbt:00005099|NLX:147821|CARO:0001001 hp.json funiculus|neural fiber bundle|nerve fiber bundle http://purl.obolibrary.org/obo/UBERON_0000122 UBERON:0000109 biolink:AnatomicalEntity gastrula stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. XAO:1000005|EFO:0001296|HsapDv:0000010|FBdv:00005317|ZFS:0000047|BILS:0000109|OGES:000019|MmusDv:0000013|OGES:000004|WBls:0000010|BilaDO:0000008 hp.json trilaminar stage|trilaminar germ stage|trilaminar blastoderm stage|blastocystis trilaminaris stage|trilaminar stage|trilaminar blastocyst stage|trilaminar blastoderm stage|trilaminar disk stage|trilaminar blastocyst stage|trilaminar germ stage|trilaminar disk stage|blastocystis trilaminaris stage http://purl.obolibrary.org/obo/UBERON_0000109 efo_slim HP:0031490 biolink:PhenotypicFeature Hemangioma of the lip A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. hp.json http://purl.obolibrary.org/obo/HP_0031490 HP:0031491 biolink:PhenotypicFeature Continuous spike and waves during slow sleep Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. hp.json CSWS|Electrical status epilepticus during slow-wave sleep http://purl.obolibrary.org/obo/HP_0031491 UBERON:0000105 biolink:AnatomicalEntity life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. HsapDv:0000000|ncithesaurus:Developmental_Stage|ZFS:0000000|FMA:24120|XAO:1000000|ZFS:0100000|PdumDv:0000090|WBls:0000002|BILS:0000105|OlatDv:0000010|EFO:0000399|MESH:D008018|MmusDv:0000000|FBdv:00007012 hp.json stage|developmental stage http://purl.obolibrary.org/obo/UBERON_0000105 upper_level|efo_slim UBERON:0000106 biolink:AnatomicalEntity zygote stage A stage at which the organism is a single cell produced by means of sexual reproduction. BilaDO:0000005|EHDAA:27|XAO:1000001|ZFS:0000001|NCIT:C12601|BILS:0000106|Wikipedia:Zygote|FBdv:00005288|VHOG:0000745|EFO:0001322|PdumDv:0000100 hp.json fertilized egg stage|fertilized egg stage|zygotum|zygote|one-cell stage|1-cell stage|one cell stage|zygotum http://purl.obolibrary.org/obo/UBERON_0000106 efo_slim UBERON:0000107 biolink:AnatomicalEntity cleavage stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. BilaDO:0000006|OGES:000020|Wikipedia:Cleavage_(embryo)|XAO:1000004|ZFS:0000046|EFO:0001290|BILS:0000107|FBdv:00000054|MmusDv:0000004|MESH:A16.254.270|OGES:000015|MESH:D002970|PdumDv:0000200 hp.json http://purl.obolibrary.org/obo/UBERON_0000107 efo_slim UBERON:0000108 biolink:AnatomicalEntity blastula stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. OGES:000021|XAO:1000003|EFO:0001282|ZFS:0000045|MmusDv:0000007|WBls:0000005|BILS:0000108|OGES:000016|OpenCyc:Mx4rEetFnKP2EdqAAAACs4vPlg|HsapDv:0000006|OGES:000003|Wikipedia:Blastula|BilaDO:0000007 hp.json http://purl.obolibrary.org/obo/UBERON_0000108 efo_slim HP:0031496 biolink:PhenotypicFeature Mucinous cystic neoplasm of the pancreas Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma. hp.json http://purl.obolibrary.org/obo/HP_0031496 HP:0031497 biolink:PhenotypicFeature Mucinous colorectal carcinoma A subtype of colorectal carcinoma with mucin lakes. hp.json http://purl.obolibrary.org/obo/HP_0031497 HP:0031498 biolink:PhenotypicFeature Mucinous gastric carcinoma A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor. hp.json http://purl.obolibrary.org/obo/HP_0031498 HP:0031499 biolink:PhenotypicFeature Appendiceal mucinous neoplasm An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles. hp.json http://purl.obolibrary.org/obo/HP_0031499 HP:0031492 biolink:PhenotypicFeature Epithelial neoplasm A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]. hp.json http://purl.obolibrary.org/obo/HP_0031492 CHEBI:23341 biolink:ChemicalSubstance cobamides hp.json http://purl.obolibrary.org/obo/CHEBI_23341 1_STAR HP:0031493 biolink:PhenotypicFeature Glandular cell neoplasm A tumor that arises from a gland cell. hp.json http://purl.obolibrary.org/obo/HP_0031493 HP:0031494 biolink:PhenotypicFeature Ovarian mucinous tumor Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma. hp.json Ovarian mucinous tumour|Mucinous neoplasm of the ovary http://purl.obolibrary.org/obo/HP_0031494 HP:0031495 biolink:PhenotypicFeature Mucinous neoplasm hp.json http://purl.obolibrary.org/obo/HP_0031495 UBERON:0000112 biolink:AnatomicalEntity sexually immature stage OGES:000009|XAO:1000010|ZFS:0000051|BILS:0000112|EFO:0001300|XtroDO:0000083|MmusDv:0000043|BTO:0002168|EV:0300051 hp.json immature stage|subadult stage|juvenile stage|subadult stage http://purl.obolibrary.org/obo/UBERON_0000112 efo_slim UBERON:0000113 biolink:AnatomicalEntity post-juvenile adult stage The stage of being a sexually mature adult animal. ZFS:0000044|EV:0300070|OGES:000027|MIAA:0000403|OGES:000026|XAO:1000093|BILS:0000113|MmusDv:0000110|EV:0300064 hp.json adult stage http://purl.obolibrary.org/obo/UBERON_0000113 UBERON:0000114 biolink:AnatomicalEntity lung connective tissue The connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin. FMA:27533|MA:0001782|EMAPA:35521|SCTID:201609008 hp.json lung interstitial tissue|pulmonary interstitium|pulmonary interstitial tissue|pulmonary connective tissue|connective tissue of lung|lung interstitium http://purl.obolibrary.org/obo/UBERON_0000114 pheno_slim UBERON:0000115 biolink:AnatomicalEntity lung epithelium The epithelial layer of the lung. MA:0001783|BTO:0001653|EMAPA:32860 hp.json lung epithelial tissue|pulmonary epithelium|epithelial tissue of lung|epithelium of lung http://purl.obolibrary.org/obo/UBERON_0000115 pheno_slim GO:0061938 biolink:BiologicalProcess protein localization to somatodendritic compartment A process in which a protein is transported to or maintained in a location within the somatodendritic compartment. hp.json somatodendritic protein localization http://purl.obolibrary.org/obo/GO_0061938 GO:1902809 biolink:BiologicalProcess regulation of skeletal muscle fiber differentiation Any process that modulates the frequency, rate or extent of skeletal muscle fiber differentiation. hp.json http://purl.obolibrary.org/obo/GO_1902809 UBERON:0000110 biolink:AnatomicalEntity neurula stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. MmusDv:0000017|BilaDO:0000009|BILS:0000110|XAO:1000006|HsapDv:0000012 hp.json http://purl.obolibrary.org/obo/UBERON_0000110 UBERON:0000111 biolink:AnatomicalEntity organogenesis stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. MmusDv:0000018|BilaDO:0000010|OGES:000005|Wikipedia:Organogenesis|HsapDv:0000015|BILS:0000111|OGES:000032 hp.json segmentation stage http://purl.obolibrary.org/obo/UBERON_0000111 OBO:MAXO_0001154 biolink:NamedThing cervical examination A systemic evaluation of the uterine cervix using visual inspection, palpation, and percussion. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. hp.json examination of uterine cervix|physical examination of uterine cervix|examination of the cervix|uterine cervix exam http://purl.obolibrary.org/obo/MAXO_0001154 OBO:MAXO_0001153 biolink:NamedThing uterus examination A systemic evaluation of the uterus using visual inspection, palpation, and percussion. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. hp.json physical examination of uterus|uterus exam|examination of uterus http://purl.obolibrary.org/obo/MAXO_0001153 OBO:MAXO_0001152 biolink:NamedThing chest examination A systemic evaluation of the chest using visual inspection, palpation, and percussion. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. hp.json examination of chest|physical examination of chest|chest exam http://purl.obolibrary.org/obo/MAXO_0001152 OBO:MAXO_0001151 biolink:NamedThing neck examination A systemic evaluation of the neck using visual inspection, palpation, and percussion. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. hp.json examination of neck|neck exam|physical examination of neck http://purl.obolibrary.org/obo/MAXO_0001151 OBO:MAXO_0001156 biolink:NamedThing whole body examination A systemic evaluation of the multicellular organism using visual inspection, palpation, and percussion. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. hp.json examination of multicellular organism|examination of whole body|whole body exam|multicellular organism exam|physical examination of multicellular organism http://purl.obolibrary.org/obo/MAXO_0001156 OBO:MAXO_0001155 biolink:NamedThing eye examination A systemic evaluation of the eye using visual inspection, palpation, and percussion. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. hp.json examination of eye|physical examination of eye|eye exam http://purl.obolibrary.org/obo/MAXO_0001155 HP:0031420 biolink:PhenotypicFeature Small yellow foveal lesion with surrounding gray zone A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity. hp.json Small yellow foveal lesion with surrounding grey zone|Laser pointer-induced retinopathy|Photic retinopathy|Laser pointer-induced maculopathy|Light induced retinopathy|Solar retinopathy|Solar retinitis http://purl.obolibrary.org/obo/HP_0031420 HP:0031421 biolink:PhenotypicFeature Small superior frontal cortex Reduced size of the superior frontal portion of the cerebral cortex. hp.json http://purl.obolibrary.org/obo/HP_0031421 HP:0031422 biolink:PhenotypicFeature Abnormal cerebellar cortex morphology Any structural anomaly of the cortex of the cerebellum. hp.json Abnormal morphology of the cerebellar cortex http://purl.obolibrary.org/obo/HP_0031422 OBO:MAXO_0001150 biolink:NamedThing head examination A systemic evaluation of the head using visual inspection, palpation, and percussion. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. hp.json examination of head|physical examination of head|head exam http://purl.obolibrary.org/obo/MAXO_0001150 GO:0034330 biolink:BiologicalProcess cell junction organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell junction. A cell junction is a specialized region of connection between two cells or between a cell and the extracellular matrix. hp.json cell junction biogenesis|cell junction organisation|cell junction assembly and maintenance http://purl.obolibrary.org/obo/GO_0034330 goslim_chembl|goslim_generic HP:0031427 biolink:PhenotypicFeature Abnormal circulating osteocalcin level A deviation from the normal concentration of osteocalcin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0031427 HP:0031428 biolink:PhenotypicFeature Increased circulating osteocalcin level An elevated level of osteocalcin in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031428 HP:0031429 biolink:PhenotypicFeature Decreased circulating osteocalcin level A reduced level of osteocalcin in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031429 HP:0031423 biolink:PhenotypicFeature Small cerebellar cortex Reduced size of the cerebellar cortex. hp.json http://purl.obolibrary.org/obo/HP_0031423 HP:0006456 biolink:PhenotypicFeature Irregular proximal tibial epiphyses Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. UMLS:C4025045 hp.json Irregular innermost shankbone end part|Irregular innermost shinbone end part http://purl.obolibrary.org/obo/HP_0006456 HP:0031424 biolink:PhenotypicFeature Abnormal circulating beta-C-terminal telopeptide level A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover. hp.json Abnormal circulating beta-CrossLaps level|Abnormal circulating beta-CTx level http://purl.obolibrary.org/obo/HP_0031424 HP:0031425 biolink:PhenotypicFeature Increased circulating beta-C-terminal telopeptide level A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. hp.json Increased circulating beta-CrossLaps level|Increased circulating beta-CTx level http://purl.obolibrary.org/obo/HP_0031425 HP:0006459 biolink:PhenotypicFeature Dorsal subluxation of ulna Partial dislocation of the ulna in the dorsal direction. UMLS:C1851988 hp.json http://purl.obolibrary.org/obo/HP_0006459 HP:0031426 biolink:PhenotypicFeature Decreased circulating beta-C-terminal telopeptide level A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. hp.json Decreased circulating beta-CrossLaps level|Decreased circulating beta-CTx level http://purl.obolibrary.org/obo/HP_0031426 HP:0006453 biolink:PhenotypicFeature Lateral displacement of the femoral head A developmental anomaly with lateral displacement of the femoral head. UMLS:C1855758 hp.json Laterally displaced femoral heads http://purl.obolibrary.org/obo/HP_0006453 HP:0006454 biolink:PhenotypicFeature Delayed patellar ossification Formation of bone in the patella later than normal. UMLS:C4280446|UMLS:C4021597 hp.json Delayed patellae ossification|Delayed bone maturation of the knee cap http://purl.obolibrary.org/obo/HP_0006454 OBO:MAXO_0001159 biolink:NamedThing endocervical swab collection Collection biological material from within the endocervix with a cotton swab. hp.json swab collection of endocervix|endocervical swab http://purl.obolibrary.org/obo/MAXO_0001159 HP:0006450 biolink:PhenotypicFeature Multicentric ossification of proximal femoral epiphyses UMLS:C1857193 hp.json http://purl.obolibrary.org/obo/HP_0006450 HP:0031430 biolink:PhenotypicFeature Oligoclonal T cell expansion The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones. hp.json http://purl.obolibrary.org/obo/HP_0031430 HP:0031431 biolink:PhenotypicFeature Persistent repetition of words Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others. hp.json http://purl.obolibrary.org/obo/HP_0031431 GO:0034329 biolink:BiologicalProcess cell junction assembly A cellular process that results in the aggregation, arrangement and bonding together of a set of components to form a cell junction. hp.json http://purl.obolibrary.org/obo/GO_0034329 HP:0031432 biolink:PhenotypicFeature Persistent repetition of actions Repeated and inappropriate mechanical repetition of actions. hp.json http://purl.obolibrary.org/obo/HP_0031432 HP:0031433 biolink:PhenotypicFeature Alexithymia A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others. hp.json Unaware of others' emotions http://purl.obolibrary.org/obo/HP_0031433 HP:0031438 biolink:PhenotypicFeature Abnormal sex hormone-binding globulin level A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031438 HP:0031439 biolink:PhenotypicFeature Abnormal angiostatin level A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels. hp.json http://purl.obolibrary.org/obo/HP_0031439 HP:0031434 biolink:PhenotypicFeature Abnormal speech prosody An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm. hp.json http://purl.obolibrary.org/obo/HP_0031434 HP:0006467 biolink:PhenotypicFeature Limited shoulder movement A limitation of the range of movement of the shoulder joint. UMLS:C1851313 hp.json Limited shoulder movement http://purl.obolibrary.org/obo/HP_0006467 hposlim_core HP:0031435 biolink:PhenotypicFeature Monotonic speech A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice. hp.json http://purl.obolibrary.org/obo/HP_0031435 HP:0031436 biolink:PhenotypicFeature Increased pitch variability of speech A speech pattern characterized by abnormally elevated variability of the pitch of the voice. hp.json http://purl.obolibrary.org/obo/HP_0031436 HP:0031437 biolink:PhenotypicFeature Pregnancy exposure Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants. hp.json Exposure during pregnancy http://purl.obolibrary.org/obo/HP_0031437 HP:0006463 biolink:PhenotypicFeature Rickets of the lower limbs UMLS:C1833323 hp.json http://purl.obolibrary.org/obo/HP_0006463 HP:0006465 biolink:PhenotypicFeature Periosteal thickening of long tubular bones Thickening of the periosteum of long bone. UMLS:C1834345 hp.json http://purl.obolibrary.org/obo/HP_0006465 CHEBI:62937 biolink:ChemicalSubstance icosanoid anion The carboxylic acid anion that is the conjugate base of an icosanoid, formed when the carboxy group is deprotonated. hp.json icosanoid anion|eicosanoid anions|icosanoid anions|eicosanoid anion http://purl.obolibrary.org/obo/CHEBI_62937 3_STAR HP:0006466 biolink:PhenotypicFeature Ankle flexion contracture A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. UMLS:C1837407 hp.json Ankle contractures|Contractures of the ankles|Ankle contracture http://purl.obolibrary.org/obo/HP_0006466 HP:0006460 biolink:PhenotypicFeature Increased laxity of ankles UMLS:C1850854 hp.json http://purl.obolibrary.org/obo/HP_0006460 HP:0006461 biolink:PhenotypicFeature Proximal femoral epiphysiolysis Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. MSH:D060048|UMLS:C0149887 hp.json Slipped capital femoral epiphyses|Slipped capital femoral epiphysis|Slipped end part of innermost thighbone http://purl.obolibrary.org/obo/HP_0006461 HP:0006462 biolink:PhenotypicFeature Generalized bone demineralization A generalized decrease in bone mineral density. UMLS:C1833326 hp.json Generalised bone demineralization http://purl.obolibrary.org/obo/HP_0006462 OBO:MAXO_0001174 biolink:NamedThing serum protein measurement The determination of the amount of protein present in blood serum. hp.json blood serum protein test|protein blood serum assessment http://purl.obolibrary.org/obo/MAXO_0001174 OBO:MAXO_0001173 biolink:NamedThing urine albumin measurement The determination of the amount of albumin (human) present in urine. hp.json urine albumin (human) test|albumin (human) urine assessment http://purl.obolibrary.org/obo/MAXO_0001173 HP:0031441 biolink:PhenotypicFeature Abnormal tricuspid valve annulus morphology Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. hp.json http://purl.obolibrary.org/obo/HP_0031441 HP:0031442 biolink:PhenotypicFeature Abnormal tricuspid chordae tendinae morphology Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve. hp.json http://purl.obolibrary.org/obo/HP_0031442 HP:0031443 biolink:PhenotypicFeature Abnormal tricuspid valve leaflet morphology Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve. hp.json http://purl.obolibrary.org/obo/HP_0031443 HP:0031444 biolink:PhenotypicFeature Dilatation of the tricuspid annulus An increase in the diameter of the ring (annulus) of the tricuspid valve. hp.json http://purl.obolibrary.org/obo/HP_0031444 OBO:MAXO_0001172 biolink:NamedThing insulin measurement The determination of the amount of insulin hormone present in the sample. hp.json insulin hormone test|insulin level assessment|insulin hormone assessment http://purl.obolibrary.org/obo/MAXO_0001172 OBO:MAXO_0001171 biolink:NamedThing testicular ultrasonography The use of ultrasound to produce images of structures in the testis. hp.json testis medical ultrasound|testis ultrasound imaging procedure|sonography of testis|testis diagnostic sonography|testis sonography|testis ultrasound procedure|ultrasonography of testis|testis ultrasound examination http://purl.obolibrary.org/obo/MAXO_0001171 OBO:MAXO_0001170 biolink:NamedThing venous ultrasonography The use of ultrasound to produce images of structures in the venous blood vessel. hp.json venous blood vessel ultrasound examination|venous blood vessel medical ultrasound|ultrasonography of venous blood vessel|venous blood vessel ultrasound imaging procedure|venous blood vessel diagnostic sonography|sonography of venous blood vessel|venous blood vessel sonography|venous sonography|venous blood vessel ultrasound procedure http://purl.obolibrary.org/obo/MAXO_0001170 HP:0031440 biolink:PhenotypicFeature obsolete Abnormal tricuspid valve morphology hp.json http://purl.obolibrary.org/obo/HP_0031440 HP:0031449 biolink:PhenotypicFeature Perineal hemangioma Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals. hp.json http://purl.obolibrary.org/obo/HP_0031449 HP:0006438 biolink:PhenotypicFeature Enlargement of the distal femoral epiphysis An abnormal enlargement of the distal epiphysis of the femur. UMLS:C1843105 hp.json Large distal femoral epiphyses|Enlargement of the outermost thighbone end part http://purl.obolibrary.org/obo/HP_0006438 CHEBI:62941 biolink:ChemicalSubstance glycosylceramide hp.json http://purl.obolibrary.org/obo/CHEBI_62941 HP:0006439 biolink:PhenotypicFeature Radioulnar dislocation UMLS:C2673394 hp.json Dislocated radioulnar joints http://purl.obolibrary.org/obo/HP_0006439 HP:0031445 biolink:PhenotypicFeature Oral mucosa nodule A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth. hp.json http://purl.obolibrary.org/obo/HP_0031445 HP:0006434 biolink:PhenotypicFeature Hypoplasia of proximal radius Proximal radial shortening owing to a congenital defect of development. UMLS:C1859477 hp.json Proximal radial shortening http://purl.obolibrary.org/obo/HP_0006434 HP:0031446 biolink:PhenotypicFeature Erosion of oral mucosa Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. hp.json http://purl.obolibrary.org/obo/HP_0031446 CHEBI:62943 biolink:ChemicalSubstance prostanoid anion An icosanoid anion that is the conjugate base of a prostanoid. hp.json prostanoid anions http://purl.obolibrary.org/obo/CHEBI_62943 3_STAR HP:0031447 biolink:PhenotypicFeature Penile freckling Multiple pigmented macules located on the skin of the penis. hp.json http://purl.obolibrary.org/obo/HP_0031447 HP:0006436 biolink:PhenotypicFeature obsolete Shortening of the tibia hp.json http://purl.obolibrary.org/obo/HP_0006436 CHEBI:62944 biolink:ChemicalSubstance sialic acid anion A carboxylic acid anion that is the conjugate base of a sialic acid, formed by deprotonation of the carboxy group. hp.json sialic acid anions http://purl.obolibrary.org/obo/CHEBI_62944 3_STAR HP:0006437 biolink:PhenotypicFeature Disproportionate prominence of the femoral medial condyle UMLS:C1834392 hp.json http://purl.obolibrary.org/obo/HP_0006437 HP:0031448 biolink:PhenotypicFeature Herpetiform vesicles Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles. hp.json http://purl.obolibrary.org/obo/HP_0031448 HP:0006431 biolink:PhenotypicFeature Proximal femoral metaphyseal abnormality An anomaly of the metaphysis of the proximal femur (close to the hip). UMLS:C4025047 hp.json Abnormal wide portion of innermost thighbone http://purl.obolibrary.org/obo/HP_0006431 HP:0006432 biolink:PhenotypicFeature Trapezoidal distal femoral condyles UMLS:C1843983 hp.json http://purl.obolibrary.org/obo/HP_0006432 HP:0006433 biolink:PhenotypicFeature Radial dysplasia Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. UMLS:C4025046 hp.json Radial longitudinal deficiency|Dysplastic radii http://purl.obolibrary.org/obo/HP_0006433 OBO:MAXO_0001165 biolink:NamedThing mucus specimen collection Collecting of mucus for clinical use. hp.json collection of mucus specimen|mucus collection http://purl.obolibrary.org/obo/MAXO_0001165 PATO:0000319 biolink:NamedThing cyan A color consisting of green and blue hue. hp.json http://purl.obolibrary.org/obo/PATO_0000319 value_slim OBO:MAXO_0001164 biolink:NamedThing pus specimen collection Collecting of pus for clinical use. hp.json collection of pus specimen|pus collection http://purl.obolibrary.org/obo/MAXO_0001164 OBO:MAXO_0001163 biolink:NamedThing amniotic fluid specimen collection Collecting of amniotic fluid for clinical use. hp.json collection of amniotic fluid specimen|amniotic fluid collection http://purl.obolibrary.org/obo/MAXO_0001163 OBO:MAXO_0001162 biolink:NamedThing semen specimen collection Collecting of semen for clinical use. hp.json collection of semen specimen|sperm collection|semen collection http://purl.obolibrary.org/obo/MAXO_0001162 OBO:MAXO_0001169 biolink:NamedThing cerebrospinal fluid specimen collection Collecting of cerebrospinal fluid for clinical use. hp.json cerebral spinal fluid collection|collection of cerebrospinal fluid specimen|cerebrospinal fluid collection http://purl.obolibrary.org/obo/MAXO_0001169 OBO:MAXO_0001168 biolink:NamedThing bodily fluid specimen collection Collecting of bodily fluid for clinical use. hp.json collection of bodily fluid specimen|bodily fluid collection http://purl.obolibrary.org/obo/MAXO_0001168 OBO:MAXO_0001167 biolink:NamedThing nasal mucus specimen collection Collecting of nasal mucus for clinical use. hp.json collection of nasal mucus specimen|nasal mucus collection http://purl.obolibrary.org/obo/MAXO_0001167 OBO:MAXO_0001166 biolink:NamedThing respiratory system mucus specimen collection Collecting of respiratory system mucus for clinical use. hp.json collection of respiratory system mucus specimen|respiratory system mucus collection http://purl.obolibrary.org/obo/MAXO_0001166 HP:0031452 biolink:PhenotypicFeature Lichenoid skin lesion Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques. hp.json http://purl.obolibrary.org/obo/HP_0031452 HP:0031453 biolink:PhenotypicFeature Oral lichenoid lesion Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions. hp.json http://purl.obolibrary.org/obo/HP_0031453 HP:0031454 biolink:PhenotypicFeature Apocrine hidrocystoma A cystic lesions that forms a benign tumor of an apocrine sweat gland. hp.json http://purl.obolibrary.org/obo/HP_0031454 HP:0031455 biolink:PhenotypicFeature Presacral ganglioneuroma A gangioleneuroma originating from sympathetic ganglion cells in the abdomen. hp.json http://purl.obolibrary.org/obo/HP_0031455 OBO:MAXO_0001161 biolink:NamedThing urine specimen collection Collecting of urine for clinical use. hp.json collection of urine specimen|urine collection http://purl.obolibrary.org/obo/MAXO_0001161 OBO:MAXO_0001160 biolink:NamedThing sputum specimen collection Collecting of sputum for clinical use. hp.json collection of sputum specimen|sputum collection http://purl.obolibrary.org/obo/MAXO_0001160 HP:0031450 biolink:PhenotypicFeature Polycyclic A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge. hp.json http://purl.obolibrary.org/obo/HP_0031450 PATO:0000318 biolink:NamedThing blue A color hue with low wavelength of that portion of the visible spectrum lying between green and indigo, evoked in the human observer by radiant energy with wavelengths of approximately 420 to 490 nanometers. hp.json http://purl.obolibrary.org/obo/PATO_0000318 value_slim|mpath_slim HP:0031451 biolink:PhenotypicFeature Lower extremity subcutanous fat hypertrophy An abnormal increase in the amount of subcutaneous fat in the legs. hp.json http://purl.obolibrary.org/obo/HP_0031451 HP:0006449 biolink:PhenotypicFeature Distal radial epiphyseal osteolysis UMLS:C1850145 hp.json http://purl.obolibrary.org/obo/HP_0006449 HP:0031456 biolink:PhenotypicFeature Ectopic pregnancy A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube). hp.json http://purl.obolibrary.org/obo/HP_0031456 HP:0006446 biolink:PhenotypicFeature Dysplastic patella UMLS:C1849580 hp.json http://purl.obolibrary.org/obo/HP_0006446 HP:0031457 biolink:PhenotypicFeature Pulmonary opacity Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality. hp.json http://purl.obolibrary.org/obo/HP_0031457 HP:0031458 biolink:PhenotypicFeature Adenoiditis An inflammation of the adenoid tissue. hp.json http://purl.obolibrary.org/obo/HP_0031458 HP:0031459 biolink:PhenotypicFeature Soft tissue neoplasm A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. hp.json http://purl.obolibrary.org/obo/HP_0031459 HP:0006441 biolink:PhenotypicFeature Lateral humeral condyle aplasia UMLS:C1833878 hp.json http://purl.obolibrary.org/obo/HP_0006441 HP:0006442 biolink:PhenotypicFeature Hypoplasia of proximal fibula Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee. UMLS:C1859478 hp.json Underdeveloped innermost upper end of calf bone|Small innermost upper end of calf bone http://purl.obolibrary.org/obo/HP_0006442 HP:0006443 biolink:PhenotypicFeature Patellar aplasia Absence of the patella. UMLS:C1868578 hp.json Absent patellae|Absent patellas|Absent patella|Aplastic patellae|Absent kneecap http://purl.obolibrary.org/obo/HP_0006443 hposlim_core HP:0006440 biolink:PhenotypicFeature Increased density of long bone diaphyses UMLS:C1844516 hp.json Increased density of shaft of long bone http://purl.obolibrary.org/obo/HP_0006440 UBERON:0014701 biolink:AnatomicalEntity extraembryonic vascular system A vascular system that overlaps a umbilical cord and is part of a entire extraembryonic component. EMAPA:16370|VHOG:0001396|EHDAA2:0000478 hp.json http://purl.obolibrary.org/obo/UBERON_0014701 CHEBI:1722 biolink:ChemicalSubstance 3beta-hydroxy-Delta(5)-steroid Any 3beta-hydroxy-steroid that contains a double bond between positions 5 and 6. KEGG:C03836|MetaCyc:3b-hydroxy-D5-steroids hp.json 3beta-hydroxy-Delta(5)-steroids|a 3beta-hydroxy-Delta(5)-steroid|3beta-hydroxy Delta(5)-steroids http://purl.obolibrary.org/obo/CHEBI_1722 3_STAR HP:0006496 biolink:PhenotypicFeature Aplasia/hypoplasia involving bones of the upper limbs Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. UMLS:C4025035 hp.json Absent/small bones of the upper limbs|Absent/underdeveloped bones of the upper limbs http://purl.obolibrary.org/obo/HP_0006496 CHEBI:60308 biolink:ChemicalSubstance 3,3',5-triiodo-L-thyroninate The anion resulting from the removal of the proton from the carboxylic acid group of 3,3',5-triiodo-L-thyronine. hp.json (2S)-2-amino-3-[4-(4-hydroxy-3-iodophenoxy)-3,5-diiodophenyl]propanoate|liothyronine(1-)|3,3',5-triiodo-L-thyronine anion|(2S)-2-amino-3-[4-(4-hydroxy-3-iodophenoxy)-3,5-diiodophenyl]propionate|3,3',5-triiodo-L-thyronine(1-)|liothyronine anion http://purl.obolibrary.org/obo/CHEBI_60308 3_STAR UBERON:0002722 biolink:AnatomicalEntity trochlear nucleus Nucleus in the midbrain at the level of the inferior colliculus near the midline, containing the motor neurons giving rise to the trochlear nerve, innervating the contralateral superior oblique extraocular muscle of the eye (Brodal, Neurological Anatomy, 3rd ed, 1981, pg. 533). BM:MB-IV|DMBA:16903|EMAPA:35886|EV:0100251|UMLS:C0152406|BAMS:IV|BIRNLEX:1488|DHBA:12206|BAMS:4N|BAMS:4|FMA:54518|ZFA:0000450|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=513|MBA:115|MA:0001075|HBA:9063|TAO:0000450 hp.json nucleus nervi trochlearis|fourth cranial nerve nucleus|nucleus of trochlear nerve|nIV|trochlear motor nucleus|motor nucleus IV|nucleus nervi trochlearis|trochlear IV nucleus http://purl.obolibrary.org/obo/UBERON_0002722 uberon_slim|vertebrate_core HP:0006498 biolink:PhenotypicFeature Aplasia/Hypoplasia of the patella Absence or underdevelopment of the patella. UMLS:C1868577|MSH:C535568 hp.json Hypoplastic or absent patella|Absent/underdeveloped kneecap|Aplastic or hypoplastic patellae|Small to absent patellae|Absent or hypoplastic patellae|Patellar aplasia/hypoplasia|Absent/small kneecap|Absent/hypoplastic patella http://purl.obolibrary.org/obo/HP_0006498 HP:0006499 biolink:PhenotypicFeature Abnormality of femoral epiphysis An anomaly of a growth plate of a femur. UMLS:C4025034 hp.json Abnormality of thighbone end part http://purl.obolibrary.org/obo/HP_0006499 HP:0006492 biolink:PhenotypicFeature Aplasia/Hypoplasia of the fibula Absence or underdevelopment of the fibula. UMLS:C1856732 hp.json Absent/underdeveloped calf bone|Hypoplastic/aplastic fibulae|Absent/small calf bone|Fibular aplasia/hypoplasia http://purl.obolibrary.org/obo/HP_0006492 HP:0006493 biolink:PhenotypicFeature Aplasia/hypoplasia involving bones of the lower limbs Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. UMLS:C4025037 hp.json Absent/underdeveloped lower limb bones|Absent/small lower limb bones http://purl.obolibrary.org/obo/HP_0006493 HP:0006494 biolink:PhenotypicFeature Aplasia/Hypoplasia involving bones of the feet UMLS:C4025036 hp.json Absent/underdeveloped foot bones|Absent/small foot bones http://purl.obolibrary.org/obo/HP_0006494 HP:0006495 biolink:PhenotypicFeature Aplasia/Hypoplasia of the ulna Absence or underdevelopment of the ulna. UMLS:C1865571 hp.json Absent/small ulna|Hypoplasia or unilateral/bilateral absence of ulna|Absent-hypoplastic ulnae|Absence/underdevelopment of inner forearm bone|Ulnar hypoplasia/aplasia http://purl.obolibrary.org/obo/HP_0006495 UBERON:0002707 biolink:AnatomicalEntity corticospinal tract The corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract. FMA:72634|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=800|BAMS:P|MBA:190|HBA:265505574|MBA:784|BM:Me-PyT|BM:CST|GAID:702|EMAPA:36600|UMLS:C0034229|DMBA:17756|BIRNLEX:1464|MESH:D011712|DHBA:12776 hp.json pyramid (Willis)|pyramidal tract|tractus corticospinalis|fasciculus cerebro-spinalis|corticospinal fibers|fasciculus pyramidalis|tractus cortico-spinalis|fibrae corticospinales|tractus corticospinalis|tractus pyramidalis http://purl.obolibrary.org/obo/UBERON_0002707 pheno_slim|human_reference_atlas|uberon_slim CHEBI:60311 biolink:ChemicalSubstance thyroid hormone Any hormone produced by the thyroid gland hp.json thyroid hormones http://purl.obolibrary.org/obo/CHEBI_60311 3_STAR CHEBI:62978 biolink:ChemicalSubstance 4-hydroxyprolinate The alpha-amino-acid anion formed by loss of a proton from the carboxy group of 4-hydroxyproline. hp.json 4-hydroxyproline anion|hydroxyprolinate|hydroxyproline anion|4-hydroxypyrrolidine-2-carboxylate http://purl.obolibrary.org/obo/CHEBI_62978 3_STAR OBO:uberon/core#layer_part_of biolink:NamedThing layer part of hp.json http://purl.obolibrary.org/obo/uberon/core#layer_part_of HP:0006480 biolink:PhenotypicFeature Premature loss of teeth Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. SNOMEDCT_US:42756003|UMLS:C0232513|SNOMEDCT_US:234974002|UMLS:C0399385 hp.json Loss of teeth|Early tooth loss|Premature exfoliation of teeth|Premature tooth loss|Premature teeth loss http://purl.obolibrary.org/obo/HP_0006480 hposlim_core CHEBI:62981 biolink:ChemicalSubstance 4-hydroxy-L-prolinate The L-alpha-amino acid anion that is the conjugate base of 4-hydroxy-L-proline, formed by proton loss from the carboxy group. It is the major microspecies present at pH > 10.6. Reaxys:4742919 hp.json (2S)-4-hydroxypyrrolidine-2-carboxylate|4-hydroxy-L-proline anion http://purl.obolibrary.org/obo/CHEBI_62981 3_STAR HP:0031405 biolink:PhenotypicFeature Poroma A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]. hp.json http://purl.obolibrary.org/obo/HP_0031405 HP:0031406 biolink:PhenotypicFeature Abnormal cytokine signaling Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. hp.json Abnormal cytokine signalling http://purl.obolibrary.org/obo/HP_0031406 HP:0031407 biolink:PhenotypicFeature Impaired cytokine signaling A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. hp.json Cytokine signalling defect|Impaired cytokine signalling|Cytokine signaling defect http://purl.obolibrary.org/obo/HP_0031407 HP:0031408 biolink:PhenotypicFeature Increased proportion of CD25+ mast cells An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). hp.json http://purl.obolibrary.org/obo/HP_0031408 HP:0031401 biolink:PhenotypicFeature Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. hp.json http://purl.obolibrary.org/obo/HP_0031401 HP:0006479 biolink:PhenotypicFeature Abnormal dental pulp morphology An abnormality of the dental pulp. UMLS:C4025042 hp.json Endodontic abnormality|Abnormality of tooth pulp|Abnormality of the dental pulp http://purl.obolibrary.org/obo/HP_0006479 HP:0031402 biolink:PhenotypicFeature Reduced antigen-specific T cell proliferation Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. hp.json Antigen-specific T cell proliferation defect|Impaired Ag-specific T cell proliferation|Impaired activated T cell proliferation|Impaired cellular adaptive immune response http://purl.obolibrary.org/obo/HP_0031402 GO:0009314 biolink:BiologicalProcess response to radiation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. hp.json response to radiation stimulus|response to electromagnetic radiation stimulus http://purl.obolibrary.org/obo/GO_0009314 HP:0031403 biolink:PhenotypicFeature Impaired pathogen-specific CD8 cytoxicity Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. hp.json Pathogen-specific CD8 cytoxicity defect http://purl.obolibrary.org/obo/HP_0031403 HP:0031404 biolink:PhenotypicFeature Impaired antigen-specific response An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). hp.json Impaired adaptive immune response http://purl.obolibrary.org/obo/HP_0031404 CHEBI:35391 biolink:ChemicalSubstance aspartate(1-) An alpha-amino-acid anion that is the conjugate base of aspartic acid. hp.json 2-ammoniosuccinate|hydrogen aspartate|2-ammoniobutanedioate|aspartate(1-)|aspartic acid monoanion http://purl.obolibrary.org/obo/CHEBI_35391 3_STAR HP:0006476 biolink:PhenotypicFeature Abnormality of the pancreatic islet cells An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. UMLS:C4025043 hp.json http://purl.obolibrary.org/obo/HP_0006476 HP:0006477 biolink:PhenotypicFeature Abnormality of the alveolar ridges Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. UMLS:C4280445|SNOMEDCT_US:235013007|UMLS:C0341007 hp.json Abnormality of alveolar processes of jaw|Abnormality of gum ridge|Abnormality of alveolar margin|Abnormality of dentoalveolar ridges|Defect in alveolar ridge http://purl.obolibrary.org/obo/HP_0006477 HP:0006470 biolink:PhenotypicFeature Thin long bone diaphyses Decreased width of the diaphysis of long bones. UMLS:C1859449 hp.json Thin shaft of long bone|Thin diaphyses of long bones http://purl.obolibrary.org/obo/HP_0006470 HP:0031409 biolink:PhenotypicFeature Abnormal lymphocyte physiology Any anomaly of lymphocyte function. hp.json http://purl.obolibrary.org/obo/HP_0031409 HP:0006471 biolink:PhenotypicFeature Fixed elbow flexion UMLS:C4025044 hp.json http://purl.obolibrary.org/obo/HP_0006471 HP:0006473 biolink:PhenotypicFeature Anterior bowing of long bones An abnormal anterior curvature of a long bone. UMLS:C1850644 hp.json http://purl.obolibrary.org/obo/HP_0006473 OBO:MAXO_0001121 biolink:NamedThing biopsy of kidney Removal of tissue from the kidney. hp.json kidney biopsy http://purl.obolibrary.org/obo/MAXO_0001121 HP:0006490 biolink:PhenotypicFeature Abnormal lower-limb metaphysis morphology UMLS:C4025039 hp.json Abnormality of the wide portion of the lower-limb bone|Abnormality of lower-limb metaphyses http://purl.obolibrary.org/obo/HP_0006490 HP:0006491 biolink:PhenotypicFeature Abnormal tibial metaphysis morphology UMLS:C4025038 hp.json Abnormality of the wide portion of shinbone|Abnormality of the tibial metaphysis|Abnormality of the wide portion of shankbone http://purl.obolibrary.org/obo/HP_0006491 OBO:MAXO_0001122 biolink:NamedThing kidney CT The use of computed tomography to produce images of structures of the kidney. hp.json CAT scan of kidney|kidney computerized axial tomography|renal CT|kidney CAT scan|kidney computed tomography|CT of kidney|kidney CT examination|renal CAT scan http://purl.obolibrary.org/obo/MAXO_0001122 HP:0031410 biolink:PhenotypicFeature Abnormal distribution of CD56 bright/dim natural killer cells An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells. hp.json Abnormal distribution of CD56 bright/dim NK cells http://purl.obolibrary.org/obo/HP_0031410 HP:0031411 biolink:PhenotypicFeature Abnormal chromosome morphology Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. Fyler:4013 hp.json http://purl.obolibrary.org/obo/HP_0031411 HP:0031416 biolink:PhenotypicFeature Abnormal nasal mucus secretion Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose. hp.json http://purl.obolibrary.org/obo/HP_0031416 HP:0031417 biolink:PhenotypicFeature Rhinorrhea Increased discharge of mucus from the nose. hp.json Nasal Discharge|Runny Nose http://purl.obolibrary.org/obo/HP_0031417 HP:0031418 biolink:PhenotypicFeature Increased body mass index Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. hp.json Increased BMI http://purl.obolibrary.org/obo/HP_0031418 HP:0031419 biolink:PhenotypicFeature Reduced sex -hormone binding protein level A decreased concentration of sex-hormone binding protein in the circulation. hp.json Reduced androgen-binding protein level http://purl.obolibrary.org/obo/HP_0031419 HP:0006489 biolink:PhenotypicFeature Abnormal femoral metaphysis morphology An anomaly of the femoral metaphysis. UMLS:C4280444|UMLS:C4025040 hp.json Abnormality of the wide portion of the femoral bone|Abnormality of the femoral metaphysis http://purl.obolibrary.org/obo/HP_0006489 HP:0031412 biolink:PhenotypicFeature Abnormal telomere morphology hp.json http://purl.obolibrary.org/obo/HP_0031412 HP:0031413 biolink:PhenotypicFeature Short telomere length An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. hp.json http://purl.obolibrary.org/obo/HP_0031413 HP:0031414 biolink:PhenotypicFeature High serum calcifediol An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3. hp.json High serum 25-hydroxycholecalciferol|High serum calcidiol http://purl.obolibrary.org/obo/HP_0031414 HP:0031415 biolink:PhenotypicFeature High serum calcitriol An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. UMLS:C1833331 hp.json Increased serum 1,25-dihydroxyvitamin D3|High serum 1,25-dihydroxyvitamin D3|High serum 1,25-dihydroxycholecalciferol|Increased serum calcitriol http://purl.obolibrary.org/obo/HP_0031415 HP:0006485 biolink:PhenotypicFeature Agenesis of incisor Agenesis of incisor. UMLS:C4020816|UMLS:C4083290|UMLS:C4020815 hp.json Failure of development of incisor|Missing incisors|Absence of incisors|Absence of front tooth|Missing front tooth http://purl.obolibrary.org/obo/HP_0006485 HP:0006486 biolink:PhenotypicFeature Abnormal dental root morphology An abnormality of the dental root. UMLS:C4025041 hp.json Dental root anomaly|Abnormality of tooth root|Abnormality of the dental root http://purl.obolibrary.org/obo/HP_0006486 HP:0006487 biolink:PhenotypicFeature Bowing of the long bones A bending or abnormal curvature of a long bone. UMLS:C1855340 hp.json Diaphyseal bowing|Bowing of long bones|Bowing of the long bones|Camptomelia|Diaphyseal bowing of long bones|Bowed long bones http://purl.obolibrary.org/obo/HP_0006487 HP:0006488 biolink:PhenotypicFeature Bowing of the arm A bending or abnormal curvature affecting a long bone of the arm. UMLS:C0426863 hp.json Bending of the arm|Bowing of the arm http://purl.obolibrary.org/obo/HP_0006488 HP:0006481 biolink:PhenotypicFeature Abnormality of primary teeth Any abnormality of the primary tooth. UMLS:C4021596 hp.json Abnormality of baby teeth|Abnormality of deciduous teeth|Abnormality of milk teeth http://purl.obolibrary.org/obo/HP_0006481 HP:0006482 biolink:PhenotypicFeature Abnormality of dental morphology An abnormality of the morphology of the tooth. MSH:D014071|UMLS:C0262444|SNOMEDCT_US:422775003|UMLS:C0040427 hp.json Dental malformations|Misshapen teeth|Dental deformity|Misshapened teeth|Malformation of teeth|Deformity of teeth|Abnormally shaped teeth|Malformed teeth|Abnormality of dental shape|Abnormality of shape of tooth http://purl.obolibrary.org/obo/HP_0006482 hposlim_core HP:0006483 biolink:PhenotypicFeature Abnormal number of teeth The presence of an altered number of of teeth. SNOMEDCT_US:335443002|UMLS:C1290508 hp.json Abnormal number of teeth|Abnormal complement of teeth|Abnormal tooth count http://purl.obolibrary.org/obo/HP_0006483 GO:0071242 biolink:BiologicalProcess cellular response to ammonium ion Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ammonium stimulus. hp.json cellular response to ammonia http://purl.obolibrary.org/obo/GO_0071242 GO:0071241 biolink:BiologicalProcess cellular response to inorganic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an inorganic substance stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071241 GO:1900118 biolink:BiologicalProcess negative regulation of execution phase of apoptosis Any process that stops, prevents or reduces the frequency, rate or extent of execution phase of apoptosis. hp.json downregulation of execution phase of apoptosis|down regulation of execution phase of apoptosis|inhibition of execution phase of apoptosis|down-regulation of execution phase of apoptosis http://purl.obolibrary.org/obo/GO_1900118 GO:1900117 biolink:BiologicalProcess regulation of execution phase of apoptosis Any process that modulates the frequency, rate or extent of execution phase of apoptosis. hp.json http://purl.obolibrary.org/obo/GO_1900117 GO:1900119 biolink:BiologicalProcess positive regulation of execution phase of apoptosis Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis. hp.json up-regulation of execution phase of apoptosis|activation of execution phase of apoptosis|upregulation of execution phase of apoptosis|up regulation of execution phase of apoptosis http://purl.obolibrary.org/obo/GO_1900119 GO:1900116 biolink:BiologicalProcess extracellular negative regulation of signal transduction Any negative regulation of signal transduction that takes place in extracellular region. hp.json negative regulation of signalling pathway in extracellular region|negative regulation of signaling pathway in extracellular region|down regulation of signal transduction in extracellular region|extracellular inhibition of signaling pathway|inhibition of signal transduction in extracellular region|downregulation of signal transduction in extracellular region|down-regulation of signal transduction in extracellular region http://purl.obolibrary.org/obo/GO_1900116 GO:1900115 biolink:BiologicalProcess extracellular regulation of signal transduction Any regulation of signal transduction that takes place in the extracellular region. hp.json regulation of signaling pathway in extracellular region|regulation of signalling pathway in extracellular region http://purl.obolibrary.org/obo/GO_1900115 GO:0071248 biolink:BiologicalProcess cellular response to metal ion Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metal ion stimulus. hp.json cellular response to metal|cellular response to heavy metal http://purl.obolibrary.org/obo/GO_0071248 GO:0071230 biolink:BiologicalProcess cellular response to amino acid stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. hp.json cellular response to amino acid http://purl.obolibrary.org/obo/GO_0071230 CHEBI:25901 biolink:ChemicalSubstance pentose A five-carbon monosaccharide which in its linear form contains either an aldehyde group at position 1 (aldopentose) or a ketone group at position 2 (ketopentose). hp.json pentoses|pentose http://purl.obolibrary.org/obo/CHEBI_25901 3_STAR GO:1900125 biolink:BiologicalProcess regulation of hyaluronan biosynthetic process Any process that modulates the frequency, rate or extent of hyaluronan biosynthetic process. hp.json regulation of hyaluronan formation|regulation of hyaluronan biosynthesis|regulation of hyaluronan anabolism|regulation of hyaluronan synthesis http://purl.obolibrary.org/obo/GO_1900125 GO:1900127 biolink:BiologicalProcess positive regulation of hyaluronan biosynthetic process Any process that activates or increases the frequency, rate or extent of hyaluronan biosynthetic process. hp.json upregulation of hyaluronan biosynthesis|upregulation of hyaluronan biosynthetic process|activation of hyaluronan synthesis|activation of hyaluronan biosynthesis|positive regulation of hyaluronan anabolism|upregulation of hyaluronan synthesis|activation of hyaluronan formation|up regulation of hyaluronan anabolism|upregulation of hyaluronan formation|positive regulation of hyaluronan synthesis|up-regulation of hyaluronan anabolism|up-regulation of hyaluronan biosynthesis|up-regulation of hyaluronan biosynthetic process|up regulation of hyaluronan synthesis|positive regulation of hyaluronan formation|up regulation of hyaluronan biosynthetic process|up regulation of hyaluronan biosynthesis|up-regulation of hyaluronan synthesis|up regulation of hyaluronan formation|positive regulation of hyaluronan biosynthesis|activation of hyaluronan biosynthetic process|activation of hyaluronan anabolism|up-regulation of hyaluronan formation|upregulation of hyaluronan anabolism http://purl.obolibrary.org/obo/GO_1900127 GO:1900126 biolink:BiologicalProcess negative regulation of hyaluronan biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of hyaluronan biosynthetic process. hp.json down regulation of hyaluronan synthesis|down-regulation of hyaluronan biosynthetic process|down-regulation of hyaluronan biosynthesis|negative regulation of hyaluronan biosynthesis|inhibition of hyaluronan anabolism|down regulation of hyaluronan formation|down-regulation of hyaluronan synthesis|negative regulation of hyaluronan synthesis|down regulation of hyaluronan biosynthetic process|down regulation of hyaluronan biosynthesis|negative regulation of hyaluronan formation|down-regulation of hyaluronan formation|inhibition of hyaluronan synthesis|inhibition of hyaluronan biosynthetic process|downregulation of hyaluronan biosynthesis|downregulation of hyaluronan biosynthetic process|downregulation of hyaluronan anabolism|inhibition of hyaluronan formation|downregulation of hyaluronan synthesis|down regulation of hyaluronan anabolism|inhibition of hyaluronan biosynthesis|downregulation of hyaluronan formation|negative regulation of hyaluronan anabolism|down-regulation of hyaluronan anabolism http://purl.obolibrary.org/obo/GO_1900126 GO:1900121 biolink:BiologicalProcess negative regulation of receptor binding Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor. hp.json downregulation of receptor binding|down regulation of receptor binding|down regulation of receptor-associated protein activity|inhibition of receptor binding|down-regulation of receptor binding|inhibition of receptor ligand http://purl.obolibrary.org/obo/GO_1900121 GO:1900120 biolink:BiologicalProcess regulation of receptor binding Any process that modulates the frequency, rate or extent of a protein or other molecule binding to a receptor. hp.json regulation of receptor ligand http://purl.obolibrary.org/obo/GO_1900120 GO:1900122 biolink:BiologicalProcess positive regulation of receptor binding Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor. hp.json activation of receptor binding|upregulation of receptor binding|up regulation of receptor binding http://purl.obolibrary.org/obo/GO_1900122 GO:1900130 biolink:BiologicalProcess regulation of lipid binding Any process that modulates the frequency, rate or extent of lipid binding. hp.json http://purl.obolibrary.org/obo/GO_1900130 CHEBI:25905 biolink:ChemicalSubstance peptide hormone Any peptide with hormonal activity in animals, whether endocrine, neuroendocrine, or paracrine. hp.json peptide hormones|polypeptide hormone http://purl.obolibrary.org/obo/CHEBI_25905 3_STAR OBO:MAXO_0001211 biolink:NamedThing screening for hepatoblastoma The use of any device, marker, or other means for the purpose of detecting the presence Hepatoblastoma, usually in asymptomatic individuals. hp.json Hepatoblastoma screening http://purl.obolibrary.org/obo/MAXO_0001211 OBO:MAXO_0001210 biolink:NamedThing screening for gastric polyps The use of any device, marker, or other means for the purpose of detecting the presence Multiple gastric polyps, usually in asymptomatic individuals. hp.json Multiple gastric polyps screening http://purl.obolibrary.org/obo/MAXO_0001210 GO:1900132 biolink:BiologicalProcess positive regulation of lipid binding Any process that activates or increases the frequency, rate or extent of lipid binding. hp.json upregulation of lipid binding|up-regulation of lipid binding|up regulation of lipid binding|activation of lipid binding http://purl.obolibrary.org/obo/GO_1900132 GO:1900131 biolink:BiologicalProcess negative regulation of lipid binding Any process that stops, prevents or reduces the frequency, rate or extent of lipid binding. hp.json down-regulation of lipid binding|down regulation of lipid binding|inhibition of lipid binding|downregulation of lipid binding http://purl.obolibrary.org/obo/GO_1900131 GO:1900141 biolink:BiologicalProcess regulation of oligodendrocyte apoptotic process Any process that modulates the frequency, rate or extent of oligodendrocyte apoptotic process. hp.json regulation of oligodendrocyte apoptosis http://purl.obolibrary.org/obo/GO_1900141 GO:1900147 biolink:BiologicalProcess regulation of Schwann cell migration Any process that modulates the frequency, rate or extent of Schwann cell migration. hp.json http://purl.obolibrary.org/obo/GO_1900147 GO:1900149 biolink:BiologicalProcess positive regulation of Schwann cell migration Any process that activates or increases the frequency, rate or extent of Schwann cell migration. hp.json up regulation of Schwann cell migration|up-regulation of Schwann cell migration|activation of Schwann cell migration|upregulation of Schwann cell migration http://purl.obolibrary.org/obo/GO_1900149 GO:1900148 biolink:BiologicalProcess negative regulation of Schwann cell migration Any process that stops, prevents or reduces the frequency, rate or extent of Schwann cell migration. hp.json downregulation of Schwann cell migration|down regulation of Schwann cell migration|inhibition of Schwann cell migration|down-regulation of Schwann cell migration http://purl.obolibrary.org/obo/GO_1900148 GO:1900143 biolink:BiologicalProcess positive regulation of oligodendrocyte apoptotic process Any process that activates or increases the frequency, rate or extent of oligodendrocyte apoptotic process. hp.json upregulation of oligodendrocyte apoptotic process|up-regulation of oligodendrocyte apoptosis|up regulation of oligodendrocyte apoptosis|positive regulation of oligodendrocyte apoptosis|up-regulation of oligodendrocyte apoptotic process|up regulation of oligodendrocyte apoptotic process|upregulation of oligodendrocyte apoptosis|activation of oligodendrocyte apoptosis|activation of oligodendrocyte apoptotic process http://purl.obolibrary.org/obo/GO_1900143 GO:1900142 biolink:BiologicalProcess negative regulation of oligodendrocyte apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of oligodendrocyte apoptotic process. hp.json down-regulation of oligodendrocyte apoptotic process|downregulation of oligodendrocyte apoptosis|down regulation of oligodendrocyte apoptotic process|downregulation of oligodendrocyte apoptotic process|inhibition of oligodendrocyte apoptosis|inhibition of oligodendrocyte apoptotic process|negative regulation of oligodendrocyte apoptosis|down-regulation of oligodendrocyte apoptosis|down regulation of oligodendrocyte apoptosis http://purl.obolibrary.org/obo/GO_1900142 GO:1900150 biolink:BiologicalProcess regulation of defense response to fungus Any process that modulates the frequency, rate or extent of defense response to fungus. hp.json regulation of response to pathogenic fungus (incompatible interaction)|regulation of defence response to fungus|regulation of defense response to fungi, incompatible interaction|regulation of defence response to fungi|regulation of defense response to fungi|regulation of resistance response to pathogenic fungus|regulation of defense response to fungus, incompatible interaction|regulation of resistance response to pathogenic fungi http://purl.obolibrary.org/obo/GO_1900150 OBO:MAXO_0001206 biolink:NamedThing screening for intestinal polyps The use of any device, marker, or other means for the purpose of detecting the presence Intestinal polyp, usually in asymptomatic individuals. hp.json Intestinal polyp screening http://purl.obolibrary.org/obo/MAXO_0001206 OBO:MAXO_0001205 biolink:NamedThing screening for colorectal polyps The use of any device, marker, or other means for the purpose of detecting the presence Colorectal polyposis, usually in asymptomatic individuals. hp.json Colorectal polyposis screening http://purl.obolibrary.org/obo/MAXO_0001205 OBO:MAXO_0001204 biolink:NamedThing screening for venous thrombosis The use of any device, marker, or other means for the purpose of detecting the presence Venous thrombosis, usually in asymptomatic individuals. hp.json Venous thrombosis screening http://purl.obolibrary.org/obo/MAXO_0001204 OBO:MAXO_0001203 biolink:NamedThing screening for breast cancer The use of any device, marker, or other means for the purpose of detecting the presence Neoplasm of the breast, usually in asymptomatic individuals. hp.json Neoplasm of the breast screening http://purl.obolibrary.org/obo/MAXO_0001203 OBO:MAXO_0001209 biolink:NamedThing screening for small intestinal polyps The use of any device, marker, or other means for the purpose of detecting the presence Small intestinal polyp, usually in asymptomatic individuals. hp.json Small intestinal polyp screening http://purl.obolibrary.org/obo/MAXO_0001209 OBO:MAXO_0001208 biolink:NamedThing screening for cervical polyps The use of any device, marker, or other means for the purpose of detecting the presence Cervical polyp, usually in asymptomatic individuals. hp.json Cervical polyp screening http://purl.obolibrary.org/obo/MAXO_0001208 OBO:MAXO_0001207 biolink:NamedThing screening for uterine polyps The use of any device, marker, or other means for the purpose of detecting the presence Ureteral polyp, usually in asymptomatic individuals. hp.json Ureteral polyp screening http://purl.obolibrary.org/obo/MAXO_0001207 GO:0071281 biolink:BiologicalProcess cellular response to iron ion Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an iron ion stimulus. hp.json cellular response to iron http://purl.obolibrary.org/obo/GO_0071281 GO:1900158 biolink:BiologicalProcess negative regulation of bone mineralization involved in bone maturation Any process that stops, prevents or reduces the frequency, rate or extent of bone mineralization involved in bone maturation. hp.json downregulation of bone mineralization involved in bone maturation|inhibition of bone mineralization involved in bone maturation|down-regulation of bone mineralization involved in bone maturation|down regulation of bone mineralization involved in bone maturation http://purl.obolibrary.org/obo/GO_1900158 GO:1900157 biolink:BiologicalProcess regulation of bone mineralization involved in bone maturation Any process that modulates the frequency, rate or extent of bone mineralization involved in bone maturation. hp.json http://purl.obolibrary.org/obo/GO_1900157 GO:1900159 biolink:BiologicalProcess positive regulation of bone mineralization involved in bone maturation Any process that activates or increases the frequency, rate or extent of bone mineralization involved in bone maturation. hp.json up-regulation of bone mineralization involved in bone maturation|up regulation of bone mineralization involved in bone maturation|activation of bone mineralization involved in bone maturation|upregulation of bone mineralization involved in bone maturation http://purl.obolibrary.org/obo/GO_1900159 HP:0006417 biolink:PhenotypicFeature Broad femoral metaphyses UMLS:C1864854 hp.json Broad wide portion of thigh bone http://purl.obolibrary.org/obo/HP_0006417 HP:0006413 biolink:PhenotypicFeature Broad tibial metaphyses UMLS:C2678328 hp.json Broad wide portion of shinbone|Broad wide portion of shankbone http://purl.obolibrary.org/obo/HP_0006413 HP:0006414 biolink:PhenotypicFeature Distal tibial bowing A bending or abnormal curvature of the distal portion of the tibia. UMLS:C4021598 hp.json Tibial bowing at ankle|Bowing of the distal tibia http://purl.obolibrary.org/obo/HP_0006414 HP:0006415 biolink:PhenotypicFeature Cortically dense long tubular bones Increased density of the compact bone of long bone. UMLS:C1849276 hp.json http://purl.obolibrary.org/obo/HP_0006415 GO:0034250 biolink:BiologicalProcess positive regulation of cellular amide metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides. hp.json positive regulation of amide metabolism http://purl.obolibrary.org/obo/GO_0034250 UBERON:0036186 biolink:AnatomicalEntity fibroelastic connective tissue FMA:83520 hp.json http://purl.obolibrary.org/obo/UBERON_0036186 GO:0034242 biolink:BiologicalProcess negative regulation of syncytium formation by plasma membrane fusion Any process that decreases the frequency, rate or extent of the formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells. hp.json http://purl.obolibrary.org/obo/GO_0034242 HP:0006429 biolink:PhenotypicFeature Broad femoral neck An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). UMLS:C1849016 hp.json Broadening of femoral neck|Wide femoral neck|Widened femoral necks|Wide neck of thigh bone http://purl.obolibrary.org/obo/HP_0006429 HP:0006423 biolink:PhenotypicFeature Peg-like central prominence of distal tibial metaphyses UMLS:C1846160 hp.json http://purl.obolibrary.org/obo/HP_0006423 HP:0006424 biolink:PhenotypicFeature Elongated radius Increased length of the radius. UMLS:C4025048 hp.json http://purl.obolibrary.org/obo/HP_0006424 GO:0034248 biolink:BiologicalProcess regulation of cellular amide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amides. hp.json regulation of amide metabolism http://purl.obolibrary.org/obo/GO_0034248 GO:0034249 biolink:BiologicalProcess negative regulation of cellular amide metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides. hp.json negative regulation of amide metabolism http://purl.obolibrary.org/obo/GO_0034249 HP:0006426 biolink:PhenotypicFeature Rudimentary to absent tibiae UMLS:C1968943 hp.json http://purl.obolibrary.org/obo/HP_0006426 HP:0006420 biolink:PhenotypicFeature Asymmetric radial dysplasia The presence of asymmetric developmental dysplasia of the radius. UMLS:C1969396 hp.json http://purl.obolibrary.org/obo/HP_0006420 GO:1900182 biolink:BiologicalProcess positive regulation of protein localization to nucleus Any process that activates or increases the frequency, rate or extent of protein localization to nucleus. hp.json up-regulation of protein localization in nucleus|up-regulation of protein localisation to nucleus|up-regulation of protein localization in cell nucleus|activation of protein localization in cell nucleus|up regulation of protein localization in nucleus|upregulation of protein localization to nucleus|up regulation of protein localisation to nucleus|positive regulation of protein localization in nucleus|activation of protein localisation to nucleus|positive regulation of protein localisation to nucleus|upregulation of protein localization in cell nucleus|upregulation of protein localization in nucleus|up-regulation of protein localization to nucleus|activation of protein localization in nucleus|upregulation of protein localisation to nucleus|up regulation of protein localization to nucleus|positive regulation of protein localization in cell nucleus|activation of protein localization to nucleus|up regulation of protein localization in cell nucleus http://purl.obolibrary.org/obo/GO_1900182 GO:1900181 biolink:BiologicalProcess negative regulation of protein localization to nucleus Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus. hp.json inhibition of protein localisation to nucleus|downregulation of protein localisation to nucleus|downregulation of protein localization in cell nucleus|down-regulation of protein localization to nucleus|down regulation of protein localization to nucleus|down regulation of protein localization in cell nucleus|inhibition of protein localization in cell nucleus|negative regulation of protein localization in cell nucleus|negative regulation of protein localization in nucleus|down-regulation of protein localization in nucleus|down-regulation of protein localization in cell nucleus|negative regulation of protein localisation to nucleus|down-regulation of protein localisation to nucleus|downregulation of protein localization to nucleus|inhibition of protein localization to nucleus|down regulation of protein localization in nucleus|down regulation of protein localisation to nucleus|inhibition of protein localization in nucleus|downregulation of protein localization in nucleus http://purl.obolibrary.org/obo/GO_1900181 GO:1900180 biolink:BiologicalProcess regulation of protein localization to nucleus Any process that modulates the frequency, rate or extent of protein localization to nucleus. hp.json regulation of protein localization in cell nucleus|regulation of protein localization in nucleus|regulation of protein localisation to nucleus http://purl.obolibrary.org/obo/GO_1900180 HP:0006409 biolink:PhenotypicFeature Progressive leg bowing Progressive bending or abnormal curvature of the leg. UMLS:C1855191 hp.json http://purl.obolibrary.org/obo/HP_0006409 GO:1900194 biolink:BiologicalProcess negative regulation of oocyte maturation Any process that stops, prevents or reduces the frequency, rate or extent of oocyte maturation. hp.json downregulation of oocyte maturation|down-regulation of oocyte maturation|down regulation of oocyte maturation|inhibition of oocyte maturation http://purl.obolibrary.org/obo/GO_1900194 GO:0034220 biolink:BiologicalProcess ion transmembrane transport A process in which an ion is transported across a membrane. hp.json ATP hydrolysis coupled ion transmembrane transport|transmembrane ion transport|ion membrane transport http://purl.obolibrary.org/obo/GO_0034220 HP:0006406 biolink:PhenotypicFeature Club-shaped proximal femur An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. UMLS:C1968611 hp.json Club-shaped innermost end of thighbone http://purl.obolibrary.org/obo/HP_0006406 GO:1900193 biolink:BiologicalProcess regulation of oocyte maturation Any process that modulates the frequency, rate or extent of oocyte maturation. hp.json http://purl.obolibrary.org/obo/GO_1900193 HP:0006407 biolink:PhenotypicFeature Irregular distal femoral epiphysis Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. UMLS:C4025050 hp.json Irregular outermost thighbone end part http://purl.obolibrary.org/obo/HP_0006407 GO:1900195 biolink:BiologicalProcess positive regulation of oocyte maturation Any process that activates or increases the frequency, rate or extent of oocyte maturation. hp.json up-regulation of oocyte maturation|up regulation of oocyte maturation|activation of oocyte maturation|upregulation of oocyte maturation http://purl.obolibrary.org/obo/GO_1900195 HP:0006408 biolink:PhenotypicFeature Distal tapering femur UMLS:C4025049 hp.json Tapering of outermost end of thighbone http://purl.obolibrary.org/obo/HP_0006408 HP:0006402 biolink:PhenotypicFeature Distal shortening of limbs UMLS:C1840307 hp.json Short outer part of limbs http://purl.obolibrary.org/obo/HP_0006402 HP:0006400 biolink:PhenotypicFeature Absent knee epiphyses UMLS:C1859462 hp.json Absent knee end part http://purl.obolibrary.org/obo/HP_0006400 GO:0048863 biolink:BiologicalProcess stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. Wikipedia:Stem_cell_differentiation hp.json http://purl.obolibrary.org/obo/GO_0048863 GO:0048864 biolink:BiologicalProcess stem cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. hp.json http://purl.obolibrary.org/obo/GO_0048864 CHEBI:25978 biolink:ChemicalSubstance phenylacetic acids Any monocarboxylic acid that is phenylacetic acid or its substituted derivatives. hp.json http://purl.obolibrary.org/obo/CHEBI_25978 3_STAR UBERON:0012167 biolink:AnatomicalEntity buccal fat pad The Buccal fat pad is one of several encapsulated fat masses in the cheek. It is a deep fat pad located on either side of the face between the buccinator muscle and several more superficial muscles. It should not be confused with the malar fat pad, which is directly below the skin of the cheek. It should also not be confused with jowl fat pads. It is implicated in the formation of hollow cheeks and the nasolabial fold, but not in the formation of jowls. FMA:59799 hp.json Bichat's fat pad|cheek fat pad http://purl.obolibrary.org/obo/UBERON_0012167 UBERON:0012168 biolink:AnatomicalEntity umbilical cord blood Blood that remains in the placenta and in the attached umbilical cord after childbirth[WP]. MESH:D005312|CALOHA:TS-1079|BTO:0004053|EFO:0001942 hp.json fetal blood|umbilical cord blood|cord blood http://purl.obolibrary.org/obo/UBERON_0012168 efo_slim GO:0048860 biolink:BiologicalProcess glioblast division The process resulting in the physical partitioning and separation of a glioblast into daughter cells. hp.json http://purl.obolibrary.org/obo/GO_0048860 GO:0061844 biolink:BiologicalProcess antimicrobial humoral immune response mediated by antimicrobial peptide An immune response against microbes mediated by anti-microbial peptides in body fluid. hp.json peptide-mediated antimicrobial humoral response|antimicrobial peptide-mediated antimicrobial humoral response http://purl.obolibrary.org/obo/GO_0061844 GO:0048869 biolink:BiologicalProcess cellular developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. hp.json http://purl.obolibrary.org/obo/GO_0048869 NCBITaxon:34346 biolink:OrganismalEntity Schizosaccharomycetales GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_34346 GO:0048872 biolink:BiologicalProcess homeostasis of number of cells Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. hp.json homeostasis of cell number|cell population homeostasis http://purl.obolibrary.org/obo/GO_0048872 CHEBI:25985 biolink:ChemicalSubstance phenylalanine derivative An amino acid derivative resulting from reaction of alanine at the amino group or the carboxy group, or from the replacement of any hydrogen of phenylalanine by a heteroatom. The definition normally excludes peptides containing phenylalanine residues. hp.json http://purl.obolibrary.org/obo/CHEBI_25985 3_STAR GO:0048873 biolink:BiologicalProcess homeostasis of number of cells within a tissue Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue. hp.json http://purl.obolibrary.org/obo/GO_0048873 UBERON:0012152 biolink:AnatomicalEntity skeleton of pedal digitopodium A subdivision of the pes skeleton consisting of both pedal acropodial skeleton and metatarsal skeleton, but excluding the tarsal skeleton. hp.json pedal digitopodium http://purl.obolibrary.org/obo/UBERON_0012152 UBERON:0012151 biolink:AnatomicalEntity skeleton of manual digitopodium A subdivision of the manus skeleton consisting of both manual acropodial skeleton and metacarpal skeleton, but excluding the carpal skeleton. hp.json manual digitopodium http://purl.obolibrary.org/obo/UBERON_0012151 UBERON:0012150 biolink:AnatomicalEntity skeleton of digitopodium A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. hp.json digitopodium|skeleton of digits http://purl.obolibrary.org/obo/UBERON_0012150 CHEBI:23324 biolink:ChemicalSubstance citrullines hp.json http://purl.obolibrary.org/obo/CHEBI_23324 1_STAR GO:0048878 biolink:BiologicalProcess chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical. hp.json http://purl.obolibrary.org/obo/GO_0048878 goslim_drosophila UBERON:0036146 biolink:AnatomicalEntity cardiopharyngeal field An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. hp.json http://purl.obolibrary.org/obo/UBERON_0036146 GO:0048870 biolink:BiologicalProcess cell motility Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. hp.json cell locomotion|movement of a cell|cell movement http://purl.obolibrary.org/obo/GO_0048870 goslim_chembl|goslim_drosophila|goslim_generic|prokaryote_subset GO:0048871 biolink:BiologicalProcess multicellular organismal homeostasis Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. hp.json http://purl.obolibrary.org/obo/GO_0048871 UBERON:0000170 biolink:AnatomicalEntity pair of lungs The pair of anatomical structures comprised of a left lung and right lung. OpenCyc:Mx4rvVjKy5wpEbGdrcN5Y29ycA|FMA:68877 hp.json lungs|lungs pair|set of lungs|pulmones http://purl.obolibrary.org/obo/UBERON_0000170 pheno_slim UBERON:0000171 biolink:AnatomicalEntity respiration organ Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. TGMA:0001247|SCTID:272626006|EMAPA:17607|SPD:0000428 hp.json breathing organ|organ of apparatus respiratorius|organ of respiratory system|apparatus respiratorius organ|respiratory organ|gas exchange organ|respiratory system organ http://purl.obolibrary.org/obo/UBERON_0000171 organ_slim|functional_classification CHEBI:37962 biolink:ChemicalSubstance adrenergic agent Any agent that acts on an adrenergic receptor or affects the life cycle of an adrenergic transmitter. hp.json adrenergic agents|adrenergic drugs|adrenergics|adrenergic neuron agents|adrenergic drug http://purl.obolibrary.org/obo/CHEBI_37962 3_STAR UBERON:0000173 biolink:AnatomicalEntity amniotic fluid Amniotic fluid is a bodily fluid consisting of watery liquid surrounding and cushioning a growing fetus within the amnion. It allows the fetus to move freely without the walls of the uterus being too tight against its body. Buoyancy is also provided. The composition of the fluid changes over the course of gestation. Initially, amniotic fluid is similar to maternal plasma, mainly water with electrolytes. As the fetus develops, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid. VHOG:0001267|CALOHA:TS-0034|EMAPA:36771|UMLS:C0002638|MESH:D000653|MA:0002893|ENVO:02000021|EV:0100123|FMA:305905|NCIT:C13188|BTO:0000068|GAID:1155 hp.json liquor amnii|acqua amnii http://purl.obolibrary.org/obo/UBERON_0000173 pheno_slim GO:0046219 biolink:BiologicalProcess indolalkylamine biosynthetic process The chemical reactions and pathways resulting in the formation of indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group. hp.json indolalkylamine anabolism|indolalkylamine synthesis|indolalkylamine biosynthesis|indolalkylamine formation http://purl.obolibrary.org/obo/GO_0046219 UBERON:0000178 biolink:AnatomicalEntity blood A fluid that is composed of blood plasma and erythrocytes. FMA:9670|UMLS:C0005767|VHOG:0000224|BTO:0000089|GAID:965|EFO:0000296|OpenCyc:Mx4rvVjI8JwpEbGdrcN5Y29ycA|ZFA:0000007|EHDAA:418|CALOHA:TS-0079|MESH:D001769|TAO:0000007|XAO:0000124|ENVO:02000027|MA:0000059|EMAPA:16332|NCIT:C12434|galen:Blood|EV:0100047|MIAA:0000315|AAO:0000046|Wikipedia:Blood|EHDAA2:0000176 hp.json vertebrate blood|portion of blood|whole blood http://purl.obolibrary.org/obo/UBERON_0000178 efo_slim|human_reference_atlas|uberon_slim|vertebrate_core|pheno_slim UBERON:0000179 biolink:AnatomicalEntity haemolymphatic fluid Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. CARO:0000081 hp.json blood or blood analog|circulating fluid http://purl.obolibrary.org/obo/UBERON_0000179 UBERON:0000174 biolink:AnatomicalEntity excreta A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity. BTO:0000491|AEO:0000184|EHDAA2_RETIRED:0003184|ENVO:02000022|FMA:9674|galen:Excretion hp.json excretion|excreted substance|waste substance|portion of excreted substance http://purl.obolibrary.org/obo/UBERON_0000174 UBERON:0036150 biolink:AnatomicalEntity skin appendage follicle An organ subunit in the skin that gives rise to cutaneous appendage. hp.json follicle|cutaneous appendage follicle|skin follicle http://purl.obolibrary.org/obo/UBERON_0036150 UBERON:0012141 biolink:AnatomicalEntity manual digitopodium region A digitopodium region that is part of a manus[Obol]. This includes the fingers and metacarpal region, but excludes the carpal region. hp.json http://purl.obolibrary.org/obo/UBERON_0012141 UBERON:0012140 biolink:AnatomicalEntity digitopodium region A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. hp.json acropodium (Wagner) http://purl.obolibrary.org/obo/UBERON_0012140 CHEBI:50910 biolink:ChemicalSubstance neurotoxin A poison that interferes with the functions of the nervous system. Wikipedia:Neurotoxin hp.json neurotoxic agents|neurotoxic agent|nerve poison|neurotoxins|neurotoxicant|nerve poisons|agente neurotoxico http://purl.obolibrary.org/obo/CHEBI_50910 3_STAR UBERON:0012142 biolink:AnatomicalEntity pedal digitopodium region A digitopodium region that is part of a pes[Obol]. This includes the toes and metatarsal region, but excludes the tarsals region. hp.json http://purl.obolibrary.org/obo/UBERON_0012142 GO:0048880 biolink:BiologicalProcess sensory system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. hp.json http://purl.obolibrary.org/obo/GO_0048880 UBERON:0000160 biolink:AnatomicalEntity intestine Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. XAO:0000129|MESH:D007422|MA:0000328|ZFA:0001338|MIAA:0000043|VHOG:0000056|EV:0100071|BSA:0000093|WBbt:0005772|NCIT:C12736|MA:0001524|TAO:0001338|BTO:0000648|EFO:0000834|UMLS:C0021853|galen:Intestine|FMA:7199|CALOHA:TS-0490|SCTID:256876008|AAO:0000246|GAID:295|EMAPA:32874|ANISEED:1235303|Wikipedia:Intestine hp.json intestinal tract|bowel http://purl.obolibrary.org/obo/UBERON_0000160 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0000161 biolink:AnatomicalEntity orifice Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. SCTID:91837002|FMA:3724 hp.json ostium|anatomical ostium|anatomical orifice|hilum http://purl.obolibrary.org/obo/UBERON_0000161 UBERON:0000162 biolink:AnatomicalEntity cloaca Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures. AAO:0000095|SCTID:362857006|XAO:0000244|MESH:D002988|VHOG:0001186|SCTID:370631000|Wikipedia:Cloaca|NCIT:C34127|GAID:1206|UMLS:C0008987|ZFA:0005781 hp.json vent|cloacal chamber http://purl.obolibrary.org/obo/UBERON_0000162 UBERON:0012139 biolink:AnatomicalEntity segment of autopod hp.json http://purl.obolibrary.org/obo/UBERON_0012139 UBERON:0000167 biolink:AnatomicalEntity oral cavity Anatomical cavity at the start of the digestive tract that that is enclosed by the mouth. The boundaries and contents vary depending on the species. In vertebrates, the boundaries are the oral opening, the cheeks, the palate and (if present) the palatoglossal arch - if this is not present then the mouth and pharynx form the oropharyngeal cavity. The buccal cavity contains the teeth, tongue and palate (when present). AAO:0000960|EV:0100057|EHDAA:6970|UMLS:C0226896|HAO:0000669|CALOHA:TS-1315|AAO:0000053|SCTID:181220002|XAO:0000126|VHOG:0000188|TGMA:0000102|WBbt:0005255|ZFA:0001027|EMAPA:17411|BSA:0000107|FMA:20292|EMAPA:18399|TAO:0001027|EHDAA2:0001324|EFO:0001975|NCIT:C12421 hp.json bucca|cavity of mouth|buccal cavity http://purl.obolibrary.org/obo/UBERON_0000167 pheno_slim|uberon_slim|vertebrate_core UBERON:0000168 biolink:AnatomicalEntity proximal-distal subdivision of colon A section dividing a colon along a proximal-distal axis. FMA:222905 hp.json segment of colon http://purl.obolibrary.org/obo/UBERON_0000168 non_informative UBERON:0000163 biolink:AnatomicalEntity embryonic cloaca Endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. Wikipedia:Cloaca_(embryology)|EMAPA:27573|EHDAA2:0000256|EHDAA:4895 hp.json cloaca http://purl.obolibrary.org/obo/UBERON_0000163 pheno_slim UBERON:0000164 biolink:AnatomicalEntity primitive urogenital sinus The ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females. EHDAA:5919|EMAPA:17379|EHDAA2:0004060|EHDAA:5029|UMLS:C0231057|NCIT:C34322|VHOG:0000414 hp.json fetal UGS|UGS|urogenital sinus|sinus urogenitalis http://purl.obolibrary.org/obo/UBERON_0000164 pheno_slim UBERON:0000165 biolink:AnatomicalEntity mouth The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks). MIAA:0000038|ZFA:0000590|SCTID:21082005|TAO:0000590|Wikipedia:Mouth|CALOHA:TS-1315|BTO:0004698|ZFA:0000547|GAID:75|TAO:0000547|XAO:0003029|EFO:0000825|FBbt:00003126|TADS:0000040|MESH:D009055|EHDAA2:0001326|TGMA:0000131|MAT:0000038|OpenCyc:Mx4rvVidh5wpEbGdrcN5Y29ycA|MA:0000341|VHOG:0000280|http://purl.obolibrary.org/obo/uberon/images/lamprey_sucker_rosava_3238889218.jpg|EHDAA:542|VHOG:0000812|EMAPA:16262|AAO:0010355|BTO:0001090|MA:0002474|FMA:49184|galen:Mouth hp.json trophic apparatus|oral vestibule|stomatodaeum|adult mouth|trophic apparatus|rima oris|cavital oralis|oral region|cavital oralis|mouth cavity|cavum oris|regio oralis|vestibule of mouth|stoma|regio oralis|cavitas oris|vestibulum oris http://purl.obolibrary.org/obo/UBERON_0000165 efo_slim|uberon_slim|major_organ|vertebrate_core|pheno_slim UBERON:0000166 biolink:AnatomicalEntity oral opening The orifice that connects the mouth to the exterior of the body. FMA:59806 hp.json oral part of face|oral orifice|mouth|oral fissure http://purl.obolibrary.org/obo/UBERON_0000166 uberon_slim|vertebrate_core UBERON:0014790 biolink:AnatomicalEntity lingual septum The lingual septum consists of a vertical layer of fibrous tissue, extending throughout the entire length of the median plane of the tongue, though not quite reaching the dorsum. It is thicker behind than in front, and occasionally contains a small fibrocartilage, about 6 mm. in length. It is well displayed by making a vertical section across the organ. Wikipedia:Lingual_septum|SCTID:368727001|FMA:54813|EMAPA:18274 hp.json septum of tongue|septum of tongue|tongue septum|median fibrous septum|septum of tongue|median fibrous septum|tongue septum http://purl.obolibrary.org/obo/UBERON_0014790 OBO:uberon/core#site_of biolink:NamedThing site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. hp.json capable_of_has_part http://purl.obolibrary.org/obo/uberon/core#site_of UBERON:0014791 biolink:AnatomicalEntity musculature of forelimb stylopod Any collection of muscles that is part of the forelimb stylopod region [Automatically generated definition]. FMA:50202 hp.json arm musculature|musculature of arm|set of muscles of arm|muscle group of arm http://purl.obolibrary.org/obo/UBERON_0014791 UBERON:0014792 biolink:AnatomicalEntity musculature of pelvic complex Any collection of muscles that is part of a pelvic complex. The pelvic complex comprises the pelvic girdle and the associated limb or fin. FMA:71297|EMAPA:37864 hp.json musculi membri inferioris|musculature of lower limb|muscles of lower limb http://purl.obolibrary.org/obo/UBERON_0014792 CHEBI:50904 biolink:ChemicalSubstance allergen A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy. Wikipedia:Allergen hp.json allergene|allergenic agent|alergeno http://purl.obolibrary.org/obo/CHEBI_50904 3_STAR CHEBI:50903 biolink:ChemicalSubstance carcinogenic agent A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. hp.json carcinogen|cancerogene|carcinogene|carcinogenic agents|cancerigene|carcinogens|agente carcinogeno|carcinogeno http://purl.obolibrary.org/obo/CHEBI_50903 3_STAR UBERON:0012131 biolink:AnatomicalEntity centrale Endochondral bone located between the proximal and distal rows of carpals or tarsals and thus representing the central carpals or tarsals[PHENOSCAPE]. EMAPA:36170|FMA:77232 hp.json central mesopodium bone|centralia|os centrale http://purl.obolibrary.org/obo/UBERON_0012131 UBERON:0014793 biolink:AnatomicalEntity musculature of pectoral complex Any collection of muscles that is part of a pectoral complex. The pectoral complex comprises the pectoral girdle and the associated limb or fin. FMA:71296|EMAPA:37861 hp.json upper limb musculature|set of muscles of upper limb|musculature of upper limb|muscles of upper limb|musculi membri superioris http://purl.obolibrary.org/obo/UBERON_0014793 UBERON:0014794 biolink:AnatomicalEntity pectoral appendage muscle Any muscle organ that is part of a pectoral appendage (forelimb or pectoral fin). hp.json http://purl.obolibrary.org/obo/UBERON_0014794 UBERON:0014795 biolink:AnatomicalEntity pelvic appendage muscle Any muscle organ that is part of a pelvic appendage (hindlimb or pelvic fin). hp.json http://purl.obolibrary.org/obo/UBERON_0014795 UBERON:0014796 biolink:AnatomicalEntity common tendinous ring A ring of fibrous tissue surrounding the optic nerve at its entrance at the apex of the orbit. FMA:49071 hp.json anulus tendineus|common anular tendon|anulus tendineus communis|anulus of Zinn|common tendinous ring|annulus tendineus communis|common annular tendon|annulus of Zinn|tendon of Zinn|ligament of Zinn|anulus tendineus communis http://purl.obolibrary.org/obo/UBERON_0014796 CHEBI:50906 biolink:ChemicalSubstance role A role is particular behaviour which a material entity may exhibit. hp.json http://purl.obolibrary.org/obo/CHEBI_50906 3_STAR UBERON:0012128 biolink:AnatomicalEntity nose tip Outermost point on an external nose or snout. FMA:59518|EMAPA:37915 hp.json pirula|tip of snout|snout tip|apex of nose|apex nasi|tip of nose|nasal tip http://purl.obolibrary.org/obo/UBERON_0012128 pheno_slim GO:0061854 biolink:BiologicalProcess positive regulation of neuroblast migration Any process that activates or increases the frequency, rate or extent of neuroblast migration. hp.json http://purl.obolibrary.org/obo/GO_0061854 GO:0061853 biolink:BiologicalProcess regulation of neuroblast migration Any process that modulates the frequency, rate or extent of neuroblast migration. hp.json http://purl.obolibrary.org/obo/GO_0061853 GO:0061855 biolink:BiologicalProcess negative regulation of neuroblast migration Any process that stops, prevents, or reduces the frequency, rate or extent of neuroblast migration. hp.json http://purl.obolibrary.org/obo/GO_0061855 UBERON:0000158 biolink:AnatomicalEntity membranous layer FMA:30322|MESH:D008566|NCIT:C12749|FMA:82500 hp.json membrane|membranous organ component http://purl.obolibrary.org/obo/UBERON_0000158 UBERON:0000159 biolink:AnatomicalEntity anal canal The terminal part of the large intestine, continuous proximally with the rectum and distally terminates with the anus. MA:0000330|MESH:D001003|SCTID:245438008|Wikipedia:Anal_canal|CALOHA:TS-2160|NCIT:C12375|FMA:15703|galen:AnalCanal|UMLS:C0227411|EMAPA:18256|BTO:0001978 hp.json cloacal chamber|canalis analis|mesenteron|pars analis recti|anus|anal pad|cloaca|anal canal|anatomical anal canal|anal canal viewed anatomically|canalis analis|canalis analis http://purl.obolibrary.org/obo/UBERON_0000159 pheno_slim|human_reference_atlas|uberon_slim UBERON:0000153 biolink:AnatomicalEntity anterior region of body hp.json http://purl.obolibrary.org/obo/UBERON_0000153 UBERON:0000154 biolink:AnatomicalEntity posterior region of body hp.json http://purl.obolibrary.org/obo/UBERON_0000154 GO:1902738 biolink:BiologicalProcess regulation of chondrocyte differentiation involved in endochondral bone morphogenesis Any process that modulates the rate, frequency, or extent of the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte that will contribute to the development of a bone. A chondrocyte is a polymorphic cell that forms cartilage. hp.json http://purl.obolibrary.org/obo/GO_1902738 CHEBI:13941 biolink:ChemicalSubstance carbamate Gmelin:239604|Beilstein:3903503|CAS:302-11-4 hp.json carbamate|Karbamat|carbamate ion|carbamic acid, ion(1-)|carbamate|Carbamat http://purl.obolibrary.org/obo/CHEBI_13941 3_STAR UBERON:0012193 biolink:AnatomicalEntity phrenic vein The veins that run parallel to the phrenic arteries which include the two superior and two inferior phrenic veins. EMAPA:37180|NCIT:C53062|UMLS:C1709532|MA:0002194 hp.json http://purl.obolibrary.org/obo/UBERON_0012193 UBERON:0012198 biolink:AnatomicalEntity intercostal space A space in the rib cage between two successive ribs. FMA:12243 hp.json http://purl.obolibrary.org/obo/UBERON_0012198 GO:1902742 biolink:BiologicalProcess apoptotic process involved in development Any apoptotic process that is involved in anatomical structure development. hp.json apoptosis signaling involved in anatomical structure development|programmed cell death by apoptosis involved in development of an anatomical structure|type I programmed cell death involved in development of an anatomical structure|apoptosis involved in development of an anatomical structure|apoptosis activator activity involved in development of an anatomical structure|induction of apoptosis involved in development of an anatomical structure|commitment to apoptosis involved in development of an anatomical structure|activation of apoptosis involved in development of an anatomical structure|programmed cell death by apoptosis involved in anatomical structure development|type I programmed cell death involved in anatomical structure development|signaling (initiator) caspase activity involved in development of an anatomical structure|apoptosis activator activity involved in anatomical structure development|commitment to apoptosis involved in anatomical structure development|apoptosis involved in anatomical structure development|induction of apoptosis involved in anatomical structure development|apoptotic programmed cell death involved in development of an anatomical structure|apoptotic program involved in development of an anatomical structure|induction of apoptosis by p53 involved in development of an anatomical structure|apoptotic process involved in development of an anatomical structure|activation of apoptosis involved in anatomical structure development|apoptotic cell death involved in development of an anatomical structure|signaling (initiator) caspase activity involved in anatomical structure development|apoptotic programmed cell death involved in anatomical structure development|apoptotic program involved in anatomical structure development|induction of apoptosis by p53 involved in anatomical structure development|apoptotic cell death involved in anatomical structure development|apoptosis signaling involved in development of an anatomical structure|apoptotic process involved in anatomical structure development http://purl.obolibrary.org/obo/GO_1902742 UBERON:0012197 biolink:AnatomicalEntity intercostal vein The intercostal veins are a group of veins which drain the area between the ribs. EMAPA:18762|MA:0003166 hp.json http://purl.obolibrary.org/obo/UBERON_0012197 PATO:0000297 biolink:NamedThing arrested A quality of a process which ends earlier than the natural end time or reference process. hp.json incomplete|abolished http://purl.obolibrary.org/obo/PATO_0000297 value_slim PATO:0000299 biolink:NamedThing mobile A mobility quality of inhering in a bearer by virtue of the bearer's disposition to move freely. hp.json http://purl.obolibrary.org/obo/PATO_0000299 disposition_slim|value_slim UBERON:0012180 biolink:AnatomicalEntity head or neck skin A zone of skin that is part of a craniocervical region. MA:0000574|UMLS:C1522650|EMAPA:37276|NCIT:C12294 hp.json http://purl.obolibrary.org/obo/UBERON_0012180 PR:P19437 biolink:Protein B-lymphocyte antigen CD20 (mouse) A membrane-spanning 4-domains subfamily A member 1 that is encoded in the genome of mouse. UniProtKB:P19437 hp.json lymphocyte antigen 44 (mouse)|mMS4A1|B-cell differentiation antigen Ly-44 (mouse)|CD20 (mouse)|Ly-44|membrane-spanning 4-domains subfamily A member 1 (mouse)|Cd20|Ms4a2|Ms4a1 http://purl.obolibrary.org/obo/PR_P19437 UBERON:0012172 biolink:AnatomicalEntity stomach primordium A primordium that has the potential to develop into a stomach. EFO:0002580|NCIT:C34305|UMLS:C1514976 hp.json stomach endoderm http://purl.obolibrary.org/obo/UBERON_0012172 efo_slim UBERON:0012177 biolink:AnatomicalEntity skin apocrine gland An apocrine gland that is part of a skin of body. MA:0000147 hp.json http://purl.obolibrary.org/obo/UBERON_0012177 UBERON:0012175 biolink:AnatomicalEntity acoustico-facial VII-VIII ganglion complex EMAPA:16794|VHOG:0000715|EHDAA2:0000494 hp.json facio-acoustic ganglion complex VII-VIII|facio-acoustic ganglion|facio-acoustic ganglion complex|facio-acoustic VII-VIII ganglion complex|acousticofacial ganglion http://purl.obolibrary.org/obo/UBERON_0012175 GO:1902761 biolink:BiologicalProcess positive regulation of chondrocyte development Any process that activates or increases the frequency, rate or extent of chondrocyte development. hp.json up-regulation of chondrocyte development|up regulation of chondrocyte development|activation of chondrocyte development|upregulation of chondrocyte development http://purl.obolibrary.org/obo/GO_1902761 UBERON:0000199 biolink:AnatomicalEntity neck of radius The narrow part of the shaft of the radius just below the head. galen:NeckOfRadius|FMA:23479 hp.json collum radii|radial neck http://purl.obolibrary.org/obo/UBERON_0000199 pheno_slim HP:0006180 biolink:PhenotypicFeature Crowded carpal bones UMLS:C1863317 hp.json Crowded wrist bones http://purl.obolibrary.org/obo/HP_0006180 HP:0031144 biolink:PhenotypicFeature Coarsened hepatic echotexture The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography. hp.json http://purl.obolibrary.org/obo/HP_0031144 HP:0031145 biolink:PhenotypicFeature Starry sky appearance on hepatic sonography An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background). hp.json http://purl.obolibrary.org/obo/HP_0031145 HP:0031146 biolink:PhenotypicFeature Impaired oral bolus formation An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. hp.json http://purl.obolibrary.org/obo/HP_0031146 HP:0031140 biolink:PhenotypicFeature Abnormal liver sonography An abnormal appearance of the liver or any of its components on sonography (ultrasound). hp.json http://purl.obolibrary.org/obo/HP_0031140 HP:0031141 biolink:PhenotypicFeature Increased hepatic echogenicity Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. hp.json Hyperechogenic liver http://purl.obolibrary.org/obo/HP_0031141 HP:0031142 biolink:PhenotypicFeature Abnormal hepatic echogenicity Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). hp.json http://purl.obolibrary.org/obo/HP_0031142 HP:0031143 biolink:PhenotypicFeature Decreased hepatic echogenicity Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device. hp.json Hypoechogenic liver http://purl.obolibrary.org/obo/HP_0031143 UBERON:0002401 biolink:AnatomicalEntity visceral pleura The inner serous membrane of the pulmonary pleural. The visceral pleura lines the lungs. NCIT:C33881|OpenCyc:Mx4rwNFqppwpEbGdrcN5Y29ycA|SCTID:361997008|EMAPA:16777|VHOG:0001496|FMA:9734|UMLS:C0225776|MA:0002489|EHDAA2:0002205 hp.json pleura visceralis (pulmonalis)|pleura visceralis|pleura pulmonalis|lung mesothelium|lung pleura|pulmonary pleura|pleura visceralis|pulmonary visceral pleura http://purl.obolibrary.org/obo/UBERON_0002401 pheno_slim|human_reference_atlas|uberon_slim UBERON:0002400 biolink:AnatomicalEntity parietal pleura The outer serous membrane of the pulmonary pleural. OpenCyc:Mx4rvv2Uq5wpEbGdrcN5Y29ycA|UMLS:C0225777|NCIT:C33273|Wikipedia:Parietal_pleura|EMAPA:16776|VHOG:0001495|FMA:9733|SCTID:361998003|MA:0002488 hp.json pleura parietalis|pleura parietalis http://purl.obolibrary.org/obo/UBERON_0002400 pheno_slim|uberon_slim GO:0009416 biolink:BiologicalProcess response to light stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. hp.json http://purl.obolibrary.org/obo/GO_0009416 goslim_plant HP:0006179 biolink:PhenotypicFeature Pseudoepiphyses of second metacarpal UMLS:C1862693 hp.json Pseudoepiphysis of the 2nd metacarpal|Extra bone on end of second long bone of hand http://purl.obolibrary.org/obo/HP_0006179 UBERON:0002402 biolink:AnatomicalEntity pleural cavity The fluid-filled cavity that lies between the visceral and parietal pleurae. NCIT:C12840|MA:0000055|FMA:9740|UMLS:C0178802|MESH:D035422|EHDAA2:0001475|Wikipedia:Pleural_cavity|OpenCyc:Mx4rwCKAppwpEbGdrcN5Y29ycA|BTO:0004422|GAID:95|SCTID:361999006|EMAPA:16774|VHOG:0000581|EMAPA:16773 hp.json cavitas pleuralis|cavitum pleurale|cavitum pleuralae|cavitas pleuralis|cavitum pleuralae|cavitum pleurale http://purl.obolibrary.org/obo/UBERON_0002402 pheno_slim|uberon_slim CHEBI:59226 biolink:ChemicalSubstance N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose An amino trisaccharide that is the carbohydrate portion of ganglioside GM3. It comprises a linear sequence of alpha-N-acetylneuraminyl, beta-D-galactosyl and beta-D-glucose residues linked (2->3) and (1->4). PMID:3768140|PMID:6672002|GlyGen:G91237TK|PMID:14613940|PMID:12950597|PMID:7507746|PMID:25568069|PMID:3142362|PMID:15179041|PMID:24027187|PMID:599156|Reaxys:4632263|PMID:7706301|Beilstein:4632263|PMID:11164910|PMID:510308|HMDB:HMDB0000825|PMID:31537530|PMID:12058986|PMID:33164488|PMID:19443021|GlyTouCan:G91237TK hp.json 3'-(N-Acetyl-a-neuraminosyl)lactose|(2->3')-alpha-Sialyllactose|alpha-Neup5Ac-(2->3)-beta-D-Galp-(1->4)-beta-D-Glcp|WURCS=2.0/3,3,2/[a2122h-1b_1-5][a2112h-1b_1-5][Aad21122h-2a_2-6_5*NCC/3=O]/1-2-3/a4-b1_b3-c2|A2,3-Sialyllactose|3'-Sialyl-D-lactose|3'-a-Sialyllactose|Neu5Acalpha2-3Galbeta1-4Glcbeta|alpha-Neu5Ac-(2->3)-beta-delta-Gal-(1->4)-delta-Glc|N-Acetylneuraminoyllactose|(2S,4S,5R,6R)-2-{[(2R,3S,4S,5R,6S)-3,5-dihydroxy-2-(hydroxymethyl)-6-{[(2R,3R,4R,5R)-1,2,4,5-tetrahydroxy-6-oxohexan-3-yl]oxy}oxan-4-yl]oxy}-5-acetamido-4-hydroxy-6-[(1R,2R)-1,2,3-trihydroxypropyl]oxane-2-carboxylic acid|3'-alpha-Sialyllactose|3'-sialyllactose|3'-N-Acetylneuraminyl-delta-lactose|(6R)-5-(acetylamino)-3,5-dideoxy-6-[(1R,2R)-1,2,3-trihydroxypropyl]-beta-L-threo-hex-2-ulopyranonosyl-(2->3)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranose|alpha-Neu5Ac-(2->3)-beta-D-Gal-(->4)-D-Glc|32-N-Acetyl-a-neuraminyllactose|5-acetamido-3,5-dideoxy-D-glycero-alpha-D-galacto-non-2-ulopyranonosyl-(2->3)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranose|3'-Monosialyllactose|a-Neu5Ac-(2->3)-b-D-Gal-(1->4)-D-Glc|GM3 carbohydrate moiety|alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose|3'-N-Acetylneuraminyl-D-lactose|3'-(N-Acetyl-alpha-neuraminosyl)lactose|(2->3')-a-Sialyllactose|Neu5Aca2-3Galb1-4Glcb|alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc|32-N-Acetyl-alpha-neuraminyllactose|N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose|3'-Sialyl-delta-lactose http://purl.obolibrary.org/obo/CHEBI_59226 3_STAR HP:0006174 biolink:PhenotypicFeature Metacarpal diaphyseal endosteal sclerosis Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone. UMLS:C1840419 hp.json http://purl.obolibrary.org/obo/HP_0006174 HP:0006175 biolink:PhenotypicFeature Proximal phalangeal periosteal thickening UMLS:C1834348|UMLS:C4280463 hp.json Thickening of connective tissue of innermost finger bone http://purl.obolibrary.org/obo/HP_0006175 HP:0006176 biolink:PhenotypicFeature Two carpal ossification centers present at birth UMLS:C1839285 hp.json Two carpal ossification centres present at birth http://purl.obolibrary.org/obo/HP_0006176 HP:0006191 biolink:PhenotypicFeature Deep palmar crease Excessively deep creases of the palm. UMLS:C1857539 hp.json Deep palmar creases|Deep palm line http://purl.obolibrary.org/obo/HP_0006191 hposlim_core HP:0006192 biolink:PhenotypicFeature Tapered phalanx of finger Phalanges of the fingers becoming thinner toward the distal end. UMLS:C4025084 hp.json Tapered finger bone http://purl.obolibrary.org/obo/HP_0006192 HP:0006193 biolink:PhenotypicFeature Thimble-shaped middle phalanges of hand The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. UMLS:C4025083 hp.json Thimble-shaped middle bones of hand http://purl.obolibrary.org/obo/HP_0006193 HP:0031150 biolink:PhenotypicFeature Vitreomacular adhesion Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions. hp.json VMA http://purl.obolibrary.org/obo/HP_0031150 HP:0006190 biolink:PhenotypicFeature Radially deviated wrists UMLS:C1861316 hp.json http://purl.obolibrary.org/obo/HP_0006190 HP:0031155 biolink:PhenotypicFeature Increased Arden ratio of electrooculogram An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. hp.json Increased Arden ratio of EOG http://purl.obolibrary.org/obo/HP_0031155 HP:0031156 biolink:PhenotypicFeature Decreased platelet glycoprotein Ib Decreased platelet cell membrane concentration of glycoprotein Ib. hp.json http://purl.obolibrary.org/obo/HP_0031156 HP:0031157 biolink:PhenotypicFeature Carotid cavernous fistula An abnormal connection between a carotid artery and the cavernous sinus. hp.json Caroticocavernous fistula http://purl.obolibrary.org/obo/HP_0031157 HP:0031158 biolink:PhenotypicFeature Widened atrophic scar An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. hp.json http://purl.obolibrary.org/obo/HP_0031158 HP:0031151 biolink:PhenotypicFeature Vitreomacular traction Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. hp.json VMT http://purl.obolibrary.org/obo/HP_0031151 HP:0031152 biolink:PhenotypicFeature Full-thickness macular hole Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. hp.json FTMH http://purl.obolibrary.org/obo/HP_0031152 CHEBI:132939 biolink:ChemicalSubstance ethylmalonate(2-) A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxylic acid groups of ethylmalonic acid. Reaxys:3904851 hp.json ethylpropanedioate http://purl.obolibrary.org/obo/CHEBI_132939 3_STAR HP:0031153 biolink:PhenotypicFeature Membranous vitreous appearance Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. hp.json Membranous anomaly|Membranous vitreous|Membranous vitreous phenotype http://purl.obolibrary.org/obo/HP_0031153 CHEBI:132938 biolink:ChemicalSubstance ethylmalonate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of ethylmalonic acid. hp.json ethylmalonic acid anion|ethylmalonate anion http://purl.obolibrary.org/obo/CHEBI_132938 3_STAR HP:0031154 biolink:PhenotypicFeature Beaded vitreous appearance Vitreous humor of the eye displaying beaded bundles of irregular diameters. hp.json http://purl.obolibrary.org/obo/HP_0031154 CHEBI:35267 biolink:ChemicalSubstance quaternary ammonium ion A derivative of ammonium, NH4(+), in which all four of the hydrogens bonded to nitrogen have been replaced with univalent (usually organyl) groups. KEGG:C06703 hp.json quaternary ammonium|quaternary ammonium ion|Quaternary amine|quaternary ammonium ions http://purl.obolibrary.org/obo/CHEBI_35267 3_STAR HP:0031159 biolink:PhenotypicFeature Thinning of Descemet membrane A reduction in the thickness of Descemet's membrane. hp.json http://purl.obolibrary.org/obo/HP_0031159 HP:0006189 biolink:PhenotypicFeature Prominent interdigital folds UMLS:C1866000 hp.json http://purl.obolibrary.org/obo/HP_0006189 HP:0006184 biolink:PhenotypicFeature Decreased palmar creases Poorly defined or shallow palmar creases. UMLS:C1857483 hp.json Shallow palmar creases|Poorly formed palmar creases|Shallow palm line|Hypoplastic palmar creases http://purl.obolibrary.org/obo/HP_0006184 hposlim_core HP:0006185 biolink:PhenotypicFeature Enlarged proximal interphalangeal joints UMLS:C1861350 hp.json Enlarged innermost hinge joint http://purl.obolibrary.org/obo/HP_0006185 HP:0006187 biolink:PhenotypicFeature obsolete Fusion of midphalangeal joints hp.json http://purl.obolibrary.org/obo/HP_0006187 HP:0006160 biolink:PhenotypicFeature Irregular metacarpals Irregular morphology of one or more metacarpal bones. UMLS:C4025086 hp.json Irregular long bones of hand http://purl.obolibrary.org/obo/HP_0006160 HP:0031160 biolink:PhenotypicFeature Myelokathexis Impaired egress of mature neutrophils from bone marrow causing neutropenia. hp.json http://purl.obolibrary.org/obo/HP_0031160 HP:0031161 biolink:PhenotypicFeature Reduced brain glutamate level by MRS An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). hp.json http://purl.obolibrary.org/obo/HP_0031161 HP:0006161 biolink:PhenotypicFeature Short metacarpals with rounded proximal ends UMLS:C1856471 hp.json Short long bone of hand with rounded innermost ends http://purl.obolibrary.org/obo/HP_0006161 HP:0031166 biolink:PhenotypicFeature Eyelid myokymia Involuntary, fine, continuous, undulating contractions of the eyelid. hp.json Myokymia orbicularis|Orbicularis myokymia http://purl.obolibrary.org/obo/HP_0031166 HP:0031167 biolink:PhenotypicFeature Triggered by ingestion of potassium-rich food Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium. hp.json Triggered by ingestion of K-rich food|Potassium-rich food triggered symptoms http://purl.obolibrary.org/obo/HP_0031167 HP:0031169 biolink:PhenotypicFeature Postterm pregnancy A pregnancy that extends to 42 weeks of gestation or beyond. hp.json http://purl.obolibrary.org/obo/HP_0031169 HP:0031162 biolink:PhenotypicFeature Impaired oropharyngeal swallow response Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. hp.json http://purl.obolibrary.org/obo/HP_0031162 HP:0031163 biolink:PhenotypicFeature Low femoral bone density Reduced bone mineral density of the femur. hp.json Low femur bone density http://purl.obolibrary.org/obo/HP_0031163 HP:0031164 biolink:PhenotypicFeature Growth arrest lines Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone. hp.json Growth resumption lines|Harris lines http://purl.obolibrary.org/obo/HP_0031164 HP:0031165 biolink:PhenotypicFeature Multifocal seizures Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). hp.json Multifocal onset seizures http://purl.obolibrary.org/obo/HP_0031165 CHEBI:60242 biolink:ChemicalSubstance monovalent inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. hp.json a monovalent cation http://purl.obolibrary.org/obo/CHEBI_60242 3_STAR CL:0002088 biolink:Cell interstitial cell of Cajal This is a cell found in the gastrointestinal tract of mammals and serves as a pacemaker that triggers gut contraction. ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which gastrointestinal stromal tumors (GISTs) arise. FMA:86573|BTO:0003914 hp.json intestinal pacemaker cell|ICC http://purl.obolibrary.org/obo/CL_0002088 HP:0006159 biolink:PhenotypicFeature Mesoaxial hand polydactyly The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. UMLS:C4021606 hp.json Interdigital finger polydactyly|Central hand polydactyly http://purl.obolibrary.org/obo/HP_0006159 hposlim_core CHEBI:35238 biolink:ChemicalSubstance amino acid zwitterion The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group. hp.json amino acid zwitterion http://purl.obolibrary.org/obo/CHEBI_35238 3_STAR CHEBI:35237 biolink:ChemicalSubstance cysteine zwitterion Gmelin:49992 hp.json (+)H3N-CH(CH2SH)-COO(-)|cysteine zwitterion|2-ammonio-3-mercaptopropanoate|2-ammonio-3-sulfanylpropanoate http://purl.obolibrary.org/obo/CHEBI_35237 3_STAR HP:0006155 biolink:PhenotypicFeature Long phalanx of finger Increased length of multiple or a single phalanx of finger. UMLS:C4025087 hp.json Long finger bone http://purl.obolibrary.org/obo/HP_0006155 HP:0006156 biolink:PhenotypicFeature Ulnar deviation of thumb Bending or curvature of a thumb towards the ulnar side (towards the ring finger). SNOMEDCT_US:299137000|UMLS:C4280465|UMLS:C0575904 hp.json Curved thumb deviated towards palm|Ulnar deviation of the 1st finger http://purl.obolibrary.org/obo/HP_0006156 CL:0002083 biolink:Cell type I cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces norepinephrine. FMA:69321 hp.json noradrenergic chromaffin cell http://purl.obolibrary.org/obo/CL_0002083 HP:0006157 biolink:PhenotypicFeature Prominent palmar flexion creases UMLS:C4280464|UMLS:C1865131 hp.json Prominent life line http://purl.obolibrary.org/obo/HP_0006157 CL:0002082 biolink:Cell type II cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces epinephrine. FMA:69322 hp.json epiniphrine secreting cell of the adrenal medulla|adrenal secreting cell of the adrenal medulla|adremergic chromaffin cell http://purl.obolibrary.org/obo/CL_0002082 HP:0006158 biolink:PhenotypicFeature obsolete Finger joint hyperextensibility hp.json http://purl.obolibrary.org/obo/HP_0006158 HP:0006152 biolink:PhenotypicFeature Proximal symphalangism of hands The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. UMLS:C4021607 hp.json Fused innermost hinge joints|Proximal interphalangeal joint synostoses http://purl.obolibrary.org/obo/HP_0006152 CHEBI:59203 biolink:ChemicalSubstance straight-chain fatty acid anion A fatty acid anion formed by deprotonation of the carboxylic acid functional group of a straight-chain fatty acid. hp.json straight-chain FA anions|straight-chain FA anion|straight-chain fatty acid anions http://purl.obolibrary.org/obo/CHEBI_59203 3_STAR CL:0002087 biolink:Cell nongranular leukocyte A leukocyte that lacks granules. FMA:62855 hp.json agranular leukocyte http://purl.obolibrary.org/obo/CL_0002087 HP:0006153 biolink:PhenotypicFeature Disharmonious carpal bone UMLS:C2675549 hp.json Disharmonious wrist bone http://purl.obolibrary.org/obo/HP_0006153 CL:0002086 biolink:Cell specialized cardiac myocyte A cardiac myocyte that is an excitable cells in the myocardium, specifically in the conducting system of heart. FMA:67968 hp.json http://purl.obolibrary.org/obo/CL_0002086 CHEBI:59202 biolink:ChemicalSubstance straight-chain fatty acid Any fatty acid whose skeletal carbon atoms form an unbranched open chain. hp.json straight-chain fatty acids http://purl.obolibrary.org/obo/CHEBI_59202 3_STAR HP:0031170 biolink:PhenotypicFeature Female fetal virilization Fetal masculinization of female external genitalia. hp.json Female foetal virilization http://purl.obolibrary.org/obo/HP_0031170 HP:0006170 biolink:PhenotypicFeature Chess-pawn distal phalanges A morphological abnormality of distal phalanges such that they have the appearance of chess pawns. UMLS:C1862097 hp.json Chess-pawn shaped outermost bone http://purl.obolibrary.org/obo/HP_0006170 HP:0031171 biolink:PhenotypicFeature Femoral spur A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck. hp.json Spurring of femur http://purl.obolibrary.org/obo/HP_0031171 HP:0031172 biolink:PhenotypicFeature Sectoral retinitis pigmentosa A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration. hp.json http://purl.obolibrary.org/obo/HP_0031172 HP:0006172 biolink:PhenotypicFeature Flattened, squared-off epiphyses of tubular bones UMLS:C1834961 hp.json Flattened, squared-off end part of tubular bones http://purl.obolibrary.org/obo/HP_0006172 HP:0031177 biolink:PhenotypicFeature Finger flexor weakness Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. hp.json http://purl.obolibrary.org/obo/HP_0031177 HP:0031178 biolink:PhenotypicFeature Fixed head retroflexion Head is bent in the posterior direction in a permanent fashion. hp.json http://purl.obolibrary.org/obo/HP_0031178 HP:0031179 biolink:PhenotypicFeature Nuchal rigidity Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. hp.json Meningism http://purl.obolibrary.org/obo/HP_0031179 HP:0031173 biolink:PhenotypicFeature Tibial spur A bony projection (spur, osteophyte) originating from the tibia. hp.json Spurring of tibiae http://purl.obolibrary.org/obo/HP_0031173 HP:0031174 biolink:PhenotypicFeature Double-layered patella An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. hp.json http://purl.obolibrary.org/obo/HP_0031174 HP:0031175 biolink:PhenotypicFeature Absent cervical vertebra A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine. hp.json http://purl.obolibrary.org/obo/HP_0031175 HP:0031176 biolink:PhenotypicFeature Absent thoracic vertebra A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine. hp.json http://purl.obolibrary.org/obo/HP_0031176 CL:0002092 biolink:Cell bone marrow cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. FMA:83621|BTO:0004850 hp.json http://purl.obolibrary.org/obo/CL_0002092 HP:0006166 biolink:PhenotypicFeature Tubular metacarpal bones UMLS:C1859369 hp.json Cylindrical shaped long bones of hand http://purl.obolibrary.org/obo/HP_0006166 HP:0006167 biolink:PhenotypicFeature Prominent proximal interphalangeal joints UMLS:C4025085 hp.json Prominent innermost hinge joints http://purl.obolibrary.org/obo/HP_0006167 HP:0006169 biolink:PhenotypicFeature Decreased mobility 3rd-5th fingers UMLS:C1833882 hp.json Decreased mobility 3rd-5th fingers http://purl.obolibrary.org/obo/HP_0006169 CHEBI:50860 biolink:ChemicalSubstance organic molecular entity Any molecular entity that contains carbon. hp.json organic compounds|organic entity|organic molecular entities http://purl.obolibrary.org/obo/CHEBI_50860 3_STAR HP:0006162 biolink:PhenotypicFeature Soft tissue swelling of interphalangeal joints UMLS:C1854913 hp.json Soft tissue swelling of hinge joints http://purl.obolibrary.org/obo/HP_0006162 CL:0002095 biolink:Cell hilus cell of ovary A cell in the hilum of the ovary that produces androgens. FMA:18710 hp.json hilar cell of ovary http://purl.obolibrary.org/obo/CL_0002095 HP:0006163 biolink:PhenotypicFeature Enlarged metacarpophalangeal joints UMLS:C1859700 hp.json http://purl.obolibrary.org/obo/HP_0006163 CHEBI:35243 biolink:ChemicalSubstance serine zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amnio group of serine. Gmelin:2060272|Beilstein:3935647 hp.json serine zwitterion|2-ammonio-3-hydroxypropanoate http://purl.obolibrary.org/obo/CHEBI_35243 3_STAR HP:0006165 biolink:PhenotypicFeature Proportionate shortening of all digits UMLS:C1862157 hp.json Proportionate shortening of all digits http://purl.obolibrary.org/obo/HP_0006165 CHEBI:50857 biolink:ChemicalSubstance anti-allergic agent A drug used to treat allergic reactions. hp.json anti-allergic drug|anti-allergic drugs|anti-allergic agents http://purl.obolibrary.org/obo/CHEBI_50857 3_STAR UBERON:0002437 biolink:AnatomicalEntity cerebral hemisphere white matter White matter that is part of a cerebral hemisphere. BTO:0000236|NCIT:C49347|UMLS:C1284115|UMLS:C0152295|EMAPA:35237|MA:0000945|UMLS:C0152295|FMA:61822|SCTID:361691006|FMA:256174|CALOHA:TS-2362|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=189|BIRNLEX:711|BAMS:cw|FMA:241998 hp.json substantia medullaris cerebri|white matter structure of cerebral hemisphere|cerebral white matter|cerebral hemisphere white matter|region of cerebral white matter|hemisphere white matter http://purl.obolibrary.org/obo/UBERON_0002437 pheno_slim CHEBI:25899 biolink:ChemicalSubstance pentitol An alditol obtained by reduction of any pentose. hp.json pentitol|pentitols http://purl.obolibrary.org/obo/CHEBI_25899 3_STAR HP:0033763 biolink:PhenotypicFeature Death in adulthood Cessation of life at the age of 16 years or later. hp.json http://purl.obolibrary.org/obo/HP_0033763 HP:0031100 biolink:PhenotypicFeature Decreased inhibin B level A reduced concentration of inhibin B in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031100 HP:0033762 biolink:PhenotypicFeature Middle cerebral artery stroke Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain. hp.json http://purl.obolibrary.org/obo/HP_0033762 CHEBI:35219 biolink:ChemicalSubstance plant growth retardant hp.json plant growth inhibitors|plant growth inhibitor|plant growth retardants http://purl.obolibrary.org/obo/CHEBI_35219 3_STAR HP:0031101 biolink:PhenotypicFeature Abnormal circulating antimullerian hormone concentration Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. hp.json Abnormal antimullerian hormone level http://purl.obolibrary.org/obo/HP_0031101 HP:0033765 biolink:PhenotypicFeature Death in late adulthood Death at an age of at least 60 years. hp.json http://purl.obolibrary.org/obo/HP_0033765 PATO:0000688 biolink:NamedThing asynchronous A quality of a single process inhering in a bearer by virtue of the bearer's not occurring or existing at the same time or having the same period or phase. hp.json http://purl.obolibrary.org/obo/PATO_0000688 value_slim HP:0031102 biolink:PhenotypicFeature Increased antimullerian hormone level An elevation above the normal range of the antimullerian hormone in the circulation. hp.json Increased plasma AMH http://purl.obolibrary.org/obo/HP_0031102 CHEBI:50858 biolink:ChemicalSubstance corticosteroid A natural or synthetic analogue of the hormones secreted by the adrenal gland. hp.json corticosteroides|corticoides|corticosteroids http://purl.obolibrary.org/obo/CHEBI_50858 3_STAR HP:0031103 biolink:PhenotypicFeature Decreased antimullerian hormone level A reduction below the normal range of the antimullerian hormone in the circulation. hp.json Decreased plasma AMH http://purl.obolibrary.org/obo/HP_0031103 HP:0033764 biolink:PhenotypicFeature Death in middle age Death between the age of 40 and 60 years. hp.json http://purl.obolibrary.org/obo/HP_0033764 CHEBI:23230 biolink:ChemicalSubstance chromanes hp.json http://purl.obolibrary.org/obo/CHEBI_23230 3_STAR PATO:0000689 biolink:NamedThing continuous A quality of a single process inhering in a bearer by virtue of the bearer's being uninterrupted in time, sequence, substance, or extent. hp.json uninterrupted http://purl.obolibrary.org/obo/PATO_0000689 value_slim HP:0033761 biolink:PhenotypicFeature Xanthogranulomatous pyelonephritis Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells. hp.json http://purl.obolibrary.org/obo/HP_0033761 HP:0033760 biolink:PhenotypicFeature Decreased maximal oxygen uptake Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload. hp.json http://purl.obolibrary.org/obo/HP_0033760 HP:0031108 biolink:PhenotypicFeature Triceps weakness A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. hp.json http://purl.obolibrary.org/obo/HP_0031108 CL:0002067 biolink:Cell type A enteroendocrine cell An enteroendocrine cell that produces glucagon. FMA:62939 hp.json http://purl.obolibrary.org/obo/CL_0002067 HP:0031109 biolink:PhenotypicFeature Agalactia Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant. hp.json Lactation incapacity http://purl.obolibrary.org/obo/HP_0031109 CL:0002068 biolink:Cell Purkinje myocyte Specialized cardiac myocyte that is subendocardially interspersed with the regular cardiac muscle cell. They are uninucleate cylindrical cells, associated end-to-end in long rows, continue from the node to the atrioventricular bundle; relatively short compared to ordinary myocytes but are nearly twice their diameter. BTO:0001032|FMA:14146 hp.json Purkinje cell fiber|Purkinje muscle cell|myocytus conducens cardiacus http://purl.obolibrary.org/obo/CL_0002068 HP:0031104 biolink:PhenotypicFeature Insulin receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor. hp.json http://purl.obolibrary.org/obo/HP_0031104 HP:0033767 biolink:PhenotypicFeature Abnormal single motor unit action potential Abnormally high or low single motor unit action potential reading (-Pk Amps). hp.json http://purl.obolibrary.org/obo/HP_0033767 HP:0031105 biolink:PhenotypicFeature Abnormal uterus morphology Any anomaly of the structure of the uterus hp.json http://purl.obolibrary.org/obo/HP_0031105 HP:0033766 biolink:PhenotypicFeature Polymelia Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis). hp.json http://purl.obolibrary.org/obo/HP_0033766 HP:0031106 biolink:PhenotypicFeature T-shaped uterus An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging. hp.json http://purl.obolibrary.org/obo/HP_0031106 HP:0033769 biolink:PhenotypicFeature Fundic gland polyposis Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps. hp.json Gastric polyposis|Proximal polyposis of the stomach|Fundic gland polyps http://purl.obolibrary.org/obo/HP_0033769 HP:0031107 biolink:PhenotypicFeature Decreased fibular diameter Reduced width of the cross sectional diameter of the fibula. hp.json Thin fibula http://purl.obolibrary.org/obo/HP_0031107 HP:0033768 biolink:PhenotypicFeature Penile thrush Overgrowth of candida albicans in the penis. hp.json Penile candidiasis http://purl.obolibrary.org/obo/HP_0033768 UBERON:0002445 biolink:AnatomicalEntity ulnare The postaxial bone of the proximal carpal region. Found in close approximation to the ulna, often in articulation[PHENOSCAPE:ad]. NCIT:C12858|MA:0001347|EMAPA:36167|AAO:0000845|galen:Triquetral|FMA:23715|UMLS:C0223739 hp.json os triquetrum|triquetral bone|triangular|ulnar carpal bone|os ulnare|cuneiform bone of manus|triangular bone|triquetrum|cuneiform of hand|triquetral|cuneiform bone of hand http://purl.obolibrary.org/obo/UBERON_0002445 uberon_slim UBERON:0002446 biolink:AnatomicalEntity patella A large sesamoid bone found in the distal femur/proximal tibial region of the hindlimb of tetrapods. The patella is the attachment site for proximal hindlimb tendons.[PHENOSCAPE:ad]. EMAPA:35668|NCIT:C33282|MESH:D010329|GAID:203|galen:Patella|FMA:24485|UMLS:C0030647|MA:0001374 hp.json patella|knee bone|knee cap http://purl.obolibrary.org/obo/UBERON_0002446 human_reference_atlas|uberon_slim|pheno_slim CL:0002062 biolink:Cell type I pneumocyte A type I pneumocyte is a flattened, branched pneumocyte that covers more than 98% of the alveolar surface. This large cell has thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange. BTO:0000780|FMA:62500 hp.json type I alveolar epithelial cells|membranous pneumocytes|ATI|type I alveolar cells|squamous alveolar cell|pulmonary alveolar type I cell|small alveolar cells|squamous alveolar lining cell|type 1 alveolar epithelial cells|AT1|type 1 pneumocyte|lung type 1 cells http://purl.obolibrary.org/obo/CL_0002062 UBERON:0002443 biolink:AnatomicalEntity choroidal blood vessel A blood vessel that is part of a choroid [Automatically generated definition]. FMA:76550|MA:0001237|EMAPA:17828 hp.json vasa sanguinea choroideae|blood vessel of posterior uvea|blood vessel of choroid coat|choroid coat blood vessel|posterior uvea blood vessel|choroidea blood vessel|blood vessel of choroid|choroid blood vessels set|choroid blood vessel|blood vessel of choroidea|set of choroid blood vessels|choroid blood vessels http://purl.obolibrary.org/obo/UBERON_0002443 pheno_slim UBERON:0002442 biolink:AnatomicalEntity axillary nerve trunk FMA:65265|EMAPA:37719|MA:0001175 hp.json trunk of right axillary nerve|circumflex nerve trunk|right axillary neural trunk http://purl.obolibrary.org/obo/UBERON_0002442 CL:0002064 biolink:Cell pancreatic acinar cell A secretory cell found in pancreatic acini that secretes digestive enzymes and mucins. This cell is a typical zymogenic cell, have a basal nucleus and basophilic cytoplasm consisting of regular arrays of granular endoplasmic reticulum with mitochondria and dense secretory granules. FMA:63032|CALOHA:TS-0737|BTO:0000028 hp.json acinar cell of pancreas http://purl.obolibrary.org/obo/CL_0002064 CHEBI:50846 biolink:ChemicalSubstance immunomodulator Biologically active substance whose activity affects or plays a role in the functioning of the immune system. Wikipedia:Immunotherapy hp.json Biomodulator|Immunological factor|immunomodulators|Immunologic factor|Immune factor http://purl.obolibrary.org/obo/CHEBI_50846 3_STAR UBERON:0002427 biolink:AnatomicalEntity arm skin A zone of skin that is part of an arm [Automatically generated definition]. UMLS:C0222204|EMAPA:37350|NCIT:C52754|MA:0000596 hp.json skin of arm|brachial region skin http://purl.obolibrary.org/obo/UBERON_0002427 UBERON:0002426 biolink:AnatomicalEntity chest muscle Any muscle organ that is part of a chest [Automatically generated definition]. EMAPA:17748|FMA:9619|EMAPA:17747|MA:0000548|CALOHA:TS-1037|BTO:0000508 hp.json anterior thoracic region muscle organ|muscle organ of anterolateral part of thorax|muscle organ of chest|muscle organ of front of thorax|muscle of thorax|muscle organ of anterior thoracic region|anterolateral part of thorax muscle organ|musculus thoracicus|front of thorax muscle organ|chest muscle organ|thoracic muscle http://purl.obolibrary.org/obo/UBERON_0002426 UBERON:0002429 biolink:AnatomicalEntity cervical lymph node Cervical lymph nodes are lymph nodes found in the neck. [WP,unvetted]. UMLS:C0588054|NCIT:C32298|FMA:61213|MA:0000736 hp.json lymph node of neck http://purl.obolibrary.org/obo/UBERON_0002429 pheno_slim|uberon_slim UBERON:0002428 biolink:AnatomicalEntity limb bone A bone that is part of a limb [Automatically generated definition]. NCIT:C32223|MAT:0000151|UMLS:C0582791|MIAA:0000151|EFO:0000945 hp.json bone of extremity|free limb bone|bone of limb http://purl.obolibrary.org/obo/UBERON_0002428 pheno_slim|efo_slim HP:0031111 biolink:PhenotypicFeature Cutaneous hamartoma A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin. hp.json Skin hamartoma http://purl.obolibrary.org/obo/HP_0031111 HP:0033774 biolink:PhenotypicFeature Impaired renal tubular reabsorption of uric acid Decreased renal tubular reabsorption of uric acid. hp.json http://purl.obolibrary.org/obo/HP_0033774 PATO:0010001 biolink:NamedThing disconnected hp.json http://purl.obolibrary.org/obo/PATO_0010001 HP:0033773 biolink:PhenotypicFeature Decreased RV/TLC ratio An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. hp.json http://purl.obolibrary.org/obo/HP_0033773 HP:0033776 biolink:PhenotypicFeature Enamel pearls Small nodules of enamel on the root of a tooth. hp.json http://purl.obolibrary.org/obo/HP_0033776 HP:0033775 biolink:PhenotypicFeature Pulmonary imaging sign An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images. hp.json http://purl.obolibrary.org/obo/HP_0033775 HP:0033770 biolink:PhenotypicFeature Gastric adenocarcinoma An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia. hp.json http://purl.obolibrary.org/obo/HP_0033770 HP:0033772 biolink:PhenotypicFeature Abnormal RV/TLC ratio Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. hp.json http://purl.obolibrary.org/obo/HP_0033772 HP:0031110 biolink:PhenotypicFeature Twin-to-twin transfusion As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure. hp.json Twin to twin transfusion syndrome http://purl.obolibrary.org/obo/HP_0031110 UBERON:0014411 biolink:AnatomicalEntity greater sciatic notch On the dorsal border of the wing of the ilium , at it's junction with the shaft is a cut away. This forms the Greater sciatic notch. The sciatic nerve runs over the notch in passage to the hindlimb. FMA:16902 hp.json greater sacrosciatic notch|incisura ischiadica major http://purl.obolibrary.org/obo/UBERON_0014411 pheno_slim CHEBI:23240 biolink:ChemicalSubstance chromophore The part (atom or group of atoms) of a molecular entity in which the electronic transition responsible for a given spectral band is approximately localized. Wikipedia:Chromophore hp.json chromophore|chromophores http://purl.obolibrary.org/obo/CHEBI_23240 3_STAR HP:0033771 biolink:PhenotypicFeature Pleuritic chest pain Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling. hp.json http://purl.obolibrary.org/obo/HP_0033771 CHEBI:37886 biolink:ChemicalSubstance adrenergic agonist An agent that selectively binds to and activates adrenergic receptors. hp.json adrenergic receptor agonist|adrenomimetic|adrenergic agonists|adrenomimetics|adrenoceptor agonists http://purl.obolibrary.org/obo/CHEBI_37886 3_STAR CHEBI:35223 biolink:ChemicalSubstance catalyst A substance that increases the rate of a reaction without modifying the overall standard Gibbs energy change in the reaction. hp.json catalyst|Katalysator|catalizador|catalyseur http://purl.obolibrary.org/obo/CHEBI_35223 3_STAR CL:0002078 biolink:Cell meso-epithelial cell Epithelial cell derived from mesoderm or mesenchyme. FMA:69076 hp.json epithelial mesenchymal cell http://purl.obolibrary.org/obo/CL_0002078 HP:0031119 biolink:PhenotypicFeature Bicuspid aortic valve with right-left cusp fusion A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure. hp.json http://purl.obolibrary.org/obo/HP_0031119 CHEBI:35222 biolink:ChemicalSubstance inhibitor A substance that diminishes the rate of a chemical reaction. hp.json inhibitor|inhibiteur|inhibidor|inhibitors http://purl.obolibrary.org/obo/CHEBI_35222 3_STAR CL:0002077 biolink:Cell ecto-epithelial cell An epithelial cell derived from ectoderm. FMA:69074 hp.json http://purl.obolibrary.org/obo/CL_0002077 HP:0033778 biolink:PhenotypicFeature Leung cusp An additional cusp located in the middle of the occlusal surface. hp.json http://purl.obolibrary.org/obo/HP_0033778 HP:0033777 biolink:PhenotypicFeature Supernumerary cusp Additional cusps of a dental crown. hp.json Additional cusp|Extra cusp http://purl.obolibrary.org/obo/HP_0033777 PATO:0000692 biolink:NamedThing heterochronic A quality of a single process inhering in a bearer by virtue of the bearer's origin or development at an unusual time or out of the regular sequence. hp.json http://purl.obolibrary.org/obo/PATO_0000692 value_slim HP:0031117 biolink:PhenotypicFeature Purely bicuspid aortic valve A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. hp.json http://purl.obolibrary.org/obo/HP_0031117 HP:0031118 biolink:PhenotypicFeature Single raphe bicuspid aortic valve A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size. hp.json http://purl.obolibrary.org/obo/HP_0031118 PATO:0000694 biolink:NamedThing premature A quality of a process which starts earlier than the natural start time or the reference process. hp.json precocious|advanced|early http://purl.obolibrary.org/obo/PATO_0000694 value_slim HP:0033779 biolink:PhenotypicFeature Barrel-shaped tooth A tooth crown with convex mesial and distal surfaces. hp.json http://purl.obolibrary.org/obo/HP_0033779 CL:0002072 biolink:Cell nodal myocyte A specialized cardiac myocyte in the sinoatrial and atrioventricular nodes. The cell is slender and fusiform confined to the nodal center, circumferentially arranged around the nodal artery. FMA:67101|BTO:0004190 hp.json P cell|myocytus nodalis|cardiac pacemaker cell|pacemaker cell http://purl.obolibrary.org/obo/CL_0002072 UBERON:0002435 biolink:AnatomicalEntity striatum A region of the forebrain consisting of the caudate nucleus, putamen and fundus striati.[GO]. ncithesaurus:Striatum|MBA:477|FMA:83683|EMAPA:17549|UMLS:C0162512|HBA:4277|BM:N|DMBA:15851|BTO:0000418|PBA:10080|EFO:0000109|BIRNLEX:1672|DHBA:10333|FMA:77618|BAMS:STR|BAMS:Str|MESH:D017072|MA:0000891|NCIT:C111122|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=225|BAMS:Striatum hp.json caudate putamen|striatum|striate nucleus|neostriatum|neostriatum|corpus striatum|striatum of neuraxis|striated nucleus|dorsal striatum|corpus striatum (Zilles)|neuraxis striatum http://purl.obolibrary.org/obo/UBERON_0002435 pheno_slim|uberon_slim CL:0002074 biolink:Cell myocardial endocrine cell The myoendocrine cellis a specialized myocyte localized mainly in the right and left atrial appendages, and also scattered within other areas of the atria and along the conductive system in the ventricular septum. The most conspicuous feature distinguishing myoendocrine cells from other atrial myoctyes is the presence of membane-bounded secretory granules (these granules contain precursor of cardiodilatins or atrial natriuretic polypeptides). FMA:67111 hp.json http://purl.obolibrary.org/obo/CL_0002074 CL:0002073 biolink:Cell transitional myocyte Specialized cardiac myocyte which is in the internodal tract and atrioventricular node. The cell is more slender than ordinary atrial myocytes and has more myofibrils than nodal myocytes. FMA:67142 hp.json http://purl.obolibrary.org/obo/CL_0002073 CHEBI:35221 biolink:ChemicalSubstance antimetabolite A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization. Wikipedia:Antimetabolite hp.json antimetabolite|antimetabolites http://purl.obolibrary.org/obo/CHEBI_35221 3_STAR CL:0002076 biolink:Cell endo-epithelial cell An epithelial cell derived from endoderm. FMA:69075 hp.json http://purl.obolibrary.org/obo/CL_0002076 UBERON:0002419 biolink:AnatomicalEntity skin gland A gland that is part of a skin of body [Automatically generated definition]. MA:0000146|SCTID:110485007|EMAPA:35774|FMA:71878 hp.json skin glands set|set of skin glands|skin glands|glandulae cutis http://purl.obolibrary.org/obo/UBERON_0002419 organ_slim CHEBI:23213 biolink:ChemicalSubstance choline ester hp.json http://purl.obolibrary.org/obo/CHEBI_23213 UBERON:0002416 biolink:AnatomicalEntity integumental system Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle. UMLS:C0037267|XAO:0000176|Wikipedia:Integumentary_system|TADS:0000108|BILA:0000118|SCTID:361692004|VHOG:0000403|EHDAA:6520|NCIT:C12907|MAT:0000033|MESH:D034582|FBbt:00004969|EV:0100151|EFO:0000807|EHDAA2:0000836|MIAA:0000033|AEO:0000154|EMAPA:17524|FMA:72979|CARO:0002001|HAO:0000421|CALOHA:TS-1299|EHDAA2_RETIRED:0003154|galen:Surface|MA:0000014 hp.json integumentum commune|integumentary system|body surface|organism surface|external covering of organism|dermal system|integumentum commune|surface http://purl.obolibrary.org/obo/UBERON_0002416 grouping_class|pheno_slim|efo_slim UBERON:0002415 biolink:AnatomicalEntity tail An external caudal extension of the body. In chordates, the tail is post-anal, in other animals the anus ends in the tail. AEO:0000109|EFO:0000963|BILA:0000117|BTO:0001348|GAID:1245|OpenCyc:Mx4rvVjiC5wpEbGdrcN5Y29ycA|WBbt:0005741|MAT:0000094|EHDAA:9198|MIAA:0000094|MESH:D013623 hp.json caudal subdivision http://purl.obolibrary.org/obo/UBERON_0002415 grouping_class|pheno_slim|efo_slim|uberon_slim CHEBI:23217 biolink:ChemicalSubstance cholines hp.json http://purl.obolibrary.org/obo/CHEBI_23217 UBERON:0002418 biolink:AnatomicalEntity cartilage tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. TAO:0001501|VSAO:0000040|galen:Cartilage|NCIT:C32268|ZFA:0005622|BTO:0000206|MESH:D002356|Wikipedia:Cartilage|MAT:0000189|OpenCyc:Mx4rvVjeOZwpEbGdrcN5Y29ycA|VHOG:0001207|XAO:0000170|GAID:99|EMAPA:32730|NCIT:C12373|MIAA:0000189|EV:0100141|EHDAA2:0003087|EFO:0000949|SCTID:309312004|AEO:0000087|MA:0000104|FMA:37377|AAO:0000060|UMLS:C0007301 hp.json chondrogenic tissue|cartilage tissue|cartilages|cartilage|portion of cartilage tissue|cartilaginous tissue http://purl.obolibrary.org/obo/UBERON_0002418 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0002417 biolink:AnatomicalEntity abdominal segment of trunk The abdominal segment of the torso. FMA:259211|MA:0000021|SCTID:362875007|EMAPA:35104|Wikipedia:Lumbar hp.json lumbar region|lower trunk|lower body|lumbar region|abdomen/pelvis/perineum http://purl.obolibrary.org/obo/UBERON_0002417 UBERON:0014401 biolink:AnatomicalEntity renal venous blood vessel Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. MA:0002591|EMAPA:31450 hp.json kidney venous system|kidney venous blood vessel|venous blood vessel of kidney http://purl.obolibrary.org/obo/UBERON_0014401 pheno_slim HP:0031122 biolink:PhenotypicFeature Two-raphe bicuspid aortic valve A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis. hp.json http://purl.obolibrary.org/obo/HP_0031122 HP:0033785 biolink:PhenotypicFeature Enamel agenesis Complete or almost complete absence of enamel. hp.json http://purl.obolibrary.org/obo/HP_0033785 UBERON:0014402 biolink:AnatomicalEntity sex-specific anatomical structure A part of the body present only in a specific gender. WBbt:0005752|AEO:0000174 hp.json gender-specific anatomical structure|sex-specific|gender-specific http://purl.obolibrary.org/obo/UBERON_0014402 HP:0033784 biolink:PhenotypicFeature Dentin dysplasia This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications. hp.json http://purl.obolibrary.org/obo/HP_0033784 HP:0031123 biolink:PhenotypicFeature Recurrent gastroenteritis Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. hp.json http://purl.obolibrary.org/obo/HP_0031123 HP:0033787 biolink:PhenotypicFeature Cementum hypoplasia The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth. hp.json Cementum aplasia http://purl.obolibrary.org/obo/HP_0033787 HP:0031124 biolink:PhenotypicFeature Decreased platelet thromboxane A2 receptor Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2). hp.json http://purl.obolibrary.org/obo/HP_0031124 HP:0031125 biolink:PhenotypicFeature Decreased platelet alpha-2A-adrenergic receptor Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine. hp.json http://purl.obolibrary.org/obo/HP_0031125 HP:0033786 biolink:PhenotypicFeature Hypomature enamel Enamel with a white or brown discoloration without hypoplasia. hp.json Enamel opacity http://purl.obolibrary.org/obo/HP_0033786 UBERON:0014404 biolink:AnatomicalEntity female anatomical structure A part of the body present only in females. AEO:0000176 hp.json http://purl.obolibrary.org/obo/UBERON_0014404 HP:0033781 biolink:PhenotypicFeature Tapered tooth A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors. hp.json http://purl.obolibrary.org/obo/HP_0033781 HP:0033780 biolink:PhenotypicFeature Bulbous tooth A tooth crown with a marked cervical area constriction. hp.json http://purl.obolibrary.org/obo/HP_0033780 HP:0033783 biolink:PhenotypicFeature Molar incisor malformation Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars. hp.json http://purl.obolibrary.org/obo/HP_0033783 HP:0031120 biolink:PhenotypicFeature Bicuspid aortic valve with right-noncoronary cusp fusion A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure. hp.json http://purl.obolibrary.org/obo/HP_0031120 UBERON:0014400 biolink:AnatomicalEntity hepatic sinusoidal space A sinusoidal space that is part of a hepatic sinusoid. FMA:262090 hp.json lumen of hepatic sinusoid http://purl.obolibrary.org/obo/UBERON_0014400 HP:0033782 biolink:PhenotypicFeature Semilunar tooth An incisor with a half-moon shape incisal edge. hp.json Crescent-shape tooth|Tooth, semilunar|Hutchinson incisor|Semicircular tooth http://purl.obolibrary.org/obo/HP_0033782 HP:0031121 biolink:PhenotypicFeature Bicuspid aortic valve with left-noncoronary cusp fusion A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure. hp.json http://purl.obolibrary.org/obo/HP_0031121 HP:0031126 biolink:PhenotypicFeature Impaired clot retraction Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. hp.json http://purl.obolibrary.org/obo/HP_0031126 HP:0033789 biolink:PhenotypicFeature Triggered by cheese ingestion Applies to a sign or symptom that is provoked or brought about by eating cheese. hp.json http://purl.obolibrary.org/obo/HP_0033789 HP:0033788 biolink:PhenotypicFeature Cementum overgrowth Excess of cementum on the tooth root surface. hp.json Cementation hyperplasia|Cementum hypertrophy|Cementum overdeveloped|Drumstick-shaped root|Hypercementosis http://purl.obolibrary.org/obo/HP_0033788 HP:0031127 biolink:PhenotypicFeature Impaired convulxin-induced platelet aggregation Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin. hp.json http://purl.obolibrary.org/obo/HP_0031127 HP:0031128 biolink:PhenotypicFeature Impaired collagen-related peptide-induced platelet aggregation Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP. hp.json http://purl.obolibrary.org/obo/HP_0031128 HP:0031129 biolink:PhenotypicFeature Impaired phorbol myristate acetate-induced platelet aggregation Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA. hp.json http://purl.obolibrary.org/obo/HP_0031129 UBERON:0002423 biolink:AnatomicalEntity hepatobiliary system The part of the digestive system that contains the liver and the biliary system. MAT:0000024|CALOHA:TS-1308|AAO:0011056|EV:0100088|MIAA:0000024|UMLS:C1711359|NCIT:C43612|EMAPA:16840|MA:0000324|EHDAA2:0000998|ZFA:0000036|VHOG:0000294|EFO:0000800|XAO:0000132|TAO:0000036|EHDAA:2189 hp.json hepaticobiliary system|liver/biliary system|liver and biliary system http://purl.obolibrary.org/obo/UBERON_0002423 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0002422 biolink:AnatomicalEntity fourth ventricle Part of the ventricular system of the brain, forming a single large irregularly shaped cavity located on the midline of the rhombencephalon, between the medulla, pons and the isthmus ventrally and the cerebellum dorsally. It is continuous with the cerebral aqueduct anteriorally and the central canal of the spinal cord posteriorly. It communicates with the subarachnoid space through its lateral and median apertures. EV:0100310|BTO:0003426|MA:0000196|TAO:0000110|EHDAA2:0000100|BAMS:4V|VHOG:0000006|FMA:78469|DHBA:12805|NCIT:C12828|AAO:0011043|MBA:145|BAMS:V4|DHBA:10669|DMBA:126651782|MESH:D020546|BIRNLEX:1256|CALOHA:TS-2015|GAID:610|OpenCyc:Mx4rv-7Q6pwpEbGdrcN5Y29ycA|HBA:9421|BM:Pons-4V|EHDAA:896|ZFA:0000110|EMAPA:16917|XAO:0003099|UMLS:C0149556 hp.json rhombencephalic vesicle|ventriculus quartus|IVth ventricle|ventricle of rhombencephalon|ventricle IV|hindbrain ventricle|fourth ventricle proper|rhombencephalic ventricle|4th ventricle|ventricle of hindbrain http://purl.obolibrary.org/obo/UBERON_0002422 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0002425 biolink:AnatomicalEntity visceral serous pericardium Visceral serous membrane which is continuous with the parietal serous pericardium and is attached to the myocardium[FMA]. EMAPA:19032|FMA:84882|Wikipedia:Visceral_pericardium|EMAPA:16589|SCTID:243955001|MA:0000484|VHOG:0000538 hp.json visceral pericardium|visceral layer of serous pericardium|epicardium|visceral lamina of serous pericardium|pericardium visceral mesothelium|serous visceral pericardium|lamina visceralis pericardii serosi|lamina visceralis pericardii serosi http://purl.obolibrary.org/obo/UBERON_0002425 pheno_slim|uberon_slim UBERON:0002424 biolink:AnatomicalEntity oral epithelium An epithelium that is part of the mouth and lines the oral cavity, typically stratified squamous, and may be para-, ortho- or non- keratinized. Primary barrier between oral environment and deeper tissues. EMAPA:16839|CALOHA:TS-0715|UMLS:C1709332|ZFA:0000816|EHDAA:2187|BTO:0001775|TAO:0000816|NCIT:C49595|EMAPA:26942|VHOG:0000187|FMA:265152|MA:0000344|XAO:0003201|EHDAA2:0001325|AAO:0010357 hp.json epithelium of oral mucosa|epithelium of mucosa of mouth http://purl.obolibrary.org/obo/UBERON_0002424 vertebrate_core UBERON:0002421 biolink:AnatomicalEntity hippocampal formation Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. DHBA:10294|EMAPA:35405|HBA:4249|BAMS:Hi|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=177|UMLS:C0175202|BAMS:HiF|BM:Tel-HF|MBA:1089|BIRNLEX:715|MA:0000189|BTO:0000601|PBA:4003|BAMS:HPF|FMA:74038 hp.json major hippocampus|formatio hippocampi|seahorse|primal cortex|hippocampus|archipallium|hippocampus (Crosby) http://purl.obolibrary.org/obo/UBERON_0002421 pheno_slim|uberon_slim CL:0002043 biolink:Cell CD34-positive, CD38-negative multipotent progenitor cell A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. hp.json http://purl.obolibrary.org/obo/CL_0002043 UBERON:0002420 biolink:AnatomicalEntity basal ganglion An individual member of a collection of basal ganglia. Basal ganglia are subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF,modified]. BTO:0000235|CALOHA:TS-1149|EFO:0000904|FMA:62514|DHBA:10332 hp.json basal nucleus|basal ganglia|nuclei basales|basal ganglion of telencephalon http://purl.obolibrary.org/obo/UBERON_0002420 efo_slim|uberon_slim|pheno_slim UBERON:0002409 biolink:AnatomicalEntity pericardial fluid Transudate contained in the pericardial cavity.[FMA]. FMA:9887|MESH:D000069236|MA:0002530|BTO:0001016|Wikipedia:Pericardial_fluid hp.json http://purl.obolibrary.org/obo/UBERON_0002409 uberon_slim UBERON:0002408 biolink:AnatomicalEntity parietal serous pericardium Parietal serous membrane which is part of the pericardium and forms the outer layer of the pericardial sac. SCTID:243956000|Wikipedia:Parietal_pericardium|EHDAA:3422|VHOG:0000537|MA:0000483|FMA:9870|EHDAA:5378|EMAPA:19031|UMLS:C0225969|NCIT:C94500 hp.json parietal pericardium|parietal layer of serous pericardium|pericardial sac|pericardial sac|lamina parietalis pericardii|lamina parietalis (pericardii serosum) http://purl.obolibrary.org/obo/UBERON_0002408 pheno_slim|uberon_slim HP:0033790 biolink:PhenotypicFeature Thistle tube shaped pulp A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations. hp.json Flame-shaped pulp http://purl.obolibrary.org/obo/HP_0033790 UBERON:0002405 biolink:AnatomicalEntity immune system Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies. TAO:0001159|SCTID:362590003|Wikipedia:Immune_system|MESH:D007107|UMLS:C0020962|AAO:0011003|OpenCyc:Mx4rvWNkm5wpEbGdrcN5Y29ycA|XAO:0003152|BILA:0000104|BTO:0005810|VHOG:0001247|GAID:328|FMA:9825|NCIT:C12735|ZFA:0001159|MA:0002711 hp.json http://purl.obolibrary.org/obo/UBERON_0002405 pheno_slim|uberon_slim|vertebrate_core UBERON:0002407 biolink:AnatomicalEntity pericardium The combination of pericardial sac (a double-walled sac containing the heart and the roots of the great vessels) plus fibrous pericardium. BSA:0000090|EMAPA:16133|NCIT:C13005|EFO:0000820|MA:0000099|ZFA:0000054|MAT:0000454|VHOG:0001280|MESH:D010496|OpenCyc:Mx4rvoCLgJwpEbGdrcN5Y29ycA|EV:0100023|TAO:0000054|galen:Pericardium|EHDAA:5376|UMLS:C0031050|SCTID:181295003|AAO:0010817|XAO:0004182|GAID:569|FMA:9869|Wikipedia:Pericardium|CALOHA:TS-0761|BTO:0000717|RETIRED_EHDAA2:0001443 hp.json http://purl.obolibrary.org/obo/UBERON_0002407 vertebrate_core|pheno_slim|efo_slim|uberon_slim UBERON:0002406 biolink:AnatomicalEntity pericardial sac A double-walled sac containing the heart and the roots of the great vessels. SCTID:361326002|TAO:0000054|FMA:9868|RETIRED_EHDAA2:0001443 hp.json pericardium http://purl.obolibrary.org/obo/UBERON_0002406 vertebrate_core|uberon_slim HP:0031133 biolink:PhenotypicFeature Increased annexin V binding to platelet phosphatidylserine Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031133 HP:0033796 biolink:PhenotypicFeature Abnormal leukocyte physiology A functional abnormality of a white blood cell. hp.json http://purl.obolibrary.org/obo/HP_0033796 HP:0033795 biolink:PhenotypicFeature Growth without growth hormone hp.json http://purl.obolibrary.org/obo/HP_0033795 HP:0031134 biolink:PhenotypicFeature Cor triatrium sinister A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum. hp.json http://purl.obolibrary.org/obo/HP_0031134 HP:0031135 biolink:PhenotypicFeature Triggered by physical trauma Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue). hp.json Physical trauma triggered symptoms http://purl.obolibrary.org/obo/HP_0031135 HP:0033798 biolink:PhenotypicFeature Impaired leukocyte adhesion During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation. hp.json http://purl.obolibrary.org/obo/HP_0033798 HP:0031136 biolink:PhenotypicFeature Decreased acrosin in sperm head A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process. hp.json http://purl.obolibrary.org/obo/HP_0031136 HP:0033797 biolink:PhenotypicFeature Leukocyte migration defect Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization. hp.json Abnormal leukocyte migration|Defects of leukocyte migration http://purl.obolibrary.org/obo/HP_0033797 HP:0033792 biolink:PhenotypicFeature Cross bite Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth. hp.json http://purl.obolibrary.org/obo/HP_0033792 HP:0033791 biolink:PhenotypicFeature Tooth ankylosis Fusion of a tooth with alveolar bone. hp.json http://purl.obolibrary.org/obo/HP_0033791 HP:0031130 biolink:PhenotypicFeature Impaired calcium ionophore-induced platelet aggregation Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore. hp.json Impaired Ca ionophore-induced platelet aggregation|Impaired Ca2+ ionophore-induced platelet aggregation http://purl.obolibrary.org/obo/HP_0031130 HP:0033794 biolink:PhenotypicFeature Acral overgrowth Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement. hp.json Acromegalic growth|Acral enlargement|Acromegaly|Acral hypertrophy http://purl.obolibrary.org/obo/HP_0033794 HP:0031131 biolink:PhenotypicFeature Abnormal platelet phosphatidylserine exposure An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement. hp.json http://purl.obolibrary.org/obo/HP_0031131 HP:0031132 biolink:PhenotypicFeature Impaired annexin V binding to platelet phosphatidylserine Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031132 HP:0033793 biolink:PhenotypicFeature Triggered by food ingestion Applies to a sign or symptom that is provoked or brought about by eating a certain food. hp.json http://purl.obolibrary.org/obo/HP_0033793 HP:0031137 biolink:PhenotypicFeature Storage in hepatocytes Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. hp.json http://purl.obolibrary.org/obo/HP_0031137 HP:0033799 biolink:PhenotypicFeature Abnormal circulating sex hormone concentration Any deviation from the normal concentration of a sex hormone in the blood circulation hp.json Abnormal circulating gonadocorticoid concentration|Abnormal circulating sex steroid concentration|Abnormal circulating gonadal steroid concentration http://purl.obolibrary.org/obo/HP_0033799 HP:0031138 biolink:PhenotypicFeature Abnormal B-type natriuretic peptide level A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). hp.json http://purl.obolibrary.org/obo/HP_0031138 HP:0031139 biolink:PhenotypicFeature Frog-leg posture A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. hp.json http://purl.obolibrary.org/obo/HP_0031139 UBERON:0002412 biolink:AnatomicalEntity vertebra The ossified form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. TAO:0001189|UMLS:C0549207|MA:0000309|EMAPA:32740|FMA:9914|AAO:0000691|XAO:0004019|EFO:0001371|OpenCyc:Mx4rvt2Dh5wpEbGdrcN5Y29ycA|NCIT:C12933|ZFA:0001189|galen:Vertebra|CALOHA:TS-2352 hp.json vertebra bone|vertebrae http://purl.obolibrary.org/obo/UBERON_0002412 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0002411 biolink:AnatomicalEntity clitoris The small, erectile body located at the anterior end of the vulva. EHDAA2:0000255|FMA:9909|MA:0000382|VHOG:0000700|EMAPA:30819|NCIT:C12308|galen:Clitoris|UMLS:C0008984|BTO:0002020|OpenCyc:Mx4rvVjr6ZwpEbGdrcN5Y29ycA|MESH:D002987|EHDAA:9360|GAID:385 hp.json http://purl.obolibrary.org/obo/UBERON_0002411 pheno_slim|uberon_slim|organ_slim UBERON:0002414 biolink:AnatomicalEntity lumbar vertebra Large vertebra of the movable part of the vertebral column, characterized by the absence of the foramen transversarium within the transverse process, and by the absence of facets on the sides of the body. galen:LumbarVertebra|GAID:240|UMLS:C0024091|MESH:D008159|EMAPA:18007|FMA:9921|MA:0000312|CALOHA:TS-2364|NCIT:C12744|OpenCyc:Mx4rvaOek5wpEbGdrcN5Y29ycA hp.json http://purl.obolibrary.org/obo/UBERON_0002414 pheno_slim|uberon_slim CHEBI:23229 biolink:ChemicalSubstance chromanol Any member of the class of chromanes that is chromane substituted by one or more hydroxy groups. hp.json http://purl.obolibrary.org/obo/CHEBI_23229 3_STAR UBERON:0002413 biolink:AnatomicalEntity cervical vertebra A vertebra that is located in the cervical region of the vertebral column. XAO:0003076|MESH:D002574|galen:CervicalVertebra|NCIT:C12693|FMA:9915|GAID:235|EMAPA:17674|MA:0000311 hp.json cervical vertebrae|vertebrae cervicales http://purl.obolibrary.org/obo/UBERON_0002413 pheno_slim|uberon_slim PR:Q15465 biolink:Protein sonic hedgehog protein (human) A sonic hedgehog protein that is encoded in the genome of human. UniProtKB:Q15465 hp.json SHH|hSHH|Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains (human)|HHG-1 (human)|ShhNC (human) http://purl.obolibrary.org/obo/PR_Q15465 UBERON:0002410 biolink:AnatomicalEntity autonomic nervous system The autonomic nervous system is composed of neurons that are not under conscious control, and is comprised of two antagonistic components, the sympathetic and parasympathetic nervous systems. The autonomic nervous system regulates key functions including the activity of the cardiac (heart) muscle, smooth muscles (e.g. of the gut), and glands[GO]. UMLS:C0004388|TAO:0001574|NCIT:C12673|GAID:706|Wikipedia:Autonomic_nervous_system|MESH:D001341|AAO:0000033|MA:0000219|FMA:65553|EHDA:10095|VHOG:0000396|EMAPA:16984|UMLS:C0004388|UMLS:C1305381|BIRNLEX:1123|EHDAA:3767|SCTID:362481007|BTO:0002507|CALOHA:TS-2001|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2054|ZFA:0001574|EHDAA2:0000158 hp.json divisio autonomica systematis nervosi peripherici|autonomic part of peripheral nervous system|divisio autonomica systematis nervosi peripherici|peripheral autonomic nervous system|visceral nervous system|ANS|pars autonomica systematis nervosi peripherici|divisio autonomica systematis nervosi peripherici|autonomic division of peripheral nervous system http://purl.obolibrary.org/obo/UBERON_0002410 pheno_slim|uberon_slim|vertebrate_core PATO:0000642 biolink:NamedThing fused with A structural quality inhering in a bearer by virtue of the bearer's being merged with another entity. hp.json merged with|fused|fused to|joined with|coalesced http://purl.obolibrary.org/obo/PATO_0000642 mpath_slim|relational_slim|value_slim PATO:0000644 biolink:NamedThing hyperplastic A increased size quality inhering in an organ or tissue by virtue of the bearer's exhibiting increased number of cells. hp.json overdeveloped|hyperplasia http://purl.obolibrary.org/obo/PATO_0000644 mpath_slim|value_slim HP:0033721 biolink:PhenotypicFeature EEG with centrotemporal epileptiform discharges Focal epileptiform EEG discharges recorded in the centrotemporal region. hp.json http://purl.obolibrary.org/obo/HP_0033721 PATO:0000643 biolink:NamedThing herniated A quality inhering in a bearer by virtue of the bearer's bodily structure that has protruded through an abnormal opening in the wall that contains it. hp.json http://purl.obolibrary.org/obo/PATO_0000643 mpath_slim|value_slim HP:0033720 biolink:PhenotypicFeature EEG with occipital epileptiform discharges Focal epileptiform EEG discharges recorded in the occipital region. hp.json http://purl.obolibrary.org/obo/HP_0033720 PATO:0000646 biolink:NamedThing malformed A morphological quality inhering in a bearer by virtue of the bearer's being distorted during formation. hp.json malformation http://purl.obolibrary.org/obo/PATO_0000646 mpath_slim|value_slim PATO:0000645 biolink:NamedThing hypoplastic A decreased size quality inhering in a bearer by virtue of the bearer's exhibiting reduced number of cells within an organ or tissue. hp.json hypoplasia|underdeveloped http://purl.obolibrary.org/obo/PATO_0000645 mpath_slim|value_slim PATO:0000648 biolink:NamedThing obstructed A morphological quality inhering in a bearer by virtue of the bearer's being blocked or filled with obstacles or an obstacle. hp.json http://purl.obolibrary.org/obo/PATO_0000648 mpath_slim|value_slim PATO:0000647 biolink:NamedThing necrotic A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death. hp.json http://purl.obolibrary.org/obo/PATO_0000647 mpath_slim|value_slim HP:0033727 biolink:PhenotypicFeature Diffuse lupus nephritis A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. hp.json Class IV lupus nephritis http://purl.obolibrary.org/obo/HP_0033727 HP:0033726 biolink:PhenotypicFeature Lupus nephritis Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. hp.json http://purl.obolibrary.org/obo/HP_0033726 GO:0010482 biolink:BiologicalProcess regulation of epidermal cell division Any process that modulates the frequency, rate or extent of the physical partitioning and separation of an epidermal cell into daughter cells. An epidermal cell is any of the cells that make up the epidermis. hp.json regulation of hypodermal cell division http://purl.obolibrary.org/obo/GO_0010482 HP:0033729 biolink:PhenotypicFeature Minimal mesangial lupus nephritis A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence. hp.json Class I lupus nephritis http://purl.obolibrary.org/obo/HP_0033729 HP:0033728 biolink:PhenotypicFeature Mesangial proliferative lupus nephritis A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy. hp.json Class II lupus nephritis http://purl.obolibrary.org/obo/HP_0033728 HP:0008756 biolink:PhenotypicFeature Bowing of the vocal cords Bowing (abnormal curvature) of the vocal folds. UMLS:C0396064|SNOMEDCT_US:232448002 hp.json http://purl.obolibrary.org/obo/HP_0008756 HP:0033723 biolink:PhenotypicFeature Abnormal cerebral venous sinus morphology Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins. hp.json Abnormal dural venous sinus morphology|Abnormality of the cerebral venous sinuses http://purl.obolibrary.org/obo/HP_0033723 CHEBI:62803 biolink:ChemicalSubstance fuel additive Any additive that enhances the efficiency of fuel. hp.json fuel enhancer|fuel additives http://purl.obolibrary.org/obo/CHEBI_62803 3_STAR HP:0033722 biolink:PhenotypicFeature Autonomic epileptic aura An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region. hp.json Autonomic aura|Autonomic auras|Vegetative aura http://purl.obolibrary.org/obo/HP_0033722 HP:0008755 biolink:PhenotypicFeature Laryngotracheomalacia SNOMEDCT_US:308232009|UMLS:C0585984 hp.json http://purl.obolibrary.org/obo/HP_0008755 HP:0033725 biolink:PhenotypicFeature Thin corpus callosum An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). hp.json Thinning of the corpus callosum|Small corpus callosum http://purl.obolibrary.org/obo/HP_0033725 PATO:0000640 biolink:NamedThing dysplastic A structural quality inhering in a bearer by virtue of the bearer's exhibiting an alteration in size, shape or organization of its constituent cells. hp.json dysplasia http://purl.obolibrary.org/obo/PATO_0000640 value_slim|mpath_slim HP:0008757 biolink:PhenotypicFeature Unilateral vocal cord paralysis A loss of the ability to move the vocal fold on one side. MSH:D014826|UMLS:C0751575 hp.json Unilateral paralysis of the vocal cord http://purl.obolibrary.org/obo/HP_0008757 HP:0033724 biolink:PhenotypicFeature Cerebral venous sinus thrombosis An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses. hp.json http://purl.obolibrary.org/obo/HP_0033724 HP:0008752 biolink:PhenotypicFeature Laryngeal cartilage malformation A malformation of the laryngeal cartilage. UMLS:C4021530 hp.json Vocal impairment, severe, due to laryngeal cartilage abnormalities http://purl.obolibrary.org/obo/HP_0008752 HP:0008751 biolink:PhenotypicFeature Laryngeal cleft Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus. SNOMEDCT_US:232461002|UMLS:C1840311|MSH:C537875 hp.json Laryngotracheal cleft|Laryngotracheoesophageal cleft i http://purl.obolibrary.org/obo/HP_0008751 HP:0008754 biolink:PhenotypicFeature Laryngeal calcification Calcification (abnormal deposits of calcium) in the laryngeal tissues. UMLS:C1859158 hp.json Laryngeal calcifications http://purl.obolibrary.org/obo/HP_0008754 HP:0008753 biolink:PhenotypicFeature Aplasia of the epiglottis Absence of the epiglottis. UMLS:C4024628 hp.json Absent epiglottis http://purl.obolibrary.org/obo/HP_0008753 GO:0010481 biolink:BiologicalProcess epidermal cell division Any process resulting in the physical partitioning and separation of an epidermal cell, any of the cells making up the epidermis, into daughter cells. hp.json hypodermal cell division http://purl.obolibrary.org/obo/GO_0010481 HP:0008750 biolink:PhenotypicFeature Laryngeal atresia Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present. UMLS:C0265756|SNOMEDCT_US:64981002 hp.json http://purl.obolibrary.org/obo/HP_0008750 HP:0033730 biolink:PhenotypicFeature Membranous lupus nephritis A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis hp.json Class V lupus nephritis http://purl.obolibrary.org/obo/HP_0033730 HP:0033732 biolink:PhenotypicFeature Advanced sclerotic lupus nephritis A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity. hp.json Class VI lupus nephritis http://purl.obolibrary.org/obo/HP_0033732 HP:0033731 biolink:PhenotypicFeature Focal lupus nephritis A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations hp.json Class III lupus nephritis http://purl.obolibrary.org/obo/HP_0033731 HP:0006108 biolink:PhenotypicFeature Tapered metacarpals Metacarpal that becomes thinner toward the distal end. UMLS:C4025091 hp.json Tapered long bones of hand http://purl.obolibrary.org/obo/HP_0006108 HP:0033738 biolink:PhenotypicFeature Primary vesicoureteral reflux Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction. hp.json http://purl.obolibrary.org/obo/HP_0033738 GO:0010496 biolink:BiologicalProcess intercellular transport The movement of substances between cells. hp.json single organism intercellular transport|single-organism intercellular transport http://purl.obolibrary.org/obo/GO_0010496 HP:0006109 biolink:PhenotypicFeature Absent phalangeal crease Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). UMLS:C4020821|UMLS:C1862479 hp.json Aplasia of the interphalangeal creases|Absent interphalangeal creases http://purl.obolibrary.org/obo/HP_0006109 HP:0033737 biolink:PhenotypicFeature Grade III vesicoureteral reflux Vesicoureteral reflux with dilatation of the collecting system. hp.json Grade III VUR|VUR III http://purl.obolibrary.org/obo/HP_0033737 HP:0033739 biolink:PhenotypicFeature Secondary vesicoureteral reflux Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction. hp.json http://purl.obolibrary.org/obo/HP_0033739 HP:0033734 biolink:PhenotypicFeature High-grade vesicoureteral reflux Vesicoureteral reflux with dilation of the renal calyces (Grade III - V). hp.json http://purl.obolibrary.org/obo/HP_0033734 HP:0008767 biolink:PhenotypicFeature Self-mutilation of tongue and lips due to involuntary movements UMLS:C1860219 hp.json Self-mutilation of tongue and lips due to involuntary movements http://purl.obolibrary.org/obo/HP_0008767 HP:0033733 biolink:PhenotypicFeature Low-grade vesicoureteral reflux Vesicoureteral reflux without dilation of the renal calyces (Grade I-II). hp.json http://purl.obolibrary.org/obo/HP_0033733 PATO:0000651 biolink:NamedThing unfused from A structural quality inhering in a bearer by virtue of the bearer's being no longer merged with another entity. hp.json unfused http://purl.obolibrary.org/obo/PATO_0000651 relational_slim|value_slim HP:0033736 biolink:PhenotypicFeature Grade II vesicoureteral reflux Vesicoureteral reflux into a non-dilated pyelocalyceal system. hp.json VUR II|Grade II VUR http://purl.obolibrary.org/obo/HP_0033736 HP:0006106 biolink:PhenotypicFeature Absent trapezoid bone UMLS:C1847191 hp.json http://purl.obolibrary.org/obo/HP_0006106 HP:0033735 biolink:PhenotypicFeature Grade I vesicoureteral reflux Vesicoureteral reflux into the ureter only. hp.json Grade I VUR|VUR I http://purl.obolibrary.org/obo/HP_0033735 HP:0008768 biolink:PhenotypicFeature Inappropriate sexual behavior UMLS:C0474420|SNOMEDCT_US:248099006 hp.json Inappropriate sexual behaviour|Inappropriate sexual behavior http://purl.obolibrary.org/obo/HP_0008768 HP:0006107 biolink:PhenotypicFeature Fingerpad telangiectases Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. UMLS:C1861248 hp.json Small dilated blood vessels in fingerpads|Finger pad telangiectases http://purl.obolibrary.org/obo/HP_0006107 HP:0008763 biolink:PhenotypicFeature No social interaction UMLS:C1849683 hp.json No social interaction http://purl.obolibrary.org/obo/HP_0008763 HP:0006101 biolink:PhenotypicFeature Finger syndactyly Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". SNOMEDCT_US:34048007|SNOMEDCT_US:249769001|UMLS:C0221352|SNOMEDCT_US:268251006 hp.json Partial syndactyly http://purl.obolibrary.org/obo/HP_0006101 HP:0008762 biolink:PhenotypicFeature Repetitive compulsive behavior UMLS:C1969697 hp.json Repetitive compulsive behavior|Repetitive compulsive behaviour http://purl.obolibrary.org/obo/HP_0008762 HP:0008765 biolink:PhenotypicFeature Auditory hallucinations The false perception of sound. SNOMEDCT_US:45150006|MSH:D006212|UMLS:C0233762 hp.json Hearing sounds|Hallucinations of sound http://purl.obolibrary.org/obo/HP_0008765 HP:0008760 biolink:PhenotypicFeature Violent behavior UMLS:C0424323|SNOMEDCT_US:248004009 hp.json Violent behavior|Violent behaviour http://purl.obolibrary.org/obo/HP_0008760 PR:O09100 biolink:Protein endothelial transcription factor GATA-2 (mouse) An endothelial transcription factor GATA-2 that is encoded in the genome of mouse. UniProtKB:O09100 hp.json Gata2|mGATA2|GATA-binding protein 2 (mouse) http://purl.obolibrary.org/obo/PR_O09100 HP:0033741 biolink:PhenotypicFeature Grade IV vesicoureteral reflux Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter. hp.json VUR IV|Grade IV VUR http://purl.obolibrary.org/obo/HP_0033741 HP:0033740 biolink:PhenotypicFeature Grade V vesicoureteral reflux Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter. hp.json Grade V VUR|VUR V http://purl.obolibrary.org/obo/HP_0033740 GO:0010468 biolink:BiologicalProcess regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). Wikipedia:Regulation_of_gene_expression hp.json regulation of protein expression|regulation of gene product expression|gene regulation http://purl.obolibrary.org/obo/GO_0010468 HP:0033743 biolink:PhenotypicFeature Macular agenesis A congenital defect characterized by lack of development of the macula. hp.json http://purl.obolibrary.org/obo/HP_0033743 GO:0010469 biolink:BiologicalProcess regulation of signaling receptor activity Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. hp.json regulation of receptor activity|regulation of signalling receptor activity http://purl.obolibrary.org/obo/GO_0010469 HP:0033742 biolink:PhenotypicFeature Intrarenal reflux Severe vesicoureteral reflux reaching the kidney parenchyma. hp.json http://purl.obolibrary.org/obo/HP_0033742 PATO:0000665 biolink:NamedThing high brightness A color brightness which is relatively high. hp.json light http://purl.obolibrary.org/obo/PATO_0000665 value_slim HP:0033749 biolink:PhenotypicFeature Abnormal functional residual capacity A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation. hp.json http://purl.obolibrary.org/obo/HP_0033749 HP:0008738 biolink:PhenotypicFeature Partially duplicated kidney The presence of a partially duplicated kidney. UMLS:C4024630 hp.json Partially duplicated kidney http://purl.obolibrary.org/obo/HP_0008738 GO:0010463 biolink:BiologicalProcess mesenchymal cell proliferation The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. hp.json http://purl.obolibrary.org/obo/GO_0010463 HP:0033748 biolink:PhenotypicFeature Hypoesthesia Decreased ability to perceive touch. hp.json Numbness|Hypoaesthesia http://purl.obolibrary.org/obo/HP_0033748 HP:0008739 biolink:PhenotypicFeature Labial pseudohypertrophy UMLS:C1835380 hp.json http://purl.obolibrary.org/obo/HP_0008739 HP:0033745 biolink:PhenotypicFeature Dysplasia of the superior cerebellar vermis hp.json http://purl.obolibrary.org/obo/HP_0033745 GO:0034433 biolink:BiologicalProcess steroid esterification A lipid modification process in which a steroid ester is formed by the combination of a carboxylic acid (often a fatty acid) and a steroid molecule (e.g. cholesterol). hp.json http://purl.obolibrary.org/obo/GO_0034433 HP:0008734 biolink:PhenotypicFeature Decreased testicular size Reduced volume of the testicle (the male gonad). SNOMEDCT_US:276411001|UMLS:C0241355 hp.json Decreased testicular size|Testicular hypoplasia|Hypoplastic testes|Small testes|Small testis http://purl.obolibrary.org/obo/HP_0008734 HP:0033744 biolink:PhenotypicFeature Global cerebellar dysplasia hp.json http://purl.obolibrary.org/obo/HP_0033744 GO:0010467 biolink:BiologicalProcess gene expression The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes. Wikipedia:Gene_expression hp.json http://purl.obolibrary.org/obo/GO_0010467 goslim_flybase_ribbon HP:0008733 biolink:PhenotypicFeature Dysplastic testes UMLS:C1837380 hp.json http://purl.obolibrary.org/obo/HP_0008733 GO:0034434 biolink:BiologicalProcess sterol esterification A lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and a sterol molecule (e.g. cholesterol). hp.json http://purl.obolibrary.org/obo/GO_0034434 GO:0010464 biolink:BiologicalProcess regulation of mesenchymal cell proliferation Any process that modulates the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. hp.json http://purl.obolibrary.org/obo/GO_0010464 HP:0033747 biolink:PhenotypicFeature Abnormal exteroceptive sensation A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. hp.json http://purl.obolibrary.org/obo/HP_0033747 GO:0034435 biolink:BiologicalProcess cholesterol esterification A lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and cholesterol. In the blood this process is associated with the conversion of free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle. hp.json http://purl.obolibrary.org/obo/GO_0034435 HP:0008736 biolink:PhenotypicFeature Hypoplasia of penis SNOMEDCT_US:34911001|UMLS:C0266435 hp.json Underdeveloped penis http://purl.obolibrary.org/obo/HP_0008736 GO:0034436 biolink:BiologicalProcess glycoprotein transport The directed movement of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0034436 HP:0033746 biolink:PhenotypicFeature Intrascapular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades. hp.json Pain between shoulder blades http://purl.obolibrary.org/obo/HP_0033746 HP:0008730 biolink:PhenotypicFeature Female external genitalia in individual with 46,XY karyotype The presence of female external genitalia in a person with a male karyotype. UMLS:C1848178 hp.json Males with female external genitalia http://purl.obolibrary.org/obo/HP_0008730 HP:0008732 biolink:PhenotypicFeature Renal hypophosphatemia Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. UMLS:C4024631 hp.json http://purl.obolibrary.org/obo/HP_0008732 HP:0033752 biolink:PhenotypicFeature Abnormal residual volume Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs). hp.json http://purl.obolibrary.org/obo/HP_0033752 HP:0033751 biolink:PhenotypicFeature Elevated functional residual capacity An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation. hp.json http://purl.obolibrary.org/obo/HP_0033751 HP:0033754 biolink:PhenotypicFeature Abnormal left ventricular end-diastolic volume Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole). hp.json http://purl.obolibrary.org/obo/HP_0033754 HP:0033753 biolink:PhenotypicFeature Reduced residual volume Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation. hp.json http://purl.obolibrary.org/obo/HP_0033753 HP:0033750 biolink:PhenotypicFeature Reduced functional residual capacity An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation. hp.json http://purl.obolibrary.org/obo/HP_0033750 HP:0008749 biolink:PhenotypicFeature Laryngeal hypoplasia Underdevelopment of the larynx. SNOMEDCT_US:253736003|UMLS:C0431527 hp.json Hypoplastic larynx http://purl.obolibrary.org/obo/HP_0008749 HP:0033759 biolink:PhenotypicFeature Impaired renal tubular reabsorption of magnesium Decreased renal tubular reabsorption of magnesium. hp.json http://purl.obolibrary.org/obo/HP_0033759 HP:0033756 biolink:PhenotypicFeature Decreased left ventricular end-diastolic volume Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole). hp.json http://purl.obolibrary.org/obo/HP_0033756 HP:0033755 biolink:PhenotypicFeature Increased left ventricular end-diastolic volume Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). hp.json http://purl.obolibrary.org/obo/HP_0033755 HP:0008744 biolink:PhenotypicFeature Abnormal aryepiglottic fold morphology An abnormality of the aryepiglottic fold. UMLS:C1849357 hp.json Abnormal aryepiglottic folds|Abnormality of the aryepiglottic fold http://purl.obolibrary.org/obo/HP_0008744 HP:0033758 biolink:PhenotypicFeature Labial abscess A circumscribed area of pus or necrotic debris in the labia. hp.json Abscess of the labia http://purl.obolibrary.org/obo/HP_0033758 HP:0008747 biolink:PhenotypicFeature Cartilaginous ossification of larynx Ossification affecting the set of cartilages of larynx. UMLS:C1855622 hp.json http://purl.obolibrary.org/obo/HP_0008747 HP:0033757 biolink:PhenotypicFeature Pancreatic steatosis Fat infiltration in the pancreas. hp.json Non-alcoholic fatty pancreatic disease|Pancreatic lipomatosis|Pancreatic fatty replacement|Pancreatic lipomatous pseudohypertrophy|Pancreatic fatty infiltration|Fatty pancreas http://purl.obolibrary.org/obo/HP_0033757 HP:0008740 biolink:PhenotypicFeature Longitudinal vaginal septum The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. UMLS:C1841680 hp.json Vertical vaginal septum http://purl.obolibrary.org/obo/HP_0008740 HP:0008743 biolink:PhenotypicFeature Coronal hypospadias A mild form of hypospadias in which the urethra opens just under the corona glandis. UMLS:C4020787|SNOMEDCT_US:429641000124109|UMLS:C1394030 hp.json Subcoronal hypospadias http://purl.obolibrary.org/obo/HP_0008743 HP:0008742 biolink:PhenotypicFeature Prominent prostate median bar UMLS:C4024629 hp.json http://purl.obolibrary.org/obo/HP_0008742 GO:0010470 biolink:BiologicalProcess regulation of gastrulation Any process that modulates the rate or extent of gastrulation. Gastrulation is the complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. hp.json http://purl.obolibrary.org/obo/GO_0010470 OBO:MAXO_0001231 biolink:NamedThing carnitine measurement The determination of the amount of carnitine present in the sample. hp.json carnitine test|carnitine assessment http://purl.obolibrary.org/obo/MAXO_0001231 OBO:MAXO_0001230 biolink:NamedThing folic acid measurement The determination of the amount of folic acid present in the sample. hp.json folic acid test|folic acid assessment http://purl.obolibrary.org/obo/MAXO_0001230 PATO:0000608 biolink:NamedThing closed A morphological quality inhering in a bearer by virtue of the bearer's affording blocked passage or view. hp.json blocked http://purl.obolibrary.org/obo/PATO_0000608 value_slim OBO:MAXO_0001235 biolink:NamedThing pyridoxal 5'-phosphate measurement The determination of the amount of pyridoxal 5'-phosphate present in the sample. hp.json pyridoxal 5'-phosphate assessment|pyridoxal 5'-phosphate test http://purl.obolibrary.org/obo/MAXO_0001235 OBO:MAXO_0001234 biolink:NamedThing phosphocholine measurement The determination of the amount of phosphocholines present in the sample. hp.json phosphocholines test|phosphocholines assessment http://purl.obolibrary.org/obo/MAXO_0001234 PATO:0000609 biolink:NamedThing closure incomplete A morphological quality inhering in a bearer by virtue of the bearer's affording not completed blocked passage or view. hp.json http://purl.obolibrary.org/obo/PATO_0000609 value_slim OBO:MAXO_0001233 biolink:NamedThing glycerylphosphorylcholine measurement The determination of the amount of glycerylphosphorylcholine present in the sample. hp.json glycerylphosphorylcholine assessment|glycerylphosphorylcholine test http://purl.obolibrary.org/obo/MAXO_0001233 OBO:MAXO_0001232 biolink:NamedThing choline measurement The determination of the amount of choline present in the sample. hp.json choline test|choline assessment http://purl.obolibrary.org/obo/MAXO_0001232 CHEBI:132966 biolink:ChemicalSubstance hippurate An N-acylglycinate obtained by deprotonation of the carboxy group of hippuric acid (N-benzoylglycine) and its derivatives. hp.json N-benzoylglycine anions|N-benzoylglycinate|N-benzoylglycinates|N-benzoylglycine anion|hippurates http://purl.obolibrary.org/obo/CHEBI_132966 3_STAR PATO:0000600 biolink:NamedThing increased width A width which is relatively large. hp.json wide/broad|wide|broad http://purl.obolibrary.org/obo/PATO_0000600 value_slim CHEBI:59266 biolink:ChemicalSubstance amino trisaccharide An amino oligosaccharide that is a trisaccharide having one or more substituted or unsubstituted amino groups in place of hydroxy groups at unspecified positions. hp.json amino trisaccharides http://purl.obolibrary.org/obo/CHEBI_59266 3_STAR CHEBI:132961 biolink:ChemicalSubstance methylsuccinate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of 3-methylsuccinic acid. hp.json methylsuccinic acid anions|methylsuccinic acid anion|methylsuccinate anion|methylsuccinates|2-methylbutanedioic acid anion|2-methylbutanedioic acid anions http://purl.obolibrary.org/obo/CHEBI_132961 3_STAR HP:0008796 biolink:PhenotypicFeature Femoral retroversion An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing). UMLS:C1846339 hp.json Decreased femoral torsion|Externally rotated hips http://purl.obolibrary.org/obo/HP_0008796 OBO:MAXO_0001239 biolink:NamedThing vitamin B complex measurement The determination of the amount of vitamin B complex present in the sample. hp.json vitamin B complex test|vitamin B complex assessment http://purl.obolibrary.org/obo/MAXO_0001239 OBO:MAXO_0001238 biolink:NamedThing vitamin B measurement The determination of the amount of B vitamin present in the sample. hp.json B vitamin test|B vitamin assessment http://purl.obolibrary.org/obo/MAXO_0001238 HP:0006134 biolink:PhenotypicFeature Enlarged metacarpal epiphyses Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges). UMLS:C1865035 hp.json Enlarged end part of long bone of hand http://purl.obolibrary.org/obo/HP_0006134 HP:0008798 biolink:PhenotypicFeature Widened greater sciatic notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch. UMLS:C4024620 hp.json Widening of the sacrosciatic notch|Widened sacrosciatic notch http://purl.obolibrary.org/obo/HP_0008798 OBO:MAXO_0001237 biolink:NamedThing vitamin A measurement The determination of the amount of vitamin A present in the sample. hp.json vitamin A test|vitamin A assessment http://purl.obolibrary.org/obo/MAXO_0001237 HP:0006135 biolink:PhenotypicFeature Decreased finger mobility UMLS:C1862133 hp.json Decreased finger mobility|Decreased finger movement http://purl.obolibrary.org/obo/HP_0006135 HP:0008797 biolink:PhenotypicFeature Early ossification of capital femoral epiphyses Developmental acceleration of ossification of the proximal epiphysis of the femur. UMLS:C4024621 hp.json http://purl.obolibrary.org/obo/HP_0008797 OBO:MAXO_0001236 biolink:NamedThing chemical measurement The determination of the amount of chemical entity present in the sample. hp.json chemical entity test|chemical entity assessment http://purl.obolibrary.org/obo/MAXO_0001236 HP:0006136 biolink:PhenotypicFeature Bilateral postaxial polydactyly UMLS:C1855003 hp.json http://purl.obolibrary.org/obo/HP_0006136 HP:0008794 biolink:PhenotypicFeature Dysplastic iliac wing A general term that describes a congenital defect in the iliac wing resulting from abnormal development. UMLS:C1837487 hp.json Dysplastic iliac wings http://purl.obolibrary.org/obo/HP_0008794 PATO:0000617 biolink:NamedThing bent A shape quality inhering in a bearer by virtue of the bearer's having one or more angle(s) in its length. hp.json flexed|angled http://purl.obolibrary.org/obo/PATO_0000617 value_slim PATO:0000616 biolink:NamedThing asymmetrical A symmetry quality inhering in a bearer by virtue of the bearer's lacking symmetry. hp.json asymmetric|asymmetry http://purl.obolibrary.org/obo/PATO_0000616 value_slim|mpath_slim|cell_quality PATO:0000619 biolink:NamedThing crowded A positional quality inhering in a bearer by virtue of the bearer's being overfilled. hp.json http://purl.obolibrary.org/obo/PATO_0000619 value_slim PATO:0000618 biolink:NamedThing bilateral A positional quality inhering in a bearer by virtue of the bearer's having two sides; two-sided. hp.json http://purl.obolibrary.org/obo/PATO_0000618 value_slim|mpath_slim HP:0006150 biolink:PhenotypicFeature Swan neck-like deformities of the fingers A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. UMLS:C1849152 hp.json http://purl.obolibrary.org/obo/HP_0006150 OBO:MAXO_0001222 biolink:NamedThing serum alpha-fetoprotein measurement The determination of the amount of alpha-fetoprotein present in blood serum. hp.json blood serum alpha-fetoprotein (human) test|alpha-fetoprotein (human) blood serum assessment|serum alpha-fetoprotein test|alpha-fetoprotein serum measurement http://purl.obolibrary.org/obo/MAXO_0001222 PATO:0000610 biolink:NamedThing open A morphological quality inhering in a bearer by virtue of the bearer's affording unobstructed passage or view. hp.json http://purl.obolibrary.org/obo/PATO_0000610 value_slim PATO:0000614 biolink:NamedThing oriented A pattern where all the repeated elements are oriented in the same direction. hp.json http://purl.obolibrary.org/obo/PATO_0000614 value_slim CHEBI:132970 biolink:ChemicalSubstance 5-ammoniolevulinic acid A primary ammonium ion obtained by protonation of the amino group of 5-aminolevulinic acid. hp.json 5-aminolevulinic acid(1+)|5-aminolevulinic acid cation|4-carboxy-2-oxobutan-1-aminium http://purl.obolibrary.org/obo/CHEBI_132970 3_STAR GO:0010455 biolink:BiologicalProcess positive regulation of cell fate commitment Any process that activates, maintains or increases the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. hp.json http://purl.obolibrary.org/obo/GO_0010455 CHEBI:59252 biolink:ChemicalSubstance linear tetrapyrrole anion An organic anion arising from deprotonation of a acyclic tetrapyrrole compound. hp.json linear tetrapyrrole anions|acyclic tetrapyrrole anion|acyclic tetrapyrrole anions http://purl.obolibrary.org/obo/CHEBI_59252 3_STAR HP:0006149 biolink:PhenotypicFeature Increased laxity of fingers UMLS:C1850855 hp.json http://purl.obolibrary.org/obo/HP_0006149 GO:0010453 biolink:BiologicalProcess regulation of cell fate commitment Any process that modulates the frequency, rate or extent of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. hp.json http://purl.obolibrary.org/obo/GO_0010453 GO:0010454 biolink:BiologicalProcess negative regulation of cell fate commitment Any process that stops, prevents or reduces the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. hp.json http://purl.obolibrary.org/obo/GO_0010454 HP:0006144 biolink:PhenotypicFeature Shortening of all proximal phalanges of the fingers Congenital hypoplasia of proximal phalanx of finger or all fingers. UMLS:C4025089 hp.json Shortening of all innermost bones of the fingers http://purl.obolibrary.org/obo/HP_0006144 OBO:MAXO_0001228 biolink:NamedThing creatine measurement The determination of the amount of creatine present in the sample. hp.json creatine assessment|creatine test http://purl.obolibrary.org/obo/MAXO_0001228 OBO:MAXO_0001227 biolink:NamedThing beta carotene measurement The determination of the amount of beta-caroteneβ-carotene present in the sample. hp.json beta-caroteneβ-carotene test|beta-caroteneβ-carotene assessment|beta-carotene test|beta carotene assessment|beta-carotene measurement|b-carotene measurement http://purl.obolibrary.org/obo/MAXO_0001227 HP:0006145 biolink:PhenotypicFeature Central Y-shaped metacarpal A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. UMLS:C1848597 hp.json Y-shaped central long bones of hand http://purl.obolibrary.org/obo/HP_0006145 HP:0006146 biolink:PhenotypicFeature Broad metacarpal epiphyses Increased side-to-side width of the metacarpal epiphyses. UMLS:C4025088 hp.json Broad end part of long bone of hand http://purl.obolibrary.org/obo/HP_0006146 HP:0006147 biolink:PhenotypicFeature Progressive fusion 2nd-5th pip joints UMLS:C1861310 hp.json http://purl.obolibrary.org/obo/HP_0006147 HP:0006140 biolink:PhenotypicFeature Premature fusion of phalangeal epiphyses Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. UMLS:C1855620 hp.json Premature fusion of end part of digital bone http://purl.obolibrary.org/obo/HP_0006140 HP:0006143 biolink:PhenotypicFeature Abnormal finger flexion creases UMLS:C1859481 hp.json http://purl.obolibrary.org/obo/HP_0006143 OBO:MAXO_0001229 biolink:NamedThing phosphocreatine measurement The determination of the amount of N-phosphocreatine present in the sample. hp.json N-phosphocreatine test|N-phosphocreatine assessment http://purl.obolibrary.org/obo/MAXO_0001229 OBO:MAXO_0001253 biolink:NamedThing pelvic radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of pelvic region of trunk. hp.json radiography of pelvic region of trunk|pelvic radiogram procedure|radiograph of pelvic region of trunk|pelvis radiograph|pelvic region of trunk X-ray procedure|X-ray of the pelvis|radiograph of pelvis|pelvic region of trunk radiogram procedure http://purl.obolibrary.org/obo/MAXO_0001253 PATO:0000628 biolink:NamedThing mislocalised A positional quality inhering in a bearer by virtue the bearer's being changed in abnormal position. hp.json mislocalized|ectopic http://purl.obolibrary.org/obo/PATO_0000628 disposition_slim|value_slim OBO:MAXO_0001252 biolink:NamedThing folate measurement The determination of the amount of folates present in the sample. hp.json folates assessment|folates test http://purl.obolibrary.org/obo/MAXO_0001252 PATO:0000627 biolink:NamedThing localized A spatial pattern quality inhering in a bearer by virtue of the bearer's being confined or restricted to a particular location. hp.json focal|localised http://purl.obolibrary.org/obo/PATO_0000627 value_slim|mpath_slim|hpo_slim OBO:MAXO_0001251 biolink:NamedThing vitamin K measurement The determination of the amount of vitamin K present in the sample. hp.json vitamin K assessment|vitamin K test http://purl.obolibrary.org/obo/MAXO_0001251 OBO:MAXO_0001250 biolink:NamedThing vitamin E measurement The determination of the amount of vitamin E present in the sample. hp.json vitamin E assessment|vitamin E test http://purl.obolibrary.org/obo/MAXO_0001250 GO:0022411 biolink:BiologicalProcess cellular component disassembly A cellular process that results in the breakdown of a cellular component. hp.json cellular component disassembly at cellular level|cell structure disassembly http://purl.obolibrary.org/obo/GO_0022411 goslim_pir GO:0022410 biolink:BiologicalProcess circadian sleep/wake cycle process A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. hp.json http://purl.obolibrary.org/obo/GO_0022410 OBO:MAXO_0001254 biolink:NamedThing skull radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of skull. hp.json radiograph of skull|X-ray of the skull|radiography of skull|skull X-ray procedure|skull radiogram procedure http://purl.obolibrary.org/obo/MAXO_0001254 GO:0022412 biolink:BiologicalProcess cellular process involved in reproduction in multicellular organism A process, occurring at the cellular level, that is involved in the reproductive function of a multicellular organism. hp.json reproductive cellular process in multicellular organism http://purl.obolibrary.org/obo/GO_0022412 CHEBI:132943 biolink:ChemicalSubstance aspartate hp.json http://purl.obolibrary.org/obo/CHEBI_132943 1_STAR PATO:0000623 biolink:NamedThing exserted A quality inhering in a bearer by virtue of the bearer's protruding or projecting from the body. hp.json prolapsed|prolapse http://purl.obolibrary.org/obo/PATO_0000623 value_slim PATO:0000625 biolink:NamedThing inverted An oriented quality inhering in a bearer by virtue of the bearer's being reversed in position, order, or condition. hp.json backward|reversed http://purl.obolibrary.org/obo/PATO_0000625 value_slim|mpath_slim HP:0033705 biolink:PhenotypicFeature Tearfulness A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control. hp.json http://purl.obolibrary.org/obo/HP_0033705 HP:0006119 biolink:PhenotypicFeature Proximal tapering of metacarpals Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. UMLS:C1854749 hp.json Pointed innermost long bone of hand|Pointed proximal metacarpals http://purl.obolibrary.org/obo/HP_0006119 hposlim_core HP:0033704 biolink:PhenotypicFeature Elevated urinary homogentisic acid An increased amount of homogentisic acid in the urine. hp.json http://purl.obolibrary.org/obo/HP_0033704 HP:0033707 biolink:PhenotypicFeature Perioral hyperkeratosis Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth. hp.json http://purl.obolibrary.org/obo/HP_0033707 HP:0033706 biolink:PhenotypicFeature Progressive massive fibrosis This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. hp.json http://purl.obolibrary.org/obo/HP_0033706 HP:0033701 biolink:PhenotypicFeature Cortical sclerosis of the iliac wing Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing. hp.json http://purl.obolibrary.org/obo/HP_0033701 CHEBI:62868 biolink:ChemicalSubstance hepatoprotective agent Any compound that is able to prevent damage to the liver. hp.json antihepatotoxic agent|hepatoprotective agents|hepatoprotector http://purl.obolibrary.org/obo/CHEBI_62868 3_STAR HP:0008777 biolink:PhenotypicFeature Abnormal vocal cord morphology An abnormality of the vocal cord. UMLS:C0262665 hp.json Abnormality of the vocal cords http://purl.obolibrary.org/obo/HP_0008777 HP:0033700 biolink:PhenotypicFeature Papulovesicular eruption An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point. hp.json Papulo-vesicular eruption http://purl.obolibrary.org/obo/HP_0033700 HP:0033703 biolink:PhenotypicFeature Dysembryoplastic neuroepithelial tumor Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found hp.json DNT|DNET http://purl.obolibrary.org/obo/HP_0033703 CHEBI:132941 biolink:ChemicalSubstance 2-hydroxyglutarate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of 2-hydroxyglutaric acid. hp.json 2-hydroxyglutaric acid anion|2-hydroxyglutarate anion http://purl.obolibrary.org/obo/CHEBI_132941 3_STAR HP:0033702 biolink:PhenotypicFeature Subpleural curvilinear line This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present). hp.json http://purl.obolibrary.org/obo/HP_0033702 HP:0006118 biolink:PhenotypicFeature Shortening of all distal phalanges of the fingers Hypoplasia of all of the distal phalanx of finger. UMLS:C4021608 hp.json Shortening of all outermost bones of the fingers|Brachytelephalangy http://purl.obolibrary.org/obo/HP_0006118 HP:0008774 biolink:PhenotypicFeature Aplasia/Hypoplasia of the inner ear Aplasia or developmental hypoplasia of the inner ear. UMLS:C4024625 hp.json Absent/underdeveloped inner ear|Absent/small inner ear http://purl.obolibrary.org/obo/HP_0008774 GO:0009437 biolink:BiologicalProcess carnitine metabolic process The chemical reactions and pathways involving carnitine (hydroxy-trimethyl aminobutyric acid), a compound that participates in the transfer of acyl groups across the inner mitochondrial membrane. hp.json carnitine metabolism|vitamin Bt metabolism|vitamin Bt metabolic process http://purl.obolibrary.org/obo/GO_0009437 HP:0008773 biolink:PhenotypicFeature Aplasia/Hypoplasia of the middle ear Aplasia or developmental hypoplasia of all or part of the middle ear. UMLS:C4021529 hp.json Absent/underdeveloped middle ear|Middle ear hypoplasia/aplasia|Hypoplastic/aplastic middle ear structures|Absent/small middle ear http://purl.obolibrary.org/obo/HP_0008773 HP:0006112 biolink:PhenotypicFeature Expanded phalanges with widened medullary cavities UMLS:C1969287 hp.json http://purl.obolibrary.org/obo/HP_0006112 GO:0009438 biolink:BiologicalProcess methylglyoxal metabolic process The chemical reactions and pathways involving methylglyoxal, CH3-CO-CHO, the aldehyde of pyruvic acid. MetaCyc:METHGLYUT-PWY hp.json methylglyoxal pathway|methylglyoxal bypass|methylglyoxal metabolism http://purl.obolibrary.org/obo/GO_0009438 GO:0022414 biolink:BiologicalProcess reproductive process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. hp.json single organism reproductive process http://purl.obolibrary.org/obo/GO_0022414 goslim_generic HP:0008776 biolink:PhenotypicFeature Abnormal renal artery morphology Any structural abnormality of the renal artery. UMLS:C4024624 hp.json Abnormality of the renal artery|Abnormal kidney artery http://purl.obolibrary.org/obo/HP_0008776 HP:0006114 biolink:PhenotypicFeature Multiple palmar creases The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). UMLS:C1861872 hp.json Multiple palm lines http://purl.obolibrary.org/obo/HP_0006114 HP:0008775 biolink:PhenotypicFeature Abnormal prostate morphology An abnormality of the prostate. UMLS:C0747987 hp.json Abnormality of the prostate http://purl.obolibrary.org/obo/HP_0008775 HP:0008770 biolink:PhenotypicFeature Obsessive-compulsive trait The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. UMLS:C1834433 hp.json Obsessive-compulsive trait|Obsessive-compulsive traits http://purl.obolibrary.org/obo/HP_0008770 HP:0033709 biolink:PhenotypicFeature Increased sputum production An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway). hp.json Increased phlegm http://purl.obolibrary.org/obo/HP_0033709 CHEBI:35274 biolink:ChemicalSubstance ammonium ion derivative A derivative of ammonium, NH4(+), in which one (or more) of the hydrogens bonded to the nitrogen have been replaced with univalent organyl groups. The substituting carbon of the organyl group must not itself be directly attached to a heteroatom (thereby excluding protonated amides, hemiaminals, etc). hp.json azanium ion derivatives|ammonium ion derivatives|azanium ion derivative http://purl.obolibrary.org/obo/CHEBI_35274 3_STAR HP:0033708 biolink:PhenotypicFeature Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity hp.json Anti-HMGCR autoantibodies|Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies http://purl.obolibrary.org/obo/HP_0033708 HP:0008772 biolink:PhenotypicFeature Aplasia/Hypoplasia of the external ear The presence of aplasia or developmental hypoplasia of all or part of the external ear. UMLS:C4024626 hp.json Absent/underdeveloped external ear|Absent/small external ear http://purl.obolibrary.org/obo/HP_0008772 HP:0008771 biolink:PhenotypicFeature Aplasia/Hypoplasia of the ear The presence of aplasia or developmental hypoplasia of the ear. UMLS:C4024627 hp.json Absent/small ear|Absent/underdeveloped ear http://purl.obolibrary.org/obo/HP_0008771 HP:0006110 biolink:PhenotypicFeature Shortening of all middle phalanges of the fingers Short, hypoplastic middle phalanx of finger, affecting all fingers. UMLS:C1856912 hp.json http://purl.obolibrary.org/obo/HP_0006110 PATO:0000639 biolink:NamedThing degenerate A structural quality inhering in a bearer whose structure deteriorates or is lost over time due to an active pathological process. hp.json degeneration http://purl.obolibrary.org/obo/PATO_0000639 value_slim|mpath_slim OBO:MAXO_0001242 biolink:NamedThing vitamin B3 measurement The determination of the amount of vitamin B3 present in the sample. hp.json niacin measurement|vitamin B3 test|vitamin B3 assessment http://purl.obolibrary.org/obo/MAXO_0001242 OBO:MAXO_0001241 biolink:NamedThing vitamin B2 measurement The determination of the amount of vitamin B2 present in the sample. hp.json riboflavin measurement|vitamin B2 test|vitamin B2 assessment http://purl.obolibrary.org/obo/MAXO_0001241 OBO:MAXO_0001240 biolink:NamedThing vitamin B1 measurement The determination of the amount of vitamin B1 present in the sample. hp.json vitamin B1 test|vitamin B1 assessment|thiamin measurement http://purl.obolibrary.org/obo/MAXO_0001240 OBO:MAXO_0001246 biolink:NamedThing vitamin B9 measurement The determination of the amount of vitamin B9 present in the sample. hp.json vitamin B9 test|vitamin B9 assessment http://purl.obolibrary.org/obo/MAXO_0001246 OBO:MAXO_0001245 biolink:NamedThing vitamin B7 measurement The determination of the amount of vitamin B7 present in the sample. hp.json vitamin B7 test|vitamin B7 assessment http://purl.obolibrary.org/obo/MAXO_0001245 OBO:MAXO_0001244 biolink:NamedThing vitamin B6 measurement The determination of the amount of vitamin B6 present in the sample. hp.json vitamin B6 assessment|vitamin B6 test http://purl.obolibrary.org/obo/MAXO_0001244 GO:0022402 biolink:BiologicalProcess cell cycle process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. hp.json http://purl.obolibrary.org/obo/GO_0022402 gocheck_do_not_annotate OBO:MAXO_0001243 biolink:NamedThing vitamin B5 measurement The determination of the amount of vitamin B5 present in the sample. hp.json vitamin B5 assessment|vitamin B5 test http://purl.obolibrary.org/obo/MAXO_0001243 CHEBI:132954 biolink:ChemicalSubstance sebacate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of sebacic acid. hp.json sebacic acid anion|sebacate anion|decanedioic acid anion|decanedioic acid anions|sebacate anions|sebacic acid anions|sebacates http://purl.obolibrary.org/obo/CHEBI_132954 3_STAR HP:0033710 biolink:PhenotypicFeature Rest dyspnea A perception of shortness of breath that occurs independently of exertion. hp.json Breathlessness at rest|Dyspnoea at rest|Dyspnea at rest|Shortness of breath at rest http://purl.obolibrary.org/obo/HP_0033710 PATO:0000632 biolink:NamedThing symmetrical A symmetry quality inhering in a bearer by virtue of the bearer's being capable of division by a longitudinal plane into similar halves. hp.json symmetric http://purl.obolibrary.org/obo/PATO_0000632 mpath_slim|cell_quality|value_slim PATO:0000635 biolink:NamedThing unlocalised A spatial pattern inhering in a bearer by virtue of the bearer's not being confined or restricted to a particular location. hp.json http://purl.obolibrary.org/obo/PATO_0000635 mpath_slim|value_slim PATO:0000634 biolink:NamedThing unilateral A spatial pattern inhering in a bearer by virtue of the bearer's involvement of only one part or side. hp.json http://purl.obolibrary.org/obo/PATO_0000634 mpath_slim|value_slim HP:0033716 biolink:PhenotypicFeature EEG with frontal epileptiform discharges Focal epileptiform EEG discharges recorded in the frontal region. hp.json http://purl.obolibrary.org/obo/HP_0033716 HP:0033715 biolink:PhenotypicFeature Hippocampal sclerosis Atrophy with gliosis of the hippocampus with loss of neurons and the normal cortical architecture. hp.json Mesial temporal sclerosis http://purl.obolibrary.org/obo/HP_0033715 HP:0033718 biolink:PhenotypicFeature EEG with central epileptiform discharges Focal epileptiform EEG discharges recorded in the central region. hp.json http://purl.obolibrary.org/obo/HP_0033718 HP:0033717 biolink:PhenotypicFeature EEG with temporal epileptiform discharges Focal epileptiform EEG discharges recorded in the temporal region. hp.json http://purl.obolibrary.org/obo/HP_0033717 HP:0008789 biolink:PhenotypicFeature Cone-shaped capital femoral epiphysis A cone-shaped deformity of the proximal epiphysis of the femur. UMLS:C1846157 hp.json Cone-shaped end part of innermost thighbone http://purl.obolibrary.org/obo/HP_0008789 HP:0033712 biolink:PhenotypicFeature Repeated implantation failure Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles. hp.json Recurrent implantation failure http://purl.obolibrary.org/obo/HP_0033712 HP:0033711 biolink:PhenotypicFeature Pulmonary interstitial thickening Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening. hp.json http://purl.obolibrary.org/obo/HP_0033711 HP:0008788 biolink:PhenotypicFeature Delayed pubic bone ossification Delayed maturation and calcification of the pubic bone. UMLS:C1861528|UMLS:C1866710|UMLS:C4280411 hp.json Delayed mineralization of pubic bone|Delayed maturation fo pubic bone|Absent pubic ossification in infancy http://purl.obolibrary.org/obo/HP_0008788 hposlim_core HP:0006127 biolink:PhenotypicFeature Long proximal phalanx of finger Increased length of the proximal phalanx of finger. UMLS:C4025090 hp.json Long innermost finger bone http://purl.obolibrary.org/obo/HP_0006127 HP:0033714 biolink:PhenotypicFeature Multiple meningiomas The occurrence of multiple distinct meningiomas in the same individual. hp.json Multifocal meningiomata|Multiple meningiomata http://purl.obolibrary.org/obo/HP_0033714 HP:0006129 biolink:PhenotypicFeature Drumstick terminal phalanges Rounding and broadening of the tufts of the distal phalanges. UMLS:C1844822 hp.json Drumstick shaped digital bones http://purl.obolibrary.org/obo/HP_0006129 HP:0033713 biolink:PhenotypicFeature Anti-signal recognition particle antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle. hp.json Anti-SRP antibody positivity http://purl.obolibrary.org/obo/HP_0033713 CHEBI:132952 biolink:ChemicalSubstance oxalate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of oxalic acid. hp.json oxalate anions|oxalic acid anion|oxalic acid anions|oxalate anion|oxalates|ethanedioic acid anion|ethanedioic acid anions http://purl.obolibrary.org/obo/CHEBI_132952 3_STAR CHEBI:35281 biolink:ChemicalSubstance onium betaine Neutral molecules having charge-separated forms with an onium atom which bears no hydrogen atoms and that is not adjacent to the anionic atom. hp.json betaines|onium betaines http://purl.obolibrary.org/obo/CHEBI_35281 3_STAR HP:0008785 biolink:PhenotypicFeature Delayed ossification of pubic rami Delayed maturation and calcification of the rami (branches) of the pubic bone. UMLS:C1865363 hp.json http://purl.obolibrary.org/obo/HP_0008785 GO:0022403 biolink:BiologicalProcess cell cycle phase One of the distinct periods or stages into which the cell cycle is divided. Each phase is characterized by the occurrence of specific biochemical and morphological events. hp.json http://purl.obolibrary.org/obo/GO_0022403 gocheck_do_not_annotate OBO:MAXO_0001249 biolink:NamedThing vitamin C measurement The determination of the amount of vitamin C present in the sample. hp.json vitamin C test|vitamin C assessment http://purl.obolibrary.org/obo/MAXO_0001249 HP:0008784 biolink:PhenotypicFeature Wide capital femoral epiphyses Abnormally wide morphology of the proximal epiphysis of the femur. UMLS:C4024622 hp.json Wide end part of innermost thighbone http://purl.obolibrary.org/obo/HP_0008784 OBO:MAXO_0001248 biolink:NamedThing vitamin D measurement The determination of the amount of vitamin D present in the sample. hp.json vitamin D test|vitamin D assessment http://purl.obolibrary.org/obo/MAXO_0001248 GO:0022406 biolink:BiologicalProcess membrane docking The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. hp.json http://purl.obolibrary.org/obo/GO_0022406 goslim_pir OBO:MAXO_0001247 biolink:NamedThing vitamin B12 measurement The determination of the amount of vitamin B12 present in the sample. hp.json vitamin B12 test|vitamin B12 assessment http://purl.obolibrary.org/obo/MAXO_0001247 HP:0008786 biolink:PhenotypicFeature Iliac crest serration Irregularities of the iliac crest that produce the appearance of a lace border around it. UMLS:C1857186 hp.json Lacy appearance of iliac crest|Irregular lacy iliac crest http://purl.obolibrary.org/obo/HP_0008786 GO:0022408 biolink:BiologicalProcess negative regulation of cell-cell adhesion Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. hp.json down regulation of cell-cell adhesion|inhibition of cell-cell adhesion|down-regulation of cell-cell adhesion|downregulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022408 CHEBI:59238 biolink:ChemicalSubstance cyclic fatty acid Any fatty acid containing anywhere in its structure a ring of atoms. PMID:17113094|PMID:9300789 hp.json zyklische Fettsaeuren|acides gras cycliques|cyclic fatty acids|acidos grasos ciclicos http://purl.obolibrary.org/obo/CHEBI_59238 3_STAR HP:0008780 biolink:PhenotypicFeature Congenital bilateral hip dislocation UMLS:C0158713|SNOMEDCT_US:10155006 hp.json http://purl.obolibrary.org/obo/HP_0008780 CHEBI:35284 biolink:ChemicalSubstance ammonium betaine Any neutral molecule having charge-separated forms with a quaternary ammonium atom which bears no hydrogen atoms and that is not adjacent to the anionic atom. hp.json ammonium betaines http://purl.obolibrary.org/obo/CHEBI_35284 3_STAR GO:0022407 biolink:BiologicalProcess regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. hp.json http://purl.obolibrary.org/obo/GO_0022407 HP:0033719 biolink:PhenotypicFeature EEG with parietal epileptiform discharges Focal epileptiform EEG discharges recorded in the parietal region. hp.json http://purl.obolibrary.org/obo/HP_0033719 HP:0008783 biolink:PhenotypicFeature Wide proximal femoral metaphysis Increased width of the proximal part of the shaft (metaphysis) of the femur. UMLS:C4024623 hp.json Wide metaphysis of innermost thighbone http://purl.obolibrary.org/obo/HP_0008783 GO:0022409 biolink:BiologicalProcess positive regulation of cell-cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. hp.json activation of cell-cell adhesion|upregulation of cell-cell adhesion|up regulation of cell-cell adhesion|stimulation of cell-cell adhesion|up-regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022409 HP:0006121 biolink:PhenotypicFeature Acral ulceration A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. UMLS:C1860099 hp.json http://purl.obolibrary.org/obo/HP_0006121 GO:0071383 biolink:BiologicalProcess cellular response to steroid hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071383 GO:0034390 biolink:BiologicalProcess smooth muscle cell apoptotic process Any apoptotic process in a smooth muscle cell. Smooth muscle consists of non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. hp.json programmed cell death of smooth muscle cells by apoptosis|smooth muscle cell programmed cell death by apoptosis|SMC apoptosis|apoptosis of smooth muscle cells|smooth muscle cell apoptosis|programmed cell death, smooth muscle cells http://purl.obolibrary.org/obo/GO_0034390 GO:0034391 biolink:BiologicalProcess regulation of smooth muscle cell apoptotic process Any process that modulates the frequency, rate, or extent of smooth muscle cell apoptotic process. hp.json regulation of smooth muscle cell apoptosis|regulation of SMC apoptosis http://purl.obolibrary.org/obo/GO_0034391 GO:0034392 biolink:BiologicalProcess negative regulation of smooth muscle cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate, or extent of smooth muscle cell apoptotic process. hp.json inhibition of smooth muscle cell apoptosis|down-regulation of smooth muscle cell apoptosis|negative regulation of SMC apoptosis|downregulation of smooth muscle cell apoptosis|negative regulation of smooth muscle cell apoptosis|down regulation of smooth muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0034392 GO:0034393 biolink:BiologicalProcess positive regulation of smooth muscle cell apoptotic process Any process that activates or increases the frequency, rate, or extent of smooth muscle cell apoptotic process. hp.json positive regulation of SMC apoptosis|positive regulation of smooth muscle cell apoptosis|upregulation of smooth muscle cell apoptosis|up regulation of smooth muscle cell apoptosis|stimulation of smooth muscle cell apoptosis|up-regulation of smooth muscle cell apoptosis|activation of smooth muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0034393 PR:P56528 biolink:Protein ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (mouse) An ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 that is encoded in the genome of mouse. UniProtKB:P56528 hp.json 2'-phospho-cyclic-ADP-ribose transferase (mouse)|ADP-ribosyl cyclase 1 (mouse)|CD38 (mouse)|cyclic ADP-ribose hydrolase 1 (mouse)|Cd38|cADPr hydrolase 1 (mouse)|ADPRC 1 (mouse)|mCD38|2'-phospho-ADP-ribosyl cyclase (mouse)|NIM-R5 antigen (mouse)|I-19 (mouse)|2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase (mouse) http://purl.obolibrary.org/obo/PR_P56528 GO:0071377 biolink:BiologicalProcess cellular response to glucagon stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucagon stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071377 GO:0071375 biolink:BiologicalProcess cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. hp.json cellular response to polypeptide hormone stimulus http://purl.obolibrary.org/obo/GO_0071375 HP:0008716 biolink:PhenotypicFeature Urethrovaginal fistula The presence of a fistula between the vagina and the urethra. UMLS:C0269133|SNOMEDCT_US:50477003 hp.json Urethrovaginal fistulae http://purl.obolibrary.org/obo/HP_0008716 HP:0008715 biolink:PhenotypicFeature Testicular dysgenesis UMLS:C0302885|SNOMEDCT_US:253847002 hp.json http://purl.obolibrary.org/obo/HP_0008715 HP:0008718 biolink:PhenotypicFeature Unilateral renal dysplasia A unilateral form of developmental dysplasia of the kidney. SNOMEDCT_US:204951002|UMLS:C0431697 hp.json http://purl.obolibrary.org/obo/HP_0008718 HP:0008717 biolink:PhenotypicFeature Unilateral renal atrophy A unilateral form of atrophy of the kidney. SNOMEDCT_US:424998002|UMLS:C1827184 hp.json Kidney degeneration on one side|Unilateral kidney wasting http://purl.obolibrary.org/obo/HP_0008717 HP:0008711 biolink:PhenotypicFeature Benign prostatic hyperplasia The presence of non-malignant hyperplasia of the prostate. UMLS:C1704272|MSH:D011470|UMLS:C0005001|SNOMEDCT_US:266569009 hp.json Benign prostatic hypertrophy http://purl.obolibrary.org/obo/HP_0008711 HP:0008714 biolink:PhenotypicFeature Ureterovesical stenosis UMLS:C4024633 hp.json http://purl.obolibrary.org/obo/HP_0008714 GO:0071396 biolink:BiologicalProcess cellular response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071396 HP:0008726 biolink:PhenotypicFeature Hypoplasia of the vagina Developmental hypoplasia of the vagina. SNOMEDCT_US:253836009|UMLS:C1442988|UMLS:C0345309 hp.json Hypoplastic vagina|Underdeveloped vagina|Rudimentary vagina http://purl.obolibrary.org/obo/HP_0008726 HP:0008729 biolink:PhenotypicFeature Absence of labia majora UMLS:C1849575 hp.json Absent vaginal lips http://purl.obolibrary.org/obo/HP_0008729 HP:0008723 biolink:PhenotypicFeature Gonadal dysgenesis with female appearance, male Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. UMLS:C4020788|UMLS:C4024632 hp.json Xy female gonadal dysgenesis http://purl.obolibrary.org/obo/HP_0008723 HP:0008722 biolink:PhenotypicFeature Urethral diverticulum The presence of a diverticulum (sac or pouch) in the wall of the urethra. SNOMEDCT_US:90531003|UMLS:C0152443 hp.json http://purl.obolibrary.org/obo/HP_0008722 HP:0008724 biolink:PhenotypicFeature Hypoplasia of the ovary Developmental hypoplasia of the ovary. UMLS:C0685840|SNOMEDCT_US:93279005|UMLS:C1835452 hp.json Hypoplastic ovary|Underdeveloped ovary http://purl.obolibrary.org/obo/HP_0008724 HP:0008720 biolink:PhenotypicFeature Primary testicular failure UMLS:C1384582|SNOMEDCT_US:48723006|SNOMEDCT_US:370997001 hp.json http://purl.obolibrary.org/obo/HP_0008720 GO:0034352 biolink:BiologicalProcess positive regulation of glial cell apoptotic process Any process that activates or increases the frequency, rate, or extent of glial cell apoptotic process. hp.json positive regulation of glial cell apoptosis|upregulation of glial cell apoptosis|up regulation of glial cell apoptosis|stimulation of glial cell apoptosis|up-regulation of glial cell apoptosis|activation of glial cell apoptosis http://purl.obolibrary.org/obo/GO_0034352 GO:0034358 biolink:CellularComponent plasma lipoprotein particle A spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins. Plasma lipoprotein particles transport lipids, which are non-covalently associated with the particles, in the blood or lymph. hp.json http://purl.obolibrary.org/obo/GO_0034358 GO:0034350 biolink:BiologicalProcess regulation of glial cell apoptotic process Any process that modulates the frequency, rate, or extent of glial cell apoptotic process. hp.json regulation of glial cell apoptosis http://purl.obolibrary.org/obo/GO_0034350 GO:0034351 biolink:BiologicalProcess negative regulation of glial cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate, or extent of glial cell apoptotic process. hp.json down regulation of glial cell apoptosis|inhibition of glial cell apoptosis|down-regulation of glial cell apoptosis|downregulation of glial cell apoptosis|negative regulation of glial cell apoptosis http://purl.obolibrary.org/obo/GO_0034351 GO:0034349 biolink:BiologicalProcess glial cell apoptotic process Any apoptotic process in a glial cell, a non-neuronal cell of the nervous system. hp.json glial cell apoptosis|glial cell programmed cell death by apoptosis|apoptosis of glia|programmed cell death of glia by apoptosis|apoptosis of glial cells|programmed cell death of glial cells by apoptosis|glia apoptosis|programmed cell death, glia|programmed cell death, glial cells|glia programmed cell death by apoptosis http://purl.obolibrary.org/obo/GO_0034349 HP:0008708 biolink:PhenotypicFeature Partial development of the penile shaft UMLS:C1837379 hp.json http://purl.obolibrary.org/obo/HP_0008708 HP:0008705 biolink:PhenotypicFeature Ureteral triplication UMLS:C4024635 hp.json http://purl.obolibrary.org/obo/HP_0008705 HP:0008707 biolink:PhenotypicFeature Absent scrotum Congenital absence of the scrotum. SNOMEDCT_US:249233008|UMLS:C0426320 hp.json Absent scrotum http://purl.obolibrary.org/obo/HP_0008707 HP:0008706 biolink:PhenotypicFeature Distal urethral duplication UMLS:C4024634 hp.json http://purl.obolibrary.org/obo/HP_0008706 HP:0008703 biolink:PhenotypicFeature Gonadal calcification Deposition of calcium salts in gonadal tissue. UMLS:C4024636 hp.json http://purl.obolibrary.org/obo/HP_0008703 HP:0008702 biolink:PhenotypicFeature Absent internal genitalia UMLS:C4024637 hp.json http://purl.obolibrary.org/obo/HP_0008702 GO:0046326 biolink:BiologicalProcess positive regulation of glucose import Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. hp.json up-regulation of glucose import|activation of glucose import|positive regulation of glucose uptake|upregulation of glucose import|up regulation of glucose import|stimulation of glucose import http://purl.obolibrary.org/obo/GO_0046326 GO:0046325 biolink:BiologicalProcess negative regulation of glucose import Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. hp.json negative regulation of glucose uptake|downregulation of glucose import|down regulation of glucose import|inhibition of glucose import|down-regulation of glucose import http://purl.obolibrary.org/obo/GO_0046325 CHEBI:37838 biolink:ChemicalSubstance carboacyl group A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid. hp.json carboxylic acyl groups|carboxylic acyl group|carboacyl groups http://purl.obolibrary.org/obo/CHEBI_37838 3_STAR GO:0046324 biolink:BiologicalProcess regulation of glucose import Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. hp.json regulation of glucose uptake http://purl.obolibrary.org/obo/GO_0046324 UBERON:0014463 biolink:AnatomicalEntity cardiac ganglion Any of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery. EMAPA:36644|FMA:77582 hp.json cardiac ganglia|Wrisberg ganglion|cardiac ganglion of Wrisberg|ganglia cardiaca|ganglion of Wrisberg|cardiac ganglia set http://purl.obolibrary.org/obo/UBERON_0014463 GO:0046323 biolink:BiologicalProcess glucose import The directed movement of the hexose monosaccharide glucose into a cell or organelle. Wikipedia:Glucose_uptake hp.json glucose uptake http://purl.obolibrary.org/obo/GO_0046323 UBERON:0014464 biolink:AnatomicalEntity renal fat pad Encapsulated adipose tissue associated with the kidney. hp.json perirenal fat pad http://purl.obolibrary.org/obo/UBERON_0014464 pheno_slim|human_reference_atlas UBERON:0014466 biolink:AnatomicalEntity subarachnoid fissure FMA:75136 hp.json http://purl.obolibrary.org/obo/UBERON_0014466 UBERON:0002481 biolink:AnatomicalEntity bone tissue Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. CALOHA:TS-2011|MESH:D001842|ZFA:0005621|UMLS:C0391978|galen:BoneTissue|FMA:224804|MA:0002780|NCIT:C13076|VSAO:0000047|XAO:0004040|EMAPA:35179|Wikipedia:Bone_tissue hp.json bone|calcium tissue|portion of bone tissue|osteogenic tissue|mineralized bone tissue|osseous tissue http://purl.obolibrary.org/obo/UBERON_0002481 pheno_slim|uberon_slim CL:0002144 biolink:Cell capillary endothelial cell An endothelial cell found in capillaries. BTO:0004956|FMA:67756|CALOHA:TS-0112 hp.json http://purl.obolibrary.org/obo/CL_0002144 UBERON:0002483 biolink:AnatomicalEntity trabecular bone tissue Bone tissue that has a lattice-like or spongy structure; it is highly vascular and contains intercommunicating spaces filled with bone marrow. BTO:0001700|MA:0002782|FMA:24019|EMAPA:35873|CALOHA:TS-0110 hp.json substantia spongiosa ossium|cancellous bone tissue|trabecular substance|spongy bone|substantia trabecularis ossium|substantia spongiosa|cancellated bone|substantia trabecularis|cancellous bone|spongy bone tissue|trabecular bone http://purl.obolibrary.org/obo/UBERON_0002483 pheno_slim|uberon_slim CL:0002145 biolink:Cell ciliated columnar cell of tracheobronchial tree A ciliated columnar cell found in the trachea and bronchus. Vary from low to tall columnar; possesses up to 300 cilia at its surface, interspersed with long irregular microvilli with the cilia varying in length from about 6um in the trachea to about 4um in the terminal bronchioles; driving force of the ciliary current in the bronchial tree. FMA:70542 hp.json http://purl.obolibrary.org/obo/CL_0002145 UBERON:0002482 biolink:AnatomicalEntity lamellar bone Bone tissue that has a regular parallel alignment of collagen into sheets (lamellae) and is mechanically strong. EMAPA:37625|FMA:224806|MA:0002781|galen:LamellarBone hp.json http://purl.obolibrary.org/obo/UBERON_0002482 CL:0002149 biolink:Cell epithelial cell of uterus An epithelial cell of the uterus. FMA:256161 hp.json http://purl.obolibrary.org/obo/CL_0002149 UBERON:0002489 biolink:AnatomicalEntity coronal suture The dense, fibrous connective tissue joint between the tetrapod parietal bones and the frontal bone. EMAPA:19225|MA:0002795|FMA:52928|OpenCyc:Mx4rv2eGHZwpEbGdrcN5Y29ycA hp.json coronal suture of skull|frontoparietal suture|fronto-parietal suture|sutura coronalis http://purl.obolibrary.org/obo/UBERON_0002489 pheno_slim|uberon_slim UBERON:0002488 biolink:AnatomicalEntity helix of outer ear The helix is the prominent rim of the pinna. UMLS:C0229304|MA:0002793|OpenCyc:Mx4rwRDEk5wpEbGdrcN5Y29ycA|FMA:60992|NCIT:C32724 hp.json helix (auricula)|helix of pinna|helical part of pinna|helix of ear|helix|helix of auricle of ear http://purl.obolibrary.org/obo/UBERON_0002488 pheno_slim|uberon_slim UBERON:0002485 biolink:AnatomicalEntity prostate duct The minute canals that pass the prostatic secretions to the urethra. MA:0002785|NCIT:C13102|FMA:19580|EMAPA:36568|UMLS:C0227965 hp.json duct of prostate|prostate duct|prostate gland duct|prostatic duct|duct of prostate gland http://purl.obolibrary.org/obo/UBERON_0002485 pheno_slim UBERON:0002484 biolink:AnatomicalEntity bone marrow cavity The medullary cavities of the bones where bone marrow is stored. FMA:83698|MA:0002783|FMA:75147 hp.json medullary cavity|cavity of cancellous bone|marrow cavity http://purl.obolibrary.org/obo/UBERON_0002484 pheno_slim UBERON:0002486 biolink:AnatomicalEntity glottis The vocal apparatus of the larynx, which includes the vocal cords and the opening between them. BTO:0001627|GAID:343|AAO:0010610|MESH:D005931|FMA:55414|UMLS:C0017681|MA:0002788|NCIT:C12724 hp.json http://purl.obolibrary.org/obo/UBERON_0002486 pheno_slim|uberon_slim UBERON:0014451 biolink:AnatomicalEntity tongue taste bud A taste bud that is located on the tongue, situated on a gustatory papilla. hp.json gustatory papillae taste bud|gustatory papilla taste bud http://purl.obolibrary.org/obo/UBERON_0014451 pheno_slim CHEBI:37848 biolink:ChemicalSubstance plant hormone A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds. Wikipedia:Phytohormone hp.json plant hormones|plant growth factor|plant growth hormones|plant growth hormone|plant growth factors|phytohormones|phytohormone http://purl.obolibrary.org/obo/CHEBI_37848 3_STAR UBERON:0014452 biolink:AnatomicalEntity gustatory epithelium of tongue A gustatory epithelium that is part of a tongue. BIRNLEX:4099|UMLS:C1179150 hp.json lingual gustatory epithelium|lingual gustatory epithelium http://purl.obolibrary.org/obo/UBERON_0014452 UBERON:0014453 biolink:AnatomicalEntity gustatory epithelium of palate A gustatory epithelium that is part of a roof of mouth. hp.json palatal gustatory epithelium http://purl.obolibrary.org/obo/UBERON_0014453 UBERON:0014454 biolink:AnatomicalEntity visceral abdominal adipose tissue Subcutaneous adipose tissue that is located in the peritoneal cavity. BTO:0004041|CALOHA:TS-2405 hp.json intra-abdominal fat|abdominal fat|organ fat|intra-abdominal adipose tissue|visceral fat|visceral adipose tissue http://purl.obolibrary.org/obo/UBERON_0014454 UBERON:0014455 biolink:AnatomicalEntity subcutaneous abdominal adipose tissue Subcutaneous adipose tissue that is located in the abdominal region. CALOHA:TS-2406 hp.json subcutaneous abdominal fat|subcutaneous fat of abdominal region|abdominal subcutaneous adipose tissue http://purl.obolibrary.org/obo/UBERON_0014455 UBERON:0002470 biolink:AnatomicalEntity autopod region Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot. EFO:0000877|MIAA:0000091|FMA:83015|UMLS:C0687080|EMAPA:32722|NCIT:C77660|BTO:0004359|MA:0002714|MAT:0000091 hp.json autopodial limb segment|autopodium|autopod|autopodium region|autopodial element|distal segment of limb|paw/hand/foot/hoof|distal free limb segment|manus/pes|distal segment of free limb|autopodial segment|paw|pod http://purl.obolibrary.org/obo/UBERON_0002470 pheno_slim|efo_slim|uberon_slim UBERON:0002472 biolink:AnatomicalEntity stylopod The proximal free limb segment. Includes as parts the stylopod skeleton. EFO:0000879|MIAA:0000093|FMA:83014|MA:0002717|MAT:0000093 hp.json proximal free limb segment|proximal part of limb|stylopodium|proximal segment of free limb|stylopodial limb segment|propodium http://purl.obolibrary.org/obo/UBERON_0002472 efo_slim|uberon_slim GO:0061951 biolink:BiologicalProcess establishment of protein localization to plasma membrane The directed movement of a protein to a specific location in a plasma membrane. hp.json http://purl.obolibrary.org/obo/GO_0061951 UBERON:0002471 biolink:AnatomicalEntity zeugopod The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). EFO:0000878|MIAA:0000092|FMA:83016|MA:0002716|MAT:0000092 hp.json middle part of limb|zygopod|zeugopodium|zeugopodial limb segment|zeugopod limb segment|middle segment of free limb|middle free limb segment|zygopodium|epipodium|middle limb segment http://purl.obolibrary.org/obo/UBERON_0002471 pheno_slim|efo_slim|uberon_slim CL:0002159 biolink:Cell general ecto-epithelial cell Epithelial cells derived from general body ectoderm and ectoderm placodes. FMA:70556 hp.json http://purl.obolibrary.org/obo/CL_0002159 CHEBI:13850 biolink:ChemicalSubstance apoprotein An apoprotein is a protein devoid of its characteristic prosthetic group or metal. KEGG:C16240 hp.json apoproteins|apoprotein http://purl.obolibrary.org/obo/CHEBI_13850 3_STAR UBERON:0002478 biolink:AnatomicalEntity orbitosphenoid The bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young. FMA:52869|VHOG:0001153|MA:0002773|ZFA:0000253|AAO:0000345|TAO:0000253|EMAPA:18719 hp.json alae parvae|lesser wing of sphenoid bone|ala minor (os sphenoidale)|ala minor ossis sphenoidalis|orbitosphenoids|orbitosphenoid bone|lesser wing of sphenoidal bone|lesser wing of sphenoid|ingrassia's process http://purl.obolibrary.org/obo/UBERON_0002478 vertebrate_core|pheno_slim UBERON:0002474 biolink:AnatomicalEntity cerebellar peduncular complex A composite structure of the brain stem, which is subdivided into the superior cerebellar peduncle of pons, the decussation of superior cerebellar peduncle and the superior cerebellar peduncle of midbrain (MM)[NIF, based on NN]. FMA:77791|BAMS:cbp|MBA:752|BIRNLEX:970|UMLS:C0228514|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=224 hp.json set of cerebellar peduncles|cerebellar peduncles and decussations|basal ganglia (anatomic)|cerebellum peduncles|ganglia basales|corpus striatum (Savel'ev)|cerebellar peduncles set|pedunculi cerebellares|cerebellar peduncles http://purl.obolibrary.org/obo/UBERON_0002474 uberon_slim UBERON:0002473 biolink:AnatomicalEntity intercerebral commissure A commissure that connects the two cerebral hemispheres. Examples: anterior commissure, corpus callosum. MA:0002721|FMA:67930|EMAPA:35435 hp.json inter-hemispheric commissure|interhemispheric commissure|commissure of cerebrum http://purl.obolibrary.org/obo/UBERON_0002473 CL:0002153 biolink:Cell corneocyte The dead keratin-filled squamous cell of the stratum corneum. This cell type lacks a nucleus. BTO:0001943|FMA:68650 hp.json http://purl.obolibrary.org/obo/CL_0002153 CHEBI:25830 biolink:ChemicalSubstance p-quinones A quinone in which the two oxo groups of the quinone are located para to each other on the 6-membered quinonoid ring. hp.json para-quinones|p-quinone http://purl.obolibrary.org/obo/CHEBI_25830 3_STAR UBERON:0002459 biolink:AnatomicalEntity inferior palpebral vein A blood vessel that drains from from an lower eyelid. EMAPA:37156|FMA:50913|UMLS:C1760539|NCIT:C53049|MA:0002147 hp.json venae palpebrales inferiores|vein of inferior eyelid|inferior palpebral veins set|lower palpebral vein|inferior palpebral veins http://purl.obolibrary.org/obo/UBERON_0002459 human_reference_atlas UBERON:0014445 biolink:AnatomicalEntity acetabular fossa The acetabular fossa is the roughened depression in the centre of the acetabulum, surrounded by the lunate acetabular surface and the acetabular notch. The acetabular fossa provides an insertion point for the teres ligaments that secure the femoral head. FMA:17269 hp.json fossa acetabularis (acetabuli)|fossa acetabularis|fossa acetabuli http://purl.obolibrary.org/obo/UBERON_0014445 pheno_slim UBERON:0014446 biolink:AnatomicalEntity acetabular notch The acetabulum presents below a deep notch, the acetabular notch, which is continuous with a circular non-articular depression, the acetabular fossa, at the bottom of the cavity: this depression is perforated by numerous apertures, and lodges a mass of fat. The notch is converted into a foramen by the transverse ligament; through the foramen nutrient vessels and nerves enter the joint; the margins of the notch serve for the attachment of the ligament of the head of the femur. FMA:16944 hp.json http://purl.obolibrary.org/obo/UBERON_0014446 UBERON:0014444 biolink:AnatomicalEntity pubic ramus hp.json ramus of pubis http://purl.obolibrary.org/obo/UBERON_0014444 pheno_slim UBERON:0002461 biolink:AnatomicalEntity anterior abdominal wall muscle Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus. MA:0002268|EHDAA2:0000125|NCIT:C52890|FMA:20278|EMAPA:17745|UMLS:C1744565|EMAPA:17744 hp.json ventral abdominal wall muscle|muscle of anterior abdominal wall http://purl.obolibrary.org/obo/UBERON_0002461 UBERON:0002460 biolink:AnatomicalEntity vesical vein A tributary of the iliac vein that drains the urinary bladder. EMAPA:37205|MA:0002263 hp.json vesical veins|vesical veins set|venae vesicales http://purl.obolibrary.org/obo/UBERON_0002460 human_reference_atlas|uberon_slim UBERON:0014438 biolink:AnatomicalEntity superior pubic ramus The superior pubic ramus is a part of the pubic bone which forms a portion of the obturator foramen. It extends from the body to the median plane where it articulates with its fellow of the opposite side. It is conveniently described in two portions, viz. , a medial flattened part and a narrow lateral prismoid portion. FMA:16988 hp.json superior rami of the pubes|superior ramus of pubis|superior ramus of the pubis http://purl.obolibrary.org/obo/UBERON_0014438 UBERON:0014439 biolink:AnatomicalEntity inferior pubic ramus The inferior pubic ramus is thin and flattened. It passes lateralward and downward from the medial end of the superior ramus; it becomes narrower as it descends and joins with the inferior ramus of the ischium below the obturator foramen. FMA:16989 hp.json inferior ramus of pubis|inferior rami of the pubes|inferior ramus of the pubis http://purl.obolibrary.org/obo/UBERON_0014439 pheno_slim UBERON:0002466 biolink:AnatomicalEntity intestine secretion Clear to pale yellow watery secretions from the glands lining the small intestine walls. Secretion is stimulated by the mechanical pressure of partly digested food in the intestine. UMLS:C0021849|MA:0002515|GAID:1162|NCIT:C32875|MESH:D007419|FMA:62974|BTO:0000644|Wikipedia:Succus_entericus hp.json succus entericus|succus entericus|intestinal juice|intestinal secretion http://purl.obolibrary.org/obo/UBERON_0002466 uberon_slim|pheno_slim UBERON:0002469 biolink:AnatomicalEntity esophagus mucosa A mucosa that is part of a esophagus [Automatically generated definition]. SCTID:362127004|NCIT:C32538|EMAPA:26981|BTO:0002859|MESH:D000071041|FMA:62996|MA:0002680|UMLS:C0227176 hp.json oesophagus mucosa|mucosa of esophagus|mucous membrane of esophagus|tunica mucosa esophagi|esophageal mucous membrane|esophageal mucosa|tunica mucosa oesophagi|tunica mucosa oesophagi|mucous membrane of oesophagus|oesophagus mucous membrane|lamina muscularis mucosae oesophageae|tunica mucosa oesophageae|esophagus mucous membrane|esophagus mucosa|muscularis mucosae of oesophagus|mucosa of oesophagus|oesophageal mucosa http://purl.obolibrary.org/obo/UBERON_0002469 UBERON:0002463 biolink:AnatomicalEntity muscle of posterior compartment of hindlimb stylopod Any of the posterior thigh muscles. [WP,modified]. EHDAA:8295|MA:0002312|UMLS:C0584895|EMAPA:19145|FMA:22427|VHOG:0000844|NCIT:C53042|FMA:81022|EHDAA2:0000727|BTO:0003179|OpenCyc:Mx4rvVjdtJwpEbGdrcN5Y29ycA hp.json hamstring muscle|set of hamstring muscles|posterior femoral muscles|posterior femoral muscle|muscle of posterior compartment of thigh|hamstring|posterior fascial compartment of thigh|muscularis compartimentum femoris posterius http://purl.obolibrary.org/obo/UBERON_0002463 uberon_slim UBERON:0002465 biolink:AnatomicalEntity lymphoid system The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. GAID:931|MIAA:0000197|NCIT:C12746|MA:0002435|UMLS:C0024235|ZFA:0000385|XAO:0003199|Wikipedia:Lymphoid_system|TAO:0000385|EMAPA:37664|OpenCyc:Mx4rwQAKT5wpEbGdrcN5Y29ycA|EHDAA:8677|VHOG:0000842|MAT:0000197|EHDAA2:0001043|SCTID:362589007|FMA:74594 hp.json lymphatic circulatory system|lymphatic drainage system|systema lymphoideum|lymphatic drainage system|systema lymphoideum|lymphatic circulatory system|lymphatic system http://purl.obolibrary.org/obo/UBERON_0002465 uberon_slim|vertebrate_core UBERON:0002464 biolink:AnatomicalEntity nerve trunk BTO:0000927|FMA:14383|EHDAA:4675|FMA:5913|MA:0002408|MA:0000229|EMAPA:16986 hp.json trunk of peripheral nerve|trunk of nerve|peripheral nerve trunk http://purl.obolibrary.org/obo/UBERON_0002464 GO:1900426 biolink:BiologicalProcess positive regulation of defense response to bacterium Any process that activates or increases the frequency, rate or extent of defense response to bacterium. hp.json up-regulation of defence response to bacterium|upregulation of defense response to bacteria|upregulation of defence response to bacteria|up-regulation of defense response to bacterium|activation of resistance response to pathogenic bacterium|positive regulation of defense response to bacterium, incompatible interaction|up regulation of defence response to bacterium|up regulation of defense response to bacterium|positive regulation of defence response to bacteria|activation of defense response to bacterium|positive regulation of defense response to bacteria|positive regulation of defence response to bacterium|activation of antibacterial peptide activity|upregulation of antibacterial peptide activity|up regulation of defense response to bacteria|up regulation of defence response to bacteria|upregulation of defense response to bacterium|upregulation of defence response to bacterium|up-regulation of defense response to bacteria|up-regulation of defence response to bacteria|positive regulation of antibacterial peptide activity|activation of defence response to bacterium|up regulation of antibacterial peptide activity|activation of resistance response to pathogenic bacteria|up-regulation of antibacterial peptide activity|activation of defense response to bacteria|activation of defence response to bacteria http://purl.obolibrary.org/obo/GO_1900426 GO:1900425 biolink:BiologicalProcess negative regulation of defense response to bacterium Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium. hp.json inhibition of defence response to pathogenic bacterium, incompatible interaction|inhibition of defense response to bacterium, incompatible interaction|inhibition of response to pathogenic bacterium (incompatible interaction)|inhibition of resistance response to pathogenic bacteria|inhibition of response to pathogenic bacteria (incompatible interaction)|inhibition of defense response to bacteria|down regulation of antibacterial peptide activity|inhibition of defence response to bacteria|inhibition of defence response to bacterium|negative regulation of defense response to bacterium, incompatible interaction|down-regulation of antibacterial peptide activity|negative regulation of antibacterial peptide activity|downregulation of defence response to bacteria|down-regulation of defence response to bacterium|negative regulation of defence response to bacterium|downregulation of defense response to bacteria|down-regulation of defense response to bacterium|inhibition of antibacterial peptide activity|down regulation of defense response to bacterium|down regulation of defence response to bacterium|down regulation of defence response to bacteria|down regulation of defense response to bacteria|inhibition of resistance response to pathogenic bacterium|downregulation of defence response to bacterium|downregulation of antibacterial peptide activity|negative regulation of defense response to bacteria|negative regulation of defence response to bacteria|down-regulation of defense response to bacteria|inhibition of defense response to bacterium|down-regulation of defence response to bacteria|downregulation of defense response to bacterium|inhibition of defence response to pathogenic bacteria, incompatible interaction http://purl.obolibrary.org/obo/GO_1900425 GO:1900424 biolink:BiologicalProcess regulation of defense response to bacterium Any process that modulates the frequency, rate or extent of defense response to bacterium. hp.json regulation of antibacterial peptide activity|regulation of resistance response to pathogenic bacterium|regulation of defence response to pathogenic bacterium, incompatible interaction|regulation of resistance response to pathogenic bacteria|regulation of defence response to pathogenic bacteria, incompatible interaction|regulation of defence response to bacterium, incompatible interaction|regulation of defense response to bacterium, incompatible interaction|regulation of defense response to bacteria|regulation of defence response to bacteria|regulation of defence response to bacterium http://purl.obolibrary.org/obo/GO_1900424 CHEBI:37826 biolink:ChemicalSubstance sulfuric acid derivative hp.json sulfuric acid derivatives|sulfuric acid derivative http://purl.obolibrary.org/obo/CHEBI_37826 3_STAR UBERON:0014437 biolink:AnatomicalEntity iliac crest Is part of the pelvis on the edge of the wing of the ilium. Round in shape, dorsal to the pubis and ischium. Acts as structrure that muscles can attach too. MA:0003053|NCIT:C103818|EMAPA:37602|FMA:16914 hp.json http://purl.obolibrary.org/obo/UBERON_0014437 pheno_slim UBERON:0014430 biolink:AnatomicalEntity sciatic notch Either of two notches on the dorsal border of the hip bone on each side that when closed off by ligaments form the corresponding sciatic foramina. hp.json http://purl.obolibrary.org/obo/UBERON_0014430 PR:000023661 biolink:Protein orotidine 5'-phosphate decarboxylase A protein that is a translation product of the Escherichia coli K-12 pyrF gene or a 1:1 ortholog thereof. hp.json pyrF|OMP decarboxylase|OMPdecase|OMPDCase http://purl.obolibrary.org/obo/PR_000023661 GO:0061971 biolink:BiologicalProcess replacement bone morphogenesis The process in which bones are generated and organized as a result of the conversion of another structural tissue into bone. hp.json http://purl.obolibrary.org/obo/GO_0061971 CL:0002132 biolink:Cell stromal cell of ovary A stomal cell of the ovary FMA:72299 hp.json ovarian stromal cell http://purl.obolibrary.org/obo/CL_0002132 GO:0061973 biolink:BiologicalProcess membrane bone morphogenesis The process in which bone which forms deep in the organism are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0061973 GO:0061972 biolink:BiologicalProcess dermal bone morphogenesis The process in which bone which forms superficially in the organism are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0061972 CL:0002139 biolink:Cell endothelial cell of vascular tree An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. BTO:0001854|FMA:67755|CALOHA:TS-1106 hp.json vascular endothelial cell|cubodial endothelial cell of vascular tree http://purl.obolibrary.org/obo/CL_0002139 CL:0002138 biolink:Cell endothelial cell of lymphatic vessel A endothelial cell of a lymphatic vessel. The border of the oak leaf-shaped endothelial cell of initial lymphatics are joined by specialized buttons. The discontinuous feature of buttons distinguishes them from zippers in collecting lymphatics, but both types of junctions are composed of proteins typical of adherens junctions and tight junctions found in the endothelium of blood vessels. Buttons seal the sides of flaps of the oak leaf-shaped endothelial cell, leaving open the tips of flaps as routes for fluid entry without disassembly and reformation of intercellular junctions. BTO:0004167|FMA:68458 hp.json LEC|lymphatic endothelial cell http://purl.obolibrary.org/obo/CL_0002138 UBERON:0002456 biolink:AnatomicalEntity internal thoracic artery An artery that supplies the anterior chest wall and the breasts. It is a paired artery, with one running along each side of the sternum, to continue after its bifurcation as the superior epigastric and musculophrenic arteries. [WP,unvetted]. OpenCyc:Mx4rMe0MIao8EduQrwACs5b6Bw|EHDAA:8585|UMLS:C0226276|FMA:3960|NCIT:C52941|MA:0001984|MA:0001982|EHDAA2:0000880|EMAPA:18617 hp.json arteria thoracica interna|arteria mammaria interna|internal thoracic mammary artery|internal mammary artery|mammary artery http://purl.obolibrary.org/obo/UBERON_0002456 uberon_slim|human_reference_atlas UBERON:0002458 biolink:AnatomicalEntity spinal artery Arteries that supply the spinal cord. EHDAA2:0001890|SCTID:244228006|ZFA:0000682|NCIT:C33587|UMLS:C0447043|EMAPA:18241|TAO:0000682|EHDAA:4355|Wikipedia:Spinal_artery|MA:0002043 hp.json spinal arteries http://purl.obolibrary.org/obo/UBERON_0002458 uberon_slim|vertebrate_core UBERON:0002457 biolink:AnatomicalEntity intersomitic artery The small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries. EHDAA:4340|TAO:0001061|MA:0001985|EHDAA2:0000882|XAO:0004165|VHOG:0000225|EMAPA:17616|ZFA:0001061 hp.json intersegmental arteries|intersegmental artery http://purl.obolibrary.org/obo/UBERON_0002457 vertebrate_core|pheno_slim UBERON:0002451 biolink:AnatomicalEntity endometrial gland The mucous secreting gland associated with the mucuous membrane lining the uterus. Wikipedia:Uterine_glands|UMLS:C1183035|NCIT:C33842|BTO:0004518|EMAPA:29919|SCTID:361377009|MA:0001726|BTO:0003433 hp.json glandulae uterinae|glandulae uterinae|endometrial mucuous gland|glandulae uterinae|endometrial gland|endometrium gland|uterine gland http://purl.obolibrary.org/obo/UBERON_0002451 uberon_slim|organ_slim|pheno_slim|human_reference_atlas OBO:chebi#has_functional_parent biolink:NamedThing has functional parent hp.json http://purl.obolibrary.org/obo/chebi#has_functional_parent UBERON:0002453 biolink:AnatomicalEntity ethmoid sinus The evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses. UMLS:C0015028|GAID:356|MA:0001792|FMA:84115|NCIT:C12276|MESH:D005005 hp.json ethmoidal sinus|ethmoidal air cell|ethmoidal bone sinus|cellulae ethmoidales http://purl.obolibrary.org/obo/UBERON_0002453 uberon_slim|pheno_slim HP:0031060 biolink:PhenotypicFeature Impaired ability to dress oneself This applies to an individual who needs help with dressing or needs to be completely dressed. hp.json http://purl.obolibrary.org/obo/HP_0031060 HP:0031061 biolink:PhenotypicFeature Impaired toileting ability This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. hp.json http://purl.obolibrary.org/obo/HP_0031061 HP:0031062 biolink:PhenotypicFeature Impaired transferring ability Applies to an individual who needs help in moving from bed to chair or requires a complete transfer. hp.json http://purl.obolibrary.org/obo/HP_0031062 CHEBI:25810 biolink:ChemicalSubstance oxopurine hp.json oxopurines http://purl.obolibrary.org/obo/CHEBI_25810 3_STAR HP:0031067 biolink:PhenotypicFeature Empty ovarian follicle A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization. hp.json Empty follicle syndrome http://purl.obolibrary.org/obo/HP_0031067 HP:0031068 biolink:PhenotypicFeature obsolete Increased femoral torsion hp.json http://purl.obolibrary.org/obo/HP_0031068 HP:0031069 biolink:PhenotypicFeature Abnormal femoral torsion Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range. hp.json http://purl.obolibrary.org/obo/HP_0031069 HP:0031063 biolink:PhenotypicFeature Impaired feeding ability Applies to an individual who needs partial or total help with feeding or requires parenteral feeding. hp.json http://purl.obolibrary.org/obo/HP_0031063 HP:0031064 biolink:PhenotypicFeature Impaired continence Partial or total incontinence of bowel or bladder. hp.json http://purl.obolibrary.org/obo/HP_0031064 HP:0031065 biolink:PhenotypicFeature Abnormal ovarian morphology hp.json http://purl.obolibrary.org/obo/HP_0031065 HP:0031066 biolink:PhenotypicFeature Abnormal ovarian physiology Any anomaly of ovarian function. hp.json http://purl.obolibrary.org/obo/HP_0031066 GO:0046364 biolink:BiologicalProcess monosaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of monosaccharides, polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. hp.json monosaccharide formation|monosaccharide anabolism|monosaccharide biosynthesis|monosaccharide synthesis http://purl.obolibrary.org/obo/GO_0046364 CHEBI:84186 biolink:ChemicalSubstance L-proline derivative A proteinogenic amino acid derivative resulting from reaction of L-proline at the amino group or the carboxy group, or from the replacement of any hydrogen of L-proline by a heteroatom. hp.json L-proline derivatives http://purl.obolibrary.org/obo/CHEBI_84186 3_STAR CHEBI:84185 biolink:ChemicalSubstance D-proline derivative A non-proteinogenic amino acid derivative resulting from reaction of D-proline at the amino group or the carboxy group, or from the replacement of any hydrogen of D-proline by a heteroatom. hp.json D-proline derivatives http://purl.obolibrary.org/obo/CHEBI_84185 3_STAR GO:0071322 biolink:BiologicalProcess cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071322 HP:0031070 biolink:PhenotypicFeature obsolete Femoral retroversion hp.json http://purl.obolibrary.org/obo/HP_0031070 HP:0031071 biolink:PhenotypicFeature Abnormal endocrine morphology Any anomaly of the structure of an organ ofthe endocrine system. hp.json http://purl.obolibrary.org/obo/HP_0031071 HP:0031072 biolink:PhenotypicFeature Abnormal endocrine physiology Any anomaly of the function of the endocrine system. hp.json http://purl.obolibrary.org/obo/HP_0031072 HP:0031073 biolink:PhenotypicFeature Abnormal response to endocrine stimulation test An anomalous response to a test that is designed to probe the function of the endocrine system. hp.json http://purl.obolibrary.org/obo/HP_0031073 UBERON:0014490 biolink:AnatomicalEntity middle phalanx of digit 4 A middle phalanx that is part of a digit 4 [Automatically generated definition]. hp.json 4th digit middle phalanx|intermediate phalanx of digit 4|fourth digit middle phalanx|fourth middle phalanx|middle phalanx of digit IV|middle phalanx of ring digit|intermediate phalanx of fourth digit|digit 4 intermediate phalanx|4th digit of intermediate phalanx|middle phalanx of 4th digit|middle phalanx of fourth digit|digit IV P2|digit 4 middle phalanx|4th digit intermediate phalanx|4th digit of middle phalanx|intermediate phalanx of 4th digit|fourth digit intermediate phalanx http://purl.obolibrary.org/obo/UBERON_0014490 UBERON:0014491 biolink:AnatomicalEntity middle phalanx of digit 5 A middle phalanx that is part of a digit 5 [Automatically generated definition]. hp.json fifth digit middle phalanx|middle phalanx of little digit|intermediate phalanx of digit 5|5th digit middle phalanx|fifth middle phalanx|5th digit of intermediate phalanx|middle phalanx of 5th digit|digit 5 intermediate phalanx|middle phalanx of fifth digit|fifth digit intermediate phalanx|intermediate phalanx of 5th digit|5th digit of middle phalanx|5th digit intermediate phalanx|digit 5 middle phalanx|digit V P2|middle phalanx of digit V|intermediate phalanx of fifth digit http://purl.obolibrary.org/obo/UBERON_0014491 GO:1900449 biolink:BiologicalProcess regulation of glutamate receptor signaling pathway Any process that modulates the frequency, rate or extent of glutamate receptor signaling pathway. hp.json regulation of glutamate signaling pathway|regulation of glutamate signalling pathway http://purl.obolibrary.org/obo/GO_1900449 HP:0031078 biolink:PhenotypicFeature Impaired cortisol response to corticotropin releasing hormone stimulation test Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test. hp.json http://purl.obolibrary.org/obo/HP_0031078 HP:0031079 biolink:PhenotypicFeature Impaired growth-hormone response to insulin stimulation test Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT). hp.json http://purl.obolibrary.org/obo/HP_0031079 HP:0031074 biolink:PhenotypicFeature Abnormal response to ACTH stimulation test An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. hp.json Abnormal response to adrenocorticotropic-hormone stimulation test|Abnormal response to corticotropin stimulation test http://purl.obolibrary.org/obo/HP_0031074 HP:0031075 biolink:PhenotypicFeature Abnormal response to insulin tolerance test An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level. hp.json http://purl.obolibrary.org/obo/HP_0031075 CHEBI:37808 biolink:ChemicalSubstance butane A straight chain alkane composed of 4 carbon atoms. Beilstein:969129|Reaxys:969129|PMID:24179026|PDBeChem:NBU|Gmelin:1148|Wikipedia:Butane|CAS:106-97-8|CAS:106-97-8 hp.json butane|R-600|N-BUTANE|butane|E 943a|E-943a|n-C4H10|n-Butan|n-butane|E943a http://purl.obolibrary.org/obo/CHEBI_37808 3_STAR HP:0031076 biolink:PhenotypicFeature Impaired cortisol response to insulin stimulation test Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT). hp.json http://purl.obolibrary.org/obo/HP_0031076 HP:0031077 biolink:PhenotypicFeature Abnormal response to corticotropin releasing hormone stimulation test An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals. hp.json Abnormal response to CRH stimulation test http://purl.obolibrary.org/obo/HP_0031077 CHEBI:84196 biolink:ChemicalSubstance 3-hydroxy fatty acid anion A hydroxy fatty acid anion obtained by deprotonation of the carboxy group of any 3-hydroxy fatty acid. hp.json 3-hydroxy fatty acid http://purl.obolibrary.org/obo/CHEBI_84196 3_STAR GO:0071312 biolink:BiologicalProcess cellular response to alkaloid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an alkaloid stimulus. Alkaloids are a large group of nitrogenous substances found in naturally in plants, many of which have extracts that are pharmacologically active. hp.json http://purl.obolibrary.org/obo/GO_0071312 GO:0071310 biolink:BiologicalProcess cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071310 HP:0031081 biolink:PhenotypicFeature Impaired cortisol response to glucagon stimulation test Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test. hp.json http://purl.obolibrary.org/obo/HP_0031081 HP:0031082 biolink:PhenotypicFeature Impaired growth-hormone response to glucagon stimulation test Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test. hp.json http://purl.obolibrary.org/obo/HP_0031082 UBERON:0014483 biolink:AnatomicalEntity distal phalanx of digit 1 A distal phalanx that is part of a digit 1 [Automatically generated definition]. hp.json distal phalanx of first digit|digit I P3|first distal phalanx|distal phalanx of digit I|digit 1 distal phalanx http://purl.obolibrary.org/obo/UBERON_0014483 HP:0031083 biolink:PhenotypicFeature Abnormal response to human chorionic gonadotrophin stimulation test An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors. hp.json Abnormal response to hCG stimulation test http://purl.obolibrary.org/obo/HP_0031083 UBERON:0014484 biolink:AnatomicalEntity distal phalanx of digit 2 A distal phalanx that is part of a digit 2 [Automatically generated definition]. hp.json digit 2 distal phalanx|digit II P3|second digit distal phalanx|second distal phalanx|2nd digit distal phalanx|distal phalanx of second digit|distal phalanx of 2nd digit|distal phalanx of digit II|distal phalanx of index digit http://purl.obolibrary.org/obo/UBERON_0014484 HP:0031084 biolink:PhenotypicFeature Excessive insulin response to glucagon test An abnormally high increase in insulin levels following a glucagon stimulation test. hp.json http://purl.obolibrary.org/obo/HP_0031084 HP:0031080 biolink:PhenotypicFeature Abnormal response to glucagon stimulation test An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH). hp.json http://purl.obolibrary.org/obo/HP_0031080 UBERON:0014489 biolink:AnatomicalEntity middle phalanx of digit 3 A middle phalanx that is part of a digit 3 [Automatically generated definition]. hp.json 3rd digit intermediate phalanx|middle phalanx of third digit|middle phalanx of digit III|digit 3 middle phalanx|third digit intermediate phalanx|middle phalanx of 3rd digit|3rd digit of intermediate phalanx|3rd digit middle phalanx|intermediate phalanx of third digit|third digit middle phalanx|middle phalanx of middle digit|intermediate phalanx of 3rd digit|3rd digit of middle phalanx|digit III P2|third middle phalanx|intermediate phalanx of digit 3|digit 3 intermediate phalanx http://purl.obolibrary.org/obo/UBERON_0014489 HP:0031089 biolink:PhenotypicFeature Palatal edema Swelling related to fluid accumulation within the palate. hp.json Palate oedema|Palatal oedema|Palate edema http://purl.obolibrary.org/obo/HP_0031089 GO:1900451 biolink:BiologicalProcess positive regulation of glutamate receptor signaling pathway Any process that activates or increases the frequency, rate or extent of glutamate receptor signaling pathway. hp.json up-regulation of glutamate signaling pathway|positive regulation of glutamate signalling pathway|up regulation of glutamate signaling pathway|up regulation of glutamate signalling pathway|positive regulation of glutamate signaling pathway|upregulation of glutamate receptor signaling pathway|up-regulation of glutamate signalling pathway|upregulation of glutamate signaling pathway|activation of glutamate signaling pathway|up regulation of glutamate receptor signaling pathway|activation of glutamate signalling pathway|upregulation of glutamate signalling pathway|up-regulation of glutamate receptor signaling pathway|activation of glutamate receptor signaling pathway http://purl.obolibrary.org/obo/GO_1900451 UBERON:0014485 biolink:AnatomicalEntity distal phalanx of digit 3 A distal phalanx that is part of a digit 3. In odd-toes ungulates (Perissodactyla e.g. horses) this is called the coffin bone. In even-toed ungulates (Artiodactyla e.g cattle) this is associated with the medial claw. hp.json digit 3 distal phalanx|medial ungual phalanx of artiodactyl|pedal bone|digit III P3|3rd digit distal phalanx|equine 3rd phalanx of digit 3|third digit distal phalanx|medial claw of artiodactyl|distal phalanx of middle digit|equine distal phalanx|distal phalanx of third digit|third distal phalanx|medial claw of ruminant hoof|coffin bone|distal phalanx of digit III|distal phalanx of 3rd digit http://purl.obolibrary.org/obo/UBERON_0014485 HP:0031085 biolink:PhenotypicFeature Decreased prealbumin level A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status. hp.json http://purl.obolibrary.org/obo/HP_0031085 GO:1900450 biolink:BiologicalProcess negative regulation of glutamate receptor signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of glutamate receptor signaling pathway. hp.json inhibition of glutamate signalling pathway|down regulation of glutamate receptor signaling pathway|inhibition of glutamate receptor signaling pathway|inhibition of glutamate signaling pathway|down-regulation of glutamate receptor signaling pathway|downregulation of glutamate signalling pathway|down-regulation of glutamate signaling pathway|negative regulation of glutamate signaling pathway|down regulation of glutamate signalling pathway|down regulation of glutamate signaling pathway|down-regulation of glutamate signalling pathway|negative regulation of glutamate signalling pathway|downregulation of glutamate receptor signaling pathway|downregulation of glutamate signaling pathway http://purl.obolibrary.org/obo/GO_1900450 UBERON:0014486 biolink:AnatomicalEntity distal phalanx of digit 4 A distal phalanx that is part of a digit 4 [Automatically generated definition]. hp.json digit 4 distal phalanx|distal phalanx of fourth digit|lateral ungual phalanx of artiodactyl|4th digit distal phalanx|lateral claw of artiodactyl|distal phalanx of 4th digit|fourth digit distal phalanx|lateral claw of ruminant hoof|fourth distal phalanx|distal phalanx of digit IV|distal phalanx of ring digit|digit IV P3 http://purl.obolibrary.org/obo/UBERON_0014486 HP:0031086 biolink:PhenotypicFeature Ectopic ovary Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels. hp.json Undescended ovary http://purl.obolibrary.org/obo/HP_0031086 UBERON:0014487 biolink:AnatomicalEntity distal phalanx of digit 5 A distal phalanx that is part of a digit 5 [Automatically generated definition]. hp.json distal phalanx of digit V|digit V P3|digit 5 distal phalanx|fifth digit distal phalanx|distal phalanx of little digit|distal phalanx of 5th digit|5th digit distal phalanx|fifth distal phalanx|distal phalanx of fifth digit http://purl.obolibrary.org/obo/UBERON_0014487 HP:0031087 biolink:PhenotypicFeature Absent pubertal growth spurt The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur. hp.json Absent adolescent growth spurt http://purl.obolibrary.org/obo/HP_0031087 UBERON:0014488 biolink:AnatomicalEntity middle phalanx of digit 2 A middle phalanx that is part of a digit 2 [Automatically generated definition]. hp.json digit 2 middle phalanx|2nd digit intermediate phalanx|second digit middle phalanx|intermediate phalanx of second digit|2nd digit of middle phalanx|intermediate phalanx of 2nd digit|digit II P2|second middle phalanx|middle phalanx of index digit|2nd digit middle phalanx|middle phalanx of second digit|middle phalanx of digit II|intermediate phalanx of digit 2|digit 2 intermediate phalanx|second digit intermediate phalanx|middle phalanx of 2nd digit|2nd digit of intermediate phalanx http://purl.obolibrary.org/obo/UBERON_0014488 HP:0031088 biolink:PhenotypicFeature Vaginal dryness Persistent vaginal dryness. hp.json http://purl.obolibrary.org/obo/HP_0031088 GO:0071345 biolink:BiologicalProcess cellular response to cytokine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071345 HP:0031092 biolink:PhenotypicFeature Spindle-shaped finger Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base). hp.json http://purl.obolibrary.org/obo/HP_0031092 HP:0031093 biolink:PhenotypicFeature Abnormal breast morphology Any anomaly of the structure of the breast. hp.json http://purl.obolibrary.org/obo/HP_0031093 GO:0046394 biolink:BiologicalProcess carboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups. hp.json carboxylic acid synthesis|carboxylic acid formation|carboxylic acid biosynthesis|carboxylic acid anabolism http://purl.obolibrary.org/obo/GO_0046394 HP:0031094 biolink:PhenotypicFeature Abnormal breast physiology Any anomaly of the function of the breast. hp.json http://purl.obolibrary.org/obo/HP_0031094 HP:0031095 biolink:PhenotypicFeature Abnormal humerus morphology Any anomaly of the structure of the humerus. hp.json http://purl.obolibrary.org/obo/HP_0031095 CHEBI:25801 biolink:ChemicalSubstance oxoproline A pyrrolidinemonocarboxylic acid consisting of proline bearing a single oxo substituent. hp.json oxoproline http://purl.obolibrary.org/obo/CHEBI_25801 3_STAR HP:0031090 biolink:PhenotypicFeature Finger dactylitis Fingers appear swollen and plump owing to inflammation of the complete finger. hp.json Sausage fingers http://purl.obolibrary.org/obo/HP_0031090 HP:0031091 biolink:PhenotypicFeature Toe dactylitis Toes appear swollen and plump owing to inflammation of the complete toe. hp.json Sausage toes http://purl.obolibrary.org/obo/HP_0031091 UBERON:0014478 biolink:AnatomicalEntity rib skeletal system Subdivision of skeletal system that consists of all ribs and rib joints in an organism. In many vertebrates this consists of the combination of the rib cage and all rib joints, but some vertebrates have ribs outside the thoracic rib cage. FMA:265719|TAO:0002100 hp.json rib skeleton|rib series|set of all ribs http://purl.obolibrary.org/obo/UBERON_0014478 HP:0031096 biolink:PhenotypicFeature Delayed vertebral ossification A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age. hp.json http://purl.obolibrary.org/obo/HP_0031096 HP:0031097 biolink:PhenotypicFeature Abnormal thyroid-stimulating hormone level Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. hp.json Abnormal thyrotropin level|Abnormal TSH level|Abnormal circulating thyrotropin concentration http://purl.obolibrary.org/obo/HP_0031097 HP:0031098 biolink:PhenotypicFeature Decreased thyroid-stimulating hormone level Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. hp.json Decreased thyrotropin level|Decreased plasma TSH http://purl.obolibrary.org/obo/HP_0031098 HP:0031099 biolink:PhenotypicFeature Abnormal circulating inhibin level Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone. hp.json http://purl.obolibrary.org/obo/HP_0031099 UBERON:0014477 biolink:AnatomicalEntity thoracic skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. EHDAA2:0002013|Wikipedia:Thoracic_skeleton|FMA:77169 hp.json thoracic part of axial skeleton|thoracic skeleton|skeleton of thorax http://purl.obolibrary.org/obo/UBERON_0014477 pheno_slim UBERON:0002492 biolink:AnatomicalEntity sagittal suture The dense, fibrous connective tissue joint between the tetrapod parietal bones. FMA:52929|MA:0002798|EMAPA:19224 hp.json sagittal suture of skull|sutura sagittalis http://purl.obolibrary.org/obo/UBERON_0002492 pheno_slim|uberon_slim UBERON:0002491 biolink:AnatomicalEntity lambdoid suture The dense, fibrous connective tissue joint between the parietal bones and the occipital bone. EMAPA:19227|MA:0002797|FMA:52933 hp.json lambdoidal suture|sutura lambdoidea|lambdoid suture of skull http://purl.obolibrary.org/obo/UBERON_0002491 pheno_slim|uberon_slim UBERON:0002490 biolink:AnatomicalEntity frontal suture A suture that connects the two frontal bones of the skull. EMAPA:35358|EMAPA:19226|FMA:52989|MA:0002796 hp.json sutura frontalis|median frontal suture|sutura frontalis|sutura metopica|frontal suture of skull|metopic suture http://purl.obolibrary.org/obo/UBERON_0002490 pheno_slim|uberon_slim CHEBI:25806 biolink:ChemicalSubstance oxygen molecular entity hp.json oxygen molecular entity|oxygen molecular entities http://purl.obolibrary.org/obo/CHEBI_25806 3_STAR UBERON:0002499 biolink:AnatomicalEntity cochlear labyrinth The labyrinth is a system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. It is named by analogy with the mythical maze that imprisoned the Minotaur, because of its appearance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted]. NCIT:C32336|FMA:61259|UMLS:C0931689|MA:0002809|EMAPA:36569|BTO:0004686 hp.json http://purl.obolibrary.org/obo/UBERON_0002499 pheno_slim|uberon_slim CHEBI:25805 biolink:ChemicalSubstance oxygen atom WebElements:O|KEGG:C00007 hp.json Sauerstoff|8O|oxygene|oxygen|O|oxygen|oxigeno http://purl.obolibrary.org/obo/CHEBI_25805 3_STAR UBERON:0002495 biolink:AnatomicalEntity long bone A long bone is a bone that has a shaft and 2 ends and is longer than it is wide. Long bones have a thick outside layer of compact bone and an inner medullary cavity containing bone marrow. The ends of a long bone contain spongy bone and an epiphyseal plate or line depending on the stage of development. The epiphyseal plate is a hyaline cartilage, where new bone growth takes place, lengthening the bone prior to adulthood. Bone lengthening ceases when this cartilage is lost, leaving a remnant referred to as an epiphyseal line. OpenCyc:Mx4rv6axr5wpEbGdrcN5Y29ycA|NCIT:C33003|FMA:7474|EMAPA:35503|BTO:0004256|MA:0002802|galen:LongBone|UMLS:C0222647 hp.json os longum http://purl.obolibrary.org/obo/UBERON_0002495 pheno_slim|uberon_slim UBERON:0002498 biolink:AnatomicalEntity deltopectoral crest A rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches. FMA:23418|EMAPA:25052|MA:0002808|AAO:0000736 hp.json deltoid tuberosity of humerus|tuberositas deltoidea humeri|pectoral process|deltoid crest|crista ventralis|tuberositas deltoidea|tuberositas deltoidea (corpus humeri)|deltoid process|deltoid impression|deltoid eminence|deltoid tuberosity|crista ventralis humeri http://purl.obolibrary.org/obo/UBERON_0002498 pheno_slim|uberon_slim UBERON:0002497 biolink:AnatomicalEntity acromion Region of the scapula where the latter meets with the clavicle: attachment point of the clavicle to the scapula in some taxa. VSAO:0005067|NCIT:C32048|GAID:187|FMA:23260|EMAPA:25119|MESH:D000174|MA:0002805|UMLS:C0001209|OpenCyc:Mx4rvmrF8pwpEbGdrcN5Y29ycA|AAO:0000826 hp.json acromion of the scapula|acromion process|acromion of scapula|scapular acromion http://purl.obolibrary.org/obo/UBERON_0002497 pheno_slim|uberon_slim HP:0031260 biolink:PhenotypicFeature Triangular tibia A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally. hp.json http://purl.obolibrary.org/obo/HP_0031260 UBERON:0002515 biolink:AnatomicalEntity periosteum The thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints. UMLS:C0031110|EMAPA:35681|MESH:D010521|FMA:24041|galen:PeriOsteum|GAID:925|MA:0002838|BTO:0001022|NCIT:C13184 hp.json http://purl.obolibrary.org/obo/UBERON_0002515 uberon_slim|pheno_slim UBERON:0002514 biolink:AnatomicalEntity intramembranous bone Bone tissue forms directly within mesenchyme, and does not replace other tissues[TAO]. Intramembranous ossification is the formation of bone in which osteoblasts secrete a collagen-proteoglycan matrix that binds calcium salts and becomes calcified[GO]. Intramembranous ossification is the way flat bones and the shell of a turtle are formed[GO]. Unlike endochondral ossification, cartilage is not present during intramembranous ossification[WP]. TAO:0001644|Wikipedia:Intramembranous_ossification|EMAPA:36615|ZFA:0001635 hp.json membrane bone|intramembranous bones http://purl.obolibrary.org/obo/UBERON_0002514 UBERON:0002517 biolink:AnatomicalEntity basicranium The base of skull is the most inferior area of the skull, composed of the endocranium and lower parts of the skull roof. MFMO:0000044|FMA:52801|MA:0002840|MESH:D019291|UMLS:C0149543|NCIT:C12493 hp.json basis cranii|base of cranium|base of skull|cranial base http://purl.obolibrary.org/obo/UBERON_0002517 uberon_slim|pheno_slim UBERON:0002516 biolink:AnatomicalEntity epiphyseal plate A hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. MESH:D006132|FMA:75427|BTO:0000412|EMAPA:35505|MA:0002839|GAID:191 hp.json epiphyseal disk|epiphysial plate|physis|cartilago epiphysialis|epiphyseal growth plate|epiphyseal growth disk|long bone epiphyseal plate|epiphyseal growth plate cartilage|lamina epiphysialis|epiphyseal cartilage|growth plate http://purl.obolibrary.org/obo/UBERON_0002516 uberon_slim|pheno_slim HP:0031265 biolink:PhenotypicFeature Abnormal glomerular visceral epithelial cell morphology Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. hp.json Abnormal podocyte morphology|Abnormal visceral epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031265 HP:0031266 biolink:PhenotypicFeature Podocyte foot process effacement An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. hp.json Loss of primary podocyte processes http://purl.obolibrary.org/obo/HP_0031266 UBERON:0014501 biolink:AnatomicalEntity proximal phalanx of digit 1 A proximal phalanx that is part of a autopod digit 1 [Automatically generated definition]. hp.json digit I-1|digit I P1|proximal phalanx of first digit of autopod|first proximal phalanx of autopod|proximal phalanx of digit I http://purl.obolibrary.org/obo/UBERON_0014501 HP:0031267 biolink:PhenotypicFeature Abnormal CD69 upregulation upon TCR activation Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. hp.json http://purl.obolibrary.org/obo/HP_0031267 UBERON:0014502 biolink:AnatomicalEntity proximal phalanx of digit 2 A proximal phalanx that is part of a autopod digit 2 [Automatically generated definition]. hp.json second proximal phalanx of autopod|2nd digit proximal phalanx|autopod digit 2 proximal phalanx|proximal phalanx of second digit|proximal phalanx of digit II|digit II-1|proximal phalanx of 2nd digit|2nd digit of autopod proximal phalanx|proximal phalanx of index digit|proximal phalanx of 2nd digit of autopod|digit IU P1|proximal phalanx of second digit of autopod|second digit proximal phalanx http://purl.obolibrary.org/obo/UBERON_0014502 UBERON:0014503 biolink:AnatomicalEntity proximal phalanx of digit 3 A proximal phalanx that is part of a autopod digit 3 [Automatically generated definition]. hp.json 3rd digit proximal phalanx|third digit proximal phalanx|proximal phalanx of middle digit|digit III-1|autopod digit 3 proximal phalanx|digit III P1|proximal phalanx of third digit|proximal phalanx of digit III|3rd digit of autopod proximal phalanx|proximal phalanx of 3rd digit|proximal phalanx of 3rd digit of autopod|proximal phalanx of third digit of autopod|third proximal phalanx of autopod http://purl.obolibrary.org/obo/UBERON_0014503 HP:0031268 biolink:PhenotypicFeature Decreased CD69 upregulation upon TCR activation Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). hp.json http://purl.obolibrary.org/obo/HP_0031268 CHEBI:62761 biolink:ChemicalSubstance tyrosine derivative An amino acid derivative resulting from reaction of tyrosine at the amino group or the carboxy group, any substitution of phenyl hydrogens, or from the replacement of any hydrogen of tyrosine by a heteroatom. The definition normally excludes peptides containing tyrosine residues. hp.json tyrosine derivatives http://purl.obolibrary.org/obo/CHEBI_62761 3_STAR HP:0031261 biolink:PhenotypicFeature Bladder polyp An abnormal growth that projects from the mucous membrane of the urinary bladder. hp.json http://purl.obolibrary.org/obo/HP_0031261 HP:0031263 biolink:PhenotypicFeature Abnormal renal corpuscle morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. hp.json http://purl.obolibrary.org/obo/HP_0031263 HP:0031264 biolink:PhenotypicFeature Abnormal Bowman capsule morphology A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. hp.json Abnormal morphology of Bowman capsule|Abnormal morphology of Bowman's capsule|Abnormal renal glomerular capsule morphology http://purl.obolibrary.org/obo/HP_0031264 CHEBI:35134 biolink:ChemicalSubstance metalloprotein COMe:PRX000002 hp.json metalloprotein|metalloproteine|metalloproteins http://purl.obolibrary.org/obo/CHEBI_35134 3_STAR CHEBI:35137 biolink:ChemicalSubstance hemoprotein Conjugated proteins containing heme as the prosthetic group. COMe:PRX000008 hp.json haem protein|haemoprotein|Haemoprotein|Haemprotein|hemeproteins|hemoproteins|hemoprotein|heme protein http://purl.obolibrary.org/obo/CHEBI_35137 3_STAR CHEBI:35136 biolink:ChemicalSubstance iron protein COMe:PRX000004 hp.json iron protein|iron-containing proteins|iron proteins http://purl.obolibrary.org/obo/CHEBI_35136 3_STAR HP:0031269 biolink:PhenotypicFeature Abnormal CD25 upregulation upon TCR activation Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression. hp.json http://purl.obolibrary.org/obo/HP_0031269 UBERON:0002522 biolink:AnatomicalEntity tunica media The middle layer of an artery or vein. [WP,unvetted]. FMA:55590|GAID:170|SCTID:61695000|MESH:D017540|UMLS:C0162867|Wikipedia:Tunica_media|BTO:0002011|MA:0002855|NCIT:C33821|EMAPA:36298 hp.json tunica media vasorum|tunica media vasorum|tunica media vasorum http://purl.obolibrary.org/obo/UBERON_0002522 uberon_slim HP:0006298 biolink:PhenotypicFeature Prolonged bleeding after dental extraction Prolonged bleeding post dental extraction sufficient to require medical intervention. UMLS:C1969572 hp.json Prolonged bleeding after dental extraction http://purl.obolibrary.org/obo/HP_0006298 UBERON:0002521 biolink:AnatomicalEntity elastic tissue Connective tissue composed of elastic fibers. MESH:D004547|GAID:926|NCIT:C32495|SCTID:27197004|FMA:20113|Wikipedia:Elastic_fiber|MA:0002853 hp.json elastic connective tissue|textus connectivus elasticus|elastic fiber http://purl.obolibrary.org/obo/UBERON_0002521 uberon_slim UBERON:0002523 biolink:AnatomicalEntity tunica intima The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. EMAPA:36297|NCIT:C33820|MESH:D017539|MA:0002861|FMA:55589|UMLS:C0162864|BTO:0002012|SCTID:87483006|SCTID:8361002|GAID:523|Wikipedia:Tunica_intima hp.json Bichat's tunic|intima|tunica intima vasorum http://purl.obolibrary.org/obo/UBERON_0002523 uberon_slim HP:0006297 biolink:PhenotypicFeature Enamel hypoplasia Developmental hypoplasia of the dental enamel. UMLS:C4280457|UMLS:C4280456|SNOMEDCT_US:699382004|UMLS:C0011351|SNOMEDCT_US:699421005|MSH:D003744|UMLS:C1851854|SNOMEDCT_US:26597004 hp.json Enamel dysplasia|Hypoplasia of dental enamel|Defective enamel matrix|Thin tooth enamel|Dysplasia of tooth enamel|Enamel hypotrophy|Enamel, underdeveloped|Thin dental enamel|Underdeveloped teeth enamel|Dental enamel hypoplasia|Hypoplasia of tooth enamel http://purl.obolibrary.org/obo/HP_0006297 CHEBI:37793 biolink:ChemicalSubstance amino sulfonic acid An organosulfonic acid containing one or more amino groups. hp.json amino sulfonic acids|aminosulfonic acid|aminosulfonic acids http://purl.obolibrary.org/obo/CHEBI_37793 3_STAR UBERON:0002507 biolink:AnatomicalEntity abdominal lymph node A lymph node that is part of an abdomen [Automatically generated definition]. EMAPA:35992|FMA:12787|MA:0002827 hp.json abdomen lymph node|parietal abdominal lymph node|lymph node of abdomen http://purl.obolibrary.org/obo/UBERON_0002507 pheno_slim HP:0031270 biolink:PhenotypicFeature Decreased CD25 upregulation upon TCR activation Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR). hp.json Poor CD25 upregulation upon TCR activation|Reduced IL2RA upregulation upon TCR activation http://purl.obolibrary.org/obo/HP_0031270 UBERON:0002509 biolink:AnatomicalEntity mesenteric lymph node The lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group. UMLS:C0229792|FMA:12795|EMAPA:35561|BTO:0000767|NCIT:C77641|MA:0002829 hp.json nodi lymphoidei mesenterici|mesenteric node http://purl.obolibrary.org/obo/UBERON_0002509 pheno_slim HP:0031271 biolink:PhenotypicFeature Absent ankle pulse The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination. hp.json http://purl.obolibrary.org/obo/HP_0031271 UBERON:0002504 biolink:AnatomicalEntity lesser trochanter The lesser trochanter (small trochanter) of the femur is a conical eminence, which varies in size in different subjects [WP,unvetted]. MA:0002823|NCIT:C32982|UMLS:C0223866|FMA:32853|EMAPA:37595|galen:LesserTrochanter hp.json trochanter minor|lesser trochanter of femur http://purl.obolibrary.org/obo/UBERON_0002504 uberon_slim|pheno_slim UBERON:0002503 biolink:AnatomicalEntity greater trochanter The greater trochanter (great trochanter) of the femur is a large, irregular, quadrilateral eminence and a part of the skeletal system. It is directed a little lateralward and backward, and, in the adult, is about 1 cm lower than the head. Because the pelvic outlet in the female is larger than in the male, there is a greater distance between the greater trochanters in the female. It has two surfaces and four borders. [WP,unvetted]. MA:0002822|NCIT:C32698|galen:GreaterTrochanter|UMLS:C0223865|FMA:32852|EMAPA:37594 hp.json great trochanter|greater trochanter of femur|trochanter major http://purl.obolibrary.org/obo/UBERON_0002503 uberon_slim UBERON:0002506 biolink:AnatomicalEntity iris epithelium An epithelium that is part of a iris [Automatically generated definition]. FMA:58517|EMAPA:35447|MA:0002826 hp.json iris pigmented epithelium|pigmented epithelium of iris|iris epithelium|epithelium pigmentosum iridis|iris epithelial tissue|epithelium pigmentosum (iris)|epithelial tissue of iris|epithelium of iris http://purl.obolibrary.org/obo/UBERON_0002506 pheno_slim|human_reference_atlas HP:0031276 biolink:PhenotypicFeature Obstructive shock A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism). hp.json http://purl.obolibrary.org/obo/HP_0031276 HP:0031278 biolink:PhenotypicFeature Abnormal thoracic duct morphology Any structural anomaly of the thoracic duct. hp.json http://purl.obolibrary.org/obo/HP_0031278 HP:0031279 biolink:PhenotypicFeature Abnormal response to gonadotropin-releasing hormone stimulation test An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). hp.json Abnormal response to GnRH stimulation test http://purl.obolibrary.org/obo/HP_0031279 HP:0031272 biolink:PhenotypicFeature Pulmonary arterial atherosclerosis Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery. hp.json http://purl.obolibrary.org/obo/HP_0031272 HP:0031273 biolink:PhenotypicFeature Shock The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury. hp.json http://purl.obolibrary.org/obo/HP_0031273 HP:0031274 biolink:PhenotypicFeature Hypovolemic shock A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures. hp.json http://purl.obolibrary.org/obo/HP_0031274 HP:0031275 biolink:PhenotypicFeature Distributive shock A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage hp.json http://purl.obolibrary.org/obo/HP_0031275 UBERON:0002510 biolink:AnatomicalEntity anterior fontanel In humans, the anterior fontanelle (bregmatic fontanelle, frontal fontanelle) is the largest, and is placed at the junction of the sagittal suture, coronal suture, and frontal suture; it is lozenge-shaped, and measures about 4 cm in its antero-posterior and 2.5 cm in its transverse diameter. The fontanelle allows the skull to deform during birth to ease its passage through the birth canal and for expansion of the brain after birth. While the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior is not completely closed until about the middle of the second year. Full ossification starts in the late twenties and finishes before the age of 50 . [WP,unvetted]. MA:0002830|FMA:75439|EMAPA:19199 hp.json anterior fontanelle|frontal fontanelle|fonticulus anterior|bregmatic fontanelle http://purl.obolibrary.org/obo/UBERON_0002510 pheno_slim UBERON:0002513 biolink:AnatomicalEntity endochondral bone Replacement bone that forms within cartilage. EHDAA2:0003083|XAO:0004018|AEO:0000083|AAO:0010776|ZFA:0001591|TAO:0001591|BTO:0002157|VSAO:0000145|FMA:24321 hp.json cartilaginous bone|endochondral bones|ossified chondrogenic bone http://purl.obolibrary.org/obo/UBERON_0002513 vertebrate_core|uberon_slim CHEBI:35143 biolink:ChemicalSubstance hemoglobin COMe:PRX000321 hp.json hemoglobin|vertebrate haemoglobin|haemoglobin http://purl.obolibrary.org/obo/CHEBI_35143 3_STAR CHEBI:25798 biolink:ChemicalSubstance oxopentanoates The conjugate base of any oxopentanoic acid. hp.json oxopentanoate http://purl.obolibrary.org/obo/CHEBI_25798 3_STAR HP:0031280 biolink:PhenotypicFeature Increased LH response to gonadotropin-releasing hormone stimulation test An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test. hp.json http://purl.obolibrary.org/obo/HP_0031280 HP:0006280 biolink:PhenotypicFeature Chronic pancreatitis A chronic form of pancreatitis. MSH:D050500|UMLS:C0149521|SNOMEDCT_US:235494005|SNOMEDCT_US:234689009|SNOMEDCT_US:233870001 hp.json Chronic pancreas inflammation http://purl.obolibrary.org/obo/HP_0006280 HP:0031281 biolink:PhenotypicFeature Sialadenitis Inflammation of a salivary gland. hp.json http://purl.obolibrary.org/obo/HP_0031281 HP:0031282 biolink:PhenotypicFeature Malalignment of the great toenail A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges. hp.json http://purl.obolibrary.org/obo/HP_0031282 HP:0006282 biolink:PhenotypicFeature Generalized hypoplasia of dental enamel A generalized form of developmental hypoplasia of the dental enamel. UMLS:C4025070|UMLS:C4280462 hp.json Generalized hypoplasia of tooth enamel|Generalised hypoplasia of tooth enamel|Generalised dysplasia of tooth enamel|Generalized dysplasia of tooth enamel|Generalised hypoplasia of dental enamel http://purl.obolibrary.org/obo/HP_0006282 CHEBI:25799 biolink:ChemicalSubstance oxopentanoic acid A C5 fatty acid carrying an oxo group at any position. hp.json oxopentanoic acid|oxovaleric acid http://purl.obolibrary.org/obo/CHEBI_25799 3_STAR HP:0031287 biolink:PhenotypicFeature Seborrheic keratosis A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look. hp.json Senile wart|Basal cell papilloma|Seborrheic verruca http://purl.obolibrary.org/obo/HP_0031287 HP:0031288 biolink:PhenotypicFeature Cobblestone-like hyperkeratosis The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. hp.json http://purl.obolibrary.org/obo/HP_0031288 HP:0031289 biolink:PhenotypicFeature White papule A papule with white color. hp.json http://purl.obolibrary.org/obo/HP_0031289 HP:0031283 biolink:PhenotypicFeature Tufted hairs The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice. hp.json http://purl.obolibrary.org/obo/HP_0031283 HP:0031284 biolink:PhenotypicFeature Flushing Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. hp.json http://purl.obolibrary.org/obo/HP_0031284 HP:0031285 biolink:PhenotypicFeature Abnormal perifollicular morphology Any structural anomaly in the areas surrounding the hair follicles. hp.json http://purl.obolibrary.org/obo/HP_0031285 HP:0031286 biolink:PhenotypicFeature Perifollicular erythema Redness surrounding the hair follicles. hp.json http://purl.obolibrary.org/obo/HP_0031286 UBERON:0002500 biolink:AnatomicalEntity zygomatic arch The bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone. MA:0002810|OpenCyc:Mx4rvih1YZwpEbGdrcN5Y29ycA|MESH:D015050|NCIT:C33897|EMAPA:36570|galen:Zygoma|MFMO:0000108|UMLS:C0162485|FMA:53120 hp.json zygoma|arcus zygomaticus http://purl.obolibrary.org/obo/UBERON_0002500 pheno_slim|uberon_slim HP:0006276 biolink:PhenotypicFeature Hyperechogenic pancreas UMLS:C1857945 hp.json http://purl.obolibrary.org/obo/HP_0006276 HP:0006277 biolink:PhenotypicFeature Pancreatic hyperplasia Hyperplasia of the pancreas. UMLS:C1851733 hp.json http://purl.obolibrary.org/obo/HP_0006277 HP:0006278 biolink:PhenotypicFeature Ectopic pancreatic tissue The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut. SNOMEDCT_US:264304000|UMLS:C0994638 hp.json Abnormal pancreas location http://purl.obolibrary.org/obo/HP_0006278 HP:0006279 biolink:PhenotypicFeature Beta-cell dysfunction UMLS:C1969875 hp.json http://purl.obolibrary.org/obo/HP_0006279 HP:0006273 biolink:PhenotypicFeature Pancreatic lymphangiectasis The presence of lymphangiectasis in the pancreas. UMLS:C1856162 hp.json http://purl.obolibrary.org/obo/HP_0006273 HP:0006274 biolink:PhenotypicFeature Reduced pancreatic beta cells Reduced number of beta cells in the pancreatic islets of Langerhans. UMLS:C1856904 hp.json http://purl.obolibrary.org/obo/HP_0006274 HP:0031290 biolink:PhenotypicFeature Tuberous xanthoma A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes. hp.json http://purl.obolibrary.org/obo/HP_0031290 HP:0006290 biolink:PhenotypicFeature Discolored lateral incisors The presence of discolored lateral incisors. UMLS:C1866510|UMLS:C4280459 hp.json Discoloured lateral incisors|Abnormality of colour of lateral incisor|Abnormality of color of lateral incisor|Abnormality of colour of front teeth|Discolored front teeth|Abnormality of color of front teeth|Discoloured front teeth|Abnormality of shade of lateral incisor http://purl.obolibrary.org/obo/HP_0006290 HP:0031291 biolink:PhenotypicFeature Ichthyosis follicularis Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. hp.json http://purl.obolibrary.org/obo/HP_0031291 HP:0006291 biolink:PhenotypicFeature Marked delay in eruption of permanent teeth UMLS:C1863009 hp.json Severe delay of eruption of permanent teeth|Very late eruption of permanent teeth|Very late eruption of adult teeth|Severe delay of eruption of adult teeth http://purl.obolibrary.org/obo/HP_0006291 HP:0031292 biolink:PhenotypicFeature Cutaneous abscess A circumscribed area of pus or necrotic debris in the skin. hp.json Skin abscess http://purl.obolibrary.org/obo/HP_0031292 HP:0006292 biolink:PhenotypicFeature Abnormality of dental eruption An abnormality of tooth eruption. SNOMEDCT_US:1086101000119107|SNOMEDCT_US:234949000|UMLS:C0012767|UMLS:C1859363|UMLS:C3874458 hp.json Disturbance of dental eruption|Abnormal dental eruption|Disorder of dental eruption|Anomaly of tooth eruption|Disturbance of tooth eruption|Anomaly of dental eruption|Disorder of tooth eruption|Abnormality of tooth eruption http://purl.obolibrary.org/obo/HP_0006292 HP:0031293 biolink:PhenotypicFeature Digital pitting scar Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. hp.json http://purl.obolibrary.org/obo/HP_0031293 HP:0006293 biolink:PhenotypicFeature Agenesis of maxillary central incisor Agenesis of upper secondary incisor or of upper central primary incisor. UMLS:C4025068|UMLS:C4280458 hp.json Absence of maxillary central incisor|Missing maxillary central incisor|Failure of development of maxillary central incisor|Missing upper central incisor http://purl.obolibrary.org/obo/HP_0006293 CHEBI:50745 biolink:ChemicalSubstance progestogen A compound that interacts with progesterone receptors in target tissues to bring about effects similar to those of progesterone. hp.json gestagens|gestagen|progestagen|progestagens|progestogens http://purl.obolibrary.org/obo/CHEBI_50745 3_STAR HP:0031298 biolink:PhenotypicFeature Coronary sinus enlargement Abnormal increase in size of the coronary sinus. hp.json Enlarged coronary sinus|Coronary sinus dilatation http://purl.obolibrary.org/obo/HP_0031298 HP:0031299 biolink:PhenotypicFeature Elevated left atrial pressure An abnormal increase in magnitude of the pressure in the left atrium. hp.json http://purl.obolibrary.org/obo/HP_0031299 CHEBI:50748 biolink:ChemicalSubstance antipsoriatic A drug used to treat psoriasis. hp.json antipsoriatic agent|antipsoriatic drug http://purl.obolibrary.org/obo/CHEBI_50748 3_STAR HP:0031294 biolink:PhenotypicFeature Hypoplastic right atrium Underdeveloped, small right heart atrium. hp.json http://purl.obolibrary.org/obo/HP_0031294 HP:0031295 biolink:PhenotypicFeature Left atrial enlargement Increase in size of the left atrium. Fyler:3011|Fyler:3020 hp.json Enlarged heart left atrium http://purl.obolibrary.org/obo/HP_0031295 HP:0031296 biolink:PhenotypicFeature Atrial septal hypertrophy An abnormal increase in the thickness of the atrial septum. hp.json http://purl.obolibrary.org/obo/HP_0031296 HP:0031297 biolink:PhenotypicFeature Unroofed coronary sinus Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion. hp.json http://purl.obolibrary.org/obo/HP_0031297 CHEBI:37786 biolink:ChemicalSubstance acyclic phosphorus acid anhydride hp.json acyclic phosphorus acid anhydrides http://purl.obolibrary.org/obo/CHEBI_37786 3_STAR HP:0006288 biolink:PhenotypicFeature Advanced eruption of teeth Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. UMLS:C0266054|SNOMEDCT_US:16000003 hp.json Early eruption of teeth|Premature eruption of teeth|Premature tooth eruption|Early dental eruption|Advanced dental eruption|Eruption, advanced|Advanced tooth eruption|Premature dental eruption http://purl.obolibrary.org/obo/HP_0006288 HP:0006289 biolink:PhenotypicFeature Agenesis of central incisor Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. UMLS:C1855000|UMLS:C4020819 hp.json Missing central incisors|Absent central incisors|Failure of development of central incisor|Absent central incisor http://purl.obolibrary.org/obo/HP_0006289 HP:0006283 biolink:PhenotypicFeature Multiple unerupted teeth The presence of multiple embedded tooth germs which have failed to erupt. UMLS:C4025069 hp.json Failure of eruption of multiple teeth|Multiple non-erupting teeth|Multiple unerupted teeth http://purl.obolibrary.org/obo/HP_0006283 HP:0006285 biolink:PhenotypicFeature Enamel hypomineralization A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. SNOMEDCT_US:109487003|UMLS:C4280253|UMLS:C3665628|UMLS:C4280461|UMLS:C4280460 hp.json Decreased enamel mineralisation|Mottled tooth enamel|Fluorosis of tooth enamel|Poorly mineralized tooth enamel|Increased porosity of tooth enamel|White spot lesions of tooth enamel|Hypomineralization of enamel http://purl.obolibrary.org/obo/HP_0006285 HP:0006286 biolink:PhenotypicFeature Yellow-brown discoloration of the teeth UMLS:C1863008 hp.json Yellow-brown tooth shade|Yellow-brown discoloration of the teeth|Yellow-brown discolored teeth|Yellow-brown discoloured teeth http://purl.obolibrary.org/obo/HP_0006286 CHEBI:23117 biolink:ChemicalSubstance chlorine molecular entity A halogen molecular entity containing one or more atoms of chlorine. hp.json http://purl.obolibrary.org/obo/CHEBI_23117 3_STAR UBERON:0002558 biolink:AnatomicalEntity organ cavity BIRNLEX:1019|FMA:12237|SCTID:362606005 hp.json cavity of organ http://purl.obolibrary.org/obo/UBERON_0002558 upper_level CHEBI:50733 biolink:ChemicalSubstance nutraceutical A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance. hp.json Nutritional supplement|Dietary Supplement|Food Supplementation http://purl.obolibrary.org/obo/CHEBI_50733 3_STAR CHEBI:23116 biolink:ChemicalSubstance chlorine atom WebElements:Cl hp.json chlore|Cl|Chlor|chlorine|chlorine|cloro|chlorum|17Cl http://purl.obolibrary.org/obo/CHEBI_23116 3_STAR HP:0033884 biolink:PhenotypicFeature Abnormal cortical radial artery lumen morphology Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. hp.json Abnormal interlobular arterial lumen morphology http://purl.obolibrary.org/obo/HP_0033884 HP:0031221 biolink:PhenotypicFeature Abnormal radioactive iodine uptake test result Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. hp.json http://purl.obolibrary.org/obo/HP_0031221 HP:0033883 biolink:PhenotypicFeature Abnormal cortical radial artery morphology Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. hp.json Abnormal interlobular artery morphology http://purl.obolibrary.org/obo/HP_0033883 HP:0031222 biolink:PhenotypicFeature Increased circulating thyroxine-binding globulin level An elevated concentration of thyroxine-binding globulin (TBG) in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031222 HP:0033886 biolink:PhenotypicFeature Abnormal arcuate artery intima/media morphology Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. hp.json Abnormalities of the arcuate arterial intima/media http://purl.obolibrary.org/obo/HP_0033886 HP:0031223 biolink:PhenotypicFeature Focal pancreatic islet hyperplasia Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others. hp.json http://purl.obolibrary.org/obo/HP_0031223 HP:0031224 biolink:PhenotypicFeature Diffuse pancreatic islet hyperplasia Hyperplasia of the islets of Langerhans with a generalized distribution. hp.json http://purl.obolibrary.org/obo/HP_0031224 UBERON:0014547 biolink:AnatomicalEntity sacral division of spinal cord central canal Part of spinal cord central canal contained in the sacral spinal cord. It is continuous rostrally with the spinal cord central canal of the lumbar cord. FMA:321696|NLXANAT:1010008 hp.json sacral spinal cord central canal|lumbosacral spinal cord central canal http://purl.obolibrary.org/obo/UBERON_0014547 HP:0033885 biolink:PhenotypicFeature Cortical radial artery lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp.json http://purl.obolibrary.org/obo/HP_0033885 UBERON:0014540 biolink:AnatomicalEntity white matter lamina of cerebellum The white laminae of cerebellum is subdivision of the cerebellar cortex comprised of myelinated axons lying deep to the granule cell layer of the cerebellar cortex. BIRNLEX:1105|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=163|UMLS:C0228472 hp.json white laminae of cerebellum|isthmus gyri cingulatus|white lamina of cerebellum|laminae albae of cerebellar cortex|laminae albae of cerebellar cortex|isthmus of the cingulate gyrus|isthmus of gyrus fornicatus|isthmus-2|lamina alba of cerebellar cortex|isthmus cinguli|isthmus gyri cinguli http://purl.obolibrary.org/obo/UBERON_0014540 PATO:0000569 biolink:NamedThing decreased height A height which is relatively low. hp.json short http://purl.obolibrary.org/obo/PATO_0000569 value_slim HP:0033880 biolink:PhenotypicFeature Arcuate vein intimal mucoid edema Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. hp.json Intimal mucoid edema within arcuate veins http://purl.obolibrary.org/obo/HP_0033880 UBERON:0014541 biolink:AnatomicalEntity thoracic division of spinal cord central canal Part of spinal cord central canal contained in the thoracic spinal cord. It is continuous rostrally with the cervical spinal cord central canal and caudally with the lumbar spinal cord central canal. FMA:321588|UMLS:C0228637|BIRNLEX:1395 hp.json thoracic spinal cord central canal http://purl.obolibrary.org/obo/UBERON_0014541 UBERON:0014542 biolink:AnatomicalEntity cervical division of cord spinal central canal Part of central canal contained within the cervical spinal cord. It is continuous caudally with the thoracic spinal cord central canal and rostrally with the fourth ventricle of the brain via the obex. UMLS:C0228620|BIRNLEX:1511|FMA:321590 hp.json cervical spinal cord central canal http://purl.obolibrary.org/obo/UBERON_0014542 HP:0033882 biolink:PhenotypicFeature Arcuate vein intima/medial amyloidosis Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. hp.json Amyloidosis within arcuate vein intima/media http://purl.obolibrary.org/obo/HP_0033882 HP:0033881 biolink:PhenotypicFeature Arcuate vein intimal/medial myxomatous degeneration Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. hp.json Myxomatous change within arcuate vein intima/media http://purl.obolibrary.org/obo/HP_0033881 UBERON:0014543 biolink:AnatomicalEntity lumbar division of spinal cord central canal Part of central canal lying within the lumbar spinal cord. It is continuous rostrally with the central canal of the thoracic spinal cord and caudally with the central canal of the sacral spinal cord. BIRNLEX:1604|FMA:321589|UMLS:C0228644 hp.json lumbar spinal cord central canal http://purl.obolibrary.org/obo/UBERON_0014543 HP:0031220 biolink:PhenotypicFeature Increased radioactive iodine uptake An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. hp.json http://purl.obolibrary.org/obo/HP_0031220 HP:0031229 biolink:PhenotypicFeature Increased incisura length The length of the incisura from the upper to lower border is greater than that observed in the average population. hp.json http://purl.obolibrary.org/obo/HP_0031229 HP:0033888 biolink:PhenotypicFeature Abnormal cortical radial artery intima/media morphology Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. hp.json Abnormalities of the interlobular arterial intima/media http://purl.obolibrary.org/obo/HP_0033888 HP:0031225 biolink:PhenotypicFeature Intrapulmonary shunt Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs. hp.json Intrapulmonary shunting http://purl.obolibrary.org/obo/HP_0031225 HP:0031226 biolink:PhenotypicFeature Perinephric fluid collection An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography. hp.json http://purl.obolibrary.org/obo/HP_0031226 HP:0033887 biolink:PhenotypicFeature Cortical radial artery intimal/medial amyloidosis Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy hp.json Amyloidosis within interlobular arterial intima/media|Interlobular arterial intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033887 UBERON:0014538 biolink:AnatomicalEntity subdivision of spinal cord central canal A subdivision of the central canal of the spinal cord along its anterior-posterior axis. This is typically subdivided into cervical, thoracic, lumbar and sacral segments. BIRNLEX:717 hp.json regional part of spinal cord central canal http://purl.obolibrary.org/obo/UBERON_0014538 non_informative HP:0031227 biolink:PhenotypicFeature Nasopharyngeal teratoma A teratoma arising in the nasopharyngeal region. hp.json http://purl.obolibrary.org/obo/HP_0031227 NBO:0002169 biolink:NamedThing regulation of consumption behavior "Any process that modulates the frequency, rate or extent of consumption behavior, the specific actions or reactions of an organism in response to external or internal stimuli." [NBOC:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0002169 HP:0033889 biolink:PhenotypicFeature Abnormal renal arteriole morphology Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. hp.json http://purl.obolibrary.org/obo/HP_0033889 HP:0031228 biolink:PhenotypicFeature Abnormal incisura morphology An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. hp.json http://purl.obolibrary.org/obo/HP_0031228 UBERON:0002567 biolink:AnatomicalEntity basal part of pons Ventral subdivision of the pons which consists of the massive pontine pertuberance on pontine ventral surface. FMA:72244|BAMS:Bpons|DHBA:12405|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=616|UMLS:C0228427|BIRNLEX:1043|HBA:9132 hp.json base of pons|basis pontis|pons proper|ventral portion of pons|basilar part of pons|pars ventralis pontis|pars anterior pontis|basal part of the pons|basal portion of pons|pars basilaris pontis|ventral pons|basilar pons http://purl.obolibrary.org/obo/UBERON_0002567 pheno_slim CHEBI:74783 biolink:ChemicalSubstance astringent A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions. Wikipedia:Astringent hp.json adstringent|adstringents|astringents http://purl.obolibrary.org/obo/CHEBI_74783 3_STAR UBERON:0002561 biolink:AnatomicalEntity lumen of central nervous system The cavity that is enclosed by the central nervous system. In vertebrates this is the cavity that includes as parts ventricular cavities and the central canal of the spinal cord that develops from the lumen of the neura tube. BIRNLEX:1029|FMA:75007 hp.json cavity of ventricular system of neuraxis|neuraxis lumen|cavity of neuraxis|neuraxis cavity http://purl.obolibrary.org/obo/UBERON_0002561 HP:0031232 biolink:PhenotypicFeature Increased incisura width Breadth of the incisura from the anterior to posterior border greater than that observed in the average population. hp.json http://purl.obolibrary.org/obo/HP_0031232 HP:0033895 biolink:PhenotypicFeature Abnormal renal arteriole endothelium morphology Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033895 HP:0031233 biolink:PhenotypicFeature Horizontal inferior border of scapula A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). hp.json Squaring of the scapula|Squaring of the inferior scapulae http://purl.obolibrary.org/obo/HP_0031233 HP:0033894 biolink:PhenotypicFeature Renal arteriolar intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033894 UBERON:6003005 biolink:AnatomicalEntity insect adult tagma Any tagma (UBERON:6000002) that is part of some adult (UBERON:6003004). FBbt:00003005 hp.json http://purl.obolibrary.org/obo/UBERON_6003005 GO:0046534 biolink:BiologicalProcess positive regulation of photoreceptor cell differentiation Any process that activates or increases the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster. hp.json up regulation of photoreceptor cell differentiation|stimulation of photoreceptor cell differentiation|up-regulation of photoreceptor cell differentiation|up-regulation of photoreceptor differentiation|activation of photoreceptor cell differentiation|up regulation of photoreceptor differentiation|positive regulation of photoreceptor differentiation|activation of photoreceptor differentiation|upregulation of photoreceptor cell differentiation|stimulation of photoreceptor differentiation|upregulation of photoreceptor differentiation http://purl.obolibrary.org/obo/GO_0046534 HP:0031234 biolink:PhenotypicFeature Neutrophilic infiltration of the skin A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin). hp.json http://purl.obolibrary.org/obo/HP_0031234 HP:0033897 biolink:PhenotypicFeature Arcuate artery lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp.json Cholesterol emboli within arcuate arterial lumen http://purl.obolibrary.org/obo/HP_0033897 GO:0046533 biolink:BiologicalProcess negative regulation of photoreceptor cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster. hp.json down regulation of photoreceptor differentiation|inhibition of photoreceptor differentiation|downregulation of photoreceptor cell differentiation|downregulation of photoreceptor differentiation|down regulation of photoreceptor cell differentiation|inhibition of photoreceptor cell differentiation|down-regulation of photoreceptor cell differentiation|down-regulation of photoreceptor differentiation|negative regulation of photoreceptor differentiation http://purl.obolibrary.org/obo/GO_0046533 HP:0031235 biolink:PhenotypicFeature Predominantly epidermal neutrophilic infiltrate Collection of neutrophils in the epidermis. hp.json http://purl.obolibrary.org/obo/HP_0031235 CHEBI:84118 biolink:ChemicalSubstance ganglioside GM3 A sialodiaosylceramide that is an alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-N-acylsphingosine in which the acyl group on nitrogen is (15Z)-tetracos-15-enoyl. PMID:24362891 hp.json (2S,3R,4E)-3-hydroxy-2-[(15Z)-tetracos-15-enoylamino]octadec-4-en-1-yl 5-acetamido-3,5-dideoxy-D-glycero-alpha-D-galacto-non-2-ulopyranonosyl-(2->3)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranoside|monosialoganglioside GM3|G(M3) ganglioside|monosialodihexosylganglioside|alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-N-(15Z)-tetracos-15-enoylsphingosine|NANA-Gal-Glc-ceramide|alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-N-cis-tetracos-15-enoylsphingosine|GM3 http://purl.obolibrary.org/obo/CHEBI_84118 3_STAR HP:0033896 biolink:PhenotypicFeature Abnormal arcuate artery lumen morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. hp.json Abnormalities of the arcuate arterial lumen http://purl.obolibrary.org/obo/HP_0033896 GO:0046532 biolink:BiologicalProcess regulation of photoreceptor cell differentiation Any process that modulates the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster. hp.json regulation of photoreceptor differentiation http://purl.obolibrary.org/obo/GO_0046532 HP:0033891 biolink:PhenotypicFeature Renal arteriolar lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp.json Cholesterol emboli within the arteriolar lumen http://purl.obolibrary.org/obo/HP_0033891 UBERON:0014530 biolink:AnatomicalEntity white matter lamina of neuraxis FMA:83856 hp.json neuraxis lamina|lamina of neuraxis http://purl.obolibrary.org/obo/UBERON_0014530 HP:0033890 biolink:PhenotypicFeature Abnormal renal arteriole lumen morphology Abnormal structural characteristics of the interior space (lumen) of renal arterioles. hp.json http://purl.obolibrary.org/obo/HP_0033890 GO:0046530 biolink:BiologicalProcess photoreceptor cell differentiation The specialization of organization of a photoreceptor, a cell that responds to incident electromagnetic radiation, particularly visible light. An example of this process is found in Drosophila melanogaster. hp.json http://purl.obolibrary.org/obo/GO_0046530 UBERON:0014531 biolink:AnatomicalEntity white matter lamina of diencephalon FMA:62449 hp.json lamina of diencephalon|diencephalon lamina http://purl.obolibrary.org/obo/UBERON_0014531 HP:0031230 biolink:PhenotypicFeature Decreased incisura length The length of the incisura from the upper to lower border is less than that observed in the average population. hp.json http://purl.obolibrary.org/obo/HP_0031230 HP:0033893 biolink:PhenotypicFeature Renal arteriolar lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033893 HP:0033892 biolink:PhenotypicFeature Abnormal renal arteriole intima/media morphology Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033892 UBERON:0014532 biolink:AnatomicalEntity white matter lamina of cerebral hemisphere FMA:67951 hp.json cerebral hemisphere lamina|lamina of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0014532 UBERON:6003007 biolink:AnatomicalEntity insect adult head Head of the adult organism. FBbt:00003007 hp.json http://purl.obolibrary.org/obo/UBERON_6003007 HP:0031231 biolink:PhenotypicFeature Narrow incisura width Width of the incisura from the anterior to posterior border less than that observed in the average population. hp.json http://purl.obolibrary.org/obo/HP_0031231 PATO:0000570 biolink:NamedThing increased height A height which is relatively high. hp.json tall http://purl.obolibrary.org/obo/PATO_0000570 value_slim CHEBI:35106 biolink:ChemicalSubstance nitrogen hydride hp.json nitrogen hydrides http://purl.obolibrary.org/obo/CHEBI_35106 3_STAR HP:0033899 biolink:PhenotypicFeature Arcuate artery lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. hp.json Organized thrombi within arcuate arterial lumen http://purl.obolibrary.org/obo/HP_0033899 HP:0031236 biolink:PhenotypicFeature Predominantly dermal neutrophilic infiltrate Collection of neutrophils in the dermis. hp.json http://purl.obolibrary.org/obo/HP_0031236 HP:0031237 biolink:PhenotypicFeature Internally nucleated skeletal muscle fibers An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. hp.json Internally nucleated skeletal muscle fibres http://purl.obolibrary.org/obo/HP_0031237 HP:0033898 biolink:PhenotypicFeature Arcuate artery intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. hp.json Intraluminal thrombi within arcuate arterial lumen http://purl.obolibrary.org/obo/HP_0033898 PATO:0000574 biolink:NamedThing decreased length A length quality which is relatively small. hp.json stubby|shortened|short http://purl.obolibrary.org/obo/PATO_0000574 value_slim HP:0031238 biolink:PhenotypicFeature Necklace skeletal muscle fibers A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. hp.json Necklace skeletal muscle fibres http://purl.obolibrary.org/obo/HP_0031238 HP:0031239 biolink:PhenotypicFeature Extrafoveal choroidal neovascularization A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea. hp.json http://purl.obolibrary.org/obo/HP_0031239 PATO:0000573 biolink:NamedThing increased length A length quality which is relatively large. hp.json long http://purl.obolibrary.org/obo/PATO_0000573 value_slim CHEBI:35107 biolink:ChemicalSubstance azane Saturated acyclic nitrogen hydrides having the general formula NnHn+2. hp.json azanes http://purl.obolibrary.org/obo/CHEBI_35107 3_STAR UBERON:0002553 biolink:AnatomicalEntity anatomical cavity Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. galen:Cavity|EMAPA:37442|FMA:67552|MA:0002447|NCIT:C34007|BIRNLEX:1011 hp.json cavity http://purl.obolibrary.org/obo/UBERON_0002553 upper_level CHEBI:25754 biolink:ChemicalSubstance oxo carboxylic acid Any compound that has an aldehydic or ketonic group as well as a carboxylic acid group in the same molecule. hp.json oxo acids|oxo carboxylic acids|oxo carboxylic acids http://purl.obolibrary.org/obo/CHEBI_25754 3_STAR UBERON:0002536 biolink:AnatomicalEntity arthropod sensillum Sense organ embedded in the integument and consisting of one or a cluster of sensory neurons and associated sensory structures, support cells and glial cells forming a single organised unit with a largely bona-fide boundary.[FBbt]. BTO:0001237|Wikipedia:Sensillum|HAO:0000933|MAT:0000163|FBbt:00007152|EFO:0000939|MIAA:0000163|TGMA:0000540 hp.json sensillum http://purl.obolibrary.org/obo/UBERON_0002536 efo_slim|uberon_slim UBERON:0002539 biolink:AnatomicalEntity pharyngeal arch One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. SCTID:308766004|AAO:0010359|NCIT:C34249|Wikipedia:Pharyngeal_arch|UMLS:C0080322|MESH:A16.254.160|XAO:0000096|FMA:293015|MAT:0000242|BTO:0001785|EHDAA:571|ZFA:0001306|MIAA:0000242|EMAPA:16117|EFO:0000959|VHOG:0000155|MESH:D001934|TAO:0001306|GAID:1292 hp.json branchial arch|visceral arch|pharyngeal arches|arcus pharyngei|arcus pharyngei http://purl.obolibrary.org/obo/UBERON_0002539 vertebrate_core|pheno_slim|efo_slim|uberon_slim PATO:0000587 biolink:NamedThing decreased size A size quality which is relatively low. hp.json reduced|underdeveloped|small|hypoplasia|tiny http://purl.obolibrary.org/obo/PATO_0000587 value_slim HP:0031243 biolink:PhenotypicFeature Decreased VLDL cholesterol concentration A reduction in the amount of very-low-density lipoprotein cholesterol in the blood. hp.json Decreased circulating very-low-density lipoprotein levels http://purl.obolibrary.org/obo/HP_0031243 PATO:0000586 biolink:NamedThing increased size A size quality which is relatively high. hp.json great|large|expanded|enlarged|big http://purl.obolibrary.org/obo/PATO_0000586 value_slim HP:0031244 biolink:PhenotypicFeature Swollen lip Enlargement of the lip typically due to fluid buildup or inflammation. hp.json Edematous lip|Swelling of the lip http://purl.obolibrary.org/obo/HP_0031244 GO:0046545 biolink:BiologicalProcess development of primary female sexual characteristics The process whose specific outcome is the progression of the primary female sexual characteristics over time, from their formation to the mature structure. The primary female sexual characteristics are the ovaries, and they develop in response to sex hormone secretion. hp.json http://purl.obolibrary.org/obo/GO_0046545 HP:0031245 biolink:PhenotypicFeature Productive cough A cough that produces phlegm or mucus. hp.json Wet cough|Cough with mucus production http://purl.obolibrary.org/obo/HP_0031245 GO:0046544 biolink:BiologicalProcess development of secondary male sexual characteristics The process whose specific outcome is the progression of the secondary male sexual characteristics over time, from their formation to the mature structures. In male humans, these include growth of axillary, chest, and pubic hair, voice changes, and testicular/penile enlargement. Development occurs in response to sex hormone secretion. hp.json http://purl.obolibrary.org/obo/GO_0046544 HP:0031246 biolink:PhenotypicFeature Nonproductive cough A cough that does not produce phlegm or mucus. hp.json Dry coughing|Dry cough http://purl.obolibrary.org/obo/HP_0031246 PATO:0000588 biolink:NamedThing vestigial hp.json http://purl.obolibrary.org/obo/PATO_0000588 CHEBI:60164 biolink:ChemicalSubstance ionic polymer An ionic polymer is a polymer, composed of ionic macromolecules. hp.json polyionic polymer http://purl.obolibrary.org/obo/CHEBI_60164 3_STAR GO:0046543 biolink:BiologicalProcess development of secondary female sexual characteristics The process whose specific outcome is the progression of the secondary female sexual characteristics over time, from their formation to the mature structures. In female humans, these include growth of axillary and pubic hair, breast development and menstrual periods. Their development occurs in response to sex hormone secretion. hp.json http://purl.obolibrary.org/obo/GO_0046543 HP:0031240 biolink:PhenotypicFeature Juxtafoveal choroidal neovascularization A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea. hp.json http://purl.obolibrary.org/obo/HP_0031240 HP:0031241 biolink:PhenotypicFeature Subfoveal choroidal neovascularization A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea. hp.json http://purl.obolibrary.org/obo/HP_0031241 GO:0046541 biolink:BiologicalProcess saliva secretion The regulated release of saliva from the salivary glands. In man, the saliva is a turbid and slightly viscous fluid, generally of an alkaline reaction, and is secreted by the parotid, submaxillary, and sublingual glands. In the mouth the saliva is mixed with the secretion from the buccal glands. In man and many animals, saliva is an important digestive fluid on account of the presence of the peculiar enzyme, ptyalin. Wikipedia:Salivation hp.json salivation http://purl.obolibrary.org/obo/GO_0046541 HP:0031242 biolink:PhenotypicFeature Decreased circulating chylomicron concentration Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. hp.json Decreased circulating chylomicron levels|Hypochylomicronemia http://purl.obolibrary.org/obo/HP_0031242 CHEBI:84125 biolink:ChemicalSubstance globoside Gb4 A glycotetraosylceramide in which a linear beta-D-GalNAc-(1->3)-alpha-D-Gal-(1->-4)-beta-D-Gal-(1->4)-beta-D-Glc tetrasaccharide unit is linked glycosidically to a (3R,4E)-3-hydroxy-2-(pentacosanoylamino)octadec-4-en-1-yl ceramide group. PMID:24362891 hp.json GalbetaNAcbeta3Galalpha4Galbeta4GlcbetaCer|(15Z)-N-[(2S,3R,4E)-1-{[N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl]oxy}-3-hydroxyoctadec-4-en-2-yl]tetracos-15-enamide|(15Z)-N-[(2S,3R,4E)-1-{[2-acetamido-2-deoxy-beta-D-galactopyranosyl-(1->3)-alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl]oxy}-3-hydroxyoctadec-4-en-2-yl]tetracos-15-enamide|globoside Gb4Cer(d18:1(4E)/24:1(15Z)) http://purl.obolibrary.org/obo/CHEBI_84125 3_STAR HP:0031247 biolink:PhenotypicFeature Whooping cough A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. hp.json http://purl.obolibrary.org/obo/HP_0031247 HP:0031248 biolink:PhenotypicFeature Palmar pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. hp.json Itchy palm http://purl.obolibrary.org/obo/HP_0031248 PATO:0000585 biolink:NamedThing hypotrophic A decreased size quality inhering in a bearer by virtue of the bearer's exhibiting reduced size of a cell or constituent group of cells (for example, organ). hp.json shrunken http://purl.obolibrary.org/obo/PATO_0000585 value_slim|mpath_slim CHEBI:37734 biolink:ChemicalSubstance phosphoric ester hp.json http://purl.obolibrary.org/obo/CHEBI_37734 1_STAR GO:0046549 biolink:BiologicalProcess retinal cone cell development Development of a cone cell, one of the sensory cells in the eye that reacts to the presence of light. Cone cells contain the photopigment iodopsin or cyanopsin and are responsible for photopic (daylight) vision. hp.json http://purl.obolibrary.org/obo/GO_0046549 HP:0031249 biolink:PhenotypicFeature Parageusia A distortion of the sense of taste, often characterized by the sensation of a metallic taste. hp.json Dysgeusia|Altered sense of taste|Metallic taste in mouth|Metallic taste http://purl.obolibrary.org/obo/HP_0031249 PATO:0000584 biolink:NamedThing hypertrophic An increased size quality inhering in a bearer by virtue of the bearer's exhibiting enlargement of a cell or constituent group of cells (for example, organ). hp.json hypertrophy http://purl.obolibrary.org/obo/PATO_0000584 value_slim|mpath_slim GO:0046548 biolink:BiologicalProcess retinal rod cell development Development of a rod cell, one of the sensory cells in the eye that reacts to the presence of light. Rod cells contain the photopigment rhodopsin or porphyropsin and are responsible for vision in dim light. hp.json http://purl.obolibrary.org/obo/GO_0046548 UBERON:0002544 biolink:AnatomicalEntity digit A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). AAO:0011126|NCIT:C40186|VHOG:0000944|OpenCyc:Mx4rvzLD_ZwpEbGdrcN5Y29ycA|XAO:0003032|MA:0000690|MAT:0000285|EFO:0000881|MIAA:0000285|galen:Digit|EMAPA:32725|FMA:85518|UMLS:C0582802 hp.json limb digit|digit (phalangeal portion) plus soft tissue|acropodial unit http://purl.obolibrary.org/obo/UBERON_0002544 pheno_slim|efo_slim|uberon_slim UBERON:0002546 biolink:AnatomicalEntity cranial placode Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. AAO:0010466|MIAA:0000369|XAO:0000305|EFO:0001650|FMA:293966|MAT:0000369 hp.json placode|placode|cranial placodes|ectodermal placode|ectodermal cranial placode|ectodermal placode http://purl.obolibrary.org/obo/UBERON_0002546 efo_slim UBERON:0002529 biolink:AnatomicalEntity limb segment A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. FMA:241863|NCIT:C38630|UMLS:C1268195|MA:0002889 hp.json segment of limb|limb region|region of limb|extremity part|subdivision of limb|free limb segment http://purl.obolibrary.org/obo/UBERON_0002529 UBERON:0002528 biolink:AnatomicalEntity sacral lymph node A lymph node located in the sacral region. NCIT:C77647|MA:0002883|FMA:16655|UMLS:C0229827 hp.json sacral node http://purl.obolibrary.org/obo/UBERON_0002528 UBERON:0002527 biolink:AnatomicalEntity pancreatic lymph node A lymph node that is part of a pancreas [Automatically generated definition]. NCIT:C77642|MA:0002881|FMA:16626|UMLS:C0229783 hp.json pyloric lymph node|aJCC level 19 node|pancreas lymph node|lymph node of pancreas|pancreatic node http://purl.obolibrary.org/obo/UBERON_0002527 HP:0031254 biolink:PhenotypicFeature Thalamic arteriovenous malformation An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. hp.json http://purl.obolibrary.org/obo/HP_0031254 HP:0031255 biolink:PhenotypicFeature Hypothalamic arteriovenous malformation An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus. hp.json http://purl.obolibrary.org/obo/HP_0031255 HP:0031256 biolink:PhenotypicFeature Optic nerve arteriovenous malformation An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve. hp.json http://purl.obolibrary.org/obo/HP_0031256 PATO:0000599 biolink:NamedThing decreased width A width which is relatively small. hp.json narrow http://purl.obolibrary.org/obo/PATO_0000599 value_slim HP:0031257 biolink:PhenotypicFeature Arteriovenous malformation of the maxilla An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. hp.json http://purl.obolibrary.org/obo/HP_0031257 HP:0031250 biolink:PhenotypicFeature Lip fissure A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation. hp.json http://purl.obolibrary.org/obo/HP_0031250 HP:0031251 biolink:PhenotypicFeature Abnormal subclavian artery morphology Any anomaly of a subclavian artery. hp.json http://purl.obolibrary.org/obo/HP_0031251 HP:0031252 biolink:PhenotypicFeature Dilated left subclavian artery Abnormally increased caliber of the left subclavian artery. hp.json http://purl.obolibrary.org/obo/HP_0031252 HP:0031253 biolink:PhenotypicFeature Anomalous origin of left subclavian artery Origin of the left subclavian artery from an anomalous anatomical location. hp.json http://purl.obolibrary.org/obo/HP_0031253 UBERON:0014508 biolink:AnatomicalEntity distal interphalangeal joint of manual digit 3 A distal inter-phalangeal joint that is part of the 3rd manual digit. FMA:35337 hp.json distal interphalangeal joint of manual digit III|equine second interphalangeal joint of forelimb digit III|distal interphalangeal joint of middle finger|equine distal interphalangeal joint of forelimb|forelimb coffin joint http://purl.obolibrary.org/obo/UBERON_0014508 pheno_slim PATO:0000592 biolink:NamedThing decreased thickness A thickness which is relatively low. hp.json thin|slender|low thickness http://purl.obolibrary.org/obo/PATO_0000592 mpath_slim|value_slim PATO:0000591 biolink:NamedThing increased thickness A thickness which is relatively high. hp.json high thickness|thickened|stout|thick http://purl.obolibrary.org/obo/PATO_0000591 mpath_slim|value_slim UBERON:0014504 biolink:AnatomicalEntity proximal phalanx of digit 4 A proximal phalanx that is part of a autopod digit 4 [Automatically generated definition]. hp.json digit IV P1|4th digit proximal phalanx|autopod digit 4 proximal phalanx|fourth digit proximal phalanx|proximal phalanx of fourth digit of autopod|proximal phalanx of 4th digit|4th digit of autopod proximal phalanx|proximal phalanx of digit IV|proximal phalanx of ring digit|digit IV-1|fourth proximal phalanx of autopod|proximal phalanx of 4th digit of autopod|proximal phalanx of fourth digit http://purl.obolibrary.org/obo/UBERON_0014504 HP:0031258 biolink:PhenotypicFeature Delirium A state of sudden and severe confusion. hp.json http://purl.obolibrary.org/obo/HP_0031258 UBERON:0014505 biolink:AnatomicalEntity proximal phalanx of digit 5 A proximal phalanx that is part of a autopod digit 5 [Automatically generated definition]. hp.json fifth digit proximal phalanx|digit V P1|proximal phalanx of little digit|5th digit proximal phalanx|5th digit of autopod proximal phalanx|proximal phalanx of 5th digit|autopod digit 5 proximal phalanx|digit V-1|proximal phalanx of fifth digit|proximal phalanx of digit V|proximal phalanx of fifth digit of autopod|fifth proximal phalanx of autopod|proximal phalanx of 5th digit of autopod http://purl.obolibrary.org/obo/UBERON_0014505 HP:0031259 biolink:PhenotypicFeature Oophoritis An inflammation of the ovary or ovaries. hp.json Inflammed ovary http://purl.obolibrary.org/obo/HP_0031259 UBERON:0014506 biolink:AnatomicalEntity distal interphalangeal joint of digit 3 A distal inter-phalangeal joint that is part of the 3rd digit. NCIT:C102292 hp.json equine distal interphalangeal joint|distal interphalangeal joint 3|distal interphalangeal joint of digit III|equine second interphalangeal joint of limb digit III|coffin joint http://purl.obolibrary.org/obo/UBERON_0014506 PATO:0000596 biolink:NamedThing decreased volume A volume which is relatively low. hp.json low volume|small volume http://purl.obolibrary.org/obo/PATO_0000596 mpath_slim|value_slim PATO:0000595 biolink:NamedThing increased volume A volume which is relatively high. hp.json high volume|large volume http://purl.obolibrary.org/obo/PATO_0000595 mpath_slim|value_slim UBERON:0014507 biolink:AnatomicalEntity distal interphalangeal joint of pedal digit 3 A distal inter-phalangeal joint that is part of the 3rd pedal digit. FMA:35375 hp.json equine distal interphalangeal joint of hindlimb|distal interphalangeal joint of third toe|hindlimb coffin joint|distal interphalangeal joint of third digit of foot|distal interphalangeal joint of pedal digit III http://purl.obolibrary.org/obo/UBERON_0014507 pheno_slim UBERON:0002533 biolink:AnatomicalEntity post-anal tail bud The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node. MIAA:0000070|ZFA:0000077|AAO:0011104|EHDAA:1595|TAO:0000077|EMAPA:16580|BTO:0001445|XAO:0000107|VHOG:0000201|MAT:0000070|EHDAA2:0001976|EFO:0002748 hp.json tail bud mesenchyme|tail bud|end bud|tailbud http://purl.obolibrary.org/obo/UBERON_0002533 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0002532 biolink:AnatomicalEntity epiblast (generic) In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]. MAT:0000067|MIAA:0000067|VHOG:0000243|BTO:0004593|Wikipedia:Epiblast|FMA:296704 hp.json epiblastus|epiblast|primitive ectoderm|blastocyst|ectoblast|epiblastus http://purl.obolibrary.org/obo/UBERON_0002532 grouping_class|early_development|uberon_slim|vertebrate_core UBERON:0002530 biolink:AnatomicalEntity gland An organ that functions as a secretory or excretory organ. EFO:0000797|EHDAA:6522|BTO:0000522|AAO:0000212|EHDAA:4475|UMLS:C1285092|WikipediaCategory:Glands|MAT:0000021|FBbt:00100317|EHDAA:2161|galen:Gland|SCTID:134358001|MIAA:0000021|EHDAA2:0003096|NCIT:C13319|EMAPA:18425|FMA:86294|OpenCyc:Mx4rwP3vyJwpEbGdrcN5Y29ycA|Wikipedia:Gland|AEO:0000096|HAO:0000375|FMA:7146|MA:0003038 hp.json Druese|glandula|glandular organ|glandular organ|glandula|glandula http://purl.obolibrary.org/obo/UBERON_0002530 pheno_slim|efo_slim|uberon_slim HP:0033840 biolink:PhenotypicFeature Postmenopausal bleeding Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy. hp.json http://purl.obolibrary.org/obo/HP_0033840 HP:0033842 biolink:PhenotypicFeature Early satiety The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food. hp.json Not able to finish a normal-sized meal|Feeling full quickly when eating http://purl.obolibrary.org/obo/HP_0033842 HP:0033841 biolink:PhenotypicFeature Ocular pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye. hp.json Itchy eyes|Ocular itch http://purl.obolibrary.org/obo/HP_0033841 HP:0033848 biolink:PhenotypicFeature Receptive aphasia A type of aphasia that is characterized by impaired language comprehension. hp.json Wernicke aphasia|Fluent aphasia http://purl.obolibrary.org/obo/HP_0033848 HP:0033847 biolink:PhenotypicFeature Phantageusia A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment. hp.json Phantom taste http://purl.obolibrary.org/obo/HP_0033847 HP:0033849 biolink:PhenotypicFeature Bilingual aphasia The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages. hp.json http://purl.obolibrary.org/obo/HP_0033849 HP:0033844 biolink:PhenotypicFeature Tachyphrenia The sensation that thoughts are moving too quickly. hp.json Racing thoughts http://purl.obolibrary.org/obo/HP_0033844 HP:0033843 biolink:PhenotypicFeature Postprandial fullness Feeling excessively full after meals. hp.json http://purl.obolibrary.org/obo/HP_0033843 HP:0006216 biolink:PhenotypicFeature Single interphalangeal crease of fifth finger Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. UMLS:C1850336 hp.json Fifth finger single interphalangeal crease http://purl.obolibrary.org/obo/HP_0006216 HP:0033846 biolink:PhenotypicFeature Spinal hypomyelination Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis. hp.json http://purl.obolibrary.org/obo/HP_0033846 HP:0033845 biolink:PhenotypicFeature Sense of impending doom A feeling that something life-threatening or tragic is about to occur. hp.json Sense of doom http://purl.obolibrary.org/obo/HP_0033845 HP:0006217 biolink:PhenotypicFeature Limited mobility of proximal interphalangeal joint UMLS:C1857288 hp.json Limited mobility of innermost hinge joint http://purl.obolibrary.org/obo/HP_0006217 HP:0008873 biolink:PhenotypicFeature Disproportionate short-limb short stature A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. UMLS:C1849937 hp.json Dwarfism, short-limbed|Micromelic dwarfism|Brachymelic dwarfism|Short stature, disproportionate short-limb|Short-limbed dwarfism|Disproportionate short limb dwarfism|Short limb dwarfism, disproportionate|Short-limb dwarfism|Short stature, disproportionate short limb|Short limb dwarfism http://purl.obolibrary.org/obo/HP_0008873 hposlim_core HP:0006210 biolink:PhenotypicFeature Postaxial oligodactyly UMLS:C1867927 hp.json http://purl.obolibrary.org/obo/HP_0006210 HP:0008872 biolink:PhenotypicFeature Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. UMLS:C2674608 hp.json http://purl.obolibrary.org/obo/HP_0008872 HP:0006213 biolink:PhenotypicFeature Thin proximal phalanges with broad epiphyses of the hand UMLS:C1862156|UMLS:C4025079 hp.json Thin proximal phalanges with broad epiphyses|Thin innermost bone with broad end part of the hand bone http://purl.obolibrary.org/obo/HP_0006213 HP:0033851 biolink:PhenotypicFeature Oculomotor synkinesis Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction. hp.json http://purl.obolibrary.org/obo/HP_0033851 HP:0033850 biolink:PhenotypicFeature Coldness Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness. hp.json Cold skin temperature|Coolness to palpation|Cool skin temperature|Cool skin http://purl.obolibrary.org/obo/HP_0033850 HP:0033853 biolink:PhenotypicFeature Abnormal arcuate vein morphology Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). hp.json http://purl.obolibrary.org/obo/HP_0033853 HP:0033852 biolink:PhenotypicFeature Abnormal intrarenal vein morphology Abnormal structure of a vein located inside the kidney parenchyma. hp.json http://purl.obolibrary.org/obo/HP_0033852 HP:0033859 biolink:PhenotypicFeature Abnormal peritubular capillary morphology Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, hp.json http://purl.obolibrary.org/obo/HP_0033859 HP:0033858 biolink:PhenotypicFeature Organized thrombi within interlobular vein lumen Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033858 HP:0033855 biolink:PhenotypicFeature Abnormal interlobular vein lumen morphology Any structural anomaly located in the the inside space of the interlobular veins of the kidney. hp.json Abnormal morphology of the interlobular vein lumen http://purl.obolibrary.org/obo/HP_0033855 HP:0008887 biolink:PhenotypicFeature Adipose tissue loss A loss of adipose tissue. UMLS:C4024615 hp.json Loss of fat tissue http://purl.obolibrary.org/obo/HP_0008887 CHEBI:59174 biolink:ChemicalSubstance hapten Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals. PMID:291959|PMID:17986299|PMID:19101624|PMID:17875790|PMID:3782019 hp.json haptens http://purl.obolibrary.org/obo/CHEBI_59174 3_STAR HP:0006226 biolink:PhenotypicFeature Osteoarthritis of the first carpometacarpal joint UMLS:C0409956|SNOMEDCT_US:37895003 hp.json http://purl.obolibrary.org/obo/HP_0006226 HP:0033854 biolink:PhenotypicFeature Abnormal interlobular vein morphology Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). hp.json http://purl.obolibrary.org/obo/HP_0033854 HP:0033857 biolink:PhenotypicFeature Intraluminal thrombi within interlobular veins Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033857 HP:0033856 biolink:PhenotypicFeature Cholesterol emboli within interlobular vein lumen Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp.json http://purl.obolibrary.org/obo/HP_0033856 HP:0006228 biolink:PhenotypicFeature Valgus hand deformity UMLS:C1860179 hp.json http://purl.obolibrary.org/obo/HP_0006228 HP:0008883 biolink:PhenotypicFeature Mild intrauterine growth retardation Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. UMLS:C1840006 hp.json Mild prenatal growth deficiency http://purl.obolibrary.org/obo/HP_0008883 HP:0006224 biolink:PhenotypicFeature Tapering pointed ends of distal finger phalanges A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms). UMLS:C4025078 hp.json http://purl.obolibrary.org/obo/HP_0006224 HP:0033862 biolink:PhenotypicFeature Cortical peritubular capillaritis Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. hp.json http://purl.obolibrary.org/obo/HP_0033862 HP:0033861 biolink:PhenotypicFeature Multilamellation of cortical peritubular capillary basement membranes Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. hp.json Multilamellation of basement membranes within cortical peritubular capillaries http://purl.obolibrary.org/obo/HP_0033861 HP:0031200 biolink:PhenotypicFeature Hyaline casts A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. hp.json http://purl.obolibrary.org/obo/HP_0031200 HP:0033864 biolink:PhenotypicFeature Abnormal medullary peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the medulla of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033864 HP:0031201 biolink:PhenotypicFeature Granular casts A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. hp.json http://purl.obolibrary.org/obo/HP_0031201 HP:0033863 biolink:PhenotypicFeature Abnormal cortical peritubular capillary lumen morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033863 HP:0031202 biolink:PhenotypicFeature Waxy casts A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. hp.json http://purl.obolibrary.org/obo/HP_0031202 PATO:0000547 biolink:NamedThing photosensitive A photosensitivity quality inhering in a bearer by virtue of the bearer's exhibiting photosensitivity. hp.json http://purl.obolibrary.org/obo/PATO_0000547 disposition_slim|value_slim HP:0033860 biolink:PhenotypicFeature Abnormal cortical peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the cortex of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033860 HP:0031207 biolink:PhenotypicFeature Hepatic hemangioma A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size. hp.json Liver hemangioma|Hemangioma of the liver http://purl.obolibrary.org/obo/HP_0031207 HP:0033869 biolink:PhenotypicFeature Medullary peritubular capillary lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp.json Cholesterol emboli within the medullary peritubular capillary lumen http://purl.obolibrary.org/obo/HP_0033869 HP:0031208 biolink:PhenotypicFeature Increased pituitary glycoprotein hormone alpha subunit level An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. hp.json Increased pituitary glycoprotein polypeptide alpha subunit level|Increased pituitary glycoprotein alpha subunit level http://purl.obolibrary.org/obo/HP_0031208 HP:0031209 biolink:PhenotypicFeature Decreased circulating lipoprotein lipase concentration Reduction in the level of lipoprotein lipase in the blood. hp.json Decreased lipoprotein lipase level http://purl.obolibrary.org/obo/HP_0031209 HP:0031203 biolink:PhenotypicFeature Fatty casts A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. hp.json http://purl.obolibrary.org/obo/HP_0031203 HP:0008855 biolink:PhenotypicFeature Moderate postnatal growth retardation A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. UMLS:C4024616 hp.json Moderate growth delay in children http://purl.obolibrary.org/obo/HP_0008855 HP:0033866 biolink:PhenotypicFeature Medullary peritubular capillary erythrocyte congestion Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). hp.json http://purl.obolibrary.org/obo/HP_0033866 HP:0033865 biolink:PhenotypicFeature Medullary peritubular capillaritis Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. hp.json http://purl.obolibrary.org/obo/HP_0033865 CHEBI:59163 biolink:ChemicalSubstance biomarker A substance used as an indicator of a biological state. hp.json biological marker http://purl.obolibrary.org/obo/CHEBI_59163 3_STAR HP:0031204 biolink:PhenotypicFeature Bacterial cell casts A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. hp.json http://purl.obolibrary.org/obo/HP_0031204 HP:0033868 biolink:PhenotypicFeature Abnormal medullary peritubular capillary lumen morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033868 HP:0008857 biolink:PhenotypicFeature Neonatal short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. UMLS:C3149908 hp.json Short-trunk dwarfism identifiable at birth http://purl.obolibrary.org/obo/HP_0008857 HP:0031205 biolink:PhenotypicFeature Reduced lysosomal acid lipase activity Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. hp.json Reduced leukocyte acid lipase activity http://purl.obolibrary.org/obo/HP_0031205 HP:0033867 biolink:PhenotypicFeature Multilamellation of medullary peritubular capillary basement membranes Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. hp.json Multilamellation of basement membranes within medullary peritubular capillaries http://purl.obolibrary.org/obo/HP_0033867 HP:0031206 biolink:PhenotypicFeature Striatal T2 hyperintensity Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging. hp.json http://purl.obolibrary.org/obo/HP_0031206 HP:0008850 biolink:PhenotypicFeature Severe postnatal growth retardation Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. UMLS:C1857641 hp.json Severe growth delay in children|Severe postnatal growth failure|Marked growth retardation|Severe postnatal growth deficiency http://purl.obolibrary.org/obo/HP_0008850 CHEBI:35195 biolink:ChemicalSubstance surfactant A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces. hp.json surfactants|surface active agent|surfactant http://purl.obolibrary.org/obo/CHEBI_35195 3_STAR HP:0033873 biolink:PhenotypicFeature Cortical peritubular capillary intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. hp.json Intraluminal thrombi within cortical peritubular capillaries http://purl.obolibrary.org/obo/HP_0033873 HP:0031210 biolink:PhenotypicFeature Abnormal circulating hyaluronic acid concentration A deviation from the normal concentration of hyaluronic acid in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031210 HP:0031211 biolink:PhenotypicFeature Elevated cholesterol ester level An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol. hp.json Increased cholesteryl esters|Elevated cholesteryl ester level|Increased cholesterol esters http://purl.obolibrary.org/obo/HP_0031211 HP:0033872 biolink:PhenotypicFeature Cortical peritubular capillary lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp.json http://purl.obolibrary.org/obo/HP_0033872 HP:0031212 biolink:PhenotypicFeature Abnormal circulating progesterone level hp.json http://purl.obolibrary.org/obo/HP_0031212 HP:0033875 biolink:PhenotypicFeature Abnormal arcuate vein lumen morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033875 HP:0031213 biolink:PhenotypicFeature Elevated circulating 17-hydroxyprogesterone An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. hp.json Elevated circulating 17-OHP http://purl.obolibrary.org/obo/HP_0031213 HP:0033874 biolink:PhenotypicFeature Cortical peritubular capillary lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033874 HGNC:7045 biolink:Gene MGAT2 (human) A protein coding gene MGAT2 in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7045 HP:0033871 biolink:PhenotypicFeature Medullary peritubular capillary lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. hp.json Organized thrombi within the medullary peritubular capillary lumen http://purl.obolibrary.org/obo/HP_0033871 HP:0033870 biolink:PhenotypicFeature Medullary peritubular capillary intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. hp.json Intraluminal thrombi within medullary peritubular capillaries http://purl.obolibrary.org/obo/HP_0033870 GO:0010594 biolink:BiologicalProcess regulation of endothelial cell migration Any process that modulates the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. hp.json http://purl.obolibrary.org/obo/GO_0010594 HP:0031218 biolink:PhenotypicFeature Inappropriate antidiuretic hormone secretion A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume. hp.json Syndrome of inappropriate antidiuretic hormone secretion|Inappropriate ADH secretion|SIADH http://purl.obolibrary.org/obo/HP_0031218 HP:0006207 biolink:PhenotypicFeature Partial fusion of carpals UMLS:C1844519 hp.json http://purl.obolibrary.org/obo/HP_0006207 HP:0031219 biolink:PhenotypicFeature Reduced radioactive iodine uptake A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. hp.json http://purl.obolibrary.org/obo/HP_0031219 GO:0010595 biolink:BiologicalProcess positive regulation of endothelial cell migration Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. hp.json http://purl.obolibrary.org/obo/GO_0010595 HP:0006208 biolink:PhenotypicFeature Metaphyseal cupping of proximal phalanges Metaphyseal cupping affecting the proximal phalanges. UMLS:C1834980 hp.json http://purl.obolibrary.org/obo/HP_0006208 HP:0006209 biolink:PhenotypicFeature Partial-complete absence of 5th phalanges UMLS:C1867928 hp.json Partial-complete absence of 5th digital bone http://purl.obolibrary.org/obo/HP_0006209 HP:0033877 biolink:PhenotypicFeature Arcuate vein intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. hp.json Intraluminal thrombi within arcuate veins http://purl.obolibrary.org/obo/HP_0033877 HP:0006203 biolink:PhenotypicFeature Decreased movement range in interphalangeal joints UMLS:C1836772 hp.json Decreased range of movement range in hinge joints http://purl.obolibrary.org/obo/HP_0006203 HP:0031214 biolink:PhenotypicFeature Decreased circulating dehydroepiandrosterone concentration hp.json Decreased circulating dehydroepiandrosterone level http://purl.obolibrary.org/obo/HP_0031214 HP:0008866 biolink:PhenotypicFeature Failure to thrive secondary to recurrent infections Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. UMLS:C1832323 hp.json Weight faltering secondary to recurrent infections|Faltering weight secondary to recurrent infections http://purl.obolibrary.org/obo/HP_0008866 HP:0033876 biolink:PhenotypicFeature Arcuate vein lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp.json Cholesterol emboli within arcuate vein lumen http://purl.obolibrary.org/obo/HP_0033876 HP:0031215 biolink:PhenotypicFeature Decreased circulating dehydroepiandrosterone-sulfate concentration A reduced concentration of dehydroepiandrosterone-sulfate in the blood. hp.json Decreased circulating dehydroepiandrosterone-sulfate level http://purl.obolibrary.org/obo/HP_0031215 HP:0033879 biolink:PhenotypicFeature Abnormal arcuate vein intima/media morphology Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033879 GO:0010596 biolink:BiologicalProcess negative regulation of endothelial cell migration Any process that decreases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. hp.json http://purl.obolibrary.org/obo/GO_0010596 HP:0031216 biolink:PhenotypicFeature Increased circulating progesterone An elevated concentration of progesterone in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031216 HP:0006205 biolink:PhenotypicFeature Irregular phalanges Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance. UMLS:C4025081 hp.json Irregular finger bones http://purl.obolibrary.org/obo/HP_0006205 NCBITaxon:117571 biolink:OrganismalEntity Euteleostomi GC_ID:1 hp.json bony vertebrates http://purl.obolibrary.org/obo/NCBITaxon_117571 HP:0033878 biolink:PhenotypicFeature Arcuate vein lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. hp.json Organized thrombi within arcuate vein lumen http://purl.obolibrary.org/obo/HP_0033878 HP:0031217 biolink:PhenotypicFeature Hot flashes Sudden feelings of warmth that are generally most pronounced over the face, neck and chest. hp.json http://purl.obolibrary.org/obo/HP_0031217 NCBITaxon:117570 biolink:OrganismalEntity Teleostomi GC_ID:1 hp.json http://purl.obolibrary.org/obo/NCBITaxon_117570 HP:0006206 biolink:PhenotypicFeature Hypersegmentation of proximal phalanx of second finger Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. UMLS:C4025080 hp.json http://purl.obolibrary.org/obo/HP_0006206 HP:0006200 biolink:PhenotypicFeature Widened distal phalanges UMLS:C1862421 hp.json Widened outermost bone of limb http://purl.obolibrary.org/obo/HP_0006200 HP:0006201 biolink:PhenotypicFeature Hypermobility of distal interphalangeal joints UMLS:C1851811 hp.json Increased mobility of outermost hinge joint http://purl.obolibrary.org/obo/HP_0006201 HP:0006202 biolink:PhenotypicFeature Osteolysis of scaphoids UMLS:C4025082 hp.json http://purl.obolibrary.org/obo/HP_0006202 GO:0010567 biolink:BiologicalProcess regulation of ketone catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a ketone, carried out by individual cells. hp.json http://purl.obolibrary.org/obo/GO_0010567 GO:0009581 biolink:BiologicalProcess detection of external stimulus The series of events in which an external stimulus is received by a cell and converted into a molecular signal. hp.json perception of external stimulus http://purl.obolibrary.org/obo/GO_0009581 GO:0009582 biolink:BiologicalProcess detection of abiotic stimulus The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal. hp.json perception of abiotic stimulus http://purl.obolibrary.org/obo/GO_0009582 CHEBI:35179 biolink:ChemicalSubstance 2-oxo monocarboxylic acid anion An oxo monocarboxylic acid anion in which the oxo group is located at the 2-position. PMID:10850983|MetaCyc:2-Oxo-carboxylates hp.json 2-oxo monocarboxylate|a 2-oxocarboxylate|2-oxo monocarboxylic acid anions http://purl.obolibrary.org/obo/CHEBI_35179 3_STAR GO:0010561 biolink:BiologicalProcess negative regulation of glycoprotein biosynthetic process Any process that decreases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. hp.json http://purl.obolibrary.org/obo/GO_0010561 HP:0033804 biolink:PhenotypicFeature Subepidermal blistering A type of blistering in which the lesions are located beneath the epidermis. hp.json http://purl.obolibrary.org/obo/HP_0033804 HP:0033803 biolink:PhenotypicFeature Sub-lamina densa cleavage A type of blistering in which the cleavage plane of blisters is located below the lamina densa. hp.json Blistering with sub-lamina densa plane of cleavage http://purl.obolibrary.org/obo/HP_0033803 GO:0010562 biolink:BiologicalProcess positive regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. hp.json http://purl.obolibrary.org/obo/GO_0010562 HP:0033806 biolink:PhenotypicFeature Abnormal epidermis stratum granulosum morphology An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum. hp.json http://purl.obolibrary.org/obo/HP_0033806 HP:0033805 biolink:PhenotypicFeature Non-necrotizing granuloma A granuloma which is not associated with necrotic changes. hp.json http://purl.obolibrary.org/obo/HP_0033805 GO:0010560 biolink:BiologicalProcess positive regulation of glycoprotein biosynthetic process Any process that increases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. hp.json http://purl.obolibrary.org/obo/GO_0010560 HP:0033800 biolink:PhenotypicFeature Blistering by anatomical location Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur. hp.json http://purl.obolibrary.org/obo/HP_0033800 GO:0010565 biolink:BiologicalProcess regulation of cellular ketone metabolic process Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. hp.json http://purl.obolibrary.org/obo/GO_0010565 GO:0010566 biolink:BiologicalProcess regulation of ketone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells. hp.json http://purl.obolibrary.org/obo/GO_0010566 GO:0010563 biolink:BiologicalProcess negative regulation of phosphorus metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. hp.json http://purl.obolibrary.org/obo/GO_0010563 HP:0033802 biolink:PhenotypicFeature Intra-epidermal blistering A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. hp.json http://purl.obolibrary.org/obo/HP_0033802 HP:0033801 biolink:PhenotypicFeature Blistering by histological location Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa. hp.json http://purl.obolibrary.org/obo/HP_0033801 GO:0010564 biolink:BiologicalProcess regulation of cell cycle process Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. hp.json http://purl.obolibrary.org/obo/GO_0010564 HP:0006254 biolink:PhenotypicFeature Elevated alpha-fetoprotein An increased concentration of alpha-fetoprotein. UMLS:C0476489|UMLS:C0235971 hp.json Increased levels of alpha fetoprotein|Alpha fetoprotein abnormal|Increased serum alpha-fetoprotein|Serum alpha-fetoprotein increased http://purl.obolibrary.org/obo/HP_0006254 HP:0006256 biolink:PhenotypicFeature Abnormality of hand joint mobility UMLS:C4025076 hp.json Abnormality of hand joint mobility http://purl.obolibrary.org/obo/HP_0006256 HP:0006257 biolink:PhenotypicFeature Abnormality of carpal bone ossification UMLS:C4025075 hp.json Abnormal wrist bone maturation http://purl.obolibrary.org/obo/HP_0006257 HP:0033808 biolink:PhenotypicFeature Spermatocele A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily. hp.json http://purl.obolibrary.org/obo/HP_0033808 HP:0033807 biolink:PhenotypicFeature Absent keratohyalin granules Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. hp.json http://purl.obolibrary.org/obo/HP_0033807 HP:0006251 biolink:PhenotypicFeature Limited wrist extension UMLS:C1862481 hp.json http://purl.obolibrary.org/obo/HP_0006251 HP:0006252 biolink:PhenotypicFeature Interphalangeal joint erosions UMLS:C1850158 hp.json http://purl.obolibrary.org/obo/HP_0006252 HP:0006253 biolink:PhenotypicFeature Swelling of proximal interphalangeal joints UMLS:C1860841 hp.json Swelling of innermost hinge joints http://purl.obolibrary.org/obo/HP_0006253 HP:0033809 biolink:PhenotypicFeature Increased circulating 17 hydroxypregnenolone concentration Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids. hp.json http://purl.obolibrary.org/obo/HP_0033809 HP:0006270 biolink:PhenotypicFeature Hypoplastic spleen Underdevelopment of the spleen. UMLS:C1970617 hp.json Underdeveloped spleen http://purl.obolibrary.org/obo/HP_0006270 CHEBI:35191 biolink:ChemicalSubstance triterpene hp.json http://purl.obolibrary.org/obo/CHEBI_35191 CHEBI:35190 biolink:ChemicalSubstance diterpene A C20 terpene. hp.json diterpeno|diterpenos|diterpenes|Diterpen|diterpenes http://purl.obolibrary.org/obo/CHEBI_35190 3_STAR GO:0009593 biolink:BiologicalProcess detection of chemical stimulus The series of events in which a chemical stimulus is received by a cell and converted into a molecular signal. hp.json perception of chemical stimulus|detection of chemical substance|perception of chemical substance|chemoreception|chemoperception http://purl.obolibrary.org/obo/GO_0009593 GO:0009583 biolink:BiologicalProcess detection of light stimulus The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal. hp.json detection of light|perception of light http://purl.obolibrary.org/obo/GO_0009583 HP:0033815 biolink:PhenotypicFeature Bronchocentric Centered in bronchi or bronchioles. hp.json http://purl.obolibrary.org/obo/HP_0033815 GO:0010572 biolink:BiologicalProcess positive regulation of platelet activation Any process that increases the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. hp.json http://purl.obolibrary.org/obo/GO_0010572 HP:0033814 biolink:PhenotypicFeature Paraseptal Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. hp.json http://purl.obolibrary.org/obo/HP_0033814 GO:0009584 biolink:BiologicalProcess detection of visible light The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm. hp.json perception of visible light http://purl.obolibrary.org/obo/GO_0009584 HP:0033817 biolink:PhenotypicFeature Miliary Characterized by numerous small lesions said to resemble millet seed. hp.json http://purl.obolibrary.org/obo/HP_0033817 CHEBI:59132 biolink:ChemicalSubstance antigen Any substance that stimulates an immune response in the body, such as through antibody production or by presentation to a T-cell receptor after binding to a major histocompability complex (MHC). hp.json antigens http://purl.obolibrary.org/obo/CHEBI_59132 3_STAR HP:0033816 biolink:PhenotypicFeature Centrilobular Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs. hp.json http://purl.obolibrary.org/obo/HP_0033816 HP:0033811 biolink:PhenotypicFeature Abnormal circulating androstenedione concentration Any deviation from the normal concentration of androstenedione in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033811 HP:0033810 biolink:PhenotypicFeature Decreased circulating dihydrotestosterone concentration A reduced concentration of dihydrotestosterone in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033810 HP:0033813 biolink:PhenotypicFeature Perilobular Situated or occurring around a lobe of an organ. hp.json http://purl.obolibrary.org/obo/HP_0033813 HP:0033812 biolink:PhenotypicFeature Decreased circulating androstenedione concentration Reduced concentration of androstenedione in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0033812 HP:0006265 biolink:PhenotypicFeature Aplasia/Hypoplasia of fingers Small/hypoplastic or absent/aplastic fingers. UMLS:C4025071 hp.json Absent/underdeveloped fingers|Absent/small fingers http://purl.obolibrary.org/obo/HP_0006265 HP:0006266 biolink:PhenotypicFeature Small placenta Reduced size of the placenta. UMLS:C0566694|SNOMEDCT_US:289264006 hp.json Small placenta http://purl.obolibrary.org/obo/HP_0006266 HP:0006267 biolink:PhenotypicFeature Large placenta Increased size of the placenta. SNOMEDCT_US:289263000|UMLS:C0566693 hp.json Large placenta|Placental enlargement http://purl.obolibrary.org/obo/HP_0006267 HP:0006268 biolink:PhenotypicFeature Fluctuating splenomegaly Intermittently increased size of the spleen. UMLS:C1835882 hp.json http://purl.obolibrary.org/obo/HP_0006268 CHEBI:35186 biolink:ChemicalSubstance terpene A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]. hp.json terpenos|terpeno|Terpen|terpenes|terpenes|terpene http://purl.obolibrary.org/obo/CHEBI_35186 3_STAR HP:0006261 biolink:PhenotypicFeature Abnormal phalangeal joint morphology of the hand UMLS:C4021604 hp.json Abnormality of the small joints of the hand|Abnormality of phalangeal joints of the hand http://purl.obolibrary.org/obo/HP_0006261 HP:0033819 biolink:PhenotypicFeature Perilymphatic Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel). hp.json http://purl.obolibrary.org/obo/HP_0033819 HP:0006262 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 5th finger A small/hypoplastic or absent/aplastic 5th finger. UMLS:C4025074 hp.json Absent/small pinky finger|Absent/small little finger|Absent/underdeveloped pinkie finger|Absent/underdeveloped little finger|Absent/underdeveloped pinky finger|Absent/small pinkie finger http://purl.obolibrary.org/obo/HP_0006262 HP:0033818 biolink:PhenotypicFeature Reticular Applies to an abnormality whose distribution and appearance resembles a net or network-like structure. hp.json http://purl.obolibrary.org/obo/HP_0033818 HP:0006263 biolink:PhenotypicFeature Abnormality of the epiphyses of the 2nd finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger. UMLS:C4025073 hp.json Abnormality of the end part of the index finger bone http://purl.obolibrary.org/obo/HP_0006263 HP:0006264 biolink:PhenotypicFeature Aplasia/Hypoplasia of the 2nd finger A small/hypoplastic or absent/aplastic 2nd finger. UMLS:C4025072 hp.json Absent/small index finger|Absent/underdeveloped index finger http://purl.obolibrary.org/obo/HP_0006264 HP:0033820 biolink:PhenotypicFeature Apical Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung. hp.json http://purl.obolibrary.org/obo/HP_0033820 PATO:0000502 biolink:NamedThing delayed A quality of a process which starts later than the natural start time or the reference process. hp.json late http://purl.obolibrary.org/obo/PATO_0000502 value_slim GO:0010549 biolink:BiologicalProcess regulation of membrane disassembly Any process that modulates the frequency, rate or extent of membrane disassembly. hp.json http://purl.obolibrary.org/obo/GO_0010549 HP:0033826 biolink:PhenotypicFeature Inferior mediastinal mass A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). hp.json http://purl.obolibrary.org/obo/HP_0033826 HP:0033825 biolink:PhenotypicFeature Superior mediastinal mass A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). hp.json http://purl.obolibrary.org/obo/HP_0033825 HP:0033828 biolink:PhenotypicFeature Middle mediastinal mass A type of inferior mediastinal mass that is located withinthe pericardium. hp.json http://purl.obolibrary.org/obo/HP_0033828 HP:0033827 biolink:PhenotypicFeature Anterior mediastinal mass A type of inferior mediastinal mass that is located in front of the pericardium. hp.json http://purl.obolibrary.org/obo/HP_0033827 HP:0033822 biolink:PhenotypicFeature Mass on thoracic imaging A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features. hp.json http://purl.obolibrary.org/obo/HP_0033822 HP:0006236 biolink:PhenotypicFeature Slender metacarpals Decreased width of the metacarpal bones (that is, reduced diameter). UMLS:C4025077 hp.json Slender long bones of hand http://purl.obolibrary.org/obo/HP_0006236 GO:0010543 biolink:BiologicalProcess regulation of platelet activation Any process that modulates the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. hp.json http://purl.obolibrary.org/obo/GO_0010543 HP:0033821 biolink:PhenotypicFeature Pulmonary mass A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). hp.json http://purl.obolibrary.org/obo/HP_0033821 HP:0006237 biolink:PhenotypicFeature Prominent interphalangeal joints UMLS:C1859115 hp.json Prominent hinge joints http://purl.obolibrary.org/obo/HP_0006237 GO:0010544 biolink:BiologicalProcess negative regulation of platelet activation Any process that decreases the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. hp.json http://purl.obolibrary.org/obo/GO_0010544 HP:0033824 biolink:PhenotypicFeature Pleural mass A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). hp.json http://purl.obolibrary.org/obo/HP_0033824 HP:0006239 biolink:PhenotypicFeature Shortening of all middle phalanges of the toes Abnormal shortening of all middle phalanges of toes. UMLS:C4021605 hp.json Shortening of all the middle bones of the toes|Brachymesophalangy of feet http://purl.obolibrary.org/obo/HP_0006239 HP:0033823 biolink:PhenotypicFeature Mediastinal mass A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). hp.json http://purl.obolibrary.org/obo/HP_0033823 HP:0006232 biolink:PhenotypicFeature Expanded metacarpals with widened medullary cavities UMLS:C1969288 hp.json http://purl.obolibrary.org/obo/HP_0006232 HP:0006233 biolink:PhenotypicFeature Osteoarthritis of the distal interphalangeal joint SNOMEDCT_US:239869009|UMLS:C0409957 hp.json http://purl.obolibrary.org/obo/HP_0006233 HP:0006234 biolink:PhenotypicFeature Osteolysis involving tarsal bones An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. UMLS:C1833735 hp.json Tarsal osteolysis|Tarsal bone osteolysis http://purl.obolibrary.org/obo/HP_0006234 HP:0008897 biolink:PhenotypicFeature Postnatal growth retardation Slow or limited growth after birth. UMLS:C1859778 hp.json Postnatal growth failure|Postnatal growth deceleration|Growth delay as children|Postnatal growth deficiency|Growth retardation as children http://purl.obolibrary.org/obo/HP_0008897 HP:0008890 biolink:PhenotypicFeature Severe short-limb dwarfism UMLS:C1860105 hp.json http://purl.obolibrary.org/obo/HP_0008890 HP:0033829 biolink:PhenotypicFeature Posterior mediastinal mass A type of inferior mediastinal mass that is located behind the pericardium. hp.json http://purl.obolibrary.org/obo/HP_0033829 HP:0006230 biolink:PhenotypicFeature Unilateral oligodactyly UMLS:C3805861 hp.json http://purl.obolibrary.org/obo/HP_0006230 PR:Q64314 biolink:Protein hematopoietic progenitor cell antigen CD34 (mouse) A CD34 molecule that is encoded in the genome of mouse. UniProtKB:Q64314 hp.json mCD34|CD34 (mouse)|Cd34 http://purl.obolibrary.org/obo/PR_Q64314 GO:0010558 biolink:BiologicalProcess negative regulation of macromolecule biosynthetic process Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. hp.json http://purl.obolibrary.org/obo/GO_0010558 GO:0034504 biolink:BiologicalProcess protein localization to nucleus A process in which a protein transports or maintains the localization of another protein to the nucleus. hp.json protein localization in cell nucleus|protein targeting to nucleus|protein localization in nucleus|protein localisation to nucleus http://purl.obolibrary.org/obo/GO_0034504 GO:0010559 biolink:BiologicalProcess regulation of glycoprotein biosynthetic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. hp.json http://purl.obolibrary.org/obo/GO_0010559 HP:0033831 biolink:PhenotypicFeature Cavitating pulmonary mass Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm. hp.json http://purl.obolibrary.org/obo/HP_0033831 GO:0034505 biolink:BiologicalProcess tooth mineralization The process in which calcium salts are deposited into calcareous tooth structures such as dental enamel, dentin and cementum. hp.json tooth calcification http://purl.obolibrary.org/obo/GO_0034505 GO:0010556 biolink:BiologicalProcess regulation of macromolecule biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. hp.json http://purl.obolibrary.org/obo/GO_0010556 GO:0010557 biolink:BiologicalProcess positive regulation of macromolecule biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. hp.json http://purl.obolibrary.org/obo/GO_0010557 HP:0033830 biolink:PhenotypicFeature Hyperdense pulmonary mass A type of pulmonary mass with high attenuation. hp.json http://purl.obolibrary.org/obo/HP_0033830 PATO:0000516 biolink:NamedThing sensitive toward A quality inhering in a bearer by virtue of the bearer's having sensitivity toward an external stimulus. hp.json sensitive http://purl.obolibrary.org/obo/PATO_0000516 disposition_slim|relational_slim|value_slim HP:0033837 biolink:PhenotypicFeature Abnormal arcuate artery morphology Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. hp.json Abnormalities of arcuate arteries http://purl.obolibrary.org/obo/HP_0033837 HP:0033836 biolink:PhenotypicFeature Abnormal intrarenal artery morphology An anomalous structure of an artery located in the kidney. hp.json Abnormal kidney arterial blood vessel morphology http://purl.obolibrary.org/obo/HP_0033836 HP:0033839 biolink:PhenotypicFeature Testicular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes. hp.json Pain in testicles http://purl.obolibrary.org/obo/HP_0033839 HP:0033838 biolink:PhenotypicFeature Dysphoria A state of feeling very unhappy, uneasy, or dissatisfied. hp.json http://purl.obolibrary.org/obo/HP_0033838 HP:0033833 biolink:PhenotypicFeature Elevated circulating soluble CD25 concentration Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response. hp.json Elevated circulating interleukin-2 receptor alpha-chain http://purl.obolibrary.org/obo/HP_0033833 HP:0006247 biolink:PhenotypicFeature Enlarged interphalangeal joints UMLS:C1859701 hp.json Enlarged hinge joints http://purl.obolibrary.org/obo/HP_0006247 GO:0009566 biolink:BiologicalProcess fertilization The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). Wikipedia:Fertilisation hp.json syngamy http://purl.obolibrary.org/obo/GO_0009566 HP:0033832 biolink:PhenotypicFeature Livedo A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels. hp.json Livedoid dermatitis http://purl.obolibrary.org/obo/HP_0033832 HP:0006248 biolink:PhenotypicFeature Limited wrist movement An abnormal limitation of the mobility of the wrist. UMLS:C1840088 hp.json Limited wrist movement|Limited movement of the wrist http://purl.obolibrary.org/obo/HP_0006248 hposlim_core HP:0033835 biolink:PhenotypicFeature Abnormal renal vascular morphology Anomalous structure of a blood vessel in the kidney. hp.json http://purl.obolibrary.org/obo/HP_0033835 HP:0033834 biolink:PhenotypicFeature Malaise A feeling of general discomfort, weakness, or lack of health. hp.json http://purl.obolibrary.org/obo/HP_0033834 GO:0034502 biolink:BiologicalProcess protein localization to chromosome Any process in which a protein is transported to, or maintained at, a specific location on a chromosome. hp.json protein localisation to chromosome|condensin localization to chromosome http://purl.obolibrary.org/obo/GO_0034502 HP:0006243 biolink:PhenotypicFeature Phalangeal dislocation UMLS:C2673396 hp.json http://purl.obolibrary.org/obo/HP_0006243 GO:1900367 biolink:BiologicalProcess positive regulation of defense response to insect Any process that activates or increases the frequency, rate or extent of defense response to insect. hp.json upregulation of defense response to insect|upregulation of physiological defense response to insect|positive regulation of physiological defense response to insect|up regulation of defense response to insect|up regulation of physiological defense response to insect|up-regulation of defense response to insect|up-regulation of physiological defense response to insect|activation of defense response to insect|activation of physiological defense response to insect http://purl.obolibrary.org/obo/GO_1900367 GO:1900366 biolink:BiologicalProcess negative regulation of defense response to insect Any process that stops, prevents or reduces the frequency, rate or extent of defense response to insect. hp.json inhibition of physiological defense response to insect|down-regulation of defense response to insect|negative regulation of physiological defense response to insect|down-regulation of physiological defense response to insect|downregulation of defense response to insect|susceptibility to insect|downregulation of physiological defense response to insect|down regulation of defense response to insect|down regulation of physiological defense response to insect|inhibition of defense response to insect http://purl.obolibrary.org/obo/GO_1900366 HP:0008808 biolink:PhenotypicFeature High iliac wing Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). UMLS:C1969680 hp.json High iliac wings|Narrow, high iliac wings http://purl.obolibrary.org/obo/HP_0008808 HP:0008807 biolink:PhenotypicFeature Acetabular dysplasia A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. MSH:D006617|UMLS:C1328407 hp.json Dysplastic acetabulae http://purl.obolibrary.org/obo/HP_0008807 HP:0008804 biolink:PhenotypicFeature Broad femoral head Increased width of the femoral head. UMLS:C4024619 hp.json Wide head of thigh bone http://purl.obolibrary.org/obo/HP_0008804 HP:0008803 biolink:PhenotypicFeature obsolete Narrow sacroiliac notch hp.json http://purl.obolibrary.org/obo/HP_0008803 HP:0008800 biolink:PhenotypicFeature Limited hip movement A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. UMLS:C1851542 hp.json Limited hip movement http://purl.obolibrary.org/obo/HP_0008800 HP:0008802 biolink:PhenotypicFeature Hypoplasia of the femoral head Underdevelopment of the femoral head. UMLS:C1856920 hp.json Hypoplastic femoral head|Small head of thigh bone|Small femoral heads http://purl.obolibrary.org/obo/HP_0008802 HP:0008801 biolink:PhenotypicFeature Hypoplasia of the lesser trochanter Underdevelopment of the lesser trochanter. UMLS:C1840062 hp.json Lesser trochanter hypoplasia http://purl.obolibrary.org/obo/HP_0008801 GO:0071495 biolink:BiologicalProcess cellular response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. hp.json http://purl.obolibrary.org/obo/GO_0071495 gocheck_do_not_manually_annotate HP:0008839 biolink:PhenotypicFeature Hypoplastic pelvis Underdevelopment of the bony pelvis. UMLS:C3536734 hp.json Hypoplastic pelvic bones|Small pelvis http://purl.obolibrary.org/obo/HP_0008839 hposlim_core OIO:SynonymTypeProperty biolink:NamedThing synonym_type_property hp.json http://www.geneontology.org/formats/oboInOwl#SynonymTypeProperty HP:0008838 biolink:PhenotypicFeature Stippled calcification proximal humeral epiphyses UMLS:C1857243 hp.json Speckled calcifications in end part of innermost long bone of upper arm http://purl.obolibrary.org/obo/HP_0008838 HP:0008833 biolink:PhenotypicFeature Irregular acetabular roof UMLS:C1834975 hp.json http://purl.obolibrary.org/obo/HP_0008833 HP:0008835 biolink:PhenotypicFeature Multicentric femoral head ossification There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. UMLS:C1846447 hp.json http://purl.obolibrary.org/obo/HP_0008835 HP:0008830 biolink:PhenotypicFeature Hypoplastic pubic rami UMLS:C1969176 hp.json http://purl.obolibrary.org/obo/HP_0008830 HP:0008848 biolink:PhenotypicFeature Moderately short stature A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. UMLS:C1861519 hp.json Moderate short stature|Short stature, moderate http://purl.obolibrary.org/obo/HP_0008848 GO:0034486 biolink:BiologicalProcess vacuolar transmembrane transport The process in which a solute is transported from one side of the vacuolar membrane to the other. hp.json vacuolar membrane transport http://purl.obolibrary.org/obo/GO_0034486 GO:0034487 biolink:BiologicalProcess vacuolar amino acid transmembrane transport The process in which an amino acid is transported from one side of the vacuolar membrane to the other. hp.json vacuolar amino acid membrane transport http://purl.obolibrary.org/obo/GO_0034487 HP:0008843 biolink:PhenotypicFeature Hip osteoarthritis UMLS:C0029410|SNOMEDCT_US:239872002|MSH:D015207 hp.json Osteoarthritis of hip http://purl.obolibrary.org/obo/HP_0008843 HP:0008846 biolink:PhenotypicFeature Severe intrauterine growth retardation Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. UMLS:C1855843 hp.json Severe prenatal growth deficiency|Intrauterine growth retardation, severe http://purl.obolibrary.org/obo/HP_0008846 HP:0008845 biolink:PhenotypicFeature Mesomelic short stature A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). UMLS:C1855274 hp.json Mesomelic dwarfism|Short stature, disproportionate mesomelic|Short stature, mesomelic|Dwarfism, short limb mesomelic http://purl.obolibrary.org/obo/HP_0008845 PR:Q9QXH4 biolink:Protein integrin alpha-X (mouse) An integrin alpha-X that is encoded in the genome of mouse. UniProtKB:Q9QXH4 hp.json Itgax|CD11c (mouse)|mITGAX|leukocyte adhesion glycoprotein p150,95 alpha chain (mouse)|CD11 antigen-like family member C (mouse)|leukocyte adhesion receptor p150,95 (mouse) http://purl.obolibrary.org/obo/PR_Q9QXH4 HP:0008819 biolink:PhenotypicFeature Narrow femoral neck An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). UMLS:C1863739 hp.json Narrow neck of thigh bone|Narrow femoral necks http://purl.obolibrary.org/obo/HP_0008819 HP:0008818 biolink:PhenotypicFeature Large iliac wing Increased size of the ilium ala. UMLS:C4024618 hp.json Large iliac wings http://purl.obolibrary.org/obo/HP_0008818 HP:0008817 biolink:PhenotypicFeature Aplastic pubic bones UMLS:C1848660 hp.json Absent pubic bones http://purl.obolibrary.org/obo/HP_0008817 HP:0008812 biolink:PhenotypicFeature Flattened femoral head An abnormally flattened femoral head. UMLS:C1860601 hp.json Flattened femoral heads|Flat head of thigh bone http://purl.obolibrary.org/obo/HP_0008812 HP:0008829 biolink:PhenotypicFeature Delayed femoral head ossification Delayed ossification of the femoral head. UMLS:C1846446|UMLS:C4280410 hp.json Delayed maturation of the head of the thigh bone http://purl.obolibrary.org/obo/HP_0008829 HP:0008826 biolink:PhenotypicFeature Dislocation of the femoral head Joint dislocation of the femoral head. UMLS:C1859446 hp.json Dislocated head of thigh bone|Dislocated femoral heads http://purl.obolibrary.org/obo/HP_0008826 HP:0008828 biolink:PhenotypicFeature Delayed proximal femoral epiphyseal ossification Developmental delay of ossification of the proximal epiphysis of the femur. UMLS:C1855222 hp.json Delayed ossification proximal femoral epiphyses|Delayed ossification of the proximal femoral epiphysis http://purl.obolibrary.org/obo/HP_0008828 HP:0008822 biolink:PhenotypicFeature Hypoplastic ischiopubic rami Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium. UMLS:C4024617 hp.json http://purl.obolibrary.org/obo/HP_0008822 HP:0008821 biolink:PhenotypicFeature Hypoplastic inferior ilia UMLS:C1837078 hp.json http://purl.obolibrary.org/obo/HP_0008821 HP:0008824 biolink:PhenotypicFeature Hypoplastic iliac body Underdevelopment of the body of ilium. UMLS:C1849034 hp.json Small iliac bodies|Hypoplastic iliac bodies http://purl.obolibrary.org/obo/HP_0008824 HP:0008823 biolink:PhenotypicFeature Hypoplastic inferior pubic rami UMLS:C1853573 hp.json http://purl.obolibrary.org/obo/HP_0008823 HP:0008820 biolink:PhenotypicFeature Absent ossification of capital femoral epiphysis Lack of ossification of the proximal epiphysis of the femur. UMLS:C1968686 hp.json Absent ossification of femoral capital epiphyses http://purl.obolibrary.org/obo/HP_0008820 CHEBI:60065 biolink:ChemicalSubstance alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-N-acylsphingosine(1-) A carbohydrate acid derivative anion that is the conjugate base of alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramide arising from deprotonation of the neuraminosyl carboxy group; major species at pH 7.3. hp.json alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramide|ganglioside GM3 (d18:1(4E)) http://purl.obolibrary.org/obo/CHEBI_60065 3_STAR CL:0002022 biolink:Cell Ly-76 high positive erythrocyte An enucleate erythrocyte that is Lyg-76-high. hp.json http://purl.obolibrary.org/obo/CL_0002022 GO:0071407 biolink:BiologicalProcess cellular response to organic cyclic compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. hp.json cellular response to organic cyclic substance http://purl.obolibrary.org/obo/GO_0071407 CL:0002028 biolink:Cell basophil mast progenitor cell A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa hp.json BMCP http://purl.obolibrary.org/obo/CL_0002028 CHEBI:25741 biolink:ChemicalSubstance oxide An oxide is a chemical compound of oxygen with other chemical elements. hp.json oxide|oxides http://purl.obolibrary.org/obo/CHEBI_25741 3_STAR CHEBI:60073 biolink:ChemicalSubstance N-acylneuraminate A sialic acid anion arising from deprotonation of the carboxy group of an N-acylneuraminic acid; major species at pH 7.3. hp.json N-acylneuraminate cation|an N-acylneuraminate|5-alkanamido-3,5-dideoxy-D-glycero-D-galacto-non-2-ulopyranosonate http://purl.obolibrary.org/obo/CHEBI_60073 3_STAR CL:0002034 biolink:Cell long term hematopoietic stem cell A hematopoietic stem cell with long term self renewal capability. This cell is Kit-positive, Sca1-positive, CD150-positive, CD90-low, CD34-negative and Flt3-negative. hp.json LT-HSC|LT stem cell http://purl.obolibrary.org/obo/CL_0002034 CL:0002033 biolink:Cell short term hematopoietic stem cell A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative. hp.json ST-HSC|ST stem cell http://purl.obolibrary.org/obo/CL_0002033 CL:0002036 biolink:Cell Slamf1-positive multipotent progenitor cell A hematopoietic progenitor that has some limited self-renewal capability. Cells are lin-negative, Kit-positive, CD34-positive, and Slamf1-positive. hp.json KSL cell http://purl.obolibrary.org/obo/CL_0002036 CL:0002035 biolink:Cell Slamf1-negative multipotent progenitor cell A hematopoietic progenitor that has restricted self-renewal capability. Cell is Kit-positive, Ly6-positive, CD150-negative and Flt3-negative. hp.json http://purl.obolibrary.org/obo/CL_0002035 CL:0002032 biolink:Cell hematopoietic oligopotent progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. hp.json http://purl.obolibrary.org/obo/CL_0002032 CL:0002031 biolink:Cell hematopoietic lineage restricted progenitor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. hp.json http://purl.obolibrary.org/obo/CL_0002031 CHEBI:25710 biolink:ChemicalSubstance organophosphorus compound An organophosphorus compound is formally a compound containing at least one carbon-phosphorus bond, but the term is often extended to include esters and thioesters. Wikipedia:Organophosphorus_compound hp.json organophosphorus compound|organophosphorus compounds http://purl.obolibrary.org/obo/CHEBI_25710 3_STAR CL:0002009 biolink:Cell macrophage dendritic cell progenitor A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. hp.json MDP http://purl.obolibrary.org/obo/CL_0002009 CL:0002001 biolink:Cell CD34-positive, CD38-positive granulocyte monocyte progenitor A granulocyte monocyte progenitor is CD34-positive, CD38-positive, IL-3receptor-alpha-positive and is CD45RA-negative. hp.json http://purl.obolibrary.org/obo/CL_0002001 CL:0002000 biolink:Cell Kit-positive erythroid progenitor cell An erythroid progenitor cell is Kit-positive, Ly6A-negative, CD41-negative, CD127-negative, and CD123-negative. This cell type is also described as being lin-negative, Kit-positive, CD150-negative, CD41-negative, CD105-positive, and FcgR-negative. hp.json c- Kit-positive erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0002000 CL:0002005 biolink:Cell CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell A megakaryocyte erythroid progenitor cell is CD34-positive, CD38-positive and is IL3-receptor alpha-negative and CD45RA-negative. hp.json http://purl.obolibrary.org/obo/CL_0002005 CL:0002006 biolink:Cell Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell A megakaryocyte erythroid progenitor cell that is Kit-positive and is Sca1-negative, CD34-negative, CD90-negative, IL7r-alpha-negative and Fcgr II/III-low. hp.json http://purl.obolibrary.org/obo/CL_0002006 UBERON:0002588 biolink:AnatomicalEntity decussation of superior cerebellar peduncle Regional part of superior cerebellar peduncle located in the caudal midbrain, at the level of the inferior colliculus, consisting of a large bundle of fibers crossing the midline. It contains fibers projecting from the deep cerebellar nucleus to the midbrain and thalamus through the superior cerebellar peduncle (MM). The decussation of superior cerebellar peduncle is the portion of the superior cerebellar peduncle which crosses into the midbrain. [WP,unvetted]. HBA:265505482|BAMS:dscp|DHBA:12337|BIRNLEX:1089|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=527|BAMS:xscp|UMLS:C0152374|MBA:812|FMA:72455|BM:BCX hp.json decussation of superior cerebellar peduncles|descussation of the scp|decussatio brachii conjunctivi|decussatio pedunculorum cerebellarium superiorum|decussation of the superior cerebellar peduncle (Wernekinck)|Wernekink's decussation|decussatio crurorum cerebello-cerebralium|decussation of brachium conjunctivum|superior cerebellar peduncle decussation|decussation of the superior cerebellar peduncle http://purl.obolibrary.org/obo/UBERON_0002588 uberon_slim GO:0071425 biolink:BiologicalProcess hematopoietic stem cell proliferation The expansion of a hematopoietic stem cell population by cell division. A hematopoietic stem cell is a stem cell from which all cells of the lymphoid and myeloid lineages develop. hp.json hemopoietic stem cell proliferation http://purl.obolibrary.org/obo/GO_0071425 UBERON:0002589 biolink:AnatomicalEntity lateral corticospinal tract Part of the corticospinal tract located in the spinal cord, formed as 75 to 90% of the corticospinal fibers cross to the opposite side of the brainstem in the pyramidal decussation. This tract descends the length of the spinal cord in the lateral white column (Adapted from Brain Info). MBA:1019|DHBA:12759|NCIT:C32406|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=801|BAMS:py|FMA:72635|EMAPA:37888|BAMS:lcsp|BIRNLEX:1095|UMLS:C0152402 hp.json fasciculus cerebrospinalis lateralis|lateral corticospinal tract of the medulla|tractus corticospinalis (pyramidalis) lateralis|crossed corticospinal tract|pyramidal tract, crossed|corticospinal tract, crossed|crossed pyramidal tract|corticospinal tract, crossed|lateral pyramidal tract|tractus corticospinalis lateralis|lateral corticospinal tract http://purl.obolibrary.org/obo/UBERON_0002589 uberon_slim|pheno_slim CL:0002019 biolink:Cell Ly-76 high reticulocyte A reticulocyte that is Ly76-high and is Kit-negative. hp.json http://purl.obolibrary.org/obo/CL_0002019 PR:000008175 biolink:Protein glucose-6-phosphate isomerase A protein that is a translation product of the human GPI gene or a 1:1 ortholog thereof. hp.json NLK|sperm antigen 36|SA-36|PGI|GPI|phosphoglucose isomerase|PHI|phosphohexose isomerase|neuroleukin|AMF|autocrine motility factor|Gpi1 http://purl.obolibrary.org/obo/PR_000008175 CL:0002012 biolink:Cell Kit-low proerythroblast A proerythoblast that is Kit-low, Lyg76-positive, and CD71-positive. hp.json http://purl.obolibrary.org/obo/CL_0002012 CL:0002014 biolink:Cell Kit-negative, Ly-76 high basophilic erythroblast A basophilic erythroblast that is Lyg 76-high and is Kit-negative. hp.json http://purl.obolibrary.org/obo/CL_0002014 CL:0002015 biolink:Cell Kit-negative, Ly-76 high polychromatophilic erythroblast A polychromatophilic erythroblast that is Lyg 76-high and is Kit-negative. hp.json late basophilic and polychromatophilic erythroblast http://purl.obolibrary.org/obo/CL_0002015 GO:0071418 biolink:BiologicalProcess cellular response to amine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amine stimulus. An amine is a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. hp.json http://purl.obolibrary.org/obo/GO_0071418 GO:0071417 biolink:BiologicalProcess cellular response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. hp.json cellular response to organic nitrogen http://purl.obolibrary.org/obo/GO_0071417 CL:0002017 biolink:Cell Kit-negative, Ly-76 high orthochromatophilic erythroblasts An orthochromatophilic erythroblast that is ter119-high, CD71-low, and Kit-negative. hp.json http://purl.obolibrary.org/obo/CL_0002017 CHEBI:25728 biolink:ChemicalSubstance osmolyte A solute used by a cell under water stress to maintain cell volume. hp.json osmolytes http://purl.obolibrary.org/obo/CHEBI_25728 3_STAR HP:0031180 biolink:PhenotypicFeature Erythema migrans An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter). hp.json Erythema chronicum migrans http://purl.obolibrary.org/obo/HP_0031180 GO:0046483 biolink:BiologicalProcess heterocycle metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). hp.json heterocycle metabolism http://purl.obolibrary.org/obo/GO_0046483 goslim_pir HP:0031181 biolink:PhenotypicFeature Necrolytic migratory erythema Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution. hp.json http://purl.obolibrary.org/obo/HP_0031181 HP:0031188 biolink:PhenotypicFeature Genital edema A buildup of fluid that causes swelling in the soft tissues of the genital area. hp.json Genital oedema http://purl.obolibrary.org/obo/HP_0031188 HP:0031189 biolink:PhenotypicFeature Wrist drop A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. hp.json http://purl.obolibrary.org/obo/HP_0031189 HP:0031185 biolink:PhenotypicFeature Increased circulating NT-proBNP concentration An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP). hp.json Increased NT-proBNP level http://purl.obolibrary.org/obo/HP_0031185 HP:0031186 biolink:PhenotypicFeature Abnormal circulating deoxycorticosterone level An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone. hp.json http://purl.obolibrary.org/obo/HP_0031186 HP:0031187 biolink:PhenotypicFeature Abnormal circulating pregnenolone concentration An abnormality of the concentration of pregnenolone in the blood. hp.json Abnormality of circulating pregnenolone level http://purl.obolibrary.org/obo/HP_0031187 HP:0031191 biolink:PhenotypicFeature Deep dermal perivascular inflammatory infiltrate Numerous lymphocytes surrounding blood vessels in the deep part of the dermis. hp.json Deep perivascular inflammatory infiltrate http://purl.obolibrary.org/obo/HP_0031191 HP:0031192 biolink:PhenotypicFeature Abnormal morphology of left ventricular trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). hp.json http://purl.obolibrary.org/obo/HP_0031192 HP:0031193 biolink:PhenotypicFeature Abnormal morphology of right ventricular trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae). hp.json http://purl.obolibrary.org/obo/HP_0031193 HP:0031194 biolink:PhenotypicFeature Increased density of left ventricular trabeculae An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae). hp.json http://purl.obolibrary.org/obo/HP_0031194 CHEBI:25703 biolink:ChemicalSubstance organic phosphate Wikipedia:Organophosphate hp.json organic phosphate esters|organophosphate ester|organophosphate esters|organic phosphate|organic phosphate ester|organic phosphates http://purl.obolibrary.org/obo/CHEBI_25703 3_STAR CHEBI:25701 biolink:ChemicalSubstance organic oxide An oxide in which the oxygen atom is bonded to a carbon atom. hp.json organic oxides http://purl.obolibrary.org/obo/CHEBI_25701 3_STAR HP:0031190 biolink:PhenotypicFeature Superficial dermal perivascular inflammatory infiltrate Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis. hp.json Superficial perivascular inflammatory infiltrate http://purl.obolibrary.org/obo/HP_0031190 HP:0031199 biolink:PhenotypicFeature Acellular urinary casts A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells. hp.json Acellular casts http://purl.obolibrary.org/obo/HP_0031199 HP:0031195 biolink:PhenotypicFeature Apical hypertrabeculation of the left ventricle An increased number and density of the trabeculae in the apex (tip) of the left ventricle. hp.json http://purl.obolibrary.org/obo/HP_0031195 HP:0031196 biolink:PhenotypicFeature Thin myocardium compact layer Reduced thickness of the outer, dense layer of the myocardium. hp.json http://purl.obolibrary.org/obo/HP_0031196 HP:0031197 biolink:PhenotypicFeature Cellular urinary casts A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells). hp.json Cellular casts http://purl.obolibrary.org/obo/HP_0031197 HP:0031198 biolink:PhenotypicFeature Renal tubular epithelial cell casts A type of cellular urinary cast composed of renal tubular epithelial cells. hp.json http://purl.obolibrary.org/obo/HP_0031198 CHEBI:25704 biolink:ChemicalSubstance organic sulfate Compounds of the general formula SO3HOR where R is an organyl group hp.json organic sulfates http://purl.obolibrary.org/obo/CHEBI_25704 3_STAR OIO:hasExactSynonym biolink:NamedThing has_exact_synonym hp.json http://www.geneontology.org/formats/oboInOwl#hasExactSynonym CHEBI:84087 biolink:ChemicalSubstance human urinary metabolite Any metabolite (endogenous or exogenous) found in human urine samples. hp.json human urinary metabolites http://purl.obolibrary.org/obo/CHEBI_84087 3_STAR HP:0100006 biolink:PhenotypicFeature Neoplasm of the central nervous system A neoplasm of the central nervous system. SNOMEDCT_US:126951006|UMLS:C0085136|MSH:D016543|NCIT:C3262 hp.json Neoplasia of the central nervous system|Tumors of the central nervous system|Tumours of the central nervous system|Neoplasm of the CNS http://purl.obolibrary.org/obo/HP_0100006 UBERON:0004819 biolink:AnatomicalEntity kidney epithelium The cellular avascular layer of the kidney luminar surfaces. CALOHA:TS-0505|BTO:0000059|EMAPA:35457|MA:0002846 hp.json epithelium of kidney|renal epithelium|kidney epithelial tissue|epithelial tissue of kidney http://purl.obolibrary.org/obo/UBERON_0004819 pheno_slim HP:0100007 biolink:PhenotypicFeature Neoplasm of the peripheral nervous system A benign or malignant neoplasm (tumour) of the peripheral nervous system. SNOMEDCT_US:126980002|NCIT:C3262|MSH:D010524|UMLS:C0031118 hp.json Tumor of the peripheral nervous system|Tumour of the peripheral nervous system http://purl.obolibrary.org/obo/HP_0100007 HP:0100004 biolink:PhenotypicFeature Pericardial mesothelioma A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart). NCIT:C3234|UMLS:C1335381 hp.json http://purl.obolibrary.org/obo/HP_0100004 UBERON:0004817 biolink:AnatomicalEntity lacrimal gland epithelium An epithelium that is part of a lacrimal gland [Automatically generated definition]. MA:0001297|EMAPA:36515 hp.json epithelial tissue of lacrimal gland|epithelium of lacrimal gland|lacrimal gland epithelial tissue http://purl.obolibrary.org/obo/UBERON_0004817 HP:0100005 biolink:PhenotypicFeature Testicular mesothelioma A Malignant mesothelioma of the testis. NCIT:C3234|UMLS:C4022391 hp.json http://purl.obolibrary.org/obo/HP_0100005 UBERON:0004815 biolink:AnatomicalEntity lower respiratory tract epithelium An epithelium that is part of a lower respiratory tract [Automatically generated definition]. MA:0001481|EMAPA:37549 hp.json epithelial tissue of lower respiratory tract|lower respiratory tract epithelial tissue|epithelium of lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0004815 HP:0100002 biolink:PhenotypicFeature Pleural mesothelioma A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma. NCIT:C3234|SNOMEDCT_US:254645002|UMLS:C0812413 hp.json http://purl.obolibrary.org/obo/HP_0100002 HP:0100003 biolink:PhenotypicFeature Peritoneal mesothelioma A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma. UMLS:C0346109|NCIT:C3234|SNOMEDCT_US:109853004 hp.json http://purl.obolibrary.org/obo/HP_0100003 UBERON:0004816 biolink:AnatomicalEntity larynx epithelium An epithelium that is part of a larynx [Automatically generated definition]. UMLS:C0751258|NCIT:C49247|EHDAA2:0004065|MA:0001765|EMAPA:35472 hp.json epithelial tissue of larynx|epithelium of larynx|larynx epithelial tissue|laryngeal epithelium http://purl.obolibrary.org/obo/UBERON_0004816 pheno_slim UBERON:0004813 biolink:AnatomicalEntity seminiferous tubule epithelium The stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule. BTO:0001811|EHDAA:8148|MESH:D012670|CALOHA:TS-0920|MA:0001748|VHOG:0000631|RETIRED_EHDAA2:0002009|UMLS:C0036629|NCIT:C49296|EMAPA:35761|GAID:401|FMA:19885 hp.json epithelium of seminiferous tubule|testis germinal epithelium|epithelial tissue of seminiferous tubule|male germinal epithelium|seminiferous tubule epithelial tissue|wall of seminiferous tubule|epithelium of seminiferous tubule of testis|germinal epithelium (male)|seminiferous epithelium|epithelial tissue of seminiferous tubule of testis http://purl.obolibrary.org/obo/UBERON_0004813 pheno_slim HP:0100000 biolink:PhenotypicFeature Early onset of sexual maturation An early onset of puberty, in this case early does not refer to precocious. UMLS:C4022392 hp.json Early onset of sexual maturation http://purl.obolibrary.org/obo/HP_0100000 HP:0100001 biolink:PhenotypicFeature Malignant mesothelioma Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer. UMLS:C0345967|SNOMEDCT_US:62064005|MSH:C562839 hp.json http://purl.obolibrary.org/obo/HP_0100001 UBERON:0004814 biolink:AnatomicalEntity upper respiratory tract epithelium An epithelium that is part of a upper respiratory tract [Automatically generated definition]. MA:0001912|EMAPA:35894 hp.json upper respiratory tract epithelial tissue|epithelium of upper respiratory tract|epithelial tissue of upper respiratory tract http://purl.obolibrary.org/obo/UBERON_0004814 GO:0034613 biolink:BiologicalProcess cellular protein localization Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. hp.json channel localizer activity|cellular protein localisation http://purl.obolibrary.org/obo/GO_0034613 GO:0010646 biolink:BiologicalProcess regulation of cell communication Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. hp.json http://purl.obolibrary.org/obo/GO_0010646 GO:0010647 biolink:BiologicalProcess positive regulation of cell communication Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. hp.json http://purl.obolibrary.org/obo/GO_0010647 GO:0010648 biolink:BiologicalProcess negative regulation of cell communication Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. hp.json http://purl.obolibrary.org/obo/GO_0010648 GO:0009653 biolink:BiologicalProcess anatomical structure morphogenesis The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. Wikipedia:Morphogenesis hp.json morphogenesis|anatomical structure organization|embryogenesis and morphogenesis http://purl.obolibrary.org/obo/GO_0009653 HP:0041181 biolink:PhenotypicFeature Fractured distal phalanx of pedal digit 3 A partial or complete breakage of the distal phalanx of pedal digit 3. hp.json bone distal phalanx of pedal digit 3 http://purl.obolibrary.org/obo/HP_0041181 HP:0041182 biolink:PhenotypicFeature Fractured middle phalanx of manual digit 2 A partial or complete breakage of the middle phalanx of manual digit 2. hp.json bone middle phalanx of manual digit 2 http://purl.obolibrary.org/obo/HP_0041182 HP:0041180 biolink:PhenotypicFeature Fractured distal phalanx of pedal digit 1 A partial or complete breakage of the distal phalanx of pedal digit 1. hp.json bone distal phalanx of pedal digit 1 http://purl.obolibrary.org/obo/HP_0041180 UBERON:0004822 biolink:AnatomicalEntity extrahepatic bile duct epithelium An epithelium that is part of a extrahepatic bile duct [Automatically generated definition]. UMLS:C1711347|NCIT:C43618|EHDAA:3051|EHDAA2:0000742|MA:0002661 hp.json epithelial tissue of extrahepatic bile duct|epithelium of extrahepatic bile duct|extrahepatic bile duct epithelial tissue http://purl.obolibrary.org/obo/UBERON_0004822 HP:0041185 biolink:PhenotypicFeature Fractured middle phalanx of manual digit 5 A partial or complete breakage of the middle phalanx of manual digit 5. hp.json bone middle phalanx of manual digit 5 http://purl.obolibrary.org/obo/HP_0041185 UBERON:0004823 biolink:AnatomicalEntity intrahepatic bile duct epithelium An epithelium that is part of a intrahepatic bile duct [Automatically generated definition]. EHDAA:3053|NCIT:C43617|UMLS:C1708552|EHDAA2:0000743|MA:0002662 hp.json epithelial tissue of intrahepatic bile duct|epithelium of intrahepatic bile duct|intrahepatic bile duct epithelial tissue http://purl.obolibrary.org/obo/UBERON_0004823 HP:0041186 biolink:PhenotypicFeature Fractured middle phalanx of pedal digit 3 A partial or complete breakage of the middle phalanx of pedal digit 3. hp.json bone middle phalanx of pedal digit 3 http://purl.obolibrary.org/obo/HP_0041186 UBERON:0004820 biolink:AnatomicalEntity bile duct epithelium Any epithelium that lines one of the bile ducts. MA:0001629|NCIT:C43616|UMLS:C1711208|BTO:0000417 hp.json epithelium of bile duct|epithelium of biliary duct|biliary duct epithelium http://purl.obolibrary.org/obo/UBERON_0004820 pheno_slim HP:0041183 biolink:PhenotypicFeature Fractured middle phalanx of manual digit 3 A partial or complete breakage of the middle phalanx of manual digit 3. hp.json bone middle phalanx of manual digit 3 http://purl.obolibrary.org/obo/HP_0041183 UBERON:0004821 biolink:AnatomicalEntity pulmonary alveolus epithelium The epithelial layer of the alveoli[MP]. The layer of cells covering the lining of the tiny air sacs at the end of the bronchioles[BTO]. BTO:0003511|FMA:63915|NCIT:C12867|EMAPA:35121|MA:0001771 hp.json epithelial tissue of alveolus|epithelium of alveolus|pulmonary alveolus epithelium|pulmonary alveolar epithelium|epithelium of pulmonary alveolus|alveolus epithelial tissue|alveolar epithelium|alveolus epithelium http://purl.obolibrary.org/obo/UBERON_0004821 pheno_slim HP:0041184 biolink:PhenotypicFeature Fractured middle phalanx of manual digit 4 A partial or complete breakage of the middle phalanx of manual digit 4. hp.json bone middle phalanx of manual digit 4 http://purl.obolibrary.org/obo/HP_0041184 HP:0041189 biolink:PhenotypicFeature Fractured epiphysis of femur A partial or complete breakage of the epiphysis of femur. hp.json bone epiphysis of femur http://purl.obolibrary.org/obo/HP_0041189 HP:0100008 biolink:PhenotypicFeature Schwannoma A benign nerve sheath tumor composed of Schwann cells. MSH:D009442|SNOMEDCT_US:985004|UMLS:C0027809|SNOMEDCT_US:404022001 hp.json Schwann cell tumour|Neurolemmoma|Schwann cell tumor|Schwannomas|Neurinoma|Neurilemmoma http://purl.obolibrary.org/obo/HP_0100008 HP:0041187 biolink:PhenotypicFeature Fractured proximal phalanx of pedal digit 1 A partial or complete breakage of the proximal phalanx of pedal digit 1. hp.json bone proximal phalanx of pedal digit 1 http://purl.obolibrary.org/obo/HP_0041187 HP:0100009 biolink:PhenotypicFeature Intracranial meningioma SNOMEDCT_US:302820008|MSH:D008579|UMLS:C0349604 hp.json http://purl.obolibrary.org/obo/HP_0100009 HP:0041188 biolink:PhenotypicFeature Fractured proximal phalanx of manual digit 1 A partial or complete breakage of the proximal phalanx of manual digit 1. hp.json bone proximal phalanx of manual digit 1 http://purl.obolibrary.org/obo/HP_0041188 HP:0100017 biolink:PhenotypicFeature Capsular cataract A cataract that affects the capsule of the lens. SNOMEDCT_US:204125003|UMLS:C0339352 hp.json http://purl.obolibrary.org/obo/HP_0100017 UBERON:0004808 biolink:AnatomicalEntity gastrointestinal system epithelium An epithelium that is part of a digestive system [Automatically generated definition]. MA:0001520|EMAPA:32683 hp.json epithelium of gastrointestinal system|epithelial tissue of digestive system|epithelial tissue of gastrointestinal system|digestive system epithelium|epithelium of digestive system|gastrointestinal system epithelial tissue|digestive system epithelial tissue http://purl.obolibrary.org/obo/UBERON_0004808 UBERON:0004809 biolink:AnatomicalEntity salivary gland epithelium An epithelium that is part of a salivary gland [Automatically generated definition]. EMAPA:32816|MA:0001587|CALOHA:TS-2067|BTO:0004421 hp.json salivary gland epithelial tissue|epithelial tissue of salivary gland|epithelium of salivary gland http://purl.obolibrary.org/obo/UBERON_0004809 pheno_slim HP:0100018 biolink:PhenotypicFeature Nuclear cataract A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. UMLS:C0392557|SNOMEDCT_US:53889007 hp.json Yellowish cloudy center of lens|Yellowish cloudy centre of lens http://purl.obolibrary.org/obo/HP_0100018 hposlim_core UBERON:0004806 biolink:AnatomicalEntity vas deferens epithelium An epithelium that is part of a vas deferens [Automatically generated definition]. UMLS:C1710617|NCIT:C49315|EMAPA:29274|MA:0001749|FMA:225317 hp.json vas deferen epithelial tissue|vas deferens epithelial tissue|sperm duct epithelial tissue|sperm duct epithelium|epithelium of deferent duct|epithelium of ductus deferens|epithelial tissue of deferent duct|epithelial tissue of ductus deferens|vas deferen epithelium|epithelial tissue of vas deferens|deferent duct epithelial tissue|epithelial tissue of sperm duct|epithelium of vas deferen|ductus deferens epithelial tissue|epithelium of vas deferens|epithelial tissue of vas deferen|ductus deferens epithelium|epithelium of sperm duct|deferent duct epithelium http://purl.obolibrary.org/obo/UBERON_0004806 HP:0100015 biolink:PhenotypicFeature Stahl ear The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix. UMLS:C1862689|SNOMEDCT_US:253252004 hp.json Additional crus|Third crus http://purl.obolibrary.org/obo/HP_0100015 UBERON:0004807 biolink:AnatomicalEntity respiratory system epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. EMAPA:32826|MA:0001823|VHOG:0000981|CALOHA:TS-0023 hp.json apparatus respiratorius epithelium|epithelium of apparatus respiratorius|epithelial tissue of apparatus respiratorius|epithelial tissue of respiratory system|epithelium of respiratory system|apparatus respiratorius epithelial tissue|respiratory system epithelial tissue http://purl.obolibrary.org/obo/UBERON_0004807 pheno_slim HP:0100016 biolink:PhenotypicFeature Abnormality of mesentery morphology Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). UMLS:C4022389 hp.json Abnormality of the mesentery http://purl.obolibrary.org/obo/HP_0100016 HP:0100013 biolink:PhenotypicFeature Neoplasm of the breast A tumor (abnormal growth of tissue) of the breast. SNOMEDCT_US:126926005|NCIT:C3262|MSH:D001943|UMLS:C1458155 hp.json Tumours of the breast|Neoplasia of the breast|Breast tumor|Breast tumour http://purl.obolibrary.org/obo/HP_0100013 UBERON:0004804 biolink:AnatomicalEntity oviduct epithelium An epithelium that is part of a oviduct [Automatically generated definition]. EMAPA:29043|BTO:0002402|MA:0001718|CALOHA:TS-1316 hp.json epithelium of fallopian tube|epithelium of uterine tube|columnar epithelium of the fallopian tube|fallopian tube epithelium|epithelium of oviduct|epithelial tissue of oviduct|columnar epithelium of the oviduct|oviduct epithelial tissue http://purl.obolibrary.org/obo/UBERON_0004804 human_reference_atlas GO:0007009 biolink:BiologicalProcess plasma membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. hp.json plasma membrane organization and biogenesis|plasma membrane organisation http://purl.obolibrary.org/obo/GO_0007009 goslim_chembl HP:0100014 biolink:PhenotypicFeature Epiretinal membrane An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy. SNOMEDCT_US:133853005|MSH:D019773|SNOMEDCT_US:367649002|UMLS:C0339543 hp.json Epiretinal membranes|Premacular fibrosis|Macular pucker http://purl.obolibrary.org/obo/HP_0100014 UBERON:0004805 biolink:AnatomicalEntity seminal vesicle epithelium An epithelium that is part of a seminal vesicle [Automatically generated definition]. EMAPA:29771|UMLS:C1710049|MA:0001745|NCIT:C49295|CALOHA:TS-2069 hp.json epithelium of seminal gland|seminal vesicle epithelial tissue|seminal gland epithelium|epithelial tissue of seminal gland|seminal gland epithelial tissue|epithelium of seminal vesicle|epithelial tissue of seminal vesicle http://purl.obolibrary.org/obo/UBERON_0004805 HP:0100011 biolink:PhenotypicFeature Scleral schwannoma NCIT:C3269|UMLS:C4022390 hp.json http://purl.obolibrary.org/obo/HP_0100011 UBERON:0004802 biolink:AnatomicalEntity respiratory tract epithelium The pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. MA:0001480|SCTID:321764001|VHOG:0000981|BTO:0000419|CALOHA:TS-0023|EMAPA:32827 hp.json respiratory epithelium|epithelial tissue of respiratory tract|respiratory tract epithelial tissue|airway epithelium|epithelium of respiratory tract http://purl.obolibrary.org/obo/UBERON_0004802 pheno_slim HP:0100012 biolink:PhenotypicFeature Neoplasm of the eye A tumor (abnormal growth of tissue) of the eye. UMLS:C0015414|MSH:D005134|SNOMEDCT_US:371486001|NCIT:C3262 hp.json Eye tumor|Neoplasia of the eye|Eye tumour http://purl.obolibrary.org/obo/HP_0100012 UBERON:0004803 biolink:AnatomicalEntity penis epithelium An epithelium that is part of a penis [Automatically generated definition]. EHDAA2:0004039|EMAPA:35674|MA:0001742 hp.json penis epithelial tissue|epithelium of penis|epithelial tissue of penis http://purl.obolibrary.org/obo/UBERON_0004803 GO:0007006 biolink:BiologicalProcess mitochondrial membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion. hp.json mitochondrial membrane organisation|mitochondrial membrane organization and biogenesis http://purl.obolibrary.org/obo/GO_0007006 GO:0007005 biolink:BiologicalProcess mitochondrion organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. hp.json mitochondrion organization and biogenesis|mitochondria organization|mitochondrion organisation http://purl.obolibrary.org/obo/GO_0007005 goslim_drosophila|goslim_chembl|goslim_generic|goslim_yeast|goslim_pombe|goslim_pir GO:0010657 biolink:BiologicalProcess muscle cell apoptotic process A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a muscle cell and result in its death. A muscle cell is a mature contractile cell, commonly known as a myocyte, that forms one of three kinds of muscle. hp.json muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010657 HP:0100010 biolink:PhenotypicFeature Spinal meningioma MSH:D008579|UMLS:C0347515|NCIT:C3230|SNOMEDCT_US:189167009 hp.json http://purl.obolibrary.org/obo/HP_0100010 GO:0010658 biolink:BiologicalProcess striated muscle cell apoptotic process A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a striated muscle cell and result in its death. Striated muscle cells make up striated muscle fibers which are divided by transverse bands into striations. hp.json striated muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010658 GO:0010656 biolink:BiologicalProcess negative regulation of muscle cell apoptotic process Any process that decreases the rate or frequency of muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a muscle cell and result in its death. hp.json negative regulation of muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010656 GO:0007000 biolink:BiologicalProcess nucleolus organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleolus. hp.json nucleolus organization and biogenesis|nucleolus organisation http://purl.obolibrary.org/obo/GO_0007000 GO:0010659 biolink:BiologicalProcess cardiac muscle cell apoptotic process A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a cardiac muscle cell and result in its death. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. hp.json cardiac muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010659 HP:0041192 biolink:PhenotypicFeature Fractured epiphysis of fourth metacarpal bone A partial or complete breakage of the epiphysis of fourth metacarpal bone. hp.json bone epiphysis of fourth metacarpal bone http://purl.obolibrary.org/obo/HP_0041192 HP:0041193 biolink:PhenotypicFeature Fractured epiphysis of first metatarsal bone A partial or complete breakage of the epiphysis of first metatarsal bone. hp.json bone epiphysis of first metatarsal bone http://purl.obolibrary.org/obo/HP_0041193 HP:0041190 biolink:PhenotypicFeature Fractured epiphysis of second metacarpal bone A partial or complete breakage of the epiphysis of second metacarpal bone. hp.json bone epiphysis of second metacarpal bone http://purl.obolibrary.org/obo/HP_0041190 HP:0041191 biolink:PhenotypicFeature Fractured epiphysis of third metacarpal bone A partial or complete breakage of the epiphysis of third metacarpal bone. hp.json bone epiphysis of third metacarpal bone http://purl.obolibrary.org/obo/HP_0041191 UBERON:0004811 biolink:AnatomicalEntity endometrium epithelium An epithelium that is part of an endometrium [Automatically generated definition]. EMAPA:35307|SCTID:253526009|MA:0002731 hp.json uterine epithelium|uterine epithelium|epithelium of tunica mucosa of endometrium|epithelium of endometrium|epithelial tissue of endometrium|endometrium epithelial tissue http://purl.obolibrary.org/obo/UBERON_0004811 pheno_slim HP:0041196 biolink:PhenotypicFeature Fractured distal epiphysis of radius A partial or complete breakage of the distal epiphysis of radius. hp.json bone distal epiphysis of radius http://purl.obolibrary.org/obo/HP_0041196 UBERON:0004812 biolink:AnatomicalEntity male prepuce epithelium An epithelium that is part of a prepuce of penis [Automatically generated definition]. EMAPA:30655|UMLS:C1709639|MA:0001753|NCIT:C49270 hp.json epithelium of foreskin|prepuce of penis epithelial tissue|prepuce epithelial tissue|epithelial tissue of penile prepuce|penile prepuce epithelium|epithelium of penile prepuce|foreskin epithelial tissue|epithelial tissue of prepuce of penis|epithelium of prepuce of penis|prepuce epithelium|foreskin epithelium|epithelium of prepuce|penile prepuce epithelial tissue|prepuce of penis epithelium|epithelial tissue of foreskin|epithelial tissue of prepuce http://purl.obolibrary.org/obo/UBERON_0004812 HP:0041197 biolink:PhenotypicFeature Fractured proximal epiphysis of first metacarpal bone A partial or complete breakage of the proximal epiphysis of first metacarpal bone. hp.json bone proximal epiphysis of first metacarpal bone http://purl.obolibrary.org/obo/HP_0041197 HP:0041194 biolink:PhenotypicFeature Fractured epiphysis of second metatarsal bone A partial or complete breakage of the epiphysis of second metatarsal bone. hp.json bone epiphysis of second metatarsal bone http://purl.obolibrary.org/obo/HP_0041194 UBERON:0004810 biolink:AnatomicalEntity nephron tubule epithelium The cellular avascular layer of the renal tubule luminar surfaces. MA:0001681|UMLS:C1709902|BTO:0005239|EMAPA:36524|NCIT:C49276 hp.json kidney tubule epithelium http://purl.obolibrary.org/obo/UBERON_0004810 pheno_slim HP:0041195 biolink:PhenotypicFeature Fractured epiphysis of third metatarsal bone A partial or complete breakage of the epiphysis of third metatarsal bone. hp.json bone epiphysis of third metatarsal bone http://purl.obolibrary.org/obo/HP_0041195 HP:0041198 biolink:PhenotypicFeature Fractured proximal epiphysis of middle phalanx of manual digit 3 A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3. hp.json bone proximal epiphysis of middle phalanx of manual digit 3 http://purl.obolibrary.org/obo/HP_0041198 HP:0100019 biolink:PhenotypicFeature Cortical cataract A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. UMLS:C0271160|SNOMEDCT_US:193576003 hp.json http://purl.obolibrary.org/obo/HP_0100019 hposlim_core HP:0041199 biolink:PhenotypicFeature Fractured interphalangeal joint A partial or complete breakage of the interphalangeal joint. hp.json bone interphalangeal joint http://purl.obolibrary.org/obo/HP_0041199 HP:0100028 biolink:PhenotypicFeature Ectopic thyroid Mislocalised thyroid gland. UMLS:C0266283|MSH:D050033|SNOMEDCT_US:214660000 hp.json Aberrant thyroid gland|Ectopic thyroid gland|Heteropic thyroid gland|Abnormal thryoid location|Aberrant thyroid http://purl.obolibrary.org/obo/HP_0100028 HP:0100029 biolink:PhenotypicFeature Lingual thyroid An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend. SNOMEDCT_US:21279007|MSH:D046151|UMLS:C0266284|SNOMEDCT_US:129123002 hp.json http://purl.obolibrary.org/obo/HP_0100029 HP:0100026 biolink:PhenotypicFeature Arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. MSH:D001165|SNOMEDCT_US:24551003|SNOMEDCT_US:234141001|UMLS:C0003857 hp.json http://purl.obolibrary.org/obo/HP_0100026 HP:0100027 biolink:PhenotypicFeature Recurrent pancreatitis A recurrent form of pancreatitis. SNOMEDCT_US:233870001|MSH:D050500|UMLS:C0149521|SNOMEDCT_US:235494005|SNOMEDCT_US:234689009 hp.json Recurring pancreas inflammation|Recurring pancreatitis http://purl.obolibrary.org/obo/HP_0100027 HP:0100024 biolink:PhenotypicFeature Conspicuously happy disposition An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. UMLS:C4021029 hp.json Conspicious happy aspect|Happy aspect http://purl.obolibrary.org/obo/HP_0100024 HP:0100025 biolink:PhenotypicFeature Overfriendliness A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction. UMLS:C4022386 hp.json Overfriendliness http://purl.obolibrary.org/obo/HP_0100025 HP:0100022 biolink:PhenotypicFeature Abnormality of movement An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. MSH:D009069|UMLS:C0026650|SNOMEDCT_US:60342002 hp.json Unusual movement|Movement disorder|Abnormality of movement http://purl.obolibrary.org/obo/HP_0100022 HP:0100023 biolink:PhenotypicFeature Recurrent hand flapping A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down. UMLS:C4022387 hp.json http://purl.obolibrary.org/obo/HP_0100023 GO:0022610 biolink:NamedThing biological adhesion hp.json http://purl.obolibrary.org/obo/GO_0022610 GO:0010624 biolink:BiologicalProcess regulation of Schwann cell proliferation Any process that modulates the frequency or rate of multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. hp.json http://purl.obolibrary.org/obo/GO_0010624 HP:0100020 biolink:PhenotypicFeature Posterior capsular cataract A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. UMLS:C4022388 hp.json http://purl.obolibrary.org/obo/HP_0100020 GO:0010625 biolink:BiologicalProcess positive regulation of Schwann cell proliferation Any process that increases the frequency or rate of the multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. hp.json http://purl.obolibrary.org/obo/GO_0010625 HP:0100021 biolink:PhenotypicFeature Cerebral palsy Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. UMLS:C0007789|MSH:D002547|SNOMEDCT_US:128188000 hp.json CP|Cerebral paralysis http://purl.obolibrary.org/obo/HP_0100021 GO:0046622 biolink:BiologicalProcess positive regulation of organ growth Any process that activates or increases the frequency, rate or extent of growth of an organ of an organism. hp.json http://purl.obolibrary.org/obo/GO_0046622 GO:0010623 biolink:BiologicalProcess programmed cell death involved in cell development The activation of endogenous cellular processes that result in the death of a cell as part of its development. hp.json programmed cell death involved in development|developmental programmed cell death http://purl.obolibrary.org/obo/GO_0010623 GO:0046621 biolink:BiologicalProcess negative regulation of organ growth Any process that stops, prevents, or reduces the frequency, rate or extent of growth of an organ of an organism. hp.json http://purl.obolibrary.org/obo/GO_0046621 GO:0046620 biolink:BiologicalProcess regulation of organ growth Any process that modulates the frequency, rate or extent of growth of an organ of an organism. hp.json http://purl.obolibrary.org/obo/GO_0046620 GO:0010628 biolink:BiologicalProcess positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). hp.json http://purl.obolibrary.org/obo/GO_0010628 GO:0010629 biolink:BiologicalProcess negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). hp.json gene silencing http://purl.obolibrary.org/obo/GO_0010629 GO:0010626 biolink:BiologicalProcess negative regulation of Schwann cell proliferation Any process that decreases the frequency or extent of the multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. hp.json http://purl.obolibrary.org/obo/GO_0010626 NBO:0000280 biolink:NamedThing attraction-related behavior hp.json http://purl.obolibrary.org/obo/NBO_0000280 GO:0022613 biolink:BiologicalProcess ribonucleoprotein complex biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. hp.json ribonucleoprotein complex biogenesis and assembly|RNA-protein complex biogenesis http://purl.obolibrary.org/obo/GO_0022613 GO:0022612 biolink:BiologicalProcess gland morphogenesis The process in which the anatomical structures of a gland are generated and organized. hp.json http://purl.obolibrary.org/obo/GO_0022612 UBERON:0004801 biolink:AnatomicalEntity cervix epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. NCIT:C49218|UMLS:C1711358|EMAPA:29929|CALOHA:TS-0137|MA:0001724|BTO:0000241|EFO:0001913 hp.json cervical epithelium|epithelium of cervix|cervical canal epithelium|cervical canal epithelial tissue|cervix epithelial tissue http://purl.obolibrary.org/obo/UBERON_0004801 pheno_slim|efo_slim|human_reference_atlas CHEBI:33290 biolink:ChemicalSubstance food Any material that can be ingested by an organism. hp.json foodstuffs|food materials|food material|food role|foodstuff|foods http://purl.obolibrary.org/obo/CHEBI_33290 3_STAR GO:0009636 biolink:BiologicalProcess response to toxic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. hp.json detoxification response|toxin resistance|toxin susceptibility/resistance http://purl.obolibrary.org/obo/GO_0009636 goslim_chembl CHEBI:33292 biolink:ChemicalSubstance fuel An energy-rich substance that can be transformed with release of usable energy. hp.json http://purl.obolibrary.org/obo/CHEBI_33292 3_STAR GO:0022617 biolink:BiologicalProcess extracellular matrix disassembly A process that results in the breakdown of the extracellular matrix. hp.json http://purl.obolibrary.org/obo/GO_0022617 CHEBI:33295 biolink:ChemicalSubstance diagnostic agent A substance administered to aid diagnosis of a disease. hp.json diagnostic aid http://purl.obolibrary.org/obo/CHEBI_33295 3_STAR GO:0022618 biolink:BiologicalProcess ribonucleoprotein complex assembly The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. hp.json RNP complex assembly|RNA-protein complex assembly|protein-RNA complex assembly http://purl.obolibrary.org/obo/GO_0022618 goslim_chembl CHEBI:33296 biolink:ChemicalSubstance alkali metal molecular entity A molecular entity containing one or more atoms of an alkali metal. hp.json alkali metal molecular entities http://purl.obolibrary.org/obo/CHEBI_33296 3_STAR HP:0100039 biolink:PhenotypicFeature Thickened cortex of bones An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones. UMLS:C4022382 hp.json http://purl.obolibrary.org/obo/HP_0100039 HP:0100037 biolink:PhenotypicFeature Abnormality of the scalp hair An abnormality of the hair of head. UMLS:C4022384 hp.json Abnormality of the scalp hair http://purl.obolibrary.org/obo/HP_0100037 HP:0100038 biolink:PhenotypicFeature Slow-growing scalp hair Scalp hair whose growth is slower than normal. UMLS:C4022383 hp.json Slow-growing scalp hair http://purl.obolibrary.org/obo/HP_0100038 HP:0100035 biolink:PhenotypicFeature Phonic tics Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. MSH:D020323|UMLS:C0751901 hp.json Verbal tics|Vocal tics http://purl.obolibrary.org/obo/HP_0100035 HP:0100036 biolink:PhenotypicFeature Pseudo-fractures A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture. UMLS:C4021028 hp.json Looser zones http://purl.obolibrary.org/obo/HP_0100036 GO:0022600 biolink:BiologicalProcess digestive system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. hp.json http://purl.obolibrary.org/obo/GO_0022600 goslim_generic HP:0100033 biolink:PhenotypicFeature Tics Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement. UMLS:C2169806 hp.json Tic disorder|Tics http://purl.obolibrary.org/obo/HP_0100033 HP:0100034 biolink:PhenotypicFeature Motor tics Movement-based tics affecting discrete muscle groups. MSH:D020323|UMLS:C0751900 hp.json http://purl.obolibrary.org/obo/HP_0100034 HP:0100031 biolink:PhenotypicFeature Neoplasm of the thyroid gland A tumor (abnormal growth of tissue) of the thyroid gland. NCIT:C3262|MSH:D013964|SNOMEDCT_US:127018007|UMLS:C0040136 hp.json Neoplasia of the thyroid gland http://purl.obolibrary.org/obo/HP_0100031 GO:0010633 biolink:BiologicalProcess negative regulation of epithelial cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell migration. hp.json http://purl.obolibrary.org/obo/GO_0010633 GO:0010634 biolink:BiologicalProcess positive regulation of epithelial cell migration Any process that activates or increases the frequency, rate or extent of epithelial cell migration. hp.json http://purl.obolibrary.org/obo/GO_0010634 HP:0100030 biolink:PhenotypicFeature Accessory ectopic thyroid tissue Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. UMLS:C4022385 hp.json http://purl.obolibrary.org/obo/HP_0100030 GO:0010639 biolink:BiologicalProcess negative regulation of organelle organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. hp.json negative regulation of organelle organization and biogenesis|negative regulation of organelle organisation http://purl.obolibrary.org/obo/GO_0010639 GO:0010638 biolink:BiologicalProcess positive regulation of organelle organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. hp.json positive regulation of organelle organisation|positive regulation of organelle organization and biogenesis http://purl.obolibrary.org/obo/GO_0010638 GO:0010631 biolink:BiologicalProcess epithelial cell migration The orderly movement of an epithelial cell from one site to another, often during the development of a multicellular organism. hp.json http://purl.obolibrary.org/obo/GO_0010631 GO:0010632 biolink:BiologicalProcess regulation of epithelial cell migration Any process that modulates the frequency, rate or extent of epithelial cell migration. hp.json http://purl.obolibrary.org/obo/GO_0010632 GO:0022602 biolink:BiologicalProcess ovulation cycle process A process involved in the sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years. hp.json estrous cycle process|menstrual cycle process http://purl.obolibrary.org/obo/GO_0022602 GO:0022601 biolink:BiologicalProcess menstrual cycle phase The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur. hp.json http://purl.obolibrary.org/obo/GO_0022601 gocheck_do_not_annotate GO:0022604 biolink:BiologicalProcess regulation of cell morphogenesis Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. hp.json regulation of cell shape and cell size|negative regulation of cell shape and cell size|positive regulation of cell shape and cell size http://purl.obolibrary.org/obo/GO_0022604 GO:0022603 biolink:BiologicalProcess regulation of anatomical structure morphogenesis Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. hp.json regulation of morphogenesis http://purl.obolibrary.org/obo/GO_0022603 GO:0022607 biolink:BiologicalProcess cellular component assembly The aggregation, arrangement and bonding together of a cellular component. hp.json cell structure assembly|cellular component assembly at cellular level http://purl.obolibrary.org/obo/GO_0022607 goslim_chembl|goslim_pir HP:0041149 biolink:PhenotypicFeature Fractured navicular bone of pes A partial or complete breakage of the navicular bone of pes. hp.json bone navicular bone of pes http://purl.obolibrary.org/obo/HP_0041149 HP:0100048 biolink:PhenotypicFeature Fragmentation of the epiphyses of the 2nd toe UMLS:C4022373 hp.json Fragmentation of the end part of the 2nd toe bone http://purl.obolibrary.org/obo/HP_0100048 GO:0010608 biolink:BiologicalProcess post-transcriptional regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. hp.json posttranscriptional regulation of gene expression http://purl.obolibrary.org/obo/GO_0010608 HP:0041147 biolink:PhenotypicFeature Fractured epiphysis A partial or complete breakage of the epiphysis. hp.json bone epiphysis http://purl.obolibrary.org/obo/HP_0041147 HP:0100049 biolink:PhenotypicFeature Irregular epiphyses of the 2nd toe UMLS:C4022372 hp.json Irregular end part of the 2nd toe bone http://purl.obolibrary.org/obo/HP_0100049 UBERON:0004859 biolink:AnatomicalEntity eye gland A gland that is part of a eye. The eye is a compound unit which depending on the species may consist of an eyeballs plus associated ducts and integumentary structures. Eye glands therefore include the various types of lacrimal gland, the various types of apocrine and sebaceous glands associated with the eyelid. EMAPA:35334|MA:0000267 hp.json gland of eye|eye-associated gland|eye-associated gland http://purl.obolibrary.org/obo/UBERON_0004859 organ_slim HP:0100046 biolink:PhenotypicFeature Cone-shaped epiphyses of the 2nd toe UMLS:C4022375 hp.json Cone-shaped end part of the 2nd toe bone http://purl.obolibrary.org/obo/HP_0100046 HP:0100047 biolink:PhenotypicFeature Enlarged epiphyses of the 2nd toe UMLS:C4022374 hp.json Enlarged end part of the 2nd toe bone http://purl.obolibrary.org/obo/HP_0100047 UBERON:0004857 biolink:AnatomicalEntity skeletal muscle connective tissue A connective tissue that surrounds a skeletal muscle tissue. MA:0002868|EMAPA:37743 hp.json skeletal muscle tissue connective tissue|skeletal muscle tissue textus connectivus|skeletal muscle interstitum|skeletal muscle portion of connective tissue|textus connectivus of skeletal muscle|portion of connective tissue of skeletal muscle tissue|connective tissue of skeletal muscle tissue|skeletal muscle interstitial tissue|skeletal muscle tissue portion of connective tissue|portion of connective tissue of skeletal muscle|connective tissue of skeletal muscle|skeletal muscle textus connectivus|textus connectivus of skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0004857 HP:0100044 biolink:PhenotypicFeature Absent epiphyses of the 2nd toe UMLS:C4022377 hp.json Absent end part of the 2nd toe bone http://purl.obolibrary.org/obo/HP_0100044 HP:0100045 biolink:PhenotypicFeature Bracket epiphyses of the 2nd toe UMLS:C4022376 hp.json Bracket shaped end part of 2nd toe bone http://purl.obolibrary.org/obo/HP_0100045 OIO:hasSynonymType biolink:NamedThing has_synonym_type hp.json http://www.geneontology.org/formats/oboInOwl#hasSynonymType HP:0100042 biolink:PhenotypicFeature Broad 4th toe A broad appearance of the fourth toe. UMLS:C4022379 hp.json Wide 4th toe|Broad 4th toe http://purl.obolibrary.org/obo/HP_0100042 HP:0100043 biolink:PhenotypicFeature Broad 5th toe A broad appearance of the fifth toe. UMLS:C4022378 hp.json Broad pinky toe|Broad little toe|Broad pinkie toe|Broad 5th toe http://purl.obolibrary.org/obo/HP_0100043 HP:0100040 biolink:PhenotypicFeature Broad 2nd toe A broad appearance of the second toe. UMLS:C4022381 hp.json Wide 2nd toe http://purl.obolibrary.org/obo/HP_0100040 HP:0100041 biolink:PhenotypicFeature Broad 3rd toe A broad appearance of the third toe. UMLS:C4022380 hp.json Broad 3rd toe|Wide 3rd toe http://purl.obolibrary.org/obo/HP_0100041 GO:0010604 biolink:BiologicalProcess positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. hp.json http://purl.obolibrary.org/obo/GO_0010604 GO:0010605 biolink:BiologicalProcess negative regulation of macromolecule metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. hp.json http://purl.obolibrary.org/obo/GO_0010605 GO:0046649 biolink:BiologicalProcess lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. hp.json http://purl.obolibrary.org/obo/GO_0046649 GO:0009611 biolink:BiologicalProcess response to wounding Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. hp.json physiological response to wounding http://purl.obolibrary.org/obo/GO_0009611 GO:0009612 biolink:BiologicalProcess response to mechanical stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus. hp.json chemi-mechanical coupling|mechanical stimulus response http://purl.obolibrary.org/obo/GO_0009612 UBERON:0002203 biolink:AnatomicalEntity vasculature of eye Vasculature that is part of the eye region. TAO:0007057|FMA:74743|ZFA:0007057|SCTID:123846009 hp.json eye vascular network|eye vasculature|ocular vasculature|ocular blood vessel|optic vasculature|vascular network of eye http://purl.obolibrary.org/obo/UBERON_0002203 vertebrate_core|pheno_slim|human_reference_atlas UBERON:0002202 biolink:AnatomicalEntity submucosa of trachea A submucosa that is part of a trachea. NCIT:C49307|MA:0001860|FMA:7472|EMAPA:35879|BTO:0002115|UMLS:C0225586 hp.json submucosa of windpipe|submucous layer of trachea|tracheal submucosa|windpipe submucosa|trachea submucosa http://purl.obolibrary.org/obo/UBERON_0002202 pheno_slim UBERON:0004867 biolink:AnatomicalEntity orbital cavity Anatomical cavity bounded by the orbital region of the cranium and forming the location of some or all of the eye. ZFA:0005558|FMA:84961|AAO:0000343 hp.json orbit http://purl.obolibrary.org/obo/UBERON_0004867 UBERON:0004864 biolink:AnatomicalEntity vasculature of retina A vasculature that is part of a retina [Automatically generated definition]. MESH:D012171|XAO:0004153|FMA:76552 hp.json set of blood vessels of retina|retina vasculature|set of retinal blood vessels|retina vasculature of camera-type eye|retinal blood vessels set|vasa sanguinea retinae|retinal blood vessels|retinal vasculature http://purl.obolibrary.org/obo/UBERON_0004864 pheno_slim|human_reference_atlas GO:0009615 biolink:BiologicalProcess response to virus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. hp.json response to viruses http://purl.obolibrary.org/obo/GO_0009615 UBERON:0002204 biolink:AnatomicalEntity musculoskeletal system Anatomical system that consists of the muscular and skeletal systems. MA:0002418|CALOHA:TS-1311|XAO:0000168|VHOG:0001275|VSAO:0000031|UMLS:C0026860|AAO:0010546|EV:0100139|MESH:D009141|NCIT:C12754|EMAPA:32714|Wikipedia:Musculoskeletal_system|FMA:7482|OpenCyc:Mx4rQRpVNgAKEdyHxgDggVfs8g|GAID:98|SCTID:278858007 hp.json musculo-skeletal system http://purl.obolibrary.org/obo/UBERON_0002204 uberon_slim UBERON:0004862 biolink:AnatomicalEntity left lung alveolus An alveolus that is part of a left lung [Automatically generated definition]. MA:0001777|NCIT:C49251|UMLS:C1708673|EMAPA:19182 hp.json alveolus of lobe of left lung|alveolus of left lung http://purl.obolibrary.org/obo/UBERON_0004862 GO:0009617 biolink:BiologicalProcess response to bacterium Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. hp.json response to bacteria http://purl.obolibrary.org/obo/GO_0009617 HP:0041145 biolink:PhenotypicFeature Fractured acetabular part of hip bone A partial or complete breakage of the acetabular part of hip bone. hp.json bone acetabular part of hip bone http://purl.obolibrary.org/obo/HP_0041145 UBERON:0004863 biolink:AnatomicalEntity thoracic sympathetic nerve trunk A sympathetic nerve trunk that is part of a thorax [Automatically generated definition]. EMAPA:37657|MA:0001165|FMA:6262|NCIT:C52827|UMLS:C1710393 hp.json thorax sympathetic nerve trunk|nerve trunk of sympathetic part of autonomic division of nervous system of thorax|thoracic sympathetic trunk|thorax nerve trunk of sympathetic nervous system|sympathetic nervous system nerve trunk of thorax|sympathetic nerve trunk of thorax|thoracic part of sympathetic trunk|thorax sympathetic nervous system nerve trunk|thorax nerve trunk of sympathetic part of autonomic division of nervous system|nerve trunk of sympathetic nervous system of thorax|thoracic sympathetic chain http://purl.obolibrary.org/obo/UBERON_0004863 HP:0041146 biolink:PhenotypicFeature Fractured coccyx A partial or complete breakage of the coccyx. hp.json bone coccyx http://purl.obolibrary.org/obo/HP_0041146 HP:0041143 biolink:PhenotypicFeature Fractured tibia A partial or complete breakage of the tibia. hp.json Tibial fracture|Fracture of the tibia|Broken tibia|bone tibia http://purl.obolibrary.org/obo/HP_0041143 UBERON:0002201 biolink:AnatomicalEntity vasculature of trunk A vasculature that is part of a trunk [Automatically generated definition]. FMA:74712|ZFA:0005024|TAO:0005024 hp.json torso vascular network|trunk vascular network|vascular network of trunk|vascular network of torso|vasculature of torso|trunk vasculature|torso vasculature http://purl.obolibrary.org/obo/UBERON_0002201 vertebrate_core CHEBI:33273 biolink:ChemicalSubstance polyatomic anion An anion consisting of more than one atom. hp.json polyatomic anions http://purl.obolibrary.org/obo/CHEBI_33273 3_STAR UBERON:0002200 biolink:AnatomicalEntity vasculature of head Vasculature that is part of a head [Automatically generated definition]. ZFA:0001267|TAO:0001267|FMA:74710|EFO:0003656|XAO:0004152 hp.json vasculature of adult head|head vascular network|vascular network of adult head|head vasculature|adult head vascular network|vascular network of head|cranial vasculature|adult head vasculature http://purl.obolibrary.org/obo/UBERON_0002200 vertebrate_core|efo_slim HP:0041144 biolink:PhenotypicFeature Fractured clavicle bone A partial or complete breakage of the clavicle bone. hp.json bone clavicle bone http://purl.obolibrary.org/obo/HP_0041144 UBERON:0004861 biolink:AnatomicalEntity right lung alveolus An alveolus that is part of a right lung [Automatically generated definition]. MA:0001786|UMLS:C1709959|EMAPA:35997|NCIT:C49278 hp.json alveolus of right lung http://purl.obolibrary.org/obo/UBERON_0004861 HP:0100059 biolink:PhenotypicFeature Fragmentation of the epiphyses of the 3rd toe UMLS:C4022362 hp.json Fragmentation of the end part of the 3rd toe bone http://purl.obolibrary.org/obo/HP_0100059 HP:0041158 biolink:PhenotypicFeature obsolete Fractured trunk hp.json http://purl.obolibrary.org/obo/HP_0041158 HP:0041159 biolink:PhenotypicFeature Fractured rib A partial or complete breakage of the rib. hp.json bone rib http://purl.obolibrary.org/obo/HP_0041159 UBERON:0004848 biolink:AnatomicalEntity respiratory system arterial endothelium An endothelium of artery that is part of a respiratory system [Automatically generated definition]. MA:0001801|EMAPA:37566 hp.json artery endothelium of apparatus respiratorius|respiratory system artery endothelium|arterial endothelium of respiratory system|endothelium of artery of respiratory system|apparatus respiratorius artery endothelium|apparatus respiratorius endothelium of artery|endothelium of artery of apparatus respiratorius|arterial endothelium of apparatus respiratorius|apparatus respiratorius arterial endothelium|artery endothelium of respiratory system|respiratory system endothelium of artery http://purl.obolibrary.org/obo/UBERON_0004848 human_reference_atlas HP:0100057 biolink:PhenotypicFeature Cone-shaped epiphyses of the 3rd toe UMLS:C4022364 hp.json Cone-shaped end part of the 3rd toe bone http://purl.obolibrary.org/obo/HP_0100057 HP:0100058 biolink:PhenotypicFeature Enlarged epiphyses of the 3rd toe UMLS:C4022363 hp.json Enlarged end part of the 3rd toe bone http://purl.obolibrary.org/obo/HP_0100058 UBERON:0004849 biolink:AnatomicalEntity respiratory system venous endothelium An endothelium of vein that is part of a respiratory system [Automatically generated definition]. EMAPA:37585|MA:0001811 hp.json apparatus respiratorius venous endothelium|respiratory system endothelium of vein|vein endothelium of respiratory system|endothelium of vein of apparatus respiratorius|venous endothelium of apparatus respiratorius|respiratory system vein endothelium|venous endothelium of respiratory system|endothelium of vein of respiratory system|vein endothelium of apparatus respiratorius|apparatus respiratorius vein endothelium|apparatus respiratorius endothelium of vein http://purl.obolibrary.org/obo/UBERON_0004849 human_reference_atlas HP:0100055 biolink:PhenotypicFeature Absent epiphyses of the 3rd toe UMLS:C4022366 hp.json Absent end part of the 3rd toe http://purl.obolibrary.org/obo/HP_0100055 HP:0100056 biolink:PhenotypicFeature Bracket epiphyses of the 3rd toe UMLS:C4022365 hp.json Bracket shaped end part of 3rd toe bone http://purl.obolibrary.org/obo/HP_0100056 HP:0100053 biolink:PhenotypicFeature Stippling of the epiphyses of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe. UMLS:C4022368 hp.json Speckled calcifications in the end part of the 2nd toe bone http://purl.obolibrary.org/obo/HP_0100053 GO:0010613 biolink:BiologicalProcess positive regulation of cardiac muscle hypertrophy Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. hp.json http://purl.obolibrary.org/obo/GO_0010613 HP:0100054 biolink:PhenotypicFeature Triangular epiphyses of the 2nd toe UMLS:C4022367 hp.json Triangular end part of the 2nd toe bone http://purl.obolibrary.org/obo/HP_0100054 GO:0010614 biolink:BiologicalProcess negative regulation of cardiac muscle hypertrophy Any process that decreases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. hp.json http://purl.obolibrary.org/obo/GO_0010614 GO:0010611 biolink:BiologicalProcess regulation of cardiac muscle hypertrophy Any process that modulates the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. hp.json http://purl.obolibrary.org/obo/GO_0010611 HP:0100051 biolink:PhenotypicFeature Pseudoepiphyses of the 2nd toe UMLS:C4022370 hp.json http://purl.obolibrary.org/obo/HP_0100051 HP:0100052 biolink:PhenotypicFeature Small epiphyses of the 2nd toe UMLS:C4022369 hp.json Small end part of the 2nd toe bone http://purl.obolibrary.org/obo/HP_0100052 GO:0010612 biolink:BiologicalProcess regulation of cardiac muscle adaptation Any process that modulates the rate, extent or frequency of the process in which cardiac muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. hp.json http://purl.obolibrary.org/obo/GO_0010612 HP:0100050 biolink:PhenotypicFeature Ivory epiphyses of the 2nd toe Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. UMLS:C4022371 hp.json Increased bone density of end part of the 2nd toe http://purl.obolibrary.org/obo/HP_0100050 GO:0046651 biolink:BiologicalProcess lymphocyte proliferation The expansion of a lymphocyte population by cell division. hp.json http://purl.obolibrary.org/obo/GO_0046651 GO:0010615 biolink:BiologicalProcess positive regulation of cardiac muscle adaptation Any process that increases the rate, extent or frequency of the process in which cardiac muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. hp.json http://purl.obolibrary.org/obo/GO_0010615 GO:0010616 biolink:BiologicalProcess negative regulation of cardiac muscle adaptation Any process that decreases the rate, extent or frequency of the process in which cardiac muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. hp.json http://purl.obolibrary.org/obo/GO_0010616 CHEBI:33286 biolink:ChemicalSubstance agrochemical An agrochemical is a substance that is used in agriculture or horticulture. Wikipedia:Agrochemical hp.json agrichemicals|agricultural chemicals|agrichemical|agrochemicals http://purl.obolibrary.org/obo/CHEBI_33286 3_STAR CHEBI:33287 biolink:ChemicalSubstance fertilizer A fertilizer is any substance that is added to soil or water to assist the growth of plants. hp.json fertilizers|fertiliser http://purl.obolibrary.org/obo/CHEBI_33287 3_STAR GO:0009620 biolink:BiologicalProcess response to fungus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a fungus. hp.json response to fungi http://purl.obolibrary.org/obo/GO_0009620 HP:0041152 biolink:PhenotypicFeature Fractured sternoclavicular joint A partial or complete breakage of the sternoclavicular joint. hp.json bone sternoclavicular joint http://purl.obolibrary.org/obo/HP_0041152 HP:0041153 biolink:PhenotypicFeature Fractured ankle A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot). hp.json bone ankle joint http://purl.obolibrary.org/obo/HP_0041153 CHEBI:33280 biolink:ChemicalSubstance molecular messenger hp.json chemical messenger http://purl.obolibrary.org/obo/CHEBI_33280 3_STAR HP:0041150 biolink:PhenotypicFeature Fractured cuboid bone A partial or complete breakage of the cuboid bone. hp.json bone cuboid bone http://purl.obolibrary.org/obo/HP_0041150 CHEBI:33281 biolink:ChemicalSubstance antimicrobial agent A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. PMID:22958833|PMID:22849268|PMID:22849276|PMID:12964249|PMID:22117953|PMID:22439833 hp.json microbicide|microbicides|Antibiotika|antimicrobials|antibiotics|antimicrobial agents|antibiotic|Antibiotikum|antibiotique|antimicrobial http://purl.obolibrary.org/obo/CHEBI_33281 3_STAR UBERON:0004854 biolink:AnatomicalEntity gastrointestinal system mesentery A mesentery that is part of a digestive system [Automatically generated definition]. MA:0001900|EMAPA:37068 hp.json mesentery of digestive system|mesentery of gastrointestinal system|digestive system mesentery http://purl.obolibrary.org/obo/UBERON_0004854 pheno_slim GO:0009628 biolink:BiologicalProcess response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. hp.json response to abiotic stress http://purl.obolibrary.org/obo/GO_0009628 gocheck_do_not_manually_annotate|goslim_plant|goslim_metagenomics UBERON:0004851 biolink:AnatomicalEntity aorta endothelium The thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall. MA:0000701|BTO:0000394|CALOHA:TS-0047|EMAPA:35134|NCIT:C49190|UMLS:C1706824|EFO:0002597 hp.json trunk of systemic arterial tree endothelium|endothelium of trunk of aortic tree|endothelium of adult aorta|adult aorta endothelium|trunk of aortic tree endothelium|aortic endothelium|endothelium of aorta|endothelium of trunk of systemic arterial tree http://purl.obolibrary.org/obo/UBERON_0004851 pheno_slim|efo_slim CHEBI:33282 biolink:ChemicalSubstance antibacterial agent A substance (or active part thereof) that kills or slows the growth of bacteria. hp.json bactericide|bactericides|antibacterials|antibacterial agents http://purl.obolibrary.org/obo/CHEBI_33282 3_STAR HP:0041156 biolink:PhenotypicFeature Fractured orbit of skull A partial or complete breakage of the orbit of skull. hp.json bone orbit of skull http://purl.obolibrary.org/obo/HP_0041156 UBERON:0004852 biolink:AnatomicalEntity cardiovascular system endothelium An endothelium that is part of the cardiovascular system. EMAPA:35201|TAO:0002171|XAO:0000356|GAID:519|BTO:0001853|UMLS:C0014261|MA:0000717|VHOG:0001217|MESH:D004730|ZFA:0001639|NCIT:C13053 hp.json vascular endothelia|endothelia http://purl.obolibrary.org/obo/UBERON_0004852 vertebrate_core HP:0041157 biolink:PhenotypicFeature Fractured larynx A partial or complete breakage of the larynx. hp.json bone larynx http://purl.obolibrary.org/obo/HP_0041157 HP:0041154 biolink:PhenotypicFeature Fractured elbow joint A partial or complete breakage of the elbow joint. hp.json bone elbow joint http://purl.obolibrary.org/obo/HP_0041154 CHEBI:33284 biolink:ChemicalSubstance nutrient A nutrient is a food component that an organism uses to survive and grow. hp.json nutrients http://purl.obolibrary.org/obo/CHEBI_33284 3_STAR CHEBI:33285 biolink:ChemicalSubstance heteroorganic entity A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms. hp.json heteroorganic entities|organoelement compounds http://purl.obolibrary.org/obo/CHEBI_33285 3_STAR UBERON:0004850 biolink:AnatomicalEntity lymph node endothelium An endothelium that is part of a lymph node [Automatically generated definition]. MA:0000741|EMAPA:35526 hp.json endothelium of lymph node http://purl.obolibrary.org/obo/UBERON_0004850 HP:0041155 biolink:PhenotypicFeature Fractured mandible A partial or complete breakage of the mandible. hp.json bone mandible http://purl.obolibrary.org/obo/HP_0041155 GO:0046660 biolink:BiologicalProcess female sex differentiation The establishment of the sex of a female organism by physical differentiation. hp.json http://purl.obolibrary.org/obo/GO_0046660 HP:0100068 biolink:PhenotypicFeature Cone-shaped epiphyses of the 4th toe UMLS:C4022353 hp.json Cone-shaped end part of the 4th toe bone http://purl.obolibrary.org/obo/HP_0100068 HP:0100069 biolink:PhenotypicFeature Enlarged epiphyses of the 4th toe UMLS:C4022352 hp.json Enlarged end part of the 4th toe bone http://purl.obolibrary.org/obo/HP_0100069 UBERON:0004835 biolink:AnatomicalEntity epididymis smooth muscle A portion of smooth muscle tissue that is part of a epididymis [Automatically generated definition]. MA:0001736|EMAPA:30747 hp.json epididymis involuntary muscle|epididymis non-striated muscle|epididymis smooth muscle tissue|non-striated muscle of epididymis|involuntary muscle of epididymis|smooth muscle of epididymis|smooth muscle tissue of epididymis http://purl.obolibrary.org/obo/UBERON_0004835 HP:0100066 biolink:PhenotypicFeature Absent epiphyses of the 4th toe UMLS:C4022355 hp.json Absent end part of the 4th toe bone http://purl.obolibrary.org/obo/HP_0100066 HP:0100067 biolink:PhenotypicFeature Bracket epiphyses of the 4th toe UMLS:C4022354 hp.json Bracket shaped end part of 4th toe bone http://purl.obolibrary.org/obo/HP_0100067 HP:0100064 biolink:PhenotypicFeature Stippling of the epiphyses of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe. UMLS:C4022357 hp.json Speckled calcifications in the end part of the 3rd toe bone http://purl.obolibrary.org/obo/HP_0100064 GO:0046668 biolink:BiologicalProcess regulation of retinal cell programmed cell death Any process that modulates the frequency, rate or extent of programmed cell death that occurs in the retina. hp.json regulation of retinal programmed cell death http://purl.obolibrary.org/obo/GO_0046668 GO:0046667 biolink:BiologicalProcess compound eye retinal cell programmed cell death Programmed cell death that occurs in the retina to remove excess cells between ommatidia, thus resulting in a hexagonal lattice, precise with respect to cell number and position surrounding each ommatidium. hp.json http://purl.obolibrary.org/obo/GO_0046667 HP:0100065 biolink:PhenotypicFeature Triangular epiphyses of the 3rd toe UMLS:C4022356 hp.json Triangular end part of the 3rd toe bone http://purl.obolibrary.org/obo/HP_0100065 HP:0100062 biolink:PhenotypicFeature Pseudoepiphyses of the 3rd toe UMLS:C4022359 hp.json http://purl.obolibrary.org/obo/HP_0100062 GO:0046666 biolink:BiologicalProcess retinal cell programmed cell death Programmed cell death that occurs in the developing retina. hp.json programmed cell death, retinal cells|retinal programmed cell death|programmed cell death, retina cells|retina programmed cell death|retina cell programmed cell death http://purl.obolibrary.org/obo/GO_0046666 HP:0100063 biolink:PhenotypicFeature Small epiphyses of the 3rd toe UMLS:C4022358 hp.json Small end part of the 3rd toe bone http://purl.obolibrary.org/obo/HP_0100063 HP:0100060 biolink:PhenotypicFeature Irregular epiphyses of the 3rd toe UMLS:C4022361 hp.json Irregular end part of the 3rd toe bone http://purl.obolibrary.org/obo/HP_0100060 HP:0100061 biolink:PhenotypicFeature Ivory epiphyses of the 3rd toe Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. UMLS:C4022360 hp.json Increased bone density of end part of the 3rd toe bone http://purl.obolibrary.org/obo/HP_0100061 GO:0046661 biolink:BiologicalProcess male sex differentiation The establishment of the sex of a male organism by physical differentiation. hp.json http://purl.obolibrary.org/obo/GO_0046661 CHEBI:33253 biolink:ChemicalSubstance nucleon Heavy nuclear particle: proton or neutron. hp.json nucleon|nucleon|Nukleonen|nucleons|Nukleon http://purl.obolibrary.org/obo/CHEBI_33253 3_STAR CHEBI:33256 biolink:ChemicalSubstance primary amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. hp.json primary amide|primary amides http://purl.obolibrary.org/obo/CHEBI_33256 3_STAR CHEBI:33259 biolink:ChemicalSubstance elemental molecular entity A molecular entity all atoms of which have the same atomic number. hp.json homoatomic molecular entities|homoatomic molecular entity|homoatomic entity http://purl.obolibrary.org/obo/CHEBI_33259 3_STAR GO:0071626 biolink:BiologicalProcess mastication The process of biting and mashing food with the teeth prior to swallowing. hp.json chewing http://purl.obolibrary.org/obo/GO_0071626 GO:0046669 biolink:BiologicalProcess regulation of compound eye retinal cell programmed cell death Any process that modulates the frequency, rate or extent of programmed cell death that occurs in the compound eye retina. hp.json regulation of retinal cell programmed cell death http://purl.obolibrary.org/obo/GO_0046669 GO:0071625 biolink:NamedThing vocalization behavior hp.json http://purl.obolibrary.org/obo/GO_0071625 GO:0071624 biolink:BiologicalProcess positive regulation of granulocyte chemotaxis Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071624 HP:0041163 biolink:PhenotypicFeature Fractured manual digit A partial or complete breakage of the manual digit. hp.json bone manual digit http://purl.obolibrary.org/obo/HP_0041163 HP:0041164 biolink:PhenotypicFeature Fractured talus A partial or complete breakage of the talus. hp.json bone talus http://purl.obolibrary.org/obo/HP_0041164 GO:0071623 biolink:BiologicalProcess negative regulation of granulocyte chemotaxis Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071623 GO:0071622 biolink:BiologicalProcess regulation of granulocyte chemotaxis Any process that modulates the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071622 HP:0041161 biolink:PhenotypicFeature obsolete Fractured pelvic region of trunk hp.json http://purl.obolibrary.org/obo/HP_0041161 CHEBI:59888 biolink:ChemicalSubstance gamma-aminobutyric acid zwitterion Zwitterionic form of gamma-aminobutyric acid having an anionic carboxy group and a protonated amino group. Gmelin:1041559 hp.json 4-ammoniobutanoate|4-azaniumylbutanoate|4-aminobutanoate http://purl.obolibrary.org/obo/CHEBI_59888 3_STAR HP:0041162 biolink:PhenotypicFeature Fractured foot bone A partial or complete breakage of the foot bone, such as the metatarsal or toe. hp.json Fractured pes|Metatarsal fracture|Broken foot|bone pes http://purl.obolibrary.org/obo/HP_0041162 GO:0071621 biolink:BiologicalProcess granulocyte chemotaxis The movement of a granulocyte in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071621 HP:0041167 biolink:PhenotypicFeature Fractured cervical vertebra A partial or complete breakage of the cervical vertebra. hp.json bone cervical vertebra http://purl.obolibrary.org/obo/HP_0041167 CHEBI:33250 biolink:ChemicalSubstance atom A chemical entity constituting the smallest component of an element having the chemical properties of the element. hp.json elements|atome|atom|atoms|atomo|atomus|element http://purl.obolibrary.org/obo/CHEBI_33250 3_STAR HP:0041168 biolink:PhenotypicFeature Fractured lumbar vertebra A partial or complete breakage of the lumbar vertebra. hp.json bone lumbar vertebra http://purl.obolibrary.org/obo/HP_0041168 HP:0041165 biolink:PhenotypicFeature Fractured maxilla A partial or complete breakage of the maxilla. hp.json bone maxilla http://purl.obolibrary.org/obo/HP_0041165 CHEBI:33252 biolink:ChemicalSubstance atomic nucleus A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. hp.json Atomkern|Kern|nucleus|nuclei|nucleo atomico|noyau|noyau atomique|nucleo|nucleus atomi http://purl.obolibrary.org/obo/CHEBI_33252 3_STAR HP:0041166 biolink:PhenotypicFeature Fractured vertebra A partial or complete breakage of the vertebra. hp.json bone vertebra http://purl.obolibrary.org/obo/HP_0041166 GO:0046671 biolink:BiologicalProcess negative regulation of retinal cell programmed cell death Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death that occurs in the retina. hp.json down regulation of retinal programmed cell death|downregulation of retinal programmed cell death|inhibition of retinal programmed cell death|negative regulation of retinal programmed cell death|down-regulation of retinal programmed cell death http://purl.obolibrary.org/obo/GO_0046671 GO:0046670 biolink:BiologicalProcess positive regulation of retinal cell programmed cell death Any process that activates or increases the frequency, rate or extent of programmed cell death that occurs in the retina. hp.json positive regulation of retinal programmed cell death|up-regulation of retinal programmed cell death|up regulation of retinal programmed cell death|activation of retinal programmed cell death|stimulation of retinal programmed cell death|upregulation of retinal programmed cell death http://purl.obolibrary.org/obo/GO_0046670 UBERON:0004829 biolink:AnatomicalEntity urethra skeletal muscle tissue A portion of skeletal muscle tissue that is part of a urethra [Automatically generated definition]. EMAPA:37788|MA:0001690 hp.json skeletal muscle of urethra|urethra skeletal muscle|skeletal muscle tissue of urethra|urethra skeletal muscle tissue|urethral skeletal muscle http://purl.obolibrary.org/obo/UBERON_0004829 HP:0100079 biolink:PhenotypicFeature Cone-shaped epiphyses of the 5th toe UMLS:C4022342 hp.json Cone-shaped end part of the pinky toe bone|Cone-shaped end part of the pinkie toe bone|Cone-shaped end part of the little toe bone http://purl.obolibrary.org/obo/HP_0100079 UBERON:0004827 biolink:AnatomicalEntity thyroid gland medulla A medulla that is part of a thyroid [Automatically generated definition]. MA:0000132|EMAPA:37768 hp.json thyroid follicle medulla|thyroid gland follicle medulla|thyroid medulla|medulla of thyroid follicle|medulla of thyroid gland follicle|medulla of thyroid gland|medulla of thyroid http://purl.obolibrary.org/obo/UBERON_0004827 HP:0100077 biolink:PhenotypicFeature Absent epiphyses of the 5th toe UMLS:C4022344 hp.json Absent end part of the pinkie toe bone|Absent end part of the pinky toe bone|Absent end part of the little toe bone http://purl.obolibrary.org/obo/HP_0100077 HP:0100078 biolink:PhenotypicFeature Bracket epiphyses of the 5th toe UMLS:C4022343 hp.json Bracket shaped end part of pinkie toe bone|Bracket shaped end part of little toe bone|Bracket shaped end part of pinky toe bone http://purl.obolibrary.org/obo/HP_0100078 HP:0100075 biolink:PhenotypicFeature Stippling of the epiphyses of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe. UMLS:C4022346 hp.json Speckled calcifications in the end part of the 4th toe bone http://purl.obolibrary.org/obo/HP_0100075 HP:0100076 biolink:PhenotypicFeature Triangular epiphyses of the 4th toe UMLS:C4022345 hp.json Triangular end part of the 4th toe bone http://purl.obolibrary.org/obo/HP_0100076 HP:0100073 biolink:PhenotypicFeature Pseudoepiphyses of the 4th toe UMLS:C4022348 hp.json http://purl.obolibrary.org/obo/HP_0100073 HP:0100074 biolink:PhenotypicFeature Small epiphyses of the 4th toe UMLS:C4022347 hp.json Small end part of the 4th toe bone http://purl.obolibrary.org/obo/HP_0100074 GO:0046676 biolink:NamedThing negative regulation of insulin secretion hp.json http://purl.obolibrary.org/obo/GO_0046676 HP:0100071 biolink:PhenotypicFeature Irregular epiphyses of the 4th toe UMLS:C4022350 hp.json Irregular end part of the 4th toe bone http://purl.obolibrary.org/obo/HP_0100071 HP:0100072 biolink:PhenotypicFeature Ivory epiphyses of the 4th toe Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. UMLS:C4022349 hp.json Increased bone density of end part of the 4th toe bone http://purl.obolibrary.org/obo/HP_0100072 CHEBI:47891 biolink:ChemicalSubstance steroid acid Any steroid substituted by at least one carboxy group. hp.json steroid acids http://purl.obolibrary.org/obo/CHEBI_47891 3_STAR GO:0046673 biolink:BiologicalProcess negative regulation of compound eye retinal cell programmed cell death Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death that occurs in the compound eye retina. hp.json inhibition of retinal cell programmed cell death|negative regulation of retina cell programmed cell death|downregulation of retinal cell programmed cell death|down regulation of retinal cell programmed cell death|negative regulation of retinal cell programmed cell death|down-regulation of retinal cell programmed cell death http://purl.obolibrary.org/obo/GO_0046673 GO:0046672 biolink:BiologicalProcess positive regulation of compound eye retinal cell programmed cell death Any process that activates or increases the frequency, rate or extent of programmed cell death that occurs in the compound eye retina. hp.json positive regulation of retinal cell programmed cell death|up regulation of retinal cell programmed cell death|up-regulation of retinal cell programmed cell death|stimulation of retinal cell programmed cell death|activation of retinal cell programmed cell death|upregulation of retinal cell programmed cell death http://purl.obolibrary.org/obo/GO_0046672 HP:0100070 biolink:PhenotypicFeature Fragmentation of the epiphyses of the 4th toe UMLS:C4022351 hp.json Fragmentation of the end part of the 4th toe bone http://purl.obolibrary.org/obo/HP_0100070 CHEBI:59871 biolink:ChemicalSubstance D-alpha-amino acid zwitterion Zwitterionic form of a D-alpha-amino acid having an anionic carboxy group and a protonated amino group. hp.json a D-alpha-amino acid|D-alpha-amino acid zwitterions http://purl.obolibrary.org/obo/CHEBI_59871 3_STAR UBERON:0004833 biolink:AnatomicalEntity lip skeletal muscle A portion of skeletal muscle tissue that is part of a lip [Automatically generated definition]. EMAPA:37642|MA:0001578 hp.json skeletal muscle of lip|skeletal muscle tissue of lip|lip skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0004833 HP:0041174 biolink:PhenotypicFeature Fractured distal phalanx of manus A partial or complete breakage of the distal phalanx of manus. hp.json bone distal phalanx of manus http://purl.obolibrary.org/obo/HP_0041174 UBERON:0004834 biolink:AnatomicalEntity hepatic duct smooth muscle Smooth muscle tissue in all or part of a hepatic duct. EMAPA:37598|MA:0001640 hp.json http://purl.obolibrary.org/obo/UBERON_0004834 HP:0041175 biolink:PhenotypicFeature Fractured middle phalanx of pes A partial or complete breakage of the middle phalanx of pes. hp.json bone middle phalanx of pes http://purl.obolibrary.org/obo/HP_0041175 HP:0041172 biolink:PhenotypicFeature Fractured fused sacrum A partial or complete breakage of the fused sacrum. hp.json bone fused sacrum http://purl.obolibrary.org/obo/HP_0041172 UBERON:0004831 biolink:AnatomicalEntity esophagus skeletal muscle A portion of skeletal muscle tissue that is part of a esophagus [Automatically generated definition]. EMAPA:36523|MA:0001572 hp.json esophagus skeletal muscle tissue|skeletal muscle of esophagus http://purl.obolibrary.org/obo/UBERON_0004831 UBERON:0004832 biolink:AnatomicalEntity anal region skeletal muscle A portion of skeletal muscle tissue that is part of an anal region [Automatically generated definition]. EMAPA:37393|MA:0001530 hp.json skeletal muscle tissue of anal region|anal region skeletal muscle tissue|skeletal muscle of anal triangle|skeletal muscle of anal part of perineum|anal part of perineum skeletal muscle tissue|anal triangle skeletal muscle tissue|skeletal muscle of anal region|skeletal muscle tissue of anal triangle|skeletal muscle tissue of anal part of perineum|anal triangle skeletal muscle|anal part of perineum skeletal muscle http://purl.obolibrary.org/obo/UBERON_0004832 GO:0009605 biolink:BiologicalProcess response to external stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. hp.json response to environmental stimulus http://purl.obolibrary.org/obo/GO_0009605 gocheck_do_not_manually_annotate|goslim_plant|goslim_drosophila HP:0041173 biolink:PhenotypicFeature Fractured metacarpophalangeal joint A partial or complete breakage of the metacarpophalangeal joint. hp.json bone metacarpophalangeal joint http://purl.obolibrary.org/obo/HP_0041173 CHEBI:59876 biolink:ChemicalSubstance N-acyl-D-alpha-amino acid anion The conjugate base of an N-acyl-D-alpha-amino acid arising from deprotonation of the C-1 carboxy group. hp.json N-acyl-D-alpha-amino acid(1-)|an N-acyl-D-amino acid http://purl.obolibrary.org/obo/CHEBI_59876 3_STAR HP:0041178 biolink:PhenotypicFeature Fractured distal phalanx of manual digit 4 A partial or complete breakage of the distal phalanx of manual digit 4. hp.json bone distal phalanx of manual digit 4 http://purl.obolibrary.org/obo/HP_0041178 UBERON:0004830 biolink:AnatomicalEntity respiratory system skeletal muscle A portion of skeletal muscle tissue that is part of a respiratory system [Automatically generated definition]. EMAPA:37583|MA:0001829 hp.json skeletal muscle of respiratory system|skeletal muscle tissue of apparatus respiratorius|skeletal muscle tissue of respiratory system|skeletal muscle of apparatus respiratorius|respiratory system skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0004830 CHEBI:33261 biolink:ChemicalSubstance organosulfur compound An organosulfur compound is a compound containing at least one carbon-sulfur bond. Wikipedia:Organosulfur_compounds hp.json organosulfur compounds|organosulfur compound http://purl.obolibrary.org/obo/CHEBI_33261 3_STAR GO:0009607 biolink:BiologicalProcess response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. hp.json response to biotic stress http://purl.obolibrary.org/obo/GO_0009607 gocheck_do_not_manually_annotate|goslim_plant|goslim_metagenomics HP:0041179 biolink:PhenotypicFeature Fractured distal phalanx of manual digit 5 A partial or complete breakage of the distal phalanx of manual digit 5. hp.json bone distal phalanx of manual digit 5 http://purl.obolibrary.org/obo/HP_0041179 CHEBI:59874 biolink:ChemicalSubstance N-acyl-L-alpha-amino acid anion A carboxylic acid anion that is the conjugate base of an N-acyl-L-alpha-amino acid arising from deprotonation of the C-1 carboxy group. hp.json an N-acyl-L-amino acid|N-acyl-L-alpha-amino acid(1-) http://purl.obolibrary.org/obo/CHEBI_59874 3_STAR HP:0041176 biolink:PhenotypicFeature Fractured distal phalanx of manual digit 2 A partial or complete breakage of the distal phalanx of manual digit 2. hp.json bone distal phalanx of manual digit 2 http://purl.obolibrary.org/obo/HP_0041176 CHEBI:33262 biolink:ChemicalSubstance elemental oxygen hp.json http://purl.obolibrary.org/obo/CHEBI_33262 3_STAR CHEBI:33263 biolink:ChemicalSubstance diatomic oxygen hp.json http://purl.obolibrary.org/obo/CHEBI_33263 3_STAR HP:0041177 biolink:PhenotypicFeature Fractured distal phalanx of manual digit 3 A partial or complete breakage of the distal phalanx of manual digit 3. hp.json bone distal phalanx of manual digit 3 http://purl.obolibrary.org/obo/HP_0041177 HP:0031782 biolink:PhenotypicFeature Microtropia without identity A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test. hp.json http://purl.obolibrary.org/obo/HP_0031782 HP:0031783 biolink:PhenotypicFeature Absent coronary sinus A developmental defect in which the coronary sinus fails to form. Fyler:2841 hp.json http://purl.obolibrary.org/obo/HP_0031783 HP:0031784 biolink:PhenotypicFeature Abnormal ascending aorta morphology Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise. Fyler:1431 hp.json http://purl.obolibrary.org/obo/HP_0031784 HP:0031785 biolink:PhenotypicFeature Abnormal eyelid movement An abnormality in voluntary or involuntary eyelid movements or their control. hp.json http://purl.obolibrary.org/obo/HP_0031785 GO:0007077 biolink:BiologicalProcess mitotic nuclear membrane disassembly The mitotic cell cycle process in which the controlled partial or complete breakdown of the nuclear membranes during occurs during mitosis. hp.json mitotic nuclear envelope catabolism|mitotic nuclear envelope breakdown|mitotic nuclear envelope degradation|mitotic nuclear envelope disassembly|NEB|nuclear envelope breakdown|local NEB http://purl.obolibrary.org/obo/GO_0007077 HP:0031780 biolink:PhenotypicFeature Eosinophilic ascites A type of ascites in which there are large numbers of eosinophils in the ascitis fluid. hp.json http://purl.obolibrary.org/obo/HP_0031780 GO:0007076 biolink:BiologicalProcess mitotic chromosome condensation The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells. hp.json http://purl.obolibrary.org/obo/GO_0007076 HP:0031781 biolink:PhenotypicFeature Microtropia with identity A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC. hp.json http://purl.obolibrary.org/obo/HP_0031781 HP:0004157 biolink:PhenotypicFeature obsolete Accessory middle-finger phalanges hp.json http://purl.obolibrary.org/obo/HP_0004157 UBERON:8400021 biolink:AnatomicalEntity liver serosa Hepatic serous coat; peritoneal covering of the liver, enclosing almost all except for a triangular area on its posterior surface (the 'bare area of the liver') and a smaller area where the liver and gallbladder are in direct contact. hp.json tunica serosa hepatis|serosa of liver http://purl.obolibrary.org/obo/UBERON_8400021 HP:0031786 biolink:PhenotypicFeature Cogan lid twitch Transient eyelid retraction during refixation from down to straight ahead. hp.json Cogan eyelid twitch|Eyelid twitch|Lid twitch http://purl.obolibrary.org/obo/HP_0031786 HP:0031787 biolink:PhenotypicFeature Oblique astigmatism Astigmatism in which the refractive power of the vertical meridian is the greatest. hp.json http://purl.obolibrary.org/obo/HP_0031787 UBERON:8400023 biolink:AnatomicalEntity liver subserosa Subserosal tissue of liver. A zone of areolar connective tissue lying beneath the serous coat of the liver and distinguished with difficulty from the fibrous capsule of Glisson. hp.json subserosal tissue of liver|tela subserosa hepatis|subserous layer of liver|tela subserosa (hepar)|hepatic subserosa http://purl.obolibrary.org/obo/UBERON_8400023 HP:0031788 biolink:PhenotypicFeature With the rule astigmatism Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest). hp.json http://purl.obolibrary.org/obo/HP_0031788 HP:0031789 biolink:PhenotypicFeature Against the rule astigmatism Astigmatism with more plus power on the horizontal meridian. hp.json http://purl.obolibrary.org/obo/HP_0031789 HP:0004150 biolink:PhenotypicFeature Abnormal 3rd finger morphology An anomaly of the third finger. UMLS:C4021682 hp.json Abnormality of the middle finger|Abnormality of the 3rd finger http://purl.obolibrary.org/obo/HP_0004150 HP:0004153 biolink:PhenotypicFeature obsolete Overgrowth of middle finger hp.json http://purl.obolibrary.org/obo/HP_0004153 HP:0041116 biolink:PhenotypicFeature Fractured left clavicle A partial or complete breakage of the left clavicle. hp.json bone left clavicle http://purl.obolibrary.org/obo/HP_0041116 HP:0041117 biolink:PhenotypicFeature Fractured lower limb segment A partial or complete breakage of the lower limb segment. hp.json bone lower limb segment http://purl.obolibrary.org/obo/HP_0041117 HP:0041114 biolink:PhenotypicFeature Fractured metaphysis of femur A partial or complete breakage of the metaphysis of femur. hp.json bone metaphysis of femur http://purl.obolibrary.org/obo/HP_0041114 NBO:0000229 biolink:NamedThing vestibular behavior phenotype "Observable characteristic of behavior related to the awareness of body balance and movement." [NBO:GVG] hp.json pathological vestibular behaviour http://purl.obolibrary.org/obo/NBO_0000229 HP:0041115 biolink:PhenotypicFeature Fractured right clavicle A partial or complete breakage of the right clavicle. hp.json bone right clavicle http://purl.obolibrary.org/obo/HP_0041115 HP:0041118 biolink:PhenotypicFeature Fractured upper limb segment A partial or complete breakage of the upper limb segment. hp.json bone upper limb segment http://purl.obolibrary.org/obo/HP_0041118 HP:0041119 biolink:PhenotypicFeature Fractured metacarpus skeleton A partial or complete breakage of the metacarpus skeleton. hp.json bone metacarpus skeleton http://purl.obolibrary.org/obo/HP_0041119 HP:0031793 biolink:PhenotypicFeature Increased serum leptin An increased concentration of leptin in the blood. hp.json Elevated circulating leptin level http://purl.obolibrary.org/obo/HP_0031793 HP:0031794 biolink:PhenotypicFeature Decreased circulating glycerol level A decrease below the normal concentration of glycerol in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031794 HP:0031795 biolink:PhenotypicFeature Abnormal circulating glycerol level Any deviation from the normal concentration of glycerol in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031795 HP:0031796 biolink:PhenotypicFeature Recurrent Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present. hp.json Intermittent http://purl.obolibrary.org/obo/HP_0031796 GO:0007088 biolink:BiologicalProcess regulation of mitotic nuclear division Any process that modulates the frequency, rate or extent of mitosis. hp.json regulation of mitosis http://purl.obolibrary.org/obo/GO_0007088 HP:0031790 biolink:PhenotypicFeature Mixed astigmatism A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). hp.json http://purl.obolibrary.org/obo/HP_0031790 HP:0031791 biolink:PhenotypicFeature Lenticular astigmatism A type of astigmatism related to an irregular shape of the lens. hp.json http://purl.obolibrary.org/obo/HP_0031791 HP:0031792 biolink:PhenotypicFeature Irregular astigmatism A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision. hp.json http://purl.obolibrary.org/obo/HP_0031792 HP:0004168 biolink:PhenotypicFeature obsolete Radially pointed proximal middle-finger phalanx hp.json http://purl.obolibrary.org/obo/HP_0004168 HP:0031797 biolink:PhenotypicFeature Clinical course The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. hp.json Natural history of disease http://purl.obolibrary.org/obo/HP_0031797 PATO:0000890 biolink:NamedThing male sterile A male fertility quality inhering in a male by virtue of the bearer's being incapable of initiating, sustaining, or supporting reproduction. hp.json male infertile http://purl.obolibrary.org/obo/PATO_0000890 disposition_slim|value_slim HP:0031798 biolink:PhenotypicFeature Elevated circulating apolipoprotein B concentration Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. hp.json Elevated apolipoprotein B level|Elevated ApoB level http://purl.obolibrary.org/obo/HP_0031798 HP:0031799 biolink:PhenotypicFeature Decreased circulating apolipoprotein AI concentration Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease. hp.json Decreased apo-AI level|Decreased apolipoprotein AI level|Decreased apoA-I level http://purl.obolibrary.org/obo/HP_0031799 PATO:0000892 biolink:NamedThing female sterile A female fertility quality inhering in a female by virtue of the bearer's being incapable of initiating, sustaining, or supporting reproduction. hp.json female infertile http://purl.obolibrary.org/obo/PATO_0000892 disposition_slim|value_slim HP:0004162 biolink:PhenotypicFeature obsolete Radially pointed middle finger phalanges hp.json http://purl.obolibrary.org/obo/HP_0004162 NBO:0000233 biolink:NamedThing motivation behavior "Behavior related to the tendency of an organism to maintain internal equilibrium." [NBO:GVG] hp.json behavioral homeostasis|perception of need|maintenance behaviour http://purl.obolibrary.org/obo/NBO_0000233 HP:0004161 biolink:PhenotypicFeature obsolete Periosteal new bone of middle finger phalanges hp.json http://purl.obolibrary.org/obo/HP_0004161 GO:0032024 biolink:NamedThing positive regulation of insulin secretion hp.json http://purl.obolibrary.org/obo/GO_0032024 GO:0007059 biolink:BiologicalProcess chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. Wikipedia:Chromosome_segregation hp.json chromosome transmission|chromosome division http://purl.obolibrary.org/obo/GO_0007059 prokaryote_subset|goslim_pir|goslim_drosophila|goslim_chembl|goslim_generic|goslim_yeast HP:0004138 biolink:PhenotypicFeature obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger hp.json http://purl.obolibrary.org/obo/HP_0004138 HP:0006799 biolink:PhenotypicFeature Basal ganglia cysts UMLS:C1837251 hp.json Cystic lesions in the basal ganglia http://purl.obolibrary.org/obo/HP_0006799 HP:0004139 biolink:PhenotypicFeature obsolete Flared metaphysis of middle phalanx of index finger hp.json http://purl.obolibrary.org/obo/HP_0004139 HP:0006794 biolink:PhenotypicFeature Loss of ability to walk in first decade UMLS:C1846133 hp.json Loss of ability to walk in first decade http://purl.obolibrary.org/obo/HP_0006794 HP:0006790 biolink:PhenotypicFeature Cerebral cortex with spongiform changes UMLS:C1857934 hp.json http://purl.obolibrary.org/obo/HP_0006790 HP:0004132 biolink:PhenotypicFeature Dimple on nasal tip An abnormal indentation of the skin in the region of the nasal tip. UMLS:C1863349 hp.json Dimpled tip of nose|Dimple on nasal tip http://purl.obolibrary.org/obo/HP_0004132 HP:0041121 biolink:PhenotypicFeature Fractured epiphysis of fifth metacarpal bone A partial or complete breakage of the epiphysis of fifth metacarpal bone. hp.json bone epiphysis of fifth metacarpal bone http://purl.obolibrary.org/obo/HP_0041121 CHEBI:60895 biolink:ChemicalSubstance D-alpha-amino acid anion Any alpha-amino acid anion in which the parent amino acid has D-configuration. hp.json D-alpha-amino acid anions|D-alpha-amino carboxylate http://purl.obolibrary.org/obo/CHEBI_60895 3_STAR HP:0004144 biolink:PhenotypicFeature obsolete Duplication of terminal index finger phalanx hp.json http://purl.obolibrary.org/obo/HP_0004144 HP:0004143 biolink:PhenotypicFeature obsolete Radially deviated terminal index finger phalanx hp.json http://purl.obolibrary.org/obo/HP_0004143 NBO:0000259 biolink:NamedThing psychotic disorder hp.json http://purl.obolibrary.org/obo/NBO_0000259 NBO:0000258 biolink:NamedThing bipolar disorder "A mood disorder formerly characterised by alternating periods of mania and depression (and in some cases rapid cycling, mixed states, and psychotic symptoms)." [wikipedia:Bipolar_disorder] hp.json bipolar affective disorder|BD|manic depression http://purl.obolibrary.org/obo/NBO_0000258 HP:0031740 biolink:PhenotypicFeature Abnormal horizontal rectus muscle physiology A functional anomaly of the medial rectus muscle or lateral rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0031740 GO:0007036 biolink:BiologicalProcess vacuolar calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings. hp.json http://purl.obolibrary.org/obo/GO_0007036 HP:0031741 biolink:PhenotypicFeature Inferior oblique muscle underaction Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. hp.json http://purl.obolibrary.org/obo/HP_0031741 GO:0007034 biolink:BiologicalProcess vacuolar transport The directed movement of substances into, out of or within a vacuole. hp.json http://purl.obolibrary.org/obo/GO_0007034 goslim_chembl GO:0007033 biolink:BiologicalProcess vacuole organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vacuole. hp.json vacuolar assembly|vacuole biogenesis|vacuole organization and biogenesis|vacuole organisation http://purl.obolibrary.org/obo/GO_0007033 goslim_pir|goslim_drosophila|goslim_yeast GO:0007041 biolink:BiologicalProcess lysosomal transport The directed movement of substances into, out of or within a lysosome. hp.json http://purl.obolibrary.org/obo/GO_0007041 HP:0031746 biolink:PhenotypicFeature Superior rectus muscle restriction Mechanical limitation of the range of movement of the superior rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0031746 HP:0031747 biolink:PhenotypicFeature Superior rectus muscle underaction Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. hp.json http://purl.obolibrary.org/obo/HP_0031747 GO:0007040 biolink:BiologicalProcess lysosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. hp.json lysosome organisation|lysosome organization and biogenesis http://purl.obolibrary.org/obo/GO_0007040 goslim_generic HP:0031748 biolink:PhenotypicFeature Abnormal vertical rectus muscle physiology A functional anomaly of the superior or inferior rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0031748 HP:0031749 biolink:PhenotypicFeature Abnormal lateral rectus muscle physiology A functional anomaly of the lateral rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0031749 HP:0031742 biolink:PhenotypicFeature Inferior rectus muscle underaction Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. hp.json http://purl.obolibrary.org/obo/HP_0031742 HP:0031743 biolink:PhenotypicFeature Inferior rectus muscle overaction Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. hp.json http://purl.obolibrary.org/obo/HP_0031743 GO:0034654 biolink:BiologicalProcess nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. hp.json nucleobase, nucleoside, nucleotide and nucleic acid formation|nucleobase, nucleoside, nucleotide and nucleic acid synthesis|nucleobase, nucleoside, nucleotide and nucleic acid anabolism|nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis http://purl.obolibrary.org/obo/GO_0034654 HP:0031744 biolink:PhenotypicFeature Superior rectus muscle weakness Decreased strength of the superior rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0031744 CHEBI:166902 biolink:ChemicalSubstance noradrenaline(1+) hp.json noradrenaline http://purl.obolibrary.org/obo/CHEBI_166902 2_STAR HP:0031745 biolink:PhenotypicFeature Superior rectus muscle overaction Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. hp.json http://purl.obolibrary.org/obo/HP_0031745 HP:0004196 biolink:PhenotypicFeature obsolete Short phalanges of the ring finger hp.json http://purl.obolibrary.org/obo/HP_0004196 NBO:0000266 biolink:NamedThing cognitive behavior phenotype "Observable characteristic of behaviour related to cognitive processes." [NBO:RH] hp.json http://purl.obolibrary.org/obo/NBO_0000266 HP:0004195 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the 4th finger Osteolytic defects of the phalanges of the 4th (ring) finger. UMLS:C4025409|UMLS:C4020832 hp.json Lytic defects of the phalanges of the ring finger http://purl.obolibrary.org/obo/HP_0004195 NBO:0000265 biolink:NamedThing personality disorder hp.json http://purl.obolibrary.org/obo/NBO_0000265 HP:0004194 biolink:PhenotypicFeature obsolete Hypoplastic phalanges of the ring finger hp.json http://purl.obolibrary.org/obo/HP_0004194 HP:0004193 biolink:PhenotypicFeature obsolete Expanded phalanges of the ring finger hp.json http://purl.obolibrary.org/obo/HP_0004193 HP:0004198 biolink:PhenotypicFeature obsolete Wide/broad phalanges of the ring finger hp.json http://purl.obolibrary.org/obo/HP_0004198 HP:0004197 biolink:PhenotypicFeature Symphalangism of the 4th finger Fusion of two or more bones of the 4th finger. UMLS:C4021679 hp.json Fused ring finger bones|Symphalangism of the ring finger http://purl.obolibrary.org/obo/HP_0004197 NBO:0000268 biolink:NamedThing dementia hp.json http://purl.obolibrary.org/obo/NBO_0000268 GO:0007049 biolink:BiologicalProcess cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. Wikipedia:Cell_cycle hp.json cell-division cycle http://purl.obolibrary.org/obo/GO_0007049 goslim_candida|goslim_agr|gocheck_do_not_manually_annotate|goslim_pir|goslim_plant|goslim_flybase_ribbon|goslim_chembl|goslim_aspergillus HP:0031750 biolink:PhenotypicFeature Lateral rectus muscle weakness Decreased strength (ability to move) of the lateral rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0031750 HP:0031751 biolink:PhenotypicFeature Lateral rectus muscle underaction Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. hp.json http://purl.obolibrary.org/obo/HP_0031751 HP:0031752 biolink:PhenotypicFeature Lateral rectus muscle overaction Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. hp.json http://purl.obolibrary.org/obo/HP_0031752 GO:0007043 biolink:BiologicalProcess cell-cell junction assembly The aggregation, arrangement and bonding together of a set of components to form a junction between cells. hp.json intercellular junction assembly http://purl.obolibrary.org/obo/GO_0007043 HP:0031757 biolink:PhenotypicFeature Medial rectus muscle restriction Mechanical limitation of the range of movement of the medial rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0031757 NBO:0000270 biolink:NamedThing feeding behavior phenotype "Observable characteristic of behavior associated with the intake of food or liquids." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000270 GO:0010693 biolink:BiologicalProcess negative regulation of alkaline phosphatase activity Any process that decreases the frequency, rate or extent of alkaline phosphatase activity, the catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. hp.json http://purl.obolibrary.org/obo/GO_0010693 HP:0031758 biolink:PhenotypicFeature Lateral rectus muscle restriction Mechanical limitation of the range of movement of the lateral rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0031758 GO:0010694 biolink:BiologicalProcess positive regulation of alkaline phosphatase activity Any process that increases the frequency, rate or extent of alkaline phosphatase activity, the catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. hp.json http://purl.obolibrary.org/obo/GO_0010694 HP:0031759 biolink:PhenotypicFeature Basic constant esotropia A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times). hp.json Basic (constant) esotropia http://purl.obolibrary.org/obo/HP_0031759 GO:0010692 biolink:BiologicalProcess regulation of alkaline phosphatase activity Any process that modulates the frequency, rate or extent of alkaline phosphatase activity, the catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. hp.json http://purl.obolibrary.org/obo/GO_0010692 GO:0034641 biolink:BiologicalProcess cellular nitrogen compound metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. hp.json cellular nitrogen compound metabolism http://purl.obolibrary.org/obo/GO_0034641 goslim_chembl HP:0031753 biolink:PhenotypicFeature Medial rectus muscle weakness Decreased strength of the medial rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0031753 HP:0031754 biolink:PhenotypicFeature Medial rectus muscle overaction Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. hp.json http://purl.obolibrary.org/obo/HP_0031754 HP:0031755 biolink:PhenotypicFeature Abnormal rectus muscle physiology A functional anomaly of a vertical or horizontal rectus muscle. hp.json http://purl.obolibrary.org/obo/HP_0031755 GO:0034645 biolink:BiologicalProcess cellular macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. hp.json cellular macromolecule formation|cellular macromolecule anabolism|cellular biopolymer biosynthetic process|cellular macromolecule biosynthesis|cellular macromolecule synthesis http://purl.obolibrary.org/obo/GO_0034645 HP:0031756 biolink:PhenotypicFeature Medial rectus muscle underaction Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. hp.json http://purl.obolibrary.org/obo/HP_0031756 GO:0007019 biolink:BiologicalProcess microtubule depolymerization The removal of tubulin heterodimers from one or both ends of a microtubule. hp.json microtubule shortening|microtubule depolymerization during nuclear congression|microtubule catastrophe|microtubule disassembly http://purl.obolibrary.org/obo/GO_0007019 HP:0004180 biolink:PhenotypicFeature Short distal phalanx of the 3rd finger Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. UMLS:C4021681 hp.json Short distal phalanx of the third finger|Short terminal phalanx of middle finger|Hypoplastic/small distal phalanx of the 3rd finger|Short outermost bone of the middle finger http://purl.obolibrary.org/obo/HP_0004180 GO:0007018 biolink:BiologicalProcess microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. hp.json http://purl.obolibrary.org/obo/GO_0007018 goslim_generic|goslim_drosophila GO:0007017 biolink:BiologicalProcess microtubule-based process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. hp.json http://purl.obolibrary.org/obo/GO_0007017 goslim_chembl HP:0031760 biolink:PhenotypicFeature Non-accomodative esotropia A form of esotropia in which the angle of deviation is not affected by accommodative effort. hp.json http://purl.obolibrary.org/obo/HP_0031760 GO:0010668 biolink:BiologicalProcess ectodermal cell differentiation The process in which relatively unspecialized cells acquire specialized structural and/or functional features of an ectodermal cell. Differentiation includes the processes involved in commitment of a cell to a specific fate. hp.json http://purl.obolibrary.org/obo/GO_0010668 HP:0031761 biolink:PhenotypicFeature Infantile constant esotropia Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction. hp.json Infantile (constant) esotropia http://purl.obolibrary.org/obo/HP_0031761 HP:0031762 biolink:PhenotypicFeature Distance esotropia An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging. hp.json Divergence insufficiency http://purl.obolibrary.org/obo/HP_0031762 GO:0010666 biolink:BiologicalProcess positive regulation of cardiac muscle cell apoptotic process Any process that increases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death. hp.json positive regulation of cardiac muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010666 GO:0034637 biolink:NamedThing cellular carbohydrate biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0034637 GO:0010667 biolink:BiologicalProcess negative regulation of cardiac muscle cell apoptotic process Any process that decreases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death. hp.json down-regulation of cardiac muscle cell apoptosis|negative regulation of cardiac muscle cell apoptosis|down regulation of cardiac muscle cell apoptosis|inhibition of cardiac muscle cell apoptosis|downregulation of cardiac muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010667 HP:0031763 biolink:PhenotypicFeature Cyclic esotropia Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle. hp.json http://purl.obolibrary.org/obo/HP_0031763 GO:0007010 biolink:BiologicalProcess cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. hp.json cytoskeletal regulator activity|cytoskeleton organisation|cytoskeleton organization and biogenesis|cytoskeletal organization and biogenesis http://purl.obolibrary.org/obo/GO_0007010 goslim_yeast|goslim_generic|goslim_candida|goslim_drosophila|goslim_chembl|goslim_aspergillus HP:0031768 biolink:PhenotypicFeature Parafoveal fixation Fixation of an object in the area adjacent to the fovea. hp.json http://purl.obolibrary.org/obo/HP_0031768 GO:0010660 biolink:BiologicalProcess regulation of muscle cell apoptotic process Any process that modulates the rate or frequency of muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a muscle cell and result in its death. hp.json regulation of muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010660 HP:0031769 biolink:PhenotypicFeature Peripheral fixation Fixation of an object in a peripheral area of the retina. hp.json http://purl.obolibrary.org/obo/HP_0031769 GO:0010661 biolink:BiologicalProcess positive regulation of muscle cell apoptotic process Any process that increases the rate or frequency of muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a muscle cell and result in its death. hp.json positive regulation of muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010661 HP:0031764 biolink:PhenotypicFeature Fully accomodative esotropia Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction. hp.json http://purl.obolibrary.org/obo/HP_0031764 GO:0010664 biolink:BiologicalProcess negative regulation of striated muscle cell apoptotic process Any process that decreases the rate or extent of striated muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a striated muscle cell and result in its death. hp.json downregulation of striated muscle cell apoptosis|down regulation of striated muscle cell apoptosis|inhibition of striated muscle cell apoptosis|down-regulation of striated muscle cell apoptosis|negative regulation of striated muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010664 HP:0031765 biolink:PhenotypicFeature Partially accomodative esotropia A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses. hp.json Constant esotropia with an accommodative component|Constant esotropia with an accommodative element http://purl.obolibrary.org/obo/HP_0031765 GO:0010665 biolink:BiologicalProcess regulation of cardiac muscle cell apoptotic process Any process that modulates the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death. hp.json regulation of cardiac muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010665 HP:0031766 biolink:PhenotypicFeature Convergence excess esotropia An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. hp.json http://purl.obolibrary.org/obo/HP_0031766 GO:0010662 biolink:BiologicalProcess regulation of striated muscle cell apoptotic process Any process that modulates the rate or extent of striated muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a striated muscle cell and result in its death. hp.json regulation of striated muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010662 HP:0031767 biolink:PhenotypicFeature Consecutive esotropia Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection. hp.json http://purl.obolibrary.org/obo/HP_0031767 GO:0010663 biolink:BiologicalProcess positive regulation of striated muscle cell apoptotic process Any process that increases the rate or extent of striated muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a striated muscle cell and result in its death. hp.json positive regulation of striated muscle cell apoptosis http://purl.obolibrary.org/obo/GO_0010663 HP:0004174 biolink:PhenotypicFeature obsolete Accessory middle phalanx of middle finger hp.json http://purl.obolibrary.org/obo/HP_0004174 NBO:0000244 biolink:NamedThing pathological anxiety hp.json hysteria|pathological anxiety disorder http://purl.obolibrary.org/obo/NBO_0000244 HP:0004172 biolink:PhenotypicFeature Abnormality of the middle phalanx of the 3rd finger UMLS:C4025410 hp.json Abnormal middle finger bone of the middle finger http://purl.obolibrary.org/obo/HP_0004172 NBO:0000243 biolink:NamedThing behavioral phenotype "An observable characteristic of the behavior of an organism." [NBO:RH] hp.json http://purl.obolibrary.org/obo/NBO_0000243 HP:0004175 biolink:PhenotypicFeature obsolete Periosteal new bone of middle phalanx of middle-finger hp.json http://purl.obolibrary.org/obo/HP_0004175 HP:0004192 biolink:PhenotypicFeature obsolete Bracket epiphyses of the 4th finger hp.json http://purl.obolibrary.org/obo/HP_0004192 NBO:0000248 biolink:NamedThing obsessive-compulsive disorder "A pathological anxiety primarily characterized by repetitive obsessions (distressing, persistent, and intrusive thoughts or images) and compulsions (urges to perform specific acts or rituals)." [wikipedia:Obsessive%E2%80%93compulsive_disorder] hp.json OCD http://purl.obolibrary.org/obo/NBO_0000248 GO:0007028 biolink:BiologicalProcess cytoplasm organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the cytoplasm. The cytoplasm is all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. hp.json cytoplasm organisation|cytoplasm organization and biogenesis http://purl.obolibrary.org/obo/GO_0007028 goslim_pir NBO:0000246 biolink:NamedThing phobia "A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." [NBO:GVG] hp.json phobic disorder http://purl.obolibrary.org/obo/NBO_0000246 GO:0007027 biolink:BiologicalProcess negative regulation of axonemal microtubule depolymerization Any process that stops, prevents, or reduces the frequency, rate or extent of the depolymerization of the specialized microtubules of the axoneme. hp.json axonemal microtubule stabilization|negative regulation of microtubule depolymerization in axoneme http://purl.obolibrary.org/obo/GO_0007027 HP:0031771 biolink:PhenotypicFeature Epicanthus tarsalis A type of epicanthus in which a primarily upper lid fold is present. hp.json http://purl.obolibrary.org/obo/HP_0031771 GO:0007026 biolink:BiologicalProcess negative regulation of microtubule depolymerization Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol. hp.json microtubule stabilization|downregulation of microtubule depolymerization|down regulation of microtubule depolymerization|negative regulation of microtubule disassembly|negative regulation of microtubule catastrophe|inhibition of microtubule depolymerization|down-regulation of microtubule depolymerization|microtubule rescue http://purl.obolibrary.org/obo/GO_0007026 UBERON:8400024 biolink:AnatomicalEntity subcapsular region of liver Region of liver parenchyma immediately below the capsule. This region is frequently specified in pathology diagnoses. hp.json liver subcapsular tissue|liver subcapsular region|subcapsular tissue of liver http://purl.obolibrary.org/obo/UBERON_8400024 HP:0031772 biolink:PhenotypicFeature Abnormal posterior circulating artery morphology Any structural anomaly of the posterior circulating artery (PCOM). hp.json http://purl.obolibrary.org/obo/HP_0031772 HP:0031773 biolink:PhenotypicFeature Posterior communicating artery aneurysm A widening (ballooning) localized in the wall of the posterior communicating artery. hp.json http://purl.obolibrary.org/obo/HP_0031773 GO:0010677 biolink:BiologicalProcess negative regulation of cellular carbohydrate metabolic process Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. hp.json http://purl.obolibrary.org/obo/GO_0010677 HP:0031774 biolink:PhenotypicFeature Posterior communicating artery infundibulum A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery. hp.json http://purl.obolibrary.org/obo/HP_0031774 GO:0007020 biolink:BiologicalProcess microtubule nucleation The process in which tubulin alpha-beta heterodimers begin aggregation to form an oligomeric tubulin structure (a microtubule seed). Microtubule nucleation is the initiating step in the formation of a microtubule in the absence of any existing microtubules ('de novo' microtubule formation). Wikipedia:Microtubule_nucleation hp.json http://purl.obolibrary.org/obo/GO_0007020 HP:0031770 biolink:PhenotypicFeature Epicanthus palpebralis A type of epicanthus in which a medial vertical fold is present between upper and lower lids. hp.json http://purl.obolibrary.org/obo/HP_0031770 HP:0031779 biolink:PhenotypicFeature Excyclophoria A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other. hp.json http://purl.obolibrary.org/obo/HP_0031779 GO:0007030 biolink:BiologicalProcess Golgi organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus. hp.json Golgi organisation|Golgi organization and biogenesis http://purl.obolibrary.org/obo/GO_0007030 goslim_pir GO:0010675 biolink:BiologicalProcess regulation of cellular carbohydrate metabolic process Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. hp.json http://purl.obolibrary.org/obo/GO_0010675 HP:0031775 biolink:PhenotypicFeature Neurogenic strabismus An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. hp.json Paralytic strabismus http://purl.obolibrary.org/obo/HP_0031775 HP:0031776 biolink:PhenotypicFeature Cyclotropia A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). hp.json http://purl.obolibrary.org/obo/HP_0031776 GO:0010676 biolink:BiologicalProcess positive regulation of cellular carbohydrate metabolic process Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. hp.json http://purl.obolibrary.org/obo/GO_0010676 HP:0031777 biolink:PhenotypicFeature Cyclophoria A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. hp.json http://purl.obolibrary.org/obo/HP_0031777 HP:0031778 biolink:PhenotypicFeature Incyclophoria A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other. hp.json http://purl.obolibrary.org/obo/HP_0031778 CHEBI:140325 biolink:ChemicalSubstance secondary carboxamide A carboxamide resulting from the formal condensation of a carboxylic acid with a primary amine; formula RC(=O)NHR(1). hp.json secondary carboxamides http://purl.obolibrary.org/obo/CHEBI_140325 3_STAR NBO:0000256 biolink:NamedThing mood disorder hp.json http://purl.obolibrary.org/obo/NBO_0000256 HP:0004185 biolink:PhenotypicFeature obsolete Fused epiphysis of terminal phalanx of the middle finger hp.json http://purl.obolibrary.org/obo/HP_0004185 HP:0004184 biolink:PhenotypicFeature obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger hp.json http://purl.obolibrary.org/obo/HP_0004184 HP:0004183 biolink:PhenotypicFeature obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger hp.json http://purl.obolibrary.org/obo/HP_0004183 HP:0004188 biolink:PhenotypicFeature Abnormal 4th finger morphology UMLS:C4021680 hp.json Abnormality of the ring finger|Abnormality of the 4th finger http://purl.obolibrary.org/obo/HP_0004188 HP:0004187 biolink:PhenotypicFeature obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger hp.json http://purl.obolibrary.org/obo/HP_0004187 HP:0004186 biolink:PhenotypicFeature obsolete Large epiphysis of terminal phalanx of the middle finger hp.json http://purl.obolibrary.org/obo/HP_0004186 HP:0006739 biolink:PhenotypicFeature Squamous cell carcinoma of the skin Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. UMLS:C0553723|SNOMEDCT_US:254651007 hp.json Squamous skin carcinoma http://purl.obolibrary.org/obo/HP_0006739 CHEBI:35819 biolink:ChemicalSubstance branched-chain fatty acid Any fatty acid in which the parent hydrocarbon chain has one or more alkyl substituents; a common component in animal and bacterial lipids. The fatty acyl chain is usually saturated and the substituent a methyl group; however, unsaturated BCFAs are found in marine animals, and branches other than methyl are found in microbial lipids. KEGG:C05996|PMID:18318842 hp.json branched fatty acid|BCFA|branched-chain fatty acids|BCFAs|branched fatty acids|Branched chain fatty acid http://purl.obolibrary.org/obo/CHEBI_35819 3_STAR HP:0006735 biolink:PhenotypicFeature Renal cortical adenoma The presence of an adenoma in the cortex of the kidney. UMLS:C0346253|SNOMEDCT_US:254919009|NCIT:C2855 hp.json Kidney cortical adenoma http://purl.obolibrary.org/obo/HP_0006735 HP:0031702 biolink:PhenotypicFeature Anterior chamber red blood cells The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye. hp.json Anterior chamber RBCs http://purl.obolibrary.org/obo/HP_0031702 HP:0031703 biolink:PhenotypicFeature Abnormal ear morphology Any structural anomaly of the ear. Fyler:4867 hp.json http://purl.obolibrary.org/obo/HP_0031703 HP:0006737 biolink:PhenotypicFeature Extraadrenal pheochromocytoma Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia. UMLS:C1257877|MSH:D010673 hp.json Pheochromocytoma, extraadrenal http://purl.obolibrary.org/obo/HP_0006737 HP:0031704 biolink:PhenotypicFeature Abnormal ear physiology Any functional anomaly of the ear. hp.json http://purl.obolibrary.org/obo/HP_0031704 HP:0031705 biolink:PhenotypicFeature Compensatory head posture A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem. hp.json http://purl.obolibrary.org/obo/HP_0031705 HP:0006731 biolink:PhenotypicFeature Follicular thyroid carcinoma The presence of an follicular adenocarcinoma of the thyroid gland. SNOMEDCT_US:255028004|SNOMEDCT_US:28173006|MSH:D018263|SNOMEDCT_US:5257006|NCIT:C8054|UMLS:C0206682 hp.json http://purl.obolibrary.org/obo/HP_0006731 HP:0006732 biolink:PhenotypicFeature Papillary renal cell carcinoma type 2 A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. UMLS:C1336840 hp.json http://purl.obolibrary.org/obo/HP_0006732 HP:0006733 biolink:PhenotypicFeature Acute megakaryocytic leukemia A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts. UMLS:C0023467|SNOMEDCT_US:17788007|SNOMEDCT_US:413443009|MSH:D015470|SNOMEDCT_US:91861009 hp.json AMegL|Acute megakaryocytic leukaemia http://purl.obolibrary.org/obo/HP_0006733 HP:0031700 biolink:PhenotypicFeature Invasive parasitic infection A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host. hp.json http://purl.obolibrary.org/obo/HP_0031700 HP:0031701 biolink:PhenotypicFeature Anterior chamber inflammatory cells The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye. hp.json http://purl.obolibrary.org/obo/HP_0031701 HP:0031706 biolink:PhenotypicFeature Compensatory chin depression A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement. hp.json http://purl.obolibrary.org/obo/HP_0031706 HP:0031707 biolink:PhenotypicFeature Compensatory face turn to the right A tendency to turn the face to the right to compensate for a limitation of eye movement. hp.json http://purl.obolibrary.org/obo/HP_0031707 HP:0031708 biolink:PhenotypicFeature Compensatory face turn to the left A tendency to turn the face to the left to compensate for a limitation of eye movement. hp.json http://purl.obolibrary.org/obo/HP_0031708 HP:0031709 biolink:PhenotypicFeature Compensatory head tilt to the right shoulder A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement. hp.json http://purl.obolibrary.org/obo/HP_0031709 CHEBI:35825 biolink:ChemicalSubstance mandelic acid A 2-hydroxy monocarboxylic acid that is acetic acid in which two of the methyl hydrogens are substituted by phenyl and hydroxyl groups. Reaxys:510011|Wikipedia:Mandelic_acid|Drug_Central:1629|PMID:24278065|CAS:90-64-2|PMID:4813698|CAS:90-64-2|Gmelin:218213|Beilstein:510011|PMID:22770225|HMDB:HMDB0000703 hp.json (RS)-Mandelic acid|2-Hydroxy-2-phenylethanoic acid|hydroxy(phenyl)acetic acid|Mandelsaeure|DL-Mandelic acid|2-Hydroxy-2-phenylacetic acid|alpha-hydroxybenzeneacetic acid http://purl.obolibrary.org/obo/CHEBI_35825 3_STAR HP:0031713 biolink:PhenotypicFeature Constant exotropia A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times. hp.json http://purl.obolibrary.org/obo/HP_0031713 HP:0031714 biolink:PhenotypicFeature Distance exotropia A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent. hp.json http://purl.obolibrary.org/obo/HP_0031714 HP:0006747 biolink:PhenotypicFeature Ganglioneuroblastoma SNOMEDCT_US:69515008|SNOMEDCT_US:116381000119105|UMLS:C0206718|MSH:D018305 hp.json http://purl.obolibrary.org/obo/HP_0006747 HP:0006748 biolink:PhenotypicFeature Adrenal pheochromocytoma Pheochromocytoma originating from the adrenal medulla. SNOMEDCT_US:85583005|SNOMEDCT_US:399343007|UMLS:C0031511|MSH:D010673|SNOMEDCT_US:302835009|NCIT:C3326 hp.json Pheochromocytomas, adrenal|Pheochromocytoma, adrenal http://purl.obolibrary.org/obo/HP_0006748 HP:0031715 biolink:PhenotypicFeature Near exotropia An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant). hp.json http://purl.obolibrary.org/obo/HP_0031715 HP:0006749 biolink:PhenotypicFeature Malignant gastrointestinal tract tumors SNOMEDCT_US:428905002|MSH:D005770|UMLS:C0685938 hp.json Malignant GI tract tumours|Malignant GI tract tumors|Malignant gastrointestinal tract tumours http://purl.obolibrary.org/obo/HP_0006749 HP:0031716 biolink:PhenotypicFeature Cyclic exotropia A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle. hp.json http://purl.obolibrary.org/obo/HP_0031716 CHEBI:35821 biolink:ChemicalSubstance anticholesteremic drug A substance used to lower plasma cholesterol levels. hp.json antihypercholesterolemic agents|cholesterol inhibitor|hypocholesteremic agent|antihypercholesterolemic|anticholesteremic agent|cholesterol-lowering agent|anticholesteremic drugs|cholesterol-lowering drugs|anticholesteremic|cholesterol-lowering drug|cholesterol-lowering agents|antihypercholesterolemics|antihypercholesterolemic agent|antihypercholesterolemic drug|antihypercholesterolemic drugs http://purl.obolibrary.org/obo/CHEBI_35821 3_STAR HP:0006742 biolink:PhenotypicFeature Congenital neuroblastoma UMLS:C4024986 hp.json http://purl.obolibrary.org/obo/HP_0006742 HP:0006743 biolink:PhenotypicFeature Embryonal rhabdomyosarcoma SNOMEDCT_US:14269005|SNOMEDCT_US:404051002|UMLS:C0206656|MSH:D018233|NCIT:C8971 hp.json http://purl.obolibrary.org/obo/HP_0006743 HP:0031710 biolink:PhenotypicFeature Compensatory head tilt to the left shoulder A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement. hp.json http://purl.obolibrary.org/obo/HP_0031710 HP:0006744 biolink:PhenotypicFeature Adrenocortical carcinoma A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. MSH:D018268|NCIT:C2916|UMLS:C0206686|SNOMEDCT_US:255035007|SNOMEDCT_US:2227007 hp.json Adrenal gland carinoma|Adrenal carcinoma http://purl.obolibrary.org/obo/HP_0006744 HP:0031711 biolink:PhenotypicFeature Asymmetric abdominal aortic aneurysm An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric). hp.json http://purl.obolibrary.org/obo/HP_0031711 HP:0006740 biolink:PhenotypicFeature Transitional cell carcinoma of the bladder The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. UMLS:C0279680|NCIT:C2930|SNOMEDCT_US:255109008 hp.json Transitional cell bladder carcinoma http://purl.obolibrary.org/obo/HP_0006740 HP:0031717 biolink:PhenotypicFeature Alternating exotropia A type of exotropia in which either eye may be used for fixation. hp.json Alternating strabismus http://purl.obolibrary.org/obo/HP_0031717 HP:0031718 biolink:PhenotypicFeature Consecutive exotropia Exotropia in an individual who has previously had esotropia or esophoria. hp.json http://purl.obolibrary.org/obo/HP_0031718 CHEBI:23849 biolink:ChemicalSubstance diterpenoid Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups). LIPID_MAPS_class:LMPR0104 hp.json diterpenoides|C20 isoprenoids|diterpenoids http://purl.obolibrary.org/obo/CHEBI_23849 3_STAR HP:0031719 biolink:PhenotypicFeature True distance exotropia Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits. hp.json http://purl.obolibrary.org/obo/HP_0031719 HP:0006717 biolink:PhenotypicFeature Peripheral neuroepithelioma UMLS:C3489398|SNOMEDCT_US:254764001 hp.json http://purl.obolibrary.org/obo/HP_0006717 HP:0006719 biolink:PhenotypicFeature Benign gastrointestinal tract tumors UMLS:C0497538|SNOMEDCT_US:92118007 hp.json Benign gastrointestinal tract tumours|Benign GI tract tumors|Non-cancerous GI tumours|Non-cancerous GI tumors|Benign GI tract tumours http://purl.obolibrary.org/obo/HP_0006719 HP:0006713 biolink:PhenotypicFeature Aplasia/Hypoplasia of the scapulae UMLS:C4024991 hp.json Absent/small shoulder blade|Absent/underdeveloped shoulder blade http://purl.obolibrary.org/obo/HP_0006713 HP:0031724 biolink:PhenotypicFeature Microtropia A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs. hp.json http://purl.obolibrary.org/obo/HP_0031724 HP:0006714 biolink:PhenotypicFeature Aplasia/Hypoplasia of the sternum UMLS:C4024990 hp.json Absent/underdeveloped sternum|Absent/small sternum http://purl.obolibrary.org/obo/HP_0006714 HP:0031725 biolink:PhenotypicFeature Hypophoria A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards. hp.json http://purl.obolibrary.org/obo/HP_0031725 HP:0031726 biolink:PhenotypicFeature Incyclotropia A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other. hp.json http://purl.obolibrary.org/obo/HP_0031726 HP:0006715 biolink:PhenotypicFeature Glomus tympanicum paraganglioma UMLS:C1866555 hp.json Tympanic nerve tumours|Tympanic nerve tumors|Tympanic nerve tumor|Tympanic nerve tumour http://purl.obolibrary.org/obo/HP_0006715 HP:0031727 biolink:PhenotypicFeature Excyclotropia A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other. hp.json http://purl.obolibrary.org/obo/HP_0031727 HP:0006716 biolink:PhenotypicFeature Hereditary nonpolyposis colorectal carcinoma UMLS:C4024989 hp.json http://purl.obolibrary.org/obo/HP_0006716 HP:0031720 biolink:PhenotypicFeature Simulated distance exotropia Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation. hp.json http://purl.obolibrary.org/obo/HP_0031720 HP:0006710 biolink:PhenotypicFeature Aplasia/Hypoplasia of the clavicles Absence or underdevelopment of the clavicles (collar bones). UMLS:C4024993 hp.json Absent/small collarbone|Absent/underdeveloped collarbone http://purl.obolibrary.org/obo/HP_0006710 HP:0031721 biolink:PhenotypicFeature Sensory exotropia A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. hp.json Secondary exotropia http://purl.obolibrary.org/obo/HP_0031721 HP:0006711 biolink:PhenotypicFeature Aplasia/Hypoplasia involving bones of the thorax UMLS:C4024992 hp.json Absent/small outermost thorax bone|Absent/underdeveloped thorax bone http://purl.obolibrary.org/obo/HP_0006711 HP:0031722 biolink:PhenotypicFeature Near esotropia An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved. hp.json Non-accomodative convergence excess esotropia http://purl.obolibrary.org/obo/HP_0031722 PR:P09581 biolink:Protein macrophage colony-stimulating factor 1 receptor (mouse) A macrophage colony-stimulating factor 1 receptor that is encoded in the genome of mouse. UniProtKB:P09581 hp.json CSF-1 receptor (mouse)|Fms|CSF-1-R (mouse)|Csfmr|mCSF1R|M-CSF-R (mouse)|Csf1r|CSF-1R (mouse)|proto-oncogene c-Fms (mouse)|CD115 (mouse) http://purl.obolibrary.org/obo/PR_P09581 HP:0006712 biolink:PhenotypicFeature Aplasia/Hypoplasia of the ribs UMLS:C1847363 hp.json Absent/small ribs|Hypoplastic or missing ribs|Absent/underdeveloped ribs http://purl.obolibrary.org/obo/HP_0006712 HP:0031723 biolink:PhenotypicFeature Secondary esotropia Convergent squint which follows loss or impairment of vision. hp.json Sensory esotropia http://purl.obolibrary.org/obo/HP_0031723 OBO:nbo#has-input biolink:NamedThing has-input hp.json http://purl.obolibrary.org/obo/nbo#has-input HP:0031728 biolink:PhenotypicFeature Mild hypermetropia A form of hypermetropia with not more than +2.00 diopters. hp.json Mild hyperopia http://purl.obolibrary.org/obo/HP_0031728 HP:0031729 biolink:PhenotypicFeature Moderate hypermetropia A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. hp.json Moderate hyperopia http://purl.obolibrary.org/obo/HP_0031729 CHEBI:35804 biolink:ChemicalSubstance citrate(1-) A tricarboxylic acid monoanion that is the conjugate base of citric acid, obtained by deprotonation of one of the three carboxy groups. hp.json H2cit|dihydrogen citrate|H2cit(-) http://purl.obolibrary.org/obo/CHEBI_35804 3_STAR HP:0031730 biolink:PhenotypicFeature Axial myopia A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. hp.json http://purl.obolibrary.org/obo/HP_0031730 HP:0006729 biolink:PhenotypicFeature Retroperitoneal chemodectomas NCIT:C3308|UMLS:C4024987 hp.json http://purl.obolibrary.org/obo/HP_0006729 CHEBI:35808 biolink:ChemicalSubstance citrate(2-) A tricarboxylic acid dianion obtained by deprotonation of two of the three carboxy groups of citric acid. hp.json hydrogen citrate|Hcit(2-)|Hcit http://purl.obolibrary.org/obo/CHEBI_35808 3_STAR UBERON:0002294 biolink:AnatomicalEntity biliary system Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). MESH:D001659|GAID:279|NCIT:C12678|MA:0001273|FMA:79646 hp.json biliary apparatus|biliary tract http://purl.obolibrary.org/obo/UBERON_0002294 uberon_slim|pheno_slim HP:0006725 biolink:PhenotypicFeature Pancreatic adenocarcinoma The presence of an adenocarcinoma of the pancreas. SNOMEDCT_US:700423003|NCIT:C2852|UMLS:C0281361 hp.json http://purl.obolibrary.org/obo/HP_0006725 UBERON:0002293 biolink:AnatomicalEntity costochondral joint A bars of hyaline cartilage located between the distal part of a rib and a costal cartilage, connecting the ribs to the sternum . UMLS:C0224683|OpenCyc:Mx4rvfy27JwpEbGdrcN5Y29ycA|EMAPA:36490|MA:0001509|NCIT:C32392|FMA:7956 hp.json costochondral junction|chondrocostal synchondrosis|articulatio costochondralis|costochondral synchondrosis|articulationes costochondrales http://purl.obolibrary.org/obo/UBERON_0002293 uberon_slim|pheno_slim HP:0031736 biolink:PhenotypicFeature Involutional entropion An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. hp.json http://purl.obolibrary.org/obo/HP_0031736 UBERON:0002296 biolink:AnatomicalEntity dorsal mesentery The mesentery that originates from the dorsal side of the peritoneal cavity[ZFA]. EHDAA2:0004560|TAO:0005130|FMA:79795|EHDAA:3957|EHDAA:3934|EHDAA:3921|EHDAA:3019|EHDAA:3971|EHDAA:3033|ZFA:0005130 hp.json mesenterium dorsale commune|dorsal mesogastrium http://purl.obolibrary.org/obo/UBERON_0002296 uberon_slim|vertebrate_core HP:0031737 biolink:PhenotypicFeature Cicatricial entropion Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. hp.json http://purl.obolibrary.org/obo/HP_0031737 HP:0031738 biolink:PhenotypicFeature Mechanical entropion A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. hp.json http://purl.obolibrary.org/obo/HP_0031738 HP:0006727 biolink:PhenotypicFeature T-cell acute lymphoblastic leukemias Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. SNOMEDCT_US:128824003|MSH:D054218|UMLS:C1961099|SNOMEDCT_US:277575008 hp.json http://purl.obolibrary.org/obo/HP_0006727 UBERON:0002290 biolink:AnatomicalEntity choroid plexus of fourth ventricle Choroid plexus of the fourth ventricle. VHOG:0001375|ZFA:0001446|HBA:9710|MA:0000983|NLX:27388|BAMS:chp4|TAO:0001446|FMA:78492|DHBA:12808|UMLS:C0152293|EMAPA:32742|BAMS:cp4v|NCIT:C32308 hp.json fourth ventricle choroid plexus|choroid plexus fourth ventricle|fourth ventricle chorioid plexus of cerebral hemisphere|4th ventricle choroid plexus|chorioid plexus of cerebral hemisphere of fourth ventricle|chorioid plexus of fourth ventricle http://purl.obolibrary.org/obo/UBERON_0002290 vertebrate_core HP:0031731 biolink:PhenotypicFeature Increased tear production Increased lacrimation owing to overproduction of tears. hp.json http://purl.obolibrary.org/obo/HP_0031731 HP:0006721 biolink:PhenotypicFeature Acute lymphoblastic leukemia A form of acute leukemia characterized by excess lympoblasts. SNOMEDCT_US:128822004|SNOMEDCT_US:91857003|UMLS:C0023449 hp.json Acute lymphatic leukaemia|Acute lymphocytic leukemia|Acute lymphocytic leukaemia|Acute lymphatic leukemia|Acute lymphoid leukemia|Acute lymphoblastic leukaemia|Acute lymphoid leukaemia http://purl.obolibrary.org/obo/HP_0006721 HP:0031732 biolink:PhenotypicFeature Increased basal tear production A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance. hp.json http://purl.obolibrary.org/obo/HP_0031732 HP:0006722 biolink:PhenotypicFeature Small intestine carcinoid UMLS:C1868072 hp.json http://purl.obolibrary.org/obo/HP_0006722 HP:0031733 biolink:PhenotypicFeature Reflex tearing A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease). hp.json http://purl.obolibrary.org/obo/HP_0031733 UBERON:0002291 biolink:AnatomicalEntity central canal of spinal cord Spinal cord structure that is part of the ventricular system and is filled with cerebral-spinal fluid and runs the length of the spinal cord. MA:0001117|HBA:9422|DMBA:126652042|BAMS:C|UMLS:C0459414|BIRNLEX:1409|ZFA:0000938|EMAPA:35789|TAO:0000938|NCIT:C12891|BAMS:CC|DHBA:146035108|EHDAA2:0004361|FMA:78497|MBA:164 hp.json spinal cord central canal|canalis centralis|central canal|ventricle of spinal cord|central canal of spinal cord|central canal, spinal cord/medulla http://purl.obolibrary.org/obo/UBERON_0002291 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas HP:0031734 biolink:PhenotypicFeature Lacrimal pump failure A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion. hp.json http://purl.obolibrary.org/obo/HP_0031734 HP:0006723 biolink:PhenotypicFeature Intestinal carcinoid UMLS:C4024988 hp.json http://purl.obolibrary.org/obo/HP_0006723 CHEBI:23824 biolink:ChemicalSubstance diol A compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. Aliphatic diols are also called glycols. Wikipedia:Diol hp.json diols http://purl.obolibrary.org/obo/CHEBI_23824 3_STAR UBERON:0002298 biolink:AnatomicalEntity brainstem Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]. MBA:343|UMLS:C0006121|BIRNLEX:1565|MESH:D001933|MA:0000169|UMLS:C0006121|Wikipedia:Brainstem|SCTID:180925009|EMAPA:32678|EFO:0001962|ZFA:0001707|CALOHA:TS-0093|TAO:0002156|NCIT:C12441|BAMS:BS|BTO:0000146|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=236|FMA:79876|VHOG:0001457|EV:0100241 hp.json accessory medullary lamina of pallidum|truncus encephali|lamina medullaris accessoria|truncus encephali|brain stem|truncus encephalicus|lamina pallidi incompleta|lamella pallidi incompleta|lamina medullaris incompleta pallidi http://purl.obolibrary.org/obo/UBERON_0002298 uberon_slim|vertebrate_core|pheno_slim|efo_slim HP:0031739 biolink:PhenotypicFeature Abnormal oblique muscle physiology A functional anomaly of the inferior or superior oblique muscle. hp.json http://purl.obolibrary.org/obo/HP_0031739 UBERON:0002299 biolink:AnatomicalEntity alveolus of lung Spherical outcropping of the respiratory bronchioles and primary site of gas exchange with the blood. Alveoli are particular to mammalian lungs. Different structures are involved in gas exchange in other vertebrates[WP]. VHOG:0001445|FMA:7318|GAID:349|EMAPA:32682|BTO:0000060|MA:0000420|CALOHA:TS-0031|EFO:0001985|MESH:D011650|EV:0100043 hp.json alveolus pulmonis|lung alveolus|pulmonary alveolus|respiratory alveoli|alveolus pulmonis|respiratory alveolus|alveoli|alveolus http://purl.obolibrary.org/obo/UBERON_0002299 uberon_slim|pheno_slim|efo_slim HP:0006779 biolink:PhenotypicFeature Alveolar rhabdomyosarcoma UMLS:C0206655|MSH:D018232|SNOMEDCT_US:63449009|NCIT:C3749|SNOMEDCT_US:404053004 hp.json http://purl.obolibrary.org/obo/HP_0006779 HP:0006775 biolink:PhenotypicFeature Multiple myeloma A malignant plasma cell tumor growing within soft tissue or within the skeleton. SNOMEDCT_US:415112005|MSH:D010954|MSH:D009101|SNOMEDCT_US:55921005|SNOMEDCT_US:109989006|SNOMEDCT_US:10639003|UMLS:C0026764|UMLS:C0032131 hp.json Kahler's disease|Plasmocytoma http://purl.obolibrary.org/obo/HP_0006775 HP:0006778 biolink:PhenotypicFeature Benign genitourinary tract neoplasm A non-malignant neoplasm of the genitourinary system. UMLS:C3804991 hp.json Benign genitourinary tract tumour|Benign GU tract neoplasm|Benign genitourinary tract tumor http://purl.obolibrary.org/obo/HP_0006778 HP:0006771 biolink:PhenotypicFeature Duodenal adenocarcinoma A malignant epithelial tumor with a glandular organization that originates in the duodenum. SNOMEDCT_US:408644002|UMLS:C0278804|UMLS:C0541912|MSH:D004379|NCIT:C2852|SNOMEDCT_US:254570009 hp.json Duodenal cancer http://purl.obolibrary.org/obo/HP_0006771 HP:0006772 biolink:PhenotypicFeature Renal angiomyolipoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. NCIT:C3734|UMLS:C0241961|SNOMEDCT_US:254921004 hp.json Angiomyolipoma|Kidney angiomyolipoma http://purl.obolibrary.org/obo/HP_0006772 HP:0006773 biolink:PhenotypicFeature Cutaneous angiolipomas NCIT:C3733|UMLS:C4024980 hp.json http://purl.obolibrary.org/obo/HP_0006773 HP:0006774 biolink:PhenotypicFeature Ovarian papillary adenocarcinoma The presence of a papillary adenocarcinoma of the ovary. UMLS:C4024979|NCIT:C2853 hp.json http://purl.obolibrary.org/obo/HP_0006774 HP:0004112 biolink:PhenotypicFeature Midline nasal groove An abnormal groove on the midline of the nose that may extend to the nasal tip. UMLS:C4025412 hp.json Central nasal groove|Midline nasal groove http://purl.obolibrary.org/obo/HP_0004112 HP:0004110 biolink:PhenotypicFeature obsolete Radially deviated index finger phalanges hp.json http://purl.obolibrary.org/obo/HP_0004110 HP:0006770 biolink:PhenotypicFeature Clear cell renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. SNOMEDCT_US:254915003|SNOMEDCT_US:188251003|SNOMEDCT_US:41607009|UMLS:C0279702|MSH:D002292 hp.json Nonpapillary renal cell carcinoma http://purl.obolibrary.org/obo/HP_0006770 CHEBI:72813 biolink:ChemicalSubstance exopolysaccharide A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. Wikipedia:Extracellular_polymeric_substance|MetaCyc:Exopolysaccharides|PMID:11785425|PMID:18097339|PMID:20172021|PMID:19453747|PMID:17440912|PMID:20718297|PMID:15738217|PMID:2688547|PMID:1444258|PMID:16075348|PMID:6354590|PMID:20631870|Wikipedia:Exopolysaccharide|PMID:11160795 hp.json exopolysaccharides|extracellular polymeric substance|extracellular polymeric substances http://purl.obolibrary.org/obo/CHEBI_72813 3_STAR HP:0006789 biolink:PhenotypicFeature Mitochondrial encephalopathy UMLS:C1852373|MSH:C538525 hp.json http://purl.obolibrary.org/obo/HP_0006789 HP:0006782 biolink:PhenotypicFeature Malignant eosinophil proliferation UMLS:C1851585|MSH:C565054 hp.json http://purl.obolibrary.org/obo/HP_0006782 HP:0006783 biolink:PhenotypicFeature Posterior pharyngeal cleft UMLS:C1848389 hp.json http://purl.obolibrary.org/obo/HP_0006783 HP:0006784 biolink:PhenotypicFeature Paranasal sinus hypoplasia Underdevelopment of the paranasal sinuses. UMLS:C4280441|UMLS:C2749161|UMLS:C4280256|UMLS:C4280442 hp.json Underdevelopment of paranasal sinus|Decreased volume of paranasal sinus|Decreased pneumatization of paranasal sinus|Hypotrophic paranasal sinus|Decreased size of paranasal sinus|Small paranasal sinus|Decreased growth of paranasal sinus|Atelectasis of paranasal sinus http://purl.obolibrary.org/obo/HP_0006784 HP:0006785 biolink:PhenotypicFeature Limb-girdle muscular dystrophy Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). MSH:D049288|SNOMEDCT_US:93153005|UMLS:C0686353 hp.json limb girdle muscular dystrophy http://purl.obolibrary.org/obo/HP_0006785 HP:0004122 biolink:PhenotypicFeature Midline defect of the nose This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. UMLS:C4025411|UMLS:C4280539 hp.json Midline cleft of nose|Midline nasal defect|Central defect of nose|Central cleft of nose|Central nasal defect|Midline defect of the nose http://purl.obolibrary.org/obo/HP_0004122 HP:0006780 biolink:PhenotypicFeature Parathyroid carcinoma A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. UMLS:C0687150|SNOMEDCT_US:363481002|SNOMEDCT_US:255037004|MSH:D010282|NCIT:C2916 hp.json Parathyroid Cancer http://purl.obolibrary.org/obo/HP_0006780 HP:0004121 biolink:PhenotypicFeature obsolete Radially displaced proximal index finger phalanx hp.json http://purl.obolibrary.org/obo/HP_0004121 HP:0006781 biolink:PhenotypicFeature Hurthle cell thyroid adenoma A kind of thyroid adenoma characterized by the presence of oxyphil cells. UMLS:C1336750 hp.json http://purl.obolibrary.org/obo/HP_0006781 HP:0006758 biolink:PhenotypicFeature Malignant genitourinary tract tumor The presence of a malignant neoplasm of the genital system. UMLS:C1834728 hp.json Malignant GU tract tumor|Malignant genitourinary tract tumour|Malignant GU tract tumour http://purl.obolibrary.org/obo/HP_0006758 HP:0006753 biolink:PhenotypicFeature Neoplasm of the stomach A tumor (abnormal growth of tissue) of the stomach. UMLS:C4020813|UMLS:C0038356|NCIT:C3262|SNOMEDCT_US:126824007|MSH:D013274 hp.json Stomach tumour|Stomach tumor|Neoplasia of the stomach http://purl.obolibrary.org/obo/HP_0006753 HP:0006755 biolink:PhenotypicFeature Cutaneous leiomyosarcoma The presence of leiomyosarcoma of the skin. UMLS:C0346067|SNOMEDCT_US:254771006|NCIT:C3158 hp.json http://purl.obolibrary.org/obo/HP_0006755 HP:0006756 biolink:PhenotypicFeature Diffuse leiomyomatosis UMLS:C4024984 hp.json http://purl.obolibrary.org/obo/HP_0006756 HP:0006751 biolink:PhenotypicFeature Paraspinal neurofibromas UMLS:C4024985 hp.json http://purl.obolibrary.org/obo/HP_0006751 HP:0006768 biolink:PhenotypicFeature Localized neuroblastoma UMLS:C4024981 hp.json Localised neuroblastoma http://purl.obolibrary.org/obo/HP_0006768 HP:0006769 biolink:PhenotypicFeature Myxoid subcutaneous tumors UMLS:C1834421 hp.json Myxoid subcutaneous tumours http://purl.obolibrary.org/obo/HP_0006769 HP:0006765 biolink:PhenotypicFeature Chondrosarcoma A slowly growing malignant neoplasm derived from cartilage cells. UMLS:C0008479|MSH:D002813|SNOMEDCT_US:443520009|NCIT:C2946|SNOMEDCT_US:14990007 hp.json http://purl.obolibrary.org/obo/HP_0006765 HP:0006766 biolink:PhenotypicFeature Papillary renal cell carcinoma The presence of renal cell carcinoma in the renal papilla. NCIT:C2916|MSH:D002292|UMLS:C1306837 hp.json http://purl.obolibrary.org/obo/HP_0006766 HP:0006767 biolink:PhenotypicFeature Pituitary prolactin cell adenoma A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. SNOMEDCT_US:34337008|MSH:D015175|SNOMEDCT_US:134209002|UMLS:C0033375 hp.json Pituitary prolactinoma|Prolactin-secreting pituitary adenoma http://purl.obolibrary.org/obo/HP_0006767 HP:0006762 biolink:PhenotypicFeature Renal pelvic carcinoma The presence of a carcinoma in the renal pelvis. NCIT:C2916|UMLS:C4024983 hp.json http://purl.obolibrary.org/obo/HP_0006762 HP:0006763 biolink:PhenotypicFeature Anal canal squamous carcinoma UMLS:C4024982 hp.json http://purl.obolibrary.org/obo/HP_0006763 HP:0004100 biolink:PhenotypicFeature Abnormal 2nd finger morphology An anomaly of the second finger, also known as the index finger. UMLS:C4021683 hp.json Abnormality of the 2nd finger|Abnormality of index finger http://purl.obolibrary.org/obo/HP_0004100 UBERON:0016880 biolink:AnatomicalEntity future nervous system Primordium that develops into the nervous system. AAO:0000477 hp.json presumptive nervous system http://purl.obolibrary.org/obo/UBERON_0016880 UBERON:0002239 biolink:AnatomicalEntity floating rib A rib that is not connected to sternum or sternal cartilage. MA:0001399|FMA:7595|OpenCyc:Mx4rvaPCWZwpEbGdrcN5Y29ycA|EMAPA:37494 hp.json costa fluitante|costae fluitantes|vertebral rib|free rib|costae fluctuantes http://purl.obolibrary.org/obo/UBERON_0002239 pheno_slim|uberon_slim HP:0100088 biolink:PhenotypicFeature Abnormality of the epiphysis of the distal phalanx of the 2nd toe UMLS:C4022333 hp.json Abnormality of the end part of the outermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100088 HP:0100089 biolink:PhenotypicFeature Abnormality of the epiphysis of the middle phalanx of the 2nd toe UMLS:C4022332 hp.json Abnormality of the end part of the middle bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100089 HP:0100086 biolink:PhenotypicFeature Stippling of the epiphyses of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe. UMLS:C4022335 hp.json Speckled calcifications in the end part of the pinky toe bone|Speckled calcifications in the end part of the pinkie toe bone|Speckled calcifications in the end part of the little toe bone http://purl.obolibrary.org/obo/HP_0100086 UBERON:0016888 biolink:AnatomicalEntity transitional anatomical structure An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. AEO:0000132 hp.json http://purl.obolibrary.org/obo/UBERON_0016888 HP:0100087 biolink:PhenotypicFeature Triangular epiphyses of the 5th toe UMLS:C4022334 hp.json Triangular end part of the pinky toe bone|Triangular end part of the pinkie toe bone|Triangular end part of the little toe bone http://purl.obolibrary.org/obo/HP_0100087 UBERON:0016887 biolink:AnatomicalEntity entire extraembryonic component The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. EHDAA2:0000003|EMAPA:16042|AEO:0000195 hp.json extraembryonic component|extra-embryonic component http://purl.obolibrary.org/obo/UBERON_0016887 HP:0100084 biolink:PhenotypicFeature Pseudoepiphyses of the 5th toe UMLS:C4022337 hp.json http://purl.obolibrary.org/obo/HP_0100084 HP:0100085 biolink:PhenotypicFeature Small epiphyses of the 5th toe UMLS:C4022336 hp.json Small end part of the pinky toe bone|Small end part of the pinkie toe bone|Small end part of the little toe bone http://purl.obolibrary.org/obo/HP_0100085 HP:0100082 biolink:PhenotypicFeature Irregular epiphyses of the 5th toe UMLS:C4022339 hp.json Irregular end part of the little toe bone|Irregular end part of the pinky toe bone|Irregular end part of the pinkie toe bone http://purl.obolibrary.org/obo/HP_0100082 UBERON:0016884 biolink:AnatomicalEntity shoulder joint The joint that is formed by the union of the humerus, the scapula (or shoulder blade), and the clavicle (or collarbone). Commonly thought of as a single joint, the shoulder is actually made up of two separate joints - the glenohumeral and acromioclavicular joints. MESH:D012785 hp.json joint of shoulder region http://purl.obolibrary.org/obo/UBERON_0016884 HP:0100083 biolink:PhenotypicFeature Ivory epiphyses of the 5th toe Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. UMLS:C4022338 hp.json Increased bone density of end part of the pinkie toe bone|Increased bone density of end part of the little toe bone|Increased bone density of end part of the pinky toe bone http://purl.obolibrary.org/obo/HP_0100083 CHEBI:47880 biolink:ChemicalSubstance steroid ester KEGG:C15506 hp.json steroid esters http://purl.obolibrary.org/obo/CHEBI_47880 3_STAR UBERON:0016886 biolink:AnatomicalEntity muscle tissue of terminal part of digestive tract Any muscle tissue of the distalmost portion of the digestive tract. hp.json rectum muscle structure|rectum muscle http://purl.obolibrary.org/obo/UBERON_0016886 HP:0100080 biolink:PhenotypicFeature Enlarged epiphyses of the 5th toe UMLS:C4022341 hp.json Enlarged end part of the little toe bone|Enlarged end part of the pinky toe bone|Enlarged end part of the pinkie toe bone http://purl.obolibrary.org/obo/HP_0100080 UBERON:0016885 biolink:AnatomicalEntity epithelium of terminal part of digestive tract Epithelium lining the distalmost portion of the digestive tract. WBbt:0005800|BTO:0005445 hp.json rectum epithelium http://purl.obolibrary.org/obo/UBERON_0016885 HP:0100081 biolink:PhenotypicFeature Fragmentation of the epiphyses of the 5th toe UMLS:C4022340 hp.json Fragmentation of the end part of the pinky toe bone|Fragmentation of the end part of the pinkie toe bone|Fragmentation of the end part of the little toe bone http://purl.obolibrary.org/obo/HP_0100081 CHEBI:47882 biolink:ChemicalSubstance cyclic polypyrrole hp.json cyclic polypyrroles|macrocyclic polypyrroles|polypyrrole macrocycles http://purl.obolibrary.org/obo/CHEBI_47882 3_STAR HP:0100090 biolink:PhenotypicFeature Abnormality of the epiphysis of the proximal phalanx of the 2nd toe UMLS:C4022331 hp.json Abnormality of the end part of the innermost bone of the 2nd toe http://purl.obolibrary.org/obo/HP_0100090 CHEBI:33232 biolink:ChemicalSubstance application Intended use of the molecular entity or part thereof by humans. hp.json http://purl.obolibrary.org/obo/CHEBI_33232 3_STAR UBERON:0002241 biolink:AnatomicalEntity chondrocranium Endoskeletal elements that encase the brain, nose, inner ear[cjm]. that part of the neurocranium formed by endochondral ossification and comprising the bones of the base of the skull[TFD]. AAO:0010169|EMAPA:17681|EHDAA2:0000243|VHOG:0000288|ZFA:0001424|TAO:0001424|Wikipedia:Chondrocranium hp.json neurocranium|calvarium http://purl.obolibrary.org/obo/UBERON_0002241 vertebrate_core CHEBI:33233 biolink:ChemicalSubstance fundamental particle A particle not known to have substructure. hp.json elementary particle|elementary particles http://purl.obolibrary.org/obo/CHEBI_33233 3_STAR UBERON:0002240 biolink:AnatomicalEntity spinal cord Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO). DMBA:17651|XAO:0000020|ZFA:0000075|SCTID:180959008|EHDAA2:0001255|NCIT:C12464|DHBA:12890|BM:SpC|VHOG:0000601|TAO:0000075|BTO:0001279|CALOHA:TS-0953|UMLS:C0037925|EFO:0000110|UMLS:C0037925|AAO:0010151|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=22|BAMS:SP|MAT:0000183|BAMS:Spinal|FMA:7647|MA:0000216|EMAPA:17577|MIAA:0000183|EV:0100316|Wikipedia:Spinal_cord|BIRNLEX:1709|GAID:695|EHDAA:2863|OpenCyc:Mx4rvVjjk5wpEbGdrcN5Y29ycA|MESH:D013116 hp.json fissura cerebro-cerebellaris|spinal cord structure|cerebrocerebellar fissure|medulla spinalis|medulla spinalis|fissura cerebrocerebellaris|cerebro-cerebellar fissure|SpC|medulla spinalis|spinal medulla http://purl.obolibrary.org/obo/UBERON_0002240 pheno_slim|efo_slim|cumbo|uberon_slim|vertebrate_core|major_organ|organ_slim CHEBI:33234 biolink:ChemicalSubstance vitamin E Any member of a group of fat-soluble chromanols that exhibit biological activity against vitamin E deficiency. The vitamers in this class consists of a chroman-6-ol core which is substituted at position 2 by a methyl group and (also at position 2) either a saturated or a triply-unsaturated hydrocarbon chain consisting of three isoprenoid units. The major function of vitamin E is to act as a natural antioxidant by scavenging free radicals and molecular oxygen. PMID:7901680|PMID:34277234|PMID:7898412|PMID:33684201|PMID:33896432|MetaCyc:Vitamin-E|PMID:34278890|Wikipedia:Vitamin_E|PMID:33847203 hp.json vitamin-E|vitamins E|vitamin E vitamers|vitamin E vitamer|vitamin E http://purl.obolibrary.org/obo/CHEBI_33234 3_STAR CHEBI:33238 biolink:ChemicalSubstance monoatomic entity A monoatomic entity is a molecular entity consisting of a single atom. hp.json atomic entity|monoatomic entities http://purl.obolibrary.org/obo/CHEBI_33238 3_STAR CHEBI:59869 biolink:ChemicalSubstance L-alpha-amino acid zwitterion Zwitterionic form of an L-alpha-amino acid having an anionic carboxy group and a protonated amino group. hp.json L-alpha-amino acid zwitterions|an L-alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_59869 3_STAR UBERON:0002242 biolink:AnatomicalEntity nucleus pulposus The jelly-like substance in the middle of the spinal disc which is a remnant of the notochord. BTO:0003626|MESH:D000070614|EMAPA:18008|FMA:13550|MA:0000112|FMA:76703 hp.json nucleus pulposus (diskus intervertebralis)|nucleus pulposus of intervertebral disk|pulpy nucleus|nucleus propulsus|nucleus propulsus of intervertebral disk http://purl.obolibrary.org/obo/UBERON_0002242 pheno_slim|uberon_slim UBERON:0002245 biolink:AnatomicalEntity cerebellar hemisphere A paired regions of the cerebellum that lie outside and lateral to the central vermis[MP]. The cerebellum consists of three parts, a median and two lateral, which are continuous with each other, and are substantially the same in structure. The median portion is constricted, and is called the vermis, from its annulated appearance which it owes to the transverse ridges and furrows upon it; the lateral expanded portions are named the hemispheres. The lateral hemisphere is considered the portion of the cerebellum to develop most recently. [WP,unvetted]. MA:0000200|BAMS:CH|MBA:1073|EMAPA:35218|DHBA:10659|NCIT:C32726|UMLS:C0228465|HBA:12930|DMBA:16920|BIRNLEX:1575|FMA:76925 hp.json cerebellar hemisphere|cerebellar hemispheres|hemispherium cerebelli|cerebellum hemisphere|hemispherium cerebelli [H II - H X]|hemispherium cerebelli [hII-hX]|hemisphere of cerebellum|hemisphere of cerebellum [H II - H X] http://purl.obolibrary.org/obo/UBERON_0002245 pheno_slim|uberon_slim UBERON:0002244 biolink:AnatomicalEntity premaxilla One of the bones of the upper jaw situated between and in front of the maxillae[VHOG]. VHOG:0000426|EHDAA:6962|MA:0001493|AAO:0000461|ZFA:0000567|EHDAA:8033|FMA:77231|TAO:0000567|EMAPA:17641|FMA:76869 hp.json premaxillary|incisive bone|premaxillary bone|os incisivum|premaxillae|premaxilla bone http://purl.obolibrary.org/obo/UBERON_0002244 pheno_slim|uberon_slim|vertebrate_core UBERON:0002228 biolink:AnatomicalEntity rib An intersegmental rod-shaped bone that forms in the peritoneal membrane and attach to the vertebral parapophyses. MA:0000315|EFO:0003066|OpenCyc:Mx4rvVjNoZwpEbGdrcN5Y29ycA|UMLS:C0035561|VHOG:0001154|GAID:245|galen:Rib|FMA:7574|AAO:0000545|EMAPA:18010|NCIT:C12782|CALOHA:TS-2209|ZFA:0000538|MESH:D012272|TAO:0000538 hp.json dorsal rib|pleural rib|ribs http://purl.obolibrary.org/obo/UBERON_0002228 uberon_slim|vertebrate_core|pheno_slim|efo_slim HP:0100099 biolink:PhenotypicFeature Abnormality of the epiphysis of the proximal phalanx of the 5th toe UMLS:C4022322 hp.json Abnormality of the end part of the innermost bone of the little toe|Abnormality of the end part of the innermost bone of the pinkie toe|Abnormality of the end part of the innermost bone of the pinky toe http://purl.obolibrary.org/obo/HP_0100099 HP:0100097 biolink:PhenotypicFeature Abnormality of the epiphysis of the distal phalanx of the 5th toe UMLS:C4022324 hp.json Abnormality of the end part of the outermost bone of the pinky toe|Abnormality of the end part of the outermost bone of the little toe|Abnormality of the end part of the outermost bone of the pinkie toe http://purl.obolibrary.org/obo/HP_0100097 HP:0100098 biolink:PhenotypicFeature Abnormality of the epiphysis of the middle phalanx of the 5th toe UMLS:C4022323 hp.json Abnormality of the end part of the middle bone of the pinkie toe|Abnormality of the end part of the middle bone of the pinky toe|Abnormality of the end part of the middle bone of the little toe http://purl.obolibrary.org/obo/HP_0100098 HP:0100095 biolink:PhenotypicFeature Abnormality of the epiphysis of the middle phalanx of the 4th toe UMLS:C4022326 hp.json Abnormality of the end part of the middle bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100095 UBERON:0016879 biolink:AnatomicalEntity future central nervous system Primordium that develops into the central nervous system. hp.json presumptive central nervous system|future CNS http://purl.obolibrary.org/obo/UBERON_0016879 HP:0100096 biolink:PhenotypicFeature Abnormality of the epiphysis of the proximal phalanx of the 4th toe UMLS:C4022325 hp.json Abnormality of the end part of the innermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100096 HP:0100093 biolink:PhenotypicFeature Abnormality of the epiphysis of the proximal phalanx of the 3rd toe UMLS:C4022328 hp.json Abnormality of the end part of the innermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100093 HP:0100094 biolink:PhenotypicFeature Abnormality of the epiphysis of the distal phalanx of the 4th toe UMLS:C4022327 hp.json Abnormality of the end part of the outermost bone of the 4th toe http://purl.obolibrary.org/obo/HP_0100094 CHEBI:45212 biolink:ChemicalSubstance diphosphate(2-) A divalent inorganic anion obtained by removal of both protons from diphosphoric acid. PDBeChem:POP|DrugBank:DB02212|Gmelin:185085 hp.json H2P2O7(2-)|PYROPHOSPHATE 2-|dihydrogen diphosphate http://purl.obolibrary.org/obo/CHEBI_45212 3_STAR HP:0100091 biolink:PhenotypicFeature Abnormality of the epiphysis of the distal phalanx of the 3rd toe UMLS:C4022330 hp.json Abnormality of the end part of the outermost bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100091 HP:0100092 biolink:PhenotypicFeature Abnormality of the epiphysis of the middle phalanx of the 3rd toe UMLS:C4022329 hp.json Abnormality of the end part of the middle bone of the 3rd toe http://purl.obolibrary.org/obo/HP_0100092 CHEBI:33242 biolink:ChemicalSubstance inorganic hydride hp.json inorganic hydrides http://purl.obolibrary.org/obo/CHEBI_33242 3_STAR CHEBI:33245 biolink:ChemicalSubstance organic fundamental parent An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system. hp.json organic parent hydrides|organic fundamental parents http://purl.obolibrary.org/obo/CHEBI_33245 3_STAR CHEBI:33246 biolink:ChemicalSubstance inorganic group Any substituent group which does not contain carbon. hp.json inorganic groups http://purl.obolibrary.org/obo/CHEBI_33246 3_STAR CHEBI:33247 biolink:ChemicalSubstance organic group Any substituent group or skeleton containing carbon. hp.json organic groups http://purl.obolibrary.org/obo/CHEBI_33247 3_STAR CHEBI:33248 biolink:ChemicalSubstance hydrocarbyl group A univalent group formed by removing a hydrogen atom from a hydrocarbon. hp.json grupo hidrocarbilo|hydrocarbyl group|grupos hidrocarbilo|hydrocarbyl groups|groupe hydrocarbyle http://purl.obolibrary.org/obo/CHEBI_33248 3_STAR CHEBI:33249 biolink:ChemicalSubstance organyl group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. hp.json groupe organyle|organyl group|grupo organilo|grupos organilo|organyl groups http://purl.obolibrary.org/obo/CHEBI_33249 3_STAR UBERON:0002236 biolink:AnatomicalEntity costal cartilage The nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it. OpenCyc:Mx4rwP1g3pwpEbGdrcN5Y29ycA|EMAPA:35262|BTO:0001721|MESH:D066186|FMA:7591|NCIT:C32391|UMLS:C0222787|MA:0000106 hp.json sternal cartilage|cartilagines costales|cartilago costalis http://purl.obolibrary.org/obo/UBERON_0002236 pheno_slim|uberon_slim UBERON:0002235 biolink:AnatomicalEntity tubercle of rib The tubercle of a rib is an eminence on the posterior surface, at the junction of the neck and body of the rib, and nearer the lower than the upper border. It consists of an articular and a non-articular portion. The articular portion, the lower and more medial of the two, presents a small, oval surface for articulation with the end of the transverse process of the lower of the two vertebrae to which the head is connected. The non-articular portion is a rough elevation, and affords attachment to the ligament of the tubercle. The tubercle is much more prominent in the upper than in the lower ribs[WP]. EMAPA:37736|FMA:7583|NCIT:C52729|MA:0001417|UMLS:C0222809 hp.json tuberculum costae|rib tubercle http://purl.obolibrary.org/obo/UBERON_0002235 pheno_slim|uberon_slim UBERON:0002238 biolink:AnatomicalEntity false rib A rib that is not directly ventrally connected to the sternum. OpenCyc:Mx4rwLzzTZwpEbGdrcN5Y29ycA|MA:0001398|FMA:7594|EMAPA:37493 hp.json costa spuria|costae spuriae|asternal ribs http://purl.obolibrary.org/obo/UBERON_0002238 uberon_slim UBERON:0002237 biolink:AnatomicalEntity true rib A rib that is ventrally connected to the sternum. OpenCyc:Mx4rv4-iWJwpEbGdrcN5Y29ycA|FMA:7592|EMAPA:37774|MA:0001419 hp.json costa vera|costae verae http://purl.obolibrary.org/obo/UBERON_0002237 UBERON:0004895 biolink:AnatomicalEntity alveolar smooth muscle Alveolar smooth muscle is a type of non-striated muscle, found within the walls of the alveolus. MA:0002759|EMAPA:35122 hp.json http://purl.obolibrary.org/obo/UBERON_0004895 UBERON:0002231 biolink:AnatomicalEntity body of rib UMLS:C0448161|NCIT:C52728|MA:0001416|EMAPA:36014|FMA:7577 hp.json shaft of rib|rib body|rib shaft|corpus costae http://purl.obolibrary.org/obo/UBERON_0002231 UBERON:0002234 biolink:AnatomicalEntity proximal phalanx of manus A proximal phalanx that is part of a finger [Automatically generated definition]. EMAPA:37307|UMLS:C0730117|MA:0001395|NCIT:C52786|FMA:75816 hp.json proximal phalanx of manual digit|phalanx proximalis manus|hand proximal phalanx|proximal phalanx of hand|proximal phalanx of finger|proximal phalanx of fore digit|proximal manual phalanx http://purl.obolibrary.org/obo/UBERON_0002234 pheno_slim CHEBI:33240 biolink:ChemicalSubstance coordination entity An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands). hp.json coordination entity|coordination entities|coordination compounds http://purl.obolibrary.org/obo/CHEBI_33240 3_STAR UBERON:0004893 biolink:AnatomicalEntity interalveolar septum A the thin septum that separates adjacent pulmonary alveoli, containing connective tissue constituents of the respiratory tissue and the capillary network of the blood supply of the lung. BTO:0003149|NCIT:C49473|EMAPA:35433|UMLS:C1706784|MA:0000421 hp.json septum interalveolare|alveolar septum http://purl.obolibrary.org/obo/UBERON_0004893 pheno_slim UBERON:0004894 biolink:AnatomicalEntity alveolar wall A wall that contains the alveoli. UMLS:C0225695|BTO:0002543|FMA:14117|NCIT:C13085|MA:0002568|EMAPA:35120 hp.json alveolus wall|pulmonary interalveolar septum|wall of pulmonary alveolus|pulmonary alveolar wall http://purl.obolibrary.org/obo/UBERON_0004894 pheno_slim CHEBI:33241 biolink:ChemicalSubstance oxoacid derivative hp.json oxoacid derivatives http://purl.obolibrary.org/obo/CHEBI_33241 3_STAR UBERON:0002217 biolink:AnatomicalEntity synovial joint Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]. TAO:0005153|CALOHA:TS-2138|EHDAA2:0003183|FMA:7501|MA:0000322|OpenCyc:Mx4rv2bBV5wpEbGdrcN5Y29ycA|AEO:0000183|NCIT:C32461|galen:SynovialJoint|SCTID:113234001|ZFA:0005153|Wikipedia:Synovial_joint hp.json diarthrodial joints|diarthrosis joint|diarthroses|articulatio synoviale|diarthrosis http://purl.obolibrary.org/obo/UBERON_0002217 uberon_slim|vertebrate_core|pheno_slim CHEBI:23899 biolink:ChemicalSubstance icosanoid Any member of the group of signalling molecules arising from oxidation of the three C20 essential fatty acids (EFAs) icosapentaenoic acid (EPA), arachidonic acid (AA) and dihomo-gamma-linolenic acid (DGLA). PMID:12697726|PMID:19160658|LIPID_MAPS_class:LMFA03|PMID:2657063|Wikipedia:Eicosanoid|PMID:16107763 hp.json eicosanoid|eicosanoids|icosanoids|icosanoid http://purl.obolibrary.org/obo/CHEBI_23899 3_STAR CHEBI:47867 biolink:ChemicalSubstance indicator Anything used in a scientific experiment to indicate the presence of a substance or quality, change in a body, etc. hp.json Indikator http://purl.obolibrary.org/obo/CHEBI_47867 3_STAR CHEBI:47868 biolink:ChemicalSubstance photosensitizing agent A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells. hp.json photosensitising agent http://purl.obolibrary.org/obo/CHEBI_47868 3_STAR UBERON:0004880 biolink:AnatomicalEntity chordamesoderm The central region of trunk mesoderm. This tissue forms the notochord. AAO:0000478|EFO:0003426|ZFA:0000091|TAO:0000091 hp.json presumptive notochord|chorda mesoderm|axial chorda mesoderm|dorsal mesoderm|dorsal mesoderm http://purl.obolibrary.org/obo/UBERON_0004880 pheno_slim|efo_slim CHEBI:35871 biolink:ChemicalSubstance oxo monocarboxylic acid Any monocarboxylic acid having at least one additional oxo functional group. hp.json oxo monocarboxylic acids http://purl.obolibrary.org/obo/CHEBI_35871 3_STAR CHEBI:35875 biolink:ChemicalSubstance imidazopyrimidine hp.json imidazopyrimidines http://purl.obolibrary.org/obo/CHEBI_35875 3_STAR UBERON:0002224 biolink:AnatomicalEntity thoracic cavity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. EMAPA:36497|GAID:93|Wikipedia:Thoracic_cavity|SCTID:243949006|FMA:7565|OpenCyc:Mx4rmvyleLfEEduAAAACs6hRXg|OpenCyc:Mx4rvhU_TpwpEbGdrcN5Y29ycA|MESH:D035423|MA:0000032|NCIT:C12905|UMLS:C0230139 hp.json thoracic lumen|cavitas thoracis|cavity of thorax|cavitas thoracis|space of thoracic compartment|chest cavity|pectoral cavity|cavity of chest http://purl.obolibrary.org/obo/UBERON_0002224 pheno_slim|uberon_slim CHEBI:59845 biolink:ChemicalSubstance 3-hydroxy fatty acid Any fatty acid with a hydroxy functional group in the beta- or 3-position. beta-Hydroxy fatty acids accumulate during cardiac hypoxia, and can also be used as chemical markers of bacterial endotoxins. PMID:3094448|PMID:7406063|PMID:1226425|PMID:17392575 hp.json 3-OH fatty acid|3-hydroxy fatty acids|beta-hydroxy fatty acid|beta-OH fatty acids|beta-OH fatty acid|beta-hydroxy fatty acids|3-OH fatty acids http://purl.obolibrary.org/obo/CHEBI_59845 3_STAR UBERON:0002221 biolink:AnatomicalEntity fontanelle Anatomical structure that is a membranous gap between bones of the skull[TAO]. In humans: Fontanelles are soft spots on a baby's head which, during birth, enable the bony plates of the skull to flex, allowing the child's head to pass through the birth canal. The ossification of the bones of the skull cause the fontanelles to close over by a child's second birthday. The closures eventually form the sutures of the neurocranium. Although there are the two anterior and posterior fontanelles, there are two more fontanelles of interest, the mastoid fontanelle, and the sphenoidal fontanelle[WP]. ZFA:0005536|UMLS:C0224548|NCIT:C32621|MA:0001465|FMA:75438|TAO:0001738 hp.json fontanelles|fontanels|fontanel|fonticuli cranii http://purl.obolibrary.org/obo/UBERON_0002221 vertebrate_core|pheno_slim|uberon_slim UBERON:0004883 biolink:AnatomicalEntity lung mesenchyme The mass of tissue made up of mesenchymal cells in the lung. EMAPA:32866 hp.json lung-associated mesenchyme|mesenchyme of lung|pulmonary mesenchyme http://purl.obolibrary.org/obo/UBERON_0004883 pheno_slim CHEBI:21241 biolink:ChemicalSubstance hp.json http://purl.obolibrary.org/obo/CHEBI_21241 UBERON:0002207 biolink:AnatomicalEntity xiphoid process A cartilaginous extension to the distal part of the sternum. EMAPA:18725|UMLS:C0043356|FMA:7488|MA:0001334|NCIT:C33895 hp.json xiphoid process|processus xiphoideus|metasternum|processus xiphoideus|xiphoideus|xiphoid|xyphoid|xiphoid process|xiphoid process of sternum|xiphosternal junction|xiphisternum http://purl.obolibrary.org/obo/UBERON_0002207 uberon_slim|pheno_slim UBERON:0002209 biolink:AnatomicalEntity fibrous joint Nonsynovial joint in which the articulating bones or cartilages are connected by ligaments. Examples: sagittal suture, inferior tibiofibular syndesmosis, gomphosis.[FMA]. TAO:0005156|AEO:0000178|Wikipedia:Fibrous_joint|EMAPA:35344|SCTID:37772004|MA:0000321|ZFA:0005156|EHDAA2:0003178|FMA:7492 hp.json articulatio fibrosa|junctura fibrosa|junctura fibrosa http://purl.obolibrary.org/obo/UBERON_0002209 uberon_slim|vertebrate_core CHEBI:47857 biolink:ChemicalSubstance ureas hp.json urea derivatives http://purl.obolibrary.org/obo/CHEBI_47857 3_STAR UBERON:0002208 biolink:AnatomicalEntity sternebra One of the bony segments of the sternum[TFD]. EMAPA:18724|FMA:7489|MA:0001333 hp.json sternebral bone http://purl.obolibrary.org/obo/UBERON_0002208 uberon_slim|pheno_slim UBERON:0004869 biolink:AnatomicalEntity parietal organ A part of the epithalamus present in some animal species. The eye may be photoreceptive and is usually associated with the pineal gland, regulating circadian rhythmicity and hormone production for thermoregulation. The parietal eye is a part of the epithalamus, which can be divided into two major parts; the epiphysis (the pineal organ, or pineal gland if mostly endocrine) and the parietal organ (often called the parietal eye, or third eye if it is photoreceptive). It arises as an anterior evagination of the pineal organ or as a separate outgrowth of the roof of the diencephalon. In some species, it protrudes through the skull.[4] The parietal eye uses a different biochemical method of detecting light than rod cells or cone cells in a normal vertebrate eye[WP]. hp.json third eye|parietal eye http://purl.obolibrary.org/obo/UBERON_0004869 UBERON:0016855 biolink:AnatomicalEntity ventral part of optic cup The ventral region of the optic cup that gives rise to the ventral part of the retina. hp.json ventral region of optic cup|ventral optic cup http://purl.obolibrary.org/obo/UBERON_0016855 RO:0004047 biolink:NamedThing causally upstream of or within, positive effect hp.json http://purl.obolibrary.org/obo/RO_0004047 CHEBI:33229 biolink:ChemicalSubstance vitamin (role) A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. Wikipedia:Vitamin hp.json vitamin|vitamins|vitamines|vitamina|vitaminum|vitaminas|vitamine http://purl.obolibrary.org/obo/CHEBI_33229 3_STAR RO:0004046 biolink:NamedThing causally upstream of or within, negative effect hp.json http://purl.obolibrary.org/obo/RO_0004046 UBERON:0016854 biolink:AnatomicalEntity dorsal part of optic cup The dorsal region of the optic cup that gives rise to the dorsal part of the retina. hp.json dorsal region of optic cup|dorsal optic cup http://purl.obolibrary.org/obo/UBERON_0016854 CHEBI:33224 biolink:ChemicalSubstance chromane A benzopyran consisting of a pyran ring having a benzene ring ortho-fused across positions 2 and 3. CAS:493-08-3|Beilstein:116150|Reaxys:116150|Gmelin:122981|CAS:493-08-3 hp.json Chroman|3,4-dihydro-2H-1-benzopyran|3,4-dihydrobenzo[b]pyran|3,4-dihydro-2H-chromene|chromane http://purl.obolibrary.org/obo/CHEBI_33224 3_STAR CHEBI:59836 biolink:ChemicalSubstance oxo fatty acid anion A fatty acid anion carrying one or more oxo substituents hp.json oxo fatty acid anions|oxo-FA anion|oxo-FA anions http://purl.obolibrary.org/obo/CHEBI_59836 3_STAR UBERON:0002213 biolink:AnatomicalEntity cartilaginous joint Nonsynovial joint in which the articulating bones or cartilages are connected by cartilage. Examples: Spheno-occipital synchondrosis, first sternocostal joint, pubic symphysis.[FMA]. SCTID:58442004|MA:0000320|EMAPA:36581|FMA:7496|Wikipedia:Cartilaginous_joint|ZFA:0005155|TAO:0005155 hp.json articulatio cartilaginea|junctura cartilaginea|junctura cartilaginea http://purl.obolibrary.org/obo/UBERON_0002213 uberon_slim|vertebrate_core UBERON:0026246 biolink:AnatomicalEntity sacral spinal cord white matter BIRNLEX:1500 hp.json sacral spinal cord white matter|sacral spinal cord white matter http://purl.obolibrary.org/obo/UBERON_0026246 CHEBI:59835 biolink:ChemicalSubstance hydroxy fatty acid anion The conjugate base of any hydroxy fatty acid, formed by deprotonation of the carboxylic acid moiety. hp.json OH-fatty acid anion|OH-FA anion|hydroxy fatty acid anions|OH-FA-anions|OH-fatty acid anions http://purl.obolibrary.org/obo/CHEBI_59835 3_STAR UBERON:0002216 biolink:AnatomicalEntity symphysis Cartilaginous joint in which the articulating bones or cartilages are connected by fibrocartilage. Examples: pubic symphysis, intervertebral symphysis, manubriosternal joint.[FMA]. MA:0001504|Wikipedia:Symphysis|EMAPA:37758|FMA:7498|SCTID:1584001 hp.json secondary cartilaginous joint http://purl.obolibrary.org/obo/UBERON_0002216 uberon_slim UBERON:0004875 biolink:AnatomicalEntity nephrogenic cord A portion of the urogenital ridge which is the source of much of the urinary system[WP]. NCIT:C34219|FMA:72168|UMLS:C1283944 hp.json chorda nephrogenica http://purl.obolibrary.org/obo/UBERON_0004875 UBERON:0002215 biolink:AnatomicalEntity synchondrosis Cartilaginous joint in which the articulating bones or cartilages are connected by hyaline cartilage. Examples: spheno-occipital synchondrosis, first sternocostal joint.[FMA]. MA:0001501|FMA:7497|EMAPA:35846 hp.json epiphysial cartilage|primary cartilaginous joint|cartilago epiphysialis http://purl.obolibrary.org/obo/UBERON_0002215 uberon_slim|pheno_slim UBERON:0004876 biolink:AnatomicalEntity urogenital fold One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. FMA:321919|EMAPA:30888|EHDAA2:0004022 hp.json urogenital ridge|urogenital fold|urethral fold http://purl.obolibrary.org/obo/UBERON_0004876 pheno_slim UBERON:0004873 biolink:AnatomicalEntity splanchnopleure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the inner (or splanchnic) layer adheres to the endoderm, and with it forms the splanchnopleure[WP]. UMLS:C1519472|Wikipedia:Splanchnopleure|NCIT:C34303|VHOG:0000558|FMA:295564|EMAPA:16181|EHDAA:383|EHDAA2:0001903 hp.json ventral splanchnic mesoderm|ventral splanchnic mesoderm http://purl.obolibrary.org/obo/UBERON_0004873 UBERON:0002210 biolink:AnatomicalEntity syndesmosis Fibrous joint in which the articulating bones or cartilages of the vertebral column and the limbs as well as articulating ossicles, are connected by skeletal ligaments or membranes. Examples: Intervertebral syndesmosis, inferior tibiofibular joint.[FMA]. MA:0001500|FMA:7494|EMAPA:37465 hp.json http://purl.obolibrary.org/obo/UBERON_0002210 uberon_slim UBERON:0004874 biolink:AnatomicalEntity somatopleure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. Wikipedia:Somatopleure|NCIT:C34301|VHOG:0000557|FMA:295566|EMAPA:16180|UMLS:C1519423|EHDAA:381|EHDAA2:0001847 hp.json http://purl.obolibrary.org/obo/UBERON_0004874 CHEBI:35881 biolink:ChemicalSubstance pnictogen hydride hp.json pnictogen hydride|pnictogen hydrides http://purl.obolibrary.org/obo/CHEBI_35881 3_STAR UBERON:0004871 biolink:AnatomicalEntity somatic layer of lateral plate mesoderm Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. Wikipedia:Lateral_plate_mesoderm#Division_into_layers|XAO:0000271|AAO:0011100|BILA:0000047|FMA:295570 hp.json parietal mesoderm|somatic mesoderm|outer layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0004871 pheno_slim UBERON:0004872 biolink:AnatomicalEntity splanchnic layer of lateral plate mesoderm Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. Wikipedia:Lateral_plate_mesoderm#Division_into_layers|XAO:0000276|FMA:295568|AAO:0011102|BILA:0000044 hp.json visceral mesoderm|splanchnic mesoderm|visceral mesoderm|inner layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0004872 pheno_slim CHEBI:59826 biolink:ChemicalSubstance progestin A synthetic progestogen. Wikipedia:Progestin hp.json progestins http://purl.obolibrary.org/obo/CHEBI_59826 3_STAR RO:0004035 biolink:NamedThing acts upstream of, negative effect c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative hp.json http://purl.obolibrary.org/obo/RO_0004035 http://purl.obolibrary.org/obo/valid_for_go_gp2term RO:0004032 biolink:NamedThing acts upstream of or within, positive effect hp.json http://purl.obolibrary.org/obo/RO_0004032 http://purl.obolibrary.org/obo/valid_for_go_gp2term RO:0004031 biolink:NamedThing enables subfunction Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P. hp.json http://purl.obolibrary.org/obo/RO_0004031 RO:0004034 biolink:NamedThing acts upstream of, positive effect c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive hp.json http://purl.obolibrary.org/obo/RO_0004034 http://purl.obolibrary.org/obo/valid_for_go_gp2term RO:0004033 biolink:NamedThing acts upstream of or within, negative effect hp.json http://purl.obolibrary.org/obo/RO_0004033 http://purl.obolibrary.org/obo/valid_for_go_gp2term UBERON:0002285 biolink:AnatomicalEntity telencephalic ventricle A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere. MA:0000192|DMBA:126651562|UMLS:C0152279|GAID:611|MESH:D020547|EV:0100307|BAMS:Tel-V|NCIT:C12834|BAMS:LV|ZFA:0000696|OpenCyc:Mx4rvYsFdZwpEbGdrcN5Y29ycA|BTO:0000879|EHDAA:3502|DHBA:10596|BIRNLEX:1263|CALOHA:TS-1230|BM:Tel-LV|TAO:0000696|EHDAA2:0001984|UMLS:C0152279|FMA:78448|EMAPA:16914|MBA:81|EHDAA:6576|EFO:0001961|HBA:9419|VHOG:0000643 hp.json telencephalon lateral ventricle|forebrain ventricle|lateral ventricle of brain|telencephalic ventricle|lateral ventricles|lateral ventricle|telencephalic ventricles|telencephalic vesicle|tectal ventricle http://purl.obolibrary.org/obo/UBERON_0002285 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas|efo_slim UBERON:0002286 biolink:AnatomicalEntity third ventricle Part of the ventricular system of the brain, forming a single large cavity in the midline of the diencephalon; it is continuous with the lateral ventricles through the interventricular foramen and the fourth ventricle through the cerebral aqueduct. (Maryann Martone). MA:0000182|GAID:614|TAO:0000161|EMAPA:16900|NCIT:C12827|EHDAA2:0000084|DHBA:10602|BAMS:V3|FMA:78454|EV:0100308|OpenCyc:Mx4rvakhcJwpEbGdrcN5Y29ycA|BM:Die-3V|UMLS:C0149555|CALOHA:TS-2058|UMLS:C0149555|MESH:D020542|BIRNLEX:714|HBA:9420|MBA:129|BAMS:3V|ZFA:0000161|VHOG:0000007 hp.json ventriculus tertius cerebri|3rd ventricle|ventriculus diencephali|diencephalic vesicle|diencephalic ventricle http://purl.obolibrary.org/obo/UBERON_0002286 uberon_slim|vertebrate_core|pheno_slim UBERON:0002289 biolink:AnatomicalEntity midbrain cerebral aqueduct Part of ventricular system of brain consisting of a narrow channel in the midbrain connecting the third and fourth ventricles. (Maryann Martone). BAMS:AQ|BAMS:Aq|MA:0000208|EHDAA2:0001163|UMLS:C0007769|FMA:78467|EV:0100309|UMLS:C0007769|ZFA:0000159|MBA:140|DHBA:12369|HBA:265505702|EMAPA:17795|ncithesaurus:Cerebral_Aqueduct|TAO:0000159|DHBA:10651|MESH:D002535|GAID:583|NCIT:C32135|BIRNLEX:1261|EHDAA:3696|BM:MB-AQ|DMBA:126651722|EFO:0003501|VHOG:0000832 hp.json Sylvian aqueduct|mesencephalic vesicle|cerebral aqueduct proper|medial tectal ventricle|mesencephalic ventricle|aqueduct of Sylvius|aqueductus mesencephali|aqueductus mesencephali|cerebral aquaduct|midbrain ventricle|cerebral aqueduct|tectal ventricle|midbrain cerebral aqueduct|aqueduct (Sylvius)|cerebral aqueduct of Sylvius|aqueduct of Sylvius|aqueduct|mesencephalic duct|aqueduct of midbrain http://purl.obolibrary.org/obo/UBERON_0002289 human_reference_atlas|efo_slim|uberon_slim|vertebrate_core|pheno_slim UBERON:0002288 biolink:AnatomicalEntity choroid plexus of third ventricle Part of choroid plexus contained in the third ventricle. BAMS:cp3v|NLX:18606|MA:0000879|NCIT:C49782|UMLS:C0152291|VHOG:0001374|FMA:78462|ZFA:0001444|EMAPA:18543|BAMS:chp3|TAO:0001444|HBA:9709 hp.json choroid plexus third ventricle|chorioid plexus of cerebral hemisphere of third ventricle|third ventricle choroid plexus|third ventricle chorioid plexus of cerebral hemisphere|diencephalic choroid plexus|3rd ventricle choroid plexus|chorioid plexus of third ventricle http://purl.obolibrary.org/obo/UBERON_0002288 vertebrate_core CHEBI:23888 biolink:ChemicalSubstance drug Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. hp.json medicine|drugs http://purl.obolibrary.org/obo/CHEBI_23888 3_STAR CHEBI:35868 biolink:ChemicalSubstance hydroxy monocarboxylic acid Any monocarboxylic acid which also contains a separate (alcoholic or phenolic) hydroxy substituent. hp.json hydroxy acid|hydroxy monocarboxylic acids http://purl.obolibrary.org/obo/CHEBI_35868 3_STAR HP:0006706 biolink:PhenotypicFeature Cystic liver disease MSH:C536330|SNOMEDCT_US:72925005|UMLS:C0158683 hp.json http://purl.obolibrary.org/obo/HP_0006706 HP:0006707 biolink:PhenotypicFeature Abnormality of the hepatic vasculature An abnormality of the hepatic vasculature. UMLS:C4024994 hp.json Abnormality of the liver vasculature|Abnormality of liver blood vessels http://purl.obolibrary.org/obo/HP_0006707 HP:0006709 biolink:PhenotypicFeature Aplasia/Hypoplasia of the nipples UMLS:C3150086 hp.json Absent/underdeveloped nipples|Nipples absent or rudimentary|Absent/rudimentary nipples|Absent/small nipples http://purl.obolibrary.org/obo/HP_0006709 HP:0006702 biolink:PhenotypicFeature Coronary artery dissection Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. MSH:C565153|UMLS:C1852540 hp.json http://purl.obolibrary.org/obo/HP_0006702 HP:0006703 biolink:PhenotypicFeature Aplasia/Hypoplasia of the lungs UMLS:C4024996 hp.json Absent/small lungs|Absent/underdeveloped lungs http://purl.obolibrary.org/obo/HP_0006703 HP:0006704 biolink:PhenotypicFeature Abnormal coronary artery morphology Any structural abnormality of the coronary arteries. Fyler:3100|SNOMEDCT_US:28574005|UMLS:C0158623 hp.json http://purl.obolibrary.org/obo/HP_0006704 HP:0006705 biolink:PhenotypicFeature Abnormal atrioventricular valve morphology An abnormality of an atrioventricular valve. UMLS:C4024995 hp.json Abnormality of the atrioventricular valves http://purl.obolibrary.org/obo/HP_0006705 UBERON:0002270 biolink:AnatomicalEntity hyaloid artery An artery that is part of the optic stalk of the eye and extends from the optic disc through the vitreous humor to the lens. VHOG:0001478|TAO:0005045|FMA:77670|EHDAA2:0004072|XAO:0004155|EMAPA:19242|ZFA:0005045 hp.json arteria hyaloidea|central artery of retina|hyaloid arteries|Cloquets canal|Cloquet's canal http://purl.obolibrary.org/obo/UBERON_0002270 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas CHEBI:59814 biolink:ChemicalSubstance L-alpha-amino acid anion Conjugate base of an L-alpha-amino acid arising from deprotonation of the C-1 carboxy group. hp.json L-alpha-amino carboxylate http://purl.obolibrary.org/obo/CHEBI_59814 3_STAR UBERON:0002279 biolink:AnatomicalEntity vestibular aqueduct At the hinder part of the medial wall of the vestibule is the orifice of the vestibular aqueduct, which extends to the posterior surface of the petrous portion of the temporal bone. It transmits a small vein, and contains a tubular prolongation of the membranous labyrinth, the ductus endolymphaticus, which ends in a cul-de-sac between the layers of the dura mater within the cranial cavity. [WP,unvetted]. MA:0001186|FMA:77821|GAID:885|MESH:D014723 hp.json aqueductus vestibuli http://purl.obolibrary.org/obo/UBERON_0002279 pheno_slim|uberon_slim UBERON:0002275 biolink:AnatomicalEntity reticular formation A composite substructure of the brainstem that consists of the midbrain reticular formation, the pontine reticular formation and the medullary reticular formation ( Carpenter-1983 ). MESH:D012154|MA:0003185|Wikipedia:Reticular_formation|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1223|FMA:77719|EMAPA:35188|BAMS:RET|NLX:143558|SCTID:361552007 hp.json reticular formation of the brainstem|brainstem reticular formation|brainstem reticular formation|reticular formation (classical)|brain stem reticular formation http://purl.obolibrary.org/obo/UBERON_0002275 uberon_slim UBERON:0002263 biolink:AnatomicalEntity lentiform nucleus The lentiform nucleus or lenticular nucleus comprises the putamen and the globus pallidus within the basal ganglia. It is a large, cone-shaped mass of gray matter just lateral to the internal capsule. [WP,unvetted]. EV:0100186|EMAPA:18208|UMLS:C0162342|NCIT:C32977|MA:0000896|BTO:0002250|EMAPA:19147|FMA:77615|OpenCyc:Mx4rvvyH2ZwpEbGdrcN5Y29ycA hp.json lenticular nucleus|nucleus lentiformis|nucleus lentiformis|nucleus lenticularis http://purl.obolibrary.org/obo/UBERON_0002263 uberon_slim RO:0004007 biolink:NamedThing has primary input or output p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. RO:0004007 hp.json http://purl.obolibrary.org/obo/RO_0004007 http://purl.obolibrary.org/obo/valid_for_go_ontology RO:0004009 biolink:NamedThing has primary input p has primary input c if (a) p has input c and (b) the goal of process is to modify, consume, or transform c. RO:0004009 hp.json http://purl.obolibrary.org/obo/RO_0004009 http://purl.obolibrary.org/obo/valid_for_go_ontology RO:0004008 biolink:NamedThing has primary output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. RO:0004008 hp.json http://purl.obolibrary.org/obo/RO_0004008 http://purl.obolibrary.org/obo/valid_for_go_ontology UBERON:0002268 biolink:AnatomicalEntity olfactory organ An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. BTO:0001772|VHOG:0000287|AAO:0010180|FBbt:00005158|XAO:0000273|FMA:77659 hp.json olfactory neuroepithelium|organum olfactorium|primary olfactory organ|olfactory sensory organ|organ olfactus|main olfactory organ|olfactory sense organ|olfactory organ http://purl.obolibrary.org/obo/UBERON_0002268 functional_classification UBERON:0002265 biolink:AnatomicalEntity olfactory tract White matter tract that contains projections from the olfactory bulb to other parts of the brain. EMAPA:35615|DHBA:12074|BAMS:olf|DHBA:12073|UMLS:C0162435|MA:0000975|BIRNLEX:1663|NCIT:C33207|HBA:9302|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=283|FMA:77626|BTO:0003647 hp.json pedunclulus olfactorius|olfactory stalk|tractus olfactorius|tractus olfactorium|tractus olfactorius|olfactory peduncle http://purl.obolibrary.org/obo/UBERON_0002265 pheno_slim|human_reference_atlas|uberon_slim UBERON:0002264 biolink:AnatomicalEntity olfactory bulb A bulbous anterior projection of the olfactory lobe that is the place of termination of the olfactory nerves and is especially well developed in lower vertebrates (as fishes)[BTO]. BAMS:OB|FMA:77624|CALOHA:TS-0702|BTO:0000961|AAO:0010165|MA:0000194|NCIT:C28401|BAMS:DLB|BAMS:Olf|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=279|BM:Tel-OB|DHBA:10307|EV:0100173|MESH:D009830|EMAPA:32809|BIRNLEX:1137|ZFA:0000402|GAID:633|XAO:0004180|HBA:9303|VHOG:0000033|UMLS:C0028936|EHDAA2:0004705|TAO:0000402|UMLS:C0028936 hp.json olfactory lobe (Barr & Kiernan)|bulbus olfactorius (Morgagni)|olfactory lobe|bulbus olfactorius|bulbus olfactorius http://purl.obolibrary.org/obo/UBERON_0002264 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core UBERON:0016896 biolink:AnatomicalEntity periosteum of long bone A periosteum that is part of a long bone. FMA:32677 hp.json long bone periosteum http://purl.obolibrary.org/obo/UBERON_0016896 UBERON:0002250 biolink:AnatomicalEntity popliteal artery The continuation of the femoral artery coursing through the popliteal fossa; it divides into the anterior and posterior tibial arteries. MA:0002021|GAID:504|UMLS:C0032649|MESH:D011150|FMA:77155|NCIT:C33337|EMAPA:37109|OpenCyc:Mx4rvduV6pwpEbGdrcN5Y29ycA hp.json arteria poplitea http://purl.obolibrary.org/obo/UBERON_0002250 human_reference_atlas|uberon_slim UBERON:0002258 biolink:AnatomicalEntity dorsal funiculus of spinal cord The white substance of the spinal cord lying on either side between the posterior median sulcus and the dorsal root. ZFA:0000501|FMA:77461|TAO:0000501 hp.json posterior white column of spinal cord|posterior funiculus|posterior funiculus of spinal cord|dorsal funiculus|dorsal white column of spinal cord|funiculus dorsalis|dorsal funiculus of spinal cord|funiculus posterior medullae spinalis http://purl.obolibrary.org/obo/UBERON_0002258 uberon_slim|vertebrate_core UBERON:0002257 biolink:AnatomicalEntity ventral horn of spinal cord The ventral grey column of the spinal cord[MP]. The neurons of the ventral region of the mature spinal cord participate in motor output[GO]. BTO:0005151|MA:0001134|BAMS:VH|SCTID:279443000|UMLS:C0228569|BIRNLEX:2668|ZFA:0000702|NCIT:C33859|UMLS:C0228590|TAO:0000702|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1751|VHOG:0001288|EMAPA:35794|Wikipedia:Anterior_horn_of_spinal_cord|FMA:256541|EMAPA:18575 hp.json ventral region of spinal cord|anterior column|ventral horn spinal cord|ventral grey horn|spinal cord ventral horn|anterior column|spinal cord anterior horn|anterior horn|anterior grey column of spinal cord|ventral grey column of spinal cord|ventral spinal cord|cornu anterius medullae spinalis|cornu anterius medullae spinalis|anterior horn (spinal cord)|anterior column of the spinal cord|anterior horn (spinal cord)|anterior column of the spinal cord|ventral gray matter of spinal cord|columna grisea anterior medullae spinalis|ventral horns spinal cord|ventral horn of the spinal cord|anterior gray horn of spinal cord|anterior gray column of spinal cord|ventral gray column of spinal cord http://purl.obolibrary.org/obo/UBERON_0002257 pheno_slim|vertebrate_core UBERON:0004938 biolink:AnatomicalEntity submucosa of biliary tree A submucosa that is part of a biliary tree [Automatically generated definition]. FMA:18009 hp.json submucosa of biliary tract|biliary tree submucosa|biliary tract submucosa http://purl.obolibrary.org/obo/UBERON_0004938 UBERON:0004939 biolink:AnatomicalEntity submucosa of common bile duct A submucosa that is part of a common bile duct [Automatically generated definition]. FMA:18011 hp.json submucosa of ductus choledochus (biliaris)|ductus choledochus (biliaris) submucosa|common bile ductal submucosa|common bile duct submucosa http://purl.obolibrary.org/obo/UBERON_0004939 UBERON:0004936 biolink:AnatomicalEntity submucosa of pyloric antrum A submucosa that is part of a pyloric antrum [Automatically generated definition]. FMA:17060 hp.json antrum of stomach submucosa|submucosa of stomach pyloric antrum|pyloric antrum submucosa|submucosa of antrum of stomach|stomach pyloric antrum submucosa http://purl.obolibrary.org/obo/UBERON_0004936 UBERON:0004937 biolink:AnatomicalEntity submucosa of pylorus A submucosa that is part of a pylorus [Automatically generated definition]. FMA:17462|EMAPA:27201 hp.json pylorus submucosa|pyloric part of stomach submucosa|submucosa of stomach pyloric region|pylorus submucosa|pyloric submucosa|submucosa of pyloric part of stomach|stomach pyloric region submucosa http://purl.obolibrary.org/obo/UBERON_0004937 UBERON:0004934 biolink:AnatomicalEntity submucosa of body of stomach A submucosa that is part of a body of stomach [Automatically generated definition]. FMA:17059 hp.json corpus gastricum (ventriculare) submucosa|submucosa of gastric body|submucosa of stomach body|gastric body submucosa|submucosa of corpus gastricum (ventriculare)|body of stomach submucosa|stomach body submucosa http://purl.obolibrary.org/obo/UBERON_0004934 GO:0007113 biolink:BiologicalProcess endomitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. Wikipedia:Mitosis#Endomitosis hp.json endomitosis http://purl.obolibrary.org/obo/GO_0007113 GO:0010769 biolink:BiologicalProcess regulation of cell morphogenesis involved in differentiation Any process that modulates the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. hp.json http://purl.obolibrary.org/obo/GO_0010769 UBERON:0016918 biolink:AnatomicalEntity upper vermilion A vermilion that is part of a upper lip. FMA:59827 hp.json vermilion border of upper lip|vermilion of upper lip http://purl.obolibrary.org/obo/UBERON_0016918 GO:0010760 biolink:BiologicalProcess negative regulation of macrophage chemotaxis Any process that decreases the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0010760 UBERON:0016919 biolink:AnatomicalEntity lower vermilion A vermilion that is part of a lower lip. FMA:59828|SCTID:245800000 hp.json vermilion border of lower lip|vermilion of lower lip http://purl.obolibrary.org/obo/UBERON_0016919 GO:0010763 biolink:BiologicalProcess positive regulation of fibroblast migration Any process that increases the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. hp.json positive regulation of fibroblast cell migration http://purl.obolibrary.org/obo/GO_0010763 UBERON:0016913 biolink:AnatomicalEntity frenulum of lower lip A frenulum of lip that is part of a lower lip. FMA:59822 hp.json lower lip frenulum|frenulum labii inferioris|f. labii inferioris|frenulum labii inferioris http://purl.obolibrary.org/obo/UBERON_0016913 GO:0010764 biolink:BiologicalProcess negative regulation of fibroblast migration Any process that decreases the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. hp.json negative regulation of fibroblast cell migration http://purl.obolibrary.org/obo/GO_0010764 GO:0010761 biolink:BiologicalProcess fibroblast migration Cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium. A fibroblast is a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. hp.json fibroblast cell migration http://purl.obolibrary.org/obo/GO_0010761 UBERON:0016915 biolink:AnatomicalEntity vermilion The zone of the skin that surrounds a lip and is colored red due to thin epithelium and presence of eleidin. SCTID:362086008|FMA:59824 hp.json vermilion of lip|vermillion|vermilion border of lip|vermilion border http://purl.obolibrary.org/obo/UBERON_0016915 GO:0010762 biolink:BiologicalProcess regulation of fibroblast migration Any process that modulates the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. hp.json regulation of fibroblast cell migration http://purl.obolibrary.org/obo/GO_0010762 UBERON:0004943 biolink:AnatomicalEntity submucosa of urinary bladder The submucous layer of the wall of the urinary bladder. BTO:0002117|EMAPA:32275|FMA:15929 hp.json submucosa of bladder|bladder submucosa|tela submucosa vesicae|submucous layer of urinary bladder|tela submucosa vesicae urinariae|urinary bladder submucosa|tela submucosa (vesica urinaria) http://purl.obolibrary.org/obo/UBERON_0004943 human_reference_atlas UBERON:0004941 biolink:AnatomicalEntity submucosa of right hepatic duct A submucosa that is part of a right hepatic duct [Automatically generated definition]. FMA:18015 hp.json right hepatic duct submucosa|right hepatic ductal submucosa http://purl.obolibrary.org/obo/UBERON_0004941 UBERON:0004942 biolink:AnatomicalEntity submucosa of left hepatic duct A submucosa that is part of a left hepatic duct [Automatically generated definition]. FMA:18017 hp.json left hepatic duct submucosa|left hepatic ductal submucosa http://purl.obolibrary.org/obo/UBERON_0004942 UBERON:0004940 biolink:AnatomicalEntity submucosa of common hepatic duct A submucosa that is part of a common hepatic duct [Automatically generated definition]. FMA:18014 hp.json hepatic duct submucosa|submucosa of hepatic duct|common hepatic duct submucosa|common hepatic ductal submucosa http://purl.obolibrary.org/obo/UBERON_0004940 UBERON:0004925 biolink:AnatomicalEntity submucosa of laryngopharynx A submucosa that is part of a hypopharynx [Automatically generated definition]. FMA:55072 hp.json submucosa of hypopharynx|tela submucosa (pars laryngea pharyngis)|hypopharynx submucosa|submucosa of laryngeal pharynx|laryngeal pharynx submucosa|laryngopharynx submucosa http://purl.obolibrary.org/obo/UBERON_0004925 UBERON:0004926 biolink:AnatomicalEntity submucosa of cystic duct A submucosa that is part of a cystic duct [Automatically generated definition]. FMA:18013 hp.json cystic ductal submucosa|cystic duct submucosa http://purl.obolibrary.org/obo/UBERON_0004926 UBERON:0004923 biolink:AnatomicalEntity organ component layer A part of a wall of an organ that forms a layer. FMA:82485 hp.json http://purl.obolibrary.org/obo/UBERON_0004923 upper_level UBERON:0004924 biolink:AnatomicalEntity submucosa of pharynx The tissue underlying the tunica mucosa of the pharynx. SCTID:19594009|BTO:0002113|FMA:75144 hp.json submucous coat of pharynx|pharynx submucosa|tela submucosa pharyngis|pharyngobasilar fascia|pharyngeal submucosa|submucous layer of pharynx|tela submucosa pharyngea http://purl.obolibrary.org/obo/UBERON_0004924 UBERON:0016910 biolink:AnatomicalEntity frenulum of lip FMA:59820 hp.json labial frenulum|frenulum labii|lip frenulum|medial labial frenulum http://purl.obolibrary.org/obo/UBERON_0016910 UBERON:0016912 biolink:AnatomicalEntity frenulum of upper lip A frenulum of lip that is part of a upper lip. FMA:59821 hp.json upper lip frenulum|frenulum labii superioris|f. labii superioris http://purl.obolibrary.org/obo/UBERON_0016912 GO:0009790 biolink:BiologicalProcess embryo development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. Wikipedia:Embryogenesis hp.json embryogenesis|embryogenesis and morphogenesis|embryonal development http://purl.obolibrary.org/obo/GO_0009790 gocheck_do_not_manually_annotate|goslim_plant|goslim_chembl GO:0009791 biolink:BiologicalProcess post-embryonic development The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. hp.json http://purl.obolibrary.org/obo/GO_0009791 goslim_plant GO:0010770 biolink:BiologicalProcess positive regulation of cell morphogenesis involved in differentiation Any process that increases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. hp.json http://purl.obolibrary.org/obo/GO_0010770 GO:0010771 biolink:BiologicalProcess negative regulation of cell morphogenesis involved in differentiation Any process that decreases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. hp.json http://purl.obolibrary.org/obo/GO_0010771 GO:0009786 biolink:BiologicalProcess regulation of asymmetric cell division Any process that modulates the frequency, rate or extent of asymmetric cell division. hp.json http://purl.obolibrary.org/obo/GO_0009786 UBERON:0004932 biolink:AnatomicalEntity submucosa of sigmoid colon A submucosa that is part of a sigmoid colon [Automatically generated definition]. FMA:15027 hp.json sigmoid colon submucosa http://purl.obolibrary.org/obo/UBERON_0004932 UBERON:0004931 biolink:AnatomicalEntity submucosa of descending colon A submucosa that is part of a descending colon [Automatically generated definition]. FMA:15020 hp.json descending colon submucosa http://purl.obolibrary.org/obo/UBERON_0004931 UBERON:0004919 biolink:AnatomicalEntity external urethral sphincter FMA:85274|EMAPA:37790|MA:0002401|NCIT:C52561|UMLS:C1710586 hp.json urethralis|m. urethralis|urethralis muscle|external urethral sphincter muscle|external sphincter muscle of urethra|external sphincter of urethra|musculus sphincter urethrae membranaceae|annulus urethralis http://purl.obolibrary.org/obo/UBERON_0004919 UBERON:0004916 biolink:AnatomicalEntity anal sphincter A sphincter muscle that is part of a anal region. EMAPA:36052 hp.json sphincter analia|anal region sphincter http://purl.obolibrary.org/obo/UBERON_0004916 UBERON:0004917 biolink:AnatomicalEntity urethral sphincter A sphincter muscle surrounding the urethra. EMAPA:37789|MA:0002650 hp.json urethral sphincter muscle|sphincter muscle of urethra|sphincter urethrae|sphincter of urethra http://purl.obolibrary.org/obo/UBERON_0004917 UBERON:0004914 biolink:AnatomicalEntity duodenal papilla One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. MA:0003107|EMAPA:18662|NCIT:C119578|FMA:15953 hp.json papilla duodenalis|papilla of duodenum|papilla duodeni http://purl.obolibrary.org/obo/UBERON_0004914 UBERON:0004915 biolink:AnatomicalEntity sphincter of hepatopancreatic ampulla Muscular valve that controls the flow of digestive juices (bile and pancreatic juice) through the ampulla of Vater into the second part of the duodenum. Relaxed by the hormone Cholecystokinin (CCK) via vasoactive intestinal polypeptide (VIP).[WP]. EMAPA:18663|FMA:15077|GAID:285|UMLS:C0028872|MESH:D009803|NCIT:C13065 hp.json sphincter of Oddi|musculus sphincter ampullae|hepatopancreatic ampullary sphincter|sphincter of ampulla of vater|musculus sphincter ampullae hepatopancreatica|Oddi's sphincter http://purl.obolibrary.org/obo/UBERON_0004915 human_reference_atlas UBERON:0004912 biolink:AnatomicalEntity biliary bud VHOG:0001351|EMAPA:16561|EMAPA_RETIRED:16565|EHDAA2:0000171 hp.json hepatic diverticulum http://purl.obolibrary.org/obo/UBERON_0004912 UBERON:0004913 biolink:AnatomicalEntity hepatopancreatic ampulla A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct. galen:AmpullaOfVater|FMA:15076|GAID:283|ZFA:0005167|NCIT:C13011|TAO:0005167|CALOHA:TS-2348|MESH:D014670|UMLS:C0042425 hp.json biliaropancreatic ampulla|ampulla of bile duct|papilla duodeni major|ampulla of Vater|ampulla biliaropancreatica|ampulla Vaterii|ampulla hepatopancreatica|papilla Vateri|Vater's ampulla http://purl.obolibrary.org/obo/UBERON_0004913 vertebrate_core|human_reference_atlas NBO:0000160 biolink:NamedThing sleep duration hp.json http://purl.obolibrary.org/obo/NBO_0000160 GO:0071709 biolink:BiologicalProcess membrane assembly The aggregation, arrangement and bonding together of a set of components to form a membrane. hp.json http://purl.obolibrary.org/obo/GO_0071709 GO:0071705 biolink:BiologicalProcess nitrogen compound transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0071705 GO:0071704 biolink:BiologicalProcess organic substance metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. hp.json organic molecular entity metabolism|organic substance metabolism|organic molecular entity metabolic process http://purl.obolibrary.org/obo/GO_0071704 GO:0071702 biolink:BiologicalProcess organic substance transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. hp.json http://purl.obolibrary.org/obo/GO_0071702 GO:0009755 biolink:BiologicalProcess hormone-mediated signaling pathway The series of molecular signals mediated by the detection of a hormone. hp.json hormone mediated signalling http://purl.obolibrary.org/obo/GO_0009755 UBERON:0004921 biolink:AnatomicalEntity subdivision of digestive tract A proximal-distal subdivision of the digestive tract. FMA:71131|FBbt:00100315 hp.json alimentary system subdivision|intestinal tract|subdivision of alimentary system|segment of intestinal tract http://purl.obolibrary.org/obo/UBERON_0004921 non_informative NBO:0000163 biolink:NamedThing REM frequency hp.json http://purl.obolibrary.org/obo/NBO_0000163 NBO:0000162 biolink:NamedThing REM duration "Duration of REM sleep." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000162 UBERON:0004907 biolink:AnatomicalEntity lower digestive tract The region of the digestive tract extending from the beginning of the intestines to the anus[GO - gut definition]. UMLS:C0226875|galen:LowerGastrointestinalTract|FMA:49179|Wikipedia:Alimentary_canal#Upper_gastrointestinal_tract|SCTID:279973004|NCIT:C33010 hp.json lower gastrointestinal tract|gut|lower GI tract http://purl.obolibrary.org/obo/UBERON_0004907 uberon_slim UBERON:0004908 biolink:AnatomicalEntity upper digestive tract The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. NCIT:C33837|UMLS:C0226874|galen:UpperGastrointestinalTract|SCTID:181244000|FMA:49177|Wikipedia:Alimentary_canal#Upper_gastrointestinal_tract hp.json upper GI tract|upper gastrointestinal tract http://purl.obolibrary.org/obo/UBERON_0004908 uberon_slim UBERON:0004905 biolink:AnatomicalEntity articulation Anatomical cluster that connects two or more adjacent skeletal elements or hardened body parts. FBbt:00005811 hp.json joint http://purl.obolibrary.org/obo/UBERON_0004905 grouping_class UBERON:0004906 biolink:AnatomicalEntity ectodermal part of digestive tract A portion of the gut that is derived from ectoderm. hp.json gut ectoderm|ectodermal gut http://purl.obolibrary.org/obo/UBERON_0004906 UBERON:0004904 biolink:AnatomicalEntity neuron projection bundle connecting eye with brain A neuron projection bundle that connects the retina or its analog in the eye with the brain. This includes the vertebrate optic nerve (not truly a nerve) as well as analogous structures such as the Bolwig nerve in Drosophila. BTO:0000966|EV:0100351|FBbt:00001956|TADS:0000232 hp.json optic nerve|optic nerve (generic) http://purl.obolibrary.org/obo/UBERON_0004904 grouping_class|pheno_slim UBERON:0004902 biolink:AnatomicalEntity urogenital sinus epithelium The fetal urogenital sinus (from which the prostate derives) is a simple cylinder of stratified basal epithelium, surrounded by mesenchyme and positioned between the embryonic bladder and pelvic urethra. EMAPA:31509|EHDAA2:0004061 hp.json epithelium of urogenital sinus|UGE http://purl.obolibrary.org/obo/UBERON_0004902 UBERON:0004909 biolink:AnatomicalEntity epithelium of gonad An epithelium surrounding a gonad. EHDAA:4032|NCIT:C32676|EHDAA:5931|UMLS:C1517534 hp.json gonadal epithelium|gonad epithelium|gonadal sheath http://purl.obolibrary.org/obo/UBERON_0004909 GO:0010758 biolink:BiologicalProcess regulation of macrophage chemotaxis Any process that modulates the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0010758 GO:0010759 biolink:BiologicalProcess positive regulation of macrophage chemotaxis Any process that increases the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0010759 NBO:0000170 biolink:NamedThing memory behavior "Behavior related with the ability of an organism's ability to store, retain, and recall information and experiences." [NBO:GVG] hp.json memory behaviour http://purl.obolibrary.org/obo/NBO_0000170 UBERON:0004910 biolink:AnatomicalEntity epithelium of male gonad An epithelium surrounding a testis. BTO:0001364|EMAPA:17973 hp.json testis epithelium|testis sheath http://purl.obolibrary.org/obo/UBERON_0004910 UBERON:0004911 biolink:AnatomicalEntity epithelium of female gonad An epithelium surrounding an ovary. BTO:0003661 hp.json ovarian epithelium|ovary epithelium|ovarian sheath http://purl.obolibrary.org/obo/UBERON_0004911 CL:2000070 biolink:Cell optic choroid fibroblast Any fibroblast that is part of a optic choroid. hp.json http://purl.obolibrary.org/obo/CL_2000070 CL:2000072 biolink:Cell adipose microvascular endothelial cell Any microvascular endothelial cell that is part of a adipose tissue. hp.json http://purl.obolibrary.org/obo/CL_2000072 UBERON:0002317 biolink:AnatomicalEntity white matter of cerebellum Regional part of cerebellum consisting of the myelinated axons lying deep to the granule cell layer, excluding the deep cerebellar nuclei and the cerebellar peduncles. DMBA:16926|UMLS:C0152381|BAMS:cbw|TAO:0002183|EMAPA:35235|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=691|BAMS:CB-white|BIRNLEX:1562|FMA:83943|HBA:9288|NCIT:C49217|ZFA:0001708|MA:0002430|UMLS:C0152381 hp.json cerebellum white matter|cerebellar tracts/commissures|medullary substance of cerebellum|substantia centralis medullaris cerebelli|substantia medullaris cerebelli|cerebellar white matter http://purl.obolibrary.org/obo/UBERON_0002317 pheno_slim|vertebrate_core UBERON:0002316 biolink:AnatomicalEntity white matter Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. TAO:0002143|FMA:83929|NLX:412|TAO:0002142|VHOG:0001764|HBA:9218|OpenCyc:Mx4rwOAsDZwpEbGdrcN5Y29ycA|PBA:294022044|AEO:0001011|NLXANAT:101177|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2870|UMLS:C0682708|MESH:D066127|EMAPA:35927|MA:0001135|ZFA:0001682|Wikipedia:White_matter|TAO:0000145|NCIT:C33892|AEO:0000139 hp.json CNS white matter|CNS tract/commissure|white matter of neuraxis|substantia alba|white mater|substantia alba|neuronal white matter|white substance|CNS tracts and commissures http://purl.obolibrary.org/obo/UBERON_0002316 uberon_slim|vertebrate_core UBERON:0002319 biolink:AnatomicalEntity mesangium The inner layer of the glomerulus, within the basement membrane surrounding the glomerular capillaries. MA:0002617|EMAPA:36561|BTO:0002494|EMAPA:28248|FMA:84139|UMLS:C0017655|NCIT:C33101 hp.json http://purl.obolibrary.org/obo/UBERON_0002319 pheno_slim|human_reference_atlas|uberon_slim UBERON:0002318 biolink:AnatomicalEntity white matter of spinal cord The regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. SCTID:279436006|BAMS:SCwhite|MA:0000910|EMAPA:35795|FMA:83945|UMLS:C0458457|DHBA:146035088|NCIT:C33893 hp.json spinal cord white matter|spinal cord white matter of neuraxis|white matter of neuraxis of spinal cord|white substance of spinal cord|substantia alba medullae spinalis|spinal cord white substance http://purl.obolibrary.org/obo/UBERON_0002318 pheno_slim GO:0010721 biolink:BiologicalProcess negative regulation of cell development Any process that decreases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. hp.json http://purl.obolibrary.org/obo/GO_0010721 CL:2000074 biolink:Cell splenocyte Any leukocyte that is part of a spleen. hp.json http://purl.obolibrary.org/obo/CL_2000074 CL:2000073 biolink:Cell migratory cardiac neural crest cell Any migratory neural crest cell that is part of a cardiac neural crest. hp.json http://purl.obolibrary.org/obo/CL_2000073 UBERON:0004980 biolink:AnatomicalEntity mucosa of ureter A mucosa that is part of a ureter [Automatically generated definition]. FMA:15894|galen:MucousMembraneOfUreter hp.json ureteric mucosa|ureteral mucosa|mucosal layer of ureter|ureter mucosa of organ|ureter mucous membrane|ureter mucosa|mucosa of organ of ureter|ureter organ mucosa|tunica mucosa ureteris|mucous membrane of ureter|organ mucosa of ureter|tunica mucosa (ureter) http://purl.obolibrary.org/obo/UBERON_0004980 GO:0010720 biolink:BiologicalProcess positive regulation of cell development Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. hp.json http://purl.obolibrary.org/obo/GO_0010720 GO:0044106 biolink:BiologicalProcess cellular amine metabolic process The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. hp.json http://purl.obolibrary.org/obo/GO_0044106 UBERON:0004987 biolink:AnatomicalEntity mucosa of laryngopharynx A mucosa that is part of a hypopharynx [Automatically generated definition]. FMA:55030 hp.json laryngopharynx mucosa|laryngopharynx mucous membrane|laryngopharynx organ mucosa|mucous membrane of hypopharynx|organ mucosa of hypopharynx|hypopharynx mucosa of organ|mucosa of hypopharynx|mucosa of organ of laryngopharynx|laryngeal pharynx mucosa|laryngeal pharynx organ mucosa|organ mucosa of laryngeal pharynx|mucous membrane of laryngeal pharynx|laryngeal pharynx mucosa of organ|mucosa of organ of hypopharynx|hypopharynx mucous membrane|mucosa of laryngeal pharynx|organ mucosa of laryngopharynx|mucous membrane of laryngopharynx|hypopharynx mucosa|hypopharynx organ mucosa|laryngeal pharynx mucous membrane|mucosa of organ of laryngeal pharynx|laryngopharynx mucosa of organ http://purl.obolibrary.org/obo/UBERON_0004987 UBERON:0002324 biolink:AnatomicalEntity muscle of back Any muscle organ that is part of a back [Automatically generated definition]. MA:0000496|FMA:85216|EMAPA:35161 hp.json muscle organ of back|back muscle organ|back muscle http://purl.obolibrary.org/obo/UBERON_0002324 UBERON:0002323 biolink:AnatomicalEntity coelemic cavity lumen The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. SCTID:361348008|ZFA:0001438|FBbt:00005060|TAO:0001438|BTO:0001707|AEO:0000186|UMLS:C0333343|EHDAA2:0000267|FMA:85006|RETIRED_EHDAA2:0003186|NCIT:C25444|galen:BodyCavity hp.json celom|coelomic cavity|coelome|coelomic cavity lumen|hemocoel|main body cavity|coelom|space of body compartment|body cavity|ventral body cavity http://purl.obolibrary.org/obo/UBERON_0002323 uberon_slim|vertebrate_core UBERON:0004988 biolink:AnatomicalEntity mucosa of cystic duct A mucosa that is part of a cystic duct [Automatically generated definition]. FMA:14690 hp.json mucosa of organ of cystic duct|cystic duct mucous membrane|cystic duct mucosa|cystic duct organ mucosa|cystic ductal mucosa|organ mucosa of cystic duct|cystic duct mucosa of organ|mucous membrane of cystic duct http://purl.obolibrary.org/obo/UBERON_0004988 UBERON:0004985 biolink:AnatomicalEntity mucosa of ejaculatory duct A mucosa that is part of a ejaculatory duct [Automatically generated definition]. FMA:19373 hp.json ejaculatory duct mucosa of organ|ejaculatory duct mucous membrane|mucosa of organ of ejaculatory duct|mucous membrane of ejaculatory duct|organ mucosa of ejaculatory duct|ejaculatory duct mucosa|ejaculatory ductal mucosa|ejaculatory duct organ mucosa http://purl.obolibrary.org/obo/UBERON_0004985 UBERON:0002326 biolink:AnatomicalEntity lamina propria of urethra A lamina propria that is part of a urethra [Automatically generated definition]. FMA:85276|MA:0001689|EMAPA:37785 hp.json lamina propria mucosae of urethra|urethral lamina propria|urethra lamina propria mucosae|urethra lamina propria mucosa|urethra lamina propria|lamina propria mucosa of urethra http://purl.obolibrary.org/obo/UBERON_0002326 UBERON:0004986 biolink:AnatomicalEntity mucosa of deferent duct A mucosa that is part of a vas deferens [Automatically generated definition]. FMA:19240 hp.json vas deferen mucous membrane|mucosa of organ of vas deferen|sperm duct mucosa|vas deferens mucosa|sperm duct organ mucosa|vas deferens mucous membrane|vas deferens organ mucosa|sperm duct mucous membrane|deferent duct mucosa of organ|organ mucosa of deferent duct|mucous membrane of deferent duct|vas deferen mucosa|mucosa of organ of vas deferens|organ mucosa of ductus deferens|mucous membrane of ductus deferens|vas deferen organ mucosa|mucosa of organ of sperm duct|ductus deferens mucosa of organ|mucosa of ductus deferens|tunica mucosa (ductus deferens)|tunica mucosa ductus deferentis|mucosa of vas deferens|organ mucosa of vas deferens|deferent duct mucous membrane|ductus deferens mucosa|mucous membrane of vas deferens|mucosa of sperm duct|mucosa of organ of deferent duct|deferent duct mucosa|mucous membrane of vas deferen|organ mucosa of sperm duct|mucous membrane of sperm duct|mucosa of organ of ductus deferens|deferent ductal mucosa|ductus deferens organ mucosa|organ mucosa of vas deferen|vas deferen mucosa of organ|ductus deferens mucous membrane|mucosa of vas deferen|deferent duct organ mucosa|vas deferens mucosa of organ|sperm duct mucosa of organ http://purl.obolibrary.org/obo/UBERON_0004986 UBERON:0002325 biolink:AnatomicalEntity epithelium of urethra The urethra is a renal system organ that carries urine from the bladder to outside the body. The epithelium is the tubular, planar layer of cells through which the urine passes.. UMLS:C1710584|FMA:85275|EMAPA:31518|NCIT:C49309|MA:0001686 hp.json urethra epithelial tissue|urethral plate|urethral epithelium|urethra epithelium|urethral seam|epithelial tissue of urethra http://purl.obolibrary.org/obo/UBERON_0002325 UBERON:0004983 biolink:AnatomicalEntity mucosa of vagina A mucosa that is part of a vagina [Automatically generated definition]. FMA:19975|BTO:0005676 hp.json vagina mucosa|vagina organ mucosa|vagina mucous membrane|mucosa of organ of vagina|mucous membrane of vagina|organ mucosa of vagina|vaginal mucosa|vagina mucosa of organ|tunica mucosa vaginae http://purl.obolibrary.org/obo/UBERON_0004983 UBERON:0004984 biolink:AnatomicalEntity mucosa of seminal vesicle A mucosa that is part of a seminal vesicle [Automatically generated definition]. FMA:19405 hp.json seminal gland mucosa of organ|mucosa of organ of seminal vesicle|organ mucosa of seminal gland|mucous membrane of seminal gland|seminal vesicle mucous membrane|mucosa of seminal gland|seminal vesicle mucosa|seminal vesicle organ mucosa|mucosa of organ of seminal gland|seminal gland mucous membrane|mucous membrane of seminal vesicle|tunica mucosa glandulae vesiculosae|seminal vesicle mucosa of organ|organ mucosa of seminal vesicle|seminal gland mucosa|seminal gland organ mucosa http://purl.obolibrary.org/obo/UBERON_0004984 UBERON:0004982 biolink:AnatomicalEntity mucosa of epiglottis A mucosa that is part of a epiglottis [Automatically generated definition]. FMA:64015 hp.json mucous membrane of epiglottis|organ mucosa of epiglottis|epiglottis mucosa of organ|epiglottis mucosa|epiglottis organ mucosa|epiglottis mucous membrane|mucosa of organ of epiglottis http://purl.obolibrary.org/obo/UBERON_0004982 CL:2000061 biolink:Cell placental amniotic mesenchymal stromal cell Any mesenchymal stem cell that is part of a placenta. hp.json http://purl.obolibrary.org/obo/CL_2000061 CL:2000060 biolink:Cell placental villous trophoblast A trophoblast of placental villi. These cells fuse to form synctial trophoplast - the placental side of the interface between the placenta and maternal blood sinusoids in the decidua. BTO:0006208|BTO:0006119 hp.json vCTB|villous cytotrophoblast http://purl.obolibrary.org/obo/CL_2000060 UBERON:0002305 biolink:AnatomicalEntity layer of hippocampus The layers of the laminar structure of the hippocampus. BIRNLEX:1192|FMA:277842|MA:0002427|FMA:83679|EMAPA:35407 hp.json hippocampus proper layer|cytoarchitectural fields of hippocampal formation|hippocampus layer|layer of cornu ammonis http://purl.obolibrary.org/obo/UBERON_0002305 pheno_slim UBERON:0002308 biolink:AnatomicalEntity nucleus of brain A neural nucleus that is part of the brain. UMLS:C1706993|ZFA:0005575|FMA:83840|NCIT:C49346|MA:0000811|EMAPA:35185|SCTID:426465002 hp.json brain nucleus|brain nuclei http://purl.obolibrary.org/obo/UBERON_0002308 UBERON:0002307 biolink:AnatomicalEntity choroid plexus of lateral ventricle Part of choroid plexus contained in the lateral ventricle. HBA:9708|NCIT:C32309|EMAPA:17769|DHBA:10601|VHOG:0001376|ZFA:0001447|TAO:0001447|MA:0000961|BAMS:cplv|EHDAA2:0004449|FMA:83711|UMLS:C0152289|NLX:32548 hp.json chorioid plexus of lateral ventricle|chorioid plexus of cerebral hemisphere of lateral ventricle|lateral ventricle choroid plexus|lateral ventricle chorioid plexus of cerebral hemisphere|choroid plexus telencephalic ventricle http://purl.obolibrary.org/obo/UBERON_0002307 vertebrate_core PR:000021468 biolink:Protein sonic hedgehog protein proteolytic cleavage product A sonic hedgehog protein that has been processed by proteolytic cleavage. hp.json SHH/ClvPrd http://purl.obolibrary.org/obo/PR_000021468 CL:2000067 biolink:Cell cardiac atrium fibroblast Any fibroblast that is part of a cardiac atrium. hp.json http://purl.obolibrary.org/obo/CL_2000067 CL:2000066 biolink:Cell cardiac ventricle fibroblast Any fibroblast that is part of a cardiac ventricle. hp.json http://purl.obolibrary.org/obo/CL_2000066 CL:2000068 biolink:Cell pericardium fibroblast Any fibroblast that is part of a pericardium. hp.json http://purl.obolibrary.org/obo/CL_2000068 CL:2000063 biolink:Cell ovarian fibroblast Any fibroblast that is part of a female gonad. hp.json http://purl.obolibrary.org/obo/CL_2000063 CL:2000062 biolink:Cell placental villus capillary endothelial cell Any capillary endothelial cell that is part of a placenta. hp.json http://purl.obolibrary.org/obo/CL_2000062 CL:2000064 biolink:Cell ovarian surface epithelial cell Any epithelial cell that is part of a female gonad. hp.json http://purl.obolibrary.org/obo/CL_2000064 GO:0009743 biolink:BiologicalProcess response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. hp.json response to carbohydrate stimulus http://purl.obolibrary.org/obo/GO_0009743 GO:0071711 biolink:BiologicalProcess basement membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the basement membrane. hp.json basement membrane organisation http://purl.obolibrary.org/obo/GO_0071711 UBERON:0002315 biolink:AnatomicalEntity gray matter of spinal cord The ridge-shaped grey matter of the spinal cord that extends longitudunally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue. NLXANAT:100204|BAMS:Scgrey|DHBA:146035048|EMAPA:35792|UMLS:C0475853|MA:0000002|SCTID:279441003|NCIT:C32696|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2619|FMA:256580 hp.json grey matter of spinal cord|spinal cord grey matter|spinal cord gray matter|spinal cord grey substance|gray substance of spinal cord|substantia grisea medullae spinalis|gray matter of spinal cord|grey substance of spinal cord http://purl.obolibrary.org/obo/UBERON_0002315 pheno_slim PR:O14841 biolink:Protein 5-oxoprolinase (human) A 5-oxoprolinase that is encoded in the genome of human. Reactome:R-HSA-1247948|UniProtKB:O14841 hp.json 5-OPase (human)|OPLAH|hOPLAH|5-oxo-L-prolinase (human)|pyroglutamase (human) http://purl.obolibrary.org/obo/PR_O14841 CL:2000091 biolink:Cell endometrial microvascular endothelial cells Any microvascular endothelial cell that is part of a endometrial blood vessel. hp.json http://purl.obolibrary.org/obo/CL_2000091 CHEBI:47788 biolink:ChemicalSubstance 3-oxo steroid Any oxo steroid where an oxo substituent is located at position 3. PMID:9811880|KEGG:C01876|MetaCyc:3-Oxosteroids hp.json 3-Oxosteroid|3-oxosteroids|a 3-oxosteroid|3-oxo steroids http://purl.obolibrary.org/obo/CHEBI_47788 3_STAR GO:0010701 biolink:BiologicalProcess positive regulation of norepinephrine secretion Any process that increases the frequency, rate or extent of the regulated release of norepinephrine. hp.json http://purl.obolibrary.org/obo/GO_0010701 UBERON:0016943 biolink:AnatomicalEntity lower premolar tooth hp.json mandibular premolar tooth|lower premolar tooth|LP http://purl.obolibrary.org/obo/UBERON_0016943 UBERON:0016944 biolink:AnatomicalEntity upper premolar tooth hp.json UP|upper premolar tooth|maxillary premolar tooth http://purl.obolibrary.org/obo/UBERON_0016944 GO:0010700 biolink:BiologicalProcess negative regulation of norepinephrine secretion Any process that decreases the frequency, rate or extent of the regulated release of norepinephrine. hp.json http://purl.obolibrary.org/obo/GO_0010700 GO:0046785 biolink:BiologicalProcess microtubule polymerization The addition of tubulin heterodimers to one or both ends of a microtubule. hp.json microtubule assembly|microtubule formation http://purl.obolibrary.org/obo/GO_0046785 NCBITaxon:142796 biolink:OrganismalEntity Eumycetozoa PMID:11062127|PMID:9342353|GC_ID:1 hp.json mycetozoans|Mycetozoa|Eumycetozoa Zopf, 1884 http://purl.obolibrary.org/obo/NCBITaxon_142796 GO:0071746 biolink:CellularComponent IgA immunoglobulin complex, circulating A protein complex composed of two identical immunoglobulin heavy chains of an IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, sometimes complexed with J chain or J chain and secretory component, and present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json IgA antibody|IgA1 antibody|IgA2 antibody http://purl.obolibrary.org/obo/GO_0071746 GO:0009712 biolink:BiologicalProcess catechol-containing compound metabolic process The chemical reactions and pathways involving a compound containing a pyrocatechol (1,2-benzenediol) nucleus or substituent. hp.json catechol metabolic process|catechol metabolism http://purl.obolibrary.org/obo/GO_0009712 UBERON:0002302 biolink:AnatomicalEntity myocardium of atrium The atrial part of middle layer of the heart, comprised of involuntary muscle. TAO:0001374|FMA:83509|MA:0000081|EFO:0003087|EMAPA:32746|ZFA:0001374|SCTID:191910002|VHOG:0000602 hp.json atrial myocardium|atrium myocardium|atrium cardiac muscle http://purl.obolibrary.org/obo/UBERON_0002302 efo_slim|vertebrate_core|pheno_slim GO:0071745 biolink:CellularComponent IgA immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json IgA1 antibody|IgA2 antibody http://purl.obolibrary.org/obo/GO_0071745 UBERON:0002301 biolink:AnatomicalEntity layer of neocortex One of the layers of the neocortex. These layers are defined by distinctive populations of cells based on somata size, shape, or density, that are aligned into sheets. ABA:CTX1-6b|EMAPA:35588|FMA:83138|MA:0000186 hp.json layer of neocortex|cerebral cortex layer|neocortex layer|lamina of neocortex|cortical layer http://purl.obolibrary.org/obo/UBERON_0002301 GO:0009713 biolink:BiologicalProcess catechol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent. hp.json catechol formation|catechol biosynthesis|catechol biosynthetic process|catechol anabolism|catechol synthesis http://purl.obolibrary.org/obo/GO_0009713 GO:0071743 biolink:CellularComponent IgE immunoglobulin complex, circulating A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json IgE antibody http://purl.obolibrary.org/obo/GO_0071743 UBERON:0002304 biolink:AnatomicalEntity layer of dentate gyrus One of the three layers of the dentate gyrus of the hippocampal formation. MA:0002429|EMAPA:35278|FMA:83678 hp.json dentate gyrus layer|dentate gyrus cell layer http://purl.obolibrary.org/obo/UBERON_0002304 GO:0071742 biolink:CellularComponent IgE immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json http://purl.obolibrary.org/obo/GO_0071742 GO:0009719 biolink:BiologicalProcess response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. hp.json http://purl.obolibrary.org/obo/GO_0009719 gocheck_do_not_manually_annotate|goslim_plant CHEBI:47773 biolink:ChemicalSubstance very-low-density lipoprotein cholesterol Cholesterol esters and free cholesterol which are contained in or bound to very low density lipoproteins (VLDL). hp.json VLDL-C|pre-beta-lipoprotein cholesterol|VLDL cholesterol http://purl.obolibrary.org/obo/CHEBI_47773 3_STAR CL:2000081 biolink:Cell melanocyte of skin of face Any melanocyte of skin that is part of a skin of face. hp.json http://purl.obolibrary.org/obo/CL_2000081 CHEBI:47774 biolink:ChemicalSubstance low-density lipoprotein cholesterol Cholesterol esters and free cholesterol which are contained in or bound to low-density lipoproteins (LDL). hp.json beta-lipoprotein cholesterol|LDL cholesterol|LDL-C http://purl.obolibrary.org/obo/CHEBI_47774 3_STAR CL:2000080 biolink:Cell mesenchymal stem cell of abdominal adipose tissue Any mesenchymal stem cell of adipose tissue that is part of an abdomen. hp.json mesenchymal stem cell of abdominal adipose http://purl.obolibrary.org/obo/CL_2000080 CHEBI:47775 biolink:ChemicalSubstance high-density lipoprotein cholesterol Cholesterol esters and free cholesterol which are contained in or bound to high-density lipoproteins (HDL). hp.json HDL-C|alpha-lipoprotein cholesterol|HDL cholesterol http://purl.obolibrary.org/obo/CHEBI_47775 3_STAR GO:0010718 biolink:BiologicalProcess positive regulation of epithelial to mesenchymal transition Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. hp.json http://purl.obolibrary.org/obo/GO_0010718 GO:0010719 biolink:BiologicalProcess negative regulation of epithelial to mesenchymal transition Any process that decreases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. hp.json http://purl.obolibrary.org/obo/GO_0010719 CHEBI:47778 biolink:ChemicalSubstance glyceride Any ester resulting from the condensation of one or more of the hydroxy groups of glycerol (propane-1,2,3-triol) with fatty acids. hp.json glycerides|glycerides|acylglycerols|glyceride http://purl.obolibrary.org/obo/CHEBI_47778 3_STAR UBERON:0004945 biolink:AnatomicalEntity submucosa of neck of urinary bladder A submucosa that is part of a neck of urinary bladder [Automatically generated definition]. EMAPA:32276|FMA:17851 hp.json vesical neck submucosa|urinary bladder neck submucosa|submucosa of bladder neck|neck of urinary bladder submucosa|submucosa of neck of bladder|submucosa of vesical neck|submucosa of urinary bladder neck|neck of bladder submucosa|bladder neck submucosa http://purl.obolibrary.org/obo/UBERON_0004945 UBERON:0004946 biolink:AnatomicalEntity submucosa of ileum A submucosa that is part of a ileum [Automatically generated definition]. FMA:14957 hp.json ileal submucosa|ileum submucosa http://purl.obolibrary.org/obo/UBERON_0004946 human_reference_atlas GO:0010712 biolink:BiologicalProcess regulation of collagen metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the metabolism of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. hp.json regulation of collagen metabolism http://purl.obolibrary.org/obo/GO_0010712 GO:0010713 biolink:BiologicalProcess negative regulation of collagen metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the metabolism of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. hp.json http://purl.obolibrary.org/obo/GO_0010713 GO:0010716 biolink:BiologicalProcess negative regulation of extracellular matrix disassembly Any process that decreases the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix. hp.json down regulation of extracellular matrix disassembly|inhibition of extracellular matrix disassembly|negative regulation of extracellular matrix degradation|down-regulation of extracellular matrix disassembly|negative regulation of extracellular matrix breakdown|downregulation of extracellular matrix disassembly http://purl.obolibrary.org/obo/GO_0010716 GO:0010717 biolink:BiologicalProcess regulation of epithelial to mesenchymal transition Any process that modulates the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. hp.json http://purl.obolibrary.org/obo/GO_0010717 GO:0010714 biolink:BiologicalProcess positive regulation of collagen metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the metabolism of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. hp.json positive regulation of collagen metabolism http://purl.obolibrary.org/obo/GO_0010714 GO:0010715 biolink:BiologicalProcess regulation of extracellular matrix disassembly Any process that modulates the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix. hp.json regulation of extracellular matrix breakdown|regulation of extracellular matrix degradation http://purl.obolibrary.org/obo/GO_0010715 UBERON:0016928 biolink:AnatomicalEntity metaphysis of fibula A metaphysis that is part of a fibula. FMA:33745 hp.json fibular metaphysis|fibula metaphysis http://purl.obolibrary.org/obo/UBERON_0016928 GO:0071739 biolink:CellularComponent IgD immunoglobulin complex, circulating A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json IgD antibody http://purl.obolibrary.org/obo/GO_0071739 GO:0071738 biolink:CellularComponent IgD immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json http://purl.obolibrary.org/obo/GO_0071738 GO:0071736 biolink:CellularComponent IgG immunoglobulin complex, circulating A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json IgG2a antibody|IgG1 antibody|IgG2 antibody|IgG2b antibody|IgG antibody|IgG2c antibody|IgG3 antibody|IgG4 antibody http://purl.obolibrary.org/obo/GO_0071736 GO:0071735 biolink:CellularComponent IgG immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json IgG4|IgG2c|IgG3|IgG2b|IgG2|IgG2a|IgG1 http://purl.obolibrary.org/obo/GO_0071735 GO:0009725 biolink:BiologicalProcess response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. hp.json response to hormone stimulus|growth regulator http://purl.obolibrary.org/obo/GO_0009725 UBERON:0004952 biolink:AnatomicalEntity submucosa of bronchiole A submucosa that is part of a bronchiole [Automatically generated definition]. FMA:62775 hp.json submucosa of lobular bronchiole|bronchiole submucosa|lobular bronchiole submucosa http://purl.obolibrary.org/obo/UBERON_0004952 HP:0041226 biolink:PhenotypicFeature Fractured distal tarsal bone A partial or complete breakage of the distal tarsal bone. hp.json bone distal tarsal bone http://purl.obolibrary.org/obo/HP_0041226 HP:0041227 biolink:PhenotypicFeature Fractured distal tarsal bone 2 A partial or complete breakage of the distal tarsal bone 2. hp.json bone distal tarsal bone 2 http://purl.obolibrary.org/obo/HP_0041227 HP:0041224 biolink:PhenotypicFeature Fractured manual digit bone A partial or complete breakage of the manual digit bone. hp.json bone manual digit bone http://purl.obolibrary.org/obo/HP_0041224 HP:0041225 biolink:PhenotypicFeature Fractured metacarpal bone of digit 1 A partial or complete breakage of the metacarpal bone of digit 1. hp.json bone metacarpal bone of digit 1 http://purl.obolibrary.org/obo/HP_0041225 HP:0004280 biolink:PhenotypicFeature Irregular ossification of hand bones UMLS:C4025374 hp.json Irregular maturation of hand bones http://purl.obolibrary.org/obo/HP_0004280 HP:0041228 biolink:PhenotypicFeature Fractured distal tarsal bone 3 A partial or complete breakage of the distal tarsal bone 3. hp.json bone distal tarsal bone 3 http://purl.obolibrary.org/obo/HP_0041228 PATO:0000763 biolink:NamedThing paralysed A behavioral quality inhering in a bearer by virtue of the bearer's being affected by loss of the ability to move a body part. hp.json palsy http://purl.obolibrary.org/obo/PATO_0000763 value_slim HP:0004279 biolink:PhenotypicFeature Short palm Short palm. UMLS:C1843108 hp.json Short hands|Hypoplastic hands|Short palm|Short palms http://purl.obolibrary.org/obo/HP_0004279 HP:0004278 biolink:PhenotypicFeature Synostosis involving bones of the hand An abnormal union between bones or parts of bones of the hand. UMLS:C4020831 hp.json Fused hand bones http://purl.obolibrary.org/obo/HP_0004278 PATO:0000761 biolink:NamedThing decreased behavioural activity A behavioral quality of a process inhering in a bearer by virtue of the bearer's exhibiting reduced activity. hp.json hypoactive http://purl.obolibrary.org/obo/PATO_0000761 value_slim PATO:0000760 biolink:NamedThing increased behavioural activity A behavioral quality of a process inhering in a bearer by virtue of the bearer's exhibiting increased activity. hp.json hyperactive http://purl.obolibrary.org/obo/PATO_0000760 value_slim HP:0004273 biolink:PhenotypicFeature Cupped metaphyses of hand bones UMLS:C4025377 hp.json Cupped metaphysis of hand bones|Cupped wide portion of hand bones http://purl.obolibrary.org/obo/HP_0004273 HP:0004272 biolink:PhenotypicFeature Cortical thinning of hand bones UMLS:C4025378 hp.json http://purl.obolibrary.org/obo/HP_0004272 NBO:0000100 biolink:NamedThing exploration behavior hp.json http://purl.obolibrary.org/obo/NBO_0000100 HP:0004271 biolink:PhenotypicFeature Cortical thickening of hand bones UMLS:C4025379 hp.json http://purl.obolibrary.org/obo/HP_0004271 HP:0004277 biolink:PhenotypicFeature Fractured hand bones UMLS:C0435632|SNOMEDCT_US:20511007 hp.json Broken hand bones|Fractured hand bones http://purl.obolibrary.org/obo/HP_0004277 HP:0041222 biolink:PhenotypicFeature Fractured fibula A partial or complete breakage of the fibula. hp.json Fibula fracture|bone fibula|Broken fibula|Fracture of the fibula http://purl.obolibrary.org/obo/HP_0041222 HP:0004276 biolink:PhenotypicFeature Exostoses of hand bones Abnormal formation of new bone on the surface of a bone of the hand. UMLS:C4025375 hp.json http://purl.obolibrary.org/obo/HP_0004276 HP:0041223 biolink:PhenotypicFeature Fractured metatarsal bone of digit 5 A partial or complete breakage of the metatarsal bone of digit 5. hp.json bone metatarsal bone of digit 5 http://purl.obolibrary.org/obo/HP_0041223 HP:0041220 biolink:PhenotypicFeature Fractured facial bone A partial or complete breakage of the facial bone. hp.json bone facial bone http://purl.obolibrary.org/obo/HP_0041220 HP:0004275 biolink:PhenotypicFeature Duplication of hand bones UMLS:C3276746 hp.json Duplication of hand bones http://purl.obolibrary.org/obo/HP_0004275 HP:0004274 biolink:PhenotypicFeature Deficient ossification of hand bones UMLS:C4025376|UMLS:C4280534 hp.json Deficient maturation of hand bones http://purl.obolibrary.org/obo/HP_0004274 HP:0041221 biolink:PhenotypicFeature Fractured head of femur A partial or complete breakage of the head of femur. hp.json bone head of femur http://purl.obolibrary.org/obo/HP_0041221 HP:0041237 biolink:PhenotypicFeature Fractured patella A partial or complete breakage of the patella. hp.json bone patella http://purl.obolibrary.org/obo/HP_0041237 HP:0041235 biolink:PhenotypicFeature Fractured hindlimb bone A partial or complete breakage of the hindlimb bone. hp.json bone hindlimb bone http://purl.obolibrary.org/obo/HP_0041235 HP:0041236 biolink:PhenotypicFeature Fractured middle phalanx of manus A partial or complete breakage of the middle phalanx of manus. hp.json bone middle phalanx of manus http://purl.obolibrary.org/obo/HP_0041236 HP:0004291 biolink:PhenotypicFeature Stippled calcification of hand bones UMLS:C4025365 hp.json http://purl.obolibrary.org/obo/HP_0004291 HP:0004290 biolink:PhenotypicFeature Sclerosis of hand bones with transverse striations UMLS:C4025366 hp.json http://purl.obolibrary.org/obo/HP_0004290 HP:0041239 biolink:PhenotypicFeature Fractured manual digit 1 phalanx A partial or complete breakage of the manual digit 1 phalanx. hp.json bone manual digit 1 phalanx http://purl.obolibrary.org/obo/HP_0041239 HP:0004289 biolink:PhenotypicFeature Sclerotic foci in hand bones UMLS:C4025367 hp.json http://purl.obolibrary.org/obo/HP_0004289 HP:0004284 biolink:PhenotypicFeature Notched hand bones UMLS:C4025372 hp.json Notched hand bones http://purl.obolibrary.org/obo/HP_0004284 HP:0004283 biolink:PhenotypicFeature Narrow palm For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. UMLS:C1857632 hp.json Narrow palm|Narrow hands|Narrow hand http://purl.obolibrary.org/obo/HP_0004283 HP:0041230 biolink:PhenotypicFeature Fractured metatarsal bone of digit 4 A partial or complete breakage of the metatarsal bone of digit 4. hp.json bone metatarsal bone of digit 4 http://purl.obolibrary.org/obo/HP_0041230 HP:0004281 biolink:PhenotypicFeature Irregular sclerosis of hand bones UMLS:C4025373 hp.json http://purl.obolibrary.org/obo/HP_0004281 HP:0004288 biolink:PhenotypicFeature Pseudoepiphyses of hand bones UMLS:C4025368 hp.json http://purl.obolibrary.org/obo/HP_0004288 HP:0041233 biolink:PhenotypicFeature Fractured ilium A partial or complete breakage of the ilium. hp.json bone ilium http://purl.obolibrary.org/obo/HP_0041233 HP:0004287 biolink:PhenotypicFeature Pointed hand bones UMLS:C4025369 hp.json Pointed hand bones http://purl.obolibrary.org/obo/HP_0004287 HP:0041234 biolink:PhenotypicFeature Fractured bone of jaw A partial or complete breakage of the bone of jaw. hp.json bone bone of jaw http://purl.obolibrary.org/obo/HP_0041234 HP:0041231 biolink:PhenotypicFeature Fractured metatarsal bone of digit 1 A partial or complete breakage of the metatarsal bone of digit 1. hp.json bone metatarsal bone of digit 1 http://purl.obolibrary.org/obo/HP_0041231 HP:0004286 biolink:PhenotypicFeature Patchy sclerosis of hand bones UMLS:C4025370 hp.json Uneven increase in bone density in hand bones http://purl.obolibrary.org/obo/HP_0004286 HP:0041232 biolink:PhenotypicFeature obsolete Fractured skeleton of manual acropodium hp.json http://purl.obolibrary.org/obo/HP_0041232 HP:0004285 biolink:PhenotypicFeature Overmodelled hand bones UMLS:C4025371 hp.json http://purl.obolibrary.org/obo/HP_0004285 HP:0041248 biolink:PhenotypicFeature Fractured carpal bone A partial or complete breakage of the carpal bone. hp.json Carpal bone fracture|Broken wrist|Wrist fracture|bone carpal bone|Fractured wrist http://purl.obolibrary.org/obo/HP_0041248 HP:0041249 biolink:PhenotypicFeature Fractured nose A partial or complete breakage of the nose. hp.json bone nose http://purl.obolibrary.org/obo/HP_0041249 HP:0041246 biolink:PhenotypicFeature Fractured sternum A partial or complete breakage of the sternum. hp.json bone sternum http://purl.obolibrary.org/obo/HP_0041246 HP:0041247 biolink:PhenotypicFeature Fractured tarsal bone A partial or complete breakage of the tarsal bone. hp.json bone tarsal bone http://purl.obolibrary.org/obo/HP_0041247 CHEBI:84729 biolink:ChemicalSubstance hydroxyindoles Any member of the class of indoles carrying at least one hydroxy group. hp.json http://purl.obolibrary.org/obo/CHEBI_84729 3_STAR HP:0004259 biolink:PhenotypicFeature Abnormality of the hamate bone UMLS:C4025386 hp.json http://purl.obolibrary.org/obo/HP_0004259 HP:0004258 biolink:PhenotypicFeature Small trapezoid bone Underdevelopment of the trapezoid. UMLS:C4025387 hp.json http://purl.obolibrary.org/obo/HP_0004258 HP:0004257 biolink:PhenotypicFeature Delayed ossification of the trapezoid bone Formation of bone tissue of trapezoid is less than expected for age. UMLS:C4021668 hp.json Delayed maturation of the trapezoid bone http://purl.obolibrary.org/obo/HP_0004257 HP:0004256 biolink:PhenotypicFeature Abnormality of the trapezoid bone UMLS:C4025388 hp.json http://purl.obolibrary.org/obo/HP_0004256 HP:0004251 biolink:PhenotypicFeature Lunate-triquetral fusion Osseous fusion of the lunate and triquetrum. UMLS:C1867930 hp.json Lunotriquetral synostosis http://purl.obolibrary.org/obo/HP_0004251 HP:0041240 biolink:PhenotypicFeature Fractured phalanx of pes A partial or complete breakage of the phalanx of pes. hp.json bone phalanx of pes http://purl.obolibrary.org/obo/HP_0041240 HP:0041241 biolink:PhenotypicFeature Fractured phalanx of manus A partial or complete breakage of the phalanx of manus. hp.json bone phalanx of manus http://purl.obolibrary.org/obo/HP_0041241 HP:0004250 biolink:PhenotypicFeature Proximally placed lunate UMLS:C4025391 hp.json http://purl.obolibrary.org/obo/HP_0004250 HP:0004255 biolink:PhenotypicFeature Small trapezium Underdevelopment of the trapezium. UMLS:C4025389 hp.json http://purl.obolibrary.org/obo/HP_0004255 HP:0041244 biolink:PhenotypicFeature Fractured scapula A partial or complete breakage of the scapula. hp.json bone scapula http://purl.obolibrary.org/obo/HP_0041244 HP:0041245 biolink:PhenotypicFeature Fractured shoulder bone A partial or complete breakage of the shoulder bone. hp.json bone shoulder bone http://purl.obolibrary.org/obo/HP_0041245 HP:0004254 biolink:PhenotypicFeature Delayed ossification of the trapezium Formation of bone tissue of trapezium is less than expected for age. UMLS:C4021669 hp.json Delayed maturation of the trapezium http://purl.obolibrary.org/obo/HP_0004254 HP:0004253 biolink:PhenotypicFeature Absent trapezium UMLS:C1847190 hp.json Absent trapezium bone http://purl.obolibrary.org/obo/HP_0004253 HP:0041243 biolink:PhenotypicFeature Fractured proximal phalanx of manus A partial or complete breakage of the proximal phalanx of manus. hp.json bone proximal phalanx of manus http://purl.obolibrary.org/obo/HP_0041243 HP:0004252 biolink:PhenotypicFeature Abnormality of the trapezium An anomaly of trapezium. UMLS:C4025390 hp.json http://purl.obolibrary.org/obo/HP_0004252 GO:0019172 biolink:MolecularActivity glyoxalase III activity Catalysis of the reaction: methylglyoxal + H2O = D-lactate. EC:4.2.1.130|RHEA:27754|MetaCyc:GLYOXIII-RXN hp.json (R)-lactate hydro-lyase|D-lactate dehydratase|glutathione-independent glyoxalase activity http://purl.obolibrary.org/obo/GO_0019172 CHEBI:84735 biolink:ChemicalSubstance algal metabolite Any eukaryotic metabolite produced during a metabolic reaction in algae including unicellular organisms like chlorella and diatoms to multicellular organisms like giant kelps and brown algae. hp.json algal metabolites http://purl.obolibrary.org/obo/CHEBI_84735 3_STAR GO:0007186 biolink:BiologicalProcess G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. hp.json G protein coupled receptor protein signalling pathway|dimeric G-protein coupled receptor signaling pathway|G-protein coupled receptor signaling pathway via GPCR dimer|G protein coupled receptor protein signaling pathway|G-protein coupled receptor protein signal transduction|G-protein coupled receptor protein signaling pathway|GPCR signalling pathway|dimeric G-protein coupled receptor signalling pathway|G-protein-coupled receptor protein signalling pathway|G-protein coupled receptor signalling pathway|GPCR signaling pathway http://purl.obolibrary.org/obo/GO_0007186 goslim_drosophila HP:0004269 biolink:PhenotypicFeature Subluxation of the small joints of the hand A partial dislocation of some or all of the small joints of the hand. UMLS:C4025380 hp.json Partial dislocation of small joints of hand http://purl.obolibrary.org/obo/HP_0004269 HP:0004268 biolink:PhenotypicFeature Osteoarthritis of the small joints of the hand UMLS:C4025381 hp.json http://purl.obolibrary.org/obo/HP_0004268 HP:0004267 biolink:PhenotypicFeature Narrow small joints of the hand UMLS:C4025382 hp.json Narrow small joints of the hand http://purl.obolibrary.org/obo/HP_0004267 HP:0004262 biolink:PhenotypicFeature Abnormality of the capitate bone UMLS:C4025384 hp.json http://purl.obolibrary.org/obo/HP_0004262 HP:0004261 biolink:PhenotypicFeature Wide hamate bone UMLS:C4021667 hp.json Wide unciform bone|Broad hamate bone http://purl.obolibrary.org/obo/HP_0004261 HP:0004260 biolink:PhenotypicFeature Large hamate bone UMLS:C4025385 hp.json Large unciform bone http://purl.obolibrary.org/obo/HP_0004260 HP:0004264 biolink:PhenotypicFeature Narrow carpal joint spaces UMLS:C4021666 hp.json Decreased carpal joint angles http://purl.obolibrary.org/obo/HP_0004264 HP:0004263 biolink:PhenotypicFeature Large capitate bone UMLS:C4025383 hp.json http://purl.obolibrary.org/obo/HP_0004263 GO:0007159 biolink:BiologicalProcess leukocyte cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. hp.json leukocyte adhesion|leukocyte cell adhesion http://purl.obolibrary.org/obo/GO_0007159 HP:0031860 biolink:PhenotypicFeature Abnormal heart rate variability Any abnormality in the variability of the time interval between successive heartbeats. hp.json http://purl.obolibrary.org/obo/HP_0031860 HP:0031861 biolink:PhenotypicFeature Decreased heart rate variability Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. hp.json Reduced heart rate variability http://purl.obolibrary.org/obo/HP_0031861 HP:0031862 biolink:PhenotypicFeature Increased heart rate variability Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. hp.json http://purl.obolibrary.org/obo/HP_0031862 GO:0007155 biolink:BiologicalProcess cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. Wikipedia:Cell_adhesion hp.json single organism cell adhesion|cell adhesion molecule activity http://purl.obolibrary.org/obo/GO_0007155 goslim_candida|goslim_generic|prokaryote_subset|goslim_pombe|goslim_pir|goslim_drosophila|goslim_aspergillus|goslim_chembl|goslim_metagenomics GO:0007154 biolink:BiologicalProcess cell communication Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. Wikipedia:Cell_signaling hp.json http://purl.obolibrary.org/obo/GO_0007154 goslim_plant|goslim_pir HP:0031867 biolink:PhenotypicFeature Neck hypertonia Increased passive stiffness or tightness of the neck musculature. hp.json http://purl.obolibrary.org/obo/HP_0031867 GO:0007162 biolink:BiologicalProcess negative regulation of cell adhesion Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion. hp.json cell adhesion receptor inhibitor activity|down-regulation of cell adhesion|down regulation of cell adhesion|inhibition of cell adhesion|downregulation of cell adhesion http://purl.obolibrary.org/obo/GO_0007162 HP:0031868 biolink:PhenotypicFeature Optic ataxia Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected. hp.json http://purl.obolibrary.org/obo/HP_0031868 HP:0031869 biolink:PhenotypicFeature Recurrent joint dislocation Dislocation of a given joint repeated times. hp.json Recurrent joint dislocations http://purl.obolibrary.org/obo/HP_0031869 HP:0031863 biolink:PhenotypicFeature Bloodstream infectious agent The presence of an infectious agent in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0031863 HP:0031864 biolink:PhenotypicFeature Bacteremia Presence of viable bacteria in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031864 HP:0031865 biolink:PhenotypicFeature Abnormal liver physiology Any functional anomaly of the liver. hp.json Abnormal hepatic physiology http://purl.obolibrary.org/obo/HP_0031865 HP:0031866 biolink:PhenotypicFeature Clasp-knife sign Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife. hp.json http://purl.obolibrary.org/obo/HP_0031866 GO:0032109 biolink:BiologicalProcess positive regulation of response to nutrient levels Any process that activates or increases the frequency, rate or extent of a response to nutrient levels. hp.json up-regulation of response to nutrient levels|up regulation of response to nutrient levels|activation of response to nutrient levels|stimulation of response to nutrient levels|upregulation of response to nutrient levels http://purl.obolibrary.org/obo/GO_0032109 GO:0032108 biolink:BiologicalProcess negative regulation of response to nutrient levels Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels. hp.json downregulation of response to nutrient levels|inhibition of response to nutrient levels|down-regulation of response to nutrient levels|down regulation of response to nutrient levels http://purl.obolibrary.org/obo/GO_0032108 GO:0032107 biolink:BiologicalProcess regulation of response to nutrient levels Any process that modulates the frequency, rate or extent of a response to nutrient levels. hp.json http://purl.obolibrary.org/obo/GO_0032107 GO:0032106 biolink:BiologicalProcess positive regulation of response to extracellular stimulus Any process that activates, maintains or increases the rate of a response to an extracellular stimulus. hp.json stimulation of response to extracellular stimulus|up-regulation of response to extracellular stimulus|activation of response to extracellular stimulus|upregulation of response to extracellular stimulus|up regulation of response to extracellular stimulus http://purl.obolibrary.org/obo/GO_0032106 GO:0032105 biolink:BiologicalProcess negative regulation of response to extracellular stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus. hp.json downregulation of response to extracellular stimulus|down regulation of response to extracellular stimulus|inhibition of response to extracellular stimulus|down-regulation of response to extracellular stimulus http://purl.obolibrary.org/obo/GO_0032105 GO:0034767 biolink:BiologicalProcess positive regulation of ion transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. hp.json up-regulation of transmembrane ion transport|up regulation of transmembrane ion transport|activation of transmembrane ion transport|positive regulation of transmembrane ion transport|stimulation of transmembrane ion transport|positive regulation of ion membrane transport|upregulation of transmembrane ion transport http://purl.obolibrary.org/obo/GO_0034767 HP:0031870 biolink:PhenotypicFeature Phosphohydroxylysinuria An elevated concentration of phosphohydroxylysine in the urine. hp.json http://purl.obolibrary.org/obo/HP_0031870 HP:0031871 biolink:PhenotypicFeature Abnormal Langerhans cell morphology Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis. hp.json http://purl.obolibrary.org/obo/HP_0031871 GO:0034769 biolink:BiologicalProcess basement membrane disassembly The controlled breakdown of the basement membrane in the context of a normal process such as imaginal disc eversion. hp.json basal lamina disassembly http://purl.obolibrary.org/obo/GO_0034769 HP:0031872 biolink:PhenotypicFeature Absent Birbeck granules in Langerhans cells Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy. hp.json http://purl.obolibrary.org/obo/HP_0031872 HP:0031873 biolink:PhenotypicFeature Early chronotype A tendency towards rising very early in the morning and going to bed early in the evening. hp.json Early sleep onset http://purl.obolibrary.org/obo/HP_0031873 GO:0007166 biolink:BiologicalProcess cell surface receptor signaling pathway The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. hp.json cell surface receptor linked signalling pathway|cell surface receptor linked signal transduction|cell surface receptor linked signaling pathway http://purl.obolibrary.org/obo/GO_0007166 goslim_drosophila GO:0007165 biolink:BiologicalProcess signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. Wikipedia:Signal_transduction hp.json signal transduction by trans-phosphorylation|signalling cascade|signal transduction by protein phosphorylation|signaling cascade|signal transduction by conformational transition|signal transduction by cis-phosphorylation|signalling pathway|signaling pathway http://purl.obolibrary.org/obo/GO_0007165 goslim_plant|goslim_aspergillus|goslim_chembl|goslim_metagenomics|goslim_candida GO:0007163 biolink:BiologicalProcess establishment or maintenance of cell polarity Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. hp.json establishment and/or maintenance of cell polarity|cell polarity|establishment and/or maintenance of cell polarization http://purl.obolibrary.org/obo/GO_0007163 goslim_pombe|goslim_drosophila|goslim_generic HP:0031878 biolink:PhenotypicFeature Acromicria Small hands and feet in proportion to the rest of the body. hp.json http://purl.obolibrary.org/obo/HP_0031878 GO:0034760 biolink:BiologicalProcess negative regulation of iron ion transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. hp.json negative regulation of transmembrane iron ion transport|negative regulation of transmembrane iron transport|downregulation of transmembrane iron ion transport|down regulation of transmembrane iron ion transport|negative regulation of iron ion membrane transport|inhibition of transmembrane iron ion transport|down-regulation of transmembrane iron ion transport http://purl.obolibrary.org/obo/GO_0034760 HP:0031879 biolink:PhenotypicFeature Abnormal eyelid physiology Any functional abnormality of the eyelid. hp.json http://purl.obolibrary.org/obo/HP_0031879 GO:0034761 biolink:BiologicalProcess positive regulation of iron ion transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. hp.json up regulation of transmembrane iron ion transport|stimulation of transmembrane iron ion transport|positive regulation of transmembrane iron ion transport|up-regulation of transmembrane iron ion transport|positive regulation of iron ion membrane transport|activation of transmembrane iron ion transport|positive regulation of transmembrane iron transport|upregulation of transmembrane iron ion transport http://purl.obolibrary.org/obo/GO_0034761 GO:0034762 biolink:BiologicalProcess regulation of transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. hp.json regulation of membrane transport http://purl.obolibrary.org/obo/GO_0034762 HP:0031874 biolink:PhenotypicFeature Late chronotype A tendency towards rising very late in the morning and going to bed late at night. hp.json Late sleep onset http://purl.obolibrary.org/obo/HP_0031874 GO:0034763 biolink:BiologicalProcess negative regulation of transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. hp.json negative regulation of membrane transport|down-regulation of transmembrane transport|down regulation of transmembrane transport|downregulation of transmembrane transport|inhibition of transmembrane transport http://purl.obolibrary.org/obo/GO_0034763 GO:0034764 biolink:BiologicalProcess positive regulation of transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. hp.json activation of transmembrane transport|stimulation of transmembrane transport|upregulation of transmembrane transport|positive regulation of membrane transport|up-regulation of transmembrane transport|up regulation of transmembrane transport http://purl.obolibrary.org/obo/GO_0034764 HP:0031875 biolink:PhenotypicFeature Abnormal hepcidin level Any deviation from the normal concentration of hepcidin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0031875 HP:0031876 biolink:PhenotypicFeature Decreased hepcidin level An abnormally reduced concentration of hepcidin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0031876 GO:0034765 biolink:BiologicalProcess regulation of ion transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. hp.json regulation of ion membrane transport|regulation of transmembrane ion transport http://purl.obolibrary.org/obo/GO_0034765 GO:0034766 biolink:BiologicalProcess negative regulation of ion transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. hp.json down regulation of transmembrane ion transport|negative regulation of transmembrane ion transport|inhibition of transmembrane ion transport|downregulation of transmembrane ion transport|negative regulation of ion membrane transport|down-regulation of transmembrane ion transport http://purl.obolibrary.org/obo/GO_0034766 HP:0031877 biolink:PhenotypicFeature Elevated hepcidin level An abnormally increased concentration of hepcidin in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0031877 GO:0032104 biolink:BiologicalProcess regulation of response to extracellular stimulus Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus. hp.json http://purl.obolibrary.org/obo/GO_0032104 GO:0032103 biolink:BiologicalProcess positive regulation of response to external stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. hp.json stimulation of response to external stimulus|upregulation of response to external stimulus|up-regulation of response to external stimulus|up regulation of response to external stimulus|activation of response to external stimulus http://purl.obolibrary.org/obo/GO_0032103 gocheck_do_not_manually_annotate GO:0032102 biolink:BiologicalProcess negative regulation of response to external stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus. hp.json down-regulation of response to external stimulus|down regulation of response to external stimulus|inhibition of response to external stimulus|downregulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0032102 gocheck_do_not_manually_annotate GO:0032101 biolink:BiologicalProcess regulation of response to external stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0032101 gocheck_do_not_manually_annotate NBO:0000119 biolink:NamedThing impulsive behavior "A behavior that occur quickly without control, planning, or consideration of the consequences of that behavior." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000119 HP:0041209 biolink:PhenotypicFeature Fractured epiphysis of middle phalanx of manus A partial or complete breakage of the epiphysis of middle phalanx of manus. hp.json bone epiphysis of middle phalanx of manus http://purl.obolibrary.org/obo/HP_0041209 GO:0034756 biolink:BiologicalProcess regulation of iron ion transport Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json regulation of Fe transport|regulation of iron ion import|regulation of iron transport|regulation of iron import http://purl.obolibrary.org/obo/GO_0034756 HP:0031881 biolink:PhenotypicFeature Decreased tear drainage A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct. hp.json http://purl.obolibrary.org/obo/HP_0031881 GO:0034757 biolink:BiologicalProcess negative regulation of iron ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json downregulation of iron ion transport|down regulation of iron ion transport|inhibition of iron ion transport|down-regulation of iron ion transport|negative regulation of iron transport http://purl.obolibrary.org/obo/GO_0034757 HP:0031882 biolink:PhenotypicFeature Agyria A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm. hp.json Agyria diffuse http://purl.obolibrary.org/obo/HP_0031882 HP:0031883 biolink:PhenotypicFeature Increased proinsulin:insulin ratio An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation. hp.json http://purl.obolibrary.org/obo/HP_0031883 GO:0034758 biolink:BiologicalProcess positive regulation of iron ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json up-regulation of iron ion transport|activation of iron ion transport|positive regulation of iron transport|upregulation of iron ion transport|up regulation of iron ion transport|stimulation of iron ion transport http://purl.obolibrary.org/obo/GO_0034758 HP:0031884 biolink:PhenotypicFeature Abnormal CSF glucose concentration A deviation from normal concentration of glucose content in the cerebrospinal fluid. hp.json Abnormal CSF glucose level http://purl.obolibrary.org/obo/HP_0031884 GO:0034759 biolink:BiologicalProcess regulation of iron ion transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) from one side of a membrane to the other by means of some agent such as a transporter or pore. hp.json regulation of transmembrane iron ion transport|regulation of iron ion membrane transport|regulation of transmembrane iron transport|regulation of transmembrane Fe transport http://purl.obolibrary.org/obo/GO_0034759 HP:0031880 biolink:PhenotypicFeature Eyelid laxity Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test. hp.json Lid laxity http://purl.obolibrary.org/obo/HP_0031880 GO:0009792 biolink:BiologicalProcess embryo development ending in birth or egg hatching The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. hp.json embryogenesis http://purl.obolibrary.org/obo/GO_0009792 HP:0031889 biolink:PhenotypicFeature Abnormal VLDL cholesterol concentration Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031889 GO:0007140 biolink:NamedThing male meiotic nuclear division hp.json http://purl.obolibrary.org/obo/GO_0007140 HP:0031885 biolink:PhenotypicFeature Hyperglycorrhachia Abnormally high glucose concentration in the cerebrospinal fluid. hp.json Increased CSF glucose http://purl.obolibrary.org/obo/HP_0031885 HP:0031886 biolink:PhenotypicFeature Abnormal LDL cholesterol concentration Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. hp.json Abnormal LDLc concentration|Abnormal LDL-C concentration|Abnormal LDL-C level http://purl.obolibrary.org/obo/HP_0031886 HP:0031887 biolink:PhenotypicFeature Abnormal chylomicron concentration Any deviation from the normal circulating concentration of chylomicrons. hp.json http://purl.obolibrary.org/obo/HP_0031887 GO:0034754 biolink:NamedThing cellular hormone metabolic process hp.json http://purl.obolibrary.org/obo/GO_0034754 GO:0034755 biolink:BiologicalProcess iron ion transmembrane transport A process in which an iron ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. hp.json high-affinity iron ion transport|iron ion membrane transport|low affinity iron ion transport|iron(2+) transmembrane transport|high affinity iron ion transport|low-affinity iron ion transmembrane transport|high-affinity iron ion transmembrane transport|high affinity ferrous ion transmembrane transport|transmembrane iron transport|ferrous iron transmembrane transport|high-affinity ferrous ion transmembrane transport|ferrous ion transmembrane transport|low-affinity iron ion transport http://purl.obolibrary.org/obo/GO_0034755 HP:0031888 biolink:PhenotypicFeature Abnormal HDL cholesterol concentration Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031888 HP:0004295 biolink:PhenotypicFeature Abnormal gastric mucosa morphology An abnormality of the gastric mucous membrane. UMLS:C4025362 hp.json Abnormality of the mucous membrane layer of stomach|Abnormality of the gastric mucosa http://purl.obolibrary.org/obo/HP_0004295 HP:0004294 biolink:PhenotypicFeature Subluxation of metacarpal phalangeal joints A partial dislocation affecting some or all of the metacarpophalangeal joints. UMLS:C4025363 hp.json Subluxation of metacarpophalangeal joints|Partial knuckle dislocation http://purl.obolibrary.org/obo/HP_0004294 HP:0004293 biolink:PhenotypicFeature Synostosis of second metacarpal-trapezoid Fusion of the second metacarpal-trapezoid. UMLS:C4021665 hp.json Fusion of second metacarpal-trapezoid http://purl.obolibrary.org/obo/HP_0004293 HP:0004292 biolink:PhenotypicFeature Undermodelled hand bones UMLS:C4025364 hp.json http://purl.obolibrary.org/obo/HP_0004292 NBO:0000121 biolink:NamedThing agonistic behavior hp.json agonism http://purl.obolibrary.org/obo/NBO_0000121 HP:0004299 biolink:PhenotypicFeature Hernia of the abdominal wall The presence of a hernia in the abdominal wall. SNOMEDCT_US:128545000|Fyler:4414|UMLS:C1442978 hp.json Herniated abdominal wall http://purl.obolibrary.org/obo/HP_0004299 hposlim_core NBO:0000120 biolink:NamedThing physical aggression behavior "An aggressive behavior that aims to inflicting damage on another entity using physical means." [NBO:GVG] hp.json physical aggression behaviour|violent behaviour http://purl.obolibrary.org/obo/NBO_0000120 HP:0041200 biolink:PhenotypicFeature Fractured sternal end of clavicle A partial or complete breakage of the sternal end of clavicle. hp.json bone sternal end of clavicle http://purl.obolibrary.org/obo/HP_0041200 HP:0004298 biolink:PhenotypicFeature Abnormality of the abdominal wall The presence of any abnormality affecting the abdominal wall. UMLS:C4021664 hp.json Abnormality of external features of the abdomen|Abnormality of the abdominal wall http://purl.obolibrary.org/obo/HP_0004298 hposlim_core HP:0004297 biolink:PhenotypicFeature Abnormality of the biliary system An abnormality of the biliary system. UMLS:C0940767 hp.json http://purl.obolibrary.org/obo/HP_0004297 HP:0004296 biolink:PhenotypicFeature Abnormal gastrointestinal vascular morphology UMLS:C4025361 hp.json Abnormality of GI vasculature|Abnormality of GI blood vessels|Abnormality of gastrointestinal vasculature http://purl.obolibrary.org/obo/HP_0004296 HP:0041215 biolink:PhenotypicFeature Fractured fused metatarsal bones 2-4 A partial or complete breakage of the fused metatarsal bones 2-4. hp.json bone fused metatarsal bones 2-4 http://purl.obolibrary.org/obo/HP_0041215 HP:0041216 biolink:PhenotypicFeature Fractured distal epiphysis of distal phalanx of manual digit 1 A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1. hp.json bone distal epiphysis of distal phalanx of manual digit 1 http://purl.obolibrary.org/obo/HP_0041216 HP:0041213 biolink:PhenotypicFeature Fractured proximal phalanx of digit 4 A partial or complete breakage of the proximal phalanx of digit 4. hp.json bone proximal phalanx of digit 4 http://purl.obolibrary.org/obo/HP_0041213 HP:0041214 biolink:PhenotypicFeature Fractured proximal phalanx of digit 5 A partial or complete breakage of the proximal phalanx of digit 5. hp.json bone proximal phalanx of digit 5 http://purl.obolibrary.org/obo/HP_0041214 NBO:0000129 biolink:NamedThing agitation behavior "Emotional behavior related to excitement or restlessness." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000129 NBO:0000128 biolink:NamedThing irritability behavior "Behavior characterized by a quick excitability to annoyance, impatience, or anger." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000128 HP:0041219 biolink:PhenotypicFeature Fractured elbow A partial or complete breakage of the elbow. hp.json bone elbow http://purl.obolibrary.org/obo/HP_0041219 HP:0041217 biolink:PhenotypicFeature Fractured shoulder A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint. hp.json bone shoulder joint http://purl.obolibrary.org/obo/HP_0041217 HP:0041218 biolink:PhenotypicFeature Fractured distal phalanx A partial or complete breakage of the distal phalanx. hp.json bone distal phalanx http://purl.obolibrary.org/obo/HP_0041218 GO:0007143 biolink:BiologicalProcess female meiotic nuclear division A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the female germline. hp.json female meiosis|female meiotic division http://purl.obolibrary.org/obo/GO_0007143 HP:0031890 biolink:PhenotypicFeature Increased urine urobilinogen An elevated concentration of urobilinogen in the urine. hp.json http://purl.obolibrary.org/obo/HP_0031890 HP:0031891 biolink:PhenotypicFeature Decreased eosinophil count Abnormal reduction in the count of eosinophils in the blood per volume. hp.json http://purl.obolibrary.org/obo/HP_0031891 GO:0046717 biolink:BiologicalProcess acid secretion The controlled release of acid by a cell or a tissue. hp.json http://purl.obolibrary.org/obo/GO_0046717 GO:0046716 biolink:BiologicalProcess muscle cell cellular homeostasis The cellular homeostatic process that preserves a muscle cell in a stable functional or structural state. hp.json muscle fiber maintenance|muscle homeostasis http://purl.obolibrary.org/obo/GO_0046716 HP:0031898 biolink:PhenotypicFeature Rouleaux formation Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells. hp.json Increased rouleaux formation http://purl.obolibrary.org/obo/HP_0031898 HP:0031899 biolink:PhenotypicFeature Abnormal coagulation factor V activity Any deviation from the activity of coagulation factor V. hp.json Abnormal factor V activity http://purl.obolibrary.org/obo/HP_0031899 NBO:0000134 biolink:NamedThing food consumption "A feeding behavior associated with the intake of food." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000134 NBO:0000133 biolink:NamedThing liquid preference/aversion hp.json http://purl.obolibrary.org/obo/NBO_0000133 HP:0041211 biolink:PhenotypicFeature Fractured proximal phalanx of digit 2 A partial or complete breakage of the proximal phalanx of digit 2. hp.json bone proximal phalanx of digit 2 http://purl.obolibrary.org/obo/HP_0041211 NBO:0000130 biolink:NamedThing liquid consumption "A behavior associated with the intake of liquid." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000130 HP:0041212 biolink:PhenotypicFeature Fractured proximal phalanx of digit 3 A partial or complete breakage of the proximal phalanx of digit 3. hp.json bone proximal phalanx of digit 3 http://purl.obolibrary.org/obo/HP_0041212 HP:0041210 biolink:PhenotypicFeature Fractured lateral malleolus of fibula A partial or complete breakage of the lateral malleolus of fibula. hp.json bone lateral malleolus of fibula http://purl.obolibrary.org/obo/HP_0041210 HP:0031823 biolink:PhenotypicFeature Reduced hypoxanthine-guanine phosphoribosyltransferase level Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. hp.json Reduced 6-mercaptopurine phosphoribosyltransferase level|Reduced 6-hydroxypurine phosphoribosyltransferase level|Reduced GMP pyrophosphorylase level http://purl.obolibrary.org/obo/HP_0031823 HP:0031824 biolink:PhenotypicFeature Hepatic mastocytosis Liver mast cell infiltration. hp.json http://purl.obolibrary.org/obo/HP_0031824 HP:0006858 biolink:PhenotypicFeature Impaired distal proprioception A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. UMLS:C4021585 hp.json Distal sensory loss of proprioception http://purl.obolibrary.org/obo/HP_0006858 HP:0031825 biolink:PhenotypicFeature Freezing of gait Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. hp.json Freezing gait http://purl.obolibrary.org/obo/HP_0031825 HP:0006859 biolink:PhenotypicFeature Posterior leukoencephalopathy UMLS:C4024975 hp.json http://purl.obolibrary.org/obo/HP_0006859 HP:0031826 biolink:PhenotypicFeature Abnormal reflex Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). hp.json http://purl.obolibrary.org/obo/HP_0031826 HP:0006852 biolink:PhenotypicFeature Episodic generalized hypotonia The occurrence of repeated episodes of generalized muscular hypotonia. UMLS:C4024976 hp.json Episodic generalised hypotonia http://purl.obolibrary.org/obo/HP_0006852 HP:0031820 biolink:PhenotypicFeature Decreased waist to hip ratio Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. hp.json Decreased WHR|Decreased waist-hip ratio|Decreased waist-to-hip ratio http://purl.obolibrary.org/obo/HP_0031820 HP:0031821 biolink:PhenotypicFeature Abnormal hypoxanthine-guanine phosphoribosyltransferase level Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. hp.json Abnormal GPRT level|Abnormal 6-hydroxypurine phosphoribosyltransferase level|Abnormal GMP pyrophosphorylase level http://purl.obolibrary.org/obo/HP_0031821 HP:0031822 biolink:PhenotypicFeature Elevated hypoxanthine-guanine phosphoribosyltransferase level Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. hp.json Elevated 6-mercaptopurine phosphoribosyltransferase level|Elevated 6-hydroxypurine phosphoribosyltransferase level|Elevated GMP pyrophosphorylase level http://purl.obolibrary.org/obo/HP_0031822 HP:0006855 biolink:PhenotypicFeature Cerebellar vermis atrophy Wasting (atrophy) of the vermis of cerebellum. UMLS:C0742028 hp.json Vermian atrophy|Atrophy of the cerebellar vermis|Atrophy of cerebellar vermis http://purl.obolibrary.org/obo/HP_0006855 HP:0006850 biolink:PhenotypicFeature Hypoplasia of the ventral pons Underdevelopment of the ventral portion of the pons. UMLS:C1843507 hp.json Underdeveloped ventral pons http://purl.obolibrary.org/obo/HP_0006850 HP:0006851 biolink:PhenotypicFeature Symmetric spinal nerve root neurofibromas Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. UMLS:C1834236 hp.json Spinal nerve root neurofibromas, symmetric, multiple http://purl.obolibrary.org/obo/HP_0006851 HP:0031827 biolink:PhenotypicFeature Absent abdominal reflex Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus. hp.json Abdominal reflex absent http://purl.obolibrary.org/obo/HP_0031827 HP:0031828 biolink:PhenotypicFeature Abnormal superficial reflex An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons. hp.json http://purl.obolibrary.org/obo/HP_0031828 HP:0031829 biolink:PhenotypicFeature Absent cremaster reflex Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex. hp.json Absent cremasteric reflex http://purl.obolibrary.org/obo/HP_0031829 CHEBI:35703 biolink:ChemicalSubstance xenobiotic A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means. Wikipedia:Xenobiotic|KEGG:C06708 hp.json xenobiotic|xenobiotics|Xenobiotic|xenobiotic compounds http://purl.obolibrary.org/obo/CHEBI_35703 3_STAR HP:0004209 biolink:PhenotypicFeature Clinodactyly of the 5th finger Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). UMLS:C4280538|UMLS:C1850049 hp.json Permanent curving of the pinkie finger|Curvature of pinkie finger|Curvature of pinky finger|Curvature of little finger|Bilateral fifth finger clinodactyly|Fifth finger clinodactyly|Clinodactyly of fifth digit|Clinodactyly of the little finger|Bilateral fifth digit clinodactyly http://purl.obolibrary.org/obo/HP_0004209 HP:0031834 biolink:PhenotypicFeature Aortopulmonary collateral arteries Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. hp.json http://purl.obolibrary.org/obo/HP_0031834 HP:0004203 biolink:PhenotypicFeature obsolete Short proximal phalanx of the ring finger hp.json http://purl.obolibrary.org/obo/HP_0004203 HP:0031835 biolink:PhenotypicFeature Abnormal superoxide dismutase level An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. hp.json Abnormal superoxide:superoxide oxidoreductase activity http://purl.obolibrary.org/obo/HP_0031835 HP:0031836 biolink:PhenotypicFeature Increased superoxide dismutase level Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. hp.json Increased superoxide:superoxide oxidoreductase activity http://purl.obolibrary.org/obo/HP_0031836 HP:0004202 biolink:PhenotypicFeature obsolete Lytic defects of the proximal phalanx of the ring finger hp.json http://purl.obolibrary.org/obo/HP_0004202 HP:0004201 biolink:PhenotypicFeature obsolete Expanded proximal phalanx of the ring finger hp.json http://purl.obolibrary.org/obo/HP_0004201 HP:0031837 biolink:PhenotypicFeature Decreased superoxide dismutase level Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. hp.json Decreased superoxide:superoxide oxidoreductase activity http://purl.obolibrary.org/obo/HP_0031837 HP:0031830 biolink:PhenotypicFeature Pinguecula A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea. hp.json http://purl.obolibrary.org/obo/HP_0031830 HP:0006863 biolink:PhenotypicFeature Severe expressive language delay A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. UMLS:C1851085|SNOMEDCT_US:62221000119105 hp.json http://purl.obolibrary.org/obo/HP_0006863 HP:0004207 biolink:PhenotypicFeature Abnormal 5th finger morphology An abnormality affecting one or both 5th fingers. UMLS:C4021678 hp.json Abnormality of the 5th finger|Abnormality of the pinky finger|Abnormality of the little finger|Abnormality of the pinkie finger http://purl.obolibrary.org/obo/HP_0004207 HP:0031831 biolink:PhenotypicFeature Decreased serum zinc A reduced concentration of zinc in the blood. hp.json http://purl.obolibrary.org/obo/HP_0031831 HP:0006865 biolink:PhenotypicFeature Sensorimotor polyneuropathy affecting arms more than legs UMLS:C4024974 hp.json http://purl.obolibrary.org/obo/HP_0006865 HP:0031832 biolink:PhenotypicFeature Hypermetric downward saccades Overshoot of downward saccadic eye movements. hp.json http://purl.obolibrary.org/obo/HP_0031832 CHEBI:35701 biolink:ChemicalSubstance ester A compound formally derived from an oxoacid RkE(=O)l(OH)m (l > 0) and an alcohol, phenol, heteroarenol, or enol by linking with formal loss of water from an acidic hydroxy group of the former and a hydroxy group of the latter. Wikipedia:Ester|KEGG:C00287 hp.json esters|Ester http://purl.obolibrary.org/obo/CHEBI_35701 3_STAR HP:0031833 biolink:PhenotypicFeature Hypometric upward saccades Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. hp.json http://purl.obolibrary.org/obo/HP_0031833 HP:0006866 biolink:PhenotypicFeature Midline central nervous system lipomas UMLS:C4024973 hp.json Midline CNS lipomas http://purl.obolibrary.org/obo/HP_0006866 HP:0031838 biolink:PhenotypicFeature Presence of xenobiotic Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids. hp.json http://purl.obolibrary.org/obo/HP_0031838 HP:0031840 biolink:PhenotypicFeature Urine xenobiotic The presence of a xenobiotic in urine. hp.json http://purl.obolibrary.org/obo/HP_0031840 PATO:0000701 biolink:NamedThing smooth A texture quality inhering in a bearer by virtue of the bearer's processing a surface free of roughness or irregularities. hp.json http://purl.obolibrary.org/obo/PATO_0000701 value_slim|mpath_slim PATO:0000700 biolink:NamedThing rough A texture quality inhering in a bearer by virtue of the bearer's irregular surface. hp.json coarse http://purl.obolibrary.org/obo/PATO_0000700 value_slim|mpath_slim PR:P10696 biolink:Protein alkaline phosphatase, germ cell type (human) An alkaline phosphatase, germ cell type that is encoded in the genome of human. UniProtKB:P10696 hp.json hALPG|alkaline phosphatase, placental-like (human)|alkaline phosphatase Nagao isozyme (human)|GCAP (human)|placental alkaline phosphatase-like (human)|ALPG|ALPPL2|ALPPL|ALP-1 (human)|PLAP-like (human)|germ cell alkaline phosphatase (human) http://purl.obolibrary.org/obo/PR_P10696 HP:0006834 biolink:PhenotypicFeature Developmental stagnation at onset of seizures A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. UMLS:C1836829 hp.json http://purl.obolibrary.org/obo/HP_0006834 HP:0031845 biolink:PhenotypicFeature Abnormal libido Any deviation from the normal sexual drive or desire for sexual activity. hp.json http://purl.obolibrary.org/obo/HP_0031845 HP:0031846 biolink:PhenotypicFeature Femur fracture A break or crush injury of the thigh bone (femur). MSH:D005264 hp.json Femoral fracture http://purl.obolibrary.org/obo/HP_0031846 HP:0031847 biolink:PhenotypicFeature Difficulty walking backward Reduced ability to walk (ambulate) in a backwards direction. hp.json http://purl.obolibrary.org/obo/HP_0031847 HP:0006837 biolink:PhenotypicFeature Congenital Horner syndrome A type of Horner syndrome with congenital onset. MSH:C564178|UMLS:C1840475 hp.json http://purl.obolibrary.org/obo/HP_0006837 HP:0031848 biolink:PhenotypicFeature Cock-walk gait An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor. hp.json http://purl.obolibrary.org/obo/HP_0031848 GO:0032092 biolink:BiologicalProcess positive regulation of protein binding Any process that activates or increases the frequency, rate or extent of protein binding. hp.json up-regulation of protein binding|up regulation of protein binding|activation of protein binding|stimulation of protein binding|upregulation of protein binding http://purl.obolibrary.org/obo/GO_0032092 HP:0031841 biolink:PhenotypicFeature Positive urine methadone test Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine. hp.json http://purl.obolibrary.org/obo/HP_0031841 HP:0006830 biolink:PhenotypicFeature obsolete Severe neonatal hypotonia in males hp.json http://purl.obolibrary.org/obo/HP_0006830 GO:0032091 biolink:BiologicalProcess negative regulation of protein binding Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. hp.json inhibition of protein binding|downregulation of protein binding|down-regulation of protein binding|down regulation of protein binding http://purl.obolibrary.org/obo/GO_0032091 HP:0031842 biolink:PhenotypicFeature Lymphangiectasis Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma. hp.json Lymphangiectasia http://purl.obolibrary.org/obo/HP_0031842 HP:0031843 biolink:PhenotypicFeature Bradyphrenia Abnormal slowness of thought processes. hp.json Slowness of thought|Slowed thoughts|Slowed thinking|Mental slowness http://purl.obolibrary.org/obo/HP_0031843 HP:0031844 biolink:PhenotypicFeature Euphoria A sense of intense joy or happiness that is beyond what would be expected under the given circumstances. hp.json http://purl.obolibrary.org/obo/HP_0031844 PR:P22646 biolink:Protein T-cell surface glycoprotein CD3 epsilon chain (mouse) A CD3 epsilon that is encoded in the genome of mouse. UniProtKB:P22646 hp.json T-cell surface antigen T3/Leu-4 epsilon chain (mouse)|mCD3E|CD3e (mouse)|Cd3e http://purl.obolibrary.org/obo/PR_P22646 HP:0031849 biolink:PhenotypicFeature Sleep-wake inversion A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night. hp.json Inverted sleep-wake cycle http://purl.obolibrary.org/obo/HP_0031849 GO:0032098 biolink:BiologicalProcess regulation of appetite Any process which modulates appetite, the desire or physical craving for food. hp.json regulation of hunger http://purl.obolibrary.org/obo/GO_0032098 UBERON:0014393 biolink:AnatomicalEntity sweat of axilla Sweat that is produced by the glands of the axilla. FMA:63085 hp.json axillary sweat http://purl.obolibrary.org/obo/UBERON_0014393 UBERON:0014394 biolink:AnatomicalEntity uterine fat pad Encapsulated adipose tissue associated with the uterus. EMAPA:37979 hp.json uterine fat depot|periuterine fat pad|peri-uterine fat pad http://purl.obolibrary.org/obo/UBERON_0014394 pheno_slim UBERON:0014395 biolink:AnatomicalEntity proximal mesopodial bone A proximal mesopodial endochondral element that is composed primarily of a bone tissue. hp.json http://purl.obolibrary.org/obo/UBERON_0014395 UBERON:0014390 biolink:AnatomicalEntity muscle layer of ileum A muscular coat that is part of a ileum. BTO:0005574|FMA:14958 hp.json muscularis propria of ileum|ileal smooth muscle|smooth muscle of ileum|muscularis externa of ileum http://purl.obolibrary.org/obo/UBERON_0014390 UBERON:0014391 biolink:AnatomicalEntity palmar/plantar sweat gland A sweat gland that is part of the skin of the palmar part of the manus or plantar part of the pes. hp.json palmar/plantar eccrine sweat gland|sweat gland of palmar part of manus|sweat gland of palmar/plant part of autopod|palm/sole sweat gland|palmar eccrine sweat gland|palm sweat gland http://purl.obolibrary.org/obo/UBERON_0014391 UBERON:0014392 biolink:AnatomicalEntity sweat of palm Sweat that is produced by the glands on the palmar and plantar surfaces. FMA:63084 hp.json palmar sweat|palm sweat http://purl.obolibrary.org/obo/UBERON_0014392 HP:0031850 biolink:PhenotypicFeature Abnormal hematocrit Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood. hp.json Abnormal Hct http://purl.obolibrary.org/obo/HP_0031850 HP:0031851 biolink:PhenotypicFeature Reduced hematocrit A reduction below the normal ratio of the volume of red blood cells to the total volume of blood. hp.json Low hematocrit|Reduced Hct http://purl.obolibrary.org/obo/HP_0031851 HP:0006849 biolink:PhenotypicFeature Hypodysplasia of the corpus callosum Developmental defect characterized by a small and malformed corpus callosum. UMLS:C1850348 hp.json http://purl.obolibrary.org/obo/HP_0006849 UBERON:0014398 biolink:AnatomicalEntity respiratory muscle Muscle that is part of the respiratory system. MESH:D012132 hp.json http://purl.obolibrary.org/obo/UBERON_0014398 pheno_slim UBERON:0014399 biolink:AnatomicalEntity sinusoidal space An anatomical space that is enclosed by a sinusoid. FMA:63133 hp.json lumen of sinusoid|sinusoid lumen http://purl.obolibrary.org/obo/UBERON_0014399 OBO:uberon/core#in_outermost_side_of biolink:NamedThing in_outermost_side_of hp.json http://purl.obolibrary.org/obo/uberon/core#in_outermost_side_of HP:0031856 biolink:PhenotypicFeature Hobby horse gait An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward. hp.json http://purl.obolibrary.org/obo/HP_0031856 HP:0031857 biolink:PhenotypicFeature Ineffective esophageal peristalsis Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. hp.json Ineffective esophageal motility http://purl.obolibrary.org/obo/HP_0031857 HP:0006846 biolink:PhenotypicFeature Acute encephalopathy SNOMEDCT_US:2776000|UMLS:C1306587 hp.json http://purl.obolibrary.org/obo/HP_0006846 HP:0031858 biolink:PhenotypicFeature Esophageal furrows Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus). hp.json http://purl.obolibrary.org/obo/HP_0031858 HP:0031853 biolink:PhenotypicFeature Isomerism Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other. hp.json http://purl.obolibrary.org/obo/HP_0031853 HP:0031854 biolink:PhenotypicFeature Left Isomerism A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. hp.json Left-sided isomerism http://purl.obolibrary.org/obo/HP_0031854 HP:0031855 biolink:PhenotypicFeature Right isomerism A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures. hp.json Right-sided isomerism http://purl.obolibrary.org/obo/HP_0031855 HP:0006844 biolink:PhenotypicFeature Absent patellar reflexes Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. UMLS:C0558844|SNOMEDCT_US:274817009 hp.json Absent knee jerk reflex http://purl.obolibrary.org/obo/HP_0006844 HP:0004237 biolink:PhenotypicFeature Large carpal bones Increased size of carpal bones. UMLS:C4021671 hp.json Large wrist bones|Large carpals http://purl.obolibrary.org/obo/HP_0004237 hposlim_core HP:0004236 biolink:PhenotypicFeature Irregular carpal bones Carpal bones with irregular or fragmented margins. UMLS:C4025401 hp.json Irregular wrist bones http://purl.obolibrary.org/obo/HP_0004236 HP:0004235 biolink:PhenotypicFeature Comma-shaped carpal bones UMLS:C4025402 hp.json Comma-shaped wrist bones http://purl.obolibrary.org/obo/HP_0004235 HP:0004234 biolink:PhenotypicFeature Bone-in-a-bone appearance of carpal bones The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones. UMLS:C4025403 hp.json Bone-in-a-bone appearance of wrist bones http://purl.obolibrary.org/obo/HP_0004234 HP:0006896 biolink:PhenotypicFeature Hypnopompic hallucinations Fleeting perceptual experiences that occur during the transition from sleep to wakefulness. SNOMEDCT_US:69690008|UMLS:C0424082|MSH:D006212 hp.json http://purl.obolibrary.org/obo/HP_0006896 HP:0006897 biolink:PhenotypicFeature Abducens palsy Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. SNOMEDCT_US:398963001|MSH:D020434|SNOMEDCT_US:398760006|UMLS:C0271355|MSH:C564661|SNOMEDCT_US:398925009 hp.json Abducens nerve paresis|Lateral rectus muscle denervation paresis|Cranial nerve VI palsy|Sixth nerve palsy|Abducens nerve palsy|Abducens nerve paralysis http://purl.obolibrary.org/obo/HP_0006897 HP:0004239 biolink:PhenotypicFeature Proximally placed carpal bones UMLS:C4025399 hp.json http://purl.obolibrary.org/obo/HP_0004239 HP:0006899 biolink:PhenotypicFeature Fusion of the cerebellar hemispheres UMLS:C1866131 hp.json http://purl.obolibrary.org/obo/HP_0006899 HP:0004238 biolink:PhenotypicFeature Lytic defects of carpal bones UMLS:C4025400 hp.json http://purl.obolibrary.org/obo/HP_0004238 HP:0006892 biolink:PhenotypicFeature Frontotemporal cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. UMLS:C4021584 hp.json Cerebral atrophy, frontotemporal http://purl.obolibrary.org/obo/HP_0006892 HP:0006893 biolink:PhenotypicFeature obsolete Severely dysplastic cerebellum hp.json http://purl.obolibrary.org/obo/HP_0006893 HP:0006894 biolink:PhenotypicFeature Hypoplastic olfactory lobes UMLS:C1859231 hp.json http://purl.obolibrary.org/obo/HP_0006894 HP:0006895 biolink:PhenotypicFeature Lower limb hypertonia UMLS:C1845245 hp.json http://purl.obolibrary.org/obo/HP_0006895 HP:0004233 biolink:PhenotypicFeature Advanced ossification of carpal bones Ossification of carpal bones at an abnormally early age. UMLS:C1849292|UMLS:C4280536 hp.json Accelerated wrist bone maturation|Accelerated carpal bone maturation|Precociously ossified carpal bones|Advanced carpal bone age|Advanced carpal ossification http://purl.obolibrary.org/obo/HP_0004233 HP:0004232 biolink:PhenotypicFeature Accessory carpal bones The presence of more than the normal number of carpal bones. SNOMEDCT_US:20136007|UMLS:C0265609|SNOMEDCT_US:9181003 hp.json Supernumerary carpal bones|Extra wrist bones http://purl.obolibrary.org/obo/HP_0004232 HP:0004231 biolink:PhenotypicFeature Carpal bone aplasia Congenital absence of a carpal bone. UMLS:C4280537|UMLS:C1836219 hp.json Absent carpal bone|Absent carpal ossification center|Missing wrist bone|Absent carpal bones|Aplastic carpal bone|Absent wrist bone|Absent carpal ossification centre http://purl.obolibrary.org/obo/HP_0004231 GO:0019098 biolink:BiologicalProcess reproductive behavior The specific behavior of an organism that is associated with reproduction. hp.json multi-organism reproductive behavior|reproductive behavior in a multicellular organism|multicellular organism reproductive behavior|reproductive behaviour|single-organism reproductive behavior http://purl.obolibrary.org/obo/GO_0019098 goslim_drosophila HP:0004230 biolink:PhenotypicFeature Subluxation of the proximal interphalangeal joint of the little finger A partial dislocation of the proximal interphalangeal joint of the little finger. UMLS:C4025404 hp.json Partially dislocated innermost hinge joint of pinkie finger|Partially dislocated innermost hinge joint of little finger|Partially dislocated innermost hinge joint of pinky finger http://purl.obolibrary.org/obo/HP_0004230 HP:0006891 biolink:PhenotypicFeature Thick cerebral cortex UMLS:C4024970 hp.json http://purl.obolibrary.org/obo/HP_0006891 HP:0004248 biolink:PhenotypicFeature Abnormality of the lunate bone UMLS:C4025393 hp.json http://purl.obolibrary.org/obo/HP_0004248 HP:0004247 biolink:PhenotypicFeature Small scaphoid Underdevelopment of the scaphoid. UMLS:C4025394 hp.json http://purl.obolibrary.org/obo/HP_0004247 HP:0004246 biolink:PhenotypicFeature Delayed ossification of the scaphoid Formation of bone tissue of scaphoid is less than expected for age. UMLS:C4021670 hp.json Delayed maturation of the scaphoid http://purl.obolibrary.org/obo/HP_0004246 GO:0032060 biolink:BiologicalProcess bleb assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. hp.json membrane blebbing|plasma membrane blebbing|cell blebbing|plasma membrane bleb assembly|blebbing http://purl.obolibrary.org/obo/GO_0032060 HP:0004245 biolink:PhenotypicFeature Comma-shaped scaphoid UMLS:C4025395 hp.json http://purl.obolibrary.org/obo/HP_0004245 UBERON:0026386 biolink:AnatomicalEntity lumbar spinal cord white matter BIRNLEX:1639 hp.json lumbar spinal cord white matter|lumbar spinal cord white matter http://purl.obolibrary.org/obo/UBERON_0026386 HP:0004249 biolink:PhenotypicFeature Accessory lunate UMLS:C4025392 hp.json http://purl.obolibrary.org/obo/HP_0004249 HP:0004240 biolink:PhenotypicFeature Sclerotic foci within carpal bones UMLS:C4025398|UMLS:C4280535 hp.json Hardened spots within wrist bones|Stiffened spots within wrist bones http://purl.obolibrary.org/obo/HP_0004240 HP:0004244 biolink:PhenotypicFeature Accessory scaphoid UMLS:C4025396 hp.json http://purl.obolibrary.org/obo/HP_0004244 HP:0004243 biolink:PhenotypicFeature Abnormality of the scaphoid UMLS:C4025397 hp.json http://purl.obolibrary.org/obo/HP_0004243 CHEBI:3992 biolink:ChemicalSubstance cyclic ketone KEGG:C02019 hp.json cyclic ketones|Cyclic ketone http://purl.obolibrary.org/obo/CHEBI_3992 3_STAR HP:0004242 biolink:PhenotypicFeature Broad carpal bones UMLS:C3554618 hp.json Wide carpal bones|Wide wrist bones http://purl.obolibrary.org/obo/HP_0004242 HP:0004241 biolink:PhenotypicFeature Stippled calcification in carpal bones Point-shaped (punctate) calcifications affecting the carpal bones. UMLS:C1844846 hp.json Punctate calcifications of carpals http://purl.obolibrary.org/obo/HP_0004241 GO:0007097 biolink:BiologicalProcess nuclear migration The directed movement of the nucleus to a specific location within a cell. hp.json positioning of nucleus|establishment of nucleus localization|establishment of position of nucleus|nucleus migration|establishment of cell nucleus localization|nuclear positioning|establishment of localization of nucleus|nucleus positioning|nuclear movement|establishment of nucleus localisation http://purl.obolibrary.org/obo/GO_0007097 goslim_aspergillus HP:0031801 biolink:PhenotypicFeature Vocal cord dysfunction Any functional anomaly of the vocal cord. hp.json http://purl.obolibrary.org/obo/HP_0031801 HP:0004214 biolink:PhenotypicFeature Curved phalanges of the 5th finger Curved phalanges of the 5th (little) finger. UMLS:C4025407 hp.json Curved pinky finger bone|Curved little finger bone|Curved pinkie finger bone http://purl.obolibrary.org/obo/HP_0004214 HP:0006879 biolink:PhenotypicFeature Pontocerebellar atrophy Atrophy affecting the pons and the cerebellum. UMLS:C1853766 hp.json Cerebellopontine atrophy http://purl.obolibrary.org/obo/HP_0006879 HP:0031803 biolink:PhenotypicFeature Fundus hemorrhage Bleeding within the fundus of the eye. hp.json Fundus haemorrhage http://purl.obolibrary.org/obo/HP_0031803 HP:0004213 biolink:PhenotypicFeature Abnormal 5th finger phalanx morphology Abnormality of the phalanges of the 5th (little) finger. UMLS:C4025408 hp.json Abnormality of the pinky finger bone|Abnormality of the little finger bone|Abnormality of the pinkie finger bone|Abnormality of the phalanges of the 5th finger http://purl.obolibrary.org/obo/HP_0004213 HP:0031804 biolink:PhenotypicFeature Premacular hemorrhage hp.json Premacular haemorrhage http://purl.obolibrary.org/obo/HP_0031804 HP:0004219 biolink:PhenotypicFeature Abnormality of the middle phalanx of the 5th finger UMLS:C4025406 hp.json Abnormality of the middle bone of pinky finger|Abnormality of the middle bone of pinkie finger|Abnormality of the middle bone of little finger http://purl.obolibrary.org/obo/HP_0004219 HP:0004218 biolink:PhenotypicFeature Symphalangism of the 5th finger Fusion of two or more bones of the 5th finger. UMLS:C4021676 hp.json Fused little finger bones|Fused pinky finger bones|Symphalagism of the little finger|Fifth finger symphalangism|Fused pinkie finger bones http://purl.obolibrary.org/obo/HP_0004218 HP:0031800 biolink:PhenotypicFeature Elevated circulating apolipoprotein A-II concentration An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism. hp.json Elevated APOAII level|Elevated apoA-II level|Elevated apolipoprotein A-II level|Elevated Apo-AII level http://purl.obolibrary.org/obo/HP_0031800 HP:0004216 biolink:PhenotypicFeature Osteolytic defects of the phalanges of the 5th finger Dissolution or degeneration of bone tissue of the phalanges of the 5th finger. UMLS:C4021677 hp.json Lytic defects of the phalanges of the little finger http://purl.obolibrary.org/obo/HP_0004216 HP:0006877 biolink:PhenotypicFeature obsolete Mental retardation, in some hp.json http://purl.obolibrary.org/obo/HP_0006877 HP:0006870 biolink:PhenotypicFeature Lobar holoprosencephaly A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. MSH:D016142|UMLS:C0431362|SNOMEDCT_US:253136007 hp.json http://purl.obolibrary.org/obo/HP_0006870 HP:0031809 biolink:PhenotypicFeature Archibald's sign Shortening of the fourth and fifth metacarpals when the fist is clenched. hp.json Archibald's metacarpal sign|Knuckle dimple http://purl.obolibrary.org/obo/HP_0031809 GO:0032059 biolink:CellularComponent bleb A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. Wikipedia:Bleb_(cell_biology) hp.json plasma membrane bleb http://purl.obolibrary.org/obo/GO_0032059 goslim_pir GO:0032058 biolink:BiologicalProcess positive regulation of translational initiation in response to stress Any process that activates or increases the frequency, rate or extent of translation initiation as a result of a stimulus indicating the organism is under stress. hp.json upregulation of translation initiation in response to stress|stimulation of translation initiation in response to stress|up regulation of translation initiation in response to stress|up-regulation of translation initiation in response to stress|activation of translation initiation in response to stress http://purl.obolibrary.org/obo/GO_0032058 HP:0006872 biolink:PhenotypicFeature Cerebral hypoplasia Underdevelopment of the cerebrum. UMLS:C1855330 hp.json Underdeveloped cerebrum|Small cerebrum http://purl.obolibrary.org/obo/HP_0006872 GO:0032057 biolink:BiologicalProcess negative regulation of translational initiation in response to stress Any process that stops, prevents or reduces the rate of translation initiation as a result of a stimulus indicating the organism is under stress. hp.json inhibition of translation initiation in response to stress|down-regulation of translation initiation in response to stress|downregulation of translation initiation in response to stress|down regulation of translation initiation in response to stress http://purl.obolibrary.org/obo/GO_0032057 HP:0006873 biolink:PhenotypicFeature Symmetrical progressive peripheral demyelination A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. UMLS:C4024972 hp.json http://purl.obolibrary.org/obo/HP_0006873 HP:0031805 biolink:PhenotypicFeature Intraretinal hemorrhage A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. hp.json Intraretinal haemorrhage http://purl.obolibrary.org/obo/HP_0031805 HP:0031806 biolink:PhenotypicFeature Abnormal basophil count Any deviation from the normal number of basophils per volume in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0031806 HP:0031807 biolink:PhenotypicFeature Increased basophil count An abnormally increased count of basophils per volume in the blood circulation. hp.json Basophilia http://purl.obolibrary.org/obo/HP_0031807 HP:0031808 biolink:PhenotypicFeature Decreased basophil count An abnormally reduced count of basophils per volume in the blood circulation. hp.json http://purl.obolibrary.org/obo/HP_0031808 HP:0004226 biolink:PhenotypicFeature Curved distal phalanx of the 5th finger Curved appearance of the distal phalanx of the 5th (little) finger. UMLS:C4021672 hp.json Curved terminal phalanx of the little finger|Curved outermost pinky finger bone|Curved outermost little finger bone|Curved outermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0004226 HP:0006889 biolink:PhenotypicFeature Intellectual disability, borderline Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. SNOMEDCT_US:77287004|UMLS:C0006009 hp.json Intellectual disability, borderline|Mental retardation, borderline http://purl.obolibrary.org/obo/HP_0006889 HP:0031812 biolink:PhenotypicFeature Nitrituria Presence of nitrites in the urine. hp.json http://purl.obolibrary.org/obo/HP_0031812 HP:0004225 biolink:PhenotypicFeature Abnormality of the distal phalanx of the 5th finger Abnormality of the distal phalanx of the 5th (little) finger. UMLS:C4021673 hp.json Abnormality of the outermost little finger bone|Abnormality of the terminal phalanx of the little finger|Abnormality of the outermost pinky finger bone|Abnormality of the outermost pinkie finger bone|Abnormality of the distal phalanx of the little finger http://purl.obolibrary.org/obo/HP_0004225 HP:0031813 biolink:PhenotypicFeature Colonic eosinophilia An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon. hp.json Eosinophilic infiltration in the colon|Eosinophilic colitis http://purl.obolibrary.org/obo/HP_0031813 HP:0004224 biolink:PhenotypicFeature Abnormality of the epiphysis of the middle phalanx of the 5th finger Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. UMLS:C4025405 hp.json Abnormality of the end part of middle little finger bone|Abnormality of the end part of middle pinkie finger bone|Abnormality of the end part of middle pinky finger bone http://purl.obolibrary.org/obo/HP_0004224 HP:0031814 biolink:PhenotypicFeature Palilalia Repetition of one's own words or phrases. hp.json http://purl.obolibrary.org/obo/HP_0031814 HP:0004223 biolink:PhenotypicFeature Ivory epiphysis of the distal phalanx of the 5th finger Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. UMLS:C4021674 hp.json Ivory epiphysis of the distal phalanx of the little finger|Increased bone density of end part of the outermost pinky finger bone|Increased bone density of end part of the outermost little finger bone|Increased bone density of end part of the outermost pinkie finger bone|Ivory epiphysis of the terminal phalanx of the little finger http://purl.obolibrary.org/obo/HP_0004223 HP:0031815 biolink:PhenotypicFeature Abnormal oral physiology A functional anomaly of the mouth (which is also known as the oral cavity). hp.json http://purl.obolibrary.org/obo/HP_0031815 HP:0006886 biolink:PhenotypicFeature Impaired distal vibration sensation A decrease in the ability to perceive vibration in the distal portions of the limbs. UMLS:C1853767 hp.json Decreased distal vibration sense http://purl.obolibrary.org/obo/HP_0006886 HP:0006887 biolink:PhenotypicFeature Intellectual disability, progressive The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. UMLS:C1846149 hp.json Progressive mental retardation|Mental retardation, progressive|Intellectual disability, progressive http://purl.obolibrary.org/obo/HP_0006887 HP:0031810 biolink:PhenotypicFeature Anti-ganglioside antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides. hp.json http://purl.obolibrary.org/obo/HP_0031810 HP:0004227 biolink:PhenotypicFeature Short distal phalanx of the 5th finger Hypoplastic/small distal phalanx of the fifth finger. UMLS:C1836674 hp.json Short outermost pinkie finger bone|Fifth digit distal phalangeal hypoplasia|Brachytelophalangism V|Short distal phalanx of the fifth finger|Short outermost pinky finger bone|Short outermost little finger bone|Hypoplastic/small terminal phalanx of the little finger http://purl.obolibrary.org/obo/HP_0004227 HP:0031811 biolink:PhenotypicFeature Bilirubinuria Presence of conjugated bilirubin in the urine. hp.json http://purl.obolibrary.org/obo/HP_0031811 HP:0006888 biolink:PhenotypicFeature Meningoencephalocele SNOMEDCT_US:52330001|UMLS:C0266456 hp.json http://purl.obolibrary.org/obo/HP_0006888 HP:0006881 biolink:PhenotypicFeature Diffuse peripheral demyelination A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. UMLS:C4024971 hp.json http://purl.obolibrary.org/obo/HP_0006881 HP:0006882 biolink:PhenotypicFeature Severe hydrocephalus UMLS:C3278123 hp.json http://purl.obolibrary.org/obo/HP_0006882 HP:0004222 biolink:PhenotypicFeature Cone-shaped epiphysis of the distal phalanx of the 5th finger A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4021675 hp.json Cone-shaped epiphysis of the distal phalanx of the little finger|Cone-shaped end part of the outermost pinky finger bone|Cone-shaped end part of the outermost little finger bone|Cone-shaped end part of the outermost pinkie finger bone http://purl.obolibrary.org/obo/HP_0004222 HP:0031816 biolink:PhenotypicFeature Abnormal oral morphology Any structural anomaly of the mouth, which is also known as the oral cavity. hp.json http://purl.obolibrary.org/obo/HP_0031816 HP:0031817 biolink:PhenotypicFeature Decreased circulating parathyroid hormone level An abnormally decreased concentration of parathyroid hormone. hp.json Decreased serum parathyroid hormone level|Decreased serum PTH|Decreased serum parathyroid hormone|Decreased circulating PTH level http://purl.obolibrary.org/obo/HP_0031817 HP:0031818 biolink:PhenotypicFeature Abnormal waist to hip ratio A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement. hp.json http://purl.obolibrary.org/obo/HP_0031818 HP:0004220 biolink:PhenotypicFeature Short middle phalanx of the 5th finger Hypoplastic/small middle phalanx of the fifth finger. UMLS:C1834060 hp.json Brachymesophalangy V (finger)|Short middle bone of the little finger|Brachymesophalangism V|Hypoplastic/small middle phalanx of the little finger|Hypoplastic middle phalanx of the 5th finger|Short middle bone of the pinky finger|5th finger middle phalangeal hypoplasia|Fifth finger mid-phalanx hypoplasia|Type A3 brachydactyly|Short middle bone of the pinkie finger|Hypoplastic/small middle phalanx of the 5th finger|Hypoplastic fifth finger middle phalanx|Short middle phalanx of the little finger http://purl.obolibrary.org/obo/HP_0004220 HP:0031819 biolink:PhenotypicFeature Increased waist to hip ratio Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. hp.json Increased WHR|Increased waist-to-hip ratio|Increased waist-hip ratio http://purl.obolibrary.org/obo/HP_0031819 HP:0006880 biolink:PhenotypicFeature Cerebellar hemangioblastoma A hemangioblastoma of the cerebellum. UMLS:C1332900|NCIT:C3801 hp.json Hemangioblastoma, sporadic cerebellar http://purl.obolibrary.org/obo/HP_0006880 GO:0032042 biolink:BiologicalProcess mitochondrial DNA metabolic process The chemical reactions and pathways involving mitochondrial DNA. hp.json mtDNA metabolism|mitochondrial DNA metabolism|mtDNA metabolic process http://purl.obolibrary.org/obo/GO_0032042 GO:0046681 biolink:BiologicalProcess response to carbamate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbamate stimulus. Carbamates are a group of insecticides and parasiticides that act by inhibiting cholinesterase. hp.json carbamate resistance|carbamate susceptibility/resistance http://purl.obolibrary.org/obo/GO_0046681 CL:2000032 biolink:Cell peripheral nervous system neuron Any neuron that is part of a peripheral nervous system. hp.json http://purl.obolibrary.org/obo/CL_2000032 UBERON:0002360 biolink:AnatomicalEntity meninx Membrane organ that surrounds the brain and the spinal cord. EV:0100312|TAO:0001355|MAT:0000113|UMLS:C0025285|MESH:D008578|BTO:0000144|EMAPA:32660|Wikipedia:Meninx|GAID:687|NLXANAT:090204|OpenCyc:Mx4rwDOl8JwpEbGdrcN5Y29ycA|CALOHA:TS-1177|FMA:9589|EFO:0000867|ZFA:0001355|NCIT:C12348|VHOG:0001295|MA:0001113 hp.json meninx primitiva|meningeal layer|layer of meninges http://purl.obolibrary.org/obo/UBERON_0002360 organ_slim|pheno_slim|efo_slim|uberon_slim|vertebrate_core CHEBI:59740 biolink:ChemicalSubstance nucleophilic reagent A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. hp.json nucleophiles|nucleophilic reagents|nucleophile http://purl.obolibrary.org/obo/CHEBI_59740 3_STAR UBERON:0002362 biolink:AnatomicalEntity arachnoid mater A think avascular meningeal layer, between the pia mater and the dural mater. It is separated from the pia mater by the subarachnoid space. BTO:0001636|CALOHA:TS-0052|UMLS:C1510935|EMAPA:32659|MESH:D001099|FMA:9591|NLXANAT:090208|OpenCyc:Mx4rve5HlJwpEbGdrcN5Y29ycA|GAID:688|MA:0001114|NCIT:C32136|EV:0100314 hp.json arachnoidea mater|arachnoid mater of neuraxis|arachnoid membrane|arachnoid http://purl.obolibrary.org/obo/UBERON_0002362 pheno_slim|uberon_slim UBERON:0002361 biolink:AnatomicalEntity pia mater The innermost layer of the leptomeninges, consisting of a delicate membrane closely covering the surface of the brain and spinal cord,and lying under the arachnoid membrane. The pia, unlike the arachnoid, extends into the sulci in gyrencephalic animals. GAID:693|EHDAA:2685|BTO:0001635|NCIT:C33321|EHDAA:2001|EHDAA:6566|EHDAA:2099|OpenCyc:Mx4rvtesBZwpEbGdrcN5Y29ycA|EHDAA:3692|EMAPA:32663|UMLS:C0031869|NLXANAT:090209|EHDAA:6583|FMA:9590|EHDAA:2867|EHDAA:2833|MA:0001116|RETIRED_EHDAA2:0001464|EV:0100315|MESH:D010841|EHDAA2:0004318|EHDAA:1367|EHDAA:3710|EHDAA:1961 hp.json pial membrane|pia mater of neuraxis|pia http://purl.obolibrary.org/obo/UBERON_0002361 pheno_slim|uberon_slim UBERON:0002368 biolink:AnatomicalEntity endocrine gland Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]. Wikipedia:Endocrine_gland|MESH:D004702|UMLS:C0014133|MA:0002563|SCTID:40818001|EMAPA:35999|BTO:0001488|OpenCyc:Mx4rvbkiRZwpEbGdrcN5Y29ycA|EHDAA2:0003098|NCIT:C12704|CALOHA:TS-1300|AEO:0000098|GAID:335|FMA:9602 hp.json ductless gland|glandulae endocrinae|ductless gland|ductless gland|glandulae endocrinae|glandula endocrina http://purl.obolibrary.org/obo/UBERON_0002368 organ_slim|pheno_slim|uberon_slim UBERON:0002367 biolink:AnatomicalEntity prostate gland The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid. UMLS:C0033572|FMA:9600|CALOHA:TS-0828|MESH:D011467|VHOG:0001261|EV:0100104|BTO:0001129|EMAPA:19287|NCIT:C12410|OpenCyc:Mx4rv6trqZwpEbGdrcN5Y29ycA|GAID:392|MAT:0000078|MIAA:0000078|MA:0000404|galen:ProstateGland|EFO:0000858 hp.json male prostate|prostata|prostate http://purl.obolibrary.org/obo/UBERON_0002367 major_organ|organ_slim|pheno_slim|efo_slim|human_reference_atlas|uberon_slim UBERON:0002369 biolink:AnatomicalEntity adrenal gland Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]. UMLS:C0001625|OpenCyc:Mx4rvXYiz5wpEbGdrcN5Y29ycA|galen:AdrenalGland|VHOG:0001141|NCIT:C12666|MIAA:0000071|XAO:0000164|EFO:0000238|MESH:D000311|EV:0100135|AAO:0010551|BTO:0000047|CALOHA:TS-0016|GAID:446|EMAPA:18426|FMA:9604|MA:0000116|MAT:0000071 hp.json epinephros|glandula suprarenalis|suprarenal capsule|suprarenal gland|adrenal|glandula adrenalis|adrenal capsule|atrabiliary capsule|interrenal gland|epinephric gland|glandula suprarenalis|adrenal medulla cell http://purl.obolibrary.org/obo/UBERON_0002369 organ_slim|pheno_slim|uberon_slim UBERON:0002364 biolink:AnatomicalEntity tympanic membrane A thin membrane that separates the external ear from the middle ear, consisting of two epithelia (one part of the the external accoustic meatus epithelium, the other part of the tympanic cavity epithelium) with a fibrous layer between them. Its function is to transmit sound from the air to the ossicles inside the middle ear. The malleus bone bridges the gap between the eardrum and the other ossicles. Rupture or perforation of the eardrum can lead to conductive hearing loss. [WP,unvetted]. GAID:870|EV:0100358|FMA:9595|MESH:D014432|EMAPA:19062|VHOG:0001146|UMLS:C0041445|XAO:0000212|MA:0000257|NCIT:C12502 hp.json Rivinus' membrane|myrinx|eardrum|paries membranaceus cavi tympani|lateral wall of tympanic cavity|tympanum|ear drum|membranous wall of tympanic cavity http://purl.obolibrary.org/obo/UBERON_0002364 organ_slim|pheno_slim|uberon_slim UBERON:0002363 biolink:AnatomicalEntity dura mater Thick, fibrous meningeal covering surrounding the brain and spinal cord. It is the outermost of the three meningeal coverings. It consists of two layers: the periosteal dura linking the inner surface of the skull and the meningeal dura that lies above the arachnoid dural membrane. The meningeal layer draws away from the periosteal layer and certain locations to form the dural reflections. NCIT:C32488|BTO:0001637|EV:0100313|UMLS:C0013313|GAID:691|OpenCyc:Mx4rvvmzqZwpEbGdrcN5Y29ycA|SCTID:362301008|MESH:D004388|EMAPA:32664|FMA:9592|CALOHA:TS-2008|Wikipedia:Dura_mater|NLXANAT:090206|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1462|MA:0001115 hp.json dura mater of neuraxis|dura|pachymeninges http://purl.obolibrary.org/obo/UBERON_0002363 organ_slim|pheno_slim|uberon_slim UBERON:0002365 biolink:AnatomicalEntity exocrine gland A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas. CALOHA:TS-2012|Wikipedia:Exocrine_gland|MA:0002564|BTO:0000765|FMA:9596|GAID:34|EMAPA:35327|SCTID:115976003|UMLS:C0015282|MESH:D005088|EHDAA2:0003097|AEO:0000097|NCIT:C12712 hp.json glandula exocrina|ducted gland|glandula exocrina http://purl.obolibrary.org/obo/UBERON_0002365 organ_slim|pheno_slim|uberon_slim UBERON:0002349 biolink:AnatomicalEntity myocardium The middle layer of the heart, comprised mainly of striated cardiac muscle fibers. TAO:0001319|Wikipedia:Myocardium|EHDAA2:0004150|CALOHA:TS-0440|BTO:0000901|galen:Myocardium|OpenCyc:Mx4ro36AFrCvEduAAAAOpmP6tw|UMLS:C0027061|RETIRED_EHDAA2:0001220|VHOG:0000083|XAO:0000065|MA:0000164|AAO:0010410|MAT:0000453|GAID:173|FMA:9462|BSA:0000089|EMAPA:32688|MESH:D009206|EV:0100022|ZFA:0001319|SCTID:362012001|EFO:0000819|NCIT:C12371 hp.json heart muscle|heart muscle|cardiac muscle|heart myocardium|muscle of heart http://purl.obolibrary.org/obo/UBERON_0002349 uberon_slim|vertebrate_core|pheno_slim|efo_slim CL:2000022 biolink:Cell cardiac septum cell Any native cell that is part of a cardiac septum. hp.json http://purl.obolibrary.org/obo/CL_2000022 CL:2000025 biolink:Cell spinal cord oligodendrocyte Any oligodendrocyte that is part of a spinal cord. hp.json http://purl.obolibrary.org/obo/CL_2000025 CL:2000020 biolink:Cell inner cell mass cell Any native cell that is part of a inner cell mass. hp.json http://purl.obolibrary.org/obo/CL_2000020 UBERON:0002351 biolink:AnatomicalEntity sinoatrial node The part of the cardiac conduction system that controls the timing of heart muscle contraction. It relays electrical signals to the AV node[GO]. Subdivision of conducting system of heart at the junction of the right atrium and the superior vena cava, around the sinoatrial nodal branch of right coronary artery and is continuous with the internodal tract[FMA]. NCIT:C33555|GAID:561|FMA:9477|ZFA:0005069|SCTID:277687007|MA:0000097|OpenCyc:Mx4rOhejDGMcEd2AAABQjYGu0g|UMLS:C0037189|TAO:0005069|BTO:0004358|MESH:D012849|Wikipedia:Sinoatrial_node|EHDAA2:0004184|EMAPA:35772 hp.json sinoatrial node|sinuatrial nodal muscle tissue|SA node|SA nodal muscle tissue|nodus sinuatrialis|sinuatrial node|nodus sinuatrialis|node of Keith-Flack|sinu-atrial node|Koch's node|cardiac pacemaker|sinus node|sinus node of Keith and Flack http://purl.obolibrary.org/obo/UBERON_0002351 pheno_slim|uberon_slim|vertebrate_core CHEBI:35786 biolink:ChemicalSubstance phosphosphingolipid hp.json http://purl.obolibrary.org/obo/CHEBI_35786 UBERON:0002350 biolink:AnatomicalEntity conducting system of heart The cardiac conduction system consists of specialized cardiomyocytes that regulate the frequency of heart beat[GO]. VHOG:0001271|SCTID:281489000|MESH:D006329|FMA:9476|EV:0100025|EMAPA:35428|MA:0000094|ZFA:0005063|EFO:0003909|EHDAA2:0004185|TAO:0005063 hp.json complexus stimulans cordis|systema conducente cordis|heart conduction system|cardiac impulse conducting system|central conduction system|cardiac conduction system|impulse conducting system|cardiac conducting system|cardionector http://purl.obolibrary.org/obo/UBERON_0002350 pheno_slim|efo_slim|vertebrate_core CHEBI:35788 biolink:ChemicalSubstance seco-steroid hp.json seco-steroids http://purl.obolibrary.org/obo/CHEBI_35788 3_STAR CL:2000029 biolink:Cell central nervous system neuron Any neuron that is part of a central nervous system. hp.json http://purl.obolibrary.org/obo/CL_2000029 CHEBI:35789 biolink:ChemicalSubstance oxo steroid hp.json ketosteroids|keto steroids|oxo steroids|oxosteroids http://purl.obolibrary.org/obo/CHEBI_35789 3_STAR UBERON:0002357 biolink:AnatomicalEntity serous pericardium Serous membrane which is divided into parietal and visceral serous pericardium. SCTID:243954002|Wikipedia:Serous_pericardium|FMA:9582|EMAPA:19030|MA:0002739 hp.json pericardium serosum|pericardium serosum|serous portion of pericardium http://purl.obolibrary.org/obo/UBERON_0002357 uberon_slim UBERON:0002356 biolink:AnatomicalEntity perineum Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, abdomen, and pelvis, it constitutes the trunk[FMA]. MESH:D010502|EFO:0004141|FMA:9579|MA:0002466|GAID:90|NCIT:C33301|UMLS:C0031066|galen:Perineum|EMAPA:36628|EV:0100013|EHDAA2:0004015|OpenCyc:Mx4rvcHSh5wpEbGdrcN5Y29ycA hp.json regio perinealis|perineal region http://purl.obolibrary.org/obo/UBERON_0002356 pheno_slim|efo_slim|uberon_slim UBERON:0002359 biolink:AnatomicalEntity fibrous pericardium Membrane organ which is attached to the pericardial sac proper and the central tendon of diaphragm and is continuous with the pretracheal fascia.[FMA]. EMAPA:19029|Wikipedia:Fibrous_pericardium|FMA:9586|SCTID:243953008|MA:0002738 hp.json pericardium fibrosum|pericardium fibrosum|fibrous portion of pericardium http://purl.obolibrary.org/obo/UBERON_0002359 uberon_slim|organ_slim UBERON:0002358 biolink:AnatomicalEntity peritoneum A serous membrane that lines the peritoneal cavity[VHOG,modified]. UMLS:C0031153|GAID:18|OpenCyc:Mx4rvjJ72ZwpEbGdrcN5Y29ycA|Wikipedia:Peritoneum|FMA:9584|CALOHA:TS-2072|NCIT:C12770|EV:0100087|ZFA:0005120|galen:Peritoneum|MA:0000449|VHOG:0001257|XAO:0000139|TAO:0005120|MESH:D010537|BTO:0001472|AAO:0010814 hp.json peritonaeum http://purl.obolibrary.org/obo/UBERON_0002358 uberon_slim|vertebrate_core|pheno_slim CHEBI:35780 biolink:ChemicalSubstance phosphate ion A phosphorus oxoanion that is the conjugate base of phosphoric acid. hp.json phosphate|phosphate ions|Pi http://purl.obolibrary.org/obo/CHEBI_35780 3_STAR UBERON:0002352 biolink:AnatomicalEntity atrioventricular node An area of conducting tissue between the atria and the ventricles of the heart that conducts the normal electrical impulse from the atria to the ventricles. EMAPA:35153|TAO:0005070|FMA:9478|MAT:0000498|UMLS:C0004247|MA:0000095|EFO:0000276|BTO:0005689|Wikipedia:Atrioventricular_node|NCIT:C32161|MESH:D001283|SCTID:277688002|GAID:558|OpenCyc:Mx4rMfD91mMcEd2AAABQjYGu0g|VHOG:0001474|ZFA:0005070|EHDAA2:0004183 hp.json atriovetricular node|AV node|AV nodal muscle tissue|nodus atrioventricularis|Aschoff-Tawara node|atrio-ventricular node|A-V node|node of Tawara|atrioventricular nodal muscle tissue|downstream pacemaker|nodus atrioventricularis|nodus atrioventricularis http://purl.obolibrary.org/obo/UBERON_0002352 vertebrate_core|pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0002355 biolink:AnatomicalEntity pelvic region of trunk The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. EFO:0002805|NCIT:C12767|FMA:9578|SCTID:229765004|Wikipedia:Pelvis|MESH:D010388|MESH:A01.673|galen:Pelvis|BTO:0001006|MA:0000030|EV:0100012|OpenCyc:Mx4rvVjiTJwpEbGdrcN5Y29ycA|EMAPA:35931|GAID:87|UMLS:C0030797|CALOHA:TS-2227 hp.json true pelvis|pelvis region|pelvic region|pelvis|lesser pelvis http://purl.obolibrary.org/obo/UBERON_0002355 pheno_slim|efo_slim|uberon_slim CHEBI:35782 biolink:ChemicalSubstance diphosphate ion hp.json diphosphate ions|PPi http://purl.obolibrary.org/obo/CHEBI_35782 3_STAR UBERON:0002354 biolink:AnatomicalEntity cardiac Purkinje fiber The cardiac Purkinje fiber is part of the cardiac conduction system that receives signals from the bundle of His and innervates the ventricular cardiac muscle. Wikipedia:Purkinje_fiber|EMAPA:35718|BTO:0001735|GAID:560|UMLS:C0034144|NCIT:C33430|MA:0000096|FMA:9492|MESH:D011690 hp.json cardiac Purkinje fiber|heart Purkinje fiber|subendocardial branch|Purkinje fiber|myofibra conducens cardiacus http://purl.obolibrary.org/obo/UBERON_0002354 pheno_slim|uberon_slim GO:0044042 biolink:NamedThing glucan metabolic process hp.json http://purl.obolibrary.org/obo/GO_0044042 UBERON:0002338 biolink:AnatomicalEntity lamina propria of bronchus A lamina propria that is part of a bronchus [Automatically generated definition]. MA:0001836|FMA:86619|EMAPA:35194|UMLS:C1707054|NCIT:C49212 hp.json lamina propria mucosa of bronchial trunk|lamina propria mucosa of bronchus|lamina propria of bronchi|lamina propria of bronchial trunk|lamina propria mucosae of bronchi|lamina propria mucosae of bronchial trunk|bronchial lamina propria|bronchus lamina propria mucosae|bronchi lamina propria mucosa|bronchial trunk lamina propria mucosa|bronchial trunk lamina propria mucosae|bronchi lamina propria mucosae|bronchus lamina propria mucosa|lamina propria mucosae of bronchus|bronchus lamina propria|bronchial trunk lamina propria|bronchi lamina propria|lamina propria mucosa of bronchi http://purl.obolibrary.org/obo/UBERON_0002338 CHEBI:35753 biolink:ChemicalSubstance tricarboxylic acid anion Any anion of a tricarboxylic acid formed by deprotonation of at least one carboxy group. hp.json tricarboxylic acid anion|tricarboxylic acid anions http://purl.obolibrary.org/obo/CHEBI_35753 3_STAR CHEBI:35757 biolink:ChemicalSubstance monocarboxylic acid anion A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated. KEGG:C00060 hp.json Carboxylate|monocarboxylates|Monocarboxylate|a monocarboxylate|monocarboxylic acid anions http://purl.obolibrary.org/obo/CHEBI_35757 3_STAR UBERON:0002346 biolink:AnatomicalEntity neurectoderm Embryonic ectoderm that gives rise to nervous tissue. CALOHA:TS-1212|NCIT:C34228|FBbt:00001057|UMLS:C1518271|Wikipedia:Neuroectoderm|EHDAA2:0001248|VHOG:0000150|EHDAA:1498|XAO:0000042|EV:0100004|EHDAA:255|ZFA:0001120|FMA:87657|BILA:0000039|EMAPA:16073|TAO:0001120|MAT:0000176|AAO:0011074|MIAA:0000176 hp.json neuroectoderm|ventral neurogenic region|epithelium tubi neuralis; neuroectoderma|presumptive central nervous system|neuaral ectoderm|neural ectoderm|epithelium tubi neuralis; neuroectoderma http://purl.obolibrary.org/obo/UBERON_0002346 uberon_slim|vertebrate_core UBERON:0002345 biolink:AnatomicalEntity descending thoracic aorta The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. EFO:0002527|FMA:87217|MA:0002572|EMAPA:18605 hp.json http://purl.obolibrary.org/obo/UBERON_0002345 pheno_slim|efo_slim|human_reference_atlas UBERON:0002348 biolink:AnatomicalEntity epicardium A region of the serous membrane that forms the innermost layer of the pericardium and the outer surface of the heart. galen:Epicardium|VHOG:0000119|EHDAA2:0002202|ZFA:0005057|UMLS:C0225968|Wikipedia:Epicardium|FMA:9461|TAO:0005057|XAO:0000316|NCIT:C13164|AAO:0010409 hp.json visceral serous pericardium of heart|heart epicardium|pericardium visceral mesothelium|visceral serous pericardium proper http://purl.obolibrary.org/obo/UBERON_0002348 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas UBERON:0002347 biolink:AnatomicalEntity thoracic vertebra A thoracic vertebra endochondral element that is composed primarily of a bone tissue. MESH:D013904|MA:0000314|FMA:9139|OpenCyc:Mx4rvdZIBpwpEbGdrcN5Y29ycA|GAID:244|NCIT:C12798|EMAPA:18011|UMLS:C0039987 hp.json thorax vertebra|vertebra thoracica|dorsal vertebra|vertebra of thorax http://purl.obolibrary.org/obo/UBERON_0002347 uberon_slim|pheno_slim UBERON:0002342 biolink:AnatomicalEntity neural crest A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. EHDAA2:0004419|ZFA:0000045|EMAPA:32737|AAO:0010578|Wikipedia:Neural_crest|TAO:0000045|NCIT:C34222|FMA:86666|BTO:0001764|MAT:0000066|GAID:1310|SCTID:361462002|CALOHA:TS-0676|VHOG:0000057|MIAA:0000066|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1366|MESH:D009432|XAO:0000048|UMLS:C0027789 hp.json NC|neural crest material|crista neuralis|crista neuralis http://purl.obolibrary.org/obo/UBERON_0002342 vertebrate_core|pheno_slim|uberon_slim UBERON:0002343 biolink:AnatomicalEntity abdomen musculature Set of all muscles in abdomen. TAO:0001327|FMA:71294|ZFA:0001327|FMA:86917 hp.json muscle group of abdomen|muscles of abdomen|musculature of abdomen|musculature of abdominal wall|set of muscles of abdomen|abdominal musculature http://purl.obolibrary.org/obo/UBERON_0002343 vertebrate_core|pheno_slim UBERON:0002328 biolink:AnatomicalEntity notochord A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. EMAPA:16191|EHDAA:6021|VHOG:0000199|UMLS:C0028439|http://evolution.berkeley.edu/evolibrary/images/history/notochords.jpg|MAT:0000281|VSAO:0000032|MESH:D009672|ZFA:0000135|AAO:0000327|Wikipedia:Notochord|XAO:0000055|SCTID:308820002|CALOHA:TS-0690|BTO:0001768|TAO:0000135|EV:0100002|EHDAA2:0001277|EHDAA:1241|NCIT:C12463|GAID:1311|FMA:85521 hp.json notochorda|embryonic notocord|notocord|notochorda http://purl.obolibrary.org/obo/UBERON_0002328 uberon_slim|vertebrate_core|pheno_slim UBERON:0002327 biolink:AnatomicalEntity trunk of intercostal nerve EMAPA:18227|FMA:85315|MA:0001176|EMAPA:37720 hp.json intercostal nerve trunk|intercostal neural trunk http://purl.obolibrary.org/obo/UBERON_0002327 UBERON:0002329 biolink:AnatomicalEntity somite Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. EMAPA:31169|AEO:0001015|MIAA:0000068|UMLS:C0376449|XAO:0000058|AAO:0010569|EHDAA:699|GAID:1306|ZFA:0000155|Wikipedia:Somite|NCIT:C34302|EHDAA2:0003436|EHDAA:366|BTO:0001558|MESH:D019170|TAO:0000155|VHOG:0000191|MAT:0000068|FMA:85522 hp.json mesodermal cluster|somitic mesoderm|epithelial somite|epimere mesoderm|epimere|somitus|epithelial somite|somites|somitus http://purl.obolibrary.org/obo/UBERON_0002329 uberon_slim|vertebrate_core|pheno_slim GO:1900543 biolink:BiologicalProcess negative regulation of purine nucleotide metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide metabolic process. hp.json downregulation of purine metabolism|inhibition of purine metabolic process|down-regulation of purine nucleotide metabolic process|downregulation of purine nucleotide metabolism|inhibition of purine metabolism|downregulation of purine metabolic process|down regulation of purine nucleotide metabolic process|negative regulation of purine metabolism|down regulation of purine nucleotide metabolism|down-regulation of purine metabolism|down regulation of purine metabolic process|inhibition of purine nucleotide metabolism|downregulation of purine nucleotide metabolic process|inhibition of purine nucleotide metabolic process|negative regulation of purine nucleotide metabolism|down-regulation of purine nucleotide metabolism|down regulation of purine metabolism|negative regulation of purine metabolic process|down-regulation of purine metabolic process http://purl.obolibrary.org/obo/GO_1900543 CL:2000044 biolink:Cell brain microvascular endothelial cell Any microvascular endothelial cell that is part of a brain. hp.json http://purl.obolibrary.org/obo/CL_2000044 GO:1900542 biolink:BiologicalProcess regulation of purine nucleotide metabolic process Any process that modulates the frequency, rate or extent of purine nucleotide metabolic process. hp.json regulation of purine nucleotide metabolism|regulation of purine metabolic process|regulation of purine metabolism http://purl.obolibrary.org/obo/GO_1900542 CL:2000047 biolink:Cell brainstem motor neuron Any motor neuron that is part of a brainstem. hp.json http://purl.obolibrary.org/obo/CL_2000047 GO:0044058 biolink:BiologicalProcess regulation of digestive system process Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. hp.json http://purl.obolibrary.org/obo/GO_0044058 GO:1900544 biolink:BiologicalProcess positive regulation of purine nucleotide metabolic process Any process that activates or increases the frequency, rate or extent of purine nucleotide metabolic process. hp.json up regulation of purine nucleotide metabolic process|activation of purine nucleotide metabolic process|up-regulation of purine metabolism|positive regulation of purine metabolic process|positive regulation of purine nucleotide metabolism|up regulation of purine nucleotide metabolism|up regulation of purine metabolism|up regulation of purine metabolic process|upregulation of purine nucleotide metabolic process|positive regulation of purine metabolism|activation of purine nucleotide metabolism|up-regulation of purine metabolic process|up-regulation of purine nucleotide metabolism|upregulation of purine metabolism|activation of purine metabolism|up-regulation of purine nucleotide metabolic process|activation of purine metabolic process|upregulation of purine nucleotide metabolism|upregulation of purine metabolic process http://purl.obolibrary.org/obo/GO_1900544 CL:2000046 biolink:Cell ventricular cardiac muscle cell Any cardiac muscle cell that is part of a cardiac ventricle. hp.json http://purl.obolibrary.org/obo/CL_2000046 GO:0044057 biolink:BiologicalProcess regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. hp.json http://purl.obolibrary.org/obo/GO_0044057 CL:2000042 biolink:Cell embryonic fibroblast Any fibroblast that is part of a embryo. hp.json http://purl.obolibrary.org/obo/CL_2000042 UBERON:0004998 biolink:AnatomicalEntity mucosa of pylorus A mucosa that is part of a pylorus [Automatically generated definition]. BTO:0004110|EMAPA:27199|FMA:17461 hp.json stomach pyloric region mucosa of organ|pyloric part of stomach mucosa of organ|organ mucosa of pyloric part of stomach|mucous membrane of pyloric part of stomach|mucosa of pyloric part of stomach|pylorus mucosa|stomach pyloric region mucous membrane|pylorus organ mucosa|antropyloric mucosa|mucosa of organ of stomach pyloric region|pyloric part of stomach mucous membrane|mucosa of organ of pyloric part of stomach|mucous membrane of pylorus|pylorus mucosa of organ|organ mucosa of pylorus|mucosa of stomach pyloric region|organ mucosa of stomach pyloric region|mucous membrane of stomach pyloric region|pyloric part of stomach mucosa|pyloric part of stomach organ mucosa|stomach pyloric region mucosa|pylorus mucous membrane|mucosa of organ of pylorus|stomach pyloric region organ mucosa http://purl.obolibrary.org/obo/UBERON_0004998 UBERON:0002334 biolink:AnatomicalEntity submandibular duct The duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue. NCIT:C33649|MA:0002698|UMLS:C0227472|EMAPA:35833|BTO:0004556|FMA:86266 hp.json ductus submaxillaris|submaxillar gland duct|ductus submandibularis|submandibular salivary duct|submaxillary duct|Wharton's duct http://purl.obolibrary.org/obo/UBERON_0002334 uberon_slim|pheno_slim CHEBI:176497 biolink:ChemicalSubstance geroprotector Any compound that supports healthy aging, slows the biological aging process, or extends lifespan. PMID:30885572|PMID:28580190|PMID:33144142|PMID:23372317|PMID:34606237|PMID:33973253|Wikipedia:Geroprotector hp.json anti-aging agents|geroprotectors|geroprotective agents|geroprotective agent|anti-aging agent|anti-aging drugs|anti-aging drug http://purl.obolibrary.org/obo/CHEBI_176497 3_STAR UBERON:0004999 biolink:AnatomicalEntity mucosa of biliary tree A mucosa that is part of a biliary tree [Automatically generated definition]. FMA:14695 hp.json biliary tree mucosa of organ|organ mucosa of biliary tract|biliary tract mucosa of organ|mucous membrane of biliary tract|mucosa of biliary tract|biliary tree mucous membrane|biliary tract mucosa|biliary tract organ mucosa|mucosa of organ of biliary tract|mucosa of organ of biliary tree|biliary tract mucous membrane|biliary tree mucosa|biliary tree organ mucosa|mucous membrane of biliary tree|organ mucosa of biliary tree http://purl.obolibrary.org/obo/UBERON_0004999 UBERON:0002337 biolink:AnatomicalEntity endometrial stroma The layer of connective tissue comprised of the endometrial lining of the uterus which fluctuates in thickness throughout the menstrual cycle. UMLS:C0227849|NCIT:C32516|EMAPA:35310|MA:0002734|CALOHA:TS-1266|SCTID:254115004|FMA:86487 hp.json stroma of endometrium|endometrium stroma http://purl.obolibrary.org/obo/UBERON_0002337 human_reference_atlas UBERON:0004997 biolink:AnatomicalEntity mucosa of pyloric antrum A mucosa that is part of a pyloric antrum [Automatically generated definition]. FMA:17055|BTO:0004107 hp.json mucosa of organ of pyloric antrum|stomach pyloric antrum mucosa of organ|organ mucosa of antrum of stomach|mucous membrane of antrum of stomach|antrum of stomach mucosa of organ|mucosa of antrum of stomach|pyloric antrum mucosa|pyloric antrum organ mucosa|stomach pyloric antrum mucous membrane|organ mucosa of pyloric antrum|mucous membrane of pyloric antrum|antrum of stomach mucous membrane|mucosa of organ of antrum of stomach|mucosa of organ of stomach pyloric antrum|pyloric antrum mucosa of organ|antrum of stomach mucosa|mucosa of stomach pyloric antrum|antral mucosa|mucous membrane of stomach pyloric antrum|antrum of stomach organ mucosa|organ mucosa of stomach pyloric antrum|stomach pyloric antrum mucosa|gastric antrum mucosa|stomach pyloric antrum organ mucosa|pyloric antrum mucous membrane http://purl.obolibrary.org/obo/UBERON_0004997 UBERON:0002336 biolink:AnatomicalEntity corpus callosum White matter structure containing massive numbers of commissural fibers connecting cortical areas in the two cerebral hemispheres.it is subdivided into a genu, a rostrum, a body, and a splenium. (MM). MIAA:0000286|BM:Tel-CC|OpenCyc:Mx4rvbNzdZwpEbGdrcN5Y29ycA|EMAPA:35253|EV:0100305|VHOG:0001608|EFO:0001390|BTO:0000615|NCIT:C12446|HBA:9222|GAID:683|BIRNLEX:1087|MESH:D003337|MA:0000188|DHBA:10561|MBA:776|CALOHA:TS-0180|MAT:0000286|BAMS:CC|UMLS:C0010090|BAMS:cc|FMA:86464|UMLS:C0010090 hp.json http://purl.obolibrary.org/obo/UBERON_0002336 uberon_slim|pheno_slim|efo_slim UBERON:0002331 biolink:AnatomicalEntity umbilical cord The connecting cord from the developing embryo to the placenta. EMAPA:26115|MESH:D014470|MAT:0000280|CALOHA:TS-1078|OpenCyc:Mx4rvyewDJwpEbGdrcN5Y29ycA|EV:0100127|MIAA:0000280|EHDAA:158|EHDAA2:0000312|EFO:0001415|BTO:0001415|NCIT:C34320|GAID:517|FMA:85541|UMLS:C0041633 hp.json connecting stalk|birth cord|funiculus umbilicalis|chorda umbilicalis|yolk stalk|funiculus umbilicalis http://purl.obolibrary.org/obo/UBERON_0002331 uberon_slim|pheno_slim|efo_slim UBERON:0004995 biolink:AnatomicalEntity mucosa of body of stomach A mucosa that is part of a body of stomach [Automatically generated definition]. FMA:17054 hp.json gastric body mucosa|stomach body mucosa of organ|gastric body organ mucosa|organ mucosa of corpus gastricum (ventriculare)|mucous membrane of corpus gastricum (ventriculare)|corpus gastricum (ventriculare) mucosa of organ|mucosa of organ of gastric body|mucosa of corpus gastricum (ventriculare)|mucosa of organ of body of stomach|body of stomach mucous membrane|mucosa of gastric body|stomach body mucous membrane|mucosa of organ of corpus gastricum (ventriculare)|corpus gastricum (ventriculare) mucous membrane|mucous membrane of gastric body|organ mucosa of gastric body|mucosa of organ of stomach body|corpus gastricum (ventriculare) mucosa|gastric body mucosa of organ|corpus gastricum (ventriculare) organ mucosa|stomach body mucosa|stomach body organ mucosa|body of stomach mucosa|mucosa of stomach body|body of stomach organ mucosa|organ mucosa of stomach body|mucous membrane of stomach body|body of stomach mucosa of organ|organ mucosa of body of stomach|gastric body mucous membrane|mucous membrane of body of stomach http://purl.obolibrary.org/obo/UBERON_0004995 UBERON:0002330 biolink:AnatomicalEntity exocrine system Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia]. UMLS:C1516995|FMA:85539|CALOHA:TS-2057|MA:0002411|Wikipedia:Exocrine_gland|EHDAA2:0002225|EMAPA:35329|WikipediaCategory:Exocrine_system|NCIT:C12957 hp.json exocrine glandular system http://purl.obolibrary.org/obo/UBERON_0002330 uberon_slim|pheno_slim UBERON:0002333 biolink:AnatomicalEntity pulmonary trunk An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. OpenCyc:Mx4rv-6d0ZwpEbGdrcN5Y29ycA|VHOG:0001134|galen:PulmonaryTrunk|FMA:8612|EMAPA:17015|EHDAA2:0001576|MA:0002033|EHDAA:9831|NCIT:C116918 hp.json pulmonary artery (trunk)|main pulmonary artery|trunk of pulmonary arterial tree|main pulmonary artery http://purl.obolibrary.org/obo/UBERON_0002333 uberon_slim|pheno_slim|efo_slim|human_reference_atlas UBERON:0004992 biolink:AnatomicalEntity mucosa of descending colon A mucosa that is part of a descending colon [Automatically generated definition]. FMA:15019 hp.json descending colon mucosa of organ|descending colon mucosa|descending colon organ mucosa|descending colon mucous membrane|mucosa of organ of descending colon|organ mucosa of descending colon|mucous membrane of descending colon http://purl.obolibrary.org/obo/UBERON_0004992 UBERON:0004993 biolink:AnatomicalEntity mucosa of sigmoid colon A mucosa that is part of a sigmoid colon [Automatically generated definition]. FMA:15026 hp.json sigmoid colon mucous membrane|mucosa of organ of sigmoid colon|sigmoid colon mucosa|sigmoid colon organ mucosa|organ mucosa of sigmoid colon|sigmoid colon mucosa of organ|mucous membrane of sigmoid colon http://purl.obolibrary.org/obo/UBERON_0004993 UBERON:0014382 biolink:AnatomicalEntity collection of hairs on head or neck A collection of hairs that is part of a craniocervical region. hp.json http://purl.obolibrary.org/obo/UBERON_0014382 UBERON:0014385 biolink:AnatomicalEntity aryepiglottic fold The entrance of the larynx is a triangular opening, narrow in front, wide behind, and sloping obliquely downward and backward. It is bounded, in front, by the epiglottis; behind, by the apices of the arytenoid cartilages, the corniculate cartilages, and the interarytenoid notch; and on either side, by a fold of mucous membrane, enclosing ligamentous and muscular fibers, stretched between the side of the epiglottis and the apex of the arytenoid cartilage; this is the aryepiglottic fold, on the posterior part of the margin of which the cuneiform cartilage forms a more or less distinct whitish prominence, the cuneiform tubercle. These folds form the upper borders of the quadrangular membrane. NCIT:C32147|UMLS:C1510944|FMA:55448 hp.json aryepiglottis|plica aryepiglottica|aryepiglottic sphincter|ary-epiglottic fold|aryepiglottic folds http://purl.obolibrary.org/obo/UBERON_0014385 pheno_slim GO:0044062 biolink:BiologicalProcess regulation of excretion Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity. hp.json http://purl.obolibrary.org/obo/GO_0044062 GO:0044060 biolink:BiologicalProcess regulation of endocrine process Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. hp.json regulation of endocrine system process http://purl.obolibrary.org/obo/GO_0044060 HGNC:9958 biolink:Gene REN (human) A protein coding gene REN in human. hp.json http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9958 UBERON:0014381 biolink:AnatomicalEntity whorl of hair A patch of hair growing in the opposite direction of the rest of the hair. hp.json hair whorl|whorl http://purl.obolibrary.org/obo/UBERON_0014381 pheno_slim UBERON:0014386 biolink:AnatomicalEntity vertebral endplate Either of the the top and bottom portions of the vertebral bodies that interface with the vertebral discs. It is composed of a layer of thickened cancellous bone. BTO:0005552|FMA:293500 hp.json endplate http://purl.obolibrary.org/obo/UBERON_0014386 pheno_slim HP:0006817 biolink:PhenotypicFeature Aplasia/Hypoplasia of the cerebellar vermis Absence or underdevelopment of the vermis of cerebellum. UMLS:C1855676|UMLS:C3280770 hp.json Hypo/aplastic vermis|Cerebellar vermis aplasia/hypoplasia|Cerebellar vermis aplasia or hypoplasia http://purl.obolibrary.org/obo/HP_0006817 UBERON:0014387 biolink:AnatomicalEntity mesenchyme derived from neural crest Mesenchyme that develops_from the neural crest[Automatically generated definition]. FMA:293883|EMAPA:32735 hp.json neural crest derived mesenchyme|mesenchyme from neural crest|neural crest mesenchyme http://purl.obolibrary.org/obo/UBERON_0014387 UBERON:0014388 biolink:AnatomicalEntity kidney collecting duct epithelium The simple cuboidal epithelium lining the lumen of kidney collecting ducts. EMAPA:37885 hp.json epithelium of collecting duct of renal tubule|collecting duct of renal tubule epithelium|epithelium of renal collecting tubule http://purl.obolibrary.org/obo/UBERON_0014388 pheno_slim HP:0006818 biolink:PhenotypicFeature 4-layered lissencephaly A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm. UMLS:C0431375|SNOMEDCT_US:253147000|MSH:D054221 hp.json Four-layered lissencephaly|Lissencephaly, type I|Type I lissencephaly|Classic lissencephaly|Type 1 lissencephaly http://purl.obolibrary.org/obo/HP_0006818 GO:0044065 biolink:BiologicalProcess regulation of respiratory system process Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system. hp.json http://purl.obolibrary.org/obo/GO_0044065 UBERON:0014389 biolink:AnatomicalEntity gustatory papilla of tongue A papilla that contain taste buds, including the fungiform, foliate, and circumvallate papillae. FMA:54822 hp.json taste papillae|taste papilla|gustatory papillae|gustatory papilla http://purl.obolibrary.org/obo/UBERON_0014389 HP:0006812 biolink:PhenotypicFeature White mater abnormalities in the posterior periventricular region UMLS:C1836525 hp.json http://purl.obolibrary.org/obo/HP_0006812 HP:0006813 biolink:PhenotypicFeature Focal hemiclonic seizure A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. UMLS:C1846620 hp.json Unilateral clonic seizure|Hemiclonic seizure|Unilateral clonic seizures|Hemiclonic seizures http://purl.obolibrary.org/obo/HP_0006813 CHEBI:35735 biolink:ChemicalSubstance dicarboxylic acid monoamide KEGG:C04131 hp.json dicarboxylic acid monoamides http://purl.obolibrary.org/obo/CHEBI_35735 3_STAR UBERON:0014371 biolink:AnatomicalEntity future telencephalon Embryonic structure that gives rise to the telencephalon. TAO:0000571|EMAPA:36024|ZFA:0000571|EHDAA2:0004424 hp.json presumptive telencephalon http://purl.obolibrary.org/obo/UBERON_0014371 GO:0071671 biolink:BiologicalProcess regulation of smooth muscle cell chemotaxis Any process that modulates the frequency, rate, or extent of smooth muscle cell chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_0071671 GO:0071670 biolink:BiologicalProcess smooth muscle cell chemotaxis The directed movement of a smooth muscle cell in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0071670 GO:0044070 biolink:BiologicalProcess regulation of anion transport Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0044070 HP:0006827 biolink:PhenotypicFeature Atrophy of the spinal cord UMLS:C1389102 hp.json Degeneration of the spinal cord http://purl.obolibrary.org/obo/HP_0006827 UBERON:0014375 biolink:AnatomicalEntity intrinsic muscle of manus Any of the intrinsic muscles of the manus (hand). FMA:42380 hp.json intrinsic muscle of hand|intrinsic hand muscle http://purl.obolibrary.org/obo/UBERON_0014375 UBERON:0014376 biolink:AnatomicalEntity thenar muscle Any of the muscles of the thenar eminence, a raised fleshy area on the palm of the hand near the base of the thumb. FMA:64916 hp.json thenar compartment|thenar muscles|thenar eminence|thenar muscle http://purl.obolibrary.org/obo/UBERON_0014376 pheno_slim HP:0006829 biolink:PhenotypicFeature Severe muscular hypotonia A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. UMLS:C1839630 hp.json Hypotonia, severe|Severely decreased muscle tone http://purl.obolibrary.org/obo/HP_0006829 UBERON:0014378 biolink:AnatomicalEntity intrinsic muscle of pes Any of the intrinsic muscles of the pes (foot). FMA:65020 hp.json intrinsic muscle of foot http://purl.obolibrary.org/obo/UBERON_0014378 UBERON:0002393 biolink:AnatomicalEntity pharyngotympanic tube Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA]. GAID:869|FMA:9705|UMLS:C0015183|EMAPA:17601|VHOG:0001145|XAO:0000213|EV:0100359|MA:0000255|NCIT:C12500|AAO:0011016|AAO:0000146 hp.json internal auditory tube|pharyngo-tympanic tube|eustachian tube|auditory tube|tuba auditiva|tuba pharyngotympanica|tuba auditoria|tuba auditiva; tuba auditoria; tuba auditivea http://purl.obolibrary.org/obo/UBERON_0002393 uberon_slim|organ_slim|pheno_slim CHEBI:35740 biolink:ChemicalSubstance liposaccharide hp.json liposaccharides http://purl.obolibrary.org/obo/CHEBI_35740 3_STAR UBERON:0002392 biolink:AnatomicalEntity nasolacrimal duct The paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity. GAID:902|VHOG:0000664|NCIT:C33161|MESH:D009301|UMLS:C0027437|FMA:9703|EMAPA:17853|EHDAA:7849|EHDAA2:0001237|MA:0001299|EHDAA:9094|AAO:0000643|OpenCyc:Mx4rv6PJy5wpEbGdrcN5Y29ycA hp.json tear duct|d. nasolacrimalis|nasolacrimal duct - posterior naris http://purl.obolibrary.org/obo/UBERON_0002392 uberon_slim|pheno_slim HP:0006824 biolink:PhenotypicFeature Cranial nerve paralysis SNOMEDCT_US:73013002|UMLS:C0151311|MSH:D003389|UMLS:C4025709 hp.json Cranial nerve palsy|Cranial nerve palsies|Cranial nerve paresis http://purl.obolibrary.org/obo/HP_0006824 UBERON:0002395 biolink:AnatomicalEntity talus A proximal tarsal bone resulting from fusion of intermedium and fibulare. FMA:9708|BTO:0002354|NCIT:C52799|MESH:D013628|galen:Talus|EMAPA:19135|UMLS:C0039277|GAID:196|MA:0001351 hp.json astragalus bone|os tarsi tibiale|astragalus|astragaloid bone|major ankle bone|os trigonum http://purl.obolibrary.org/obo/UBERON_0002395 pheno_slim|uberon_slim HP:0006825 biolink:PhenotypicFeature Pallor of dorsal columns of the spinal cord An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination. UMLS:C1865416 hp.json http://purl.obolibrary.org/obo/HP_0006825 UBERON:0002394 biolink:AnatomicalEntity bile duct Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine. GAID:280|BTO:0000122|FMA:9706|OpenCyc:Mx4rvdCds5wpEbGdrcN5Y29ycA|VHOG:0000212|EV:0100091|XAO:0000134|AAO:0011019|MA:0000354|CALOHA:TS-0075|EHDAA2:0000741|ZFA:0001100|UMLS:C0005400|EMAPA:35171|MESH:D001652|TAO:0001100|NCIT:C12376 hp.json biliary duct|gall duct|bile tube|hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 uberon_slim|pheno_slim CHEBI:35741 biolink:ChemicalSubstance glycerolipid Any member of the group of lipids containing a common glycerol backbone to which at least one fatty acid-derived group is attached. PMID:18606873 hp.json glycerolipids http://purl.obolibrary.org/obo/CHEBI_35741 3_STAR CHEBI:35744 biolink:ChemicalSubstance carbocyclic fatty acid Any fatty acid containing a ring composed of carbon atoms. hp.json carbocyclic fatty acids http://purl.obolibrary.org/obo/CHEBI_35744 3_STAR HP:0006821 biolink:PhenotypicFeature Frontal polymicrogyria A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. UMLS:C1847356 hp.json Polymicrogyria, anterior to posterior gradient http://purl.obolibrary.org/obo/HP_0006821 UBERON:0002391 biolink:AnatomicalEntity lymph Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system through lymph capillaries[WP]. NCIT:C13252|GAID:1186|MIAA:0000055|ZFA:0005658|MESH:D008196|CALOHA:TS-0580|BTO:0000855|MA:0002520|VHOG:0001590|EV:0100049|galen:Lymph|FMA:9671|OpenCyc:Mx4rvpDOU5wpEbGdrcN5Y29ycA|ENVO:02000041|MAT:0000055|UMLS:C0024202|EFO:0000871 hp.json lympha http://purl.obolibrary.org/obo/UBERON_0002391 efo_slim|uberon_slim|pheno_slim UBERON:0002390 biolink:AnatomicalEntity hematopoietic system Anatomical system that is involved in the production of hematopoietic cells. EMAPA:35402|TAO:0005023|UMLS:C0018957|MIAA:0000022|BTO:0000570|FMA:9667|XAO:0000122|MA:0002434|GAID:1008|EFO:0000798|Wikipedia:Haematopoiesis|SCTID:362587009|NCIT:C12909|CALOHA:TS-0449|EV:0100045|ZFA:0005023|AAO:0011002|MESH:D006413|VHOG:0001624|MAT:0000022 hp.json hemopoietic system|haematopoietic system|haematological system|hematological system|organa haemopoietica|hematolymphoid system|haemopoietic system|Blutbildungssystem http://purl.obolibrary.org/obo/UBERON_0002390 efo_slim|uberon_slim|vertebrate_core|pheno_slim GO:0071677 biolink:BiologicalProcess positive regulation of mononuclear cell migration Any process that increases the rate, frequency or extent of mononuclear cell migration. Mononuclear cell migration is the movement of a mononuclear cell within or between different tissues and organs of the body. hp.json up regulation of mononuclear cell migration|stimulation of mononuclear cell migration|up-regulation of mononuclear cell migration|activation of mononuclear cell migration|upregulation of mononuclear cell migration http://purl.obolibrary.org/obo/GO_0071677 GO:0071676 biolink:BiologicalProcess negative regulation of mononuclear cell migration Any process that decreases the rate, frequency or extent of mononuclear cell migration. Mononuclear cell migration is the movement of a mononuclear cell within or between different tissues and organs of the body. hp.json downregulation of mononuclear cell migration|down regulation of mononuclear cell migration|inhibition of mononuclear cell migration|down-regulation of mononuclear cell migration http://purl.obolibrary.org/obo/GO_0071676 UBERON:0002397 biolink:AnatomicalEntity maxilla The bone which normally forms the lateral upper jaw in osteichthyans, including tetrapods. EHDAA2:0001068|MESH:D008437|ZFA:0000270|EMAPA:17639|MA:0001491|AAO:0000285|CALOHA:TS-2217|TAO:0000270|EHDAA:8043|NCIT:C26470|FMA:9711|VHOG:0001021|galen:Maxilla|UMLS:C0024947|GAID:220|VSAO:0000207 hp.json upper jaw bone|maxillary bone|maxillae http://purl.obolibrary.org/obo/UBERON_0002397 pheno_slim|uberon_slim|vertebrate_core GO:0071675 biolink:BiologicalProcess regulation of mononuclear cell migration Any process that modulates the rate, frequency or extent of mononuclear cell migration. Mononuclear cell migration is the movement of a mononuclear cell within or between different tissues and organs of the body. hp.json http://purl.obolibrary.org/obo/GO_0071675 UBERON:0002396 biolink:AnatomicalEntity vomer The triangular flat bone of the nasal septum. OpenCyc:Mx4rv6jKWZwpEbGdrcN5Y29ycA|ZFA:0000308|UMLS:C0242403|TAO:0000308|MESH:D055172|NCIT:C33888|FMA:9710|AAO:0000633|MA:0001496 hp.json prevomer|vomer bone http://purl.obolibrary.org/obo/UBERON_0002396 pheno_slim|uberon_slim|vertebrate_core GO:0071674 biolink:BiologicalProcess mononuclear cell migration The movement of a mononuclear cell within or between different tissues and organs of the body. hp.json http://purl.obolibrary.org/obo/GO_0071674 GO:0071673 biolink:BiologicalProcess positive regulation of smooth muscle cell chemotaxis Any process that activates or increases the frequency, rate, or extent of smooth muscle cell chemotaxis. hp.json stimulation of smooth muscle cell chemotaxis|upregulation of smooth muscle cell chemotaxis|up-regulation of smooth muscle cell chemotaxis|up regulation of smooth muscle cell chemotaxis|activation of smooth muscle cell chemotaxis http://purl.obolibrary.org/obo/GO_0071673 GO:0071672 biolink:BiologicalProcess negative regulation of smooth muscle cell chemotaxis Any process that stops, prevents, or reduces the frequency, rate, or extent of smooth muscle cell chemotaxis. hp.json down-regulation of smooth muscle cell chemotaxis|down regulation of smooth muscle cell chemotaxis|inhibition of smooth muscle cell chemotaxis|downregulation of smooth muscle cell chemotaxis http://purl.obolibrary.org/obo/GO_0071672 UBERON:0002398 biolink:AnatomicalEntity manus Distal segment of the fore limb, including carpal region, metacarpal region and digits. BTO:0004668|MESH:D006225|GAID:56|EMAPA:17428|EHDAA2:0000728|OpenCyc:Mx4rvViGVZwpEbGdrcN5Y29ycA|VHOG:0000344|AAO:0010803|NLXANAT:20090603|CALOHA:TS-2213|NCIT:C32712|UMLS:C0018563|FMA:9712|galen:Hand|MA:0000037 hp.json forefoot|forefoot of quadruped|forefeet|fore-paw|forepaw|forelimb autopod|hand|hand region|fore foot|forelimb autopodium|terminal segment of free upper limb|fore paw http://purl.obolibrary.org/obo/UBERON_0002398 pheno_slim|uberon_slim GO:0044085 biolink:BiologicalProcess cellular component biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. hp.json cellular component biogenesis at cellular level http://purl.obolibrary.org/obo/GO_0044085 goslim_pir CL:2000013 biolink:Cell fibroblast of skin of abdomen Any skin fibroblast that is part of a skin of abdomen. hp.json http://purl.obolibrary.org/obo/CL_2000013 GO:0044089 biolink:BiologicalProcess positive regulation of cellular component biogenesis Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. hp.json http://purl.obolibrary.org/obo/GO_0044089 CHEBI:35718 biolink:ChemicalSubstance antifungal agent An antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce. hp.json antifungal agents|antifungal drugs|antifungal|antifungals|antifungal drug http://purl.obolibrary.org/obo/CHEBI_35718 3_STAR CL:2000010 biolink:Cell dermis blood vessel endothelial cell Any blood vessel endothelial cell that is part of a dermis. hp.json http://purl.obolibrary.org/obo/CL_2000010 GO:0044087 biolink:BiologicalProcess regulation of cellular component biogenesis Any process that modulates the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. hp.json http://purl.obolibrary.org/obo/GO_0044087 GO:0044088 biolink:BiologicalProcess regulation of vacuole organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a vacuole. hp.json regulation of vacuole biogenesis|regulation of vacuole organisation http://purl.obolibrary.org/obo/GO_0044088 UBERON:0002382 biolink:AnatomicalEntity rectus abdominis muscle The rectus abdominis muscle is a paired muscle running vertically on each side of the anterior wall of the abdomen. There are two parallel sets of muscles, separated by a midline band of connective tissue called the linea alba (white line). It extends from the pubic symphysis/pubic crest inferiorly to the xiphisternum/xiphoid process and lower costal cartilages (5-7) superiorly. It is contained in the Rectus sheath. The rectus is usually crossed by three fibrous bands licked by the tendinous inscriptions. [WP,modified]. MESH:D017568|EMAPA:18164|EHDAA2:0001595|VHOG:0000863|FMA:9628|NCIT:C33449|EHDAA:8252|XAO:0004128|AAO:0010789|UMLS:C0206066|GAID:142|MA:0002364 hp.json musculus rectus abdominis|m. rectus abdominis|rectus abdominis http://purl.obolibrary.org/obo/UBERON_0002382 pheno_slim|uberon_slim|organ_slim UBERON:0002381 biolink:AnatomicalEntity pectoralis major The pectoralis major is a thick, fan-shaped muscle, situated at the upper front of the chest wall. It makes up the bulk of the chest muscles in the male and lies under the breast in the female. Underneath the pectoralis major is the pectoralis minor, a thin, triangular muscle. [WP,unvetted]. NCIT:C33284|VHOG:0000895|EHDAA:8311|FMA:9627|EMAPA:18179|UMLS:C0585574|EHDAA2:0001424|MA:0002354 hp.json pectoralis major muscle structure|musculus pectoralis major|pectoralis major muscle http://purl.obolibrary.org/obo/UBERON_0002381 pheno_slim|uberon_slim|organ_slim CL:2000019 biolink:Cell compound eye photoreceptor cell Any photoreceptor cell that is part of a compound eye. hp.json http://purl.obolibrary.org/obo/CL_2000019 UBERON:0002384 biolink:AnatomicalEntity connective tissue Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. FMA:9640|SCTID:361919005|VSAO:0000017|MIAA:0000301|BTO:0000421|NCIT:C12374|CALOHA:TS-2009|AAO:0000098|galen:ConnectiveTissue|XAO:0001017|ZFA:0001632|UMLS:C0009780|OpenCyc:Mx4rv-aBgZwpEbGdrcN5Y29ycA|GAID:100|EMAPA:35251|MESH:D003238|TAO:0001641|MA:0000011|EFO:0000952|MAT:0000301 hp.json portion of connective tissue|textus connectivus|Bindegewebe http://purl.obolibrary.org/obo/UBERON_0002384 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core CL:2000016 biolink:Cell lung microvascular endothelial cell Any lung endothelial cell that is part of a microvascular endothelium. hp.json http://purl.obolibrary.org/obo/CL_2000016 UBERON:0002380 biolink:AnatomicalEntity trapezius muscle A large superficial muscle that extends longitudinally from the occipital bone to the lower thoracic vertebrae and laterally to the spine of the scapula (shoulder blade). Its functions are to move the scapulae and support the arm. The trapezius has three functional regions: the superior region (descending part), which supports the weight of the arm; the intermediate region (transverse part), which retracts the scapulae; and the inferior region (ascending part), which medially rotates and depresses the scapulae. [WP,unvetted]. EMAPA:18183|UMLS:C0224361|FMA:9626|MA:0002398|VHOG:0000834|NCIT:C33809 hp.json trapezius|spinotrapezius|musculus trapezius http://purl.obolibrary.org/obo/UBERON_0002380 uberon_slim UBERON:0002389 biolink:AnatomicalEntity manual digit A digit that is part of a manus (hand). galen:Finger|BTO:0004669|GAID:57|MA:0000041|OpenCyc:Mx4rvVi_f5wpEbGdrcN5Y29ycA|NCIT:C32608|EMAPA:32642|MESH:D005385|UMLS:C0016129|NLXANAT:20090602|EHDAA2:0000404|AAO:0000857|FMA:9666|XAO:0003036 hp.json forelimb digit|digit of hand|fore digit|hand digit|digitus manus|digit of manus|manual digit (phalangeal portion) plus soft tissue|finger http://purl.obolibrary.org/obo/UBERON_0002389 pheno_slim|uberon_slim UBERON:0002386 biolink:AnatomicalEntity forelimb zeugopod The middle limb segment of the pectoral free limb, between the autopod and stylopod segments. Includes as parts the forelimb zeugopodial skeleton, which includes as parts the radius and ulna, or their cartilage precursors, or evolutionary variants. BTO:0001447|OpenCyc:Mx4rvVjnmpwpEbGdrcN5Y29ycA|MESH:D005542|GAID:55|NCIT:C32628|EMAPA:17417|CALOHA:TS-2205|galen:Forearm|EHDAA:4172|VHOG:0000341|UMLS:C0016536|EFO:0003053|VSAO:0005058|EHDAA:6218|MA:0000034|FMA:9663|EHDAA2:0000553 hp.json zeugopod of brachial region|zeugopod of forelimb|regio antebrachialis|antebrachial region|forelimb epipodium|arm zeugopod|brachial region middle limb segment|middle limb segment of proximal segment of free upper limb|middle limb segment of arm|zeugopod of proximal segment of free upper limb|fore epipodium|zeugopod of arm|antebrachium|wing zeugopod|forearm|middle limb segment of forelimb|lower segment of arm|intermediate segment of free upper limb|lower arm|middle limb segment of brachial region|brachial region zeugopod|antibrachium|arm middle limb segment|forelimb zeugopodium|antebrachium|forelimb zygopod|antebrachium http://purl.obolibrary.org/obo/UBERON_0002386 pheno_slim|efo_slim|uberon_slim UBERON:0002385 biolink:AnatomicalEntity muscle tissue Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]. EHDAA2:0003122|galen:MuscleTissue|CALOHA:TS-0642|AEO:0000122|MA:0002437|Wikipedia:Muscle_tissue|AAO:0000306|MESH:D009132|UMLS:C2328219|EMAPA:32715|NCIT:C12435|SCTID:91727004|FMA:9641 hp.json muscular tissue|textus muscularis|portion of muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 uberon_slim UBERON:0002387 biolink:AnatomicalEntity pes Distal portion of the hind limb, including tarsal region, metatarsal region and digits. MA:0000044|BTO:0000476|EMAPA:17459|GAID:40|CALOHA:TS-0377|EFO:0003065|OpenCyc:Mx4rvVi-k5wpEbGdrcN5Y29ycA|EHDAA2:0000546|VHOG:0000350|NCIT:C32622|MESH:D005528|galen:Foot|UMLS:C0016504|FMA:9664 hp.json hindfoot|hindpaw|pes|hind paw|hindlimb autopodium|hindlimb distal free limb segment|hind-paw|hindfeet|hindlimb autopod|hind limb autopodium|foot|terminal segment of free lower limb|hind foot|hindfoot of quadruped http://purl.obolibrary.org/obo/UBERON_0002387 pheno_slim|efo_slim|uberon_slim GO:0071692 biolink:BiologicalProcess protein localization to extracellular region Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. hp.json protein localisation in extracellular region|protein localization in extracellular region http://purl.obolibrary.org/obo/GO_0071692 PR:000045358 biolink:Protein insulin family protein A protein that is a translation product of a gene that encodes a standalone Insulin (Pfam:PF00049) domain preceded by a signal peptide. hp.json fam:INS http://purl.obolibrary.org/obo/PR_000045358 GO:0044092 biolink:BiologicalProcess negative regulation of molecular function Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. hp.json http://purl.obolibrary.org/obo/GO_0044092 GO:0044093 biolink:BiologicalProcess positive regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. hp.json http://purl.obolibrary.org/obo/GO_0044093 GO:0044090 biolink:BiologicalProcess positive regulation of vacuole organization Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a vacuole. hp.json positive regulation of vacuole biogenesis|positive regulation of vacuole organisation http://purl.obolibrary.org/obo/GO_0044090 GO:0044091 biolink:BiologicalProcess membrane biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a membrane. hp.json http://purl.obolibrary.org/obo/GO_0044091 CL:2000001 biolink:Cell peripheral blood mononuclear cell A leukocyte with a single non-segmented nucleus in the mature form found in the circulatory pool of blood. hp.json http://purl.obolibrary.org/obo/CL_2000001 CL:2000000 biolink:Cell epidermal melanocyte Any melanocyte that is part of a epidermis. hp.json http://purl.obolibrary.org/obo/CL_2000000 HP:0006808 biolink:PhenotypicFeature Cerebral hypomyelination Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. UMLS:C2677328 hp.json Hypomyelination of the brain http://purl.obolibrary.org/obo/HP_0006808 UBERON:0002371 biolink:AnatomicalEntity bone marrow The soft tissue that fills the cavities of bones. VHOG:0001218|EV:0100046|NCIT:C12431|UMLS:C0005953|GAID:1287|FMA:9608|Wikipedia:Bone_marrow|MAT:0000084|BTO:0000829|EMAPA:32760|BTO:0000141|galen:BoneMarrow|EFO:0000868|MIAA:0000084|XAO:0000123|CALOHA:TS-0087|SCTID:421320006|MA:0000134|OpenCyc:Mx4rvVm-FpwpEbGdrcN5Y29ycA|AAO:0011007|MESH:D001853 hp.json medulla ossium|medulla ossium|medulla ossea|medullary bone|medulla of bone http://purl.obolibrary.org/obo/UBERON_0002371 pheno_slim|human_reference_atlas|efo_slim|uberon_slim HP:0006801 biolink:PhenotypicFeature Hyperactive deep tendon reflexes UMLS:C1846176 hp.json http://purl.obolibrary.org/obo/HP_0006801 HP:0006802 biolink:PhenotypicFeature Abnormal anterior horn cell morphology Any anomaly of the anterior horn cell. MSH:D016472|UMLS:C0154681|SNOMEDCT_US:85672005|UMLS:C4020812 hp.json Anterior horn cell disease|Anomaly of the anterior horn cells|Abnormality of the anterior horn cells|Abnormality of the anterior horn cell http://purl.obolibrary.org/obo/HP_0006802 UBERON:0002370 biolink:AnatomicalEntity thymus Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. MESH:D013950|EHDAA:9119|MA:0000142|TAO:0001078|EFO:0000860|FMA:9607|UMLS:C0040113|BTO:0001374|EMAPA:18768|VHOG:0000253|AAO:0010548|OpenCyc:Mx4rvpIympwpEbGdrcN5Y29ycA|MAT:0000080|GAID:464|EV:0100138|CALOHA:TS-1043|EHDAA2:0002017|ZFA:0001078|XAO:0000163|NCIT:C12433|MIAA:0000080 hp.json thymus gland|thymus organ http://purl.obolibrary.org/obo/UBERON_0002370 pheno_slim|efo_slim|human_reference_atlas|uberon_slim|vertebrate_core|major_organ|organ_slim CL:2000008 biolink:Cell microvascular endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. hp.json http://purl.obolibrary.org/obo/CL_2000008 HP:0006803 biolink:PhenotypicFeature Vivid hallucinations UMLS:C4024978 hp.json http://purl.obolibrary.org/obo/HP_0006803 UBERON:0002372 biolink:AnatomicalEntity tonsil Either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx. MA:0000143|UMLS:C1519547|EFO:0001401|OpenCyc:Mx4rvVivrZwpEbGdrcN5Y29ycA|VHOG:0001139|FMA:9609|BTO:0001387|MESH:D014066|EV:0100052|NCIT:C12802|EMAPA:35871|UMLS:C0836921|UMLS:C1519548|GAID:341|CALOHA:TS-1053 hp.json Mandel http://purl.obolibrary.org/obo/UBERON_0002372 pheno_slim|efo_slim|uberon_slim CL:2000005 biolink:Cell brain macroglial cell Any macroglial cell that is part of a brain. hp.json http://purl.obolibrary.org/obo/CL_2000005 CHEBI:35722 biolink:ChemicalSubstance sulfated glycosaminoglycan hp.json sulfated glycosaminoglycans|glycosaminoglycan sulfate|glycosaminoglycan sulfates http://purl.obolibrary.org/obo/CHEBI_35722 3_STAR CHEBI:35721 biolink:ChemicalSubstance heparan sulfates hp.json http://purl.obolibrary.org/obo/CHEBI_35721 1_STAR CL:2000004 biolink:Cell pituitary gland cell Any cell that is part of a pituitary gland. hp.json http://purl.obolibrary.org/obo/CL_2000004 CHEBI:35724 biolink:ChemicalSubstance carbohydrate sulfate hp.json carbohydrate sulphates|carbohydrate sulfates http://purl.obolibrary.org/obo/CHEBI_35724 3_STAR UBERON:0002379 biolink:AnatomicalEntity perineal muscle Any muscle organ that is part of a perineum [Automatically generated definition]. EMAPA:36629|NCIT:C33300|MA:0000538|UMLS:C0224382|FMA:9623 hp.json perineal region muscle organ|muscle organ of perineal region|perineum muscle organ|muscle organ of perineum|muscle of perineum http://purl.obolibrary.org/obo/UBERON_0002379 UBERON:0002378 biolink:AnatomicalEntity muscle of abdomen Muscle (organ) which is a part of the abdomen. Examples: external oblique, rectus abdominis. FMA:9620|SCTID:361352008|GAID:89|NCIT:C32040|EMAPA:35103|Wikipedia:Abdominal_muscle|OpenCyc:Mx4rvlygNJwpEbGdrcN5Y29ycA|UMLS:C0000739|MESH:D000009|BTO:0001261|MA:0000520 hp.json abdominal wall musculature|abdomen muscle organ|abdominal wall muscle|abdomen muscle|abdominal muscle|muscle organ of abdomen http://purl.obolibrary.org/obo/UBERON_0002378 pheno_slim|uberon_slim UBERON:0002375 biolink:AnatomicalEntity cricoid cartilage A cartilaginous ring that provides support for the arytenoid cartilages and forms the caudal part of the larynx. GAID:110|VHOG:0001308|MESH:D003413|AAO:0000675|UMLS:C0010323|FMA:9615|EHDAA2:0000326|EHDAA:9393|MA:0001762|EMAPA:18696|NCIT:C32400 hp.json cricoid|cartilago cricoidea|innominate cartilage|cartilago cricoidea|cricoidea|cartilago cricotrachealis|krykoid cartilage|cartilaginis cricoideae http://purl.obolibrary.org/obo/UBERON_0002375 pheno_slim|uberon_slim GO:0071697 biolink:BiologicalProcess ectodermal placode morphogenesis The process in which the anatomical structures of an ectodermal placode are generated and organized. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm. hp.json http://purl.obolibrary.org/obo/GO_0071697 UBERON:0002374 biolink:AnatomicalEntity metacarpal bone A bone that is part of the metacarpal skeleton. NCIT:C12751|EFO:0003886|OpenCyc:Mx4rv1Bk45wpEbGdrcN5Y29ycA|EMAPA:36158|MA:0000302|FMA:9612|galen:Metacarpal|UMLS:C0025526 hp.json metacarpal http://purl.obolibrary.org/obo/UBERON_0002374 pheno_slim|efo_slim|uberon_slim GO:0071696 biolink:BiologicalProcess ectodermal placode development The progression of an ectodermal placode over time from its initial formation until its mature state. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm. hp.json http://purl.obolibrary.org/obo/GO_0071696 UBERON:0002377 biolink:AnatomicalEntity muscle of neck Any muscle that is part of the cervical (neck) region. UMLS:C0027532|EMAPA:36050|NCIT:C33163|FMA:9617|MESH:D009334|GAID:149|MA:0000587 hp.json muscle organ of neck|neck (volume) muscle organ|neck muscle organ|neck muscle|muscle organ of neck (volume) http://purl.obolibrary.org/obo/UBERON_0002377 pheno_slim|uberon_slim GO:0071695 biolink:BiologicalProcess anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. hp.json http://purl.obolibrary.org/obo/GO_0071695 UBERON:0002376 biolink:AnatomicalEntity cranial muscle Any skeletal muscle that is part of the head region. EHDAA2:0000322|EFO:0003524|EMAPA:18172|FMA:9616|BTO:0000021|MA:0000578|AAO:0000107|ZFA:0001652|SCTID:244718003 hp.json head muscles|muscle organ of head|muscle of head|cranial muscle|cephalic muscle|cephalic musculature|head muscle|head muscle organ|adult head muscle organ|muscle organ of adult head|musculus caput http://purl.obolibrary.org/obo/UBERON_0002376 efo_slim|uberon_slim|vertebrate_core GO:0009891 biolink:BiologicalProcess positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. hp.json up regulation of biosynthetic process|stimulation of biosynthetic process|activation of biosynthetic process|up-regulation of biosynthetic process|positive regulation of anabolism|upregulation of biosynthetic process|positive regulation of synthesis|positive regulation of formation|positive regulation of biosynthesis http://purl.obolibrary.org/obo/GO_0009891 GO:0009892 biolink:BiologicalProcess negative regulation of metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. hp.json down regulation of metabolic process|negative regulation of multicellular organismal metabolic process|inhibition of organismal metabolic process|negative regulation of organismal metabolism|downregulation of metabolic process|inhibition of metabolic process|negative regulation of metabolism|down-regulation of metabolic process http://purl.obolibrary.org/obo/GO_0009892 GO:0009893 biolink:BiologicalProcess positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. hp.json upregulation of metabolic process|positive regulation of metabolism|up-regulation of metabolic process|positive regulation of multicellular organismal metabolic process|up-regulation of organismal metabolic process|up regulation of metabolic process|activation of metabolic process|positive regulation of organismal metabolism|stimulation of organismal metabolic process|stimulation of metabolic process http://purl.obolibrary.org/obo/GO_0009893 GO:0071806 biolink:BiologicalProcess protein transmembrane transport The process in which a protein is transported across a membrane. hp.json protein membrane transport http://purl.obolibrary.org/obo/GO_0071806 GO:0046849 biolink:BiologicalProcess bone remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. Wikipedia:Bone_remodeling hp.json bone remodelling http://purl.obolibrary.org/obo/GO_0046849 GO:0009894 biolink:BiologicalProcess regulation of catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances. hp.json regulation of degradation|regulation of catabolism|regulation of breakdown http://purl.obolibrary.org/obo/GO_0009894 GO:0019218 biolink:BiologicalProcess regulation of steroid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids. hp.json regulation of steroid metabolism http://purl.obolibrary.org/obo/GO_0019218 GO:0009895 biolink:BiologicalProcess negative regulation of catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. hp.json negative regulation of breakdown|down-regulation of catabolic process|negative regulation of catabolism|down regulation of catabolic process|inhibition of catabolic process|negative regulation of degradation|downregulation of catabolic process http://purl.obolibrary.org/obo/GO_0009895 GO:0009896 biolink:BiologicalProcess positive regulation of catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. hp.json up regulation of catabolic process|activation of catabolic process|stimulation of catabolic process|upregulation of catabolic process|positive regulation of degradation|positive regulation of catabolism|up-regulation of catabolic process|positive regulation of breakdown http://purl.obolibrary.org/obo/GO_0009896 GO:0019219 biolink:BiologicalProcess regulation of nucleobase-containing compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. hp.json regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process http://purl.obolibrary.org/obo/GO_0019219 GO:0019216 biolink:BiologicalProcess regulation of lipid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. hp.json regulation of lipid metabolism http://purl.obolibrary.org/obo/GO_0019216 GO:0019217 biolink:BiologicalProcess regulation of fatty acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. hp.json regulation of fatty acid metabolism http://purl.obolibrary.org/obo/GO_0019217 NBO:0000064 biolink:NamedThing regulation of drinking behavior "A feeding behavior associated with the intake or the frequency of intake or preference or manner of intake of liquids." [NBO:GVG] hp.json drinking behaviour http://purl.obolibrary.org/obo/NBO_0000064 NBO:0000063 biolink:NamedThing regulation of eating behavior "A feeding behavior associated with the intake or the frequency of intake or preference or manner of intake of food." [NBO:GVG] hp.json eating behaviour http://purl.obolibrary.org/obo/NBO_0000063 GO:0046852 biolink:BiologicalProcess positive regulation of bone remodeling Any process that activates or increases the frequency, rate or extent of bone remodeling. hp.json activation of bone remodeling|stimulation of bone remodeling|upregulation of bone remodeling|up-regulation of bone remodeling|up regulation of bone remodeling http://purl.obolibrary.org/obo/GO_0046852 GO:0046851 biolink:BiologicalProcess negative regulation of bone remodeling Any process that stops, prevents, or reduces the frequency, rate or extent of bone remodeling. hp.json down-regulation of bone remodeling|down regulation of bone remodeling|inhibition of bone remodeling|downregulation of bone remodeling http://purl.obolibrary.org/obo/GO_0046851 GO:0046850 biolink:BiologicalProcess regulation of bone remodeling Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity. hp.json http://purl.obolibrary.org/obo/GO_0046850 GO:0010893 biolink:BiologicalProcess positive regulation of steroid biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. hp.json http://purl.obolibrary.org/obo/GO_0010893 GO:0010894 biolink:BiologicalProcess negative regulation of steroid biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. hp.json http://purl.obolibrary.org/obo/GO_0010894 GO:0019228 biolink:BiologicalProcess neuronal action potential An action potential that occurs in a neuron. hp.json generation of action potential http://purl.obolibrary.org/obo/GO_0019228 NBO:0000079 biolink:NamedThing feeding behavior The act of bringing an object or substance into the body by swallowing, surrounding or absorbing it [NBO:SMAC] hp.json feeding behaviour http://purl.obolibrary.org/obo/NBO_0000079 GO:0019226 biolink:BiologicalProcess transmission of nerve impulse The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. hp.json conduction of nerve impulse|signal transmission along a neuron http://purl.obolibrary.org/obo/GO_0019226 GO:0019221 biolink:BiologicalProcess cytokine-mediated signaling pathway The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. hp.json cytokine and chemokine mediated signaling pathway|cytokine mediated signalling pathway http://purl.obolibrary.org/obo/GO_0019221 GO:0019222 biolink:BiologicalProcess regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. hp.json regulation of multicellular organismal metabolic process|regulation of organismal metabolic process|regulation of metabolism http://purl.obolibrary.org/obo/GO_0019222 goslim_metagenomics NBO:0000075 biolink:NamedThing playing behavior A very broad category including the partial or complete performance of adult functional behaviors in non-functional contexts, as well as interactive behaviors peculiar to immature animals [NBO:AC] hp.json play http://purl.obolibrary.org/obo/NBO_0000075 CHEBI:59698 biolink:ChemicalSubstance phosphoric acids Compounds containing one or more phosphoric acid units. hp.json http://purl.obolibrary.org/obo/CHEBI_59698 3_STAR NBO:0000073 biolink:NamedThing chewing The act of repeated grinding, tearing, and or crushing with teeth or jaws [NBO:SMAC] hp.json chew|gnaw|mastication http://purl.obolibrary.org/obo/NBO_0000073 CHEBI:72695 biolink:ChemicalSubstance organic molecule Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. hp.json organic compounds|organic compound|organic molecules http://purl.obolibrary.org/obo/CHEBI_72695 3_STAR GO:0019220 biolink:BiologicalProcess regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. hp.json regulation of phosphate metabolism http://purl.obolibrary.org/obo/GO_0019220 GO:0007218 biolink:BiologicalProcess neuropeptide signaling pathway A G protein-coupled receptor signaling pathway initiated by a neuropeptide binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. hp.json neuropeptide signalling pathway http://purl.obolibrary.org/obo/GO_0007218 GO:0007216 biolink:BiologicalProcess G protein-coupled glutamate receptor signaling pathway A G protein-coupled receptor signaling pathway initiated by glutamate binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. hp.json metabotropic glutamate receptor signalling pathway|metabotropic glutamate receptor signaling pathway|G-protein coupled glutamate receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007216 GO:0007215 biolink:BiologicalProcess glutamate receptor signaling pathway The series of molecular signals initiated by the binding of glutamate to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. hp.json glutamate signalling pathway|glutamate signaling pathway http://purl.obolibrary.org/obo/GO_0007215 GO:0007210 biolink:BiologicalProcess serotonin receptor signaling pathway The series of molecular signals generated as a consequence of a serotonin receptor binding to one of its physiological ligands. hp.json serotonin receptor signalling pathway http://purl.obolibrary.org/obo/GO_0007210 GO:0044207 biolink:CellularComponent translation initiation ternary complex A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). hp.json Met-tRNA/eIF2.GTP ternary complex|translation initiation (ternary) complex http://purl.obolibrary.org/obo/GO_0044207 GO:0071826 biolink:BiologicalProcess ribonucleoprotein complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. hp.json protein-RNA complex subunit organization|RNA-protein complex subunit organization|ribonucleoprotein complex subunit organisation http://purl.obolibrary.org/obo/GO_0071826 NBO:0000043 biolink:NamedThing bonding behavior A behavior that occurs between two individuals, such as parent and child, and involves an emotional attachment that implies a special and focused relationship. hp.json forming of peer relationship http://purl.obolibrary.org/obo/NBO_0000043 GO:0046877 biolink:BiologicalProcess regulation of saliva secretion Any process that modulates the frequency, rate or extent of the regulated release of saliva from a cell or a tissue. hp.json http://purl.obolibrary.org/obo/GO_0046877 GO:0010876 biolink:BiologicalProcess lipid localization Any process in which a lipid is transported to, or maintained in, a specific location. hp.json lipid localisation http://purl.obolibrary.org/obo/GO_0010876 GO:0046872 biolink:MolecularActivity metal ion binding Binding to a metal ion. hp.json heavy metal binding|metal binding http://purl.obolibrary.org/obo/GO_0046872 goslim_flybase_ribbon|goslim_drosophila|goslim_metagenomics|goslim_agr GO:0009890 biolink:BiologicalProcess negative regulation of biosynthetic process Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances. hp.json negative regulation of formation|downregulation of biosynthetic process|down regulation of biosynthetic process|inhibition of biosynthetic process|down-regulation of biosynthetic process|negative regulation of biosynthesis|negative regulation of anabolism|negative regulation of synthesis http://purl.obolibrary.org/obo/GO_0009890 GO:0009880 biolink:BiologicalProcess embryonic pattern specification The process that results in the patterns of cell differentiation that will arise in an embryo. hp.json embryonic pattern formation|ventral/lateral system|embryonic pattern biosynthesis http://purl.obolibrary.org/obo/GO_0009880 GO:0010873 biolink:BiologicalProcess positive regulation of cholesterol esterification Any process that increases the frequency, rate or extent of cholesterol esterification. Cholesterol esterification is the lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and cholesterol. In the blood this process is associated with the conversion of free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle. hp.json http://purl.obolibrary.org/obo/GO_0010873 CHEBI:84690 biolink:ChemicalSubstance alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1/18:0) A glycotriaosylceramide having alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl as the glycotriaosyl component attached to the Cer(d18:1/18:0). LIPID_MAPS_instance:LMSP0502AA02 hp.json Gb3(d18:1/18:0)|N-[(2S,3R,4E)-1-{[alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl]oxy}-3-hydroxyoctadec-4-en-2-yl]octadecanamide http://purl.obolibrary.org/obo/CHEBI_84690 3_STAR GO:0046879 biolink:BiologicalProcess hormone secretion The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. hp.json http://purl.obolibrary.org/obo/GO_0046879 GO:0010872 biolink:BiologicalProcess regulation of cholesterol esterification Any process that modulates the frequency, rate or extent of cholesterol esterification. Cholesterol esterification is the lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and cholesterol. In the blood this process is associated with the conversion of free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle. hp.json http://purl.obolibrary.org/obo/GO_0010872 GO:0046878 biolink:BiologicalProcess positive regulation of saliva secretion Any process that activates or increases the frequency, rate or extent of the regulated release of saliva. hp.json upregulation of saliva secretion|stimulation of saliva secretion|up regulation of saliva secretion|up-regulation of saliva secretion|activation of saliva secretion http://purl.obolibrary.org/obo/GO_0046878 GO:0009887 biolink:BiologicalProcess animal organ morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. hp.json histogenesis and organogenesis http://purl.obolibrary.org/obo/GO_0009887 GO:0009888 biolink:BiologicalProcess tissue development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. Wikipedia:Histogenesis hp.json histogenesis and organogenesis|histogenesis http://purl.obolibrary.org/obo/GO_0009888 GO:0009889 biolink:BiologicalProcess regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. hp.json regulation of anabolism|regulation of synthesis|regulation of biosynthesis|regulation of formation http://purl.obolibrary.org/obo/GO_0009889 NBO:0000054 biolink:NamedThing suckling behavior "Specific actions of a newborn or infant mammal that result in the derivation of nourishment from the breast." [GOC:dph] hp.json suckling behaviour|nursing behaviour http://purl.obolibrary.org/obo/NBO_0000054 UBERON:0004619 biolink:AnatomicalEntity lumbar vertebra 3 The third lumbar vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. NCIT:C32901|FMA:13074|MA:0001430|UMLS:C0223522|EMAPA:19571 hp.json L3 vertebra|third lumbar vertebra http://purl.obolibrary.org/obo/UBERON_0004619 defined_by_ordinal_series|pheno_slim UBERON:0004617 biolink:AnatomicalEntity lumbar vertebra 1 The first lumbar vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. NCIT:C32899|UMLS:C0223492|FMA:13072|EMAPA:19472|MA:0001428 hp.json L1 vertebra|first lumbar vertebra http://purl.obolibrary.org/obo/UBERON_0004617 defined_by_ordinal_series UBERON:0004618 biolink:AnatomicalEntity lumbar vertebra 2 The second lumbar vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. NCIT:C32900|UMLS:C0223507|FMA:13073|EMAPA:19570|MA:0001429 hp.json L2 vertebra|second lumbar vertebra http://purl.obolibrary.org/obo/UBERON_0004618 defined_by_ordinal_series|pheno_slim UBERON:0004615 biolink:AnatomicalEntity mammalian cervical vertebra 6 The sixth of the seven cervical vertebrae[ncit,modified]. MA:0001426|EMAPA:19466|NCIT:C32244|FMA:12524|UMLS:C0459944 hp.json cervical vertebra 6|C6 vertebra|sixth cervical vertebra http://purl.obolibrary.org/obo/UBERON_0004615 defined_by_ordinal_series|pheno_slim UBERON:0004616 biolink:AnatomicalEntity mammalian cervical vertebra 7 Vertebra prominens is the proper name for the seventh cervical vertebra. The most distinctive characteristic of this vertebra is the existence of a long and prominent spinous process which is palpable from the skin surface, hence the name. This spinous process is thick, nearly horizontal in direction, not bifurcated, but terminating in a tubercle to which the lower end of the ligamentum nuchae is attached. The seventh cervical vertebra (C7) has the most prominent spinous process only in about 70% of people; in the remainder, either C6 or T1 (the first thoracic vertebra) will be the most prominent. The transverse processes are of considerable size, their posterior roots are large and prominent, while the anterior are small and faintly marked; the upper surface of each has usually a shallow sulcus for the eighth spinal nerve, and its extremity seldom presents more than a trace of bifurcation. The foramen transversarium may be as large as that in the other cervical vertebrae, but is generally smaller on one or both sides; occasionally it is double, sometimes it is absent. On the left side it occasionally gives passage to the vertebral artery; more frequently the vertebral vein traverses it on both sides; but the usual arrangement is for both artery and vein to pass in front of the transverse process, and not through the foramen. Sometimes the anterior root of the transverse process attains a large size and exists as a separate bone, which is known as a cervical rib. MA:0001427|UMLS:C0223176|EMAPA:19467|NCIT:C32245|FMA:12525 hp.json vertebra prominens [C VII]|prominent vertebra|seventh cervical vertebra|cervical vertebra 7|vertebra prominens (CVII)|C7 vertebra http://purl.obolibrary.org/obo/UBERON_0004616 defined_by_ordinal_series GO:0046888 biolink:BiologicalProcess negative regulation of hormone secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a hormone from a cell. hp.json down regulation of hormone secretion|inhibition of hormone secretion|downregulation of hormone secretion|down-regulation of hormone secretion http://purl.obolibrary.org/obo/GO_0046888 HP:0031584 biolink:PhenotypicFeature Tessier number 12 facial cleft There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. hp.json http://purl.obolibrary.org/obo/HP_0031584 GO:0046887 biolink:BiologicalProcess positive regulation of hormone secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a hormone from a cell. hp.json up-regulation of hormone secretion|up regulation of hormone secretion|activation of hormone secretion|stimulation of hormone secretion|upregulation of hormone secretion http://purl.obolibrary.org/obo/GO_0046887 HP:0031585 biolink:PhenotypicFeature Tessier number 13 facial cleft There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. hp.json http://purl.obolibrary.org/obo/HP_0031585 HP:0031586 biolink:PhenotypicFeature Tessier number 14 facial cleft This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. hp.json Tessier facial cleft number 14 http://purl.obolibrary.org/obo/HP_0031586 GO:0010842 biolink:BiologicalProcess retina layer formation The process in which the vertebrate retina is organized into three laminae: the outer nuclear layer (ONL), which contains photoreceptor nuclei; the inner nuclear layer (INL), which contains amacrine, bipolar and horizontal cells; and the retinal ganglion cell (RGC) layer. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells. The inner plexiform layer (IPL) is positioned between the INL and the ganglion cell layer and contains the dendrites of RGCs and processes of bipolar and amacrine cells. Spanning all layers of the retina are the radially oriented Mueller glia. hp.json retinal lamination|retinal layer formation http://purl.obolibrary.org/obo/GO_0010842 GO:0046886 biolink:NamedThing positive regulation of hormone biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0046886 HP:0031587 biolink:PhenotypicFeature Tessier number 30 facial cleft A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. hp.json http://purl.obolibrary.org/obo/HP_0031587 GO:0046885 biolink:NamedThing regulation of hormone biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0046885 HP:0031580 biolink:PhenotypicFeature Tessier number 8 facial cleft The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae. hp.json Tessier facial cleft number 8 http://purl.obolibrary.org/obo/HP_0031580 HP:0031581 biolink:PhenotypicFeature Tessier number 9 facial cleft This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa. hp.json http://purl.obolibrary.org/obo/HP_0031581 GO:0046883 biolink:BiologicalProcess regulation of hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell. hp.json http://purl.obolibrary.org/obo/GO_0046883 HP:0031582 biolink:PhenotypicFeature Tessier number 10 facial cleft In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. hp.json http://purl.obolibrary.org/obo/HP_0031582 HP:0031583 biolink:PhenotypicFeature Tessier number 11 facial cleft An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. hp.json http://purl.obolibrary.org/obo/HP_0031583 GO:0010847 biolink:BiologicalProcess regulation of chromatin assembly Any process the modulates the frequency, rate or extent of chromatin assembly. Chromatin assembly is the assembly of DNA, histone proteins, and other associated proteins into chromatin structure, beginning with the formation of the basic unit, the nucleosome, followed by organization of the nucleosomes into higher order structures, ultimately giving rise to a complex organization of specific domains within the nucleus. hp.json http://purl.obolibrary.org/obo/GO_0010847 CHEBI:35695 biolink:ChemicalSubstance dicarboxylic acid monoanion Any dicarboxylic acid anion that is a monoanion obtained by the deprotonation of only one of the carboxy groups of the dicarboxylic acid. hp.json dicarboxylic acid monoanions http://purl.obolibrary.org/obo/CHEBI_35695 3_STAR HP:0031588 biolink:PhenotypicFeature Unhappy demeanor A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events. hp.json Unhappy demeanour http://purl.obolibrary.org/obo/HP_0031588 HP:0031589 biolink:PhenotypicFeature Suicidal ideation Frequent thinking about or preoccupation with killing oneself. hp.json Suicidality http://purl.obolibrary.org/obo/HP_0031589 GO:0046889 biolink:BiologicalProcess positive regulation of lipid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. hp.json positive regulation of lipogenesis|positive regulation of lipid biosynthesis|positive regulation of lipid synthesis|up regulation of lipid biosynthetic process|positive regulation of lipid formation|stimulation of lipid biosynthetic process|up-regulation of lipid biosynthetic process|activation of lipid biosynthetic process|positive regulation of lipid anabolism|upregulation of lipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046889 UBERON:0004622 biolink:AnatomicalEntity sacral vertebra 1 FMA:13077|MA:0001434|EMAPA:19588|NCIT:C33498|UMLS:C0223598 hp.json first sacral segment|first sacral vertebra|first segment of sacrum|S1 vertebra http://purl.obolibrary.org/obo/UBERON_0004622 defined_by_ordinal_series CHEBI:35692 biolink:ChemicalSubstance dicarboxylic acid Any carboxylic acid containing two carboxy groups. KEGG:C02028 hp.json Dicarboxylic acid|dicarboxylic acids http://purl.obolibrary.org/obo/CHEBI_35692 3_STAR UBERON:0004620 biolink:AnatomicalEntity lumbar vertebra 4 The fourth lumbar vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. FMA:13075|MA:0001431|EMAPA:19572|NCIT:C32902|UMLS:C0223537 hp.json fourth lumbar vertebra|L4 vertebra http://purl.obolibrary.org/obo/UBERON_0004620 defined_by_ordinal_series GO:0071840 biolink:BiologicalProcess cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. hp.json cellular component organisation or biogenesis|cellular component organisation or biogenesis at cellular level|cellular component organization or biogenesis at cellular level http://purl.obolibrary.org/obo/GO_0071840 goslim_metagenomics|goslim_flybase_ribbon UBERON:0004621 biolink:AnatomicalEntity lumbar vertebra 5 The fifth lumbar vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. FMA:13076|MA:0001432|UMLS:C0223552|EMAPA:19573|NCIT:C32903 hp.json fifth lumbar vertebra|L5 vertebra http://purl.obolibrary.org/obo/UBERON_0004621 pheno_slim|defined_by_ordinal_series CHEBI:35693 biolink:ChemicalSubstance dicarboxylic acid anion hp.json dicarboxylic acid anion|dicarboxylic acid anions http://purl.obolibrary.org/obo/CHEBI_35693 3_STAR GO:0046890 biolink:BiologicalProcess regulation of lipid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. hp.json regulation of lipid anabolism|regulation of lipogenesis|regulation of lipid biosynthesis|regulation of lipid synthesis|regulation of lipid formation http://purl.obolibrary.org/obo/GO_0046890 HP:0031590 biolink:PhenotypicFeature Asthenopia Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache. hp.json Eye strain http://purl.obolibrary.org/obo/HP_0031590 HP:0031595 biolink:PhenotypicFeature Abnormal P wave Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria. hp.json http://purl.obolibrary.org/obo/HP_0031595 GO:0044237 biolink:BiologicalProcess cellular metabolic process The chemical reactions and pathways by which individual cells transform chemical substances. hp.json intermediary metabolism|cellular metabolism http://purl.obolibrary.org/obo/GO_0044237 gocheck_do_not_annotate HP:0031596 biolink:PhenotypicFeature Abnormal PR segment An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric. hp.json http://purl.obolibrary.org/obo/HP_0031596 HP:0031597 biolink:PhenotypicFeature PR segment elevation An increase in voltage of the PR segment above baseline. hp.json PTa elevation|PR interval elevation http://purl.obolibrary.org/obo/HP_0031597 HP:0031598 biolink:PhenotypicFeature Notched P wave V-shaped cut (notch) in the middle of the P wave. hp.json http://purl.obolibrary.org/obo/HP_0031598 HP:0031591 biolink:PhenotypicFeature Enlarged Eustachian valve An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava. hp.json Enlarged inferior vena cava valve|Giant Eustachian valve http://purl.obolibrary.org/obo/HP_0031591 HP:0031592 biolink:PhenotypicFeature Situs inversus with levocardia Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia. hp.json http://purl.obolibrary.org/obo/HP_0031592 HP:0031593 biolink:PhenotypicFeature Abnormal PR interval An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds. hp.json http://purl.obolibrary.org/obo/HP_0031593 HP:0031594 biolink:PhenotypicFeature PR segment depression A reduction in voltage of the PR segment below baseline. hp.json PTa depression|PR interval depression http://purl.obolibrary.org/obo/HP_0031594 GO:0140096 biolink:MolecularActivity catalytic activity, acting on a protein Catalytic activity that acts to modify a protein. hp.json http://purl.obolibrary.org/obo/GO_0140096 goslim_generic GO:0140098 biolink:MolecularActivity catalytic activity, acting on RNA Catalytic activity that acts to modify RNA, driven by ATP hydrolysis. hp.json http://purl.obolibrary.org/obo/GO_0140098 goslim_generic HP:0031599 biolink:PhenotypicFeature P mitrale A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II. hp.json http://purl.obolibrary.org/obo/HP_0031599 GO:0044238 biolink:BiologicalProcess primary metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. hp.json primary metabolism http://purl.obolibrary.org/obo/GO_0044238 goslim_pir UBERON:0004613 biolink:AnatomicalEntity mammalian cervical vertebra 4 The fourth of the seven cervical vertebrae[ncit,modified]. UMLS:C0459941|MA:0001424|EMAPA:19434|NCIT:C32242|FMA:12522 hp.json C4 vertebra|fourth cervical vertebra|cervical vertebra 4 http://purl.obolibrary.org/obo/UBERON_0004613 defined_by_ordinal_series|pheno_slim UBERON:0004614 biolink:AnatomicalEntity mammalian cervical vertebra 5 The fifth of the seven cervical vertebrae[ncit,modified]. MA:0001425|EMAPA:19435|NCIT:C32243|FMA:12523|UMLS:C0459943 hp.json cervical vertebra 5|C5 vertebra|fifth cervical vertebra http://purl.obolibrary.org/obo/UBERON_0004614 defined_by_ordinal_series|pheno_slim UBERON:0004611 biolink:AnatomicalEntity rib 12 In humans: The twelfth rib has a single articular facet on the head, which is of rather large size. It has no necks or tubercles, and is pointed at its anterior ends. The twelfth has angle nor costal groove; it is much shorter than the eleventh rib, and its head is inclined slightly downward. Sometimes the twelfth rib is even shorter than the first rib. [WP,unvetted]. UMLS:C1709948|MA:0001412|EMAPA:19540|NCIT:C52767|FMA:8515 hp.json costa XII|twelfth rib http://purl.obolibrary.org/obo/UBERON_0004611 defined_by_ordinal_series|pheno_slim UBERON:0004612 biolink:AnatomicalEntity mammalian cervical vertebra 3 The third of the seven cervical vertebrae[ncit,modified]. MA:0001423|EMAPA:19433|UMLS:C0459939|NCIT:C32241|FMA:12521 hp.json third cervical vertebra of axial skeleton|C3 vertebra|cervical vertebra 3|third cervical vertebra|cervical vertebrae 3 http://purl.obolibrary.org/obo/UBERON_0004612 defined_by_ordinal_series|pheno_slim GO:0010828 biolink:BiologicalProcess positive regulation of glucose transmembrane transport Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json positive regulation of glucose transport http://purl.obolibrary.org/obo/GO_0010828 GO:0010829 biolink:BiologicalProcess negative regulation of glucose transmembrane transport Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json negative regulation of glucose transport http://purl.obolibrary.org/obo/GO_0010829 CHEBI:33019 biolink:ChemicalSubstance diphosphate(3-) A trivalent inorganic anion obtained by removal of all three protons from diphosphoric acid. Beilstein:185088 hp.json hydrogen diphosphate|HP2O7(3-)|diphosphate http://purl.obolibrary.org/obo/CHEBI_33019 3_STAR GO:0010822 biolink:BiologicalProcess positive regulation of mitochondrion organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. hp.json positive regulation of mitochondrion organisation http://purl.obolibrary.org/obo/GO_0010822 GO:0044247 biolink:NamedThing cellular polysaccharide catabolic process hp.json http://purl.obolibrary.org/obo/GO_0044247 GO:0044248 biolink:BiologicalProcess cellular catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. hp.json cellular catabolism|cellular degradation|cellular breakdown http://purl.obolibrary.org/obo/GO_0044248 GO:0010823 biolink:BiologicalProcess negative regulation of mitochondrion organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. hp.json negative regulation of mitochondrion organisation http://purl.obolibrary.org/obo/GO_0010823 GO:0010820 biolink:BiologicalProcess positive regulation of T cell chemotaxis Any process that increases the rate, frequency or extent of T cell chemotaxis. T cell chemotaxis is the directed movement of a T cell in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0010820 PR:P10810 biolink:Protein monocyte differentiation antigen CD14 (mouse) A CD14 molecule that is encoded in the genome of mouse. UniProtKB:P10810 hp.json mCD14|myeloid cell-specific leucine-rich glycoprotein (mouse)|CD14 (mouse)|Cd14 http://purl.obolibrary.org/obo/PR_P10810 GO:0010821 biolink:BiologicalProcess regulation of mitochondrion organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. hp.json regulation of mitochondrion organisation http://purl.obolibrary.org/obo/GO_0010821 GO:0010827 biolink:BiologicalProcess regulation of glucose transmembrane transport Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json regulation of glucose transport http://purl.obolibrary.org/obo/GO_0010827 CHEBI:23690 biolink:ChemicalSubstance dicarboxylic acid amide hp.json dicarboxylic acid amides http://purl.obolibrary.org/obo/CHEBI_23690 3_STAR GO:0071869 biolink:BiologicalProcess response to catecholamine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a catecholamine stimulus. A catecholamine is any of a group of biogenic amines that includes 4-(2-aminoethyl)pyrocatechol [4-(2-aminoethyl)benzene-1,2-diol] and derivatives formed by substitution. hp.json response to catecholamine stimulus http://purl.obolibrary.org/obo/GO_0071869 CHEBI:33017 biolink:ChemicalSubstance diphosphate(1-) A monovalent inorganic anion obtained by deprotonation of one of the phosphate OH groups in diphosphoric acid. Gmelin:185086 hp.json trihydrogen diphosphate|H3P2O7(-) http://purl.obolibrary.org/obo/CHEBI_33017 3_STAR GO:0071868 biolink:BiologicalProcess cellular response to monoamine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monoamine stimulus. A monoamine is any of a group of molecular messengers that contain one amino group that is connected to an aromatic ring by ethylene group (-CH2-CH2-). Monoamines are derived from the aromatic amino acids phenylalanine, tyrosine, histidine and tryptophan. hp.json http://purl.obolibrary.org/obo/GO_0071868 GO:0044249 biolink:BiologicalProcess cellular biosynthetic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. hp.json cellular biosynthesis|cellular anabolism|cellular synthesis|cellular formation http://purl.obolibrary.org/obo/GO_0044249 CHEBI:35679 biolink:ChemicalSubstance antilipemic drug A substance used to treat hyperlipidemia (an excess of lipids in the blood). Wikipedia:Hypolipidemic_agent hp.json antihyperlipidemic drugs|antihyperlipidemic agents|antihyperlipemics|antilipemic drugs|antihyperlipidemic|lipid-lowering agent|hypolipidemic agent|antihyperlipidaemic agent|antilipemic|lipid-lowering drugs|antihyperlipidaemic drugs|antihyperlipidaemic drug|antilipemics|lipid-lowering drug|antihyperlipidaemic agents|lipid-lowering agents|hypolipidemic agents|antihyperlipidemics|antihyperlipemic|antihyperlipidemic agent|antihyperlipidemic drug http://purl.obolibrary.org/obo/CHEBI_35679 3_STAR GO:0071867 biolink:BiologicalProcess response to monoamine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monoamine stimulus. A monoamine is any of a group of molecular messengers that contain one amino group that is connected to an aromatic ring by ethylene group (-CH2-CH2-). Monoamines are derived from the aromatic amino acids phenylalanine, tyrosine, histidine and tryptophan. hp.json response to monoamine stimulus http://purl.obolibrary.org/obo/GO_0071867 UBERON:0004601 biolink:AnatomicalEntity rib 1 The first rib of the rib cage. MA:0001401|FMA:7597|NCIT:C52770|UMLS:C1709945|EMAPA:19529 hp.json first rib|costa I|costa prima (I)|costa prima [I]|costa prima http://purl.obolibrary.org/obo/UBERON_0004601 defined_by_ordinal_series|pheno_slim NBO:0000086 biolink:NamedThing novelty response behavior "Behavior related to the exploration/investigation of a novel object, situation or environment." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000086 CHEBI:59644 biolink:ChemicalSubstance oxo fatty acid Any fatty acid containing at least one aldehydic or ketonic group in addition to the carboxylic acid group. PMID:8454196|PMID:6434570|PMID:8638935 hp.json oxo fatty acids http://purl.obolibrary.org/obo/CHEBI_59644 3_STAR NBO:0000085 biolink:NamedThing depression behavior "Emotional behavior related to a state of low mood and aversion to activity." [wikipedia:Depression] hp.json depression related behaviour http://purl.obolibrary.org/obo/NBO_0000085 GO:0010839 biolink:BiologicalProcess negative regulation of keratinocyte proliferation Any process that decreases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/GO_0010839 GO:0010831 biolink:BiologicalProcess positive regulation of myotube differentiation Any process that activates, maintains or increases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. hp.json http://purl.obolibrary.org/obo/GO_0010831 GO:0010832 biolink:BiologicalProcess negative regulation of myotube differentiation Any process that decreases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. hp.json http://purl.obolibrary.org/obo/GO_0010832 GO:0010837 biolink:BiologicalProcess regulation of keratinocyte proliferation Any process that modulates the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/GO_0010837 GO:0010838 biolink:BiologicalProcess positive regulation of keratinocyte proliferation Any process that increases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. hp.json http://purl.obolibrary.org/obo/GO_0010838 GO:0044255 biolink:BiologicalProcess cellular lipid metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. hp.json cellular lipid metabolism http://purl.obolibrary.org/obo/GO_0044255 goslim_pir NBO:0000094 biolink:NamedThing fear behavior towards situation/environment "An emotional behavior related to a feeling of uneasiness or nervousness in respect to a particular situation or environment." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000094 NBO:0000092 biolink:NamedThing anxiety-related behavior "An emotional behavior related to a feeling of uneasiness or nervousness triggered by an identifiable triggering stimulus." [NBO:GVG] hp.json anxiety-related behaviour http://purl.obolibrary.org/obo/NBO_0000092 NBO:0000091 biolink:NamedThing fear-related behavior "An emotional behavior related to a feeling of uneasiness or nervousness triggered by a specified triggering stimulus such as pain or the threat of danger." [NBO:GVG] hp.json fear-related behaviour http://purl.obolibrary.org/obo/NBO_0000091 GO:0010830 biolink:BiologicalProcess regulation of myotube differentiation Any process that modulates the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. hp.json http://purl.obolibrary.org/obo/GO_0010830 CHEBI:35681 biolink:ChemicalSubstance secondary alcohol A secondary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has two other carbon atoms attached to it. KEGG:C01612|KEGG:C00432 hp.json a secondary alcohol|secondary alcohols|R-CHOH-R'|Secondary alcohol http://purl.obolibrary.org/obo/CHEBI_35681 3_STAR NBO:0000097 biolink:NamedThing response to novel environment "Behavior related to the exploration/investigation of a novel environment." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000097 NBO:0000096 biolink:NamedThing agoraphobia behavior "A phobia characterised by fear of open spaces." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000096 HP:0031540 biolink:PhenotypicFeature Linear IgG deposits along the epidermal basement membrane zone Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. hp.json http://purl.obolibrary.org/obo/HP_0031540 HP:0031541 biolink:PhenotypicFeature Linear C3 deposits along the epidermal basement membrane zone Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. hp.json http://purl.obolibrary.org/obo/HP_0031541 HP:0031542 biolink:PhenotypicFeature Myelin-like whorls in vacuolated fibers Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner. hp.json Myelin-like whorls in vacuolated fibres http://purl.obolibrary.org/obo/HP_0031542 GO:0032272 biolink:BiologicalProcess negative regulation of protein polymerization Any process that stops, prevents, or reduces the frequency, rate or extent of the process of creating protein polymers. hp.json inhibition of protein polymerization|down-regulation of protein polymerization|downregulation of protein polymerization|down regulation of protein polymerization http://purl.obolibrary.org/obo/GO_0032272 HP:0031548 biolink:PhenotypicFeature Follicular infundibulum tumor A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma. hp.json Basal cell hamartoma with follicular differentiation|Follicular infundibulum tumour http://purl.obolibrary.org/obo/HP_0031548 HP:0031549 biolink:PhenotypicFeature Lymphocytoma cutis Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis. hp.json Spiegler-Fendt sarcoid|Skin pseudolymphoma http://purl.obolibrary.org/obo/HP_0031549 GO:0032271 biolink:BiologicalProcess regulation of protein polymerization Any process that modulates the frequency, rate or extent of the process of creating protein polymers. hp.json regulation of protein polymerisation http://purl.obolibrary.org/obo/GO_0032271 GO:0032270 biolink:BiologicalProcess positive regulation of cellular protein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. hp.json positive regulation of cellular protein metabolism|upregulation of cellular protein metabolic process|up regulation of cellular protein metabolic process|stimulation of cellular protein metabolic process|up-regulation of cellular protein metabolic process|activation of cellular protein metabolic process http://purl.obolibrary.org/obo/GO_0032270 HP:0006577 biolink:PhenotypicFeature Macronodular cirrhosis A type of cirrhosis characterized by the presence of large regenerative nodules. UMLS:C2004456|SNOMEDCT_US:86454000|SNOMEDCT_US:43904005 hp.json http://purl.obolibrary.org/obo/HP_0006577 HP:0031544 biolink:PhenotypicFeature Elevated circulating palmitoleylcarnitine concentration An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency. hp.json Elevated plasma palmitoleylcarnitine, C16:1|Elevated plasma propionylcarnitine, C3:0|Elevated circulating O-propionylcarnitine concentration|Elevated propionylcarnitine level http://purl.obolibrary.org/obo/HP_0031544 HP:0031545 biolink:PhenotypicFeature Abnormally low T cell receptor excision circle level Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. hp.json http://purl.obolibrary.org/obo/HP_0031545 HP:0031546 biolink:PhenotypicFeature Cardiac conduction abnormality Any anomaly of the progression of electrical impulses through the heart. hp.json Abnormality of cardiac conduction system|Heart conduction disorder|Cardiac conduction abnormalities|Cardiac conduction defects|Abnormality of cardiac conduction http://purl.obolibrary.org/obo/HP_0031546 HP:0006579 biolink:PhenotypicFeature Prolonged neonatal jaundice Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. SNOMEDCT_US:387712008|MSH:D007567|UMLS:C0022353|UMLS:C1859236 hp.json Jaundice, neonatal|Prolonged yellowing of skin in newborn|Neonatal jaundice http://purl.obolibrary.org/obo/HP_0006579 HP:0031547 biolink:PhenotypicFeature Abnormal QT interval Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). hp.json http://purl.obolibrary.org/obo/HP_0031547 HP:0006573 biolink:PhenotypicFeature Acute hepatic steatosis An acute form of hepatic steatosis. UMLS:C4025020 hp.json Acute fatty liver http://purl.obolibrary.org/obo/HP_0006573 HP:0006574 biolink:PhenotypicFeature Hepatic arteriovenous malformation SNOMEDCT_US:84150000|UMLS:C0520557 hp.json Liver arteriovenous malformation http://purl.obolibrary.org/obo/HP_0006574 HP:0006575 biolink:PhenotypicFeature Intrahepatic cholestasis with episodic jaundice UMLS:C4025019 hp.json http://purl.obolibrary.org/obo/HP_0006575 HP:0006576 biolink:PhenotypicFeature Hepatic vascular malformations UMLS:C1861790 hp.json Liver vascular malformations http://purl.obolibrary.org/obo/HP_0006576 HP:0006571 biolink:PhenotypicFeature Reduced number of intrahepatic bile ducts The presence of reduced numbers of intrahepatic bile duct than normal. UMLS:C4021591|UMLS:C1861621 hp.json Intrahepatic duct deficiency|Hepatic ductopenia http://purl.obolibrary.org/obo/HP_0006571 GO:0032273 biolink:BiologicalProcess positive regulation of protein polymerization Any process that activates or increases the frequency, rate or extent of the process of creating protein polymers. hp.json upregulation of protein polymerization|up regulation of protein polymerization|stimulation of protein polymerization|up-regulation of protein polymerization|activation of protein polymerization http://purl.obolibrary.org/obo/GO_0032273 HP:0006572 biolink:PhenotypicFeature Subacute progressive viral hepatitis UMLS:C1861901 hp.json http://purl.obolibrary.org/obo/HP_0006572 HP:0006590 biolink:PhenotypicFeature Premature sternal synostosis Prematurely closed sternal sutures. UMLS:C4021590 hp.json Prematurely closed sternal sutures http://purl.obolibrary.org/obo/HP_0006590 HP:0031551 biolink:PhenotypicFeature Reduced cell surface marker level Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031551 HP:0031552 biolink:PhenotypicFeature Reduced fibroblast surface marker level Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031552 HP:0031553 biolink:PhenotypicFeature Reduced granulocyte surface marker level Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031553 HP:0031554 biolink:PhenotypicFeature Reduced granulocyte CD55 level Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031554 HP:0031550 biolink:PhenotypicFeature Abnormal flow cytometry test result Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules. hp.json http://purl.obolibrary.org/obo/HP_0031550 HP:0031559 biolink:PhenotypicFeature Reduced fibroblast CD16 level Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031559 HP:0031555 biolink:PhenotypicFeature Reduced granulocyte CD59 level Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031555 HP:0006589 biolink:PhenotypicFeature Flaring of lower rib cage UMLS:C1855196 hp.json Flaring of lower rib cage http://purl.obolibrary.org/obo/HP_0006589 HP:0031556 biolink:PhenotypicFeature Reduced granulocyte CD16 level Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031556 HP:0031557 biolink:PhenotypicFeature Reduced fibroblast CD55 level Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031557 HP:0031558 biolink:PhenotypicFeature Reduced fibroblast CD59 level Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry. hp.json http://purl.obolibrary.org/obo/HP_0031558 HP:0006584 biolink:PhenotypicFeature Small abnormally formed scapulae UMLS:C1861226 hp.json Small abnormally formed scapula|Small abnormally formed shoulder blade http://purl.obolibrary.org/obo/HP_0006584 GO:0032269 biolink:BiologicalProcess negative regulation of cellular protein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. hp.json downregulation of cellular protein metabolic process|down regulation of cellular protein metabolic process|inhibition of cellular protein metabolic process|down-regulation of cellular protein metabolic process|negative regulation of cellular protein metabolism http://purl.obolibrary.org/obo/GO_0032269 HP:0006585 biolink:PhenotypicFeature Congenital pseudoarthrosis of the clavicle The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. UMLS:C0426811|SNOMEDCT_US:249690001|SNOMEDCT_US:249685004|UMLS:C0426806 hp.json Pseudoarthrosis of clavicle|Clavicle pseudoarthrosis|Bipartite clavicle http://purl.obolibrary.org/obo/HP_0006585 GO:0032268 biolink:BiologicalProcess regulation of cellular protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. hp.json regulation of cellular protein metabolism http://purl.obolibrary.org/obo/GO_0032268 HP:0006587 biolink:PhenotypicFeature Straight clavicles An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . UMLS:C4025016 hp.json Straight collarbone http://purl.obolibrary.org/obo/HP_0006587 HP:0006580 biolink:PhenotypicFeature Portal fibrosis Fibroblast proliferation and fiber expansion from the portal areas to the lobule. UMLS:C2677002|UMLS:C3805083 hp.json Portal fibrosis shown on biopsy http://purl.obolibrary.org/obo/HP_0006580 HP:0006581 biolink:PhenotypicFeature Depletion of mitochondrial DNA in liver An abnormal reduction in the number of mitochondria in hepatocytes. UMLS:C4025018 hp.json http://purl.obolibrary.org/obo/HP_0006581 HP:0006582 biolink:PhenotypicFeature Reye syndrome-like episodes Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure. UMLS:C1850413 hp.json http://purl.obolibrary.org/obo/HP_0006582 HP:0006583 biolink:PhenotypicFeature Fatal liver failure in infancy UMLS:C4025017 hp.json Fatal liver failure in infancy http://purl.obolibrary.org/obo/HP_0006583 HP:0031562 biolink:PhenotypicFeature Balanced double aortic arch A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch. Fyler:2780 hp.json http://purl.obolibrary.org/obo/HP_0031562 HP:0031563 biolink:PhenotypicFeature Coronary arteriovenous fistula An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation. Fyler:2240 hp.json http://purl.obolibrary.org/obo/HP_0031563 HP:0031564 biolink:PhenotypicFeature Bronchial isomerism An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism). hp.json http://purl.obolibrary.org/obo/HP_0031564 HP:0031565 biolink:PhenotypicFeature Abdominal situs ambiguus An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. Fyler:3817 hp.json http://purl.obolibrary.org/obo/HP_0031565 HP:0031560 biolink:PhenotypicFeature Coronary cameral fistula An abnormal communication between coronary artery and a cardiac chamber. Fyler:2233 hp.json http://purl.obolibrary.org/obo/HP_0031560 HP:0031561 biolink:PhenotypicFeature Coronary cameral fistula to right ventricle An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle. hp.json http://purl.obolibrary.org/obo/HP_0031561 HP:0006559 biolink:PhenotypicFeature Hepatic calcification The presence of abnormal calcium deposition in the liver. UMLS:C1696466 hp.json Liver calcifications http://purl.obolibrary.org/obo/HP_0006559 HP:0031566 biolink:PhenotypicFeature Abnormal pulmonary valve cusp morphology Any structural anomaly of the pulmonary valve leaflets. Fyler:1652 hp.json http://purl.obolibrary.org/obo/HP_0031566 HP:0006555 biolink:PhenotypicFeature Diffuse hepatic steatosis A diffuse form of hepatic steatosis. UMLS:C1849686 hp.json Hepatic steatosis, diffuse http://purl.obolibrary.org/obo/HP_0006555 HP:0031567 biolink:PhenotypicFeature Abnormal aortic valve cusp morphology Any structural anomaly of the aortic valve leaflets. Fyler:1480 hp.json http://purl.obolibrary.org/obo/HP_0031567 HP:0006557 biolink:PhenotypicFeature Polycystic liver disease SNOMEDCT_US:72925005|UMLS:C0158683|MSH:C536330 hp.json http://purl.obolibrary.org/obo/HP_0006557 HP:0031568 biolink:PhenotypicFeature Thickened aortic valve cusp An abnormally increased thickness of a leaflet of the aortic valve. Fyler:1486 hp.json http://purl.obolibrary.org/obo/HP_0031568 HP:0031569 biolink:PhenotypicFeature Absent aortic valve cusps A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. Fyler:1484 hp.json Absent aortic valve http://purl.obolibrary.org/obo/HP_0031569 HP:0006558 biolink:PhenotypicFeature Decreased mitochondrial complex III activity in liver tissue Decreased activity of complex III of the mitochondrion in the liver. UMLS:C4025022 hp.json http://purl.obolibrary.org/obo/HP_0006558 HP:0006552 biolink:PhenotypicFeature Fibrocystic lung disease UMLS:C1397290 hp.json http://purl.obolibrary.org/obo/HP_0006552 HP:0006554 biolink:PhenotypicFeature Acute hepatic failure Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. MSH:D017114|SNOMEDCT_US:197270009|SNOMEDCT_US:235884008|UMLS:C0162557 hp.json Acute liver failure http://purl.obolibrary.org/obo/HP_0006554 GO:0032252 biolink:BiologicalProcess secretory granule localization Any process in which a secretory granule is transported to, and/or maintained in, a specific location within the cell. hp.json secretory granule clustering|secretory granule localisation http://purl.obolibrary.org/obo/GO_0032252 HP:0031573 biolink:PhenotypicFeature Tessier number 2 facial cleft As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. hp.json http://purl.obolibrary.org/obo/HP_0031573 HP:0031574 biolink:PhenotypicFeature Orbital cleft A facial cleft characterized by involvement of the orbit. hp.json http://purl.obolibrary.org/obo/HP_0031574 HP:0031575 biolink:PhenotypicFeature Tessier number 3 facial cleft As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced. hp.json http://purl.obolibrary.org/obo/HP_0031575 HP:0031576 biolink:PhenotypicFeature Tessier number 4 facial cleft The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly. hp.json http://purl.obolibrary.org/obo/HP_0031576 HP:0031570 biolink:PhenotypicFeature Tessier number 0 facial cleft A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension. hp.json Tessier facial cleft number 0 http://purl.obolibrary.org/obo/HP_0031570 HP:0031571 biolink:PhenotypicFeature Paramedian facial cleft A type of facial cleft located near to but not directly on the midline of the face. hp.json http://purl.obolibrary.org/obo/HP_0031571 HP:0031572 biolink:PhenotypicFeature Tessier number 1 facial cleft As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly. hp.json http://purl.obolibrary.org/obo/HP_0031572 HP:0031577 biolink:PhenotypicFeature Tessier number 5 facial cleft The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium. hp.json http://purl.obolibrary.org/obo/HP_0031577 HP:0006566 biolink:PhenotypicFeature Neonatal cholestatic liver disease UMLS:C1859162 hp.json http://purl.obolibrary.org/obo/HP_0006566 HP:0031578 biolink:PhenotypicFeature Tessier number 6 facial cleft A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid. hp.json Tessier facial cleft number 6 http://purl.obolibrary.org/obo/HP_0031578 HP:0006568 biolink:PhenotypicFeature Increased hepatic glycogen content An increase in the amount of glycogen stored in hepatocytes compared to normal. UMLS:C1856285 hp.json Increased liver glycogen content http://purl.obolibrary.org/obo/HP_0006568 HP:0031579 biolink:PhenotypicFeature Tessier number 7 facial cleft The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. hp.json Tessier cleft number 7|Tessier facial cleft number 7 http://purl.obolibrary.org/obo/HP_0031579 HP:0006562 biolink:PhenotypicFeature Viral hepatitis Inflammation of the liver due to infection with a virus. SNOMEDCT_US:3738000|UMLS:C0042721 hp.json http://purl.obolibrary.org/obo/HP_0006562 HP:0006563 biolink:PhenotypicFeature Malformation of the hepatic ductal plate UMLS:C1857519 hp.json http://purl.obolibrary.org/obo/HP_0006563 HP:0006564 biolink:PhenotypicFeature Fluctuating hepatomegaly Intermittently increased size of the liver. UMLS:C1835881 hp.json http://purl.obolibrary.org/obo/HP_0006564 HP:0006565 biolink:PhenotypicFeature Increased hepatocellular lipid droplets An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. UMLS:C4025021 hp.json http://purl.obolibrary.org/obo/HP_0006565 GO:0032241 biolink:BiologicalProcess positive regulation of nucleobase-containing compound transport Any process that activates or increases the frequency, rate or extent of the directed movement of nucleobases, nucleosides, nucleotides and nucleic acids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|up regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|activation of nucleobase, nucleoside, nucleotide and nucleic acid transport|stimulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|upregulation of nucleobase, nucleoside, nucleotide and nucleic acid transport http://purl.obolibrary.org/obo/GO_0032241 HP:0006560 biolink:PhenotypicFeature Biliary hyperplasia Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. UMLS:C3672440|UMLS:C3686778 hp.json Bile duct hyperplasia http://purl.obolibrary.org/obo/HP_0006560 GO:0032240 biolink:BiologicalProcess negative regulation of nucleobase-containing compound transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of nucleobases, nucleosides, nucleotides and nucleic acids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json inhibition of nucleobase, nucleoside, nucleotide and nucleic acid transport|downregulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|down regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport http://purl.obolibrary.org/obo/GO_0032240 HP:0006561 biolink:PhenotypicFeature Lipid accumulation in hepatocytes UMLS:C1837257 hp.json http://purl.obolibrary.org/obo/HP_0006561 NBO:0000018 biolink:NamedThing fear/anxiety related behavior "Emotional behavior related to fear or anxiety." [NBO:GVG] hp.json fear/anxiety related behaviour http://purl.obolibrary.org/obo/NBO_0000018 GO:0032239 biolink:BiologicalProcess regulation of nucleobase-containing compound transport Any process that modulates the frequency, rate or extent of the directed movement of nucleobases, nucleosides, nucleotides and nucleic acids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport http://purl.obolibrary.org/obo/GO_0032239 NBO:0000015 biolink:NamedThing aggressive behavior "A behavioral interaction between organisms in which one organism has the intention of inflicting damage on another individual using physical or verbal means." [wikipedia:Aggression] hp.json aggression|aggressive behaviour|agonism http://purl.obolibrary.org/obo/NBO_0000015 GO:0007276 biolink:BiologicalProcess gamete generation The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. hp.json gametogenesis http://purl.obolibrary.org/obo/GO_0007276 GO:0007275 biolink:BiologicalProcess multicellular organism development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). hp.json http://purl.obolibrary.org/obo/GO_0007275 gocheck_do_not_annotate|goslim_plant|goslim_chembl GO:0007274 biolink:BiologicalProcess neuromuscular synaptic transmission The process of synaptic transmission from a neuron to a muscle, across a synapse. hp.json http://purl.obolibrary.org/obo/GO_0007274 GO:0007283 biolink:BiologicalProcess spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. Wikipedia:Spermatogenesis hp.json generation of spermatozoa http://purl.obolibrary.org/obo/GO_0007283 HP:0031504 biolink:PhenotypicFeature Foamy urine Urine has an increased amount of frothy fine bubbles. hp.json Frothy urine http://purl.obolibrary.org/obo/HP_0031504 HP:0031505 biolink:PhenotypicFeature Abnormal circulating T4 concentration A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). hp.json Abnormal circulating T4 level|Abnormal circulating thyroxine level http://purl.obolibrary.org/obo/HP_0031505 HP:0031506 biolink:PhenotypicFeature Increased circulating T4 concentration An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). hp.json Increased circulating thyroxine level|Increased circulating T4 level http://purl.obolibrary.org/obo/HP_0031506 GO:0007281 biolink:BiologicalProcess germ cell development The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. hp.json primordial germ cell development|germ-cell development http://purl.obolibrary.org/obo/GO_0007281 HP:0031507 biolink:PhenotypicFeature Decreased circulating T4 concentration A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). hp.json Reduced T4 plasma level|Decreased circulating T4 level|Decreased circulating thyroxine level http://purl.obolibrary.org/obo/HP_0031507 HP:0031500 biolink:PhenotypicFeature Abdominal mass An abnormal enlargement or swelling in the abdomen. hp.json http://purl.obolibrary.org/obo/HP_0031500 HP:0031501 biolink:PhenotypicFeature Pelvic mass An abnormal enlargement or swelling in the pelvic region. hp.json http://purl.obolibrary.org/obo/HP_0031501 HP:0031502 biolink:PhenotypicFeature Trophoblastic tumor A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]. hp.json Trophoblastic tumour http://purl.obolibrary.org/obo/HP_0031502 HP:0031503 biolink:PhenotypicFeature Night gasping Waking up at night gasping for breath. hp.json http://purl.obolibrary.org/obo/HP_0031503 NBO:0000024 biolink:NamedThing sleeping behavior "Behavior related to the readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000024 HP:0031508 biolink:PhenotypicFeature Abnormal circulating thyroid hormone concentration Any deviation from the normal range of the hormones produced by the thyroid gland. hp.json Abnormal thyroid hormone level http://purl.obolibrary.org/obo/HP_0031508 HP:0031509 biolink:PhenotypicFeature Dry nipple Abnormally dry skin in the area of the nipple of the breast. hp.json http://purl.obolibrary.org/obo/HP_0031509 HP:0031510 biolink:PhenotypicFeature Linear earlobe crease A transverse linear fissure (crease) in the lobule of the ear. hp.json http://purl.obolibrary.org/obo/HP_0031510 GO:0007286 biolink:NamedThing spermatid development hp.json http://purl.obolibrary.org/obo/GO_0007286 HP:0031515 biolink:PhenotypicFeature Abnormal meiosis Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells. hp.json http://purl.obolibrary.org/obo/HP_0031515 HP:0031516 biolink:PhenotypicFeature Oocyte arrest at metaphase I Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. hp.json Metaphase I oocyte meiotic arrest|Oocyte meiotic arrest at metaphase I http://purl.obolibrary.org/obo/HP_0031516 GO:0007293 biolink:BiologicalProcess germarium-derived egg chamber formation Construction of a stage-1 egg chamber in the anterior part of the germarium, from the progeny of germ-line and somatic stem cells. An example of this is found in Drosophila melanogaster. hp.json http://purl.obolibrary.org/obo/GO_0007293 HP:0031517 biolink:PhenotypicFeature Verruciform xanthoma A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms. hp.json http://purl.obolibrary.org/obo/HP_0031517 GO:0007292 biolink:BiologicalProcess female gamete generation Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction. hp.json http://purl.obolibrary.org/obo/GO_0007292 HP:0031518 biolink:PhenotypicFeature Absent posterior alpha rhythm Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. hp.json http://purl.obolibrary.org/obo/HP_0031518 HP:0031511 biolink:PhenotypicFeature Diagonal earlobe crease Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees. hp.json http://purl.obolibrary.org/obo/HP_0031511 HP:0031512 biolink:PhenotypicFeature Abnormal cutaneous collagen fibril morphology hp.json http://purl.obolibrary.org/obo/HP_0031512 HP:0031513 biolink:PhenotypicFeature Luse bodies Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands. hp.json http://purl.obolibrary.org/obo/HP_0031513 CHEBI:142767 biolink:ChemicalSubstance alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc-yl group A beta-D-glucosyl group derived from the trisaccharide N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose. Implied reactive epitope within ganglioside GM3. PMID:7534889 hp.json 5-acetamido-3,5-dideoxy-D-glycero-alpha-D-galacto-non-2-ulopyranonosyl-(2->3)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl|alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl|Neu5Acalpha2-3Galbeta1-4Glcbeta-yl|3'-sialyllactosyl|alpha-Neu5Ac-(2->3)-beta-D-Galp-(1->4)-beta-D-Glcp-yl http://purl.obolibrary.org/obo/CHEBI_142767 3_STAR HP:0031514 biolink:PhenotypicFeature Increased proportion of exhausted T cells An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. hp.json http://purl.obolibrary.org/obo/HP_0031514 HP:0031519 biolink:PhenotypicFeature Cauliflower deformity of dermal collagen fibrils An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy. hp.json http://purl.obolibrary.org/obo/HP_0031519 NBO:0000032 biolink:NamedThing paralysis "Loss of power of voluntary movement in a muscle through injury or disease of its nerve supply." [JAX:] hp.json http://purl.obolibrary.org/obo/NBO_0000032 NBO:0000030 biolink:NamedThing hyperactivity "A kinesthetic behavior which relatively increased." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0000030 HP:0031520 biolink:PhenotypicFeature Groin pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region. hp.json http://purl.obolibrary.org/obo/HP_0031520 HP:0031521 biolink:PhenotypicFeature Vaginal clear cell adenocarcinoma A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm. hp.json Clear cell adenocarcinoma of the vagina http://purl.obolibrary.org/obo/HP_0031521 HP:0031526 biolink:PhenotypicFeature Subretinal fluid Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane. hp.json Sub-retinal fluid http://purl.obolibrary.org/obo/HP_0031526 HP:0031527 biolink:PhenotypicFeature Intraretinal fluid Edema/fluid accumulating within the retinal layers. hp.json Intra-retinal fluid http://purl.obolibrary.org/obo/HP_0031527 HP:0031528 biolink:PhenotypicFeature Subretinal deposits Deposits accumulating between the outer retina and the retinal pigment epithelium. hp.json http://purl.obolibrary.org/obo/HP_0031528 HP:0031529 biolink:PhenotypicFeature Focal subretinal deposits Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution. hp.json http://purl.obolibrary.org/obo/HP_0031529 HP:0006599 biolink:PhenotypicFeature Medial widening of clavicles UMLS:C1866729 hp.json http://purl.obolibrary.org/obo/HP_0006599 HP:0031522 biolink:PhenotypicFeature Cervical clear cell adenocarcinoma A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm. hp.json Clear cell carcinoma of cervix http://purl.obolibrary.org/obo/HP_0031522 HP:0031523 biolink:PhenotypicFeature Salivary gland oncocytoma A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria) hp.json Parotid oncocytoma http://purl.obolibrary.org/obo/HP_0031523 HP:0031524 biolink:PhenotypicFeature Ampulla of Vater carcinoma A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct. hp.json http://purl.obolibrary.org/obo/HP_0031524 HP:0031525 biolink:PhenotypicFeature Keratoacanthoma Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. hp.json http://purl.obolibrary.org/obo/HP_0031525 HP:0006595 biolink:PhenotypicFeature Scapulohumeral synostosis Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. UMLS:C1865362 hp.json Synostosis of shoulder joint|Humero-scapulo synostosis|Fusion of shoulder blade to long bone in upper arm|Humeroscapular synostosis http://purl.obolibrary.org/obo/HP_0006595 NBO:0000003 biolink:NamedThing emotional behavior "Behavior related to the complex psychophysiological experience of an individual's state of mind as interacting with biochemical (internal) and environmental (external) influences." [wikipedia:Emotions] hp.json mood|affective behaviour http://purl.obolibrary.org/obo/NBO_0000003 HP:0006596 biolink:PhenotypicFeature Restricted chest movement UMLS:C4025015 hp.json Restricted chest movement http://purl.obolibrary.org/obo/HP_0006596 NBO:0000001 biolink:NamedThing body part movement A change of place or position of part of an organism that does not involve the entire organism [NBO:SMAC] hp.json stationary movement http://purl.obolibrary.org/obo/NBO_0000001 HP:0006597 biolink:PhenotypicFeature Diaphragmatic paralysis The presence of a paralyzed diaphragm. UMLS:C0035232|SNOMEDCT_US:64228003|MSH:D012133 hp.json Paralysed diaphragm|Paralyzed diaphragm|Diaphragmatic paralysis http://purl.obolibrary.org/obo/HP_0006597 HP:0006598 biolink:PhenotypicFeature Irregular ossification at anterior rib ends UMLS:C1850083 hp.json http://purl.obolibrary.org/obo/HP_0006598 HP:0006591 biolink:PhenotypicFeature Absent glenoid fossa Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. UMLS:C4021589 hp.json Aplasia of the glenoid fossa http://purl.obolibrary.org/obo/HP_0006591 GO:0019230 biolink:BiologicalProcess proprioception The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors. Wikipedia:Proprioception hp.json http://purl.obolibrary.org/obo/GO_0019230 HP:0006593 biolink:PhenotypicFeature Anomalous rib insertion to vertebrae UMLS:C1861704 hp.json http://purl.obolibrary.org/obo/HP_0006593 NBO:0000009 biolink:NamedThing locomotory behavior phenotype "Observable characteristic of behavior associated with the specific movement from place to place of an organism." [NBO:GVG] hp.json pathological locomotory behaviour http://purl.obolibrary.org/obo/NBO_0000009 NBO:0000008 biolink:NamedThing rhythmic behavior hp.json http://purl.obolibrary.org/obo/NBO_0000008 NBO:0000007 biolink:NamedThing mouth movement The act of moving any of the tissues and hard structures surrounding the mouth other than teeth, jaws or filter structures [NBO:AC] hp.json mouth part movement|other moved mouth parts http://purl.obolibrary.org/obo/NBO_0000007 NBO:0000006 biolink:NamedThing learning and/or memory behavior "Behavior related to the acquisition and processing of information and/or the storage and retrieval of this information over time." [GO:jic] hp.json learning and/or memory behaviour http://purl.obolibrary.org/obo/NBO_0000006 HP:0031530 biolink:PhenotypicFeature Multifocal subretinal deposits Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci. hp.json http://purl.obolibrary.org/obo/HP_0031530 GO:0007268 biolink:BiologicalProcess chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. Wikipedia:Neurotransmission hp.json synaptic transmission|signal transmission across a synapse|neurotransmission http://purl.obolibrary.org/obo/GO_0007268 goslim_synapse GO:0007267 biolink:BiologicalProcess cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. hp.json cell-cell signalling http://purl.obolibrary.org/obo/GO_0007267 goslim_plant|goslim_chembl HP:0031531 biolink:PhenotypicFeature Sub-RPE deposits Deposits accumulating between the retinal pigment epithelium and Bruch's membrane. hp.json http://purl.obolibrary.org/obo/HP_0031531 HP:0031532 biolink:PhenotypicFeature Focal sub-RPE deposits Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus. hp.json http://purl.obolibrary.org/obo/HP_0031532 GO:0007272 biolink:BiologicalProcess ensheathment of neurons The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment. hp.json ionic insulation of neurons by glial cells http://purl.obolibrary.org/obo/GO_0007272 HP:0031537 biolink:PhenotypicFeature Anomalous origin of the left circumflex artery from the right coronary artery An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA). hp.json http://purl.obolibrary.org/obo/HP_0031537 HP:0031538 biolink:PhenotypicFeature Abnormal dermoepidermal junction morphology Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. hp.json http://purl.obolibrary.org/obo/HP_0031538 HP:0031539 biolink:PhenotypicFeature Linear IgA deposits along the epidermal basement membrane zone Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. hp.json http://purl.obolibrary.org/obo/HP_0031539 HP:0031533 biolink:PhenotypicFeature Multifocal sub-RPE deposits Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci. hp.json http://purl.obolibrary.org/obo/HP_0031533 HP:0031534 biolink:PhenotypicFeature Passive dorsiflexion of the 5th finger more than 90 degrees An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal. hp.json http://purl.obolibrary.org/obo/HP_0031534 GO:0019249 biolink:BiologicalProcess lactate biosynthetic process The chemical reactions and pathways resulting in the formation of lactate, the anion of lactic acid. hp.json lactate anabolism|lactate biosynthesis|lactate synthesis|lactate formation http://purl.obolibrary.org/obo/GO_0019249 HP:0031535 biolink:PhenotypicFeature Increased theta frequency activity in EEG Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution. hp.json http://purl.obolibrary.org/obo/HP_0031535 HP:0031536 biolink:PhenotypicFeature Separate origin of the left anterior descending and left circumflex artery Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA). hp.json http://purl.obolibrary.org/obo/HP_0031536 NBO:0000011 biolink:NamedThing social behavior "A behavior that occurs predominantly or only, in individuals that are part of a group." [Wikipedia:Social_behavior] hp.json social behaviour http://purl.obolibrary.org/obo/NBO_0000011 GO:0140103 biolink:MolecularActivity catalytic activity, acting on a glycoprotein Catalysis of a biochemical reaction at physiological temperatures in which one of the substrates is a glycoprotein. hp.json http://purl.obolibrary.org/obo/GO_0140103 UBERON:0002085 biolink:AnatomicalEntity interatrial septum A cardiac septum that divides the left and right atria of the heart. EMAPA:17011|NCIT:C32818|OpenCyc:Mx4rwGvku5wpEbGdrcN5Y29ycA|MA:0000084|EHDAA2:0000838|FMA:7108|SCTID:362016003|galen:InteratrialSeptum|VHOG:0000385|Wikipedia:Interatrial_septum|UMLS:C0225836|EHDAA:1896|OpenCyc:Mx4rpd49nLYEEduAAAACs2IKfQ hp.json atrium septum|interatrial septal wall|atrial septum http://purl.obolibrary.org/obo/UBERON_0002085 pheno_slim|uberon_slim UBERON:0002084 biolink:AnatomicalEntity heart left ventricle A cardiac ventricle that is in the left side of the heart. galen:LeftVentricle|NCIT:C12871|CALOHA:TS-0439|EHDAA2:0002178|OpenCyc:Mx4rtW8v46gEEdudWQACs5b6Bw|MA:0000092|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rvVjj1pwpEbGdrcN5Y29ycA|EMAPA:17337|BTO:0001629|UMLS:C0225897|VHOG:0000718|SCTID:244385005|Wikipedia:Left_ventricle|FMA:7101 hp.json ventriculus sinister cordis|left ventricle of heart|ventriculus sinister cordis|left cardiac ventricle|left ventricle|cardiac left ventricle http://purl.obolibrary.org/obo/UBERON_0002084 pheno_slim|human_reference_atlas|uberon_slim UBERON:0002087 biolink:AnatomicalEntity atrioventricular canal The part of the heart connecting the atrium to the cardiac ventricle[ZFA]. In the developing heart, the constriction between the atrium and ventricle constitutes the atrial canal, and indicates the site of the future atrioventricular valves[WP]. XAO:0004123|FMA:71121|EMAPA:16546|ZFA:0001315|VHOG:0001473|TAO:0001315|EHDAA:764 hp.json AVC|ependymal canal|atrial canal|canalis atrioventricularis|AV canal|atrio-ventricular canal http://purl.obolibrary.org/obo/UBERON_0002087 pheno_slim|uberon_slim|vertebrate_core UBERON:0002081 biolink:AnatomicalEntity cardiac atrium Cardiac chamber in which blood enters the heart. ZFA:0000471|FMA:7099|EHDAA:1265|UMLS:C0018792|MESH:D006325|EHDAA2:0000154|MAT:0000496|MA:0000073|TAO:0000471|CALOHA:TS-0437|EFO:0000277|NCIT:C12728|galen:Atrium|EMAPA:16688|GAID:555|VHOG:0000175|BTO:0000903|EV:0100019|Wikipedia:Heart_atrium|SCTID:261405004|AAO:0010246 hp.json cardiac atria|atrial tissue|atria|heart atrium|atrium|atrium of heart http://purl.obolibrary.org/obo/UBERON_0002081 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0002080 biolink:AnatomicalEntity heart right ventricle A cardiac ventricle that is in the right side of the heart. FMA:7098|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvVjj1pwpEbGdrcN5Y29ycA|NCIT:C12870|BTO:0001630|EHDAA2:0000196|MA:0000093|galen:RightVentricle|SCTID:244384009|CALOHA:TS-0443|VHOG:0000717|UMLS:C0225883|Wikipedia:Right_ventricle|OpenCyc:Mx4rRMlc0KgNEdudWQACs5b6Bw|EMAPA:17340 hp.json ventriculus dexter|cardiac right ventricle|right ventricle|ventriculus dexter|right ventricle of heart|right cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0002080 pheno_slim|human_reference_atlas|uberon_slim UBERON:0002082 biolink:AnatomicalEntity cardiac ventricle Cardiac chamber through which blood leaves the heart. Wikipedia:Ventricle_(heart)|MAT:0000497|BTO:0000862|VHOG:0000435|UMLS:C0018827|XAO:0003193|EV:0100020|ZFA:0000009|EHDAA2:0004164|GAID:568|MA:0000091|CALOHA:TS-0444|EHDAA:1912|SCTID:277699000|OpenCyc:Mx4rvVjj1pwpEbGdrcN5Y29ycA|galen:Ventricle|TAO:0000009|MESH:D006352|AAO:0010249|EFO:0000317|EMAPA:17331|NCIT:C12730|FMA:7100 hp.json heart ventricle|ventricle|lower chamber of heart|ventricle of heart http://purl.obolibrary.org/obo/UBERON_0002082 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0002089 biolink:AnatomicalEntity thoracodorsal vein Companion vein of the thoracodorsal artery, draining the apical part of the latissimus dorsi and merging with the circumflex scapular vein to form a subscapular vein. FMA:71213|EMAPA:37198|MA:0002238 hp.json http://purl.obolibrary.org/obo/UBERON_0002089 human_reference_atlas NCBITaxon:32443 biolink:OrganismalEntity Teleostei GC_ID:1 hp.json teleost fishes http://purl.obolibrary.org/obo/NCBITaxon_32443 HP:0006508 biolink:PhenotypicFeature Abnormality of tibial epiphyses UMLS:C4025030 hp.json Abnormality of end part of shinbone http://purl.obolibrary.org/obo/HP_0006508 HP:0006509 biolink:PhenotypicFeature Diverticulosis of trachea Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical). SNOMEDCT_US:14011008|UMLS:C0340213 hp.json Tracheal diverticulum|Paratracheal air cyst|Tracheocele|Tracheal diverticulosis http://purl.obolibrary.org/obo/HP_0006509 HP:0006504 biolink:PhenotypicFeature obsolete Anomaly of the limb diaphyses morphology hp.json Abnormality of shaft of long bone of the limbs http://purl.obolibrary.org/obo/HP_0006504 UBERON:0002074 biolink:AnatomicalEntity hair shaft The main part of the hair which is composed of trichocytes and is divided into the cortex and medulla. NCIT:C33543|FMA:70728|BTO:0004672|EMAPA:36498|MA:0000159|UMLS:C0221961 hp.json scapus pili|shaft of hair http://purl.obolibrary.org/obo/UBERON_0002074 pheno_slim HP:0006505 biolink:PhenotypicFeature Abnormal limb epiphysis morphology An anomaly of one or more epiphyses of a limb. UMLS:C4021593 hp.json Abnormality involving the epiphyses of the limbs|Abnormality of limb epiphysis morphology|Abnormal shape of end part of limb bones http://purl.obolibrary.org/obo/HP_0006505 UBERON:0002073 biolink:AnatomicalEntity hair follicle A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. MA:0000154|EMAPA:18771|EV:0100156|FMA:70660|BTO:0000554|GAID:934|UMLS:C0221971|EFO:0002464|VHOG:0001268|OpenCyc:Mx4rvVjOI5wpEbGdrcN5Y29ycA|CALOHA:TS-0432|NCIT:C13317|EMAPA:29741|MESH:D018859 hp.json folliculus pili http://purl.obolibrary.org/obo/UBERON_0002073 organ_slim|pheno_slim|efo_slim|human_reference_atlas|uberon_slim UBERON:0002076 biolink:AnatomicalEntity cuticle of hair Smooth and glossy outer protective cell layer of hair shaft. MA:0000157|EMAPA:35388|FMA:70933 hp.json hair cuticle http://purl.obolibrary.org/obo/UBERON_0002076 pheno_slim UBERON:0002075 biolink:AnatomicalEntity viscus An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. XAO:0003034|AAO:0010386|UMLS:C0042779|FMA:7085|MESH:D014781|Wikipedia:Viscus|NCIT:C28287|MA:0000019|SCTID:118760003|RETIRED_EHDAA2:0002201|EMAPA:16245|BTO:0001491|EHDAA:512 hp.json splanchnic tissue|viscera|visceral tissue|visceral organ system|visceral organ http://purl.obolibrary.org/obo/UBERON_0002075 upper_level|organ_slim|pheno_slim|uberon_slim HP:0006507 biolink:PhenotypicFeature Aplasia/hypoplasia of the humerus Absence (due to failure to form) or underdevelopment of the humerus. UMLS:C4025031 hp.json Absent/underdeveloped long bone in upper arm|Absent/small long bone in upper arm http://purl.obolibrary.org/obo/HP_0006507 HP:0006500 biolink:PhenotypicFeature Abnormality of lower limb epiphysis morphology An anomaly of one or more epiphyses of one or both legs. UMLS:C4021595 hp.json Abnormal shape of end part of lower limb end bone|Abnormality involving the epiphyses of the lower limbs http://purl.obolibrary.org/obo/HP_0006500 HP:0006501 biolink:PhenotypicFeature Aplasia/Hypoplasia of the radius A small/hypoplastic or absent/aplastic radius. UMLS:C2749463 hp.json Absence or underdevelopment of the radius bone of the arm|Absent/underdeveloped radius|Radial aplasia/hypoplasia|Absent/small radius http://purl.obolibrary.org/obo/HP_0006501 UBERON:0002072 biolink:AnatomicalEntity hypodermis Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. TAO:0001136|Wikipedia:Hypodermis|BTO:0001314|CALOHA:TS-2366|ZFA:0001136|NCIT:C33645|UMLS:C0278403|EMAPA:37505|FMA:70544 hp.json hypoderm|tela subcutanea|vertebrate hypodermis|superficial fascia|subcutis|sub-tegumental tissue|tela subcutanea|subtegumental tissue|subcutaneous tissue|subcutaneous tissue http://purl.obolibrary.org/obo/UBERON_0002072 pheno_slim|human_reference_atlas|uberon_slim|vertebrate_core HP:0006502 biolink:PhenotypicFeature Aplasia/Hypoplasia involving the carpal bones Absence or underdevelopment of the carpal bones. UMLS:C4025033 hp.json Absent/small wrist bones|Absent/underdeveloped wrist bones http://purl.obolibrary.org/obo/HP_0006502 HP:0006503 biolink:PhenotypicFeature Aplasia/hypoplasia involving forearm bones Absence (due to failure to form) or underdevelopment of one or more forearm bones. UMLS:C4025032 hp.json Absent/small forearm bones|Absent/underdeveloped forearm bones http://purl.obolibrary.org/obo/HP_0006503 UBERON:0002078 biolink:AnatomicalEntity right cardiac atrium A cardiac atrium that is in the left side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rDJ89oqgPEdudWQACs5b6Bw|BTO:0001703|EMAPA:17321|SCTID:244383003|AAO:0010248|VHOG:0000328|MA:0000075|Wikipedia:Right_atrium|FMA:7096|XAO:0003192|UMLS:C0225844|OpenCyc:Mx4runNcs6fqEdudWQACs5b6Bw|EHDAA2:0000290|NCIT:C12868|galen:RightAtrium hp.json atrium dextrum|right atrium|cardiac right atrium|right cardiac atrium|heart right atrium|atrium dextrum|right atrium of heart http://purl.obolibrary.org/obo/UBERON_0002078 pheno_slim|human_reference_atlas|uberon_slim UBERON:0002077 biolink:AnatomicalEntity cortex of hair A cortex that is part of a hair [Automatically generated definition]. MA:0000156|FMA:70934|EMAPA:35387 hp.json hair cortex|coat hair cortex|cortex of coat hair|cortex of coat/hair|coat/hair cortex http://purl.obolibrary.org/obo/UBERON_0002077 pheno_slim UBERON:0002079 biolink:AnatomicalEntity left cardiac atrium A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve. AAO:0010247|BTO:0001702|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rDJ89oqgPEdudWQACs5b6Bw|galen:LeftAtrium|Wikipedia:Left_atrium|MA:0000074|EHDAA2:0000275|SCTID:244387002|FMA:7097|VHOG:0000369|OpenCyc:Mx4rkJN1AagEEdudWQACs5b6Bw|XAO:0003191|NCIT:C12869|EMAPA:17315|UMLS:C0225860 hp.json left cardiac atrium|atrium sinistrum|atrium sinistrum|heart left atrium|left atrium|cardiac left atrium|left atrium of heart http://purl.obolibrary.org/obo/UBERON_0002079 pheno_slim|human_reference_atlas|uberon_slim UBERON:0002063 biolink:AnatomicalEntity sinus venosus The sinus venosus is a large cardiac chamber at the inflow tract that receives venous blood from systemic circulation. precedes the atrium on the venous side of the chordate heart. FMA:70303|ZFA:0000154|NCIT:C34300|TAO:0000154|NCIT:C34299|Wikipedia:Sinus_venosus|EHDAA2:0001839|EHDAA:480|UMLS:C0225857|EMAPA:16237|VHOG:0000177|UMLS:C0231084|AAO:0010505 hp.json sinus venosus cordis|venosus|venarum sinus|sinus venarum|venosus|sinus venosus cordis|sinus venarum|venarum sinus|venarum|inflow tract|venarum http://purl.obolibrary.org/obo/UBERON_0002063 vertebrate_core|pheno_slim|uberon_slim UBERON:0002062 biolink:AnatomicalEntity endocardial cushion The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. FMA:70302|EHDAA2:0000434|MA:0000078|EHDAA:2586|XAO:0004189|MESH:D054089|EHDAA2:0004028|VHOG:0000932|Wikipedia:Atrioventricular_cushions|ZFA:0001317|TAO:0001317|EMAPA:16696 hp.json atrioventricular cushion|cardiac cushion|endocardial cushion tissue|atrioventricular canal cushion|AV cushion|atrioventricular cushion|endocardial cushions|cardiac cushion http://purl.obolibrary.org/obo/UBERON_0002062 pheno_slim|uberon_slim|vertebrate_core UBERON:0002065 biolink:AnatomicalEntity posterior cardinal vein One of two paired cardinal veins that return blood from the body of the embryo[Kardong]. FMA:70314|TAO:0000477|AAO:0010511|XAO:0000241|NCIT:C34257|UMLS:C0231087|EHDAA2:0001486|VHOG:0000111|EHDAA:1316|BTO:0004386|EMAPA:16357|ZFA:0000477 hp.json inferior cardinal vein|PCV|postcardinal vein|caudal cardinal veins|axial vein http://purl.obolibrary.org/obo/UBERON_0002065 vertebrate_core|pheno_slim|uberon_slim UBERON:0002061 biolink:AnatomicalEntity truncus arteriosus The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. MESH:D014338|SCTID:308828009|FMA:70301|UMLS:C1519589|Wikipedia:Truncus_arteriosus_(embryology)|EMAPA:35887|OpenCyc:Mx4rquH9YKgNEdudWQACs5b6Bw|EHDAA2:0004143|NCIT:C34317|GAID:554|MA:0000103 hp.json http://purl.obolibrary.org/obo/UBERON_0002061 uberon_slim UBERON:0002060 biolink:AnatomicalEntity femoral artery The femoral artery is a large artery in the muscles of the thigh. It is a continuation of external iliac artery where it enters the femoral triangle at the mid inguinal point behind the inguinal ligament. It leaves femoral triangle through apex beneath the sartorius muscle. It enters the popliteal fossa by passing through the 5th osseo-aponeurotic(adductor hiatus) opening of adductor magnus where it becomes the Popliteal Artery. [WP,unvetted]. BTO:0001624|GAID:494|AAO:0010222|galen:FemoralArtery|OpenCyc:Mx4rwHMI05wpEbGdrcN5Y29ycA|NCIT:C12715|MESH:D005263|CALOHA:TS-0321|EMAPA:35342|MA:0001951|UMLS:C0015801|FMA:70248 hp.json arteria femoralis http://purl.obolibrary.org/obo/UBERON_0002060 uberon_slim UBERON:0002067 biolink:AnatomicalEntity dermis The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. NCIT:C12701|AAO:0000128|CALOHA:TS-2076|EFO:0000953|FMA:70323|Wikipedia:Dermis|VHOG:0000108|MA:0000152|EV:0100154|GAID:1321|UMLS:C0011646|MAT:0000153|XAO:0000217|EMAPA:17527|ZFA:0001119|MESH:D020405|SCTID:361696001|MIAA:0000153|TAO:0001119|BTO:0000294 hp.json corium|cutis|vertebrate dermis|corium|corium http://purl.obolibrary.org/obo/UBERON_0002067 vertebrate_core|pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0002069 biolink:AnatomicalEntity stratum granulosum of epidermis The layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis. UMLS:C0221923|FMA:70344|MA:0000805|EMAPA:32786|NCIT:C33627|BTO:0000361 hp.json granular layer of epidermis|stratum granulosum|epidermis stratum granulosum|epidermis granular layer http://purl.obolibrary.org/obo/UBERON_0002069 pheno_slim|human_reference_atlas UBERON:0002068 biolink:AnatomicalEntity urachus A fibrous remnant of the allantoic stalk, a narrow fetal canal connecting the apex of the urinary bladder with the umbilicus located in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly. its lumen is normally obliterated during development, transforming the urachus into a solid cord, a functionless remnant that persists throughout life as the median umbilical ligament; failure of complete lumen obliteration may result in distinct congenital urachal remnant anomalies[MP]. NCIT:C12338|EMAPA:18323|EHDAA2:0002137|VHOG:0000735|FMA:70343|GAID:1313|EHDAA:7016|UMLS:C0041916|MESH:D014497|EHDAA:9332|RETIRED_EHDAA2:0002138|MA:0001701 hp.json http://purl.obolibrary.org/obo/UBERON_0002068 pheno_slim|uberon_slim OBO:uberon/core#extends_fibers_into biolink:NamedThing extends_fibers_into hp.json http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into UBERON:0002052 biolink:AnatomicalEntity adrenal gland capsule The thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers; some blood vessels and nerves enter the substance of the gland in the trabeculae that extend inward from the capsule and then leave the trabeculae to enter the cortex. FMA:69087|UMLS:C1181304|NCIT:C32050|MA:0000117 hp.json adrenal capsule|capsule of adrenal gland http://purl.obolibrary.org/obo/UBERON_0002052 pheno_slim UBERON:0002051 biolink:AnatomicalEntity epithelium of bronchiole An epithelium that is part of a bronchiole [Automatically generated definition]. UMLS:C1181296|FMA:69077|CALOHA:TS-0570|MA:0001772|BTO:0001866|NCIT:C48942|FMA:62497|EMAPA:32693 hp.json epithelial tissue of lobular bronchiole|epithelium of lobular bronchiole|bronchiole epithelial tissue|bronchiolar epithelium|lobular bronchiole epithelium|lobular bronchiole epithelial tissue|epithelial tissue of bronchiole|bronchiole epithelium http://purl.obolibrary.org/obo/UBERON_0002051 pheno_slim UBERON:0002050 biolink:AnatomicalEntity embryonic structure Anatomical structure that is part of an embryo. NCIT:C13229|FMA:69067|RETIRED_EHDAA2:0003169|SCTID:667009|TAO:0001105|CALOHA:TS-2110|AAO:0000138|UMLS:C0013948|XAO:0003042|GAID:407|VSAO:0000178|BILA:0000034|EFO:0000461|FBbt:00004208|BTO:0000174|ZFA:0001105|MESH:D004628 hp.json embryonale Struktur|developing structure|developing embryonic structure|embryonic structures|embryonic anatomical structure http://purl.obolibrary.org/obo/UBERON_0002050 vertebrate_core|efo_slim|inconsistent_with_fma GO:0140112 biolink:BiologicalProcess extracellular vesicle biogenesis The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content. hp.json extracellular vesicle assembly http://purl.obolibrary.org/obo/GO_0140112 UBERON:0002059 biolink:AnatomicalEntity submandibular ganglion The ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands. NCIT:C52558|EMAPA:36276|EHDAA2:0001942|BTO:0001318|EHDAA:6710|UMLS:C0229063|MA:0002470|FMA:6966 hp.json mandibular ganglion|ganglion submandibulare|ganglion submandibulare|lingual ganglion|Blandin`s ganglion|maxillary ganglion|submaxillary ganglion http://purl.obolibrary.org/obo/UBERON_0002059 uberon_slim|pheno_slim UBERON:0002056 biolink:AnatomicalEntity inferior suprarenal artery Each renal artery gives off some small inferior suprarenal branches to the suprarenal gland, the ureter, and the surrounding cellular tissue and muscles. [WP,unvetted]. FMA:69264|MA:0002056|NCIT:C52737|UMLS:C0226334|EMAPA:37088 hp.json arteria suprarenalis inferior http://purl.obolibrary.org/obo/UBERON_0002056 uberon_slim|human_reference_atlas UBERON:0002058 biolink:AnatomicalEntity main ciliary ganglion A parasympathetic ganglion located in the posterior orbit that contains preganglionic nerves and postganglionic neurons of the oculomotor nerve, connects to the Edinger-Westphal nucleus via the oculomotor nerve and the eye muscles via the short ciliary nerve. FMA:6964|VHOG:0000805|MA:0001136|EFO:0002559|EHDAA:5623|EMAPA:18222|BAMS:GcIII|NLXANAT:100304|EHDAA2:0000251 hp.json ciliary ganglion|ganglion ciliare http://purl.obolibrary.org/obo/UBERON_0002058 uberon_slim|pheno_slim|efo_slim UBERON:0002057 biolink:AnatomicalEntity phrenic artery An artery that supplies the diaphragm. MA:0002019|FMA:69330|EMAPA:37108|NCIT:C33320|UMLS:C1181536 hp.json http://purl.obolibrary.org/obo/UBERON_0002057 uberon_slim HP:0006538 biolink:PhenotypicFeature Recurrent bronchopulmonary infections An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. UMLS:C2169795 hp.json Recurrent infections in bronchi and lungs http://purl.obolibrary.org/obo/HP_0006538 HP:0006539 biolink:PhenotypicFeature Bronchial cartilage hypoplasia UMLS:C4025024 hp.json Underdevelopment of the bronical cartilage http://purl.obolibrary.org/obo/HP_0006539 HP:0006533 biolink:PhenotypicFeature Bronchodysplasia UMLS:C4025025 hp.json http://purl.obolibrary.org/obo/HP_0006533 HP:0006535 biolink:PhenotypicFeature Recurrent intrapulmonary hemorrhage A recurrent hemorrhage occurring within the lung. UMLS:C3805919 hp.json Recurrent intrapulmonary haemorrhage|Recurrent pulmonary haemorrhage|Recurrent bleeding into lungs|Recurrent pulmonary hemorrhage http://purl.obolibrary.org/obo/HP_0006535 HP:0006536 biolink:PhenotypicFeature Airway obstruction Obstruction of conducting airways of the lung. MSH:D008173|UMLS:C0600260 hp.json Obstructive lung disease|Pulmonary obstruction http://purl.obolibrary.org/obo/HP_0006536 HP:0006530 biolink:PhenotypicFeature Abnormal pulmonary interstitial morphology Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. UMLS:C0206062|SNOMEDCT_US:233703007|MSH:D017563 hp.json Interstitial lung disease|Interstitial pulmonary disease|Abnormal lung parenchyma morphology|Abnormality in area between air sacs in lung http://purl.obolibrary.org/obo/HP_0006530 HP:0006531 biolink:PhenotypicFeature Pleural lymphangiectasia UMLS:C1856139 hp.json http://purl.obolibrary.org/obo/HP_0006531 HP:0006532 biolink:PhenotypicFeature Recurrent pneumonia An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. SNOMEDCT_US:128601007|SNOMEDCT_US:699014000|UMLS:C0748140|UMLS:C0694550|UMLS:C0876973|UMLS:C1859117 hp.json Recurrent pneumonia|Pulmonary infections|Multiple pulmonary infections|Pneumonia, recurrent|Pneumonia, recurrent episodes|Recurrent pulmonary infections|Pulmonary infection|pulmonary infections, recurrent http://purl.obolibrary.org/obo/HP_0006532 OBO:uberon/core#sexually_homologous_to biolink:NamedThing sexually_homologous_to hp.json http://purl.obolibrary.org/obo/uberon/core#sexually_homologous_to HP:0006548 biolink:PhenotypicFeature Pulmonary arteriovenous malformation Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. Fyler:2210|UMLS:C1857690 hp.json Pulmonary AV malformation http://purl.obolibrary.org/obo/HP_0006548 HP:0006549 biolink:PhenotypicFeature Unilateral primary pulmonary dysgenesis UMLS:C4021592 hp.json Primary pulmonary dysgenesis, unilateral http://purl.obolibrary.org/obo/HP_0006549 HP:0006544 biolink:PhenotypicFeature Extrapulmonary sequestrum A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree. UMLS:C4025023|UMLS:C4020814 hp.json Diaphragmatic sequestrum http://purl.obolibrary.org/obo/HP_0006544 HP:0006541 biolink:PhenotypicFeature obsolete Chronic obstructive airway disease from birth hp.json http://purl.obolibrary.org/obo/HP_0006541 HP:0006543 biolink:PhenotypicFeature Cardiorespiratory arrest UMLS:C0600228|MSH:D006323|SNOMEDCT_US:410430005 hp.json http://purl.obolibrary.org/obo/HP_0006543 HP:0006519 biolink:PhenotypicFeature Alveolar cell carcinoma Adenocarcinoma of the Bronchus. SNOMEDCT_US:112677002|MSH:D002282|SNOMEDCT_US:373627005|UMLS:C0007120|SNOMEDCT_US:36310008 hp.json http://purl.obolibrary.org/obo/HP_0006519 HP:0006515 biolink:PhenotypicFeature Interstitial pneumonitis SNOMEDCT_US:64667001|UMLS:C0206061|MSH:D017563 hp.json http://purl.obolibrary.org/obo/HP_0006515 HP:0006516 biolink:PhenotypicFeature Hypersensitivity pneumonitis Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010). SNOMEDCT_US:37471005|UMLS:C0002390|MSH:D000542 hp.json http://purl.obolibrary.org/obo/HP_0006516 HP:0006517 biolink:PhenotypicFeature Intraalveolar phospholipid accumulation Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. MSH:D011649|SNOMEDCT_US:10501004|UMLS:C0034050 hp.json Alveolar proteinosis|Pulmonary alveolar proteinosis|Detection of PAS-positive extracellular material in broncho-alveolar lavage http://purl.obolibrary.org/obo/HP_0006517 HP:0006518 biolink:PhenotypicFeature Pulmonary venous occlusion Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. SNOMEDCT_US:89420002|MSH:D011668|Fyler:3002|UMLS:C0034091|UMLS:C4280802 hp.json Pulmonary venoocclusive disease|Pulmonary venous stenosis http://purl.obolibrary.org/obo/HP_0006518 HP:0006511 biolink:PhenotypicFeature Laryngeal stridor An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. SNOMEDCT_US:406444002|MSH:D007826|SNOMEDCT_US:53787002|SNOMEDCT_US:41432000|UMLS:C0023066 hp.json Laryngeal stidor http://purl.obolibrary.org/obo/HP_0006511 HP:0006514 biolink:PhenotypicFeature Intraalveolar nodular calcifications UMLS:C4025028 hp.json http://purl.obolibrary.org/obo/HP_0006514 HP:0006510 biolink:PhenotypicFeature Chronic pulmonary obstruction An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. UMLS:C0024117|MSH:D029424|SNOMEDCT_US:13645005 hp.json Chronic obstructive pulmonary disease|COPD http://purl.obolibrary.org/obo/HP_0006510 UBERON:0002090 biolink:AnatomicalEntity postcranial axial skeleton The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. AAO:0000034|XAO:0003073|ZFA:0000317|EHDAA2:0000161|TAO:0000317|EMAPA:17214|MA:0002986|VSAO:0000093|MAT:0000148|EFO:0000942|EHDAA:5049|VHOG:0000317|EMAPA:37721|FMA:71221|MIAA:0000148 hp.json axial skeleton|post-cranial axial skeleton|axial skeleton http://purl.obolibrary.org/obo/UBERON_0002090 efo_slim|uberon_slim|vertebrate_core|pheno_slim UBERON:0002095 biolink:AnatomicalEntity mesentery Anatomical organ component composed of a double layer of serous membrane that suspends a viscus from the body wall or connects adjacent viscera and in doing so conveys blood vessels, lymphatics and nerves to and from the viscera. Examples: greater omentum, broad ligament of uterus, sigmoid mesocolon. MESH:D008643|GAID:21|EV:0100083|AAO:0011061|UMLS:C0025474|BTO:0001380|galen:Mesentery|NCIT:C33103|FMA:7144 hp.json mesentery (generic)|generic mesentery http://purl.obolibrary.org/obo/UBERON_0002095 pheno_slim|uberon_slim|vertebrate_core HP:0006527 biolink:PhenotypicFeature Lymphocytic interstitial pneumonia Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa. MSH:C562489|SNOMEDCT_US:44274007|UMLS:C0264511 hp.json Lymphoid interstitial pneumonia|Lymphocytic interstitial pneumonitis|Lymphoid interstitial pneumonitis http://purl.obolibrary.org/obo/HP_0006527 HP:0006528 biolink:PhenotypicFeature Chronic lung disease According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. SNOMEDCT_US:413839001|UMLS:C0746102 hp.json Chronic lung disease http://purl.obolibrary.org/obo/HP_0006528 UBERON:0002097 biolink:AnatomicalEntity skin of body The organ covering the body that consists of the dermis and epidermis. EFO:0000962|CALOHA:TS-0934|OpenCyc:Mx4rvVjX3ZwpEbGdrcN5Y29ycA|UMLS:C1123023|FMA:7163|NCIT:C12470|BTO:0001253|EMAPA:17525|MFMO:0000099|Wikipedia:Skin|MESH:D012867|EHDAA2:0001844|XAO:0000023|galen:Skin|SCTID:181469002 hp.json integumental organ|pelt|skin|skin organ|integument|entire skin|entire integument http://purl.obolibrary.org/obo/UBERON_0002097 pheno_slim|efo_slim|human_reference_atlas|uberon_slim|major_organ HP:0006529 biolink:PhenotypicFeature Abnormal pulmonary lymphatics An abnormality of the pulmonary lymphatic chain. UMLS:C4025026 hp.json http://purl.obolibrary.org/obo/HP_0006529 UBERON:0002092 biolink:AnatomicalEntity brain dura mater The fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer. MA:0000815|UMLS:C0459393|NCIT:C49332|SCTID:309321003|VHOG:0000270|FMA:71236|EV:0100313|EMAPA:32668 hp.json dura mater encephali|dura mater of brain|dura mater cranialis|cranial dura mater http://purl.obolibrary.org/obo/UBERON_0002092 pheno_slim HP:0006522 biolink:PhenotypicFeature Repeated pneumothoraces UMLS:C4025027 hp.json Repeated pneumothorax http://purl.obolibrary.org/obo/HP_0006522 UBERON:0002091 biolink:AnatomicalEntity appendicular skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. NCIT:C49477|VHOG:0001666|MIAA:0000278|MA:0000290|SCTID:322050006|UMLS:C0222646|VSAO:0000076|AAO:0000747|EMAPA:32729|Wikipedia:Appendicular_skeleton|XAO:0003166|EFO:0000951|MAT:0000278|FMA:71222 hp.json entire appendicular skeleton|appendicular skeleton|paired fin skeleton|skeleton appendiculare|skeleton appendiculare|entire appendicular skeleton http://purl.obolibrary.org/obo/UBERON_0002091 efo_slim|uberon_slim|vertebrate_core|pheno_slim UBERON:0002094 biolink:AnatomicalEntity interventricular septum Cardiac septum which separates the right ventricle from the left ventricle.[FMA]. Wikipedia:Interventricular_septum|MA:0000085|OpenCyc:Mx4rwA7lp5wpEbGdrcN5Y29ycA|SCTID:362019005|VHOG:0000386|BTO:0002483|galen:InterventricularSeptum|EHDAA:2603|UMLS:C0225870|NCIT:C32874|EFO:0001956|EMAPA:17333|FMA:7133 hp.json ventricle septum|ventricular septum|intraventricular septum|s. interventriculare cordis|heart ventricular septum|interventriculare cordis|intraventricular septum|septum inferius|septum membranaceum|septum inferius|septum membranaceum|ventricular septum|interventricular septum of heart|heart interventricular septum|s. interventriculare cordis http://purl.obolibrary.org/obo/UBERON_0002094 pheno_slim|human_reference_atlas|efo_slim|uberon_slim HP:0006524 biolink:PhenotypicFeature Tracheobronchial leiomyomatosis UMLS:C3806786 hp.json http://purl.obolibrary.org/obo/HP_0006524 UBERON:0002093 biolink:AnatomicalEntity spinal dura mater A dura mater that is part of a spinal cord [Automatically generated definition]. EMAPA:17806|VHOG:0000411|UMLS:C0228124|SCTID:362302001|FMA:71237|MA:0001132|NCIT:C49799 hp.json dura mater of neuraxis of spinal cord|spinal cord dura mater|spinal cord dura mater of neuraxis|dura mater of spinal cord http://purl.obolibrary.org/obo/UBERON_0002093 pheno_slim|organ_slim HP:0006525 biolink:PhenotypicFeature obsolete Lung segmentation defects hp.json http://purl.obolibrary.org/obo/HP_0006525 HP:0006520 biolink:PhenotypicFeature Progressive pulmonary function impairment UMLS:C1849570 hp.json http://purl.obolibrary.org/obo/HP_0006520 HP:0006521 biolink:PhenotypicFeature Pulmonary lymphangiectasia Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. UMLS:C1855480 hp.json Pulmonary lymphangiectasis http://purl.obolibrary.org/obo/HP_0006521 UBERON:0002099 biolink:AnatomicalEntity cardiac septum The thin membranous structure between the two heart atria or the thick muscular structure between the two heart ventricles. UMLS:C0018819|MESH:D006346|MA:0000083|NCIT:C49485|EMAPA:35400|FMA:7180|SCTID:362014000|GAID:562 hp.json heart septa|heart septum|septum of heart|spiral septa|cardiac septa http://purl.obolibrary.org/obo/UBERON_0002099 pheno_slim|uberon_slim CHEBI:23677 biolink:ChemicalSubstance diazole An azole that is either one of a pair of heterocyclic organic compounds comprising three carbon atoms and two nitrogen atoms arranged in a ring. hp.json diazoles http://purl.obolibrary.org/obo/CHEBI_23677 3_STAR UBERON:0004660 biolink:AnatomicalEntity mandible coronoid process A dorsal process on the lower jaw associated with muscle attachment. It may be formed by a separate coronoid bone or as a process of the dentary. In most living (and many extinct) mammals, the most dorsal of the three proximal processes of the jaw. FMA:52833|MA:0002819 hp.json coronoid|coronoid process of mandible|mandibular coronoid process|processus coronoideus (mandibula)|processus coronoideus mandibulae http://purl.obolibrary.org/obo/UBERON_0004660 pheno_slim UBERON:2000238 biolink:AnatomicalEntity olfactory tract linking bulb to ipsilateral ventral telencephalon ZFA:0000238 hp.json http://purl.obolibrary.org/obo/UBERON_2000238 UBERON:0002005 biolink:AnatomicalEntity enteric nervous system The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation[GO]. MAT:0000102|FMA:66070|EFO:0000895|TAO:0001155|EHDAA2:0004202|CALOHA:TS-2093|MIAA:0000102|BAMS:ENS|EMAPA:26922|UMLS:C0206111|GAID:799|BIRNLEX:1166|BTO:0002506|MA:0000222|MESH:D017615|ZFA:0001155 hp.json enteric PNS|PNS - enteric http://purl.obolibrary.org/obo/UBERON_0002005 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0004668 biolink:AnatomicalEntity fourth ventricle aperture One of: the 4th ventricle median or lateral apertures. FMA:242766|MA:0002945 hp.json aperture of 4th ventricle|aperture of fourth ventricle http://purl.obolibrary.org/obo/UBERON_0004668 UBERON:0002004 biolink:AnatomicalEntity trunk of sciatic nerve EMAPA:18577|FMA:65507|MA:0001178 hp.json sciatic nerve trunk|sciatic neural trunk http://purl.obolibrary.org/obo/UBERON_0002004 UBERON:0004666 biolink:AnatomicalEntity interventricular septum membranous part The membranous portion of the wall between the two lower chambers of the heart. MA:0002939|SCTID:278228007|EHDAA2:0004596|VHOG:0000927|EMAPA:18246|FMA:7135 hp.json membranous septum|membranous part interventricular septum|membranous portion of interventricular septum|pars membranacea septi interventricularis|cardiac ventricular membranous septum|cardiac ventricular membranous septum|membranous part of interventricular septum|ventricle membranous septum|ventricular membranous septum|membranous interventricular septum|membranous interventricular septum|pars membranacea (septi interventricularis) http://purl.obolibrary.org/obo/UBERON_0004666 pheno_slim UBERON:0002007 biolink:AnatomicalEntity medulla of lymph node The medullary portion of the lymph node, which contains large blood vessels, sinuses and medullary cords that contain antibody-secreting plasma cells. EMAPA:35529|MA:0000745|FMA:66254 hp.json lymph node medulla|medulla nodi lymphoidei http://purl.obolibrary.org/obo/UBERON_0002007 pheno_slim|human_reference_atlas|uberon_slim UBERON:0004667 biolink:AnatomicalEntity interventricular septum muscular part The muscular portion of the wall between the two lower chambers of the heart. RETIRED_EHDAA2:0000888|EHDAA:2607|EMAPA:18247|MA:0002940|EHDAA2:0000885|FMA:7134 hp.json pars muscularis (septi interventricularis)|muscular part of interventricular septum|muscular interventricular septum|septum membranaceum|pars muscularis septi interventricularis|cardiac ventricular muscular septum|muscular part interventricular septum|muscular septum|cardiac ventricular muscular septum|ventricular muscular septum|muscular interventricular septum http://purl.obolibrary.org/obo/UBERON_0004667 pheno_slim UBERON:0002006 biolink:AnatomicalEntity cortex of lymph node Peripheral portion of the lymph node, underneath the capsule[WP]. EMAPA:35525|UMLS:C0933402|FMA:66253|NCIT:C33029|MA:0000740 hp.json cortex nodi lymphoidei|lymph node cortex http://purl.obolibrary.org/obo/UBERON_0002006 pheno_slim|human_reference_atlas|uberon_slim GO:0071764 biolink:BiologicalProcess nuclear outer membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear outer membrane. hp.json nuclear outer membrane organisation|nuclear outer membrane organization and biogenesis http://purl.obolibrary.org/obo/GO_0071764 UBERON:0004664 biolink:AnatomicalEntity aorta tunica adventitia The outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers. MA:0002902|EMAPA:35136|FMA:14283|SCTID:24996002 hp.json tunica adventitia of aorta http://purl.obolibrary.org/obo/UBERON_0004664 pheno_slim UBERON:0002001 biolink:AnatomicalEntity joint of rib Any joint that connects a rib to another structure (or another rib). Examples: costochondral, costovertebral, interchondral, sternocostal joints. MA:0001508|NCIT:C49575|FMA_RETIRED:64994|UMLS:C1261194 hp.json rib joint http://purl.obolibrary.org/obo/UBERON_0002001 GO:0071763 biolink:BiologicalProcess nuclear membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear inner or outer membrane. hp.json nuclear membrane organization and biogenesis|nuclear membrane organisation http://purl.obolibrary.org/obo/GO_0071763 UBERON:0004665 biolink:AnatomicalEntity muscular coat of seminal vesicle A muscular coat that is part of a seminal vesicle [Automatically generated definition]. MA:0002913|FMA:19404|EMAPA:29773 hp.json muscle layer of seminal vesicle|muscular coat of seminal gland|muscular layer of seminal gland|tunica muscularis glandulae vesiculosae|tunica muscularis (vesicula seminalis) http://purl.obolibrary.org/obo/UBERON_0004665 UBERON:0002000 biolink:AnatomicalEntity gluteal muscle On of the muscles that make up the buttocks: the gluteus maximus muscle, gluteus medius muscle and gluteus minimus muscle. VHOG:0001316|BTO:0000531|UMLS:C1744702|EHDAA2:0000715|MA:0000535|NCIT:C78205|FMA:64922|EMAPA:18186 hp.json gluteus|gluteus muscle http://purl.obolibrary.org/obo/UBERON_0002000 pheno_slim|uberon_slim UBERON:0004663 biolink:AnatomicalEntity aorta wall An anatomical wall that is part of an aorta, enclosing the luminal space. EMAPA:35139|MA:0002901|FMA:14156 hp.json aortic wall|wall of aorta http://purl.obolibrary.org/obo/UBERON_0004663 pheno_slim GO:0010819 biolink:BiologicalProcess regulation of T cell chemotaxis Any process that modulates the rate, frequency or extent of T cell chemotaxis. T cell chemotaxis is the directed movement of a T cell in response to an external stimulus. hp.json http://purl.obolibrary.org/obo/GO_0010819 GO:0010817 biolink:BiologicalProcess regulation of hormone levels Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. hp.json http://purl.obolibrary.org/obo/GO_0010817 GO:0010818 biolink:BiologicalProcess T cell chemotaxis The directed movement of a T cell in response to an external stimulus. A T cell is a type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. hp.json T-cell chemotaxis http://purl.obolibrary.org/obo/GO_0010818 UBERON:0004649 biolink:AnatomicalEntity sphenoid bone pterygoid process The process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes. MA:0002774|AAO:0010086|FMA:54682 hp.json pterygoid process|processus pterygoideus ossis sphenoidalis|processus pterygoideus|pterygoid processes|pterygoid processus|pterygoid process of sphenoid bone|pterygoid process of sphenoid bone|pterygoid process|pterygoid process of sphenoid|pterygoid plate|processus pterygoideus ossis sphenoidalis http://purl.obolibrary.org/obo/UBERON_0004649 pheno_slim UBERON:0004650 biolink:AnatomicalEntity tongue keratinized epithelium A keratinized stratified squamous epithelium that is part of a tongue. MA:0002787|FMA:74865 hp.json keratinized epithelium of tongue http://purl.obolibrary.org/obo/UBERON_0004650 CHEBI:35664 biolink:ChemicalSubstance EC 1.1.1.34/EC 1.1.1.88 (hydroxymethylglutaryl-CoA reductase) inhibitor Any EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that inhibits HMG-CoA reductases. Hydroxymethylglutaryl-CoA reductase inhibitors have been shown to lower directly cholesterol synthesis. The Enzyme Commission designation is EC 1.1.1.34 for the NADPH-dependent enzyme and EC 1.1.1.88 for an NADH-dependent enzyme. PMID:15531285|PMID:1464741|PMID:20467214|Wikipedia:HMG-CoA_reductase hp.json hydroxymethylglutaryl-CoA reductase inhibitor|HMG-CoA reductase inhibitor|HMG-CoA reductase inhibitors|hydroxymethylglutaryl-CoA reductase inhibitors http://purl.obolibrary.org/obo/CHEBI_35664 3_STAR GO:0009820 biolink:BiologicalProcess alkaloid metabolic process The chemical reactions and pathways involving alkaloids, nitrogen containing natural products which are not otherwise classified as peptides, nonprotein amino acids, amines, cyanogenic glycosides, glucosinolates, cofactors, phytohormones or primary metabolites (such as purine or pyrimidine bases). hp.json alkaloid metabolism http://purl.obolibrary.org/obo/GO_0009820 goslim_chembl GO:0009821 biolink:BiologicalProcess alkaloid biosynthetic process The chemical reactions and pathways resulting in the formation of alkaloids, nitrogen-containing natural products which are not otherwise classified as nonprotein amino acids, amines, peptides, amines, cyanogenic glycosides, glucosinolates, cofactors, phytohormones, or primary metabolite (such as purine or pyrimidine bases). UM-BBD_enzymeID:e0711 hp.json alkaloid formation|alkaloid biosynthesis|alkaloid anabolism|alkaloid synthesis http://purl.obolibrary.org/obo/GO_0009821 UBERON:0004657 biolink:AnatomicalEntity mandible condylar process Articular part of the mandible bone. GAID:219|MA:0002816|BTO:0001750|MESH:D008335|MFMO:0000056|FMA:52836|EMAPA:36572 hp.json mandibular condyle|mandibular condyloid process|processus condylaris|condyle of mandible|condyle of the mandible|condyloid process|processus condylaris mandibulae|condyle of the mandible|condylar process of mandible http://purl.obolibrary.org/obo/UBERON_0004657 pheno_slim GO:0071754 biolink:CellularComponent IgM immunoglobulin complex, circulating A polymer of five or six IgM core units each composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds; the individual IgM core units are held together via disulfide bonds with a single J chain polypeptide acting as a bridge between two of the polymeric units. Circulating IgM is present in the extracellular space, in mucosal areas or other tissues, or in the blood or lymph. hp.json IgM antibody http://purl.obolibrary.org/obo/GO_0071754 GO:0071753 biolink:CellularComponent IgM immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. hp.json http://purl.obolibrary.org/obo/GO_0071753 UBERON:0004652 biolink:AnatomicalEntity humerus diaphysis The body or shaft of the humerus is almost cylindrical in the upper half of its extent, prismatic and flattened below, and has three borders and three surfaces. MA:0002807|FMA:13305|NCIT:C120671|EMAPA:25051 hp.json body of the humerus|diaphysis of humerus|corpus humeri|shaft of humerus|shaft of the humerus|humeral diaphysis|body of humerus|medial humerus http://purl.obolibrary.org/obo/UBERON_0004652 pheno_slim UBERON:0004639 biolink:AnatomicalEntity renal afferent arteriole The blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism. MA:0002579|FMA:77042|TAO:0002139|EMAPA:28266|EMAPA:28230|ZFA:0005307 hp.json afferent arteriole|afferent glomerular arteriole|kidney afferent arteriole|arteriola glomerularis afferens renis|arteriola glomerularis afferens|afferent glomerular arteriole of kidney http://purl.obolibrary.org/obo/UBERON_0004639 vertebrate_core|pheno_slim|human_reference_atlas UBERON:0004637 biolink:AnatomicalEntity otic capsule The capsule surrounding the inner ear mechanism. VHOG:0000854|AAO:0010143 hp.json otic region|otic capsule|auditory capsule|periotic capsule|otic capsule endochondral element|otic capsule skeletal element|periotic|otic capsule element http://purl.obolibrary.org/obo/UBERON_0004637 UBERON:0004638 biolink:AnatomicalEntity blood vessel endothelium An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart. UMLS:C1706972|EMAPA:35176|CALOHA:TS-2155|ZFA:0005257|MA:0000709|BTO:0000766|NCIT:C53395|TAO:0005257 hp.json http://purl.obolibrary.org/obo/UBERON_0004638 vertebrate_core|pheno_slim UBERON:0004646 biolink:AnatomicalEntity infraorbital artery The infraorbital artery is an artery in the head that runs in the maxilla, emerging through the infraorbital foramen, just under the orbit of the eye. [WP,unvetted]. EMAPA:37090|FMA:49767|MA:0001977|UMLS:C0226153|NCIT:C52940 hp.json a. infraorbitalis|infra-orbital artery http://purl.obolibrary.org/obo/UBERON_0004646 human_reference_atlas UBERON:0004647 biolink:AnatomicalEntity liver lobule The polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein. UMLS:C0227518|FMA:14471|MA:0002494|EMAPA:35499|NCIT:C32732 hp.json lobules of liver|lobuli hepatici|lobulus hepaticus|hepatic lobule|lobuli hepatis http://purl.obolibrary.org/obo/UBERON_0004647 pheno_slim|human_reference_atlas UBERON:0004641 biolink:AnatomicalEntity spleen capsule The connective tissue that surrounds the spleen. FMA:15849|EMAPA:35802|UMLS:C0229681|MA:0000753|NCIT:C33598 hp.json tunica fibrosa splenica|Malpighian capsule|splenic capsule|fibrous capsule of spleen|fibroelastic coat of spleen|capsula splenica|tunica fibrosa (splen)(lien)|capsule of spleen http://purl.obolibrary.org/obo/UBERON_0004641 pheno_slim|human_reference_atlas UBERON:0004628 biolink:AnatomicalEntity thoracic vertebra 3 The third thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. NCIT:C33725|UMLS:C0459952|EMAPA:19544|MA:0001440|FMA:9209 hp.json third thoracic vertebra|T3 vertebra|third dorsal vertebra http://purl.obolibrary.org/obo/UBERON_0004628 defined_by_ordinal_series UBERON:0004629 biolink:AnatomicalEntity thoracic vertebra 4 The fourth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. EMAPA:19545|UMLS:C0459951|FMA:9248|MA:0001441|NCIT:C33726 hp.json T4 vertebra|fourth thoracic vertebra|fourth dorsal vertebra http://purl.obolibrary.org/obo/UBERON_0004629 defined_by_ordinal_series UBERON:0004626 biolink:AnatomicalEntity thoracic vertebra 1 The first thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. UMLS:C0459933|NCIT:C33720|EMAPA:19542|FMA:9165|MA:0001438 hp.json first dorsal vertebra|T1 vertebra|first thoracic vertebra http://purl.obolibrary.org/obo/UBERON_0004626 defined_by_ordinal_series UBERON:0004627 biolink:AnatomicalEntity thoracic vertebra 2 The second thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. NCIT:C33724|EMAPA:19543|FMA:9187|MA:0001439|UMLS:C0459936 hp.json T2 vertebra|second thoracic vertebra|second dorsal vertebra http://purl.obolibrary.org/obo/UBERON_0004627 defined_by_ordinal_series UBERON:0016612 biolink:AnatomicalEntity auditory hillocks, pharyngeal arch 2 derived A collection of protruberances derived from pharyngeal arch 2 that develop into the concha, antihelix and antitragus. hp.json http://purl.obolibrary.org/obo/UBERON_0016612 UBERON:0016611 biolink:AnatomicalEntity auditory hillocks, pharyngeal arch 1 derived A collection of protruberances derived from pharyngeal arch 1 that develop into the tragus, crus of the helix, and helix. hp.json http://purl.obolibrary.org/obo/UBERON_0016611 UBERON:0004635 biolink:AnatomicalEntity thoracic vertebra 11 The eleventh thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. NCIT:C33722|EMAPA:19552|FMA:10059|MA:0001448|UMLS:C0459956 hp.json eleventh thoracic vertebra|eleventh dorsal vertebra|T11 vertebra http://purl.obolibrary.org/obo/UBERON_0004635 defined_by_ordinal_series UBERON:0004636 biolink:AnatomicalEntity thoracic vertebra 12 The twelfth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. EMAPA:19553|FMA:10081|MA:0001449|UMLS:C0459957|NCIT:C33723 hp.json T12 vertebra|twelfth dorsal vertebra|twelfth thoracic vertebra http://purl.obolibrary.org/obo/UBERON_0004636 defined_by_ordinal_series UBERON:0004633 biolink:AnatomicalEntity thoracic vertebra 9 The ninth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. NCIT:C33731|EMAPA:19550|UMLS:C0459954|FMA:10014|MA:0001446 hp.json Ninth dorsal vertebra|T9 vertebra|ninth thoracic vertebra http://purl.obolibrary.org/obo/UBERON_0004633 defined_by_ordinal_series UBERON:0004634 biolink:AnatomicalEntity thoracic vertebra 10 The tenth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. NCIT:C33721|UMLS:C0459955|EMAPA:19551|FMA:10037|MA:0001447 hp.json tenth thoracic vertebra|T10 vertebra|tenth dorsal vertebra http://purl.obolibrary.org/obo/UBERON_0004634 defined_by_ordinal_series UBERON:0004631 biolink:AnatomicalEntity thoracic vertebra 6 The sixth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. MA:0001443|UMLS:C0459949|NCIT:C33728|FMA:9945|EMAPA:19547 hp.json sixth dorsal vertebra|T6 vertebra|sixth thoracic vertebra http://purl.obolibrary.org/obo/UBERON_0004631 defined_by_ordinal_series UBERON:0004632 biolink:AnatomicalEntity thoracic vertebra 7 The seventh thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. UMLS:C0459947|NCIT:C33729|FMA:9968|EMAPA:19548|MA:0001444 hp.json seventh thoracic vertebra|T7 vertebra|seventh dorsal vertebra http://purl.obolibrary.org/obo/UBERON_0004632 defined_by_ordinal_series CHEBI:3892 biolink:ChemicalSubstance corticotropin A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency. Drug_Central:4931|DrugBank:DB01285|KEGG:C02017|KEGG:D00146|CAS:9002-60-2|CAS:9002-60-2 hp.json Corticotropin|corticotrophine|Adrenocorticotropic hormone|corticotropin|L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyl-L-alpha-aspartylglycyl-L-alanyl-L-alpha-glutamyl-L-alpha-aspartyl-L-alpha-glutamyl-L-seryl-L-alanyl-L-alpha-glutamyl-L-alanyl-L-phenylalanyl-L-prolyl-L-leucyl-L-alpha-glutamyl-L-phenylalanine|cortrophin|ACTH|SYSMEHFRWGKPVGKKRRPVKVYPDGAEDQLAEAFPLEF|corticotrofina|adrenocorticotropin|corticotrophinum http://purl.obolibrary.org/obo/CHEBI_3892 3_STAR UBERON:0004630 biolink:AnatomicalEntity thoracic vertebra 5 The fifth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. MA:0001442|NCIT:C33727|FMA:9922|EMAPA:19546|UMLS:C0459950 hp.json fifth thoracic vertebra|fifth dorsal vertebra|T5 vertebra http://purl.obolibrary.org/obo/UBERON_0004630 defined_by_ordinal_series CHEBI:35618 biolink:ChemicalSubstance aromatic ether Any ether in which the oxygen is attached to at least one aryl substituent. hp.json http://purl.obolibrary.org/obo/CHEBI_35618 3_STAR CHEBI:35617 biolink:ChemicalSubstance flavouring agent A food additive that is used to added improve the taste or odour of a food. hp.json flavour enhancer|flavour enhancers|flavouring agents|flavoring agents|flavoring agent http://purl.obolibrary.org/obo/CHEBI_35617 3_STAR UBERON:0002040 biolink:AnatomicalEntity bronchial artery A systemic artery that supplies the lung with with oxygenated blood. GAID:477|UMLS:C0006257|SCTID:244247009|Wikipedia:Bronchial_artery|OpenCyc:Mx4r4sy0UiNbEd2AAAACs6hRXg|FMA:68109|MESH:D001981|NCIT:C32230|EMAPA:18608|MA:0001923 hp.json arteriae bronchiales|arteriae bronchiales|bronchial arterial tree|rami bronchiales partis thoracicae aortae|rami bronchiales partis thoracicae aortae http://purl.obolibrary.org/obo/UBERON_0002040 human_reference_atlas|uberon_slim CHEBI:35610 biolink:ChemicalSubstance antineoplastic agent A substance that inhibits or prevents the proliferation of neoplasms. hp.json cytostatic|anticancer agents|antineoplastic|anticancer agent|antineoplastic agents http://purl.obolibrary.org/obo/CHEBI_35610 3_STAR UBERON:0002042 biolink:AnatomicalEntity lymphatic vessel endothelium An endothelium that is part of a lymphatic vessel [Automatically generated definition]. MESH:D004729|UMLS:C1180786|CALOHA:TS-2156|MA:0000750|ZFA:0005258|TAO:0005258|NCIT:C49258|BTO:0004303|EMAPA:35533|FMA:68444 hp.json lymph vessel endothelium|endothelium of lymphatic vessel|endothelium of lymph vessel|lymphatic endothelium|lymphatic vessel endothelium http://purl.obolibrary.org/obo/UBERON_0002042 vertebrate_core|pheno_slim|human_reference_atlas UBERON:0002049 biolink:AnatomicalEntity vasculature An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. BTO:0003718|ZFA:0005249|TAO:0005249|FMA:69050 hp.json vascular network http://purl.obolibrary.org/obo/UBERON_0002049 uberon_slim|vertebrate_core|pheno_slim|human_reference_atlas UBERON:0002048 biolink:AnatomicalEntity lung Respiration organ that develops as an outpocketing of the esophagus. MA:0000415|MESH:D008168|VHOG:0000310|galen:Lung|GAID:345|OpenCyc:Mx4rvVjKy5wpEbGdrcN5Y29ycA|EHDAA:2205|EFO:0000934|EHDAA:1554|NCIT:C12468|AAO:0010567|UMLS:C0024109|SCTID:181216001|MAT:0000135|EMAPA:16728|BTO:0000763|FMA:7195|AAO:0000275|CALOHA:TS-0568|Wikipedia:Lung|MIAA:0000135|XAO:0000119|EHDAA2:0001042|EV:0100042 hp.json pulmo http://purl.obolibrary.org/obo/UBERON_0002048 uberon_slim|major_organ|organ_slim|pheno_slim|efo_slim|human_reference_atlas CHEBI:23639 biolink:ChemicalSubstance deoxy sugar Any sugar having a hydroxy group replaced with a hydrogen atom. hp.json deoxy sugars|deoxysugars|deoxysugar http://purl.obolibrary.org/obo/CHEBI_23639 3_STAR UBERON:0002047 biolink:AnatomicalEntity pontine raphe nucleus The pontine raphe nucleus is one of the raphe nuclei. It is located in the pontine tegmentum. [WP,unvetted]. UMLS:C0175423|HBA:9159|BAMS:PnR|BAMS:RA-PONS|BIRNLEX:1110|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=589|BAMS:RPn|Wikipedia:Pontine_raphe_nucleus|DHBA:12475|MBA:238|MA:0001022|DHBA:12471|FMA:68875 hp.json raphe pontis|nucleus raphes pontis|raphe (mediana pontina)|nucleus raphes pontis|nucleus raphe pontis|raphe pontis nucleus|raphe of pons http://purl.obolibrary.org/obo/UBERON_0002047 uberon_slim|pheno_slim UBERON:0002046 biolink:AnatomicalEntity thyroid gland A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. MA:0000129|UMLS:C0040132|CALOHA:TS-1047|FMA:9603|MAT:0000081|EHDAA:2975|GAID:465|EMAPA:17068|EHDAA:2148|AAO:0010544|EHDAA2:0002028|VHOG:0000418|MIAA:0000081|NCIT:C12400|XAO:0000162|MESH:D013961|BTO:0001379|EV:0100133|EFO:0000861|OpenCyc:Mx4rvVjLT5wpEbGdrcN5Y29ycA|galen:ThyroidGland hp.json glandula thyroidea|thyroid http://purl.obolibrary.org/obo/UBERON_0002046 uberon_slim|organ_slim|pheno_slim|efo_slim UBERON:0002030 biolink:AnatomicalEntity nipple Projection of skin containing the outlets for 15-20 lactiferous ducts arranged cylindrically around the tip. FMA:67771|OpenCyc:Mx4rvVjKi5wpEbGdrcN5Y29ycA|CALOHA:TS-2234|MA:0000796|BTO:0000821|EMAPA:36508|NCIT:C12299|GAID:35|MESH:D009558|UMLS:C0028109|galen:Nipple hp.json papillary part of breast|thelium|papilla of breast|papilla mammae|teat|papilla mammaria|thele http://purl.obolibrary.org/obo/UBERON_0002030 uberon_slim|pheno_slim CHEBI:35621 biolink:ChemicalSubstance alpha-aminobutyric acid An alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2. Reaxys:635889|DrugBank:DB04454|PMID:22264337|CAS:2835-81-6|PMID:22770225|PMID:11958629|MetaCyc:CPD-3686|Gmelin:217679|PMID:22061039|PMID:15246869|Beilstein:635889|CAS:2835-81-6|Wikipedia:Alpha-Aminobutyric_acid|PMID:20551690 hp.json homoalanine|alpha-amino-n-butyric acid|butyrine|2-amino-n-butyric acid|AABA|alpha-aminobutyric acid|Abu|2-aminobutyric acid|2-aminobutanoic acid http://purl.obolibrary.org/obo/CHEBI_35621 3_STAR UBERON:0002032 biolink:AnatomicalEntity areola Subdivision of breast which consists of skin, connective tissue and smooth muscle bundle and modified sebaceous glands and which surrounds the nipple. OpenCyc:Mx4rvrcOL5wpEbGdrcN5Y29ycA|FMA:67796|UMLS:C0222608|MA:0000788|NCIT:C12368 hp.json areola mammae|areolae http://purl.obolibrary.org/obo/UBERON_0002032 uberon_slim|pheno_slim GO:0140131 biolink:BiologicalProcess positive regulation of lymphocyte chemotaxis Any process that activates or increases the frequency, rate or extent of lymphocyte chemotaxis. hp.json http://purl.obolibrary.org/obo/GO_0140131 UBERON:0002031 biolink:AnatomicalEntity epithelium of bronchus An epithelium that is part of a bronchus [Automatically generated definition]. FMA:67782|EMAPA:32691|EFO:0000307|BTO:0001845|UMLS:C0599333|CALOHA:TS-1240|NCIT:C32231|MA:0001839 hp.json epithelium of bronchial trunk|bronchi epithelium|epithelial tissue of bronchi|epithelial tissue of bronchial trunk|bronchi epithelial tissue|bronchial trunk epithelial tissue|bronchus epithelial tissue|bronchial epithelium|bronchus epithelium|epithelial tissue of bronchus|epithelium of bronchi|bronchial trunk epithelium http://purl.obolibrary.org/obo/UBERON_0002031 pheno_slim|efo_slim CHEBI:35620 biolink:ChemicalSubstance vasodilator agent A drug used to cause dilation of the blood vessels. hp.json vasodilator agents|vasodilator http://purl.obolibrary.org/obo/CHEBI_35620 3_STAR UBERON:0004692 biolink:AnatomicalEntity external naris epithelium An epithelium that is part of an external naris [Automatically generated definition]. MA:0001321|EMAPA:18596 hp.json http://purl.obolibrary.org/obo/UBERON_0004692 CHEBI:35623 biolink:ChemicalSubstance anticonvulsant A drug used to prevent seizures or reduce their severity. hp.json anti-convulsive agent|antiepileptics|anticonvulsive agents|anti-convulsant|anti-convulsants|anticonvulsive agent|Antiepileptika|Antikonvulsiva|Antiepileptikum|antiepileptic|Antikonvulsivum|anti-convulsive agents|anticonvulsants|antiepileptiques|antiepileptique http://purl.obolibrary.org/obo/CHEBI_35623 3_STAR UBERON:0002038 biolink:AnatomicalEntity substantia nigra Predominantly gray matter midbrain structure lying dorsal to the crus cerebri and ventral to the midbrain tegmentum. It is divided into a dorsal, cellularly compact region known as the pars compacta and a more ventrally located, containing more loosely packed cells, the pars reticulata. The most lateral region of the reticulata is identified as the pars lateralis (MM). UMLS:C0038590|HBA:9072|BTO:0000143|UMLS:C0038590|BAMS:SN|VHOG:0001573|UMLS:C1269578|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=536|MAT:0000504|CALOHA:TS-0990|EFO:0000922|MA:0000210|EV:0100247|FMA:67947|BIRNLEX:789|EHDAA2:0004711|MESH:D013378|GAID:581|NCIT:C12453|EMAPA:35835|DHBA:12251 hp.json nucleus pigmentosus subthalamo-peduncularis|SN|substancia nigra|nucleus of basis pedunculi|substantia nigra (Soemmerringi)|Soemmering's substance http://purl.obolibrary.org/obo/UBERON_0002038 human_reference_atlas|efo_slim|uberon_slim|pheno_slim UBERON:0002037 biolink:AnatomicalEntity cerebellum Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=643|BAMS:CB|BAMS:Cb|UMLS:C0007765|BTO:0000232|OpenCyc:Mx4rvl1eipwpEbGdrcN5Y29ycA|HBA:4696|MIAA:0000110|BIRNLEX:1489|EV:0100293|CALOHA:TS-0125|VHOG:0000024|DHBA:10656|EMAPA:17787|BM:CB|EFO:0000327|GAID:595|ZFA:0000100|NCIT:C12445|MA:0000198|TAO:0000100|MBA:512|XAO:0003098|EHDAA2:0000232|FMA:67944|MESH:D002531|AAO:0010485|MAT:0000110|UMLS:C0007765|UMLS:C1268981 hp.json epencephalon-1|infratentorial region|parencephalon|corpus cerebelli http://purl.obolibrary.org/obo/UBERON_0002037 efo_slim|human_reference_atlas|uberon_slim|vertebrate_core|pheno_slim UBERON:0004699 biolink:AnatomicalEntity outflow tract endothelium An endothelium that is part of a outflow tract [Automatically generated definition]. VHOG:0001524|MA:0000490 hp.json http://purl.obolibrary.org/obo/UBERON_0004699 UBERON:0004698 biolink:AnatomicalEntity vena cava endothelium An endothelium that is part of a vena cava [Automatically generated definition]. MA:0000713|NCIT:C49318|EMAPA:37800|UMLS:C1710623 hp.json http://purl.obolibrary.org/obo/UBERON_0004698 UBERON:0002033 biolink:AnatomicalEntity arrector muscle of hair A tiny smooth muscle that connects the hair follicle with the dermis. MA:0000778|EMAPA:26775|BTO:0005132|FMA:67821 hp.json arrector pili smooth muscle|erector pili|arectores pilorum|arrector pili muscle|arrector pilli muscle|arrector pilli|arrector pili|pilomotor muscle|erectores pilorum|arrector pilorum|arrector pilorum muscle of hair http://purl.obolibrary.org/obo/UBERON_0002033 uberon_slim|pheno_slim UBERON:0002036 biolink:AnatomicalEntity striated muscle tissue Muscle tissue that contains fibers that are divided by transverse bands into striations. UMLS:C1331262|Wikipedia:Striated_muscle|EHDAA2:0003140|MA:0002438|CALOHA:TS-2047|AEO:0000140|FMA:67905|NCIT:C12436|galen:StriatedMuscle|AAO:0010762|OpenCyc:Mx4rwAoze5wpEbGdrcN5Y29ycA|WBbt:0005779|EMAPA:36390 hp.json striated muscle http://purl.obolibrary.org/obo/UBERON_0002036 uberon_slim|pheno_slim UBERON:0004695 biolink:AnatomicalEntity arterial system smooth muscle A portion of smooth muscle tissue that is part of an arterial system [Automatically generated definition]. MA:0000704|EMAPA:36503 hp.json http://purl.obolibrary.org/obo/UBERON_0004695 human_reference_atlas UBERON:0004696 biolink:AnatomicalEntity venous system smooth muscle A portion of smooth muscle tissue that is part of a venous system [Automatically generated definition]. MA:0000715|EMAPA:36613 hp.json http://purl.obolibrary.org/obo/UBERON_0004696 human_reference_atlas UBERON:0002019 biolink:AnatomicalEntity accessory XI nerve A cranial nerve that originates from neurons in the medulla and in the cervical spinal cord. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2085|HBA:9340|MA:0001088|AAO:0010476|BAMS:11n|BAMS:XIn|MESH:D000055|GAID:825|VHOG:0000699|FMA:80284|NCIT:C32041|SCTID:362469008|MBA:717|EHDAA:2855|FMA:6720|UMLS:C0000905|Wikipedia:Spinal_accessory_nerve|EHDAA2:0000106|UMLS:C1305777|XAO:0004214|OpenCyc:Mx4rwTEwI5wpEbGdrcN5Y29ycA|UMLS:C0000905|BIRNLEX:812|EMAPA:17265 hp.json accessory spinal nerve|CN-XI|accessory XI nerve|cervical accessory nerve|cranial nerve XI|accessory nerve [XI]|Willis' nerve|spinal accessory nerve tree|accessory XI|nervus accessorius [XI]|radix spinalis nervus accessorius|eleventh cranial nerve|spinal part of accessory nerve|pars spinalis nervus accessorius|accessory nerve|spinal accessory nerve http://purl.obolibrary.org/obo/UBERON_0002019 pheno_slim|uberon_slim UBERON:0002020 biolink:AnatomicalEntity gray matter A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. AEO:0001012|FMA:67242|MESH:D066128|MA:0001112|NCIT:C32695|Wikipedia:Gray_matter|OpenCyc:Mx4rwDdKMpwpEbGdrcN5Y29ycA|ZFA:0001681|UMLS:C0018220|VHOG:0001768|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2869|EHDAA2:0003136|EHDAA2_RETIRED:0004658|HBA:4006|EMAPA:37596|TAO:0002197 hp.json gray mater|grey matter|neuronal grey matter|grey matter of neuraxis|grisea|grey substance|gray matter of neuraxis|gray matter|substantia grisea http://purl.obolibrary.org/obo/UBERON_0002020 uberon_slim|vertebrate_core|pheno_slim UBERON:0004681 biolink:AnatomicalEntity vestibular system The sensory system for the sense of balance. BTO:0003381|NLXANAT:090819|EMAPA:37986|FMA:7193 hp.json vestibulomotor system|vestibular organ system|vestibular system|equilibrioception system http://purl.obolibrary.org/obo/UBERON_0004681 pheno_slim UBERON:0002027 biolink:AnatomicalEntity stratum corneum of epidermis The outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells. EMAPA:32787|BTO:0000344|MA:0000804|FMA:67545|UMLS:C0221921|NCIT:C33625|CALOHA:TS-0981|AAO:0010597 hp.json horny layer|keratinized squame layer|keratinized squame layer of epidermis|stratum corneum|stratum corneum epidermidis|epidermis stratum corneum|cornified layer|horny layer of epidermis http://purl.obolibrary.org/obo/UBERON_0002027 human_reference_atlas|pheno_slim UBERON:0002026 biolink:AnatomicalEntity stratum spinosum of epidermis The layer of polyhedral cells in the epidermis found between the stratum granulosum and stratum basale; shrinkage and adhesion of these cells gives a spiny or prickly appearance. EMAPA:32785|FMA:67542|UMLS:C0221924|MA:0000807|BTO:0000435|NCIT:C12850 hp.json Malpighian layer|squamous cell layer of epidermis|stratum spinosum|epidermis prickle cell layer|prickle cell layer of epidermis|prickle cell layer|stratum Malpighii|epidermis stratum spinosum http://purl.obolibrary.org/obo/UBERON_0002026 human_reference_atlas|pheno_slim UBERON:0002029 biolink:AnatomicalEntity epithelium of gall bladder The simple columnar epithelial lining of the gall bladder. UMLS:C1180206|FMA:67711|CALOHA:TS-1304|MA:0001632|BTO:0001449|EMAPA:35370|NCIT:C49227 hp.json gall bladder epithelial tissue|epithelial tissue of gallbladder|gallbladder epithelial tissue|epithelial tissue of gall bladder|biliary epithelium|gallbladder epithelium|gall bladder epithelium|epithelium of gallbladder http://purl.obolibrary.org/obo/UBERON_0002029 pheno_slim UBERON:0004688 biolink:AnatomicalEntity costo-cervical trunk The costocervical trunk arises from the upper and back part of the subclavian artery, behind the scalenus anterior on the right side, and medial to that muscle on the left side. Passing backward, it splits into the deep cervical artery and the supreme intercostal artery (or the Highest intercostal artery), which descends behind the pleura in front of the necks of the first and second ribs, and anastomoses with the first aortic intercostal (3rd posterior intercostal artery). As it crosses the neck of the first rib it lies medial to the anterior division of the first thoracic nerve, and lateral to the first thoracic ganglion of the sympathetic trunk. In the first intercostal space, it gives off a branch which is distributed in a manner similar to the distribution of the aortic intercostals. The branch for the second intercostal space usually joins with one from the highest aortic intercostal artery. This branch is not constant, but is more commonly found on the right side; when absent, its place is supplied by an intercostal branch from the aorta. Each intercostal gives off a posterior branch which goes to the posterior vertebral muscles, and sends a small spinal branch through the corresponding intervertebral foramen to the medulla spinalis and its membranes. [WP,unvetted]. EMAPA:37496|Wikipedia:Costocervical_trunk|SCTID:244225009|FMA:10636|MA:0001939 hp.json truncus costocervicalis|trunk of costocervical artery|costocervical trunk|truncus costocervicalis http://purl.obolibrary.org/obo/UBERON_0004688 human_reference_atlas UBERON:0002028 biolink:AnatomicalEntity hindbrain The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. MA:0000195|EHDAA:6487|FMA:67687|BTO:0000672|CALOHA:TS-0457|UMLS:C1522180|ZFA:0000029|AAO:0010150|NCIT:C40336|XAO:0000015|EHDAA2:0000746|BAMS:HB|TAO:0000029|EHDAA:3514|UMLS:C0035507|MAT:0000107|DHBA:10653|EFO:0000923|SCTID:303456008|MESH:D012249|MBA:1065|MIAA:0000107|BIRNLEX:942|DMBA:16808|VHOG:0000070|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=540|EMAPA:16916|UMLS:C0035507|Wikipedia:Rhombencephalon hp.json rhombencephalon http://purl.obolibrary.org/obo/UBERON_0002028 pheno_slim|human_reference_atlas|efo_slim|uberon_slim|vertebrate_core UBERON:0002025 biolink:AnatomicalEntity stratum basale of epidermis The deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells. MA:0000803|ZFA:0001180|FMA:67540|TAO:0001180|NCIT:C33623|BTO:0000438|Wikipedia:Stratum_germinativum|NCIT:C33466|EMAPA:32779|AAO:0010598|SCTID:419481005|XAO:0000041|UMLS:C0221925 hp.json Malpighian layer|stratum basalis of epidermis|stratum Malpighi|epidermis stratum basale|basal layer of epidermis|basal cell layer of skin|basal epidermal layer|stratum germinosum|epidermis sensorial layer|epidermal basal stratum|Malpighian layer|epidermis stratum germinativum|epidermis basal layer|stratum basale|stratum germinosum of epidermis|rete Malphighii|rete Malpighii|stratum germinativum|basal cell layer of epidermis|stratum Malpighi http://purl.obolibrary.org/obo/UBERON_0002025 human_reference_atlas|uberon_slim|pheno_slim UBERON:0004684 biolink:AnatomicalEntity raphe nuclei The raphe nuclei are thin plates of cells in and immediately adjacent to the sagittal plane. EMAPA:35721|BAMS:RA|MESH:D011903|TAO:0001429|UMLS:C0034671|NCIT:C97335|NLXANAT:20090205|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2495|MA:0003147|FMA:84017|Wikipedia:Raphe_nuclei|ZFA:0001429 hp.json set of raphe nuclei|raphe cluster|nuclei raphes|raphe nuclei set|nuclei raphes|raphe nuclei|nuclei raphes|raphe of mesenchephalon|raphe cluster|raphe nuclei|raphe nucleus http://purl.obolibrary.org/obo/UBERON_0004684 vertebrate_core UBERON:0002008 biolink:AnatomicalEntity cardiac nerve plexus A plexus of nerves situated at the base of the heart that innervate the heart. FMA:6628|NCIT:C52833|UMLS:C0459528|EMAPA:37460|MA:0001138 hp.json autonomic plexus of heart|heart autonomic nerve plexus|plexus cardiacus|autonomic nerve plexus of heart|cardiac plexus|heart autonomic plexus http://purl.obolibrary.org/obo/UBERON_0002008 uberon_slim CHEBI:23622 biolink:ChemicalSubstance deoxygalactose hp.json deoxygalactoses|deoxygalactose http://purl.obolibrary.org/obo/CHEBI_23622 3_STAR CHEBI:35605 biolink:ChemicalSubstance carbon oxoacid hp.json carbon oxoacids|oxoacids of carbon http://purl.obolibrary.org/obo/CHEBI_35605 3_STAR CHEBI:35604 biolink:ChemicalSubstance carbon oxoanion A negative ion consisting solely of carbon and oxygen atoms, and therefore having the general formula CxOy(n-) for some integers x, y and n. hp.json oxocarbon anion|carbon oxoanion|carbon oxoanions|oxocarbon anions http://purl.obolibrary.org/obo/CHEBI_35604 3_STAR UBERON:0002016 biolink:AnatomicalEntity pulmonary vein Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO]. galen:PulmonaryVein|FMA:66643|EHDAA:2629|Wikipedia:Pulmonary_vein|CALOHA:TS-0840|EMAPA:18645|VHOG:0001133|MA:0002206|GAID:543|MESH:D011667|EHDAA2:0001579|SCTID:430160002|NCIT:C12776|UMLS:C0034090|AAO:0010521|XAO:0000394|BTO:0001799 hp.json venae pulmonales|pulmonary venous tree organ part|venae pulmonales http://purl.obolibrary.org/obo/UBERON_0002016 pheno_slim|human_reference_atlas|uberon_slim UBERON:0004679 biolink:AnatomicalEntity dentate gyrus molecular layer The molecular layer of the dentate gyrus that is bounded by the pial surface superficially and the dentate gyrus granule cell layer deep. It is divided into 2 or more sublayers. MA:0003122|BAMS:mo|BAMS:Mol|EMAPA:35279|BIRNLEX:4127|MBA:10703|FMA:83677 hp.json molecular layer of the dentate gyrus|molecular layer of dentate gyrus|stratum moleculare gyri dentati|dentate gyrus molecular layer http://purl.obolibrary.org/obo/UBERON_0004679 UBERON:0002015 biolink:AnatomicalEntity kidney capsule The tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage. MA:0000370|FMA:66610|galen:CapsuleOfKidney|EMAPA:18679|UMLS:C0227637|NCIT:C12885 hp.json fibrous capsule of kidney|capsule of kidney|renal capsule|capsula fibrosa renis http://purl.obolibrary.org/obo/UBERON_0002015 pheno_slim|human_reference_atlas|uberon_slim SO:0001217 biolink:SequenceFeature protein_coding_gene hp.json protein coding gene http://purl.obolibrary.org/obo/SO_0001217 CHEBI:23628 biolink:ChemicalSubstance deoxyhexose Any C6 deoxy sugar having at least one hydroxy group replaced by hydrogen. hp.json deoxyhexoses|deoxyhexose http://purl.obolibrary.org/obo/CHEBI_23628 3_STAR UBERON:0002017 biolink:AnatomicalEntity portal vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. CALOHA:TS-0814|NCIT:C33343|XAO:0000392|MA:0002198|EHDAA2:0001485|EHDAA:6510|FMA:66645|VHOG:0000656|OpenCyc:Mx4rv_bem5wpEbGdrcN5Y29ycA|UMLS:C0032718|BTO:0001792|EMAPA:17349|galen:PortalVein|GAID:540|MESH:D011169 hp.json portal venous tree organ part http://purl.obolibrary.org/obo/UBERON_0002017 pheno_slim|uberon_slim UBERON:0002012 biolink:AnatomicalEntity pulmonary artery An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.. EFO:0001399|MA:0002031|XAO:0004162|GAID:505|EHDAA:4351|VHOG:0000982|EMAPA:17008|OpenCyc:Mx4rvVjbIpwpEbGdrcN5Y29ycA|galen:PulmonaryArtery|CALOHA:TS-0839|UMLS:C0034052|BTO:0000778|NCIT:C12774|EHDAA2:0001575|MESH:D011651|Wikipedia:Pulmonary_artery|AAO:0010221|SCTID:181380003|FMA:66326 hp.json pulmonary arterial tree|arteria pulmonalis|pulmonary arterial subtree|truncus pulmonalis|arteria pulmonalis|pulmonary arterial tree organ part|truncus pulmonalis http://purl.obolibrary.org/obo/UBERON_0002012 efo_slim|uberon_slim|pheno_slim UBERON:0002011 biolink:AnatomicalEntity thoracodorsal artery The thoracodorsal artery is a branch of the subscapular artery. It travels inferiorly with the thoracodorsal nerve and supplies the latissimus dorsi. [WP,unvetted]. FMA:66320|NCIT:C53018|EMAPA:37129|UMLS:C0933449|MA:0002065 hp.json arteria thoracodorsalis http://purl.obolibrary.org/obo/UBERON_0002011 human_reference_atlas|uberon_slim GO:0007350 biolink:BiologicalProcess blastoderm segmentation The hierarchical steps resulting in the progressive subdivision of the anterior/posterior axis of the embryo. hp.json http://purl.obolibrary.org/obo/GO_0007350 HP:0041060 biolink:PhenotypicFeature Chronic partially decreased circulating IgG4 A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood. hp.json Chronic partially decreased IgG4 in blood http://purl.obolibrary.org/obo/HP_0041060 GO:0044307 biolink:CellularComponent dendritic branch A dendrite arising from another dendrite. NIF_Subcellular:sao884265541 hp.json dendrite branch|secondary dendrite http://purl.obolibrary.org/obo/GO_0044307 HP:0041061 biolink:PhenotypicFeature Fractured calcaneus A partial or complete breakage of the calcaneus. hp.json bone calcaneus http://purl.obolibrary.org/obo/HP_0041061 UBERON:0004701 biolink:AnatomicalEntity venous system endothelium An endothelium that is part of a venous system [Automatically generated definition]. MA:0000714|NCIT:C49320|UMLS:C1710626|EMAPA:35907 hp.json http://purl.obolibrary.org/obo/UBERON_0004701 HP:0041064 biolink:PhenotypicFeature Fractured knee A partial or complete breakage of the knee. hp.json bone knee http://purl.obolibrary.org/obo/HP_0041064 UBERON:0004702 biolink:AnatomicalEntity respiratory system blood vessel endothelium A blood vessel endothelium that is part of a respiratory system [Automatically generated definition]. MA:0001805|EMAPA:35732 hp.json http://purl.obolibrary.org/obo/UBERON_0004702 HP:0041065 biolink:PhenotypicFeature Chronic (near) absent circulating IgG2 A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured. hp.json Chronic (near) absent IgG2 in blood http://purl.obolibrary.org/obo/HP_0041065 HP:0041062 biolink:PhenotypicFeature Transient decreased circulating IgG2 A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation. hp.json Transient decreased IgG2 in blood http://purl.obolibrary.org/obo/HP_0041062 UBERON:0004700 biolink:AnatomicalEntity arterial system endothelium An endothelium that is part of an arterial system [Automatically generated definition]. MA:0000703|UMLS:C1706849|EMAPA:35145|NCIT:C49329 hp.json http://purl.obolibrary.org/obo/UBERON_0004700 HP:0041063 biolink:PhenotypicFeature Chronic decreased cirulating IgG2 A lasting decrease of immunoglobulin G2 (IgG2) in the blood. hp.json Chronic decreased IgG2 in blood http://purl.obolibrary.org/obo/HP_0041063 HP:0041068 biolink:PhenotypicFeature Chronic decreased circulating IgG1 A lasting decrease of immunoglobulin G1 (IgG1) in the blood. hp.json Chronic decreased IgG1 in blood http://purl.obolibrary.org/obo/HP_0041068 HP:0041069 biolink:PhenotypicFeature Chronic (near) absent circulating IgG1 A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured. hp.json Chronic (near) absent IgG1 in blood http://purl.obolibrary.org/obo/HP_0041069 HP:0041066 biolink:PhenotypicFeature Chronic partially decreased circulating IgG2 A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood. hp.json Chronic partially decreased IgG2 in blood http://purl.obolibrary.org/obo/HP_0041066 HP:0041067 biolink:PhenotypicFeature Transient decreased circulating IgG1 A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation. hp.json Transient decreased IgG1 in blood http://purl.obolibrary.org/obo/HP_0041067 GO:0007369 biolink:BiologicalProcess gastrulation A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. Wikipedia:Gastrulation hp.json http://purl.obolibrary.org/obo/GO_0007369 goslim_drosophila HP:0041071 biolink:PhenotypicFeature Transient decreased circulating IgG3 A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation. hp.json Transient decreased IgG3 in blood http://purl.obolibrary.org/obo/HP_0041071 HP:0041072 biolink:PhenotypicFeature Chronic decreased circulating IgG3 A lasting decrease of immunoglobulin G3 (IgG3) in the blood. hp.json Chronic decreased IgG3 in blood http://purl.obolibrary.org/obo/HP_0041072 HP:0041070 biolink:PhenotypicFeature Chronic partially decreased circulating IgG1 A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood. hp.json Chronic partially decreased IgG1 in blood http://purl.obolibrary.org/obo/HP_0041070 HP:0041075 biolink:PhenotypicFeature Chronic partially decreased circulating IgG3 A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood. hp.json Chronic partially decreased IgG3 in blood http://purl.obolibrary.org/obo/HP_0041075 HP:0041076 biolink:PhenotypicFeature Abnormal immunoglobulin level in body fluid An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous. hp.json http://purl.obolibrary.org/obo/HP_0041076 HP:0041073 biolink:PhenotypicFeature Fractured thoracic vertebra A partial or complete breakage of the thoracic vertebra. hp.json bone thoracic vertebra http://purl.obolibrary.org/obo/HP_0041073 HP:0041074 biolink:PhenotypicFeature Chronic (near) absent circulating IgG3 A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured. hp.json Chronic (near) absent IgG3 in blood http://purl.obolibrary.org/obo/HP_0041074 HP:0041079 biolink:PhenotypicFeature Decreased body fat percentage The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males. hp.json Decreased adipose tissue percentage http://purl.obolibrary.org/obo/HP_0041079 HP:0041077 biolink:PhenotypicFeature Increased immunoglobulin level in body fluid An elevation from normal levels of immunoglobulins in body fluids, such as mucous. hp.json http://purl.obolibrary.org/obo/HP_0041077 HP:0041078 biolink:PhenotypicFeature Decreased immunoglobulin level in body fluid An reduction from normal levels of immunoglobulins in body fluids, such as mucous. hp.json http://purl.obolibrary.org/obo/HP_0041078 GO:0007338 biolink:BiologicalProcess single fertilization The union of male and female gametes to form a zygote. hp.json zygote formation|zygote biosynthesis http://purl.obolibrary.org/obo/GO_0007338 GO:0009991 biolink:BiologicalProcess response to extracellular stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus. hp.json http://purl.obolibrary.org/obo/GO_0009991 GO:0019319 biolink:BiologicalProcess hexose biosynthetic process The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule. hp.json hexose anabolism|hexose synthesis|hexose formation|hexose biosynthesis http://purl.obolibrary.org/obo/GO_0019319 CHEBI:59561 biolink:ChemicalSubstance diamino acid anion An organic anion that is the conjugate base of diamino acid. hp.json diamino acid anions http://purl.obolibrary.org/obo/CHEBI_59561 3_STAR GO:0009994 biolink:BiologicalProcess oocyte differentiation The process in which a relatively unspecialized immature germ cell acquires the specialized features of a mature female gamete. hp.json oocyte cell differentiation http://purl.obolibrary.org/obo/GO_0009994 HP:0041082 biolink:PhenotypicFeature Fractured skull A partial or complete breakage of the skull. hp.json http://purl.obolibrary.org/obo/HP_0041082 HP:0041083 biolink:PhenotypicFeature Fractured phalanx A partial or complete breakage of the phalanx. hp.json bone phalanx http://purl.obolibrary.org/obo/HP_0041083 GO:0019318 biolink:BiologicalProcess hexose metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. hp.json hexose metabolism http://purl.obolibrary.org/obo/GO_0019318 HP:0041080 biolink:PhenotypicFeature Abnormal proportion of exhausted T cells A deviation from the normal proportion of exhausted T cell relative to T cell in the blood. hp.json http://purl.obolibrary.org/obo/HP_0041080 GO:0071944 biolink:CellularComponent cell periphery The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. hp.json http://purl.obolibrary.org/obo/GO_0071944 goslim_flybase_ribbon HP:0041081 biolink:PhenotypicFeature Fractured lower leg Bone fracture anywhere in the tibia, fibula, or ankle. hp.json Fracture of the lower leg|Lower limb fracture|Lower extremity fracture http://purl.obolibrary.org/obo/HP_0041081 HP:0004097 biolink:PhenotypicFeature Deviation of finger Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. SNOMEDCT_US:203556007|SNOMEDCT_US:26517000|UMLS:C0410740 hp.json Finger pointing in a different direction than usual|Deviated fingers|Atypical position of finger http://purl.obolibrary.org/obo/HP_0004097 HP:0041086 biolink:PhenotypicFeature Compression-fractured cervical vertebra A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. hp.json Wedge fractured cervical vertebra|Compression fractured cervical vertebra http://purl.obolibrary.org/obo/HP_0041086 HP:0041087 biolink:PhenotypicFeature Compression-fractured lumbar vertebra A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. hp.json Compression fractured lumbar vertebra|Wedge fractured lumbar vertebra http://purl.obolibrary.org/obo/HP_0041087 HP:0004095 biolink:PhenotypicFeature Curved fingers UMLS:C4025413 hp.json Curved fingers http://purl.obolibrary.org/obo/HP_0004095 HP:0041084 biolink:PhenotypicFeature Compression-fractured thoracic vertebra A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. hp.json Compression fractured thoracic vertebra|Wedge fractured thoracic vertebra http://purl.obolibrary.org/obo/HP_0041084 HP:0041085 biolink:PhenotypicFeature Compression-fractured vertebra A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. hp.json Wedge fractured vertebra|Compression fractured vertebra http://purl.obolibrary.org/obo/HP_0041085 HP:0004099 biolink:PhenotypicFeature Macrodactyly Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. MEDDRA:10025386|MSH:C562546|SNOMEDCT_US:48449000|UMLS:C0265552 hp.json Finger overgrowth|Megalodactyly http://purl.obolibrary.org/obo/HP_0004099 hposlim_core HP:0041088 biolink:PhenotypicFeature Avulsion fractured humerus A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma. hp.json http://purl.obolibrary.org/obo/HP_0041088 HP:0041089 biolink:PhenotypicFeature Avulsion fractured tibia A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma. hp.json http://purl.obolibrary.org/obo/HP_0041089 GO:0007346 biolink:BiologicalProcess regulation of mitotic cell cycle Any process that modulates the rate or extent of progress through the mitotic cell cycle. hp.json mitotic cell cycle modulation|mitotic cell cycle regulation|modulation of mitotic cell cycle progression|regulation of progression through mitotic cell cycle|regulation of mitotic cell cycle progression|mitotic cell cycle regulator http://purl.obolibrary.org/obo/GO_0007346 GO:0007343 biolink:BiologicalProcess egg activation The process in which the egg becomes metabolically active, initiates protein and DNA synthesis and undergoes structural changes to its cortex and/or cytoplasm. Wikipedia:Egg_activation hp.json http://purl.obolibrary.org/obo/GO_0007343 HP:0041090 biolink:PhenotypicFeature obsolete Avulsion fractured pelvic region of trunk hp.json http://purl.obolibrary.org/obo/HP_0041090 HP:0041093 biolink:PhenotypicFeature Beau's lines A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease. hp.json Beau lines|Ladder nail|Ladder nail sign http://purl.obolibrary.org/obo/HP_0041093 HP:0041094 biolink:PhenotypicFeature Complete tracheal ring Continuous or nearly continuous configuration of the cartilaginous tracheal ring. hp.json Complete tracheal rings|CTRD|Complete tracheal ring deformity http://purl.obolibrary.org/obo/HP_0041094 HP:0041091 biolink:PhenotypicFeature Avulsion fractured epiphysis of femur A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma. hp.json http://purl.obolibrary.org/obo/HP_0041091 HP:0041092 biolink:PhenotypicFeature Emotional hypersensitivity Heightened emotional reactivity to environmental stimuli, including emotions of others. hp.json Highly sensitive|Hypersensitivity|Overly sensitive http://purl.obolibrary.org/obo/HP_0041092 HP:0041095 biolink:PhenotypicFeature Decreased middle cerebral artery pulsatility index Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity. hp.json http://purl.obolibrary.org/obo/HP_0041095 CHEBI:59558 biolink:ChemicalSubstance medium-chain fatty acid anion A fatty acid anion resulting from the deprotonation of the carboxylic acid moiety of a medium-chain fatty acid. hp.json medium-chain fatty acid anions|medium-chain FA anion|MCFA anion|a medium chain fatty acid|MCFA anions|medium-chain FA anions http://purl.obolibrary.org/obo/CHEBI_59558 3_STAR CHEBI:59554 biolink:ChemicalSubstance medium-chain fatty acid Any fatty acid with a chain length of between C6 and C12. hp.json MCFA|medium-chain fatty acids|MCFAs http://purl.obolibrary.org/obo/CHEBI_59554 3_STAR UBERON:0004739 biolink:AnatomicalEntity pronephric glomerulus The glomus forms from the splanchnic intermediate mesoderm and is the vascularized filtration unit, filtering the blood before it enters the tubules. The glomus is external to the nephron and extends over more than one body segment. ZFA:0001557|TAO:0001557|AAO:0011049|XAO:0000318|VHOG:0001237 hp.json glomus|pronephric glomeruli|glomera|corpuscle|pronephric glomus|pronephric glomera|glomerulus of pronephros http://purl.obolibrary.org/obo/UBERON_0004739 UBERON:0004736 biolink:AnatomicalEntity metanephric glomerulus Glomerulus of the mature vertebrate kidney, or metanephros. VHOG:0001242 hp.json glomerulus of metanephros http://purl.obolibrary.org/obo/UBERON_0004736 UBERON:0004737 biolink:AnatomicalEntity metanephric collecting duct A collecting duct of renal tubule that is part of a metanephros [Automatically generated definition]. VHOG:0000983 hp.json collecting duct of metanephros|metanephric collecting tubule http://purl.obolibrary.org/obo/UBERON_0004737 GO:0044346 biolink:BiologicalProcess fibroblast apoptotic process Any apoptotic process in a fibroblast, a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. hp.json fibroblast apoptosis http://purl.obolibrary.org/obo/GO_0044346 GO:0010966 biolink:BiologicalProcess regulation of phosphate transport Any process that modulates the frequency, rate or extent of phosphate transport. Phosphate transport is the directed movement of phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0010966 GO:0010968 biolink:BiologicalProcess regulation of microtubule nucleation Any process that modulates the rate, frequency or extent of microtubule nucleation. Microtubule nucleation is the 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates, some of which go on to support formation of a complete microtubule. Microtubule nucleation usually occurs from a specific site within a cell. hp.json http://purl.obolibrary.org/obo/GO_0010968 GO:0010962 biolink:NamedThing regulation of glucan biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0010962 GO:0010960 biolink:BiologicalProcess magnesium ion homeostasis Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0010960 PR:P09923 biolink:Protein intestinal-type alkaline phosphatase (human) An intestinal alkaline phosphatase that is encoded in the genome of human. UniProtKB:P09923 hp.json hALPI|IAP (human)|intestinal alkaline phosphatase (human)|ALPI http://purl.obolibrary.org/obo/PR_P09923 CHEBI:35571 biolink:ChemicalSubstance mancude organic heterocyclic parent hp.json mancude organic heterocyclic parents|mancude-ring organic heterocyclic parents http://purl.obolibrary.org/obo/CHEBI_35571 3_STAR UBERON:0004742 biolink:AnatomicalEntity dentary The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]. VHOG:0001022|EFO:0003508|http://palaeos.com/vertebrates/bones/dermal/images/Dentary1.gif|AAO:0000124|ZFA:0000191|TAO:0000191 hp.json dentaries|dentary bone|os dentale|dentale|sur-angulaire http://purl.obolibrary.org/obo/UBERON_0004742 efo_slim CHEBI:35570 biolink:ChemicalSubstance mancude organic heterobicyclic parent hp.json mancude organic heterobicyclic parents|mancude-ring organic heterobicyclic parents http://purl.obolibrary.org/obo/CHEBI_35570 3_STAR CHEBI:35573 biolink:ChemicalSubstance organic mancude parent hp.json organic mancude parents|organic mancude-ring parents http://purl.obolibrary.org/obo/CHEBI_35573 3_STAR UBERON:0004727 biolink:AnatomicalEntity cochlear nerve A nerve in the head that carries signals from the cochlea of the inner ear to the brain. It is part of the vestibulocochlear nerve, the 8th cranial nerve which is found in higher vertebrates; the other portion of the 8th cranial nerve is the vestibular nerve which carries spatial orientation information from the semicircular canals. The cochlear nerve is a sensory nerve, one which conducts to the brain information about the environment, in this case acoustic energy impinging on the tympanic membrane. The cochlear nerve arises from within the cochlea and extends to the brainstem, where its fibers make contact with the cochlear nucleus, the next stage of neural processing in the auditory system[WP]. MESH:D003056|FMA:53431|EMAPA:17802|GAID:723|EHDAA2:0002195|OpenCyc:Mx4rwIhQfZwpEbGdrcN5Y29ycA|MBA:948|BAMS:cVIIIn|BM:VIIIN|BTO:0003490|VHOG:0001182|NCIT:C12697|MA:0001110|UMLS:C0009201 hp.json auditory nerve|nervus vestibulocochlearis|vestibulocochlear VIII nerve cochlear component|vestibulocochlear nerve cochlear component|cochlear component|cochlear root of acoustic nerve|cochlear root of eighth cranial nerve http://purl.obolibrary.org/obo/UBERON_0004727 uberon_slim|pheno_slim GO:0010976 biolink:BiologicalProcess positive regulation of neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). hp.json positive regulation of neurite biosynthesis|positive regulation of neurite formation|positive regulation of neurite growth|positive regulation of neurite development http://purl.obolibrary.org/obo/GO_0010976 GO:0010977 biolink:BiologicalProcess negative regulation of neuron projection development Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). hp.json negative regulation of neurite biosynthesis|negative regulation of neurite development|negative regulation of neurite growth|growth cone collapse|negative regulation of neurite formation http://purl.obolibrary.org/obo/GO_0010977 GO:0010975 biolink:BiologicalProcess regulation of neuron projection development Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). hp.json regulation of neurite growth|regulation of neurite formation|regulation of neurite development|regulation of neurite biosynthesis http://purl.obolibrary.org/obo/GO_0010975 GO:0007320 biolink:BiologicalProcess insemination The introduction of semen or sperm into the genital tract of a female. Wikipedia:Insemination hp.json http://purl.obolibrary.org/obo/GO_0007320 CHEBI:35586 biolink:ChemicalSubstance 1H-purine The 1H-tautomer of purine. Gmelin:2379911 hp.json 1H-purine http://purl.obolibrary.org/obo/CHEBI_35586 3_STAR CHEBI:11596 biolink:ChemicalSubstance 2-hydroxyglutarate(2-) A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxylic acid groups of 2-hydroxyglutaric acid. Reaxys:5736650|Beilstein:5736650|MetaCyc:2-HYDROXYGLUTARIC_ACID hp.json 2-hydroxypentanedioate|2-hydroxyglutarate http://purl.obolibrary.org/obo/CHEBI_11596 3_STAR CHEBI:35588 biolink:ChemicalSubstance 3H-purine The 3H-tautomer of purine. Reaxys:1210196|PMID:6149478|PMID:7178185|PMID:7296170 hp.json 3H-purine http://purl.obolibrary.org/obo/CHEBI_35588 3_STAR CHEBI:35589 biolink:ChemicalSubstance 9H-purine The 9H-tautomer of purine. CAS:120-73-0|Wikipedia:Purine|Gmelin:3120|Beilstein:606899 hp.json 9H-purine|9H-purine http://purl.obolibrary.org/obo/CHEBI_35589 3_STAR GO:0010970 biolink:BiologicalProcess transport along microtubule The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. hp.json microtubule-based transport|establishment of localization by movement along microtubule|movement along microtubule http://purl.obolibrary.org/obo/GO_0010970 UBERON:0004734 biolink:AnatomicalEntity gastrula Organism at the gastrula stage. FBbt:00005317|UMLS:C0017199|FMA:293108|BILA:0000060|UMLS:C1284022|GAID:1302|BTO:0001403|NCIT:C34058|NCIT:C34057|Wikipedia:Trilaminar_blastocyst|MESH:D005775|Wikipedia:Gastrula|MIAA:0000179 hp.json blastocystis trilaminaris|trilaminar blastoderm|gastrula embryo|trilaminar disc|tri-laminar disk|trilaminar blastoderm|trilaminar blastocyst|trilaminar disk|tri-laminar disc|trilaminar blastocyst|trilaminar germ|blastocystis trilaminaris|trilaminar disk|tri-laminar disc|trilaminar disc|trilaminar germ|tri-laminar disk http://purl.obolibrary.org/obo/UBERON_0004734 pheno_slim GO:0009987 biolink:BiologicalProcess cellular process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. hp.json single-organism cellular process|cell physiology|cellular physiological process|cell growth and/or maintenance http://purl.obolibrary.org/obo/GO_0009987 gocheck_do_not_annotate|goslim_plant GO:0071953 biolink:CellularComponent elastic fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. hp.json elastic fibre|elastin fiber http://purl.obolibrary.org/obo/GO_0071953 UBERON:0004732 biolink:AnatomicalEntity segmental subdivision of nervous system Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. hp.json neuromere http://purl.obolibrary.org/obo/UBERON_0004732 non_informative UBERON:0004733 biolink:AnatomicalEntity segmental subdivision of hindbrain An organ subunit that is part of a hindbrain [Automatically generated definition]. FMA:61998 hp.json segment of hindbrain|hindbrain segment http://purl.obolibrary.org/obo/UBERON_0004733 non_informative UBERON:0004731 biolink:AnatomicalEntity neuromere A transverse unitary subdivision of the neural tube that shares a common dorsoventral structure (floor, basal, alar, and roof plates), but each having differential molecular identities and fates; they comprise the secondary prosencephalon, diencephalon (prosomeres), the midbrain (mesomeres), and the hindbrain (rhombomeres). TAO:0001328|ZFA:0001328|Wikipedia:Neuromere|NLX:147842 hp.json neural segment|neuromeres|neural tube metameric segment|neural tube metameric segment|neural metamere|neural tube segment|neuromere http://purl.obolibrary.org/obo/UBERON_0004731 pheno_slim CHEBI:35584 biolink:ChemicalSubstance purine A heterobicyclic aromatic organic compound comprising a pyrimidine ring fused to an imidazole ring; the parent compound of the purines. PMID:12865945|KEGG:C15587|HMDB:HMDB0001366|PMID:24088627|MetaCyc:PURINE hp.json purine http://purl.obolibrary.org/obo/CHEBI_35584 3_STAR HP:0041048 biolink:PhenotypicFeature Decreased expression of GPI-anchored proteins on the cell surface A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis. hp.json http://purl.obolibrary.org/obo/HP_0041048 HP:0041049 biolink:PhenotypicFeature Starch intolerance An inability to digest starch. hp.json Amylose-amylopectin intolerance|Starch intolerance http://purl.obolibrary.org/obo/HP_0041049 UBERON:0004716 biolink:AnatomicalEntity conceptus The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. UMLS:C1516779|NCIT:C34131|Wikipedia:Conceptus|AEO:0000194|BTO:0003834|EMAPA:36040|EHDAA2:0000001|EHDAA2:0003235 hp.json embryo plus adnexa http://purl.obolibrary.org/obo/UBERON_0004716 UBERON:0004714 biolink:AnatomicalEntity septum pellucidum A triangular double membrane, consisting of glial cells and fibers (Heimer, 1996) separating the anterior horns of the lateral ventricles of the brain. It is situated in the median plane and bounded by the corpus callosum and the body and columns of the fornix. BIRNLEX:1315|MA:0002979|BAMS:spt|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=256|NCIT:C33536|BAMS:SptP|FMA:61844|MESH:D012688|UMLS:C0036700|UMLS:C0036700|BTO:0003448|DHBA:12098 hp.json septum pellucidum of telencephalic ventricle|septal pellucidum|septum lucidum|septum gliosum|pellucidum|supracommissural septum|lateral septum http://purl.obolibrary.org/obo/UBERON_0004714 pheno_slim UBERON:0004715 biolink:AnatomicalEntity annulus fibrosus disci intervertebralis The ring of fibrocartilage and fibrous tissue forming the circumference of the intervertebral disc; surrounds the nucleus pulposus, which is prone to herniation when the annulus fibrosus is compromised. EMAPA:32670|FMA:13551|BTO:0003629|MA:0000111 hp.json anulus fibrosus (diskus intervertebralis)|fibrous ring of intervertebral disc|anulus fibrosus of intervertebral disk|annulus fibrosus|annulus fibrosus of intervertebral disc http://purl.obolibrary.org/obo/UBERON_0004715 GO:0010941 biolink:BiologicalProcess regulation of cell death Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. hp.json http://purl.obolibrary.org/obo/GO_0010941 GO:0010942 biolink:BiologicalProcess positive regulation of cell death Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. hp.json http://purl.obolibrary.org/obo/GO_0010942 GO:0010948 biolink:BiologicalProcess negative regulation of cell cycle process Any process that decreases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. hp.json http://purl.obolibrary.org/obo/GO_0010948 CHEBI:35552 biolink:ChemicalSubstance heterocyclic organic fundamental parent hp.json heterocyclic parent hydrides|heterocyclic fundamental parent|heterocyclic organic fundamental parents|organic heterocyclic fundamental parents http://purl.obolibrary.org/obo/CHEBI_35552 3_STAR CHEBI:35554 biolink:ChemicalSubstance cardiovascular drug A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume. hp.json cardiovascular agent|cardiovascular drugs http://purl.obolibrary.org/obo/CHEBI_35554 3_STAR GO:0009952 biolink:BiologicalProcess anterior/posterior pattern specification The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. hp.json anterior/posterior pattern formation http://purl.obolibrary.org/obo/GO_0009952 UBERON:0004723 biolink:AnatomicalEntity interlobular artery The branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli[MP]. The first set of renal bloodvessels, the interlobular arteries (or cortical radiate arteries, or cortical radial arteries), are given off at right angles from the side of the arcuate arteries looking toward the cortical substance, and pass directly outward between the medullary rays to reach the fibrous tunic, where they end in the capillary network of this part. These vessels do not anastomose with each other, but form what are called end-arteries. In their outward course they give off lateral branches; these are the afferent vessels for the renal corpuscles; they enter the capsule, and end in the glomerulus. From each tuft the corresponding efferent vessel arises, and, having made its egress from the capsule near to the point where the afferent vessel enters, breaks up into a number of branches, which form a dense plexus within Bowman's capsule. UMLS:C1512856|EMAPA:28212|FMA:70498|MA:0002584|NCIT:C32826 hp.json interlobular renal artery|arteriae corticales radiatae|kidney interlobular artery|arteriae interlobulares renis|renal interlobular artery|cortical radial arteries|interlobular http://purl.obolibrary.org/obo/UBERON_0004723 pheno_slim|human_reference_atlas HP:0041042 biolink:PhenotypicFeature Absent neutrophil lactoferrin The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production. hp.json http://purl.obolibrary.org/obo/HP_0041042 HP:0041043 biolink:PhenotypicFeature Neutrophil nuclear clefts An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation. hp.json http://purl.obolibrary.org/obo/HP_0041043 UBERON:0004724 biolink:AnatomicalEntity medial palpebral ligament The medial palpebral ligament (tendo oculi), about 4 mm. in length and 2 mm. in breadth, is attached to the frontal process of the maxilla in front of the lacrimal groove. Crossing the lacrimal sac, it divides into two parts, upper and lower, each attached to the medial end of the corresponding tarsus. As the ligament crosses the lacrimal sac, a strong aponeurotic is given off from its posterior surface; this expands over the sac, and is attached to the posterior lacrimal crest. NCIT:C52724|UMLS:C0229251|EMAPA:37608|MA:0001258 hp.json l. palpebrale mediale http://purl.obolibrary.org/obo/UBERON_0004724 HP:0041046 biolink:PhenotypicFeature Increased neutrophil ribosomes An increased number of ribosomes detected in neutrophils. hp.json http://purl.obolibrary.org/obo/HP_0041046 UBERON:0004720 biolink:AnatomicalEntity cerebellar vermis A subregion of the cerebellar cortex, consisting of the most medial zone of the cerebellar cortex, stradding the midline. May be continuous with the lateral cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissures in others (e.g., ventrally). FMA:76928|CALOHA:TS-2059|BAMS:VERM|NCIT:C33866|BAMS:Ver|MA:0000202|BIRNLEX:1175|UMLS:C0228482|MBA:645|EV:0100298|UMLS:C0228482|HBA:4698|BIRNLEX:1106|DMBA:16814|DHBA:10658|EMAPA:35214|MESH:D065814 hp.json vermal parts of the cerebellum|vermis of cerebellum [I-X]|vermal regions|vermis cerebelli [I-X]|vermis of cerebellum|vermis cerebelli|cerebellum vermis|vermis http://purl.obolibrary.org/obo/UBERON_0004720 pheno_slim|human_reference_atlas HP:0041047 biolink:PhenotypicFeature Bladder outlet obstruction A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS). hp.json Obstruction of bladder outlet http://purl.obolibrary.org/obo/HP_0041047 HP:0041044 biolink:PhenotypicFeature Low neutrophil alkaline phosphatase An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme. hp.json http://purl.obolibrary.org/obo/HP_0041044 HP:0041045 biolink:PhenotypicFeature Increased neutrophil mitochondria An increased number of mitochondria detected in neutrophils. hp.json http://purl.obolibrary.org/obo/HP_0041045 UBERON:0004709 biolink:AnatomicalEntity pelvic appendage Paired appendage that consists of the posterior appendicular skeleton and associated soft and hard tissues, but excludes the pelvic girdle and its associated soft and hard tissues. VSAO:0000126 hp.json posterior paired appendage|pelvic appendage|posterior appendage|pelvic limb/fin|hindlimb/pelvic fin|posterior limb/fin|pelvic limb/fin|hindlimb/pelvic fin http://purl.obolibrary.org/obo/UBERON_0004709 homology_grouping UBERON:0004707 biolink:AnatomicalEntity pharyngula stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. DrerDO:0000052|ZFS:0000050|EFO:0001310|OGES:000006 hp.json phylotypic stage|pharyngula http://purl.obolibrary.org/obo/UBERON_0004707 efo_slim HP:0041059 biolink:PhenotypicFeature Chronic (near) absent circulating IgG4 A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured. hp.json Chronic (near) absent IgG4 in blood http://purl.obolibrary.org/obo/HP_0041059 GO:0007308 biolink:BiologicalProcess oocyte construction The synthesis, deposition, and organization of the materials in a cell of an ovary; where the cell can then undergo meiosis and form an ovum. An example of this is found in Drosophila melanogaster. hp.json oocyte arrangement http://purl.obolibrary.org/obo/GO_0007308 UBERON:0004708 biolink:AnatomicalEntity paired limb/fin An appendage that is part of an appendage girdle complex. VSAO:0000067 hp.json jointed paired lateral appendage|pectoral or pelvic appendage|pelvic/pectoral appendage|limb/fin|limb or fin|jointed paired lateral appendage|girdle-associated appendage|paired appendage|pelvic/pectoral appendage|pectoral or pelvic appendage|limb/fin|limb or fin|girdle-associated appendage http://purl.obolibrary.org/obo/UBERON_0004708 homology_grouping UBERON:0004706 biolink:AnatomicalEntity bulbus cordis A transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches. EHDAA2:0000197|EHDAA:438|UMLS:C1284055|EHDAA:768|EMAPA:16333|SCTID:361525002|Wikipedia:Bulbus_cordis|NCIT:C34114|FMA:70300 hp.json primitive right ventricle endocardium http://purl.obolibrary.org/obo/UBERON_0004706 pheno_slim|vertebrate_core UBERON:0004703 biolink:AnatomicalEntity dorsal thalamus EHDAA2:0000692|DHBA:10391|MA:0000180|BAMS:DOR|PBA:128013018|BM:Die-Th|ZFA:0000653|ncithesaurus:Dorsal_Thalamus|HBA:4393|EMAPA:35295|BAMS:Dorsal_thalamus|TAO:0000653|FMA:62007|DMBA:16396 hp.json dorsal thalamus|thalamus proper|thalamus, pars dorsalis|dorsal tier of thalamus|dorsal thalamus (Anthoney)|thalamus dorsalis http://purl.obolibrary.org/obo/UBERON_0004703 pheno_slim|vertebrate_core UBERON:0004704 biolink:AnatomicalEntity bone fossa A depression or hollow in a bone[WP]. UMLS:C0836913|AAO:0010439|VSAO:0005069|FMA:45791|TAO:0001743|ZFA:0005388 hp.json concavity|depression|depressions|fossae|concavities|fossa|groove http://purl.obolibrary.org/obo/UBERON_0004704 vertebrate_core GO:0010959 biolink:BiologicalProcess regulation of metal ion transport Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0010959 CHEBI:35568 biolink:ChemicalSubstance mancude ring Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds. hp.json mancude-ring systems|mancude rings|mancunide-ring systems http://purl.obolibrary.org/obo/CHEBI_35568 3_STAR HP:0041050 biolink:PhenotypicFeature Renal tubular cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. hp.json Renal tubule cyst http://purl.obolibrary.org/obo/HP_0041050 HP:0041053 biolink:PhenotypicFeature obsolete Fractured head hp.json http://purl.obolibrary.org/obo/HP_0041053 UBERON:0004713 biolink:AnatomicalEntity corpus cavernosum penis One of the columns of erectile tissue forming the dorsum and sides of the penis. FMA:19618|NCIT:C32382|EMAPA:29856|MA:0001743|UMLS:C1709494|EMAPA:29850|UMLS:C0227937|BTO:0002019|NCIT:C49269 hp.json penis erectile tissue|corpus cavernosum penis|cavernous body of penis|corpus cavernosum|corpus spongiosum penis|corpus cavernosum of penis|penile corpus cavernosum|spongy body of penis|spongy body of male urethra http://purl.obolibrary.org/obo/UBERON_0004713 GO:0009966 biolink:BiologicalProcess regulation of signal transduction Any process that modulates the frequency, rate or extent of signal transduction. hp.json regulation of signaling pathway|regulation of signalling pathway http://purl.obolibrary.org/obo/GO_0009966 HP:0041054 biolink:PhenotypicFeature obsolete Fractured thoracic segment of trunk hp.json http://purl.obolibrary.org/obo/HP_0041054 GO:0009967 biolink:BiologicalProcess positive regulation of signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction. hp.json up-regulation of signal transduction|up regulation of signal transduction|activation of signal transduction|positive regulation of signalling pathway|stimulation of signal transduction|upregulation of signal transduction|positive regulation of signaling pathway http://purl.obolibrary.org/obo/GO_0009967 UBERON:0004710 biolink:AnatomicalEntity pectoral appendage Paired appendage that consists of the anterior appendicular skeleton and associated soft and hard tissues, but excludes the pectoral girdle and its associated soft and hard tissues. VHOG:0001753|VSAO:0000125 hp.json pectoral limb/fin|forelimb or pectoral fin|anterior appendage|anterior paired appendage|forelimb - pectoral fin|anterior limb/fin|forelimb/pectoral fin http://purl.obolibrary.org/obo/UBERON_0004710 homology_grouping HP:0041051 biolink:PhenotypicFeature Ageusia A rare condition that is characterized by a complete loss of taste function of the tongue. hp.json Absent sense of taste|Impaired taste sensation|Lost taste http://purl.obolibrary.org/obo/HP_0041051 UBERON:0004711 biolink:AnatomicalEntity jugular vein The jugular veins are veins that bring deoxygenated blood from the head back to the heart via the superior vena cava. EMAPA:18638|GAID:536|Wikipedia:Jugular_vein|NCIT:C12738|CALOHA:TS-0497|SCTID:244403000|UMLS:C0022427|BTO:0001744|MA:0002154|MESH:D007601 hp.json vena jugularis|jugular http://purl.obolibrary.org/obo/UBERON_0004711 GO:0009968 biolink:BiologicalProcess negative regulation of signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. hp.json inhibition of signal transduction|negative regulation of signaling pathway|downregulation of signal transduction|negative regulation of signalling pathway|down-regulation of signal transduction|down regulation of signal transduction http://purl.obolibrary.org/obo/GO_0009968 HP:0041052 biolink:PhenotypicFeature Agenesis of putamen A developmental defect characterized by the absence of the putamen owing to its failure to develop. hp.json http://purl.obolibrary.org/obo/HP_0041052 HP:0041057 biolink:PhenotypicFeature Transient decreased circulating IgG4 A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation. hp.json Transient decreased IgG4 in blood http://purl.obolibrary.org/obo/HP_0041057 GO:0071971 biolink:BiologicalProcess extracellular exosome assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. hp.json extracellular vesicular exosome assembly http://purl.obolibrary.org/obo/GO_0071971 HP:0041058 biolink:PhenotypicFeature Chronic decreased circulating IgG4 A lasting decrease of immunoglobulin G4 (IgG4) in the blood. hp.json Chronic decreased IgG4 in blood http://purl.obolibrary.org/obo/HP_0041058 HP:0041055 biolink:PhenotypicFeature Fractured humerus A partial or complete breakage of the humerus. hp.json Humeral fracture|Humerus fracture|Fracture of the humerus|Broken humerus|bone humerus http://purl.obolibrary.org/obo/HP_0041055 HP:0041056 biolink:PhenotypicFeature Hot cross bun sign A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI). hp.json http://purl.obolibrary.org/obo/HP_0041056 HP:0031661 biolink:PhenotypicFeature Abnormal second heart sound Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration. hp.json http://purl.obolibrary.org/obo/HP_0031661 HP:0031662 biolink:PhenotypicFeature Fixed splitting of the second heart sound Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. hp.json Fixed splitting of S2 http://purl.obolibrary.org/obo/HP_0031662 HP:0031663 biolink:PhenotypicFeature Paradoxical splitting of the second heart sound Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern). hp.json Paradoxical splitting of S2|Reversed splitting of S2|Reversed splitting of the second heart sound http://purl.obolibrary.org/obo/HP_0031663 HP:0031664 biolink:PhenotypicFeature Systolic heart murmur A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. hp.json http://purl.obolibrary.org/obo/HP_0031664 HP:0031660 biolink:PhenotypicFeature Loud first heart sound Abnormally increased volume of the first heart sound. hp.json http://purl.obolibrary.org/obo/HP_0031660 NBO:0002519 biolink:NamedThing adipsia "A pathological drinking behavior characterised by a lack of desire to drink." [NBO:GVG] hp.json http://purl.obolibrary.org/obo/NBO_0002519 HP:0004039 biolink:PhenotypicFeature Abnormal ulnar metaphysis morphology Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis. UMLS:C4025424 hp.json Abnormality of ulnar metaphysis http://purl.obolibrary.org/obo/HP_0004039 HP:0031669 biolink:PhenotypicFeature Middiastolic murmur A murmur that occurs in the middle of the diastolic phase. hp.json http://purl.obolibrary.org/obo/HP_0031669 HP:0004038 biolink:PhenotypicFeature obsolete Bony spicule of ulnar epiphyseal plate hp.json http://purl.obolibrary.org/obo/HP_0004038 HP:0004037 biolink:PhenotypicFeature Abnormal ulnar epiphysis morphology UMLS:C4021689 hp.json Abnormality of the ulnar epiphyses|Abnormality of the epiphyseal plate of the ulna http://purl.obolibrary.org/obo/HP_0004037 HP:0004036 biolink:PhenotypicFeature Long styloid process of ulna UMLS:C4025426 hp.json http://purl.obolibrary.org/obo/HP_0004036 HP:0006698 biolink:PhenotypicFeature Dilatation of the ventricular cavity A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. UMLS:C0392464|SNOMEDCT_US:90539001 hp.json Ventricular aneurysm http://purl.obolibrary.org/obo/HP_0006698 HP:0031665 biolink:PhenotypicFeature Midsystolic murmur A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern. hp.json http://purl.obolibrary.org/obo/HP_0031665 HP:0006699 biolink:PhenotypicFeature Premature atrial contractions A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. UMLS:C0033036|SNOMEDCT_US:63593006|SNOMEDCT_US:406461004|MSH:D018880|SNOMEDCT_US:287057009|SNOMEDCT_US:284470004 hp.json Atrial premature complex|Ectopic supraventricular rhythms|PACs|Premature supraventricular beats|Atrial ectopic beats http://purl.obolibrary.org/obo/HP_0006699 HP:0031666 biolink:PhenotypicFeature Late systolic murmur A murmur that occurs in the latter phase of systole. hp.json http://purl.obolibrary.org/obo/HP_0031666 HP:0031667 biolink:PhenotypicFeature Holosystolic murmur A heart murmur that occurs during the entire systolic phase from S1 to S2. hp.json http://purl.obolibrary.org/obo/HP_0031667 HP:0031668 biolink:PhenotypicFeature Diastolic heart murmur A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1. hp.json http://purl.obolibrary.org/obo/HP_0031668 HP:0006694 biolink:PhenotypicFeature Early progressive calcific cardiac valvular disease UMLS:C4024999 hp.json http://purl.obolibrary.org/obo/HP_0006694 HP:0004031 biolink:PhenotypicFeature Broad radial diaphysis Increase in width of the diaphysis of radius. UMLS:C4021690 hp.json Wide radial diaphysis http://purl.obolibrary.org/obo/HP_0004031 HP:0006695 biolink:PhenotypicFeature Atrioventricular canal defect A defect of the atrioventricular septum of the heart. UMLS:C0014116|UMLS:C1389016|MSH:D004694|Fyler:606|SNOMEDCT_US:15459006|Fyler:1100|Fyler:0606|MSH:C562831 hp.json Hole in center of heart|Hole in centre of heart|Atrioventricular septal defect|Endocardial cushion defect http://purl.obolibrary.org/obo/HP_0006695 HP:0004030 biolink:PhenotypicFeature Patchy sclerosis of radial diaphysis UMLS:C4025431 hp.json http://purl.obolibrary.org/obo/HP_0004030 HP:0006696 biolink:PhenotypicFeature Polymorphic and polytopic ventricular extrasystoles UMLS:C4024998 hp.json http://purl.obolibrary.org/obo/HP_0006696 HP:0006690 biolink:PhenotypicFeature Myocardial calcification Calcium deposition in the myocardium. UMLS:C1096561|Fyler:1889 hp.json Calcified myocardium http://purl.obolibrary.org/obo/HP_0006690 HP:0004035 biolink:PhenotypicFeature Abnormal ulnar styloid process morphology UMLS:C4025427 hp.json Abnormality of the styloid process of ulna http://purl.obolibrary.org/obo/HP_0004035 HP:0006691 biolink:PhenotypicFeature Pulmonic valve myxoma UMLS:C4025002 hp.json http://purl.obolibrary.org/obo/HP_0006691 HP:0004034 biolink:PhenotypicFeature Irregular olecranon UMLS:C4025428 hp.json http://purl.obolibrary.org/obo/HP_0004034 HP:0006692 biolink:PhenotypicFeature Short chordae tendineae of the tricuspid valve Abnormally short chordae tendineae of the tricuspid valve. UMLS:C4025001 hp.json http://purl.obolibrary.org/obo/HP_0006692 HP:0004033 biolink:PhenotypicFeature Curved olecranon UMLS:C4025429 hp.json http://purl.obolibrary.org/obo/HP_0004033 HP:0004032 biolink:PhenotypicFeature Abnormal olecranon morphology Any structural abnormality of the olecranon, a bony eminence of the proximal ulna. UMLS:C4025430 hp.json Abnormality of the olecranon http://purl.obolibrary.org/obo/HP_0004032 HP:0006693 biolink:PhenotypicFeature Myocardial steatosis Steatosis in the myocardium. UMLS:C4025000 hp.json http://purl.obolibrary.org/obo/HP_0006693 HP:0031672 biolink:PhenotypicFeature Reverse typical atrial flutter A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1. hp.json http://purl.obolibrary.org/obo/HP_0031672 HP:0031673 biolink:PhenotypicFeature Orthodromic atrioventricular reentrant tachycardia A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction. hp.json Orthodromic AVRT http://purl.obolibrary.org/obo/HP_0031673 HP:0031674 biolink:PhenotypicFeature Antidromic atrioventricular reentrant tachycardia A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction. hp.json Antidromic AVRT http://purl.obolibrary.org/obo/HP_0031674 HP:0031675 biolink:PhenotypicFeature Fascicular left ventricular tachycardia A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG). hp.json http://purl.obolibrary.org/obo/HP_0031675 HP:0031670 biolink:PhenotypicFeature Continuous heart murmur A murmur that occurs in both systole and diastole. hp.json http://purl.obolibrary.org/obo/HP_0031670 HP:0031671 biolink:PhenotypicFeature Typical atrial flutter Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. hp.json http://purl.obolibrary.org/obo/HP_0031671 UBERON:5006052 biolink:AnatomicalEntity digit 5 plus metapodial segment A subdivision of the autopod consisting of digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json digit 5 ( phalanges plus metapodial) plus soft tissue|digit 5 digitopodial subdivision|digit 5 ray|digit V plus metapodial segment|digit 5 http://purl.obolibrary.org/obo/UBERON_5006052 HP:0004049 biolink:PhenotypicFeature Decreased carpal angles of wrist UMLS:C4025416 hp.json http://purl.obolibrary.org/obo/HP_0004049 UBERON:5006050 biolink:AnatomicalEntity digit 3 plus metapodial segment A subdivision of the autopod consisting of digit 3 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json digit 3 digitopodial subdivision|digit 3 ( phalanges plus metapodial) plus soft tissue|digit III plus metapodial segment|digit 3 ray|digit 3 http://purl.obolibrary.org/obo/UBERON_5006050 HP:0004048 biolink:PhenotypicFeature Narrow joint spaces of wrist UMLS:C4025417 hp.json http://purl.obolibrary.org/obo/HP_0004048 UBERON:5006051 biolink:AnatomicalEntity digit 4 plus metapodial segment A subdivision of the autopod consisting of digit 4 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json digit 4 ( phalanges plus metapodial) plus soft tissue|digit 4 digitopodial subdivision|digit 4 ray|digit 4|digit IV plus metapodial segment http://purl.obolibrary.org/obo/UBERON_5006051 HP:0004047 biolink:PhenotypicFeature Wide ulnar metaphysis Increase in width (breadth) of the ulnar metaphysis. UMLS:C4021687 hp.json Broad ulnar metaphysis http://purl.obolibrary.org/obo/HP_0004047 HP:0031676 biolink:PhenotypicFeature Monomorphic ventricular tachycardia A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so). hp.json http://purl.obolibrary.org/obo/HP_0031676 HP:0031677 biolink:PhenotypicFeature Polymorphic ventricular tachycardia A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat). hp.json http://purl.obolibrary.org/obo/HP_0031677 HP:0031678 biolink:PhenotypicFeature Atherosclerotic lesion A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus. hp.json http://purl.obolibrary.org/obo/HP_0031678 HP:0031679 biolink:PhenotypicFeature Type I atherosclerotic lesion Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells). hp.json http://purl.obolibrary.org/obo/HP_0031679 HP:0004042 biolink:PhenotypicFeature Ulnar metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis of the ulna. UMLS:C4021688 hp.json Irregular ulnar metaphysis http://purl.obolibrary.org/obo/HP_0004042 HP:0004041 biolink:PhenotypicFeature Cupped ulnar metaphysis UMLS:C4025422 hp.json http://purl.obolibrary.org/obo/HP_0004041 GO:0032388 biolink:BiologicalProcess positive regulation of intracellular transport Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. hp.json up regulation of intracellular transport|activation of intracellular transport|stimulation of intracellular transport|upregulation of intracellular transport|up-regulation of intracellular transport http://purl.obolibrary.org/obo/GO_0032388 HP:0004040 biolink:PhenotypicFeature Corner fragments of ulnar metaphysis UMLS:C4025423 hp.json http://purl.obolibrary.org/obo/HP_0004040 GO:0032387 biolink:BiologicalProcess negative regulation of intracellular transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells. hp.json down-regulation of intracellular transport|down regulation of intracellular transport|downregulation of intracellular transport|inhibition of intracellular transport http://purl.obolibrary.org/obo/GO_0032387 GO:0032386 biolink:BiologicalProcess regulation of intracellular transport Any process that modulates the frequency, rate or extent of the directed movement of substances within cells. hp.json http://purl.obolibrary.org/obo/GO_0032386 HP:0004046 biolink:PhenotypicFeature Spurred ulnar metaphysis UMLS:C4025418 hp.json http://purl.obolibrary.org/obo/HP_0004046 HP:0004045 biolink:PhenotypicFeature Sloping ulnar metaphysis A sloped configuration of the metaphysis (shaft) of the ulna. UMLS:C4025419 hp.json http://purl.obolibrary.org/obo/HP_0004045 HP:0004044 biolink:PhenotypicFeature Pointed ulnar metaphysis UMLS:C4025420 hp.json http://purl.obolibrary.org/obo/HP_0004044 HP:0004043 biolink:PhenotypicFeature Lytic defects of ulnar metaphysis UMLS:C4025421 hp.json http://purl.obolibrary.org/obo/HP_0004043 HP:0031683 biolink:PhenotypicFeature Type VI atherosclerotic lesion Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes. hp.json http://purl.obolibrary.org/obo/HP_0031683 HP:0031684 biolink:PhenotypicFeature Renal artery atherosclerosis An atherosclerotic lesion located in the renal artery. hp.json http://purl.obolibrary.org/obo/HP_0031684 HP:0031685 biolink:PhenotypicFeature Abnormal stool composition Abnormal level of metabolite or other abnormal analyte result in a stool test. hp.json Abnormal feces composition|Abnormal fecal test result|Abnormal faeces composition http://purl.obolibrary.org/obo/HP_0031685 HP:0031686 biolink:PhenotypicFeature Increased stool alpha1-antitrypsin concentration An abnormally elevated amount of alpha1-antitrypsin in the feces. hp.json http://purl.obolibrary.org/obo/HP_0031686 HP:0031680 biolink:PhenotypicFeature Type II atherosclerotic lesion Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid. hp.json http://purl.obolibrary.org/obo/HP_0031680 HP:0031681 biolink:PhenotypicFeature Type III atherosclerotic lesion Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions. hp.json http://purl.obolibrary.org/obo/HP_0031681 HP:0031682 biolink:PhenotypicFeature Type V atherosclerotic lesion Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant. hp.json http://purl.obolibrary.org/obo/HP_0031682 GO:0046907 biolink:BiologicalProcess intracellular transport The directed movement of substances within a cell. hp.json single organism intracellular transport|single-organism intracellular transport http://purl.obolibrary.org/obo/GO_0046907 HP:0004017 biolink:PhenotypicFeature Exostoses of the radial metaphysis UMLS:C4025442 hp.json http://purl.obolibrary.org/obo/HP_0004017 HP:0004016 biolink:PhenotypicFeature Cupped radial metaphyses UMLS:C4025443 hp.json http://purl.obolibrary.org/obo/HP_0004016 GO:0032370 biolink:BiologicalProcess positive regulation of lipid transport Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json up-regulation of lipid transport|up regulation of lipid transport|activation of lipid transport|stimulation of lipid transport|upregulation of lipid transport http://purl.obolibrary.org/obo/GO_0032370 HP:0004015 biolink:PhenotypicFeature Abnormal radial metaphysis morphology UMLS:C4025444 hp.json Abnormality of radial metaphyses http://purl.obolibrary.org/obo/HP_0004015 HP:0004014 biolink:PhenotypicFeature Broad radial epiphyseal plate Abnormal increase in width of the epiphyseal growth plate of the radius. UMLS:C4021693 hp.json Wide radial epiphyseal plates http://purl.obolibrary.org/obo/HP_0004014 GO:0046903 biolink:BiologicalProcess secretion The controlled release of a substance by a cell or a tissue. hp.json http://purl.obolibrary.org/obo/GO_0046903 goslim_pir HP:0031687 biolink:PhenotypicFeature Abnormally loud pulmonic component of the second heart sound hp.json Accentuation of the pulmonic component of the second heart sound http://purl.obolibrary.org/obo/HP_0031687 HP:0006677 biolink:PhenotypicFeature Prolonged QRS complex Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. SNOMEDCT_US:991002|UMLS:C0235475 hp.json Intraventricular conduction delay|Prolonged QRS complex on EKG|QRS widening http://purl.obolibrary.org/obo/HP_0006677 HP:0031688 biolink:PhenotypicFeature Erythroid dysplasia Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. hp.json http://purl.obolibrary.org/obo/HP_0031688 HP:0004019 biolink:PhenotypicFeature Radial metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis of the radius. UMLS:C4021692 hp.json Irregular radial metaphysis http://purl.obolibrary.org/obo/HP_0004019 HP:0031689 biolink:PhenotypicFeature Megakaryocyte dysplasia The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. hp.json Dysmegakaryopoiesis http://purl.obolibrary.org/obo/HP_0031689 CHEBI:60525 biolink:ChemicalSubstance molybdenum cofactor(2-) Molybdenum cofactor MoCo protonated to pH 7.3. PMID:20356030|PDB:3HBG|PDB:3HBQ|PDBeChem:MSS|PDB:3HBP hp.json MoCo http://purl.obolibrary.org/obo/CHEBI_60525 3_STAR HP:0006679 biolink:PhenotypicFeature Granulomatous coronary arteritis Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. UMLS:C4025007 hp.json http://purl.obolibrary.org/obo/HP_0006679 HP:0004018 biolink:PhenotypicFeature Flared radial metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. UMLS:C4025441 hp.json Broadening of the distal radius http://purl.obolibrary.org/obo/HP_0004018 UBERON:5006049 biolink:AnatomicalEntity digit 2 plus metapodial segment A subdivision of the autopod consisting of digit 2 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json digit II plus metapodial segment|digit 2|digit 2 digitopodial subdivision|digit 2 ( phalanges plus metapodial) plus soft tissue|digit 2 ray http://purl.obolibrary.org/obo/UBERON_5006049 GO:0032379 biolink:BiologicalProcess positive regulation of intracellular lipid transport Any process that activates or increases the frequency, rate or extent of the directed movement of lipids within cells. hp.json up-regulation of intracellular lipid transport|up regulation of intracellular lipid transport|activation of intracellular lipid transport|stimulation of intracellular lipid transport|upregulation of intracellular lipid transport http://purl.obolibrary.org/obo/GO_0032379 GO:0032378 biolink:BiologicalProcess negative regulation of intracellular lipid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids within cells. hp.json inhibition of intracellular lipid transport|downregulation of intracellular lipid transport|down-regulation of intracellular lipid transport|down regulation of intracellular lipid transport http://purl.obolibrary.org/obo/GO_0032378 HP:0006673 biolink:PhenotypicFeature Reduced systolic function UMLS:C4025008 hp.json http://purl.obolibrary.org/obo/HP_0006673 GO:0032377 biolink:BiologicalProcess regulation of intracellular lipid transport Any process that modulates the frequency, rate or extent of the directed movement of lipids within cells. hp.json http://purl.obolibrary.org/obo/GO_0032377 UBERON:5006048 biolink:AnatomicalEntity digit 1 plus metapodial segment A subdivision of the autopod consisting of digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. hp.json digit 1 ray|digit 1|digit 1 digitopodial subdivision|digit I plus metapodial segment|digit 1 ( phalanges plus metapodial) plus soft tissue http://purl.obolibrary.org/obo/UBERON_5006048 HP:0004013 biolink:PhenotypicFeature Medially fused radial epiphyseal plates UMLS:C4025445 hp.json http://purl.obolibrary.org/obo/HP_0004013 HP:0004012 biolink:PhenotypicFeature Premature fusion of the radial epiphyseal plates A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone. UMLS:C4025446 hp.json http://purl.obolibrary.org/obo/HP_0004012 HP:0006670 biolink:PhenotypicFeature Impaired myocardial contractility UMLS:C4025009 hp.json http://purl.obolibrary.org/obo/HP_0006670 HP:0004010 biolink:PhenotypicFeature Small radial epiphyses UMLS:C4025447 hp.json http://purl.obolibrary.org/obo/HP_0004010 HP:0006671 biolink:PhenotypicFeature Paroxysmal atrial tachycardia UMLS:C0030587|SNOMEDCT_US:195069001 hp.json http://purl.obolibrary.org/obo/HP_0006671 GO:0032369 biolink:BiologicalProcess negative regulation of lipid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json down-regulation of lipid transport|down regulation of lipid transport|inhibition of lipid transport|downregulation of lipid transport http://purl.obolibrary.org/obo/GO_0032369 HP:0031694 biolink:PhenotypicFeature Severe adenovirus infection An unusually severe adenovirus infection. hp.json http://purl.obolibrary.org/obo/HP_0031694 HP:0031695 biolink:PhenotypicFeature Severe parainfluenza infection An unusually severe infection by a parainfluenza virus. hp.json http://purl.obolibrary.org/obo/HP_0031695 HP:0031696 biolink:PhenotypicFeature Disseminated viral infection A viral infection that fails to be contained by the immune sytem and spreads throughout the body. hp.json http://purl.obolibrary.org/obo/HP_0031696 HP:0031697 biolink:PhenotypicFeature Disseminated infection with live vaccine virus A dissemination viral infection caused by a live attenuated vaccine virus. hp.json http://purl.obolibrary.org/obo/HP_0031697 HP:0031690 biolink:PhenotypicFeature Opportunistic infection An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. hp.json http://purl.obolibrary.org/obo/HP_0031690 HP:0031691 biolink:PhenotypicFeature Severe viral infection An unusually severe viral infection. hp.json http://purl.obolibrary.org/obo/HP_0031691 HP:0031692 biolink:PhenotypicFeature Severe cytomegalovirus infection An unusually severe infection by cytomegalovirus. hp.json http://purl.obolibrary.org/obo/HP_0031692 HP:0031693 biolink:PhenotypicFeature Severe Epstein Barr virus infection An unusually severe Epstein Barr virus (EBV) infection. hp.json Severe EBV infection|Fulminant infectious mononucleosis http://purl.obolibrary.org/obo/HP_0031693 HP:0004028 biolink:PhenotypicFeature Spurs of radial diaphysis UMLS:C4025433 hp.json http://purl.obolibrary.org/obo/HP_0004028 HP:0004027 biolink:PhenotypicFeature Abnormality of radial diaphysis An anomaly of the radial diaphysis. UMLS:C4025434 hp.json http://purl.obolibrary.org/obo/HP_0004027 HP:0004026 biolink:PhenotypicFeature Broad radial metaphysis Increase in width (breadth) of the radial metaphysis. UMLS:C4021691 hp.json Wide radial metaphysis http://purl.obolibrary.org/obo/HP_0004026 GO:0046916 biolink:BiologicalProcess cellular transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. hp.json http://purl.obolibrary.org/obo/GO_0046916 HP:0004025 biolink:PhenotypicFeature Spurred radial metaphysis UMLS:C4025435 hp.json http://purl.obolibrary.org/obo/HP_0004025 HP:0006687 biolink:PhenotypicFeature Aortic tortuosity Abnormal tortuous (i.e., twisted) form of the aorta. UMLS:C4025003 hp.json http://purl.obolibrary.org/obo/HP_0006687 HP:0031698 biolink:PhenotypicFeature obsolete Disseminated Bacillus Calmette-Guerin infection Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. hp.json http://purl.obolibrary.org/obo/HP_0031698 GO:0046914 biolink:MolecularActivity transition metal ion binding Binding to a transition metal ions; a transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. hp.json http://purl.obolibrary.org/obo/GO_0046914 HP:0006688 biolink:PhenotypicFeature Paroxysmal tachycardia SNOMEDCT_US:12026006|UMLS:C0039236|MSH:D013614 hp.json http://purl.obolibrary.org/obo/HP_0006688 HP:0031699 biolink:PhenotypicFeature Disseminated cryptosporidium infection Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body. hp.json http://purl.obolibrary.org/obo/HP_0031699 HP:0006689 biolink:PhenotypicFeature Bacterial endocarditis A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. MSH:D004697|SNOMEDCT_US:301183007|UMLS:C0014121 hp.json Infective endocarditis http://purl.obolibrary.org/obo/HP_0006689 HP:0004029 biolink:PhenotypicFeature Lytic defects of radial diaphysis UMLS:C4025432 hp.json http://purl.obolibrary.org/obo/HP_0004029 HP:0006683 biolink:PhenotypicFeature Abnormal ventricular filling An abnormality of filling of a ventricle with blood during diastole. UMLS:C4025005 hp.json http://purl.obolibrary.org/obo/HP_0006683 GO:0032368 biolink:BiologicalProcess regulation of lipid transport Any process that modulates the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0032368 HP:0004020 biolink:PhenotypicFeature Irregular ossification of the radial metaphysis UMLS:C4025440 hp.json http://purl.obolibrary.org/obo/HP_0004020 HP:0006684 biolink:PhenotypicFeature Ventricular preexcitation with multiple accessory pathways A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. UMLS:C4025004 hp.json http://purl.obolibrary.org/obo/HP_0006684 HP:0006685 biolink:PhenotypicFeature Endocardial fibrosis The presence of excessive connective tissue in the endocardium. MSH:D004719|UMLS:C0553980|SNOMEDCT_US:398716006 hp.json Endomyocardial fibrosis http://purl.obolibrary.org/obo/HP_0006685 GO:0032365 biolink:BiologicalProcess intracellular lipid transport The directed movement of lipids within cells. hp.json http://purl.obolibrary.org/obo/GO_0032365 HP:0004024 biolink:PhenotypicFeature Medially sloping radial metaphysis UMLS:C4025436 hp.json http://purl.obolibrary.org/obo/HP_0004024 GO:0032364 biolink:BiologicalProcess oxygen homeostasis A homeostatic process involved in the maintenance of an internal steady state of oxygen within an organism or cell. hp.json http://purl.obolibrary.org/obo/GO_0032364 HP:0004023 biolink:PhenotypicFeature Sloping radial metaphysis UMLS:C4025437 hp.json http://purl.obolibrary.org/obo/HP_0004023 HP:0004022 biolink:PhenotypicFeature Sclerotic radial metaphysis with longitudinal striations UMLS:C4025438 hp.json http://purl.obolibrary.org/obo/HP_0004022 HP:0006681 biolink:PhenotypicFeature Absent atrioventricular node UMLS:C4025006 hp.json http://purl.obolibrary.org/obo/HP_0006681 HP:0006682 biolink:PhenotypicFeature Premature ventricular contraction Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. SNOMEDCT_US:17338001|UMLS:C0151636|MSH:D018879|SNOMEDCT_US:251175005 hp.json Skipped heartbeat|Ventricular premature beat|Premature ventricular beat|Missed heartbeat|Extra heart beat|Premature ventricular contractions|Ventricular extrasystoles|Ventricular ectopics http://purl.obolibrary.org/obo/HP_0006682 HP:0004021 biolink:PhenotypicFeature Lytic defects of radial metaphysis UMLS:C4025439 hp.json http://purl.obolibrary.org/obo/HP_0004021 PATO:0000969 biolink:NamedThing dwarf-like A size quality inhering in a bearer by virtue of the bearer's being abnormally small. hp.json dwarfed http://purl.obolibrary.org/obo/PATO_0000969 value_slim PATO:0000963 biolink:NamedThing opaque A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy. hp.json cloudy|clouding|non-transparent http://purl.obolibrary.org/obo/PATO_0000963 value_slim|mpath_slim GO:0007399 biolink:BiologicalProcess nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. hp.json pan-neural process http://purl.obolibrary.org/obo/GO_0007399 goslim_drosophila HP:0031620 biolink:PhenotypicFeature Anterior chamber flare grade 3+ Marked anterior chamber flare (iris and lens details hazy). hp.json http://purl.obolibrary.org/obo/HP_0031620 GO:0007398 biolink:BiologicalProcess ectoderm development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. hp.json http://purl.obolibrary.org/obo/GO_0007398 PATO:0000965 biolink:NamedThing symmetry A pattern quality of inhering in a bearer by virtue of the correspondence in size, shape, and relative position of the bearer's parts on opposite sides of a dividing line or median plane or about a center or axis. hp.json http://purl.obolibrary.org/obo/PATO_0000965 attribute_slim PATO:0000964 biolink:NamedThing transparent A optical quality inhering in a bearer by virtue of the bearer's lacking opacity. hp.json clear|hyaline http://purl.obolibrary.org/obo/PATO_0000964 value_slim|mpath_slim PATO:0000967 biolink:NamedThing undulate A shape quality inhering in a bearer by virtue of the bearer's having a sinuate margin and rippled surface. hp.json sinuate|rippled|wavy|undulating|waved|undulated http://purl.obolibrary.org/obo/PATO_0000967 value_slim|mpath_slim|cell_quality HP:0031625 biolink:PhenotypicFeature Pseudoaneurysm A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. hp.json http://purl.obolibrary.org/obo/HP_0031625 HP:0031626 biolink:PhenotypicFeature Coronary ostial atresia Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve. hp.json Atresia of coronary ostium http://purl.obolibrary.org/obo/HP_0031626 HP:0031627 biolink:PhenotypicFeature Globus pallidus calcification Pathological deposition of calcium salts in the globus pallidus. hp.json http://purl.obolibrary.org/obo/HP_0031627 HP:0031628 biolink:PhenotypicFeature Aborted sudden cardiac death Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. hp.json Sudden cardiac arrest http://purl.obolibrary.org/obo/HP_0031628 HP:0031621 biolink:PhenotypicFeature Anterior chamber flare grade 4+ Intense anterior chamber flare (fibrin/plastic aqueous). hp.json http://purl.obolibrary.org/obo/HP_0031621 HP:0031622 biolink:PhenotypicFeature Brown anomaly An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. hp.json Brown syndrome http://purl.obolibrary.org/obo/HP_0031622 OIO:inSubset biolink:NamedThing in_subset hp.json http://www.geneontology.org/formats/oboInOwl#inSubset HP:0031623 biolink:PhenotypicFeature Brow ptosis Drooping of the upper eyebrow below the superior orbital rim. hp.json Drooping brow http://purl.obolibrary.org/obo/HP_0031623 HP:0031624 biolink:PhenotypicFeature Moderate myopia A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters. hp.json http://purl.obolibrary.org/obo/HP_0031624 HP:0031629 biolink:PhenotypicFeature Impaired tandem gait Reduced ability to walk in a straight line while placing the feet heel to toe. hp.json Clumsy tandem walking http://purl.obolibrary.org/obo/HP_0031629 GO:0032353 biolink:NamedThing negative regulation of hormone biosynthetic process hp.json http://purl.obolibrary.org/obo/GO_0032353 GO:0032352 biolink:NamedThing positive regulation of hormone metabolic process hp.json http://purl.obolibrary.org/obo/GO_0032352 GO:0032351 biolink:NamedThing negative regulation of hormone metabolic process hp.json http://purl.obolibrary.org/obo/GO_0032351 GO:0032350 biolink:NamedThing regulation of hormone metabolic process hp.json http://purl.obolibrary.org/obo/GO_0032350 HP:0004090 biolink:PhenotypicFeature obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis hp.json http://purl.obolibrary.org/obo/HP_0004090 HP:0031630 biolink:PhenotypicFeature Abnormal subpleural morphology Any structural anomaly located between the pleura and the chest wall. hp.json http://purl.obolibrary.org/obo/HP_0031630 HP:0031631 biolink:PhenotypicFeature Subpleural honeycombing So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. hp.json http://purl.obolibrary.org/obo/HP_0031631 HP:0031636 biolink:PhenotypicFeature Anomalous origin of the right common carotid artery from the aorta The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta. hp.json http://purl.obolibrary.org/obo/HP_0031636 GO:0046939 biolink:BiologicalProcess nucleotide phosphorylation The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside. hp.json http://purl.obolibrary.org/obo/GO_0046939 HP:0031637 biolink:PhenotypicFeature Right coronary artery ostial atresia Absence of the normal opening of the coronary ostium from which the right main coronary artery originates. hp.json http://purl.obolibrary.org/obo/HP_0031637 HP:0031638 biolink:PhenotypicFeature Anomalous origin of the left anterior descending artery from the pulmonary artery The left anterior descending artery (LAD) branches off from the pulmonary artery. hp.json http://purl.obolibrary.org/obo/HP_0031638 HP:0031639 biolink:PhenotypicFeature Absent left main coronary artery The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava. hp.json Absent LMCA http://purl.obolibrary.org/obo/HP_0031639 HP:0031632 biolink:PhenotypicFeature Anomalous origin of the right subclavian artery from the descending aorta Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. hp.json http://purl.obolibrary.org/obo/HP_0031632 HP:0031633 biolink:PhenotypicFeature Isolation of the left subclavian artery The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus. Fyler:2732 hp.json http://purl.obolibrary.org/obo/HP_0031633 HP:0031634 biolink:PhenotypicFeature Anomalous origin of the left common carotid artery from the main pulmonary artery The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery. hp.json http://purl.obolibrary.org/obo/HP_0031634 HP:0031635 biolink:PhenotypicFeature Anomalous origin of the left common carotid artery from the brachiocephalic artery The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. hp.json Anomalous origin of the left common carotid artery from the brachiocephalic trunk http://purl.obolibrary.org/obo/HP_0031635 HP:0004083 biolink:PhenotypicFeature obsolete Laterally deviated terminal thumb phalanx hp.json http://purl.obolibrary.org/obo/HP_0004083 HP:0004060 biolink:PhenotypicFeature Trident hand A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. UMLS:C0426874|SNOMEDCT_US:249755001 hp.json trident abnormality|trident deformity http://purl.obolibrary.org/obo/HP_0004060 hposlim_core HP:0031640 biolink:PhenotypicFeature Abnormal radial artery morphology Any structural anomaly of the radial artery. hp.json http://purl.obolibrary.org/obo/HP_0031640 GO:0046942 biolink:BiologicalProcess carboxylic acid transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). hp.json http://purl.obolibrary.org/obo/GO_0046942 HP:0031647 biolink:PhenotypicFeature Saccular aortic arch aneurysm An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall. hp.json http://purl.obolibrary.org/obo/HP_0031647 HP:0031648 biolink:PhenotypicFeature Penetrating aortic ulcer A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture. hp.json http://purl.obolibrary.org/obo/HP_0031648 HP:0031649 biolink:PhenotypicFeature Aortic rupture Tearing of the aortic wall generally associated with profuse internal bleeding. hp.json http://purl.obolibrary.org/obo/HP_0031649 HP:0004059 biolink:PhenotypicFeature Radial club hand Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. UMLS:C4025414 hp.json http://purl.obolibrary.org/obo/HP_0004059 HP:0004058 biolink:PhenotypicFeature Hand monodactyly UMLS:C4025415 hp.json http://purl.obolibrary.org/obo/HP_0004058 HP:0031643 biolink:PhenotypicFeature Fusiform ascending tubular aorta aneurysm A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall. hp.json http://purl.obolibrary.org/obo/HP_0031643 HP:0031644 biolink:PhenotypicFeature Fusiform abdominal aortic aneurysm A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall hp.json http://purl.obolibrary.org/obo/HP_0031644 HP:0031645 biolink:PhenotypicFeature Saccular abdominal aortic aneurysm An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall. hp.json http://purl.obolibrary.org/obo/HP_0031645 HP:0031646 biolink:PhenotypicFeature Fusiform aortic arch aneurysm A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall. hp.json http://purl.obolibrary.org/obo/HP_0031646 HP:0004053 biolink:PhenotypicFeature Dysharmonic maturation of the hand bones Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand. UMLS:C4021685 hp.json Dysharmonic ossification of the hand bones|Disharmonic maturation of the hand bones http://purl.obolibrary.org/obo/HP_0004053 HP:0004052 biolink:PhenotypicFeature Delayed ossification of the hand bones Ossification of hand bones is less advanced than would be expected according to age-adjusted norms. UMLS:C4020833|UMLS:C4021686 hp.json Delay maturation/delayed ossification of the hand|Delayed maturation of the hand bones http://purl.obolibrary.org/obo/HP_0004052 HP:0004051 biolink:PhenotypicFeature Advanced ossification of the hand bones Ossification of hand bones at an earlier age than normal. UMLS:C4020834 hp.json Advanced maturation of the hand bones|Accelerated maturation of hand bones http://purl.obolibrary.org/obo/HP_0004051 GO:0032332 biolink:BiologicalProcess positive regulation of chondrocyte differentiation Any process that activates or increases the frequency, rate or extent of chondrocyte differentiation. hp.json activation of chondrocyte differentiation|stimulation of chondrocyte differentiation|upregulation of chondrocyte differentiation|up-regulation of chondrocyte differentiation|up regulation of chondrocyte differentiation http://purl.obolibrary.org/obo/GO_0032332 HP:0004050 biolink:PhenotypicFeature Absent hand The total absence of the hand, with no bony elements distal to the radius or ulna. UMLS:C0265594|SNOMEDCT_US:371199008 hp.json Acheiria|Absent hand http://purl.obolibrary.org/obo/HP_0004050 hposlim_core HP:0004057 biolink:PhenotypicFeature Mitten deformity Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity. UMLS:C1969236 hp.json Pseudosyndactyly http://purl.obolibrary.org/obo/HP_0004057 GO:0032331 biolink:BiologicalProcess negative regulation of chondrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of chondrocyte differentiation. hp.json down-regulation of chondrocyte differentiation|down regulation of chondrocyte differentiation|inhibition of chondrocyte differentiation|downregulation of chondrocyte differentiation http://purl.obolibrary.org/obo/GO_0032331 GO:0032330 biolink:BiologicalProcess regulation of chondrocyte differentiation Any process that modulates the frequency, rate or extent of chondrocyte differentiation. hp.json http://purl.obolibrary.org/obo/GO_0032330 HP:0004054 biolink:PhenotypicFeature Sclerosis of hand bone Osteosclerosis affecting one or more bones of the hand. UMLS:C4021684 hp.json Hand bone sclerosis|Increased bone density in hand bone|Generalized sclerosis of hand bones|Increased bone density in hand bones|Generalised sclerosis of hand bones http://purl.obolibrary.org/obo/HP_0004054 HP:0031650 biolink:PhenotypicFeature Abnormal atrioventricular valve physiology Any functional defect of the mitral or tricuspid valve. hp.json http://purl.obolibrary.org/obo/HP_0031650 GO:0007389 biolink:BiologicalProcess pattern specification process Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate. hp.json pattern formation|pattern biosynthesis http://purl.obolibrary.org/obo/GO_0007389 goslim_drosophila HP:0031651 biolink:PhenotypicFeature Abnormal tricuspid valve physiology Any functional defect of the tricuspid valve. hp.json http://purl.obolibrary.org/obo/HP_0031651 HP:0031652 biolink:PhenotypicFeature Abnormal aortic valve physiology hp.json http://purl.obolibrary.org/obo/HP_0031652 GO:0046951 biolink:BiologicalProcess ketone body biosynthetic process The chemical reactions and pathways resulting in the formation of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Biosynthesis involves the formation of hydroxymethylglutaryl-CoA, which is cleaved to acetate and acetyl-CoA. hp.json ketone body anabolism|ketone body synthesis|ketone body formation|ketone body biosynthesis http://purl.obolibrary.org/obo/GO_0046951 HP:0031653 biolink:PhenotypicFeature Abnormal heart valve physiology Any functional abnormality of a cardiac valve. hp.json http://purl.obolibrary.org/obo/HP_0031653 GO:0046950 biolink:BiologicalProcess cellular ketone body metabolic process The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism. hp.json cellular ketone body metabolism http://purl.obolibrary.org/obo/GO_0046950 goslim_pir PATO:0000998 biolink:NamedThing viscous A viscosity quality inhering in a bearer by virtue of the bearer's having viscosity. hp.json http://purl.obolibrary.org/obo/PATO_0000998 disposition_slim|value_slim|mpath_slim HP:0031658 biolink:PhenotypicFeature Third heart sound The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients. hp.json S3|Ventricular gallop http://purl.obolibrary.org/obo/HP_0031658 HP:0031659 biolink:PhenotypicFeature Fourth heart sound The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction. hp.json S4|Presystolic gallop|Atrial gallop http://purl.obolibrary.org/obo/HP_0031659 HP:0031654 biolink:PhenotypicFeature Abnormal pulmonary valve physiology Any functional anomaly of the pumonary valve. hp.json http://purl.obolibrary.org/obo/HP_0031654 HP:0031655 biolink:PhenotypicFeature Quadricuspid aortic valve The presence of an aortic valve with four instead of the normal three cusps (flaps). hp.json http://purl.obolibrary.org/obo/HP_0031655 PATO:0000992 biolink:NamedThing viscosity A physical quality of a fluid inhering in a bearer by virtue of the bearer's disposition to internal resistance to flow. hp.json http://purl.obolibrary.org/obo/PATO_0000992 attribute_slim|disposition_slim HP:0031656 biolink:PhenotypicFeature Systolic anterior motion of the mitral valve Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. hp.json http://purl.obolibrary.org/obo/HP_0031656 HP:0031657 biolink:PhenotypicFeature Abnormal heart sound Any abnormal noise generated by the beating heart. hp.json http://purl.obolibrary.org/obo/HP_0031657 HP:0004066 biolink:PhenotypicFeature obsolete Laterally deviated thumb phalanges hp.json http://purl.obolibrary.org/obo/HP_0004066 PATO:0000927 biolink:NamedThing photosensitivity A quality inhering in a bearer by virtue of the bearer's disposition to being sensitivity to the action of radiant energy. hp.json http://purl.obolibrary.org/obo/PATO_0000927 attribute_slim|scalar_slim|disposition_slim PATO:0000921 biolink:NamedThing width A 1-D extent quality which is equal to the distance from one side of an object to another side which is opposite. hp.json breadth http://purl.obolibrary.org/obo/PATO_0000921 scalar_slim|attribute_slim HP:0006619 biolink:PhenotypicFeature Anterior rib punctate calcifications Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. UMLS:C1859120 hp.json http://purl.obolibrary.org/obo/HP_0006619 HP:0006615 biolink:PhenotypicFeature Absent in utero rib ossification Lack of formation and mineralization of the ribs in utero. UMLS:C1842695 hp.json Absent rib calcification in utero http://purl.obolibrary.org/obo/HP_0006615 HP:0006610 biolink:PhenotypicFeature Wide intermamillary distance A larger than usual distance between the left and right nipple. SNOMEDCT_US:423230008|UMLS:C1827524 hp.json Widely spaced nipples|Widely-spaced nipples|Wide-spaced nipples http://purl.obolibrary.org/obo/HP_0006610 hposlim_core HP:0006611 biolink:PhenotypicFeature Decreased number of sternal ossification centers A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms. UMLS:C1856223 hp.json Decreased number of sternal ossification centres http://purl.obolibrary.org/obo/HP_0006611 UBERON:0002195 biolink:AnatomicalEntity trabecula of lymph node Membranous process coming from capsule of lymph node[WP]. NCIT:C33035|UMLS:C1184179|MA:0000746|FMA:74605 hp.json lymph node trabecula|lymph node trabeculae|trabeculae of lymph node|lymph node trabeculum http://purl.obolibrary.org/obo/UBERON_0002195 pheno_slim|human_reference_atlas HP:0006625 biolink:PhenotypicFeature Multifocal breast carcinoma Breast carcinoma that is bilateral or otherwise multifocal. UMLS:C2986662 hp.json Multifocal breast cancer http://purl.obolibrary.org/obo/HP_0006625 UBERON:0002194 biolink:AnatomicalEntity capsule of lymph node Capsule surrounding lymph node composed of connective tissue with some plain muscle fibers. NCIT:C33028|FMA:74604|UMLS:C0229699|MA:0000739|EMAPA:35524 hp.json lymph node capsule|capsula nodi lymphoidei http://purl.obolibrary.org/obo/UBERON_0002194 human_reference_atlas|uberon_slim UBERON:0002196 biolink:AnatomicalEntity adenohypophysis The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. VHOG:0000141|FMA:74627|BAMS:AHY|UMLS:C0032008|UMLS:C1280369|BIRNLEX:1581|MA:0000177|NCIT:C12772|AAO:0010540|UMLS:C0032008|ZFA:0001282|MESH:D010903|TAO:0001282|BM:AHy|EFO:0000230|EMAPA:17514|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=407|EHDAA2:0000109|BAMS:AL|CALOHA:TS-0794|BAMS:APit|BTO:0000040 hp.json anterior lobe of pituitary gland|pituitary anterior lobe|anterior lobe of pituitary|anterior pituitary gland|lobus anterior hypophysis|anterior lobe of the pituitary|anterior pituitary|cranial lobe|anterior lobe (hypophysis)|AHP|pituitary glandanterior lobe|pituitary gland, anterior lobe|anterior lobe of hypophysis|lobus anterior|lobus anterior (glandula pituitaria)|anterior hypophysis|rostral lobe http://purl.obolibrary.org/obo/UBERON_0002196 vertebrate_core|pheno_slim|efo_slim|uberon_slim HP:0006628 biolink:PhenotypicFeature Absent sternal ossification Lack of formation of mineralized bony tissue of the sternum. UMLS:C4280443|UMLS:C1857074 hp.json Lack of sternal ossification|Absent sternal mineralization|Absent bone maturation in sternum http://purl.obolibrary.org/obo/HP_0006628 UBERON:0002191 biolink:AnatomicalEntity subiculum Part of the hippocampal formation that is bounded by the entorhinal cortex and area CA1. It is characterized on the CA1 border by an abrupt widening of the pyramidal cell layer. A molecular layer is present that is continuous with that of CA1, although the stratum radiatum is no longer present. The stratum oriens is also not present. adapted from Paxinos, G. The rat central nervous system, 2nd ed, Academic Press, San Diego, 1995, pg. 468). BAMS:SUB|FMA:74414|MBA:502|DMBA:16163|BM:Tel-Cx-SB|EMAPA:35832|PBA:10054|BIRNLEX:1305|NCIT:C33648|HBA:12896|BTO:0003087|DHBA:10302|BAMS:S|UMLS:C0152316|DHBA:10301|MA:0000960|PBA:128012354 hp.json subicular cortex|subiculum hippocampi|gyrus parahippocampalis|subiculum cornu ammonis http://purl.obolibrary.org/obo/UBERON_0002191 pheno_slim|uberon_slim UBERON:0002190 biolink:AnatomicalEntity subcutaneous adipose tissue A portion of adipose tissue that is part of the hypodermis, beneath the dermis. FMA:74315|MA:0000473|BTO:0004042|EMAPA:35829 hp.json panniculus adiposus|subcutaneous fat layer|hypodermis fat layer|panniculus adiposus (tela subcutanea)|panniculus adiposus telae subcutaneae|subcutaneous fat|fatty layer of superficial fascia|fatty layer of subcutaneous tissue http://purl.obolibrary.org/obo/UBERON_0002190 pheno_slim|human_reference_atlas UBERON:0002193 biolink:AnatomicalEntity hemolymphoid system Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. MA:0000013|FMA:74562|CALOHA:TS-2018|EMAPA:18765|EHDAA2:0004615 hp.json haemolymphoid system|hematolymphoid system|lymphomyeloid complex http://purl.obolibrary.org/obo/UBERON_0002193 HP:0006623 biolink:PhenotypicFeature Costochondral joint sclerosis Abnormal increase in density of the tissue at the costochondral junctions. UMLS:C4021588 hp.json Sclerotic costochondral joints http://purl.obolibrary.org/obo/HP_0006623 UBERON:0002199 biolink:AnatomicalEntity integument The dermis, epidermis and hypodermis. TAO:0000368|AAO:0000239|EMAPA:37504|FMA:74657|BTO:0000634|VSAO:0000029|Wikipedia:Integument|galen:Integument|ZFA:0000368 hp.json tegument|vertebrate integument|dermal system|skin|skin plus hypodermis|the integument|integumentum commune|dermis plus epidermis plus hypodermis|dermoid system|skin and subcutaneous tissue http://purl.obolibrary.org/obo/UBERON_0002199 vertebrate_core|pheno_slim|uberon_slim UBERON:0002198 biolink:AnatomicalEntity neurohypophysis The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. VHOG:0000142|AAO:0010537|FMA:74628|UMLS:C0032009|MA:0000178|EHDAA:7536|BAMS:NHY|CALOHA:TS-0815|BM:NY|NCIT:C12773|DMBA:15691|EMAPA:17519|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=401|ZFA:0001271|MESH:D010904|UMLS:C1280368|BAMS:NL|TAO:0001271|UMLS:C0032009|EHDAA2:0001271|BAMS:NHP|BAMS:PPit|BIRNLEX:1586|BTO:0000937 hp.json pituitary gland, posterior lobe|lobus nervosus|lobus nervosus neurohypophysis|lobus posterior (glandula pituitaria)|NHP|infundibular process|lobus posterior|neural lobe|lobus posterior hypophysis|posterior lobe of pituitary gland|neural lobe of pituitary gland|neurohypophysis|pituitary gland neural lobe|neural lobe of pituitary|posterior lobe of pituitary|pituitary gland, neural lobe|posterior pituitary|posterior lobe of hypophysis|neuro hypophysis|posterior pituitary gland http://purl.obolibrary.org/obo/UBERON_0002198 vertebrate_core|pheno_slim|uberon_slim PATO:0000947 biolink:NamedThing elliptic A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. hp.json ellipsoid|ellipse-shaped|ovoid|oval|elliptical http://purl.obolibrary.org/obo/PATO_0000947 mpath_slim|cell_quality|value_slim PATO:0000946 biolink:NamedThing oblong A shape quality inhering in a bearer by virtue of the bearer's having a somewhat elongated form with approximately parallel sides. hp.json http://purl.obolibrary.org/obo/PATO_0000946 mpath_slim|cell_quality|value_slim PATO:0000941 biolink:NamedThing vacuolated A structural quality inhering in a cytoplasm that contains fluid filled cavities. hp.json http://purl.obolibrary.org/obo/PATO_0000941 cell_quality|value_slim|mpath_slim PATO:0000944 biolink:NamedThing sharpness A shape quality inhering in a bearer by virtue of the bearer's having a sharp or tapered end or point. hp.json apiculate http://purl.obolibrary.org/obo/PATO_0000944 cell_quality|attribute_slim HP:0031603 biolink:PhenotypicFeature Impaired nasal mucociliary clearance An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes. hp.json Abnormal saccharine test http://purl.obolibrary.org/obo/HP_0031603 HP:0031604 biolink:PhenotypicFeature Agenesis of the carotid canal A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. hp.json Bony carotid canal agenesis http://purl.obolibrary.org/obo/HP_0031604 UBERON:0002186 biolink:AnatomicalEntity bronchiole The conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching. MESH:D055745|CALOHA:TS-2003|MA:0000422|EHDAA:8183|EHDAA:8171|FMA:7410|NCIT:C12684|UMLS:C0006270|EMAPA:32697|OpenCyc:Mx4rvl9iDpwpEbGdrcN5Y29ycA|VHOG:0000675|BTO:0002375|EHDAA:8221|EHDAA:8199 hp.json bronchiolus|bronchioli|lobular bronchiole http://purl.obolibrary.org/obo/UBERON_0002186 pheno_slim|uberon_slim HP:0031605 biolink:PhenotypicFeature Abnormality of fundus pigmentation Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. hp.json http://purl.obolibrary.org/obo/HP_0031605 UBERON:0002185 biolink:AnatomicalEntity bronchus The upper conducting airways of the lung; these airways arise from the terminus of the trachea. VHOG:0000262|UMLS:C0006255|EFO:0000932|XAO:0000121|EMAPA:32689|MESH:D001980|NCIT:C12683|MAT:0000133|FMA:7409|CALOHA:TS-1229|MIAA:0000133|EV:0100041|MA:0000436|BTO:0001340|GAID:346 hp.json bronchial tissue|bronchial trunk|bronchi http://purl.obolibrary.org/obo/UBERON_0002185 organ_slim|pheno_slim|efo_slim|uberon_slim HP:0031606 biolink:PhenotypicFeature Retinal cotton wool spot Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. hp.json http://purl.obolibrary.org/obo/HP_0031606 UBERON:0002180 biolink:AnatomicalEntity ventral funiculus of spinal cord The white substance of the spinal cord lying on either side between the ventral median fissure and the ventral roots of the spinal nerves. ZFA:0000605|FMA:74003|NLX:379|TAO:0000605 hp.json anterior white column of spinal cord|ventral white column of spinal cord|anterior funiculus|funiculus anterior medullae spinalis|ventral funiculus of spinal cord|ventral funiculi|anterior funiculus of spinal cord|ventral funiculus http://purl.obolibrary.org/obo/UBERON_0002180 uberon_slim|vertebrate_core HP:0031600 biolink:PhenotypicFeature P wave inversion P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves. hp.json http://purl.obolibrary.org/obo/HP_0031600 HP:0031601 biolink:PhenotypicFeature P pulmonale The presence of tall, peaked P waves in EKG lead II. hp.json http://purl.obolibrary.org/obo/HP_0031601 HP:0031602 biolink:PhenotypicFeature Abnormal mucociliary clearance An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating. hp.json Abnormal mucociliary transport http://purl.obolibrary.org/obo/HP_0031602 HP:0031607 biolink:PhenotypicFeature Pelvic organ prolapse Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position. hp.json http://purl.obolibrary.org/obo/HP_0031607 UBERON:0002187 biolink:AnatomicalEntity terminal bronchiole The last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls. MA:0000424|OpenCyc:Mx4rwS7IU5wpEbGdrcN5Y29ycA|FMA:7411|NCIT:C33754|EMAPA:36282|UMLS:C0225666|BTO:0003223 hp.json bronchioli terminalis|bronchiolus terminalis|terminal bronchiole tube http://purl.obolibrary.org/obo/UBERON_0002187 uberon_slim|pheno_slim|human_reference_atlas HP:0031609 biolink:PhenotypicFeature Geographic atrophy Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium. hp.json http://purl.obolibrary.org/obo/HP_0031609 PATO:0000957 biolink:NamedThing opacity An optical quality which obtains by virtue of the ability of the bearer to absorb visible light. hp.json http://purl.obolibrary.org/obo/PATO_0000957 attribute_slim PATO:0000950 biolink:NamedThing grey A color between white and black colors. hp.json plumbeous http://purl.obolibrary.org/obo/PATO_0000950 value_slim|mpath_slim HP:0006607 biolink:PhenotypicFeature Precocious costochondral ossification Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage. UMLS:C1849049 hp.json http://purl.obolibrary.org/obo/HP_0006607 HP:0006608 biolink:PhenotypicFeature Midclavicular hypoplasia Underdevelopment of the middle portion of the clavicle. UMLS:C1844530 hp.json Underdeveloped middle portion of the collarbone http://purl.obolibrary.org/obo/HP_0006608 PATO:0000956 biolink:NamedThing sterile A fertility quality inhering in a bearer by virtue of the bearer's being incapable of initiating, sustaining, or supporting reproduction. hp.json http://purl.obolibrary.org/obo/PATO_0000956 disposition_slim|value_slim HP:0006603 biolink:PhenotypicFeature Flared, irregular rib ends UMLS:C1865833 hp.json Flared, irregular rib ends http://purl.obolibrary.org/obo/HP_0006603 HP:0031614 biolink:PhenotypicFeature Inferior retinal coloboma A notch or cleft of the lower part of the retina. hp.json http://purl.obolibrary.org/obo/HP_0031614 HP:0031615 biolink:PhenotypicFeature Hypopyon Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber. hp.json http://purl.obolibrary.org/obo/HP_0031615 HP:0031616 biolink:PhenotypicFeature Anterior chamber flare An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber. hp.json http://purl.obolibrary.org/obo/HP_0031616 HP:0006606 biolink:PhenotypicFeature Irregular chondrocostal junctions Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. UMLS:C1861199 hp.json Irregular costochondral margins http://purl.obolibrary.org/obo/HP_0006606 HP:0031610 biolink:PhenotypicFeature Recurrent shoulder dislocation Shoulder dislocation occurring repeated times. hp.json Multiple shoulder dislocation http://purl.obolibrary.org/obo/HP_0031610 HP:0031611 biolink:PhenotypicFeature Sub-inner limiting membrane hemorrhage A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer. hp.json Sub-inner limiting membrane haemorrhage|Sub-ILM haemorrhage|Sub-ILM hemorrhage http://purl.obolibrary.org/obo/HP_0031611 HP:0006600 biolink:PhenotypicFeature Progressive calcification of costochondral cartilage UMLS:C1968577 hp.json http://purl.obolibrary.org/obo/HP_0006600 HP:0031613 biolink:PhenotypicFeature Inferior chorioretinal coloboma Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus. hp.json http://purl.obolibrary.org/obo/HP_0031613 HP:0031618 biolink:PhenotypicFeature Anterior chamber flare grade 1+ Faint anterior chamber flare. hp.json http://purl.obolibrary.org/obo/HP_0031618 HP:0031619 biolink:PhenotypicFeature Anterior chamber flare grade 2+ Moderate anterior chamber flare (iris and lens details clear). hp.json http://purl.obolibrary.org/obo/HP_0031619 HP:0006659 biolink:PhenotypicFeature Internally rotated shoulders UMLS:C1862491 hp.json Internally rotated shoulders http://purl.obolibrary.org/obo/HP_0006659 HP:0006655 biolink:PhenotypicFeature Rib segmentation abnormalities UMLS:C1968999 hp.json http://purl.obolibrary.org/obo/HP_0006655 HP:0006657 biolink:PhenotypicFeature Hypoplasia of first ribs UMLS:C1834386 hp.json Small first rib|Hypoplastic first rib|Underdeveloped first rib|Hypoplastic first ribs http://purl.obolibrary.org/obo/HP_0006657 HP:0006650 biolink:PhenotypicFeature Thickening of the lateral border of the scapula UMLS:C1834383 hp.json Thickening of the lateral border of the shoulder blade http://purl.obolibrary.org/obo/HP_0006650 HP:0004006 biolink:PhenotypicFeature Round radial epiphyses UMLS:C4025451 hp.json http://purl.obolibrary.org/obo/HP_0004006 HP:0004005 biolink:PhenotypicFeature Large radial epiphyses UMLS:C4025452 hp.json http://purl.obolibrary.org/obo/HP_0004005 HP:0004004 biolink:PhenotypicFeature Irregular radial epiphyses UMLS:C4025453 hp.json http://purl.obolibrary.org/obo/HP_0004004 HP:0004003 biolink:PhenotypicFeature Medially flattened radial epiphyses UMLS:C4025454 hp.json http://purl.obolibrary.org/obo/HP_0004003 HP:0006665 biolink:PhenotypicFeature Coat hanger sign of ribs An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). UMLS:C4025010 hp.json Coat hanger sign of ribs http://purl.obolibrary.org/obo/HP_0006665 HP:0004009 biolink:PhenotypicFeature Medially sloping radial epiphyses UMLS:C4025448 hp.json http://purl.obolibrary.org/obo/HP_0004009 HP:0004008 biolink:PhenotypicFeature Sloping radial epiphyses UMLS:C4025449 hp.json http://purl.obolibrary.org/obo/HP_0004008 HP:0004007 biolink:PhenotypicFeature Sclerotic radial epiphyses UMLS:C4025450 hp.json http://purl.obolibrary.org/obo/HP_0004007 HP:0006668 biolink:PhenotypicFeature Twelfth rib hypoplasia UMLS:C1859361 hp.json Small twelfth rib|Underdeveloped twelfth rib http://purl.obolibrary.org/obo/HP_0006668 HP:0004002 biolink:PhenotypicFeature Flattened radial epiphyses UMLS:C4025455 hp.json http://purl.obolibrary.org/obo/HP_0004002 HP:0004001 biolink:PhenotypicFeature Medially deficient radial epiphyses UMLS:C4025456 hp.json http://purl.obolibrary.org/obo/HP_0004001 HP:0004000 biolink:PhenotypicFeature Cone-shaped distal radial epiphysis The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance. UMLS:C4025457 hp.json Chevron-shaped distal radial epiphysis http://purl.obolibrary.org/obo/HP_0004000 HP:0006660 biolink:PhenotypicFeature Aplastic clavicle Absence of the clavicles as a developmental defect. UMLS:C1857665 hp.json Absent collarbone|Absent clavicles|Aplastic clavicles http://purl.obolibrary.org/obo/HP_0006660 hposlim_core HP:0006637 biolink:PhenotypicFeature Sternal punctate calcifications UMLS:C1859121 hp.json http://purl.obolibrary.org/obo/HP_0006637 GO:0032292 biolink:BiologicalProcess peripheral nervous system axon ensheathment The process in which a Schwann cell membrane closes around an axon in the peripheral nervous system. This can be a myelinating or a non-myelinating neuron-glial interaction. hp.json ensheathment of axons in peripheral nervous system http://purl.obolibrary.org/obo/GO_0032292 HP:0006638 biolink:PhenotypicFeature Midclavicular aplasia Developmental defect resulting in congenital absence of the middle portion of the clavicle. UMLS:C1844529 hp.json Missing middle part of collarbone http://purl.obolibrary.org/obo/HP_0006638 GO:0032291 biolink:BiologicalProcess axon ensheathment in central nervous system The process in which a glial cell membrane closes around an axon in the central nervous system. This can be a myelinating or a non-myelinating neuron-glial interaction. hp.json ensheathment of axons in central nervous system http://purl.obolibrary.org/obo/GO_0032291 GO:0032290 biolink:BiologicalProcess peripheral nervous system myelin formation The process in which the wraps of cell membrane that constitute myelin are laid down around an axon by Schwann cells in the peripheral nervous system. hp.json myelin formation in peripheral nervous system http://purl.obolibrary.org/obo/GO_0032290 HP:0006633 biolink:PhenotypicFeature Glenoid fossa hypoplasia Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. UMLS:C1834384 hp.json Hypoplastic glenoid fossa|Glenoid hypoplasia http://purl.obolibrary.org/obo/HP_0006633 hposlim_core HP:0006634 biolink:PhenotypicFeature Osteosclerosis of ribs Osteosclerosis of ribs (increased density related to increased bone mass). UMLS:C4025013 hp.json Increased bone density in ribs http://purl.obolibrary.org/obo/HP_0006634 HP:0006631 biolink:PhenotypicFeature Hypoplastic distal segments of scapulae UMLS:C4025014 hp.json Small outermost segments of shoulder blade|Small distal segments of the shoulder blade|Underdeveloped outermost segments of shoulder blade http://purl.obolibrary.org/obo/HP_0006631 PATO:0000915 biolink:NamedThing thickness A 1-D extent quality which is equal to the dimension through an object as opposed to its length or width. hp.json http://purl.obolibrary.org/obo/PATO_0000915 attribute_slim|scalar_slim PATO:0000918 biolink:NamedThing volume A 3-D extent quality inhering in a bearer by virtue of the bearer's amount of 3-dimensional space it occupies. hp.json http://purl.obolibrary.org/obo/PATO_0000918 scalar_slim|attribute_slim|mpath_slim PATO:0000912 biolink:NamedThing increased rate A rate which is relatively high. hp.json fast rate|high rate http://purl.obolibrary.org/obo/PATO_0000912 value_slim|mpath_slim PATO:0000911 biolink:NamedThing decreased rate A rate which is relatively low. hp.json slow rate http://purl.obolibrary.org/obo/PATO_0000911 mpath_slim|value_slim HP:0006647 biolink:PhenotypicFeature Congenital microthorax UMLS:C4025011 hp.json http://purl.obolibrary.org/obo/HP_0006647 HP:0006649 biolink:PhenotypicFeature Costochondral pain Chest wall pain in the area of the costochondral junctions. UMLS:C4021587 hp.json Costochondral junction pain http://purl.obolibrary.org/obo/HP_0006649 HP:0006643 biolink:PhenotypicFeature Fused sternal ossification centers UMLS:C1859376 hp.json Fused sternal ossification centres http://purl.obolibrary.org/obo/HP_0006643 HP:0006644 biolink:PhenotypicFeature Thoracic dysplasia UMLS:C1406921 hp.json http://purl.obolibrary.org/obo/HP_0006644 HP:0006645 biolink:PhenotypicFeature Thin clavicles Abnormally reduced diameter (cross section) of the clavicles. UMLS:C0575535|SNOMEDCT_US:298764003 hp.json Thin collarbone http://purl.obolibrary.org/obo/HP_0006645 HP:0006646 biolink:PhenotypicFeature Costal cartilage calcification Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. UMLS:C1855608 hp.json Cartilaginous ossification of rib http://purl.obolibrary.org/obo/HP_0006646 HP:0006640 biolink:PhenotypicFeature Multiple rib fractures More than one fracture of the ribs. UMLS:C0272567|SNOMEDCT_US:1261007 hp.json Multiple rib fractures http://purl.obolibrary.org/obo/HP_0006640 HP:0006641 biolink:PhenotypicFeature Prominent floating ribs UMLS:C4025012 hp.json Prominent floating ribs http://purl.obolibrary.org/obo/HP_0006641 GO:0032289 biolink:BiologicalProcess central nervous system myelin formation The process in which the wraps of cell membrane that constitute myelin are laid down around an axon by an oligodendrocyte in the central nervous system. hp.json myelin formation in central nervous system http://purl.obolibrary.org/obo/GO_0032289 HP:0006642 biolink:PhenotypicFeature Large sternal ossification centers UMLS:C1865241 hp.json Large sternal ossification centres http://purl.obolibrary.org/obo/HP_0006642 GO:0032288 biolink:BiologicalProcess myelin assembly The process in which the wraps of cell membrane that constitute myelin are laid down around an axon in the central or peripheral nervous system. hp.json myelin formation http://purl.obolibrary.org/obo/GO_0032288 GO:0032286 biolink:BiologicalProcess central nervous system myelin maintenance The process in which the structure and material content of mature central nervous system myelin is kept in a functional state. hp.json myelin maintenance in central nervous system http://purl.obolibrary.org/obo/GO_0032286 GO:0044262 biolink:BiologicalProcess cellular carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. hp.json cellular carbohydrate metabolism|main pathways of carbohydrate metabolic process|main pathways of carbohydrate metabolism http://purl.obolibrary.org/obo/GO_0044262 GO:0010927 biolink:BiologicalProcess cellular component assembly involved in morphogenesis The cellular component assembly that is part of the initial shaping of the component during its developmental progression. hp.json http://purl.obolibrary.org/obo/GO_0010927 GO:0044260 biolink:BiologicalProcess cellular macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. hp.json cellular macromolecule metabolism|cellular biopolymer metabolic process http://purl.obolibrary.org/obo/GO_0044260 UBERON:0002119 biolink:AnatomicalEntity left ovary An ovary that is part of a left side of organism [Automatically generated definition]. FMA:7214|UMLS:C0227874|EMAPA:37366|MA:0001704|NCIT:C32969|SCTID:280124008 hp.json http://purl.obolibrary.org/obo/UBERON_0002119 UBERON:0002118 biolink:AnatomicalEntity right ovary An ovary that is part of a right side of organism [Automatically generated definition]. FMA:7213|UMLS:C0227873|NCIT:C33487|EMAPA:37367|MA:0001705|SCTID:280123002 hp.json http://purl.obolibrary.org/obo/UBERON_0002118 GO:0010921 biolink:BiologicalProcess regulation of phosphatase activity Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. hp.json http://purl.obolibrary.org/obo/GO_0010921 GO:0010922 biolink:BiologicalProcess positive regulation of phosphatase activity Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. hp.json http://purl.obolibrary.org/obo/GO_0010922 GO:0044267 biolink:BiologicalProcess cellular protein metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. hp.json cellular protein metabolism http://purl.obolibrary.org/obo/GO_0044267 GO:0010923 biolink:BiologicalProcess negative regulation of phosphatase activity Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. hp.json http://purl.obolibrary.org/obo/GO_0010923 GO:0044264 biolink:NamedThing cellular polysaccharide metabolic process hp.json http://purl.obolibrary.org/obo/GO_0044264 UBERON:0004781 biolink:AnatomicalEntity gall bladder lamina propria A lamina propria that is part of a gallbladder [Automatically generated definition]. UMLS:C1708175|MA:0001633|FMA:278594|EMAPA:35371|NCIT:C49228 hp.json lamina propria of gallbladder|gall bladder lamina propria mucosa|biliary lamina propria|lamina propria of gall bladder|gallbladder lamina propria mucosa|gallbladder lamina propria|lamina propria mucosa of gall bladder|lamina propria mucosa of gallbladder http://purl.obolibrary.org/obo/UBERON_0004781 UBERON:0004782 biolink:AnatomicalEntity gastrointestinal system serosa A serous membrane that is part of a digestive system [Automatically generated definition]. EMAPA:37592|MA:0001522 hp.json gastrointestinal system serous membrane|digestive system serosa|digestive system serous membrane|serosa of digestive system|serous membrane of gastrointestinal system|serous membrane of digestive system|serosa of gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0004782 UBERON:0002120 biolink:AnatomicalEntity pronephros In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. ZFA:0000151|AAO:0011089|TAO:0000151|MESH:D060910|VHOG:0000037|EHDAA2:0001570|BTO:0001541|EMAPA:16579|EFO:0000927|NCIT:C34280|FMA:72170|UMLS:C0231048|EHDAA:1017|MAT:0000117|XAO:0002000|MIAA:0000117 hp.json archinephron|pronephric kidney|pronephron|embryonic kidney http://purl.obolibrary.org/obo/UBERON_0002120 efo_slim|uberon_slim|organ_slim UBERON:0004780 biolink:AnatomicalEntity gastrointestinal system lamina propria A lamina propria that is part of a gastrointestinal system. UMLS:C1708197|NCIT:C49299|MA:0001899 hp.json http://purl.obolibrary.org/obo/UBERON_0004780 UBERON:0004789 biolink:AnatomicalEntity larynx mucous gland A mucous gland that is part of a larynx [Automatically generated definition]. EMAPA:37631|MA:0001767 hp.json mucous gland of larynx http://purl.obolibrary.org/obo/UBERON_0004789 GO:0071888 biolink:BiologicalProcess macrophage apoptotic process Any apoptotic process in a macrophage, a mononuclear phagocyte present in a variety of tissues. hp.json activation-induced cell death|AICD|macrophage apoptosis http://purl.obolibrary.org/obo/GO_0071888 UBERON:0002125 biolink:AnatomicalEntity thymus lobule A lobule that is part of a thymus. Divided into an outer cortex and inner medulla and separated from each other by connective tissue septa, but with the medullary tissue continuous from lobule to lobule.[ncit,modified]. FMA:72215|MA:0000770|NCIT:C33772|UMLS:C1522462 hp.json lobule of thymus|thymus lobule|thymic lobule http://purl.obolibrary.org/obo/UBERON_0002125 pheno_slim|human_reference_atlas GO:0071887 biolink:BiologicalProcess leukocyte apoptotic process Any apoptotic process in a leukocyte, an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. hp.json leukocyte apoptosis http://purl.obolibrary.org/obo/GO_0071887 UBERON:0002128 biolink:AnatomicalEntity superior olivary complex A collection of brainstem nuclei that functions in multiple aspects of hearing and is an important component of the ascending and descending auditory pathways of the auditory system. HBA:9177|UMLS:C0175427|VHOG:0001381|FMA:72247|DHBA:12462|BIRNLEX:1307|EV:0100263|Wikipedia:Superior_olivary_complex|MBA:398|BAMS:SOC|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=569|EMAPA:35840|MESH:D065832|MA:0001026 hp.json nucleus olivaris superior|superior olivary nuclei|superior olivary nucleus (Barr & Kiernan)|superior olivary nucleus|regio olivaris superioris|superior olive http://purl.obolibrary.org/obo/UBERON_0002128 uberon_slim UBERON:0004785 biolink:AnatomicalEntity respiratory system mucosa The mucous membrane lining the respiratory tract. EMAPA:37577|BTO:0000973|MA:0001827|FMA:302092|GAID:304|MESH:D020545|EMAPA:18334 hp.json apparatus respiratorius mucosa|respiratory system mucous membrane|mucosa of organ of respiratory system|mucous membrane of apparatus respiratorius|apparatus respiratorius mucosa of organ|mucosa of apparatus respiratorius|mucosa of respiratory system|mucous membrane of respiratory system|respiratory tract mucosa|mucosa of organ of apparatus respiratorius|respiratory mucosa|apparatus respiratorius mucous membrane|laryngeal mucous membrane|respiratory system mucosa of organ http://purl.obolibrary.org/obo/UBERON_0004785 pheno_slim UBERON:0002122 biolink:AnatomicalEntity capsule of thymus The fibrous connective tissue surrounding the thymus. NCIT:C33770|UMLS:C0229945|EMAPA:19306|MA:0000766|FMA:72204 hp.json thymus capsule|thymic capsule http://purl.obolibrary.org/obo/UBERON_0002122 pheno_slim|human_reference_atlas UBERON:0004786 biolink:AnatomicalEntity gastrointestinal system mucosa A mucosa that is part of a gastrointestinal system. BTO:0005568|MA:0001521|SCTID:410433007|BTO:0000546|EMAPA:36591 hp.json gut mucosa|mucosa of gut|digestive tract mucosa|gut mucuous membrane|mucosa of gut|digestive tract mucosa|gut mucuous membrane http://purl.obolibrary.org/obo/UBERON_0004786 UBERON:0002124 biolink:AnatomicalEntity medulla of thymus Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size. UMLS:C0229949|EMAPA:19305|EFO:0001969|BTO:0004560|FMA:72206|NCIT:C33775|MA:0000771 hp.json medulla of thymus gland|thymus gland medulla|thymus medulla http://purl.obolibrary.org/obo/UBERON_0002124 pheno_slim|human_reference_atlas|efo_slim UBERON:0004783 biolink:AnatomicalEntity gall bladder serosa A serous membrane that is part of a gallbladder [Automatically generated definition]. FMA:14659|MA:0001634|EMAPA:35372 hp.json serous coat of gallbladder|biliary serosa|serosa of gallbladder|serosa of gall bladder|gall bladder serous membrane|gallbladder serosa|tunica serosa (vesica biliaris)|gallbladder serous membrane|serous membrane of gall bladder|serous membrane of gallbladder|tunica serosa vesicae biliaris http://purl.obolibrary.org/obo/UBERON_0004783 UBERON:0002123 biolink:AnatomicalEntity cortex of thymus The outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes. UMLS:C0229948|EMAPA:35863|MA:0000767|FMA:72205|BTO:0002934|NCIT:C33774 hp.json thymus cortex|thymic cortex http://purl.obolibrary.org/obo/UBERON_0002123 pheno_slim|human_reference_atlas UBERON:0004784 biolink:AnatomicalEntity heart ventricle wall An anatomical wall that is part of a cardiac ventricle [Automatically generated definition]. MA:0002791|FMA:13884|NCIT:C119295 hp.json wall of cardiac ventricle|anatomical wall of heart ventricle|lower chamber of heart anatomical wall|ventricle of heart anatomical wall|wall of heart ventricle|cardiac ventricle anatomical wall|wall of ventricle|wall of lower chamber of heart|wall of ventricle of heart|cardiac ventricle wall|anatomical wall of lower chamber of heart|heart ventricle anatomical wall|anatomical wall of ventricle of heart|ventricle of heart wall|lower chamber of heart wall|anatomical wall of cardiac ventricle|ventricular wall http://purl.obolibrary.org/obo/UBERON_0004784 pheno_slim GO:0044272 biolink:BiologicalProcess sulfur compound biosynthetic process The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. hp.json sulfur compound biosynthesis|sulfur compound anabolism|sulfur biosynthesis|sulfur biosynthetic process|sulfur compound synthesis|sulfur compound formation http://purl.obolibrary.org/obo/GO_0044272 GO:0010938 biolink:BiologicalProcess cytoplasmic microtubule depolymerization The removal of tubulin heterodimers from one or both ends of a cytoplasmic microtubule. hp.json http://purl.obolibrary.org/obo/GO_0010938 GO:0044271 biolink:BiologicalProcess cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. hp.json nitrogen compound biosynthesis|nitrogen compound anabolism|nitrogen compound synthesis|nitrogen compound formation http://purl.obolibrary.org/obo/GO_0044271 UBERON:0002108 biolink:AnatomicalEntity small intestine Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. GAID:313|VHOG:0000055|ZFA:0001323|FMA:7200|TAO:0001323|XAO:0000130|EMAPA:32834|MAT:0000047|EFO:0000841|AAO:0010397|NCIT:C12386|OpenCyc:Mx4rvVjlIJwpEbGdrcN5Y29ycA|MIAA:0000047|BTO:0000651|CALOHA:TS-0942|MESH:D007421|UMLS:C0021852|galen:SmallIntestine|MA:0000337|EV:0100072 hp.json small intestine|mid intestine|anterior intestine|intestinum tenue|small bowel|intestinum tenue http://purl.obolibrary.org/obo/UBERON_0002108 vertebrate_core|major_organ|organ_slim|pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0002107 biolink:AnatomicalEntity liver An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. MESH:D008099|EHDAA2:0000997|BTO:0000759|GAID:288|ZFA:0000123|XAO:0000133|EFO:0000887|TAO:0000123|UMLS:C0023884|FMA:7197|galen:Liver|AAO:0010111|EV:0100089|OpenCyc:Mx4rvVimppwpEbGdrcN5Y29ycA|EHDAA:2197|EMAPA:16846|MAT:0000097|VHOG:0000257|NCIT:C12392|CALOHA:TS-0564|MIAA:0000097|MA:0000358 hp.json jecur|iecur http://purl.obolibrary.org/obo/UBERON_0002107 vertebrate_core|major_organ|organ_slim|pheno_slim|efo_slim|human_reference_atlas|uberon_slim UBERON:0004769 biolink:AnatomicalEntity diaphysis Subdivision of long bone which forms the part of the bone between the two epiphyses, excluding the metaphyses[FMA,modified]. GAID:189|EMAPA:35504|FMA:24013|MESH:D018483 hp.json long bone diaphysis|body of long bone|shaft of long bone http://purl.obolibrary.org/obo/UBERON_0004769 pheno_slim|uberon_slim UBERON:0002109 biolink:AnatomicalEntity pair of nares Pair of nostrils. OpenCyc:Mx4rvViCLpwpEbGdrcN5Y29ycA|FMA:72005 hp.json nostrils|nares set|nares|set of nares|pair of nostrils http://purl.obolibrary.org/obo/UBERON_0002109 uberon_slim GO:0010936 biolink:BiologicalProcess negative regulation of macrophage cytokine production Any process that decreases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. hp.json http://purl.obolibrary.org/obo/GO_0010936 GO:0010937 biolink:BiologicalProcess regulation of cytoplasmic microtubule depolymerization Any process that modulates the frequency, rate or extent of cytoplasmic microtubule depolymerization. hp.json http://purl.obolibrary.org/obo/GO_0010937 GO:0010934 biolink:BiologicalProcess macrophage cytokine production The appearance of a macrophage cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. hp.json http://purl.obolibrary.org/obo/GO_0010934 gocheck_do_not_annotate GO:0010935 biolink:BiologicalProcess regulation of macrophage cytokine production Any process that modulates the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. hp.json http://purl.obolibrary.org/obo/GO_0010935 GO:0044275 biolink:NamedThing cellular carbohydrate catabolic process hp.json http://purl.obolibrary.org/obo/GO_0044275 UBERON:0004770 biolink:AnatomicalEntity articular system Anatomical system that consists of all the joints of the body. FMA:23878|SCTID:361827000|MA:0003007|VSAO:0000181|EMAPA:35150 hp.json set of all joints of body|set of joints of body|joint system|set of all joints http://purl.obolibrary.org/obo/UBERON_0004770 UBERON:0004771 biolink:AnatomicalEntity posterior nasal aperture Opening/conduit between the nasal cavity and the nasopharynx[AAO] The choanae are separated by the vomer[WP]. EHDAA:7842|EMAPA:17849|EHDAA2:0000242|VHOG:0000545|FMA:53143|AAO:0000093|XAO:0000277|MA:0001323 hp.json nasopharyngeal naris|choana|posterior nasal apperture|internal naris|posterior naris|posterior choana|choanae http://purl.obolibrary.org/obo/UBERON_0004771 pheno_slim GO:0140053 biolink:BiologicalProcess mitochondrial gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. hp.json http://purl.obolibrary.org/obo/GO_0140053 goslim_generic|goslim_pombe GO:0140056 biolink:BiologicalProcess organelle localization by membrane tethering The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other. hp.json http://purl.obolibrary.org/obo/GO_0140056 goslim_pombe UBERON:0002115 biolink:AnatomicalEntity jejunum The portion of the small intestine that extends from the duodenum to the ileum. OpenCyc:Mx4rwATkPJwpEbGdrcN5Y29ycA|BTO:0000657|MA:0000340|NCIT:C12388|MAT:0000045|EFO:0001333|GAID:318|EV:0100074|MIAA:0000045|FMA:7207|UMLS:C0022378|galen:Jejunum|MESH:D007583|CALOHA:TS-0496|EMAPA:18666|VHOG:0000053 hp.json intestinum jejunum|mid-intestine|middle intestine http://purl.obolibrary.org/obo/UBERON_0002115 pheno_slim|efo_slim|human_reference_atlas|uberon_slim UBERON:0004778 biolink:AnatomicalEntity larynx submucosa A submucosa that is part of a larynx [Automatically generated definition]. MA:0002728|SCTID:361941005|FMA:321584|EMAPA:35474 hp.json laryngeal submucosa|submucosa of larynx http://purl.obolibrary.org/obo/UBERON_0004778 UBERON:0002114 biolink:AnatomicalEntity duodenum The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). AAO:0010402|OpenCyc:Mx4rv4LJDpwpEbGdrcN5Y29ycA|GAID:284|EFO:0000851|MAT:0000044|galen:Duodenum|BTO:0000365|NCIT:C12263|MESH:D004386|CALOHA:TS-0214|MIAA:0000044|EV:0100073|MA:0000338|UMLS:C0013303|XAO:0000236|FMA:7206|EMAPA:18852|VHOG:0000052 hp.json proximal intestine|upper intestine http://purl.obolibrary.org/obo/UBERON_0002114 pheno_slim|human_reference_atlas|efo_slim|uberon_slim|vertebrate_core UBERON:0004779 biolink:AnatomicalEntity respiratory system lamina propria A lamina propria that is part of a respiratory system [Automatically generated definition]. EMAPA:37576|MA:0001821 hp.json respiratory system lamina propria mucosa|lamina propria mucosa of apparatus respiratorius|lamina propria of respiratory system|lamina propria of apparatus respiratorius|lamina propria mucosa of respiratory system|apparatus respiratorius lamina propria mucosa|apparatus respiratorius lamina propria http://purl.obolibrary.org/obo/UBERON_0004779 UBERON:0002116 biolink:AnatomicalEntity ileum The portion of the small intestine that extends from the jejunum to the colon. AAO:0010403|CALOHA:TS-0472|galen:Ileum|OpenCyc:Mx4rvdcLHZwpEbGdrcN5Y29ycA|MESH:D007082|VHOG:0000647|UMLS:C0020885|NCIT:C12387|BTO:0000620|EFO:0001334|EMAPA:32764|EV:0100075|FMA:7208|MA:0000339|XAO:0000237|MAT:0000282|GAID:315|MIAA:0000282 hp.json intestinum ileum|posterior intestine|distal intestine|lower intestine http://purl.obolibrary.org/obo/UBERON_0002116 pheno_slim|human_reference_atlas|efo_slim|uberon_slim GO:0071874 biolink:BiologicalProcess cellular response to norepinephrine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a norepinephrine stimulus. Norepinephrine is a catecholamine that has the formula C8H11NO3; it acts as a hormone, and as a neurotransmitter in most of the sympathetic nervous system. hp.json cellular response to noradrenaline stimulus http://purl.obolibrary.org/obo/GO_0071874 UBERON:0004777 biolink:AnatomicalEntity respiratory system submucosa A submucosa that is part of a respiratory system [Automatically generated definition]. EMAPA:37578|MA:0001822 hp.json submucosa of apparatus respiratorius|submucosa of respiratory system|apparatus respiratorius submucosa http://purl.obolibrary.org/obo/UBERON_0004777 UBERON:0002111 biolink:AnatomicalEntity artery smooth muscle tissue A portion of smooth muscle tissue that is part of an artery [Automatically generated definition]. MA:0000708|FMA:72024|BTO:0000087|NCIT:C49195|CALOHA:TS-1198|UMLS:C1706851|EMAPA:36285 hp.json artery smooth muscle|artery smooth muscle tissue|arterial smooth muscle|arterial smooth muscle cell|smooth muscle of artery http://purl.obolibrary.org/obo/UBERON_0002111 GO:0071873 biolink:BiologicalProcess response to norepinephrine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a norepinephrine stimulus. Norepinephrine is a catecholamine that has the formula C8H11NO3; it acts as a hormone, and as a neurotransmitter in most of the sympathetic nervous system. hp.json response to noradrenaline stimulus|response to norepinephrine stimulus http://purl.obolibrary.org/obo/GO_0071873 UBERON:0004774 biolink:AnatomicalEntity inferior eyelid tarsus An eyelid tarsus that is part of a lower eyelid [Automatically generated definition]. EMAPA:37606|MA:0001257|FMA:59088 hp.json tarsus of lower eyelid|inferior tarsal plate|inferior tarsus|tarsal plate of lower eyelid|tarsus inferior|inferior tarsus of eyelid http://purl.obolibrary.org/obo/UBERON_0004774 UBERON:0002110 biolink:AnatomicalEntity gall bladder An organ that aids digestion and stores bile produced by the liver[WP]. EFO:0000853|AAO:0010114|NCIT:C12377|UMLS:C0016976|ZFA:0000208|TAO:0000208|MAT:0000072|VHOG:0000221|BTO:0000493|OpenCyc:Mx4rvVkGr5wpEbGdrcN5Y29ycA|XAO:0000135|EMAPA:17202|MA:0000356|MIAA:0000072|EHDAA2:0000699|FMA:7202|EV:0100090|MESH:D005704|EHDAA:8062|CALOHA:TS-0394|galen:Gallbladder hp.json vesica fellea|gallbladder|gall bladder|vesica biliaris http://purl.obolibrary.org/obo/UBERON_0002110 organ_slim|pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0002113 biolink:AnatomicalEntity kidney A paired organ of the urinary tract which has the production of urine as its primary function. XAO:0003267|MIAA:0000119|galen:Kidney|OpenCyc:Mx4rvVjlYpwpEbGdrcN5Y29ycA|EMAPA:17373|MESH:D007668|EFO:0000929|EV:0100096|BTO:0000671|AAO:0000250|CALOHA:TS-0510|UMLS:C0022646|GAID:423|MAT:0000119|MA:0000368|NCIT:C12415|FMA:7203 hp.json reniculate kidney http://purl.obolibrary.org/obo/UBERON_0002113 organ_slim|pheno_slim|efo_slim|human_reference_atlas|uberon_slim|major_organ|vertebrate_core UBERON:0004772 biolink:AnatomicalEntity eyelid tarsus The tarsi (tarsal plates) are two comparatively thick, elongated plates of dense connective tissue, about 2.5 cm. in length; one is found in each eyelid, and contributes to its form and support. They directly abut the lid margins. MA:0000270|NCIT:C33736|UMLS:C0459586|FMA:59086 hp.json tarsal plate|tarsal plate of eyelid|eyelid tarsi|tarsus palpebralis|tarsi http://purl.obolibrary.org/obo/UBERON_0004772 organ_slim UBERON:0002112 biolink:AnatomicalEntity smooth muscle of esophagus A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition]. MA:0001573|FMA:72025|EMAPA:35323 hp.json involuntary muscle of gullet|oesophagus smooth muscle|smooth muscle of oesophagus|smooth muscle of gullet|esophagus involuntary muscle|smooth muscle tissue of oesophagus|gullet involuntary muscle|oesophagus involuntary muscle|smooth muscle tissue of gullet|gullet smooth muscle tissue|esophagus smooth muscle tissue|oesophagus non-striated muscle|gullet non-striated muscle|esophagus non-striated muscle|oesophagus smooth muscle tissue|esophageal smooth muscle|smooth muscle tissue of esophagus|gullet smooth muscle|esophagus smooth muscle|non-striated muscle of oesophagus|involuntary muscle of esophagus|non-striated muscle of gullet|non-striated muscle of esophagus|involuntary muscle of oesophagus http://purl.obolibrary.org/obo/UBERON_0002112 pheno_slim GO:0071870 biolink:BiologicalProcess cellular response to catecholamine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a catecholamine stimulus. A catecholamine is any of a group of biogenic amines that includes 4-(2-aminoethyl)pyrocatechol [4-(2-aminoethyl)benzene-1,2-diol] and derivatives formed by substitution. hp.json http://purl.obolibrary.org/obo/GO_0071870 UBERON:0004773 biolink:AnatomicalEntity superior eyelid tarsus An eyelid tarsus that is part of a upper eyelid [Automatically generated definition]. MA:0001260|EMAPA:37607|FMA:59087 hp.json superior tarsus of eyelid|tarsus of upper eyelid|superior tarsal plate|tarsal plate of upper eyelid|superior tarsus|tarsus superior http://purl.obolibrary.org/obo/UBERON_0004773 GO:0010907 biolink:BiologicalProcess positive regulation of glucose metabolic process Any process that increases the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. hp.json positive regulation of glucose metabolism http://purl.obolibrary.org/obo/GO_0010907 GO:0044283 biolink:BiologicalProcess small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. hp.json small molecule biosynthesis http://purl.obolibrary.org/obo/GO_0044283 prokaryote_subset GO:0044281 biolink:BiologicalProcess small molecule metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. hp.json small molecule metabolism http://purl.obolibrary.org/obo/GO_0044281 goslim_flybase_ribbon|goslim_metagenomics|goslim_chembl GO:0010906 biolink:BiologicalProcess regulation of glucose metabolic process Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. hp.json regulation of glucose metabolism http://purl.obolibrary.org/obo/GO_0010906 GO:0044282 biolink:BiologicalProcess small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. hp.json small molecule catabolism http://purl.obolibrary.org/obo/GO_0044282 CHEBI:35516 biolink:ChemicalSubstance cholestane CAS:14982-53-7|Beilstein:5334741|LIPID_MAPS_instance:LMST01010000|CAS:14982-53-7|Wikipedia:Cholestane hp.json cholestane http://purl.obolibrary.org/obo/CHEBI_35516 3_STAR CHEBI:35519 biolink:ChemicalSubstance cholane hp.json cholane http://purl.obolibrary.org/obo/CHEBI_35519 3_STAR UBERON:0004760 biolink:AnatomicalEntity gland of anal canal A gland that is part of an anal canal [Automatically generated definition]. NCIT:C32068|SCTID:245448005|FMA:15724|FMA:15720|EMAPA:27543|UMLS:C0162322|Wikipedia:Anal_gland|EMAPA:27233|EMAPA:27221 hp.json rectal gland|anal sac|anal gland|gland of anus|anal sac|gland of anal canal http://purl.obolibrary.org/obo/UBERON_0004760 organ_slim|human_reference_atlas UBERON:0002104 biolink:AnatomicalEntity visual system The sensory system subserving the sense of vision. http://uri.neuinfo.org/nif/nifstd/FMAID_7191|NCIT:C12888|TAO:0001127|MA:0002444|SCTID:281831001|Wikipedia:Visual_system|AAO:0000632|XAO:0003198|OpenCyc:Mx4rvViCtpwpEbGdrcN5Y29ycA|UMLS:C0587900|FMA:7191|EMAPA:36003|ZFA:0001127|BILA:0000140 hp.json visual organ system|photosensory system http://purl.obolibrary.org/obo/UBERON_0002104 vertebrate_core|pheno_slim|uberon_slim UBERON:0004767 biolink:AnatomicalEntity vomerine tooth A tooth that is on the vomer. AAO:0000635|TAO:0001631 hp.json http://purl.obolibrary.org/obo/UBERON_0004767 UBERON:0002103 biolink:AnatomicalEntity hindlimb A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts. MA:0000026|EHDAA:6094|VSAO:0000150|UMLS:C0023216|NCIT:C12742|EV:0100015|MESH:D006614|UMLS:C1522391|GAID:38|FMA:24879|VHOG:0000337|XAO:0003031|EFO:0000883|EHDAA2:0001033|BTO:0002345|GAID:1221|MAT:0000395|galen:LowerExtremity|CALOHA:TS-2215|MIAA:0000395|EMAPA:17458|NCIT:C77625|AAO:0000219 hp.json membrum inferius|hind-limb|inferior member|hind limb|pelvic appendage|hindlimb|free part of lower limb|membrum inferius|free lower limb|lower extremity|lower limb http://purl.obolibrary.org/obo/UBERON_0002103 pheno_slim|efo_slim|uberon_slim UBERON:0004768 biolink:AnatomicalEntity bone of lower jaw Any bone that is part of the lower jaw skeleton. This includes (when present): the dentary/mandible, the articular, the splenial, the suprangular. hp.json lower jaw bone http://purl.obolibrary.org/obo/UBERON_0004768 grouping_class UBERON:0002106 biolink:AnatomicalEntity spleen The organ that functions to filter blood and to store red corpuscles and platelets. EFO:0000869|MIAA:0000085|TAO:0000436|VHOG:0000120|galen:Spleen|OpenCyc:Mx4rvVjgw5wpEbGdrcN5Y29ycA|BTO:0001281|NCIT:C12432|CALOHA:TS-0956|MA:0000141|GAID:1289|FMA:7196|EV:0100055|MESH:D013154|XAO:0000328|AAO:0010395|UMLS:C0037993|MAT:0000085|ZFA:0000436|EMAPA:18767 hp.json lien http://purl.obolibrary.org/obo/UBERON_0002106 vertebrate_core|organ_slim|pheno_slim|human_reference_atlas|efo_slim|uberon_slim UBERON:0004765 biolink:AnatomicalEntity skeletal element Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. AAO:0011129|galen:SkeletalStructure|XAO:0004012|VSAO:0000128|TAO:0001890|ZFA:0005494 hp.json http://purl.obolibrary.org/obo/UBERON_0004765 organ_slim|uberon_slim UBERON:0002105 biolink:AnatomicalEntity vestibulo-auditory system Sensory system responsible for the perception of spatial orientation and auditory stimuli. EMAPA:36002|TAO:0001138|EMAPA:37985|AAO:0000631|XAO:0003195|FMA:78500|ZFA:0001138 hp.json vestibuloauditory system|auditory system|vestibuloauditory system|auditory/vestibular system|auditory organ system http://purl.obolibrary.org/obo/UBERON_0002105 vertebrate_core|functional_classification|pheno_slim|uberon_slim GO:0009913 biolink:BiologicalProcess epidermal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis. hp.json hypodermal cell differentiation http://purl.obolibrary.org/obo/GO_0009913 UBERON:0004766 biolink:AnatomicalEntity cranial bone A bone that is part of a cranium. SCTID:181792001 hp.json cranium bone http://purl.obolibrary.org/obo/UBERON_0004766 UBERON:0002100 biolink:AnatomicalEntity trunk Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. EMAPA:31857|TAO:0001115|XAO:0003025|XAO:0000054|BILA:0000116|CALOHA:TS-1071|OpenCyc:Mx4rvVkJjpwpEbGdrcN5Y29ycA|MAT:0000296|galen:Trunk|NCIT:C33816|FMA:7181|SCTID:262225004|MIAA:0000296|BTO:0001493|Wikipedia:Torso|ZFA:0001115|UMLS:C0460005|AAO:0010339|MA:0000004|EFO:0000966 hp.json Rumpf|trunk region|torso|thoracolumbar region http://purl.obolibrary.org/obo/UBERON_0002100 pheno_slim|efo_slim|uberon_slim|vertebrate_core GO:0009914 biolink:BiologicalProcess hormone transport The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hp.json http://purl.obolibrary.org/obo/GO_0009914 goslim_pir UBERON:0004763 biolink:AnatomicalEntity endochondral bone tissue Replacement bone tissue that forms within cartilage[VSAO, modified]. EMAPA:35304|MA:0002836 hp.json http://purl.obolibrary.org/obo/UBERON_0004763 uberon_slim|vertebrate_core UBERON:0004764 biolink:AnatomicalEntity intramembranous bone tissue Bone tissue that forms directly within mesenchyme, and does not replace other tissues[TAO]. Intramembranous ossification is the formation of bone in which osteoblasts secrete a collagen-proteoglycan matrix that binds calcium salts and becomes calcified[GO]. Intramembranous ossification is the way flat bones and the shell of a turtle are formed[GO]. Unlike endochondral ossification, cartilage is not present during intramembranous ossification[WP]. Wikipedia:Intramembranous_ossification|MA:0002837 hp.json http://purl.obolibrary.org/obo/UBERON_0004764 UBERON:0002102 biolink:AnatomicalEntity forelimb A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts. EHDAA:6208|MA:0000025|AAO:0000205|GAID:1215|EV:0100014|VHOG:0000338|FMA:24878|EFO:0000882|EHDAA2:0002133|VSAO:0000148|XAO:0003030|NCIT:C12671|UMLS:C1140618|MESH:D005552|MAT:0000394|galen:UpperExtremity|CALOHA:TS-2214|GAID:51|BTO:0001729|MIAA:0000394|EMAPA:17412 hp.json forelimb|pectoral limb|foreleg|free part of upper limb|pectoral flipper|superior member|anteriormost limb|upper extremity|fore limb|free upper limb|membrum superius|upper limb http://purl.obolibrary.org/obo/UBERON_0002102 pheno_slim|efo_slim|uberon_slim UBERON:0004761 biolink:AnatomicalEntity cartilaginous neurocranium The primitive cartilagionous skeletal structure of the fetal skull that grows to envelop the rapidly growing embyonic brain. In humans, the chondrocranium begins forming at 28 days from mesenchymal condensations and is fully formed between week 7 and 9 of fetal development. While the majority of the chondrocranium is succeeded by the bony skull in most higher vertebrates, some components do persist into adulthood.[1] In Cartilagious fishes and Agnathans, the chondrocranium persist throughout life.[2] Embryologically, the chondrocranium represent the basal cranial structure, and lay the base for the formation of the endocranium in higher vertebrates[WP]. Wikipedia:Chondrocranium|NCIT:C34121|FMA:76621|UMLS:C1516496|AAO:0010153|EHDAA:6031|AAO:0000094|SCTID:155540009|XAO:0003059 hp.json embryonic chondocranium|chondocranium|cartilaginous skull|cartilaginous chondocranium|neurocranium|cartiligionous skeletal structure of skull|chondocranium http://purl.obolibrary.org/obo/UBERON_0004761 UBERON:0002101 biolink:AnatomicalEntity limb A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. AEO:0000172|MAT:0000090|AAO:0010336|EHDAA:1697|EFO:0000876|MIAA:0000090|GAID:36|galen:Extremity|VHOG:0000336|OpenCyc:Mx4rvn1uSZwpEbGdrcN5Y29ycA|FMA:24875|EMAPA:16405|NCIT:C12429|MA:0000007|VSAO:0000121|CALOHA:TS-0552|EHDAA2:0003172|EHDAA:8273|UMLS:C0015385|XAO:0003027 hp.json pentadactyl limb|flipper|extremities|free limb|extremity|limb sensu Vertebrata|tetrapod limb http://purl.obolibrary.org/obo/UBERON_0002101 pheno_slim|efo_slim|uberon_slim GO:0010911 biolink:BiologicalProcess regulation of isomerase activity Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. hp.json http://purl.obolibrary.org/obo/GO_0010911 GO:0010912 biolink:BiologicalProcess positive regulation of isomerase activity Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. hp.json http://purl.obolibrary.org/obo/GO_0010912 GO:0044297 biolink:CellularComponent cell body The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. Wikipedia:Cell_body|FMA:67301|FBbt:00005107 hp.json cell soma http://purl.obolibrary.org/obo/GO_0044297 CHEBI:35522 biolink:ChemicalSubstance beta-adrenergic agonist An agent that selectively binds to and activates beta-adrenergic receptors. hp.json beta-adrenergic receptor agonist|beta-adrenergic agonists|beta-adrenoceptor agonists http://purl.obolibrary.org/obo/CHEBI_35522 3_STAR CHEBI:35524 biolink:ChemicalSubstance sympathomimetic agent A drug that mimics the effects of stimulating postganglionic adrenergic sympathetic nerves. Included in this class are drugs that directly stimulate adrenergic receptors and drugs that act indirectly by provoking the release of adrenergic transmitters. hp.json sympathomimetic|sympathomimetics http://purl.obolibrary.org/obo/CHEBI_35524 3_STAR CHEBI:35526 biolink:ChemicalSubstance hypoglycemic agent A drug which lowers the blood glucose level. hp.json antihyperglycemic|antihyperglycemics|antihyperglycemic drug|hypoglycemic drugs|antihyperglycemic agents|antidiabetic|antihyperglycemic agent|hypoglycemic drug|antihyperglycemic drugs|hypoglycemic agents http://purl.obolibrary.org/obo/CHEBI_35526 3_STAR UBERON:0004756 biolink:AnatomicalEntity dermal skeletal element Dermis-derived entity that is made of skeletal tissue. hp.json dermal element http://purl.obolibrary.org/obo/UBERON_0004756 UBERON:0004755 biolink:AnatomicalEntity skeletal tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]. XAO:0004038|EMAPA:37744|MA:0003047|VSAO:0000015|SCTID:309311006|ZFA:0005619 hp.json http://purl.obolibrary.org/obo/UBERON_0004755 UBERON:0004753 biolink:AnatomicalEntity scapulocoracoid Skeletal element that consists of the scapula and the coracoid[VSAO, modified]. VSAO:0005002|ZFA:0001455|TAO:0001455|AAO:0000781 hp.json scapulo-coracoid cartilage|scapulocoracoideum|scapulocoracoid cartilage|coraco-scapular cartilage http://purl.obolibrary.org/obo/UBERON_0004753 GO:0140029 biolink:BiologicalProcess exocytic process The cellular processes that contribute to exocytosis. hp.json http://purl.obolibrary.org/obo/GO_0140029 gocheck_do_not_annotate UBERON:0002169 biolink:AnatomicalEntity alveolar sac The small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters. MA:0000418|FMA:7317|UMLS:C0225691|OpenCyc:Mx4rwCvh75wpEbGdrcN5Y29ycA|BTO:0000061|NCIT:C32057|EMAPA:35119 hp.json pulmonary alveolar sac|sacculus alveolaris|air sac http://purl.obolibrary.org/obo/UBERON_0002169 uberon_slim|pheno_slim UBERON:0002166 biolink:AnatomicalEntity endocardium of atrium Endocardium that is part of the atrium. ZFA:0001614|SCTID:192001005|VHOG:0000606|MA:0000077|TAO:0002169|EMAPA:32745|FMA:7284 hp.json cardiac atrium endocardium|atrium endocardial tissue|endocardium of heart atrium|atrial endocardium|Cardiac atria endocardium|atrium endocardium|endocardium of cardiac atrium|endocardium of Cardiac atria|heart atrium endocardium|atrium of heart endocardium|endocardium of atrium of heart http://purl.obolibrary.org/obo/UBERON_0002166 vertebrate_core|pheno_slim UBERON:0002165 biolink:AnatomicalEntity endocardium The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. FMA:7280|AAO:0010408|EHDAA2:0004153|OpenCyc:Mx4rsWA75K1cEduAAADggVaqvw|UMLS:C0014124|galen:Endocardium|XAO:0000066|VHOG:0000084|EFO:0000821|ZFA:0001320|GAID:550|MAT:0000455|CALOHA:TS-2075|Wikipedia:Endocardium|MESH:D004699|NCIT:C13004|MA:0000076|TAO:0001320|SCTID:362013006|EMAPA:32686|EV:0100021|BTO:0000387|EMAPA:17868 hp.json heart endocardium|endocardial tissue|heart endocardial tissue|endocardial lining http://purl.obolibrary.org/obo/UBERON_0002165 uberon_slim|vertebrate_core|pheno_slim|efo_slim UBERON:0002168 biolink:AnatomicalEntity left lung Lung which consists of the left upper lobe and left lower lobe.[FMA]. NCIT:C32967|UMLS:C0225730|MA:0000425|EHDAA:4947|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rvVjKy5wpEbGdrcN5Y29ycA|EHDAA2:0000943|EMAPA:17653|VHOG:0000618|FMA:7310|Wikipedia:Left_lung|SCTID:361982005 hp.json http://purl.obolibrary.org/obo/UBERON_0002168 human_reference_atlas|uberon_slim|pheno_slim UBERON:0002167 biolink:AnatomicalEntity right lung Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA]. VHOG:0000301|MA:0000426|EHDAA:4969|EMAPA:17661|EHDAA2:0001730|SCTID:361967000|Wikipedia:Right_lung|UMLS:C0225706|NCIT:C33483|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvVjKy5wpEbGdrcN5Y29ycA|FMA:7309 hp.json http://purl.obolibrary.org/obo/UBERON_0002167 uberon_slim|pheno_slim|human_reference_atlas CHEBI:35508 biolink:ChemicalSubstance steroid fundamental parent hp.json steroid fundamental parents http://purl.obolibrary.org/obo/CHEBI_35508 3_STAR CHEBI:35507 biolink:ChemicalSubstance natural product fundamental parent hp.json natural product fundamental parents http://purl.obolibrary.org/obo/CHEBI_35507 3_STAR CHEBI:35509 biolink:ChemicalSubstance androstane CAS:24887-75-0|LIPID_MAPS_instance:LMST02020000|Beilstein:5247532 hp.json androstane http://purl.obolibrary.org/obo/CHEBI_35509 3_STAR UBERON:0002150 biolink:AnatomicalEntity superior cerebellar peduncle A composite structure of the brain stem, which in NeuroNames is subdivided into the superior cerebellar peduncle of pons, the decussation of superior cerebellar peduncle and the superior cerebellar peduncle of midbrain (MM). UMLS:C0152391|MA:0002746|BAMS:5|BM:BC|BAMS:scp|HBA:9297|DHBA:12354|MBA:326|DMBA:17793|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1736|BIRNLEX:1711 hp.json superior cerebelar peduncles|superior cerebellar peduncle (brachium conjunctivum)|pedunculus cerebellaris cranialis|superior peduncle|scp|superior cerebellar peduncle (Galen, Stilling)|brachium conjunctivum|pedunculus cerebellaris rostralis|tractus cerebello-rubralis|crus cerebello-cerebrale|superior cerebellar peduncle (brachium conjuctivum)|tractus cerebello-tegmentalis mesencephali|pedunculus cerebellaris superior http://purl.obolibrary.org/obo/UBERON_0002150 uberon_slim|pheno_slim|human_reference_atlas UBERON:0002152 biolink:AnatomicalEntity middle cerebellar peduncle Regional part of medullary white matter (according to Neuronames) primarily found at the level of the pons, consisting of a very large bundle of fibers originating in the pontine nuclei projecting to the cerebellum (MM). MESH:D065837|BAMS:BP|BAMS:bp|DHBA:12768|MA:0002745|NIFSTD_RETIRED:birnlex_1699|MBA:78|FMA:72515|UMLS:C0152392|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=620|BIRNLEX:1529|BM:Pons-BP|HBA:9294|BAMS:mcp hp.json crus ponto-cerebellare|brachium pontis (stem of middle cerebellar peduncle)|pedunculus cerebellaris pontinus|pedunculus cerebellaris medialis|pedunculus cerebellaris medius|brachium pontis|mid-cerebellar peduncle|crus cerebelli ad pontem http://purl.obolibrary.org/obo/UBERON_0002152 uberon_slim|pheno_slim|human_reference_atlas GO:0140014 biolink:BiologicalProcess mitotic nuclear division A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. hp.json mitosis http://purl.obolibrary.org/obo/GO_0140014 goslim_generic|goslim_chembl GO:0140013 biolink:BiologicalProcess meiotic nuclear division One of the two nuclear divisions that occur as part of the meiotic cell cycle. hp.json meiosis http://purl.obolibrary.org/obo/GO_0140013 goslim_generic UBERON:0002148 biolink:AnatomicalEntity locus ceruleus The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID]. DHBA:12819|MBA:147|ZFA:0000539|EMAPA:35502|MESH:D008125|TAO:0000539|BAMS:CAE|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=583|BM:Pons-LC|Wikipedia:Locus_ceruleus|BIRNLEX:905|GAID:577|HBA:9148|MA:0001017|BTO:0001408|UMLS:C0023951|DMBA:16972|UMLS:C0023951|NCIT:C97333|BAMS:LC|SCTID:369016004|FMA:72478|EFO:0001963 hp.json locus coeruleus (Vicq d'Azyr)|substantia ferruginea|nucleus of locus caeruleus|caerulean nucleus|locus coeruleu|nucleus caeruleus|locus coeruleus|locus caeruleus|nucleus pigmentosus pontis|locus cinereus|blue nucleus|loci coeruleus|nucleus loci caerulei http://purl.obolibrary.org/obo/UBERON_0002148 pheno_slim|efo_slim|uberon_slim|vertebrate_core UBERON:0002149 biolink:AnatomicalEntity superior salivatory nucleus Nucleus containing parasympathetic neurons giving rise to the parasympathetic division of the facial nerve, innervating the salivary glands (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 703). BAMS:SSN|Wikipedia:Superior_salivatory_nucleus|HBA:9194|UMLS:C0175447|FMA:72482|MBA:462|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=590|MA:0001027|DHBA:12435|BAMS:SuS|BIRNLEX:1131|SCTID:369028007|EHDAA2:0004646|EMAPA:37756 hp.json nucleus salivatorius superior|nucleus salivatorius rostralis|nucleus salivarius superior|superior salivary nucleus|nucleus salivatorius cranialis http://purl.obolibrary.org/obo/UBERON_0002149 uberon_slim UBERON:0002146 biolink:AnatomicalEntity pulmonary valve The semilunar valve of the heart that lies between the right ventricle and the pulmonary artery. UMLS:C0034086|GAID:566|OpenCyc:Mx4rwP6uq5wpEbGdrcN5Y29ycA|FMA:7246|EMAPA:17872|galen:PulmonaryValve|NCIT:C12775|EHDAA2:0001577|VHOG:0000814|MESH:D011664|MA:0000089|EHDAA:4412 hp.json valva trunci pulmonalis|pulmonic valve http://purl.obolibrary.org/obo/UBERON_0002146 pheno_slim|human_reference_atlas|uberon_slim UBERON:0002129 biolink:AnatomicalEntity cerebellar cortex The superficial gray matter of the cerebellum. It consists of three main layers, the molecular layer, the Purkinje cell layer and the granule cell layer. GAID:596|MBA:528|MESH:D002525|CALOHA:TS-2000|UMLS:C0007759|FMA:72248|MA:0000199|BM:CB-Cbx|UMLS:C0007759|UMLS:C1284087|BAMS:CbCx|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=647|NCIT:C49216|DMBA:16939|BAMS:CB|BAMS:CBX|EV:0100294|HBA:4697|VHOG:0001597|DHBA:10657|BTO:0000043|BIRNLEX:1566|EMAPA:35211 hp.json cortex cerebellaris|cortex of cerebellar hemisphere|cortex cerebelli http://purl.obolibrary.org/obo/UBERON_0002129 pheno_slim|human_reference_atlas|uberon_slim UBERON:0004792 biolink:AnatomicalEntity secretion of endocrine pancreas A secretion that is part of a endocrine pancreas [Automatically generated definition]. UMLS:C1518866|MA:0002517|NCIT:C33255 hp.json endocrine pancreas secretion|pars endocrina pancreatis secretion|pancreatic endocrine secretion|secretion of pars endocrina pancreatis http://purl.obolibrary.org/obo/UBERON_0004792 UBERON:0004793 biolink:AnatomicalEntity secretion of exocrine pancreas A secretion that is part of a exocrine pancreas [Automatically generated definition]. MA:0002518|UMLS:C1518867|NCIT:C33256 hp.json pancreatic exocrine secretion|pars exocrina pancreatis secretion|exocrine pancreas secretion|secretion of pars exocrina pancreatis http://purl.obolibrary.org/obo/UBERON_0004793 UBERON:0004790 biolink:AnatomicalEntity skin mucous gland A mucous gland that is part of the skin. EMAPA:35775|MA:0000148 hp.json mucous gland of skin of body|mucous gland of entire skin|skin of body mucous gland|skin mucus gland http://purl.obolibrary.org/obo/UBERON_0004790 organ_slim UBERON:0002130 biolink:AnatomicalEntity cerebellar nuclear complex The gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei[MP]. BAMS:DNC|BIRNLEX:1568|UMLS:C0007763|MESH:D002529|GAID:599|MBA:519|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=682|BAMS:DCb|HBA:4780|FMA:72249|BAMS:CBN|BAMS:CBn|DHBA:10660|EV:0100299 hp.json intrinsic nuclei of cerebellum|deep cerebellar nuclei|nuclei cerebelli|roof nuclei-2|deep cerebellar nuclear complex|nuclei cerebelli|central nuclei|nuclei cerebellares|intracerebellar nuclei|cerebellar nuclei|nuclei cerebellaris http://purl.obolibrary.org/obo/UBERON_0002130 uberon_slim UBERON:0004791 biolink:AnatomicalEntity thymus trabecula The thymic connective tissue which extends into the parenchyma. UMLS:C1515431|MA:0002674|NCIT:C33773 hp.json thymus gland trabecula|thymic trabecula|trabecula of thymus gland|trabecula of thymus|thymus trabeculae http://purl.obolibrary.org/obo/UBERON_0004791 human_reference_atlas|pheno_slim UBERON:0002137 biolink:AnatomicalEntity aortic valve Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA]. MA:0000087|EHDAA2:0000134|EHDAA:4410|galen:AorticValve|NCIT:C12670|MESH:D001021|OpenCyc:Mx4rv5914JwpEbGdrcN5Y29ycA|FMA:7236|GAID:563|UMLS:C0003501|VHOG:0000815|BTO:0004628|EFO:0003879|EMAPA:17870 hp.json valva aortae http://purl.obolibrary.org/obo/UBERON_0002137 pheno_slim|efo_slim|human_reference_atlas|uberon_slim CHEBI:23505 biolink:ChemicalSubstance cystathionines hp.json http://purl.obolibrary.org/obo/CHEBI_23505 1_STAR UBERON:0002133 biolink:AnatomicalEntity atrioventricular valve A cardial valve in the atrioventricular region that separates the atrium from the ventricle and prevent backflow from the ventricles into the atria during systole. galen:AtrioventricularValve|EHDAA2:0000153|OpenCyc:Mx4rfCfdorrpEduAAAACs6hRXg|EHDAA:7421|ZFA:0005064|TAO:0005064|MA:0002789|EMAPA:35154|VHOG:0001472|FMA:7233 hp.json atrio-ventricular valve|AV valve http://purl.obolibrary.org/obo/UBERON_0002133 pheno_slim|vertebrate_core UBERON:0004796 biolink:AnatomicalEntity prostate gland secretion A bodily secretion that is produced by the prostate gland. FMA:66884|EMAPA:36545|MA:0002525|NCIT:C52553|UMLS:C1709733 hp.json prostate fluid|secretion of prostate gland|secretion of prostate|prostatic fluid|prostate secretion http://purl.obolibrary.org/obo/UBERON_0004796 UBERON:0002132 biolink:AnatomicalEntity dentate nucleus The largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers. HBA:12946|VHOG:0001700|BAMS:Dt|UMLS:C0086120|MA:0001008|FMA:72260|BAMS:DN|BM:CB-CBL|MBA:846|BTO:0003836|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=683|EV:0100300|BIRNLEX:1171 hp.json lateral cerebellar nucleus|dentate nucleus (Vicq d'Azyr)|dentate nucleus|lateral nucleus of cerebellum|nucleus dentatus cerebelli|nucleus lateralis cerebelli|nucleus dentatus|dentate cerebellar nucleus|dentatothalamocortical fibers|nucleus dentatus http://purl.obolibrary.org/obo/UBERON_0002132 pheno_slim|uberon_slim UBERON:0004797 biolink:AnatomicalEntity blood vessel layer Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. MA:0002854|EMAPA:36296 hp.json http://purl.obolibrary.org/obo/UBERON_0004797 UBERON:0004794 biolink:AnatomicalEntity esophagus secretion A secretion that is part of a esophagus [Automatically generated definition]. UMLS:C0227179|MA:0002514|FMA:79662|NCIT:C52555 hp.json oesophagus secretion|gullet secretion|secretion of oesophagus|secretion of gullet|secretion of esophagus|esophageal secretion http://purl.obolibrary.org/obo/UBERON_0004794 UBERON:0002135 biolink:AnatomicalEntity mitral valve An atrioventricular valve that is part of the outflow part of the left atrium. MESH:D008943|OpenCyc:Mx4rv4l2nJwpEbGdrcN5Y29ycA|GAID:565|VHOG:0000817|FMA:7235|galen:MitralValve|EMAPA:17871|UMLS:C0026264|NCIT:C12753|EFO:0003933|MA:0000088|EHDAA2:0000168 hp.json valva mitralis|valva atrioventricularis sinistra|left atrioventricular valve|bicuspid valve http://purl.obolibrary.org/obo/UBERON_0002135 pheno_slim|efo_slim|human_reference_atlas|uberon_slim UBERON:0004795 biolink:AnatomicalEntity pancreas secretion A secretion that is part of a pancreas [Automatically generated definition]. MA:0002516|NCIT:C13270|UMLS:C0030296 hp.json pancreatic secretion|secretion of pancreas http://purl.obolibrary.org/obo/UBERON_0004795 CHEBI:23509 biolink:ChemicalSubstance cysteine derivative An amino acid derivative resulting from reaction of cysteine at the amino group, carboxy group, or thiol group, or from the replacement of any hydrogen of cysteine by a heteroatom. The definition normally excludes peptides containing cysteine residues. hp.json cysteine derivatives|cysteine derivative http://purl.obolibrary.org/obo/CHEBI_23509 3_STAR UBERON:0002134 biolink:AnatomicalEntity tricuspid valve An atrioventricular valve that is part of the outflow part of the right atrium. OpenCyc:Mx4rvuWAAJwpEbGdrcN5Y29ycA|RETIRED_EHDAA2:0002081|NCIT:C12805|MESH:D014261|MA:0000090|GAID:567|EMAPA:17873|UMLS:C0040960|VHOG:0000816|FMA:7234|EHDAA:7427|galen:TricuspidValve|EHDAA2:0004029 hp.json right atrioventricular valve|valvula tricuspidalis|valva atrioventricularis dextra http://purl.obolibrary.org/obo/UBERON_0002134 pheno_slim|human_reference_atlas|uberon_slim CARO:0001001 biolink:NamedThing Graph owl:Nothing biolink:NamedThing Graph